diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index ccb3fa32..87881cfa 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 63c23205..5199f0cf 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 7d88eec2..12024229 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index ca023326..8cd5009a 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 4d1b489c..2d212894 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 857c32c9..1aa5fb0c 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index a9926a39..00259e02 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/omim.owl ### Entities and axioms diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 19b70fa9..b7d25fe3 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/ordo.owl ### Entities and axioms diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index a06824af..0465536b 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -1221,7 +1221,7 @@ | MONDO:0857342 | thyroid gland clear cell follicular adenoma | NCIT:C46119 | MONDO:equivalentTo | Thyroid Gland Clear Cell Follicular Adenoma | A thyroid gland adenoma composed of follicular cells with cytoplasmic clearing. | MONDO:0003426|MONDO:0005032 | | MONDO:0857343 | thyroid gland hyperfunctioning adenoma | NCIT:C46122 | MONDO:equivalentTo | Thyroid Gland Hyperfunctioning Adenoma | A thyroid gland adenoma producing thyroxin. It is associated with hyperthyroidism. Radioactive iodine scan reveals a hot nodule. | MONDO:0005032 | | MONDO:0857345 | thyroid gland paraganglioma | NCIT:C46125 | MONDO:equivalentTo | Thyroid Gland Paraganglioma | A rare, circumscribed or encapsulated neuroendocrine tumor arising from the thyroid gland. Microscopically, it is characterized by the presence of tumor cells arranged in a nesting (Zellballen) growth pattern. The reported cases have followed a benign clinical course. | MONDO:0006239|MONDO:0015074 | -| MONDO:0857346 | benign skin appendage neoplasm | NCIT:C4615 | MONDO:equivalentTo | Benign Skin Appendage Neoplasm | A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. | MONDO:0021440|MONDO:0002297 | +| MONDO:0857346 | benign skin appendage neoplasm | NCIT:C4615 | MONDO:equivalentTo | Benign Skin Appendage Neoplasm | A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. | MONDO:0002297|MONDO:0021440 | | MONDO:0857349 | pineal region germ cell tumor | NCIT:C4659 | MONDO:equivalentTo | Pineal Region Germ Cell Tumor | A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma. | MONDO:0021232|MONDO:0003000 | | MONDO:0857356 | adenocarcinoma with metaplasia | NCIT:C4712 | MONDO:equivalentTo | Adenocarcinoma with Metaplasia | An adenocarcinoma characterized by the presence of metaplasia. | MONDO:0004970 | | MONDO:0857357 | atypical meningioma | NCIT:C4723 | MONDO:equivalentTo | Atypical Meningioma | A WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis. | MONDO:0045056 | diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index f9f17264..0daf291e 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/fadd3792-7a38-42ae-821d-a5e8df8e095a +# mapping_set_id: https://w3id.org/sssom/mappings/587b05f4-21a5-45c0-ab6c-280e162498f2 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index b523699c..f029878d 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/062497bd-5eac-4db9-bb91-91a624065e94 +# mapping_set_id: https://w3id.org/sssom/mappings/2bedfbd5-73f3-49b5-a77a-483474ec900c diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index f254f900..e8356a0e 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/74f88aa8-505a-4118-ab27-a8f67894b750 +# mapping_set_id: https://w3id.org/sssom/mappings/45723c0c-b3da-412e-802c-dba57dd3394f diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index 9dd86618..0c34765e 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/028a6de9-be78-4feb-94c8-0da96bfb60a2 +# mapping_set_id: https://w3id.org/sssom/mappings/2b56e2ed-453e-4172-bcaf-ec8c13bac3c0 diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 6829d68c..fd3ef735 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/056ce54c-b213-4c8b-80e2-1f9d7add42e0 +# mapping_set_id: https://w3id.org/sssom/mappings/7f726b69-2bde-4dd5-bc7c-67224477ed93 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 3d690e11..053e8b17 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/02eb0b21-398e-4fb8-9f5d-0a41af041cd1 +# mapping_set_id: https://w3id.org/sssom/mappings/081c05a7-0052-4aeb-8298-5d2f5563a7eb subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/ontology/external/gard.robot.owl b/src/ontology/external/gard.robot.owl index 8565d964..37f1d485 100644 --- a/src/ontology/external/gard.robot.owl +++ b/src/ontology/external/gard.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/mondo-clingen.robot.owl b/src/ontology/external/mondo-clingen.robot.owl index 8693b1a4..049c0d0d 100644 --- a/src/ontology/external/mondo-clingen.robot.owl +++ b/src/ontology/external/mondo-clingen.robot.owl @@ -9,7 +9,7 @@ xmlns:mondo="http://purl.obolibrary.org/obo/mondo#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/mondo-efo.robot.owl b/src/ontology/external/mondo-efo.robot.owl index 11da4b63..80a180a1 100644 --- a/src/ontology/external/mondo-efo.robot.owl +++ b/src/ontology/external/mondo-efo.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/mondo-medgen.robot.owl b/src/ontology/external/mondo-medgen.robot.owl index f6e379d8..344cd935 100644 --- a/src/ontology/external/mondo-medgen.robot.owl +++ b/src/ontology/external/mondo-medgen.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index da10db6a..db8d0d17 100644 --- a/src/ontology/external/mondo-omim-genes.robot.owl +++ b/src/ontology/external/mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/mondo-otar-subset.robot.owl b/src/ontology/external/mondo-otar-subset.robot.owl index a21ff8ff..ce1227b4 100644 --- a/src/ontology/external/mondo-otar-subset.robot.owl +++ b/src/ontology/external/mondo-otar-subset.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index f51a7857..b2835f63 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index e93c10d1..e3f99412 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 4184e39a..6ef11b5c 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-gard.robot.owl b/src/ontology/external/processed-gard.robot.owl index 8565d964..37f1d485 100644 --- a/src/ontology/external/processed-gard.robot.owl +++ b/src/ontology/external/processed-gard.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-mondo-clingen.robot.owl b/src/ontology/external/processed-mondo-clingen.robot.owl index 8693b1a4..049c0d0d 100644 --- a/src/ontology/external/processed-mondo-clingen.robot.owl +++ b/src/ontology/external/processed-mondo-clingen.robot.owl @@ -9,7 +9,7 @@ xmlns:mondo="http://purl.obolibrary.org/obo/mondo#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-mondo-efo.robot.owl b/src/ontology/external/processed-mondo-efo.robot.owl index 11da4b63..80a180a1 100644 --- a/src/ontology/external/processed-mondo-efo.robot.owl +++ b/src/ontology/external/processed-mondo-efo.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-mondo-medgen.robot.owl b/src/ontology/external/processed-mondo-medgen.robot.owl index f6e379d8..344cd935 100644 --- a/src/ontology/external/processed-mondo-medgen.robot.owl +++ b/src/ontology/external/processed-mondo-medgen.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-mondo-omim-genes.robot.owl b/src/ontology/external/processed-mondo-omim-genes.robot.owl index da10db6a..db8d0d17 100644 --- a/src/ontology/external/processed-mondo-omim-genes.robot.owl +++ b/src/ontology/external/processed-mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-mondo-otar-subset.robot.owl b/src/ontology/external/processed-mondo-otar-subset.robot.owl index a21ff8ff..ce1227b4 100644 --- a/src/ontology/external/processed-mondo-otar-subset.robot.owl +++ b/src/ontology/external/processed-mondo-otar-subset.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-nando-mappings.robot.owl b/src/ontology/external/processed-nando-mappings.robot.owl index f51a7857..b2835f63 100644 --- a/src/ontology/external/processed-nando-mappings.robot.owl +++ b/src/ontology/external/processed-nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-nord.robot.owl b/src/ontology/external/processed-nord.robot.owl index 036779df..71122253 100644 --- a/src/ontology/external/processed-nord.robot.owl +++ b/src/ontology/external/processed-nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/processed-ordo-subsets.robot.owl b/src/ontology/external/processed-ordo-subsets.robot.owl index 4184e39a..6ef11b5c 100644 --- a/src/ontology/external/processed-ordo-subsets.robot.owl +++ b/src/ontology/external/processed-ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 9709cba3..8ce6a398 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-21") +Annotation(owl:versionInfo "2024-11-23") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index e950ebf3..6ab43fb2 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-21") +Annotation(owl:versionInfo "2024-11-23") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 8ebc6832..bcd8c4f8 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -32,27 +32,27 @@ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 865 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 865 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6086 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1710 - * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 94 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 270 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 4 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 127 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 82 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6233 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 463 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 8 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 127 + * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1710 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6086 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 463 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6233 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377 * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 2 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 8 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 + * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 4 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 270 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 94 diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index def36940..9ed98ae6 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 9c7c277d..1cbbc2eb 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 4b6247d3..ea6a3939 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 00d18923..138c1046 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index b6280f92..ac159a46 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index bf303f60..4871d4e0 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 88b364a0..ac8a9779 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 116e7514..1f770545 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-21/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-23/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/sync-synonym/doid.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/doid.synonyms.confirmed.robot.tsv index 34a2b0f3..4910dc72 100644 --- a/src/ontology/reports/sync-synonym/doid.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/doid.synonyms.confirmed.robot.tsv @@ -13,7 +13,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym IGHD DOID:0060870 isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IGHD DOID:0060870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000127 geleophysic dysplasia oio:hasExactSynonym geleophysic dwarfism DOID:0111724 geleophysic dysplasia geleophysic dwarfism DOID:0111724 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 DOID:0080141 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym Walker-Warburg syndrome DOID:0050560 Walker-Warburg syndrome Walker-Warburg syndrome DOID:0050560 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome hard syndrome DOID:0050560 @@ -32,7 +31,6 @@ MONDO:0000248 dengue shock syndrome oio:hasExactSynonym DSS DOID:0050125 deng MONDO:0000250 osmotic diarrheal disease oio:hasExactSynonym osmotic diarrhea DOID:0050130 osmotic diarrhea osmotic diarrhea DOID:0050130 MONDO:0000255 subcutaneous mycosis oio:hasExactSynonym subcutaneous mycosis DOID:0050135 subcutaneous mycosis subcutaneous mycosis DOID:0050135 MONDO:0000265 aspiration pneumonia oio:hasExactSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia aspiration pneumonia DOID:0050152 -MONDO:0000265 aspiration pneumonia oio:hasExactSynonym Mendelson's syndrome Mendelson's syndrome Mendelson's Syndrome DOID:3240 aspiration pneumonitis Mendelson's syndrome DOID:3240 MONDO:0000270 lower respiratory tract disorder oio:hasExactSynonym lower respiratory tract disease DOID:0050161 lower respiratory tract disease lower respiratory tract disease DOID:0050161 MONDO:0000273 Kunjin virus infectous disease oio:hasExactSynonym Kunjin encephalitis DOID:0050174 Kunjin encephalitis Kunjin encephalitis DOID:0050174 MONDO:0000288 polycystic echinococcosis oio:hasExactSynonym human polycystic hydatid disease DOID:0050218 polycystic echinococcosis human polycystic hydatid disease DOID:0050218 @@ -59,9 +57,6 @@ MONDO:0000330 endemic typhus oio:hasExactSynonym toulon typhus DOID:0050481 e MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus DOID:0050481 endemic typhus urban typhus DOID:0050481 MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus of Malaya urban typhus of Malaya Urban Typhus of Malaya DOID:0050481 endemic typhus urban typhus of Malaya DOID:0050481 MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus shop typhus DOID:0050481 -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic flea-borne typhus DOID:11256 typhus endemic flea-borne typhus DOID:11256 -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus endemic typhus fever DOID:11256 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:11256 typhus shop typhus DOID:11256 MONDO:0000331 Rickettsia helvetica spotted fever oio:hasExactSynonym aneruptive fever DOID:0050484 aneruptive fever aneruptive fever DOID:0050484 MONDO:0000332 sennetsu fever oio:hasExactSynonym sennetsu fever DOID:0050485 sennetsu fever sennetsu fever DOID:0050485 MONDO:0000337 exanthema subitum oio:hasExactSynonym roseola Infantum roseola Infantum Roseola Infantum DOID:0050495 exanthema subitum roseola Infantum DOID:0050495 @@ -86,7 +81,6 @@ MONDO:0000387 hypochromic microcytic anemia oio:hasExactSynonym hypochromic mic MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym vitelliform macular dystrophy DOID:0050661 vitelliform macular dystrophy vitelliform macular dystrophy DOID:0050661 MONDO:0000395 alcohol-related birth defect oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000402 small cell carcinoma oio:hasExactSynonym small cell carcinoma DOID:0050685 small cell carcinoma small cell carcinoma DOID:0050685 -MONDO:0000402 small cell carcinoma oio:hasExactSynonym oat cell carcinoma DOID:5411 lung oat cell carcinoma oat cell carcinoma DOID:5411 MONDO:0000405 anal canal cancer oio:hasExactSynonym anal canal cancer DOID:0050688 anal canal cancer anal canal cancer DOID:0050688 MONDO:0000411 electroclinical syndrome oio:hasExactSynonym electro-clinical syndrome DOID:0050701 electroclinical syndrome electro-clinical syndrome DOID:0050701 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym mature T-cell and NK-cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma mature T-cell and NK-cell lymphoma DOID:0050743 @@ -143,9 +137,6 @@ MONDO:0000544 mucosal melanoma oio:hasExactSynonym mucosal melanoma DOID:0050 MONDO:0000545 sublingual gland adenoid cystic carcinoma oio:hasExactSynonym sublingual gland adenoid cystic carcinoma DOID:0050930 sublingual gland adenoid cystic carcinoma sublingual gland adenoid cystic carcinoma DOID:0050930 MONDO:0000548 ovarian clear cell cancer oio:hasExactSynonym clear-cell ovarian carcinoma DOID:0050934 ovarian clear cell carcinoma clear-cell ovarian carcinoma DOID:0050934 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal pheochromocytoma DOID:0050936 extra-adrenal pheochromocytoma extra-adrenal pheochromocytoma DOID:0050936 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma lobular carcinoma DOID:3457 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular carcinoma of breast DOID:3457 invasive lobular carcinoma lobular carcinoma of breast DOID:3457 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma lobular carcinoma of the breast DOID:3457 MONDO:0000572 recombinase activating gene 1 deficiency oio:hasExactSynonym recombinase activating gene 1 deficiency DOID:0060011 recombinase activating gene 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL recombinase activating gene 1 deficiency DOID:0060011 MONDO:0000573 recombinase activating gene 2 deficiency oio:hasExactSynonym recombinase activating gene 2 deficiency DOID:0060012 recombinase activating gene 2 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL recombinase activating gene 2 deficiency DOID:0060012 MONDO:0000583 immunoglobulin beta deficiency oio:hasRelatedSynonym IgB deficiency DOID:0060026 immunoglobulin beta deficiency IgB deficiency DOID:0060026 @@ -153,7 +144,6 @@ MONDO:0000591 intrinsic cardiomyopathy oio:hasExactSynonym intrinsic cardiomyop MONDO:0000592 specific developmental disorder oio:hasExactSynonym specific developmental disorder DOID:0060038 specific developmental disorder specific developmental disorder DOID:0060038 MONDO:0000594 pervasive developmental disorder oio:hasExactSynonym pervasive development disorder DOID:0060040 pervasive developmental disorder pervasive development disorder DOID:0060040 MONDO:0000596 paraphilic disorder oio:hasExactSynonym paraphilia disorder DOID:0060044 paraphilia disorder paraphilia disorder DOID:0060044 -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym hypersensitivity DOID:1205 allergic disease hypersensitivity DOID:1205 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma cutaneous T cell lymphoma DOID:0060061 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T-cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma cutaneous T-cell lymphoma DOID:0060061 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 @@ -169,8 +159,6 @@ MONDO:0000627 benign endocrine neoplasm oio:hasExactSynonym endocrine organ ben MONDO:0000628 central nervous system organ benign neoplasm oio:hasExactSynonym central nervous system benign neoplasm DOID:0060090 central nervous system benign neoplasm central nervous system benign neoplasm DOID:0060090 MONDO:0000636 musculoskeletal system benign neoplasm oio:hasExactSynonym musculoskeletal system benign neoplasm DOID:0060099 musculoskeletal system benign neoplasm musculoskeletal system benign neoplasm DOID:0060099 MONDO:0000637 musculoskeletal system cancer oio:hasExactSynonym musculoskeletal system cancer DOID:0060100 musculoskeletal system cancer musculoskeletal system cancer DOID:0060100 -MONDO:0000639 cartilage cancer oio:hasExactSynonym cartilaginous cancer cartilaginous cancer Cartilaginous cancer DOID:3371 chondrosarcoma cartilaginous cancer DOID:3371 -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym central nervous system primitive neuroectodermal neoplasm DOID:0060103 central nervous system embryonal tumor central nervous system primitive neuroectodermal neoplasm DOID:0060103 MONDO:0000645 fallopian tube benign neoplasm oio:hasExactSynonym fallopian tube benign neoplasm DOID:0060111 fallopian tube benign neoplasm fallopian tube benign neoplasm DOID:0060111 MONDO:0000647 benign vaginal neoplasm oio:hasExactSynonym vaginal benign neoplasm DOID:0060114 vaginal benign neoplasm vaginal benign neoplasm DOID:0060114 @@ -179,7 +167,6 @@ MONDO:0000649 sensory system cancer oio:hasExactSynonym sensory system cancer MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym connective tissue benign neoplasm DOID:0060123 connective tissue benign neoplasm connective tissue benign neoplasm DOID:0060123 MONDO:0000659 delta-heavy chain disease oio:hasExactSynonym delta chain disease DOID:0060129 delta chain disease delta chain disease DOID:0060129 MONDO:0000662 amusia oio:hasExactSynonym receptive amusia DOID:0060132 amusia receptive amusia DOID:0060132 -MONDO:0000665 apraxia oio:hasExactSynonym dyspraxia dyspraxia Dyspraxia DOID:4090 agnosia dyspraxia DOID:4090 MONDO:0000671 finger agnosia oio:hasExactSynonym finger agnosia DOID:0060141 finger agnosia finger agnosia DOID:0060141 MONDO:0000679 social emotional agnosia oio:hasExactSynonym expressive agnosia DOID:0060149 social emotional agnosia expressive agnosia DOID:0060149 MONDO:0000680 astereognosia oio:hasExactSynonym astereognosia DOID:0060150 astereognosia astereognosia DOID:0060150 @@ -241,7 +228,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym Salmonella infection DOID:006 MONDO:0000831 thrombotic disease oio:hasExactSynonym thrombosis DOID:0060903 thrombosis thrombosis DOID:0060903 MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym caisson disease of bone caisson disease of bone Caisson disease of bone DOID:0080018 dysbaric osteonecrosis caisson disease of bone DOID:0080018 MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym DON DOID:0080018 dysbaric osteonecrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DON DOID:0080018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone DOID:1858 McCune Albright syndrome fibrous dysplasia of bone DOID:1858 MONDO:0000849 fibrogenesis imperfecta ossium oio:hasExactSynonym baker's disease baker's disease Baker's disease DOID:0080040 fibrogenesis imperfecta ossium baker's disease DOID:0080040 MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta DOID:0080073 spina bifida occulta spina bifida occulta DOID:0080073 MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia Childhood Acute Lymphoblastic Leukemia DOID:0080144 childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia DOID:0080144 @@ -280,8 +266,6 @@ MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym HS2 DOID:01 MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym SPH2 DOID:0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPH2 DOID:0110917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL 1 DOID:0111035 CADASIL 1 CADASIL 1 DOID:0111035 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 CADASIL 1 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym hereditary multi-infarct dementia DOID:13945 CADASIL hereditary multi-infarct dementia DOID:13945 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL DOID:13945 CADASIL http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CADASIL DOID:13945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000916 intestinal infectious disease oio:hasExactSynonym bacterial enteritis DOID:100 intestinal infectious disease bacterial enteritis DOID:100 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of Vater malignant tumour of ampulla of Vater malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of ampulla of Vater DOID:10020 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of ampulla of vater DOID:10020 @@ -517,7 +501,6 @@ MONDO:0001118 Queensland tick typhus oio:hasRelatedSynonym North Queensland tic MONDO:0001119 premature menopause oio:hasExactSynonym menopause - premature menopause - premature Menopause - premature DOID:10787 premature menopause menopause - premature DOID:10787 MONDO:0001119 premature menopause oio:hasExactSynonym menopause praecox menopause praecox Menopause praecox DOID:10787 premature menopause menopause praecox DOID:10787 MONDO:0001119 premature menopause oio:hasExactSynonym premature menopause DOID:10787 premature menopause premature menopause DOID:10787 -MONDO:0001119 premature menopause oio:hasExactSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency premature ovarian failure DOID:5426 MONDO:0001122 chronic maxillary sinusitis oio:hasExactSynonym chronic antritis DOID:10792 chronic maxillary sinusitis chronic antritis DOID:10792 MONDO:0001123 chronic sphenoidal sinusitis oio:hasExactSynonym sphenoidal sinus-chr. sphenoidal sinus-chr. Sphenoidal sinus-chr. DOID:10793 chronic sphenoidal sinusitis sphenoidal sinus-chr. DOID:10793 MONDO:0001126 gastric ulcer oio:hasExactSynonym gastric ulcer DOID:10808 gastric ulcer gastric ulcer DOID:10808 @@ -525,7 +508,6 @@ MONDO:0001127 tibialis tendinitis oio:hasExactSynonym tibialis tendinitis DOI MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nasal cavities DOID:10811 nasal cavity cancer malignant neoplasm of nasal cavities DOID:10811 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity DOID:10811 nasal cavity cancer malignant tumor of the nasal cavity DOID:10811 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer DOID:10811 nasal cavity cancer nasal cavity cancer DOID:10811 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma cancer of nasal cavity DOID:4931 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma DOID:10812 nasal cavity olfactory neuroblastoma nasal cavity olfactory neuroblastoma DOID:10812 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory neuroblastoma of the nasal cavity DOID:10812 nasal cavity olfactory neuroblastoma olfactory neuroblastoma of the nasal cavity DOID:10812 MONDO:0001130 nasal cavity lymphoma oio:hasExactSynonym lymphoma of nasal cavity DOID:10813 nasal cavity lymphoma lymphoma of nasal cavity DOID:10813 @@ -584,7 +566,6 @@ MONDO:0001155 gastrojejunal ulcer oio:hasExactSynonym chronic gastrojejunal ulc MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder DOID:10930 borderline personality disorder borderline personality disorder DOID:10930 MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCPD DOID:10932 obsessive-compulsive personality disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCPD DOID:10932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001158 obsessive-compulsive personality disorder oio:hasRelatedSynonym anankastic personality disorder anankastic personality disorder Anankastic personality disorder DOID:10932 obsessive-compulsive personality disorder anankastic personality disorder DOID:10932 -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative identity disorder DOID:10934 multiple personality disorder dissociative identity disorder DOID:10934 MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative disease DOID:10935 dissociative disorder dissociative disease DOID:10935 MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative reaction DOID:10935 dissociative disorder dissociative reaction DOID:10935 @@ -685,7 +666,6 @@ MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym dissem MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym DIC DOID:11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIC DOID:11247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K DOID:11249 vitamin K deficiency bleeding deficiency of vitamin K DOID:11249 MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym vitamin K deficiency DOID:11249 vitamin K deficiency bleeding vitamin K deficiency DOID:11249 -MONDO:0001246 typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus shop typhus DOID:0050481 MONDO:0001246 typhus oio:hasExactSynonym typhus fever typhus fever Typhus fever DOID:11256 typhus typhus fever DOID:11256 MONDO:0001246 typhus oio:hasRelatedSynonym European typhus DOID:11256 typhus European typhus DOID:11256 MONDO:0001246 typhus oio:hasRelatedSynonym Mexican typhus DOID:11256 typhus Mexican typhus DOID:11256 @@ -913,7 +893,6 @@ MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym tumor of frontal lobe t MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn syndrome DOID:12028 Conn's syndrome Conn syndrome DOID:12028 MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn's syndrome DOID:12028 Conn's syndrome Conn's syndrome DOID:12028 MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary aldosteronism DOID:12028 Conn's syndrome primary aldosteronism DOID:12028 -MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism primary hyperaldosteronism DOID:446 MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym mediastinum neurofibroma DOID:12064 mediastinum neurofibroma mediastinum neurofibroma DOID:12064 MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym neurofibroma of mediastinum neurofibroma of mediastinum Neurofibroma of mediastinum DOID:12064 mediastinum neurofibroma neurofibroma of mediastinum DOID:12064 MONDO:0001427 Dieulafoy lesion oio:hasExactSynonym Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 Dieulafoy lesion Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 @@ -1019,7 +998,6 @@ MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym acute alcoholic liver dis MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic Hepatitis alcoholic Hepatitis alcoholic hepatitis DOID:12351 alcoholic hepatitis alcoholic Hepatitis DOID:12351 MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic hepatitis DOID:12351 alcoholic hepatitis alcoholic hepatitis DOID:12351 MONDO:0001507 viral labyrinthitis oio:hasExactSynonym epidemic vertigo epidemic vertigo Epidemic vertigo DOID:12357 viral labyrinthitis epidemic vertigo DOID:12357 -MONDO:0001509 endocrine exophthalmos oio:hasExactSynonym thyroid eye disease DOID:0081120 Graves ophthalmopathy thyroid eye disease DOID:0081120 MONDO:0001510 lateral displacement of eye oio:hasExactSynonym lateral displacement of globe lateral displacement of globe Lateral displacement of globe DOID:12360 lateral displacement of eye lateral displacement of globe DOID:12360 MONDO:0001512 intermittent proptosis oio:hasExactSynonym intermittent exophthalmos intermittent exophthalmos Intermittent exophthalmos DOID:12363 intermittent proptosis intermittent exophthalmos DOID:12363 MONDO:0001514 prolapse of urethra oio:hasExactSynonym urethrocele urethrocele Urethrocele DOID:12369 prolapse of urethra urethrocele DOID:12369 @@ -1190,7 +1168,6 @@ MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe pre-eclampsia, wi MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe preeclampsia DOID:13129 severe pre-eclampsia severe preeclampsia DOID:13129 MONDO:0001642 hordeolum externum oio:hasExactSynonym external stye DOID:13134 hordeolum externum external stye DOID:13134 MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 acute proliferative glomerulonephritis acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 -MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis post-streptococcal glomerulonephritis DOID:14064 MONDO:0001645 crescentic glomerulonephritis oio:hasExactSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis crescentic glomerulonephritis DOID:13139 MONDO:0001648 esophageal candidiasis oio:hasExactSynonym Candida esophagitis Candida esophagitis Candida Esophagitis DOID:13146 esophageal candidiasis Candida esophagitis DOID:13146 MONDO:0001648 esophageal candidiasis oio:hasExactSynonym candidal esophagitis candidal esophagitis Candidal esophagitis DOID:13146 esophageal candidiasis candidal esophagitis DOID:13146 @@ -1501,9 +1478,6 @@ MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock DOID:14115 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome DOID:14115 toxic shock syndrome toxic shock syndrome DOID:14115 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS DOID:14115 toxic shock syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TSS DOID:14115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001882 bacteriuria oio:hasExactSynonym bacteriuria DOID:1412 bacteriuria bacteriuria DOID:1412 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym purple toe syndrome DOID:1461 cholesterol embolism purple toe syndrome DOID:1461 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym trash foot DOID:1461 cholesterol embolism trash foot DOID:1461 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism warfarin blue toe syndrome DOID:1461 MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve tumors VIth cranial nerve tumors VIth Cranial nerve tumors DOID:14125 abducens nerve neoplasm VIth cranial nerve tumors DOID:14125 MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym neoplasm of abducens nerve DOID:14125 abducens nerve neoplasm neoplasm of abducens nerve DOID:14125 MONDO:0001887 Allen-Masters syndrome oio:hasExactSynonym Broad ligament laceration syndrome DOID:14133 Masters-Allen syndrome Broad ligament laceration syndrome DOID:14133 @@ -1643,7 +1617,6 @@ MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasE MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym Dejerine-Thomas syndrome DOID:14784 olivopontocerebellar atrophy Dejerine-Thomas syndrome DOID:14784 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy WADIA-swami syndrome DOID:14784 -MONDO:0002026 candidiasis oio:hasExactSynonym thrush DOID:14262 oral candidiasis thrush DOID:14262 MONDO:0002027 avoidant personality disorder oio:hasExactSynonym anxious personality disorder DOID:1509 avoidant personality disorder anxious personality disorder DOID:1509 MONDO:0002028 personality disorder oio:hasExactSynonym character disorder DOID:1510 personality disorder character disorder DOID:1510 MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder DOID:1510 personality disorder personality disorder DOID:1510 @@ -1661,7 +1634,6 @@ MONDO:0002035 colon lymphoma oio:hasExactSynonym colonic lymphoma colonic lymph MONDO:0002036 penile disorder oio:hasExactSynonym penile disease DOID:1529 penile disease penile disease DOID:1529 MONDO:0002037 pleural disorder oio:hasExactSynonym disorder of pleura DOID:1532 pleural disease disorder of pleura DOID:1532 MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcinoma DOID:1542 head and neck carcinoma head and neck carcinoma DOID:1542 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym carcinoma of the head and neck DOID:5520 head and neck squamous cell carcinoma carcinoma of the head and neck DOID:5520 MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disease DOID:1561 cognitive disorder cognitive disease DOID:1561 MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder DOID:1561 cognitive disorder cognitive disorder DOID:1561 MONDO:0002039 cognitive disorder oio:hasRelatedSynonym organic mental disorder organic mental disorder Organic Mental disorder DOID:1561 cognitive disorder organic mental disorder DOID:1561 @@ -1819,12 +1791,10 @@ MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma oio:hasExactSynonym MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma DOID:1907 malignant fibrous histiocytoma fibroxanthosarcoma DOID:1907 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma DOID:1907 malignant fibrous histiocytoma malignant fibrous histiocytoma DOID:1907 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH DOID:1907 malignant fibrous histiocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MFH DOID:1907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma DOID:3354 fibrosarcoma of bone malignant fibroxanthoma DOID:3354 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal endodermal sinus neoplasm DOID:1910 vaginal yolk sac tumor vaginal endodermal sinus neoplasm DOID:1910 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac neoplasm vaginal yolk Sac neoplasm vaginal Yolk Sac neoplasm DOID:1910 vaginal yolk sac tumor vaginal yolk Sac neoplasm DOID:1910 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac tumor vaginal yolk Sac tumor vaginal yolk sac tumor DOID:1910 vaginal yolk sac tumor vaginal yolk Sac tumor DOID:1910 MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym sex differentiation disease DOID:1923 disorder of sexual development sex differentiation disease DOID:1923 -MONDO:0002146 hypogonadism oio:hasExactSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism hypogonadotropism DOID:0090070 MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproductive system neoplasm DOID:193 reproductive organ cancer malignant reproductive system neoplasm DOID:193 MONDO:0002149 reproductive system cancer oio:hasExactSynonym reproductive organ cancer DOID:193 reproductive organ cancer reproductive organ cancer DOID:193 MONDO:0002152 intermittent squint oio:hasExactSynonym intermittent heterotropia intermittent heterotropia Intermittent heterotropia DOID:1942 intermittent squint intermittent heterotropia DOID:1942 @@ -2029,7 +1999,6 @@ MONDO:0002311 retinal vascular disorder oio:hasExactSynonym retina circulation MONDO:0002312 opportunistic mycosis oio:hasExactSynonym opportunistic mycoses opportunistic mycoses Opportunistic mycoses DOID:2473 opportunistic mycosis opportunistic mycoses DOID:2473 MONDO:0002314 chronic conjunctivitis oio:hasExactSynonym chronic conjunctivitis DOID:2475 chronic conjunctivitis chronic conjunctivitis DOID:2475 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy peripheral motor neuropathy Peripheral Motor Neuropathy DOID:2477 motor peripheral neuropathy peripheral motor neuropathy DOID:2477 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy DOID:683 motor neuritis peripheral motor neuropathy DOID:683 MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym central vestibular vertigo DOID:2479 central nervous system origin vertigo central vestibular vertigo DOID:2479 MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym vertigo of central origin vertigo of central origin Vertigo of central origin DOID:2479 central nervous system origin vertigo vertigo of central origin DOID:2479 MONDO:0002318 trachea leiomyoma oio:hasExactSynonym leiomyoma of the trachea leiomyoma of the trachea leiomyoma of the Trachea DOID:248 trachea leiomyoma leiomyoma of the trachea DOID:248 @@ -2073,7 +2042,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer DOID:2595 glo MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis DOID:2595 glottis cancer malignant tumor of glottis DOID:2595 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis malignant tumor of the Glottis DOID:2595 glottis cancer malignant tumor of the glottis DOID:2595 MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer DOID:2596 larynx cancer larynx cancer DOID:2596 -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx DOID:2600 laryngeal carcinoma cancer of larynx DOID:2600 MONDO:0002353 glottis neoplasm oio:hasExactSynonym glottis neoplasm DOID:2597 glottis neoplasm glottis neoplasm DOID:2597 MONDO:0002353 glottis neoplasm oio:hasExactSynonym neoplasm of glottis DOID:2597 glottis neoplasm neoplasm of glottis DOID:2597 MONDO:0002353 glottis neoplasm oio:hasExactSynonym tumor of the glottis tumor of the glottis tumor of the Glottis DOID:2597 glottis neoplasm tumor of the glottis DOID:2597 @@ -2123,7 +2091,6 @@ MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid choristoma dermoid chori MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst DOID:2658 dermoid cyst dermoid cyst DOID:2658 MONDO:0002378 dermoid cyst oio:hasExactSynonym mature cystic teratoma mature cystic teratoma Mature cystic teratoma DOID:2658 dermoid cyst mature cystic teratoma DOID:2658 MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid tumour dermoid tumour Dermoid tumour DOID:2658 dermoid cyst http://purl.obolibrary.org/obo/OMO_0003005 dermoid tumour DOID:2658 -MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst dermoid cyst Dermoid cyst DOID:5117 dermoid cyst of ovary dermoid cyst DOID:5117 MONDO:0002379 cystic teratoma oio:hasExactSynonym cystic teratoma DOID:2660 cystic teratoma cystic teratoma DOID:2660 MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial adenoma myoepithelial adenoma Myoepithelial adenoma DOID:2661 myoepithelioma myoepithelial adenoma DOID:2661 MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial neoplasm myoepithelial neoplasm Myoepithelial neoplasm DOID:2661 myoepithelioma myoepithelial neoplasm DOID:2661 @@ -2316,7 +2283,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis DOID:3087 gingivitis MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma DOID:3112 papillary adenocarcinoma papillary adenocarcinoma DOID:3112 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym kidney benign neoplasm DOID:3116 kidney benign neoplasm kidney benign neoplasm DOID:3116 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym renal and ureteral tumor DOID:3116 kidney benign neoplasm renal and ureteral tumor DOID:3116 -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym hepatobiliary tumors DOID:3117 hepatobiliary benign neoplasm hepatobiliary tumors DOID:3117 MONDO:0002515 hepatobiliary disorder oio:hasExactSynonym liver and biliary tract disease DOID:3118 hepatobiliary disease liver and biliary tract disease DOID:3118 MONDO:0002516 digestive system cancer oio:hasExactSynonym digestive system cancer DOID:3119 gastrointestinal system cancer digestive system cancer DOID:3119 MONDO:0002516 digestive system cancer oio:hasExactSynonym gastrointestinal system cancer DOID:3119 gastrointestinal system cancer gastrointestinal system cancer DOID:3119 @@ -2368,7 +2334,6 @@ MONDO:0002545 spinal cord disorder oio:hasRelatedSynonym myelopathy DOID:319 MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma DOID:3192 neurilemmoma neurilemmoma DOID:3192 MONDO:0002546 schwannoma oio:hasExactSynonym psammomatous schwannoma psammomatous schwannoma Psammomatous schwannoma DOID:3192 neurilemmoma psammomatous schwannoma DOID:3192 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma DOID:3192 neurilemmoma schwannoma DOID:3192 -MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm nerve sheath neoplasm DOID:1192 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath neoplasm of the nerve Sheath DOID:3193 peripheral nerve sheath neoplasm neoplasm of the nerve sheath DOID:3193 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym peripheral nerve sheath neoplasm DOID:3193 peripheral nerve sheath neoplasm peripheral nerve sheath neoplasm DOID:3193 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumour DOID:3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/OMO_0003005 nerve sheath tumour DOID:3193 @@ -2561,7 +2526,6 @@ MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym adult fibrosarcoma DOID: MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma DOID:3517 conventional fibrosarcoma conventional fibrosarcoma DOID:3517 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma DOID:3520 childhood fibrosarcoma childhood fibrosarcoma DOID:3520 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma DOID:3520 childhood fibrosarcoma pediatric fibrosarcoma DOID:3520 -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia DOID:2316 brain ischemia cerebral ischemia DOID:2316 MONDO:0002679 cerebral infarction oio:hasExactSynonym CVA - cerebral infarction CVA - cerebral infarction CVA - Cerebral infarction DOID:3526 cerebral infarction CVA - cerebral infarction DOID:3526 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarct cerebral infarct Cerebral infarct DOID:3526 cerebral infarction cerebral infarct DOID:3526 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction DOID:3526 cerebral infarction cerebral infarction DOID:3526 @@ -2920,7 +2884,6 @@ MONDO:0002930 kidney sarcoma oio:hasExactSynonym sarcoma of kidney DOID:4242 MONDO:0002934 intravascular angioleiomyoma oio:hasExactSynonym intravascular angioleiomyoma DOID:4266 intravascular angioleiomyoma intravascular angioleiomyoma DOID:4266 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal cell carcinoma of scrotum DOID:4278 scrotum basal cell carcinoma basal cell carcinoma of scrotum DOID:4278 MONDO:0002936 scrotum basal cell carcinoma oio:hasRelatedSynonym basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma basal cell carcinoma of the scrotum DOID:4278 -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer DOID:2513 basal cell carcinoma Rodent Ulcer DOID:2513 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym basal cell carcinoma, nodular basal cell carcinoma, nodular Basal cell carcinoma, nodular DOID:4280 nodular basal cell carcinoma basal cell carcinoma, nodular DOID:4280 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym circumscribed solid basal cell carcinoma circumscribed solid basal cell carcinoma Circumscribed solid basal cell carcinoma DOID:4280 nodular basal cell carcinoma circumscribed solid basal cell carcinoma DOID:4280 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma DOID:4280 nodular basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma DOID:4280 @@ -3584,8 +3547,6 @@ MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma DOID:5402 v MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma DOID:5403 microcystic adenoma microcystic adenoma DOID:5403 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult small cell carcinoma of the lung DOID:5414 lung occult small cell carcinoma occult small cell carcinoma of the lung DOID:5414 MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small cell carcinoma of the lung combined small cell carcinoma of the lung Combined small cell carcinoma of the lung DOID:5421 lung combined type small cell carcinoma combined small cell carcinoma of the lung DOID:5421 -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small and large cell lung cancer DOID:7081 lung mixed small cell and squamous cell carcinoma combined small and large cell lung cancer DOID:7081 -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma small cell and large cell carcinoma of the lung DOID:7081 MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym urinary bladder villous adenoma DOID:5427 urinary bladder villous adenoma urinary bladder villous adenoma DOID:5427 MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym villous adenoma of urinary bladder DOID:5427 urinary bladder villous adenoma villous adenoma of urinary bladder DOID:5427 MONDO:0003441 dystonic disorder oio:hasExactSynonym dystonia DOID:543 dystonia dystonia DOID:543 @@ -3686,7 +3647,6 @@ MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym choriocarcinoma of MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym testicular choriocarcinoma testicular choriocarcinoma testicular Choriocarcinoma DOID:5551 choriocarcinoma of the testis testicular choriocarcinoma DOID:5551 MONDO:0003509 pineal region choriocarcinoma oio:hasExactSynonym pineal choriocarcinoma pineal choriocarcinoma Pineal Choriocarcinoma DOID:5553 pineal region choriocarcinoma pineal choriocarcinoma DOID:5553 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym malignant germ cell tumor of testis DOID:5556 testicular malignant germ cell cancer malignant germ cell tumor of testis DOID:5556 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer testicular germ cell cancer DOID:5557 MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumor of mediastinum DOID:5560 mediastinal mesenchymal tumor soft tissue tumor of mediastinum DOID:5560 MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumour of mediastinum DOID:5560 mediastinal mesenchymal tumor http://purl.obolibrary.org/obo/OMO_0003005 soft tissue tumour of mediastinum DOID:5560 MONDO:0003513 gastric teratoma oio:hasExactSynonym gastric teratoma DOID:5561 gastric teratoma gastric teratoma DOID:5561 @@ -3707,8 +3667,6 @@ MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastri MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastric G-cell gastrin producing tumor DOID:5579 gastric gastrinoma gastric G-cell gastrin producing tumor DOID:5579 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor oio:hasExactSynonym pancreatic G-cell tumor DOID:5580 pancreatic gastrinoma pancreatic G-cell tumor DOID:5580 MONDO:0003528 Volkmann contracture oio:hasExactSynonym Volkmann's ischemic contracture DOID:5587 Volkmann contracture Volkmann's ischemic contracture DOID:5587 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma tubular apocrine adenoma DOID:3895 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym papillary eccrine adenoma DOID:5446 eccrine papillary adenoma papillary eccrine adenoma DOID:5446 MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym breast papillary carcinoma DOID:5592 breast papillary carcinoma breast papillary carcinoma DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym papillary carcinoma of the breast papillary carcinoma of the breast Papillary carcinoma of the breast DOID:5592 breast papillary carcinoma papillary carcinoma of the breast DOID:5592 MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym papillary carcinoma of the Thymus papillary carcinoma of the Thymus Papillary carcinoma of the Thymus DOID:5595 papillary thymic adenocarcinoma papillary carcinoma of the Thymus DOID:5595 @@ -3716,7 +3674,6 @@ MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym fallo MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma of the fallopian tube papillary adenocarcinoma of the fallopian tube Papillary adenocarcinoma of the fallopian tube DOID:5597 fallopian tube papillary adenocarcinoma papillary adenocarcinoma of the fallopian tube DOID:5597 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym acute Adult T-cell Leukemia-lymphoma acute Adult T-cell Leukemia-lymphoma Acute Adult T-cell Leukemia-Lymphoma DOID:5602 T-cell adult acute lymphocytic leukemia acute Adult T-cell Leukemia-lymphoma DOID:5602 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym adult precursor T lymphoblastic leukemia adult precursor T lymphoblastic leukemia adult Precursor T Lymphoblastic Leukemia DOID:5602 T-cell adult acute lymphocytic leukemia adult precursor T lymphoblastic leukemia DOID:5602 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia DOID:5603 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult ALL DOID:5604 adult acute lymphocytic leukemia adult ALL DOID:5604 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphocytic leukemia DOID:5604 adult acute lymphocytic leukemia adult acute lymphocytic leukemia DOID:5604 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphoid leukemia adult acute lymphoid leukemia adult acute lymphoid Leukemia DOID:5604 adult acute lymphocytic leukemia adult acute lymphoid leukemia DOID:5604 @@ -3860,7 +3817,6 @@ MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym esophageal ne MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumor of esophagus DOID:5784 esophageal neuroendocrine tumor neuroendocrine tumor of esophagus DOID:5784 MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumour of oesophagus DOID:5784 esophageal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 neuroendocrine tumour of oesophagus DOID:5784 MONDO:0003650 mixed hepatoblastoma oio:hasExactSynonym mixed epithelial and mesenchymal hepatoblastoma DOID:5789 mixed hepatoblastoma mixed epithelial and mesenchymal hepatoblastoma DOID:5789 -MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid urolithiasis DOID:0080654 uric acid urolithiasis uric acid urolithiasis DOID:0080654 MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid nephrolithiasis DOID:580 uric acid nephrolithiasis uric acid nephrolithiasis DOID:580 MONDO:0003653 stork bite oio:hasExactSynonym Salmon patch nevus DOID:5806 stork bite Salmon patch nevus DOID:5806 MONDO:0003653 stork bite oio:hasExactSynonym Unna's nevus DOID:5806 stork bite Unna's nevus DOID:5806 @@ -3963,7 +3919,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breas MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis DOID:6003 aleukemic leukemia cutis aleukemic leukemia cutis DOID:6003 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia DOID:6004 aleukemic leukemia aleukemic leukemia DOID:6004 MONDO:0003730 aleukemic leukemia oio:hasRelatedSynonym aleukemic myelosis DOID:6004 aleukemic leukemia aleukemic myelosis DOID:6004 -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma central nervous system teratoma DOID:3640 central nervous system teratoma Central nervous system teratoma DOID:3640 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma DOID:6015 adult central nervous system teratoma adult central nervous system teratoma DOID:6015 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym teratoma of the adult central nervous system DOID:6015 adult central nervous system teratoma teratoma of the adult central nervous system DOID:6015 MONDO:0003732 adult central nervous system mature teratoma oio:hasExactSynonym adult central nervous system mature teratoma DOID:6016 adult central nervous system mature teratoma adult central nervous system mature teratoma DOID:6016 @@ -4067,7 +4022,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma DOID:6179 ovarian small cell carcinoma ovarian small cell carcinoma DOID:6179 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum DOID:6190 rectum Kaposi's sarcoma Kaposi's sarcoma of rectum DOID:6190 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectum Kaposi sarcoma DOID:6190 rectum Kaposi's sarcoma rectum Kaposi sarcoma DOID:6190 -MONDO:0003799 conjunctivitis oio:hasExactSynonym pink eye pink eye Pink eye DOID:11213 acute contagious conjunctivitis pink eye DOID:11213 MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis DOID:6195 conjunctivitis conjunctivitis DOID:6195 MONDO:0003799 conjunctivitis oio:hasRelatedSynonym Madras eye DOID:6195 conjunctivitis Madras eye DOID:6195 MONDO:0003800 conventional malignant hemangiopericytoma oio:hasExactSynonym conventional malignant hemangiopericytoma DOID:6197 conventional malignant hemangiopericytoma conventional malignant hemangiopericytoma DOID:6197 @@ -4228,7 +4182,6 @@ MONDO:0003915 cortical thymoma oio:hasExactSynonym cortical thymoma DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym polygonal cell thymoma polygonal cell thymoma Polygonal cell Thymoma DOID:6530 thymoma type B2 polygonal cell thymoma DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma type B2 DOID:6530 thymoma type B2 thymoma type B2 DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma, cortical thymoma, cortical Thymoma, cortical DOID:6530 thymoma type B2 thymoma, cortical DOID:6530 -MONDO:0003917 heart lymphoma oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003917 heart lymphoma oio:hasExactSynonym heart lymphoma DOID:6547 heart lymphoma heart lymphoma DOID:6547 MONDO:0003917 heart lymphoma oio:hasExactSynonym lymphoma of heart lymphoma of heart Lymphoma of Heart DOID:6547 heart lymphoma lymphoma of heart DOID:6547 MONDO:0003921 posterior foramen magnum meningioma oio:hasExactSynonym meningioma of the posterior Foramen magnum meningioma of the posterior Foramen magnum meningioma of the Posterior Foramen Magnum DOID:6553 posterior foramen magnum meningioma meningioma of the posterior Foramen magnum DOID:6553 @@ -4298,11 +4251,9 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich syndrome DOID:6 MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich's syndrome DOID:6676 Froelich syndrome Froehlich's syndrome DOID:6676 MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froelich's syndrome DOID:6676 Froelich syndrome Froelich's syndrome DOID:6676 MONDO:0003962 Froelich syndrome oio:hasExactSynonym adiposogenital syndrome DOID:6676 Froelich syndrome adiposogenital syndrome DOID:6676 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva myositis ossificans progressiva DOID:13374 MONDO:0003964 myositis ossificans oio:hasExactSynonym Myisitis ossificans DOID:668 myositis ossificans Myisitis ossificans DOID:668 MONDO:0003964 myositis ossificans oio:hasExactSynonym ossification - muscle ossification - muscle Ossification - muscle DOID:668 myositis ossificans ossification - muscle DOID:668 MONDO:0003965 Capgras syndrome oio:hasExactSynonym Capgras delusion theory DOID:6680 Capgras syndrome Capgras delusion theory DOID:6680 -MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym gastric fundus cancer DOID:10538 gastric fundus cancer gastric fundus cancer DOID:10538 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach DOID:6700 gastric fundus carcinoma carcinoma of fundus of stomach DOID:6700 MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym carcinoma of pylorus of stomach carcinoma of pylorus of stomach carcinoma of Pylorus of stomach DOID:6703 gastric pylorus carcinoma carcinoma of pylorus of stomach DOID:6703 MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym gastric pylorus carcinoma DOID:6703 gastric pylorus carcinoma gastric pylorus carcinoma DOID:6703 @@ -4383,7 +4334,6 @@ MONDO:0004043 ureter inverted papilloma oio:hasExactSynonym ureteral inverted p MONDO:0004044 ureter urothelial papilloma oio:hasExactSynonym ureter urothelial papilloma DOID:6936 ureter urothelial papilloma ureter urothelial papilloma DOID:6936 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym childhood intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma childhood intraocular retinoblastoma DOID:6938 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym pediatric intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma pediatric intraocular retinoblastoma DOID:6938 -MONDO:0004046 childhood brain meningioma oio:hasExactSynonym Brain meningioma Brain meningioma brain meningioma DOID:0060106 brain meningioma Brain meningioma DOID:0060106 MONDO:0004046 childhood brain meningioma oio:hasExactSynonym pediatric meningioma of brain DOID:6939 childhood brain meningioma pediatric meningioma of brain DOID:6939 MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym neoplasm of sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm neoplasm of sphenoidal sinus DOID:6947 MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym tumor of sphenoidal sinus tumor of sphenoidal sinus tumor of Sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm tumor of sphenoidal sinus DOID:6947 @@ -4512,7 +4462,6 @@ MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immun MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym childhood CNS embryonal cell carcinoma DOID:7231 childhood CNS embryonal cell carcinoma childhood CNS embryonal cell carcinoma DOID:7231 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of pediatric CNS embryonal carcinoma of pediatric CNS Embryonal carcinoma of pediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma embryonal carcinoma of pediatric CNS DOID:7231 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of paediatric CNS embryonal carcinoma of paediatric CNS Embryonal carcinoma of paediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma http://purl.obolibrary.org/obo/OMO_0003005 embryonal carcinoma of paediatric CNS DOID:7231 -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma Central nervous system embryonal carcinoma DOID:7232 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym adult central nervous system embryonal carcinoma DOID:7233 adult central nervous system embryonal carcinoma adult central nervous system embryonal carcinoma DOID:7233 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal carcinoma of the adult central nervous system DOID:7233 adult central nervous system embryonal carcinoma embryonal carcinoma of the adult central nervous system DOID:7233 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas pancreatic mucinous cystadenocarcinoma DOID:7234 @@ -4584,7 +4533,6 @@ MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym epididymis adeno MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor DOID:746 adenomatoid tumor adenomatoid tumor DOID:746 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma benign localized epithelial Mesothelioma DOID:746 adenomatoid tumor benign localized epithelial mesothelioma DOID:746 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localised epithelial mesothelioma benign localised epithelial mesothelioma benign localised epithelial Mesothelioma DOID:746 adenomatoid tumor http://purl.obolibrary.org/obo/OMO_0003005 benign localised epithelial mesothelioma DOID:746 -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma DOID:3250 pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma DOID:3250 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma childhood anaplastic Rhabdomyosarcoma DOID:7463 childhood pleomorphic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma DOID:7463 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym NK-cell large granular lymphocyte lymphocytosis NK-cell large granular lymphocyte lymphocytosis NK-cell large granular Lymphocyte Lymphocytosis DOID:7465 chronic NK-cell lymphocytosis NK-cell large granular lymphocyte lymphocytosis DOID:7465 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym chronic NK-cell lymphocytosis DOID:7465 chronic NK-cell lymphocytosis chronic NK-cell lymphocytosis DOID:7465 @@ -5376,7 +5324,6 @@ MONDO:0004898 total circumpapillary dystrophy of choroid oio:hasExactSynonym ci MONDO:0004901 lingual-facial-buccal dyskinesia oio:hasExactSynonym oro-facial dyskinesia oro-facial dyskinesia Oro-facial dyskinesia DOID:9854 lingual-facial-buccal dyskinesia oro-facial dyskinesia DOID:9854 MONDO:0004904 toxic maculopathy oio:hasExactSynonym toxic maculopathy of retina toxic maculopathy of retina Toxic maculopathy of retina DOID:9867 toxic maculopathy toxic maculopathy of retina DOID:9867 MONDO:0004907 alopecia oio:hasExactSynonym alopecia DOID:987 alopecia alopecia DOID:987 -MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse syndrome DOID:0111154 postural orthostatic tachycardia syndrome mitral valve prolapse syndrome DOID:0111154 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym barlow's syndrome barlow's syndrome Barlow's syndrome DOID:988 mitral valve prolapse barlow's syndrome DOID:988 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym floppy mitral valve DOID:988 mitral valve prolapse floppy mitral valve DOID:988 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse DOID:988 mitral valve prolapse mitral valve prolapse DOID:988 @@ -5456,14 +5403,12 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease DOID:10652 Alzheimer's disease Alzheimer disease DOID:10652 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease DOID:10652 Alzheimer's disease Alzheimer's disease DOID:10652 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimers dementia DOID:10652 Alzheimer's disease Alzheimers dementia DOID:10652 -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis DOID:0111227 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig's disease DOID:332 amyotrophic lateral sclerosis Lou Gehrig's disease DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym motor neuron disease, bulbar DOID:332 amyotrophic lateral sclerosis motor neuron disease, bulbar DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS DOID:332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma DOID:0111147 angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma DOID:0111147 MONDO:0004979 asthma oio:hasExactSynonym bronchial hyperreactivity DOID:2841 asthma bronchial hyperreactivity DOID:2841 -MONDO:0004980 atopic eczema oio:hasExactSynonym eczema DOID:2723 dermatitis eczema DOID:2723 MONDO:0004980 atopic eczema oio:hasExactSynonym Besnier's prurigo DOID:3310 atopic dermatitis Besnier's prurigo DOID:3310 MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis DOID:3310 atopic dermatitis allergic dermatitis DOID:3310 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis DOID:3310 atopic dermatitis atopic dermatitis DOID:3310 @@ -5672,8 +5617,6 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcino MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma squamous cell Epithelioma DOID:1749 squamous cell carcinoma squamous cell epithelioma DOID:1749 MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell carcinoma of the lung epidermoid cell carcinoma of the lung Epidermoid cell carcinoma of the lung DOID:3907 lung squamous cell carcinoma epidermoid cell carcinoma of the lung DOID:3907 MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym lung squamous cell carcinoma DOID:3907 lung squamous cell carcinoma lung squamous cell carcinoma DOID:3907 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy diffuse sclerosis DOID:10588 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse Scleroderma diffuse Scleroderma diffuse scleroderma DOID:1580 diffuse scleroderma diffuse Scleroderma DOID:1580 MONDO:0005100 systemic sclerosis oio:hasExactSynonym Scleroderma syndrome DOID:418 systemic scleroderma Scleroderma syndrome DOID:418 MONDO:0005100 systemic sclerosis oio:hasExactSynonym Systemic Scleroderma Systemic Scleroderma systemic scleroderma DOID:418 systemic scleroderma Systemic Scleroderma DOID:418 MONDO:0005100 systemic sclerosis oio:hasExactSynonym progressive systemic sclerosis DOID:418 systemic scleroderma progressive systemic sclerosis DOID:418 @@ -5811,7 +5754,6 @@ MONDO:0005215 vulvar carcinoma oio:hasExactSynonym vulvar carcinoma vulvar carc MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym breast fibrocystic change breast fibrocystic change breast Fibrocystic Change DOID:10354 breast fibrocystic disease breast fibrocystic change DOID:10354 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym diffuse cystic mastopathy diffuse cystic mastopathy Diffuse cystic mastopathy DOID:10354 breast fibrocystic disease diffuse cystic mastopathy DOID:10354 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic disease of breast DOID:10354 breast fibrocystic disease fibrocystic disease of breast DOID:10354 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym BDC DOID:0110970 brachydactyly type C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDC DOID:0110970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct carcinoma of renal Collecting duct DOID:4464 collecting duct carcinoma carcinoma of renal collecting duct DOID:4464 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym collecting duct carcinoma DOID:4464 collecting duct carcinoma collecting duct carcinoma DOID:4464 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym renal carcinoma, collecting duct type DOID:4464 collecting duct carcinoma renal carcinoma, collecting duct type DOID:4464 @@ -5847,7 +5789,6 @@ MONDO:0005264 transient ischemic attack oio:hasExactSynonym transient ischemic MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA - transient ischaemic attack TIA - transient ischaemic attack TIA - Transient ischaemic attack DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/OMO_0003005 TIA - transient ischaemic attack DOID:224 MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease DOID:0050589 inflammatory bowel disease inflammatory bowel disease DOID:0050589 -MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym IBD DOID:9778 irritable bowel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD DOID:9778 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005266 diabetic retinopathy oio:hasExactSynonym retinal abnormality - diabetes-related retinal abnormality - diabetes-related Retinal abnormality - diabetes-related DOID:8947 diabetic retinopathy retinal abnormality - diabetes-related DOID:8947 MONDO:0005267 heart disorder oio:hasExactSynonym heart disease DOID:114 heart disease heart disease DOID:114 MONDO:0005269 carotid artery disorder oio:hasExactSynonym disorder of carotid artery DOID:3407 carotid artery disease disorder of carotid artery DOID:3407 @@ -6107,7 +6048,6 @@ MONDO:0005555 cycloplegia oio:hasExactSynonym paresis of accommodation paresis MONDO:0005556 lupus nephritis oio:hasExactSynonym lupus nephritis DOID:0080162 lupus nephritis lupus nephritis DOID:0080162 MONDO:0005558 ovarian disorder oio:hasExactSynonym ovarian disease DOID:1100 ovarian disease ovarian disease DOID:1100 MONDO:0005559 neurodegenerative disease oio:hasExactSynonym neurodegenerative disease DOID:1289 neurodegenerative disease neurodegenerative disease DOID:1289 -MONDO:0005559 neurodegenerative disease oio:hasExactSynonym brain degeneration brain degeneration Brain degeneration DOID:1443 cerebral degeneration brain degeneration DOID:1443 MONDO:0005560 brain disorder oio:hasExactSynonym brain disease DOID:936 brain disease brain disease DOID:936 MONDO:0005561 aortic disorder oio:hasExactSynonym aortic disorder DOID:520 aortic disease aortic disorder DOID:520 MONDO:0005561 aortic disorder oio:hasExactSynonym disorder of the aorta DOID:520 aortic disease disorder of the aorta DOID:520 @@ -6172,7 +6112,6 @@ MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder DOID:2030 MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety state DOID:2030 anxiety disorder anxiety state DOID:2030 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid typhoid Typhoid DOID:13258 typhoid fever typhoid DOID:13258 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever DOID:13258 typhoid fever typhoid fever DOID:13258 -MONDO:0005620 cerebral amyloid angiopathy oio:hasExactSynonym HCHWA DOID:0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCHWA DOID:0070027 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005625 cerebral malaria oio:hasExactSynonym malarial encephalitis malarial encephalitis Malarial encephalitis DOID:14069 cerebral malaria malarial encephalitis DOID:14069 MONDO:0005627 head and neck cancer oio:hasExactSynonym head and neck cancer DOID:11934 head and neck cancer head and neck cancer DOID:11934 MONDO:0005628 male breast carcinoma oio:hasExactSynonym Male breast cancer Male breast cancer male breast cancer DOID:1614 male breast cancer Male breast cancer DOID:1614 @@ -6377,10 +6316,10 @@ MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym mycotic mycetoma mycotic m MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian elephantiasis DOID:12211 filarial elephantiasis Bancroftian elephantiasis DOID:12211 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian filarial chyluria DOID:12211 filarial elephantiasis Bancroftian filarial chyluria DOID:12211 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym elephantiasis of eyelid DOID:12211 filarial elephantiasis elephantiasis of eyelid DOID:12211 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumour follicular dendritic cell tumour Follicular dendritic cell tumour DOID:6262 follicular dendritic cell sarcoma http://purl.obolibrary.org/obo/OMO_0003005 follicular dendritic cell tumour DOID:6262 MONDO:0005767 gas gangrene oio:hasExactSynonym gas bacillus infection gas bacillus infection Gas bacillus infection DOID:9159 gas gangrene gas bacillus infection DOID:9159 MONDO:0005767 gas gangrene oio:hasExactSynonym gas gangrene DOID:9159 gas gangrene gas gangrene DOID:9159 @@ -6436,7 +6375,6 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant hypopharyngeal t MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypopharynx DOID:8533 hypopharynx cancer malignant neoplasm of hypopharynx DOID:8533 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx DOID:8533 hypopharynx cancer malignant tumor of hypopharynx DOID:8533 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumour of hypopharynx DOID:8533 hypopharynx cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of hypopharynx DOID:8533 -MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma Trachoma trachoma DOID:11265 trachoma Trachoma DOID:11265 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis DOID:13800 inclusion conjunctivitis Chlamydial conjunctivitis DOID:13800 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym adult inclusion conjunctivitis DOID:13800 inclusion conjunctivitis adult inclusion conjunctivitis DOID:13800 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym inclusion blennorrhoea inclusion blennorrhoea Inclusion blennorrhoea DOID:13800 inclusion conjunctivitis inclusion blennorrhoea DOID:13800 @@ -6577,8 +6515,6 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell car MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant neoplasm of islets of Langerhans DOID:1798 pancreatic endocrine carcinoma malignant neoplasm of islets of Langerhans DOID:1798 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic endocrine carcinoma DOID:1798 pancreatic endocrine carcinoma pancreatic endocrine carcinoma DOID:1798 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic neuroendocrine carcinoma DOID:1798 pancreatic endocrine carcinoma pancreatic neuroendocrine carcinoma DOID:1798 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor malignant pancreatic Endocrine tumor DOID:1799 islet cell tumor malignant pancreatic endocrine tumor DOID:1799 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumour malignant pancreatic endocrine tumour malignant pancreatic Endocrine tumour DOID:1799 islet cell tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant pancreatic endocrine tumour DOID:1799 MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym mucocutaneous-lymphangitic paracoccidioidomycosis mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 paracoccidioidomycosis mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym paracoccidioidal mycosis DOID:12662 paracoccidioidomycosis paracoccidioidal mycosis DOID:12662 MONDO:0005895 paragonimiasis oio:hasExactSynonym infection by Paragonimus infection by Paragonimus Infection by Paragonimus DOID:10699 paragonimiasis infection by Paragonimus DOID:10699 @@ -6721,7 +6657,6 @@ MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidal vulvovagini MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidiasis of vulva and vagina candidiasis of vulva and vagina Candidiasis of vulva and vagina DOID:2272 vulvovaginal candidiasis candidiasis of vulva and vagina DOID:2272 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym monilial vulvovaginitis monilial vulvovaginitis Monilial vulvovaginitis DOID:2272 vulvovaginal candidiasis monilial vulvovaginitis DOID:2272 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vulvovaginal candidiasis DOID:2272 vulvovaginal candidiasis vulvovaginal candidiasis DOID:2272 -MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym meningococcal hemorrhagic adrenalitis meningococcal hemorrhagic adrenalitis Meningococcal hemorrhagic adrenalitis DOID:9931 Waterhouse-Friderichsen syndrome meningococcal hemorrhagic adrenalitis DOID:9931 MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's subsepsis allergica DOID:3047 Wissler-Fanconi syndrome Wissler's subsepsis allergica DOID:3047 MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's syndrome DOID:3047 Wissler-Fanconi syndrome Wissler's syndrome DOID:3047 @@ -6791,7 +6726,6 @@ MONDO:0006091 appendix neuroendocrine tumor G1 oio:hasExactSynonym appendix car MONDO:0006094 Askin tumor oio:hasExactSynonym Askin tumor DOID:0050608 Askin's tumor Askin tumor DOID:0050608 MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumor DOID:0050608 Askin's tumor Askin's tumor DOID:0050608 MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumour DOID:0050608 Askin's tumor http://purl.obolibrary.org/obo/OMO_0003005 Askin's tumour DOID:0050608 -MONDO:0006094 Askin tumor oio:hasExactSynonym PNET of thoracopulmonary region PNET of thoracopulmonary region PNET of Thoracopulmonary Region DOID:3369 Ewing sarcoma PNET of thoracopulmonary region DOID:3369 MONDO:0006108 bile duct adenoma oio:hasExactSynonym Cholangioadenoma DOID:5381 bile duct adenoma Cholangioadenoma DOID:5381 MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma DOID:5381 bile duct adenoma bile duct adenoma DOID:5381 MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym malignant biphasic mesothelioma DOID:4486 malignant biphasic mesothelioma malignant biphasic mesothelioma DOID:4486 @@ -6888,8 +6822,6 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym Her2-receptor MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma Renal Medullary Carcinoma DOID:0070475 MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym kidney medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma kidney medullary carcinoma DOID:0070475 MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma renal medullary carcinoma DOID:0070475 -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma Renal Medullary Carcinoma DOID:4464 -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma renal medullary carcinoma DOID:4464 MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym lacrimal gland adenoid cystic carcinoma DOID:4870 lacrimal gland adenoid cystic carcinoma lacrimal gland adenoid cystic carcinoma DOID:4870 MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of larynx adenoid cystic carcinoma of larynx adenoid cystic carcinoma of Larynx DOID:4869 laryngeal adenoid cystic carcinoma adenoid cystic carcinoma of larynx DOID:4869 MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym laryngeal adenoid cystic carcinoma DOID:4869 laryngeal adenoid cystic carcinoma laryngeal adenoid cystic carcinoma DOID:4869 @@ -7055,7 +6987,6 @@ MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureter small cell MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureteral small cell carcinoma DOID:6886 ureter small cell carcinoma ureteral small cell carcinoma DOID:6886 MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym mixed mullerian sarcoma of uterus DOID:6171 uterine carcinosarcoma mixed mullerian sarcoma of uterus DOID:6171 MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym uterine carcinosarcoma DOID:6171 uterine carcinosarcoma uterine carcinosarcoma DOID:6171 -MONDO:0006486 uveal melanoma oio:hasExactSynonym intraocular melanoma DOID:1752 ocular melanoma intraocular melanoma DOID:1752 MONDO:0006486 uveal melanoma oio:hasExactSynonym melanoma of uvea melanoma of uvea melanoma of Uvea DOID:6039 uveal melanoma melanoma of uvea DOID:6039 MONDO:0006486 uveal melanoma oio:hasExactSynonym uveal melanoma DOID:6039 uveal melanoma uveal melanoma DOID:6039 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym vaginal carcinosarcoma DOID:136 vaginal carcinosarcoma vaginal carcinosarcoma DOID:136 @@ -7138,7 +7069,6 @@ MONDO:0006574 lipomatosis oio:hasExactSynonym lipomatosis DOID:3153 lipomatos MONDO:0006576 Ludwig's angina oio:hasExactSynonym Ludwig angina DOID:4558 Ludwig's angina Ludwig angina DOID:4558 MONDO:0006576 Ludwig's angina oio:hasExactSynonym cellulitis of floor of mouth DOID:4558 Ludwig's angina cellulitis of floor of mouth DOID:4558 MONDO:0006578 mediastinal lipomatosis oio:hasExactSynonym mediastinal lipomatosis DOID:3926 mediastinal lipomatosis mediastinal lipomatosis DOID:3926 -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat DOID:11153 miliaria rubra prickly heat DOID:11153 MONDO:0006580 miliaria oio:hasExactSynonym heat rash DOID:1382 miliaria heat rash DOID:1382 MONDO:0006582 mongolian spot oio:hasExactSynonym Mongolian macula Mongolian macula Mongolian Macula DOID:4702 mongolian spot Mongolian macula DOID:4702 MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica DOID:3486 necrobiosis lipoidica necrobiosis lipoidica DOID:3486 @@ -7155,7 +7085,6 @@ MONDO:0006593 pelvic lipomatosis oio:hasExactSynonym pelvic lipomatosis DOID: MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic contact dermatitis photoallergic contact dermatitis Photoallergic contact dermatitis DOID:3818 photoallergic dermatitis photoallergic contact dermatitis DOID:3818 MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic eczema photoallergic eczema Photoallergic eczema DOID:3818 photoallergic dermatitis photoallergic eczema DOID:3818 MONDO:0006597 photosensitivity disease oio:hasExactSynonym photodermatitis photodermatitis Photodermatitis DOID:3159 photosensitivity disease photodermatitis DOID:3159 -MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photodermatitis DOID:3159 photosensitivity disease Photodermatitis DOID:3159 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photosensitisation reaction DOID:4407 phototoxic dermatitis Photosensitisation reaction DOID:4407 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitive dermatitis photosensitive dermatitis Photosensitive Dermatitis DOID:4407 phototoxic dermatitis photosensitive dermatitis DOID:4407 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitiveness photosensitiveness Photosensitiveness DOID:4407 phototoxic dermatitis photosensitiveness DOID:4407 @@ -7173,7 +7102,6 @@ MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym Seborrhoeic eczema DO MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrhea DOID:8741 seborrheic dermatitis seborrhea DOID:8741 MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrheic dermatitis DOID:8741 seborrheic dermatitis seborrheic dermatitis DOID:8741 MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym skin seborrheic skin seborrheic SKIN SEBORRHEIC DOID:8741 seborrheic dermatitis skin seborrheic DOID:8741 -MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym cradle Cap cradle Cap cradle cap DOID:8941 seborrheic infantile dermatitis cradle Cap DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoea capitis DOID:8941 seborrheic infantile dermatitis Seborrhoea capitis DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic dermatitis of scalp DOID:8941 seborrheic infantile dermatitis Seborrhoeic dermatitis of scalp DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic eczema of scalp DOID:8941 seborrheic infantile dermatitis Seborrhoeic eczema of scalp DOID:8941 @@ -7210,7 +7138,6 @@ MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal fai MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis DOID:12556 acute kidney tubular necrosis acute tubular necrosis DOID:12556 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubule necrosis DOID:12556 acute kidney tubular necrosis acute tubule necrosis DOID:12556 MONDO:0006638 acute retinal necrosis syndrome oio:hasExactSynonym acute retinal necrosis DOID:3611 acute retinal necrosis syndrome acute retinal necrosis DOID:3611 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma adenoid cystic carcinoma DOID:0080202 adenoid cystic carcinoma Adenoid Cystic Carcinoma DOID:0080202 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma DOID:3948 adrenocortical carcinoma adrenal cortical carcinoma DOID:3948 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma DOID:3948 adrenocortical carcinoma adrenocortical carcinoma DOID:3948 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym carcinoma of the adrenal cortex carcinoma of the adrenal cortex carcinoma of the Adrenal cortex DOID:3948 adrenocortical carcinoma carcinoma of the adrenal cortex DOID:3948 @@ -7321,7 +7248,6 @@ MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome D MONDO:0006742 endemic goiter oio:hasExactSynonym iodine-deficiency-related endemic goitre iodine-deficiency-related endemic goitre Iodine-deficiency-related endemic goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 iodine-deficiency-related endemic goitre DOID:13198 MONDO:0006742 endemic goiter oio:hasExactSynonym simple goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 simple goitre DOID:13198 MONDO:0006744 endolymphatic hydrops oio:hasExactSynonym labyrinthine hydrops DOID:9848 endolymphatic hydrops labyrinthine hydrops DOID:9848 -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome Empty Sella Syndrome empty sella syndrome DOID:3642 empty sella syndrome Empty Sella Syndrome DOID:3642 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma DOID:4226 endometrial stromal sarcoma endometrial stromal sarcoma DOID:4226 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma, high grade DOID:4226 endometrial stromal sarcoma endometrial stromal sarcoma, high grade DOID:4226 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym undifferentiated endometrial sarcoma undifferentiated endometrial sarcoma Undifferentiated endometrial sarcoma DOID:4226 endometrial stromal sarcoma undifferentiated endometrial sarcoma DOID:4226 @@ -7499,7 +7425,6 @@ MONDO:0006882 orchitis oio:hasExactSynonym Inflammation of testis DOID:2518 o MONDO:0006882 orchitis oio:hasExactSynonym Orchititis DOID:2518 orchitis Orchititis DOID:2518 MONDO:0006882 orchitis oio:hasExactSynonym inflammation of testis inflammation of testis Inflammation of testis DOID:2518 orchitis inflammation of testis DOID:2518 MONDO:0006882 orchitis oio:hasExactSynonym orchitis DOID:2518 orchitis orchitis DOID:2518 -MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast's tumor DOID:4876 trachea carcinoma Pancoast's tumor DOID:4876 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast tumor DOID:8007 Pancoast tumor Pancoast tumor DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym malignant Superior sulcus tumor malignant Superior sulcus tumor malignant Superior Sulcus tumor DOID:8007 Pancoast tumor malignant Superior sulcus tumor DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym superior pulmonary sulcus syndrome superior pulmonary sulcus syndrome Superior pulmonary sulcus syndrome DOID:8007 Pancoast tumor superior pulmonary sulcus syndrome DOID:8007 @@ -7512,7 +7437,6 @@ MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym adenoma of the para MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym parathyroid adenoma DOID:7608 parathyroid adenoma parathyroid adenoma DOID:7608 MONDO:0006891 partial motor epilepsy oio:hasExactSynonym epilepsy, focal motor DOID:3327 partial motor epilepsy epilepsy, focal motor DOID:3327 MONDO:0006891 partial motor epilepsy oio:hasExactSynonym focal motor seizure focal motor seizure Focal motor seizure DOID:3327 partial motor epilepsy focal motor seizure DOID:3327 -MONDO:0006895 penile neoplasm oio:hasExactSynonym penile neoplasm DOID:11615 penile cancer penile neoplasm DOID:11615 MONDO:0006895 penile neoplasm oio:hasExactSynonym neoplasm of penis DOID:11624 penile benign neoplasm neoplasm of penis DOID:11624 MONDO:0006895 penile neoplasm oio:hasExactSynonym penile tumor penile tumor Penile tumor DOID:11624 penile benign neoplasm penile tumor DOID:11624 MONDO:0006896 peptic esophagitis oio:hasExactSynonym peptic esophagitis DOID:13976 peptic esophagitis peptic esophagitis DOID:13976 @@ -7732,8 +7656,6 @@ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym amyloidosis, MERETOJ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym gelsolin amyloidosis DOID:0050637 Finnish type amyloidosis gelsolin amyloidosis DOID:0050637 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis VI amyloidosis VI Amyloidosis VI DOID:0070027 CST3-related cerebral amyloid angiopathy amyloidosis VI DOID:0070027 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis, Cerebroarterial, Icelandic type amyloidosis, Cerebroarterial, Icelandic type Amyloidosis, Cerebroarterial, Icelandic Type DOID:0070027 CST3-related cerebral amyloid angiopathy amyloidosis, Cerebroarterial, Icelandic type DOID:0070027 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cerebral hemorrhage, hereditary, with amyloidosis cerebral hemorrhage, hereditary, with amyloidosis Cerebral Hemorrhage, Hereditary, with Amyloidosis DOID:9246 cerebral amyloid angiopathy cerebral hemorrhage, hereditary, with amyloidosis DOID:9246 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis DOID:9246 cerebral amyloid angiopathy hereditary cerebral hemorrhage with amyloidosis DOID:9246 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym German type amyloidosis DOID:0050636 familial visceral amyloidosis German type amyloidosis DOID:0050636 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym Ostertag type amyloidosis Ostertag type amyloidosis OSTERTAG TYPE AMYLOIDOSIS DOID:0050636 familial visceral amyloidosis Ostertag type amyloidosis DOID:0050636 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, familial renal amyloidosis, familial renal AMYLOIDOSIS, FAMILIAL RENAL DOID:0050636 familial visceral amyloidosis amyloidosis, familial renal DOID:0050636 @@ -7875,7 +7797,6 @@ MONDO:0007222 brachydactyly type D oio:hasExactSynonym BDD DOID:0110971 brach MONDO:0007223 brachydactyly type E1 oio:hasExactSynonym BDE1 DOID:0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDE1 DOID:0110972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym branchiooculofacial syndrome DOID:0050691 branchiooculofacial syndrome branchiooculofacial syndrome DOID:0050691 MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL branchiootorenal syndrome 1 DOID:0111423 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma DOID:0060877 bullous congenital ichthyosiform erythroderma bullous congenital ichthyosiform erythroderma DOID:0060877 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis DOID:4603 epidermolytic hyperkeratosis epidermolytic hyperkeratosis DOID:4603 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis DOID:4603 epidermolytic hyperkeratosis epidermolytic ichthyosis DOID:4603 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic palmoplantar hyperkeratosis epidermolytic palmoplantar hyperkeratosis Epidermolytic palmoplantar hyperkeratosis DOID:4603 epidermolytic hyperkeratosis epidermolytic palmoplantar hyperkeratosis DOID:4603 @@ -8079,7 +8000,6 @@ MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym MECD DOID:006045 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy DOID:0070337 epithelial recurrent erosion dystrophy epithelial recurrent erosion dystrophy DOID:0070337 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED DOID:0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERED DOID:0070337 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cornelia de Lange syndrome 1 DOID:0080505 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis DOID:0050568 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 DOID:0112363 spondylocostal dysostosis 5 spondylocostal dysostosis 5 DOID:0112363 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 DOID:0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCDO5 DOID:0112363 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym Sommer-Young-Wee-Frye syndrome DOID:0111336 craniofacial-deafness-hand syndrome Sommer-Young-Wee-Frye syndrome DOID:0111336 @@ -8222,10 +8142,7 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self-healing epithelioma of Ferguson-Smith multiple self-healing epithelioma of Ferguson-Smith Multiple self-healing epithelioma of Ferguson-Smith DOID:5585 Ferguson-Smith tumor multiple self-healing epithelioma of Ferguson-Smith DOID:5585 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis 1 DOID:0060652 familial erythrocytosis 1 familial erythrocytosis 1 DOID:0060652 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym primary familial and congenital polycythemia DOID:0060652 familial erythrocytosis 1 primary familial and congenital polycythemia DOID:0060652 -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis DOID:10780 primary polycythemia familial erythrocytosis DOID:10780 MONDO:0007574 spinocerebellar ataxia type 34 oio:hasExactSynonym spinocerebellar ataxia type 34 DOID:0050981 spinocerebellar ataxia type 34 spinocerebellar ataxia type 34 DOID:0050981 -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus DOID:1107 esophageal carcinoma cancer of esophagus DOID:1107 -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 cancer of oesophagus DOID:1107 MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer DOID:5041 esophageal cancer esophageal cancer DOID:5041 MONDO:0007576 esophageal cancer oio:hasExactSynonym esophagus cancer DOID:5041 esophageal cancer esophagus cancer DOID:5041 MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym exudative vitreoretinopathy 1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL exudative vitreoretinopathy 1 DOID:0111412 @@ -8311,7 +8228,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym hypoplastic MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome DOID:0111101 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY5 DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation DOID:2436 glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glomuvenous malformation DOID:2436 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma DOID:7996 familial glomangioma familial glomangioma DOID:7996 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet alpha-granule deficiency DOID:0111044 gray platelet syndrome platelet alpha-granule deficiency DOID:0111044 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet-type bleeding disorder 4 DOID:0111044 gray platelet syndrome platelet-type bleeding disorder 4 DOID:0111044 @@ -8391,7 +8307,6 @@ MONDO:0007753 Frey syndrome oio:hasExactSynonym Baillarger syndrome DOID:1159 MONDO:0007753 Frey syndrome oio:hasExactSynonym Frey syndrome DOID:11599 Frey syndrome Frey syndrome DOID:11599 MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory hyperhidrosis DOID:11599 Frey syndrome gustatory hyperhidrosis DOID:11599 MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory sweating DOID:11599 Frey syndrome gustatory sweating DOID:11599 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym EPPK DOID:0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPPK DOID:0080223 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial APOA5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial APOA5 deficiency DOID:0111421 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein A-V deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial apolipoprotein A-V deficiency DOID:0111421 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein a5 deficiency familial apolipoprotein a5 deficiency familial apolipoprotein A5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial apolipoprotein a5 deficiency DOID:0111421 @@ -8524,7 +8439,6 @@ MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leuk MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, FAB M5 DOID:8864 acute monocytic leukemia acute monocytic leukemia, FAB M5 DOID:8864 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, morphology DOID:8864 acute monocytic leukemia acute monocytic leukemia, morphology DOID:8864 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukaemia without mention of remission DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute monocytic leukaemia without mention of remission DOID:8864 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym Dunnigan syndrome Dunnigan syndrome Dunnigan Syndrome DOID:0050440 familial partial lipodystrophy Dunnigan syndrome DOID:0050440 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial lipodystrophy of limbs and lower trunk DOID:0070202 familial partial lipodystrophy type 2 familial lipodystrophy of limbs and lower trunk DOID:0070202 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy Dunnigan type DOID:0070202 familial partial lipodystrophy type 2 familial partial lipodystrophy Dunnigan type DOID:0070202 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy type 2 DOID:0070202 familial partial lipodystrophy type 2 familial partial lipodystrophy type 2 DOID:0070202 @@ -8537,7 +8451,6 @@ MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipodystrophy, MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipomatosis, familial benign cervical lipomatosis, familial benign cervical LIPOMATOSIS, FAMILIAL BENIGN CERVICAL DOID:14116 multiple symmetric lipomatosis lipomatosis, familial benign cervical DOID:14116 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetric lipomatosis DOID:14116 multiple symmetric lipomatosis multiple symmetric lipomatosis DOID:14116 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis DOID:14116 multiple symmetric lipomatosis multiple symmetrical lipomatosis DOID:14116 -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus Lupus lupus DOID:8857 lupus erythematosus Lupus DOID:8857 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus SLE - lupus erythematosus, systemic DOID:9074 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lupus erythematosus DOID:9074 systemic lupus erythematosus disseminated lupus erythematosus DOID:9074 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym lupus erythematosus, systemic lupus erythematosus, systemic Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus lupus erythematosus, systemic DOID:9074 @@ -8660,7 +8573,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome DOID:0060888 transient myeloproliferative syndrome transient myeloproliferative syndrome DOID:0060888 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TAM DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD DOID:0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD DOID:0111078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym myoclonic dystonia 11 DOID:0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL myoclonic dystonia 11 DOID:0090034 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy Jankovic-Rivera syndrome DOID:0111527 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 @@ -8727,7 +8639,6 @@ MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym neutropenia, periodic ne MONDO:0008093 nevus, epidermal oio:hasExactSynonym Epidermal Nevus Epidermal Nevus epidermal nevus DOID:0111162 epidermal nevus Epidermal Nevus DOID:0111162 MONDO:0008093 nevus, epidermal oio:hasExactSynonym nonepidermolytic keratinocytic nevus DOID:0111162 epidermal nevus nonepidermolytic keratinocytic nevus DOID:0111162 MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym familial multiple port-wine stains DOID:0111529 familial multiple nevi flammei familial multiple port-wine stains DOID:0111529 -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym Salmon patch Nevus Salmon patch Nevus Salmon patch nevus DOID:5806 stork bite Salmon patch Nevus DOID:5806 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus Sebaceus Syndrome Nevus Sebaceus Syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome Nevus Sebaceus Syndrome DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus of Jadassohn Nevus sebaceus of Jadassohn nevus sebaceus of Jadassohn DOID:0111530 linear nevus sebaceous syndrome Nevus sebaceus of Jadassohn DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus syndrome Nevus sebaceus syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome Nevus sebaceus syndrome DOID:0111530 @@ -8889,7 +8800,6 @@ MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym Cronkhite-Canada sy MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis DOID:6225 Cronkhite-Canada syndrome gastric Cronkhite Canada polyposis DOID:6225 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym polysyndactyly with peculiars skull shape DOID:14761 Greig cephalopolysyndactyly syndrome polysyndactyly with peculiars skull shape DOID:14761 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalopolysyndactyly syndrome DOID:14761 Greig cephalopolysyndactyly syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Greig cephalopolysyndactyly syndrome DOID:14761 -MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome DOID:6683 X-linked Aarskog syndrome Greig's syndrome DOID:6683 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 brain small vessel disease 1 COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related familial vascular leukoencephalopathy DOID:0090125 brain small vessel disease 1 COL4A1-related familial vascular leukoencephalopathy DOID:0090125 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 brain small vessel disease 1 COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 @@ -8979,7 +8889,6 @@ MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Axenfeld-Rieg MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym RIEG1 DOID:0110120 Axenfeld-Rieger syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RIEG1 DOID:0110120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym Ring dermoid syndrome Ring dermoid syndrome ring dermoid syndrome DOID:0111548 ring dermoid of cornea Ring dermoid syndrome DOID:0111548 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym ring dermoid of cornea DOID:0111548 ring dermoid of cornea ring dermoid of cornea DOID:0111548 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym SRS DOID:0060802 syndromic X-linked intellectual disability Snyder type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SRS DOID:0060802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver Russell dwarfism Silver Russell dwarfism Silver Russell Dwarfism DOID:14681 Silver-Russell syndrome Silver Russell dwarfism DOID:14681 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome DOID:14681 Silver-Russell syndrome Silver-Russell syndrome DOID:14681 MONDO:0008397 aplasia of lacrimal and salivary glands oio:hasExactSynonym aplasia of lacrimal and salivary glands DOID:0111549 aplasia of lacrimal and salivary glands aplasia of lacrimal and salivary glands DOID:0111549 @@ -9213,8 +9122,8 @@ MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dy MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dystrophy DOID:0111604 Freeman-Sheldon syndrome craniocarpotarsal dystrophy DOID:0111604 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face syndrome DOID:0111604 Freeman-Sheldon syndrome whistling face syndrome DOID:0111604 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face-windmill vane hand syndrome DOID:0111604 Freeman-Sheldon syndrome whistling face-windmill vane hand syndrome DOID:0111604 -MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A distal arthrogryposis type 2A distal arthrogryposis type 2a DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 +MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym white sponge nevus 1 DOID:0081287 white sponge nevus 1 white sponge nevus 1 DOID:0081287 MONDO:0008678 Williams syndrome oio:hasExactSynonym Fanconi Schlesinger syndrome DOID:1928 Williams-Beuren syndrome Fanconi Schlesinger syndrome DOID:1928 MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome DOID:1928 Williams-Beuren syndrome Williams-Beuren syndrome DOID:1928 @@ -9222,7 +9131,6 @@ MONDO:0008681 WAGR syndrome oio:hasExactSynonym 11p partial monosomy syndrome MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome DOID:14515 WAGR syndrome WAGR syndrome DOID:14515 MONDO:0008681 WAGR syndrome oio:hasExactSynonym chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome chromosome 11p13 deletion syndrome DOID:14515 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome DOID:14515 WAGR syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome DOID:14515 -MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type 4 DOID:0080383 nephrotic syndrome type 4 nephrotic syndrome type 4 DOID:0080383 MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome DOID:3764 Denys-Drash syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Denys-Drash syndrome DOID:3764 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome 4p deletion syndrome DOID:0050460 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Pitt syndrome Pitt syndrome PITT SYNDROME DOID:0050460 Wolf-Hirschhorn syndrome Pitt syndrome DOID:0050460 @@ -9474,7 +9382,6 @@ MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym presenile gangrene presenile gangrene Presenile gangrene DOID:12918 thromboangiitis obliterans presenile gangrene DOID:12918 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans DOID:12918 thromboangiitis obliterans thromboangiitis obliterans DOID:12918 MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym Brown-Vialetto-van Laere syndrome Brown-Vialetto-van Laere syndrome Brown-Vialetto-Van Laere syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome Brown-Vialetto-van Laere syndrome DOID:0050694 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym Byler disease DOID:0070221 progressive familial intrahepatic cholestasis Byler disease DOID:0070221 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym FIC1 deficiency DOID:0070226 progressive familial intrahepatic cholestasis 1 FIC1 deficiency DOID:0070226 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym PFIC1 DOID:0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFIC1 DOID:0070226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008893 C syndrome oio:hasExactSynonym C syndrome DOID:0111581 C syndrome C syndrome DOID:0111581 @@ -9487,7 +9394,6 @@ MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym CALJA DOID:0111582 hereditary arterial and articular multiple calcification syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CALJA DOID:0111582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer DOID:1324 lung cancer lung cancer DOID:1324 MONDO:0008903 lung cancer oio:hasRelatedSynonym lung neoplasm DOID:1324 lung cancer lung neoplasm DOID:1324 -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung DOID:3905 lung carcinoma cancer of lung DOID:3905 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym PMM2-congenital disorder of glycosylation DOID:0080552 congenital disorder of glycosylation Ia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL PMM2-congenital disorder of glycosylation DOID:0080552 MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IIa DOID:0070253 congenital disorder of glycosylation type IIa congenital disorder of glycosylation type IIa DOID:0070253 MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym CDG2A DOID:0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2A DOID:0070253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9569,7 +9475,6 @@ MONDO:0008978 chordoma oio:hasExactSynonym chordoma DOID:3302 chordoma ch MONDO:0008978 chordoma oio:hasExactSynonym notochordoma DOID:3302 chordoma notochordoma DOID:3302 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome oio:hasExactSynonym Boucher-Neuhauser syndrome DOID:0111265 Boucher-Neuhauser syndrome Boucher-Neuhauser syndrome DOID:0111265 MONDO:0008988 citrullinemia type I oio:hasExactSynonym classic citrullinemia DOID:0070340 classic citrullinemia classic citrullinemia DOID:0070340 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym ASS deficiency DOID:9273 citrullinemia ASS deficiency DOID:9273 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym Yunis-Varon syndrome DOID:0060589 Yunis-Varon syndrome Yunis-Varon syndrome DOID:0060589 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 Yunis-Varon syndrome cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 @@ -9592,7 +9497,6 @@ MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy DOID:1116 MONDO:0009016 band keratopathy oio:hasExactSynonym band-shaped keratopathy band-shaped keratopathy Band-shaped keratopathy DOID:11164 band keratopathy band-shaped keratopathy DOID:11164 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym congenital hereditary endothelial dystrophy of cornea DOID:0060649 congenital hereditary endothelial dystrophy of cornea congenital hereditary endothelial dystrophy of cornea DOID:0060649 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED DOID:0060649 congenital hereditary endothelial dystrophy of cornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHED DOID:0060649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy DOID:2565 macular corneal dystrophy Fehr corneal dystrophy DOID:2565 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular dystrophy, corneal, 1 macular dystrophy, corneal, 1 MACULAR DYSTROPHY, CORNEAL, 1 DOID:2565 macular corneal dystrophy macular dystrophy, corneal, 1 DOID:2565 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy DOID:2565 macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy DOID:2565 @@ -9743,7 +9647,6 @@ MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym margarita type of ectodermal dysplasia margarita type of ectodermal dysplasia Margarita type of ectodermal dysplasia DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome margarita type of ectodermal dysplasia DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym Zlotogora-Ogur syndrome DOID:0080400 orofacial cleft 7 Zlotogora-Ogur syndrome DOID:0080400 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym ECTOL2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTOL2 DOID:0111149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym ectopia lentis et pupillae DOID:0111648 ectopia lentis with ectopia of pupil ectopia lentis et pupillae DOID:0111648 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym CHNG5 DOID:0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHNG5 DOID:0070125 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9883,7 +9786,6 @@ MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gaucher's disease type MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gba deficiency Gba deficiency Gba Deficiency DOID:0110957 Gaucher's disease type I Gba deficiency DOID:0110957 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I acid Beta-glucosidase deficiency DOID:0110957 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym GD I DOID:0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION GD I DOID:0110957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency acid beta-glucosidase deficiency DOID:1926 Gaucher's disease acid Beta-glucosidase deficiency DOID:1926 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher disease, acute neuronopathic type Gaucher disease, acute neuronopathic type Gaucher Disease, Acute Neuronopathic Type DOID:0110958 Gaucher's disease type II Gaucher disease, acute neuronopathic type DOID:0110958 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher's disease type II DOID:0110958 Gaucher's disease type II Gaucher's disease type II DOID:0110958 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile Cerebral Gaucher Disease DOID:0110958 Gaucher's disease type II infantile cerebral Gaucher disease DOID:0110958 @@ -10265,10 +10167,6 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym bilateral band-like calcification with polymicrogyria DOID:0050656 pseudo-TORCH syndrome 1 bilateral band-like calcification with polymicrogyria DOID:0050656 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 pseudo-TORCH syndrome 1 microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym BLC-PMG DOID:0050656 pseudo-TORCH syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION BLC-PMG DOID:0050656 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 Galloway syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 Galloway-Mowat syndrome 1 microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 nephrosis-microcephaly syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 nephrosis-neuronal dysmigration syndrome DOID:0060364 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome DOID:0080694 Galloway-Mowat syndrome Galloway-Mowat syndrome DOID:0080694 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 DOID:0060840 isolated microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOP1 DOID:0060840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym Davidson disease DOID:0060775 microvillus inclusion disease Davidson disease DOID:0060775 @@ -10296,8 +10194,8 @@ MONDO:0009650 mucolipidosis type II oio:hasExactSynonym mucolipidosis II DOID MONDO:0009653 mucolipidosis type IV oio:hasExactSynonym mucolipidosis type IV DOID:0080490 mucolipidosis type IV mucolipidosis type IV DOID:0080490 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym Sanfilippo syndrome type A DOID:0111395 mucopolysaccharidosis type IIIA Sanfilippo syndrome type A DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym heparan sulfamidase deficiency DOID:0111395 mucopolysaccharidosis type IIIA heparan sulfamidase deficiency DOID:0111395 -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 +MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type 3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 3A DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym MPS3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS3A DOID:0111395 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10329,7 +10227,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym GALNS deficienc MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA Morquio syndrome A DOID:0111391 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis IVA DOID:0111391 mucopolysaccharidosis IVA mucopolysaccharidosis IVA DOID:0111391 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym MPS4A DOID:0111391 mucopolysaccharidosis IVA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS4A DOID:0111391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV galactosamine-6-sulfatase deficiency DOID:12804 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency Beta-D-galactosidase deficiency beta-D-galactosidase deficiency DOID:0111392 mucopolysaccharidosis type IVB Beta-D-galactosidase deficiency DOID:0111392 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio disease type B DOID:0111392 mucopolysaccharidosis type IVB Morquio disease type B DOID:0111392 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio syndrome B DOID:0111392 mucopolysaccharidosis type IVB Morquio syndrome B DOID:0111392 @@ -10671,7 +10568,6 @@ MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym desquamat MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym familial desquamative interstitial pneumonitis DOID:0050158 desquamative interstitial pneumonia familial desquamative interstitial pneumonitis DOID:0050158 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 desquamative interstitial pneumonia respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym RBILD DOID:0050158 desquamative interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RBILD DOID:0050158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 polycystic kidney disease, autosomal recessive DOID:0080212 MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym AR-PKD DOID:0110861 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-PKD DOID:0110861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym Osler-Vaquez syndrome DOID:8997 polycythemia vera Osler-Vaquez syndrome DOID:8997 MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym polycythaemia rubra vera polycythaemia rubra vera Polycythaemia rubra vera DOID:8997 polycythemia vera polycythaemia rubra vera DOID:8997 @@ -10718,7 +10614,6 @@ MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis DOID:008003 MONDO:0009943 Pyle disease oio:hasExactSynonym Bakwin-Krida syndrome DOID:0080019 metaphyseal dysplasia Bakwin-Krida syndrome DOID:0080019 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle's disease DOID:0080019 metaphyseal dysplasia Pyle's disease DOID:0080019 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle-Cohn syndrome DOID:0080019 metaphyseal dysplasia Pyle-Cohn syndrome DOID:0080019 -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym antiquitin deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 antiquitin deficiency DOID:0070519 MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyridoxine-dependent epilepsy DOID:0080768 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym deficiency of pyruvic carboxylase DOID:3651 pyruvate carboxylase deficiency disease deficiency of pyruvic carboxylase DOID:3651 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease DOID:3651 pyruvate carboxylase deficiency disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyruvate carboxylase deficiency disease DOID:3651 @@ -10726,7 +10621,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 pyruvate kinase deficiency of red cells hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte DOID:0111077 pyruvate kinase deficiency of red cells pyruvate kinase deficiency of erythrocyte DOID:0111077 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells DOID:0111077 pyruvate kinase deficiency of red cells pyruvate kinase deficiency of red cells DOID:0111077 -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome DOID:0070255 congenital disorder of glycosylation type IIc Rambam-Hasharon syndrome DOID:0070255 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG IIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDGIIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDGIIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10759,7 +10653,6 @@ MONDO:0009973 reticular dysgenesis oio:hasRelatedSynonym aleukocytosis DOID:0 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym FHL1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHL1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HPLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma interdigitating cell sarcoma Interdigitating cell sarcoma DOID:7848 interdigitating dendritic cell sarcoma interdigitating cell sarcoma DOID:7848 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym histiocytic lymphoma DOID:8538 reticulosarcoma histiocytic lymphoma DOID:8538 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym large-cell Lymphomas DOID:8538 reticulosarcoma large-cell Lymphomas DOID:8538 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym reticulosarcoma DOID:8538 reticulosarcoma reticulosarcoma DOID:8538 @@ -10789,7 +10682,6 @@ MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS DOID:0070509 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome DOID:0050168 autoimmune polyendocrine syndrome type 2 Schmidt syndrome DOID:0050168 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym autoimmune polyendocrine syndrome type 2 DOID:0050168 autoimmune polyendocrine syndrome type 2 autoimmune polyendocrine syndrome type 2 DOID:0050168 MONDO:0010013 schneckenbecken dysplasia oio:hasExactSynonym schneckenbecken dysplasia DOID:0050775 schneckenbecken dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schneckenbecken dysplasia DOID:0050775 -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis sclerocornea with other ocular anomalies DOID:0060648 MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym anterior segment dysgenesis 7 DOID:0080612 anterior segment dysgenesis 7 anterior segment dysgenesis 7 DOID:0080612 MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym sclerosteosis 1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sclerosteosis 1 DOID:0060756 MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym SOST1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOST1 DOID:0060756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10893,7 +10785,6 @@ MONDO:0010088 mucosulfatidosis oio:hasExactSynonym mucosulfatidosis DOID:0050 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym Sulfocysteinuria Sulfocysteinuria sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency Sulfocysteinuria DOID:0111270 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency sulfocysteinuria DOID:0111270 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym isolated sulfite oxidase deficiency DOID:0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL isolated sulfite oxidase deficiency DOID:0111270 -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym Crisponi syndrome DOID:0060294 cold-induced sweating syndrome Crisponi syndrome DOID:0060294 MONDO:0010092 Filippi syndrome oio:hasExactSynonym Filippi syndrome DOID:0112194 Filippi syndrome Filippi syndrome DOID:0112194 MONDO:0010092 Filippi syndrome oio:hasExactSynonym type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 Filippi syndrome type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 MONDO:0010094 spondylocarpotarsal synostosis syndrome oio:hasExactSynonym congenital scoliosis with unilateral unsegmented bar DOID:0090116 spondylocarpotarsal synostosis syndrome congenital scoliosis with unilateral unsegmented bar DOID:0090116 @@ -10987,7 +10878,6 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSy MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria and homocystinuria type cblC DOID:0050715 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym cobalamin D deficiency cobalamin D deficiency Cobalamin D deficiency DOID:0050716 methylmalonic aciduria and homocystinuria type cblD cobalamin D deficiency DOID:0050716 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria and homocystinuria type cblD DOID:0050716 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym ataxia with isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E ataxia with isolated vitamin E deficiency DOID:0090028 MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym familial isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E familial isolated vitamin E deficiency DOID:0090028 MONDO:0010191 von Willebrand disease 3 oio:hasExactSynonym VWD type 3 DOID:0111054 von Willebrand's disease 3 VWD type 3 DOID:0111054 @@ -11199,8 +11089,8 @@ MONDO:0010300 intellectual disability, X-linked 53 oio:hasExactSynonym MRX53 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym Hypomelanosis of Ito Hypomelanosis of Ito hypomelanosis of Ito DOID:3156 hypomelanosis of Ito Hypomelanosis of Ito DOID:3156 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym hypomelanosis of Ito DOID:3156 hypomelanosis of Ito hypomelanosis of Ito DOID:3156 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym SLC6A8 deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 SLC6A8 deficiency DOID:0050800 -MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 +MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym creatine transporter deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL creatine transporter deficiency DOID:0050800 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym syndromic X-linked intellectual disability Cabezas type DOID:0060822 syndromic X-linked intellectual disability Cabezas type syndromic X-linked intellectual disability Cabezas type DOID:0060822 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 @@ -11215,7 +11105,6 @@ MONDO:0010309 intellectual disability, X-linked 42 oio:hasExactSynonym MRX42 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome DOID:0060886 osteopathia striata with cranial sclerosis Robinow-Unger syndrome DOID:0060886 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations DOID:0060886 osteopathia striata with cranial sclerosis hyperostosis generalisata with striations DOID:0060886 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym osteopathia striata with cranial sclerosis DOID:0060886 osteopathia striata with cranial sclerosis osteopathia striata with cranial sclerosis DOID:0060886 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD DOID:0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD DOID:0070527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy DOID:9883 Becker muscular dystrophy Becker muscular dystrophy DOID:9883 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy DOID:9883 Becker muscular dystrophy benign congenital myopathy DOID:9883 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign pseudohypertrophic muscular dystrophy benign pseudohypertrophic muscular dystrophy Benign pseudohypertrophic muscular dystrophy DOID:9883 Becker muscular dystrophy benign pseudohypertrophic muscular dystrophy DOID:9883 @@ -11431,7 +11320,6 @@ MONDO:0010478 SLC35A2-congenital disorder of glycosylation oio:hasExactSynonym MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym CMTX6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTX6 DOID:0110207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010481 angioedema oio:hasExactSynonym Quincke edema DOID:0060002 C1 inhibitor deficiency Quincke edema DOID:0060002 MONDO:0010481 angioedema oio:hasExactSynonym Quincke's edema DOID:1558 angioedema Quincke's edema DOID:1558 MONDO:0010481 angioedema oio:hasExactSynonym giant urticaria DOID:1558 angioedema giant urticaria DOID:1558 MONDO:0010482 X-linked parkinsonism-spasticity syndrome oio:hasExactSynonym XPDS DOID:0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XPDS DOID:0112105 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11481,13 +11369,10 @@ MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis imperfecta type IE DOID:0110058 amelogenesis imperfecta type 1E amelogenesis imperfecta type IE DOID:0110058 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym AIH1 DOID:0110058 amelogenesis imperfecta type 1E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIH1 DOID:0110058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E X-linked enamel hypoplasia DOID:0110058 -MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 X-linked enamel hypoplasia DOID:0110059 -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E X-linked enamel hypoplasia DOID:0110058 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta 3 hypoplastic type DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#DEPRECATED amelogenesis imperfecta 3 hypoplastic type DOID:0110059 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym AIH3 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIH3 DOID:0110059 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 X-linked enamel hypoplasia DOID:0110059 MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym Partington disease DOID:0111834 X-linked reticulate pigmentary disorder Partington disease DOID:0111834 -MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym PDR DOID:13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDR DOID:13207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia and ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and ataxia DOID:0050554 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia with ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia with ataxia DOID:0050554 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym anemia sideroblastic and spinocerebellar ataxia anemia sideroblastic and spinocerebellar ataxia Anemia sideroblastic and spinocerebellar ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia anemia sideroblastic and spinocerebellar ataxia DOID:0050554 @@ -11636,7 +11521,6 @@ MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogen storag MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogenosis type VIII DOID:2751 glycogen storage disease VIII glycogenosis type VIII DOID:2751 MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym hepatic glycogen phosphorylase kinase deficiency DOID:2751 glycogen storage disease VIII hepatic glycogen phosphorylase kinase deficiency DOID:2751 MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CDGX DOID:0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDGX DOID:0070195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CGD DOID:3265 chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD DOID:3265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010602 hemophilia A oio:hasExactSynonym Subhemophilia DOID:12134 factor VIII deficiency Subhemophilia DOID:12134 MONDO:0010602 hemophilia A oio:hasExactSynonym congenital factor VIII disorder congenital factor VIII disorder Congenital factor VIII disorder DOID:12134 factor VIII deficiency congenital factor VIII disorder DOID:12134 MONDO:0010602 hemophilia A oio:hasExactSynonym factor VIII deficiency DOID:12134 factor VIII deficiency factor VIII deficiency DOID:12134 @@ -11673,7 +11557,6 @@ MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked placen MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked recessive ichthyosis DOID:1700 X-linked ichthyosis X-linked recessive ichthyosis DOID:1700 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym X-linked hyper-IgM syndrome DOID:0060022 CD40 ligand deficiency X-linked hyper-IgM syndrome DOID:0060022 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGMX-1 DOID:0060022 CD40 ligand deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIGMX-1 DOID:0060022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome hyperimmunoglobulin M syndrome DOID:0080544 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyper-IgM syndrome type 1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hyper-IgM syndrome type 1 DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGM1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIGM1 DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym Bloch-Sulzberger syndrome DOID:12305 Bloch-Sulzberger syndrome Bloch-Sulzberger syndrome DOID:12305 @@ -11725,10 +11608,6 @@ MONDO:0010667 Prieto syndrome oio:hasExactSynonym X-linked intellectual disabil MONDO:0010669 syndactyly type 8 oio:hasExactSynonym fusion of metacarpals 4 and 5 DOID:0111813 syndactyly type 8 fusion of metacarpals 4 and 5 DOID:0111813 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym Lenz dysplasia DOID:0111799 syndromic microphthalmia 1 Lenz dysplasia DOID:0111799 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 DOID:0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS1 DOID:0111799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 MIDAS syndrome DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym syndromic microphthalmia type 7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 syndromic microphthalmia type 7 DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MCOPS7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS7 DOID:0111808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MLS syndrome DOID:0111875 MLS syndrome MLS syndrome DOID:0111875 MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies DOID:0111875 MLS syndrome linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome DOID:12799 mucopolysaccharidosis II Hunter syndrome DOID:12799 @@ -11813,7 +11692,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS DOID:0060763 X- MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett's disorder DOID:1206 Rett syndrome Rett's disorder DOID:1206 MONDO:0010726 Rett syndrome oio:hasExactSynonym cerebroatrophic hyperammonemia DOID:1206 Rett syndrome cerebroatrophic hyperammonemia DOID:1206 MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome DOID:1206 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome DOID:1206 -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS DOID:2732 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS DOID:2732 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym X-linked spastic paraplegia 2 DOID:0110773 hereditary spastic paraplegia 2 X-linked spastic paraplegia 2 DOID:0110773 MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym spastic paraplegia type 2 DOID:0110773 hereditary spastic paraplegia 2 spastic paraplegia type 2 DOID:0110773 MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym SPG2 DOID:0110773 hereditary spastic paraplegia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG2 DOID:0110773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11866,7 +11744,6 @@ MONDO:0010800 Wolfram syndrome, mitochondrial form oio:hasExactSynonym Wolfram MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym Yorifuji-Okuno syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Yorifuji-Okuno syndrome DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 MONDO:0010803 Eiken syndrome oio:hasExactSynonym Eiken syndrome DOID:0111732 Eiken syndrome Eiken syndrome DOID:0111732 -MONDO:0010805 bladder exstrophy oio:hasExactSynonym Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex bladder exstrophy-epispadias-cloacal exstrophy complex DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex DOID:0080173 MONDO:0010805 bladder exstrophy oio:hasExactSynonym bladder exstrophy DOID:0080174 bladder exstrophy bladder exstrophy DOID:0080174 MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym retinitis pigmentosa 13 DOID:0110403 retinitis pigmentosa 13 retinitis pigmentosa 13 DOID:0110403 MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym RP13 DOID:0110403 retinitis pigmentosa 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP13 DOID:0110403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11966,8 +11843,6 @@ MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym f MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym pituitary adenoma, prolactin-secreting pituitary adenoma, prolactin-secreting PITUITARY ADENOMA, PROLACTIN-SECRETING DOID:5394 prolactinoma pituitary adenoma, prolactin-secreting DOID:5394 MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma DOID:5394 prolactinoma prolactinoma DOID:5394 MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma of pituitary gland prolactinoma of pituitary gland Prolactinoma of Pituitary gland DOID:5394 prolactinoma prolactinoma of pituitary gland DOID:5394 -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym Pkd3 Pkd3 pkd3 DOID:0080212 polycystic kidney disease 4 Pkd3 DOID:0080212 -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKD3 DOID:0080212 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease 3 DOID:0110860 polycystic kidney disease 3 polycystic kidney disease 3 DOID:0110860 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease, adult, type III polycystic kidney disease, adult, type III Polycystic Kidney Disease, Adult, Type III DOID:0110860 polycystic kidney disease 3 polycystic kidney disease, adult, type III DOID:0110860 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym APKD3 Apkd3 APKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION APKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11978,7 +11853,6 @@ MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym famili MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym hypocalciuric hypercalcemia type III DOID:0060702 familial hypocalciuric hypercalcemia 3 hypocalciuric hypercalcemia type III DOID:0060702 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym HHC3 DOID:0060702 familial hypocalciuric hypercalcemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHC3 DOID:0060702 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010927 orofacial cleft 3 oio:hasExactSynonym orofacial cleft 3 DOID:0080397 orofacial cleft 3 orofacial cleft 3 DOID:0080397 -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct enlarged vestibular aqueduct DOID:0050332 MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 oio:hasExactSynonym FTD3 DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FTD3 DOID:0111227 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010943 schizophrenia 4 oio:hasExactSynonym schizophrenia 4 DOID:0070080 schizophrenia 4 schizophrenia 4 DOID:0070080 MONDO:0010943 schizophrenia 4 oio:hasExactSynonym SCZD4 DOID:0070080 schizophrenia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD4 DOID:0070080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12012,7 +11886,6 @@ MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSyno MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym obesity with impaired prohormone processing DOID:0111698 proprotein convertase 1/3 deficiency obesity with impaired prohormone processing DOID:0111698 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym nonepidermolytic palmoplantar keratoderma DOID:0050428 nonepidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma DOID:0050428 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym NEPPK DOID:0050428 nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEPPK DOID:0050428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 Bothnian type palmoplantar keratoderma diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis Fraccaro type DOID:0080055 achondrogenesis type IB achondrogenesis Fraccaro type DOID:0080055 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis type IB DOID:0080055 achondrogenesis type IB http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achondrogenesis type IB DOID:0080055 MONDO:0010969 cone-rod dystrophy 5 oio:hasExactSynonym cone-rod dystrophy 5 DOID:0111010 cone-rod dystrophy 5 cone-rod dystrophy 5 DOID:0111010 @@ -12323,8 +12196,8 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym congenital m MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS Ic DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS Ic DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS5 DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS5 DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym EAD DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EAD DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 +MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 MONDO:0011284 astigmatism oio:hasExactSynonym astigmatism DOID:11782 astigmatism astigmatism DOID:11782 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym age related maculopathy 1 DOID:0110014 age related macular degeneration 1 age related maculopathy 1 DOID:0110014 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym ARMD1 DOID:0110014 age related macular degeneration 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMD1 DOID:0110014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12700,7 +12573,6 @@ MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS1A1 DO MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A DOID:0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS4A DOID:0110678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy DOID:0080718 GNE myopathy Nonaka myopathy DOID:0080718 MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy, Nonaka type distal myopathy, Nonaka type Distal myopathy, Nonaka type DOID:0080718 GNE myopathy distal myopathy, Nonaka type DOID:0080718 -MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy with rimmed vacuoles DOID:0081363 distal myopathy with rimmed vacuoles distal myopathy with rimmed vacuoles DOID:0081363 MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym atopic dermatitis 5 DOID:0110101 atopic dermatitis 5 atopic dermatitis 5 DOID:0110101 MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym ATOD5 DOID:0110101 atopic dermatitis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATOD5 DOID:0110101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym atopic dermatitis 6 DOID:0110102 atopic dermatitis 6 atopic dermatitis 6 DOID:0110102 @@ -12796,7 +12668,6 @@ MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 oio:hasExactSynonym MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 DOID:0060195 amyotrophic lateral sclerosis type 3 amyotrophic lateral sclerosis 3 DOID:0060195 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15 DOID:0050965 spinocerebellar ataxia type 15 spinocerebellar ataxia type 15 DOID:0050965 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 16 DOID:0050965 spinocerebellar ataxia type 15 spinocerebellar ataxia type 16 DOID:0050965 -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 DOID:0080029 autosomal recessive spinocerebellar ataxia 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 DOID:0080029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym Waardenburg syndrome type IIC DOID:0110951 Waardenburg syndrome type 2C Waardenburg syndrome type IIC DOID:0110951 MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym WS2C DOID:0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WS2C DOID:0110951 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym GNMT deficiency DOID:0111037 glycine N-methyltransferase deficiency GNMT deficiency DOID:0111037 @@ -12835,7 +12706,6 @@ MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym gastrointestin MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GANT gant GANT DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GANT DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GIST gist GIST DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GIST DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym spermatogenic failure 3 DOID:0070168 spermatogenic failure 3 spermatogenic failure 3 DOID:0070168 -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym Glucose Transporter Type 1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Syndrome glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome Glucose Transporter Type 1 Deficiency Syndrome DOID:0070560 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym De Vivo disease DOID:0070561 glucose transporter type 1 deficiency syndrome 1 De Vivo disease DOID:0070561 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym encephalopathy due to GLUT1 deficiency DOID:0070561 glucose transporter type 1 deficiency syndrome 1 encephalopathy due to GLUT1 deficiency DOID:0070561 MONDO:0011728 benign essential blepharospasm oio:hasExactSynonym blepharospasm DOID:529 blepharospasm blepharospasm DOID:529 @@ -12862,11 +12732,9 @@ MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym nephronophthisis 4 DOID: MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym NPHP4 DOID:0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHP4 DOID:0111115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 oio:hasExactSynonym EIG2 DOID:0111317 idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EIG2 DOID:0111317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011757 brachydactyly type A1B oio:hasExactSynonym BDA1B DOID:0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDA1B DOID:0110974 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011758 Hurler syndrome oio:hasExactSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hurler syndrome DOID:12802 MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1H/S mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1H/S DOID:0111389 mucopolysaccharidosis Ih/s mucopolysaccharidosis type 1H/S DOID:0111389 MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPS1H/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS1H/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPSIH/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSIH/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym Hurler-Scheie syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hurler-Scheie syndrome DOID:12802 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1S DOID:0060222 Scheie syndrome mucopolysaccharidosis type 1S DOID:0060222 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type IS DOID:0060222 Scheie syndrome mucopolysaccharidosis type IS DOID:0060222 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type V DOID:0060222 Scheie syndrome mucopolysaccharidosis type V DOID:0060222 @@ -12881,7 +12749,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym dSMA3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION dSMA3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IId DOID:0070256 congenital disorder of glycosylation type IId congenital disorder of glycosylation type IId DOID:0070256 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2D DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 spondylometaepiphyseal dysplasia, Menger type DOID:0050640 MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia anauxetic dysplasia DOID:0080942 MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome CINCA Syndrome DOID:0090029 CINCA Syndrome CINCA syndrome DOID:0090029 MONDO:0011776 CINCA syndrome oio:hasExactSynonym IOMID syndrome DOID:0090029 CINCA Syndrome IOMID syndrome DOID:0090029 @@ -13052,7 +12919,6 @@ MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym monilethrix-like hypotrichosi MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym hypotrichosis 6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypotrichosis 6 DOID:0110703 MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym LAH1 Lah1 LAH1 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LAH1 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym HYPT6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT6 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011933 ALG2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ii congenital disorder of glycosylation type Ii congenital disorder of glycosylation type II DOID:0050571 congenital disorder of glycosylation type II congenital disorder of glycosylation type Ii DOID:0050571 MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibrosarcoma protuberans DOID:3507 dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans DOID:3507 MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym retinitis pigmentosa 30 DOID:0110406 retinitis pigmentosa 30 retinitis pigmentosa 30 DOID:0110406 MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym RP30 DOID:0110406 retinitis pigmentosa 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP30 DOID:0110406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13257,7 +13123,6 @@ MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasE MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym SMD-CRD SmD-CRD SMD-CRD DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMD-CRD DOID:0112300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 patterned macular dystrophy 2 butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 DOID:0060864 patterned macular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDPT2 DOID:0060864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive DOID:0090014 MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA DOID:0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADSA DOID:0111170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13504,9 +13369,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym spinocerebella MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia 31 DOID:0110782 hereditary spastic paraplegia 31 autosomal dominant spastic paraplegia 31 DOID:0110782 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 DOID:0110782 hereditary spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 DOID:0110782 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 DOID:0110782 hereditary spastic paraplegia 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 DOID:0110782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome DOID:0060352 Kleefstra syndrome 1 9Q subtelomeric deletion syndrome DOID:0060352 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 9q-syndrome DOID:0060352 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q34 deletion syndrome DOID:0060352 Kleefstra syndrome 1 9q34 deletion syndrome DOID:0060352 MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome DOID:0080597 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary aphakia, congenital primary APHAKIA, CONGENITAL PRIMARY DOID:11367 congenital aphakia aphakia, congenital primary DOID:11367 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym congenital absence of lens congenital absence of lens Congenital absence of lens DOID:11367 congenital aphakia congenital absence of lens DOID:11367 @@ -14199,7 +14061,6 @@ MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O oio:has MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym LGMD2N DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LGMD2N DOID:0110298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym MDDGC2 DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDDGC2 DOID:0112382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym nephronophthisis-like nephropathy 1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nephronophthisis-like nephropathy 1 DOID:0111117 MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym NPHPL1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHPL1 DOID:0111117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym autosomal recessive spastic paraplegia 45 DOID:0110797 hereditary spastic paraplegia 45 autosomal recessive spastic paraplegia 45 DOID:0110797 @@ -15238,8 +15099,6 @@ MONDO:0014145 Leber congenital amaurosis 17 oio:hasExactSynonym LCA17 DOID:01 MONDO:0014146 autosomal dominant hypocalcemia 2 oio:hasExactSynonym HYPOC2 DOID:0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPOC2 DOID:0090108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym CLN13 DOID:0110727 neuronal ceroid lipofuscinosis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLN13 DOID:0110727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym childhood onset epileptic encephalopathy DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL childhood onset epileptic encephalopathy DOID:0060475 -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym EEOC DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEOC DOID:0060475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym developmental and epileptic encephalopathy 94 DOID:0081325 developmental and epileptic encephalopathy 94 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym cone-rod dystrophy 18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy 18 DOID:0111024 MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym CORD18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD18 DOID:0111024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15406,7 +15265,6 @@ MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 D MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 late onset DOID:0110051 Alzheimer's disease 19 Alzheimer disease 19 late onset DOID:0110051 MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer's disease 19 DOID:0110051 Alzheimer's disease 19 Alzheimer's disease 19 DOID:0110051 MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym AD19 DOID:0110051 Alzheimer's disease 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD19 DOID:0110051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym optic atrophy-intellectual disability syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome optic atrophy-intellectual disability syndrome DOID:0112226 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym BBSOAS DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BBSOAS DOID:0112226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15908,8 +15766,6 @@ MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynon MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 combined oxidative phosphorylation deficiency 28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym COXPD28 DOID:0111470 combined oxidative phosphorylation deficiency 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD28 DOID:0111470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014776 spinocerebellar ataxia type 42 oio:hasExactSynonym SCA42 DOID:0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA42 DOID:0111742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym HPMRS6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPMRS6 DOID:0070436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym combined oxidative phosphorylation deficiency 29 DOID:0111501 combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 29 DOID:0111501 MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym COXPD29 DOID:0111501 combined oxidative phosphorylation deficiency 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD29 DOID:0111501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2X DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X muscular dystrophy, limb-girdle, type 2X DOID:0110290 @@ -16115,9 +15971,7 @@ MONDO:0015131 combined immunodeficiency oio:hasExactSynonym combined immunodefi MONDO:0015131 combined immunodeficiency oio:hasExactSynonym congenital combined immunodeficiency congenital combined immunodeficiency Congenital Combined Immunodeficiency DOID:628 combined T cell and B cell immunodeficiency congenital combined immunodeficiency DOID:628 MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy DOID:0110273 autosomal dominant limb-girdle muscular dystrophy autosomal dominant limb-girdle muscular dystrophy DOID:0110273 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy DOID:0110274 autosomal recessive limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL autosomal recessive limb-girdle muscular dystrophy DOID:0110274 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita DOID:0050646 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita DOID:0080954 -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015183 short bowel syndrome oio:hasExactSynonym acquired short bowel syndrome DOID:10605 short bowel syndrome acquired short bowel syndrome DOID:10605 MONDO:0015183 short bowel syndrome oio:hasExactSynonym short gut syndrome DOID:10605 short bowel syndrome short gut syndrome DOID:10605 MONDO:0015194 sideroblastic anemia oio:hasExactSynonym anemia sideroblastic anemia sideroblastic ANEMIA SIDEROBLASTIC DOID:8955 sideroblastic anemia anemia sideroblastic DOID:8955 @@ -16135,8 +15989,6 @@ MONDO:0015243 allergic bronchopulmonary aspergillosis oio:hasExactSynonym pulmo MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Blackfan - Diamond syndrome DOID:1339 Diamond-Blackfan anemia Blackfan - Diamond syndrome DOID:1339 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym chronic constitutional pure red cell anaemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/OMO_0003005 chronic constitutional pure red cell anaemia DOID:1339 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Diamond-Blackfan anemia DOID:1339 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anemia DOID:1342 congenital hypoplastic anemia congenital hypoplastic anemia DOID:1342 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 congenital hypoplastic anaemia DOID:1342 MONDO:0015254 schistosomiasis oio:hasExactSynonym schistosomiasis DOID:1395 schistosomiasis schistosomiasis DOID:1395 MONDO:0015260 diphyllobothriasis oio:hasExactSynonym Diphyllobothrium infection DOID:10075 diphyllobothriasis Diphyllobothrium infection DOID:10075 MONDO:0015260 diphyllobothriasis oio:hasExactSynonym fish tapeworm DOID:10075 diphyllobothriasis fish tapeworm DOID:10075 @@ -16154,7 +16006,6 @@ MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic b MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 bronchiolitis obliterans organising pneumonia DOID:0050157 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym cryptogenic organising pneumonitis cryptogenic organising pneumonitis Cryptogenic organising pneumonitis DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 cryptogenic organising pneumonitis DOID:0050157 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOOP DOID:0050157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym bronchiolitis fibrosa obliterans bronchiolitis fibrosa obliterans Bronchiolitis fibrosa obliterans DOID:2799 bronchiolitis obliterans bronchiolitis fibrosa obliterans DOID:2799 MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome DOID:0060464 Feingold syndrome MODED syndrome DOID:0060464 MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome DOID:0060464 Feingold syndrome ODED syndrome DOID:0060464 @@ -16171,7 +16022,6 @@ MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym parafollicu MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym thyroid gland medullary carcinoma DOID:3973 medullary thyroid carcinoma thyroid gland medullary carcinoma DOID:3973 MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumor ultimobranchial thyroid tumor Ultimobranchial thyroid tumor DOID:3973 medullary thyroid carcinoma ultimobranchial thyroid tumor DOID:3973 MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumour ultimobranchial thyroid tumour Ultimobranchial thyroid tumour DOID:3973 medullary thyroid carcinoma http://purl.obolibrary.org/obo/OMO_0003005 ultimobranchial thyroid tumour DOID:3973 -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC DOID:0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMC DOID:0111529 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym chronic mucocutaneous candidiasis DOID:2058 chronic mucocutaneous candidiasis chronic mucocutaneous candidiasis DOID:2058 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome CFC syndrome DOID:0060233 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardio-facial-cutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome cardio-facial-cutaneous syndrome DOID:0060233 @@ -16189,7 +16039,6 @@ MONDO:0015306 Lemierre syndrome oio:hasExactSynonym postanginal sepsis DOID:1 MONDO:0015306 Lemierre syndrome oio:hasRelatedSynonym acute sore throat DOID:11337 Lemierre's syndrome acute sore throat DOID:11337 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym lipoid dermatoarthritis lipoid dermatoarthritis Lipoid dermatoarthritis DOID:11824 multicentric reticulohistiocytosis lipoid dermatoarthritis DOID:11824 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis DOID:11824 multicentric reticulohistiocytosis multicentric reticulohistiocytosis DOID:11824 -MONDO:0015352 distal hereditary motor neuropathy type 2 oio:hasExactSynonym DSMA2 dSMA2 DSMA2 DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSMA2 DOID:0111065 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym dHMN7 DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION dHMN7 DOID:0111199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasExactSynonym autosomal dominant dHMN DOID:0111198 autosomal dominant distal hereditary motor neuronopathy autosomal dominant dHMN DOID:0111198 @@ -16198,7 +16047,6 @@ MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasE MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy DOID:0111197 autosomal recessive distal hereditary motor neuronopathy autosomal recessive distal spinal muscular atrophy DOID:0111197 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy DOID:0050548 hereditary sensory neuropathy hereditary sensory and autonomic neuropathy DOID:0050548 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory neuropathy DOID:0050548 hereditary sensory neuropathy hereditary sensory neuropathy DOID:0050548 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain DOID:0081075 Marsili syndrome congenital insensitivity to pain DOID:0081075 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome Oral-Facial-Digital Syndrome DOID:4501 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome oral-facial-digital syndrome DOID:4501 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome DOID:4501 orofaciodigital syndrome orofaciodigital syndrome DOID:4501 @@ -16213,7 +16061,6 @@ MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia D MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome desbuquois syndrome Desbuquois syndrome DOID:0060462 Desbuquois dysplasia desbuquois syndrome DOID:0060462 MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 Desbuquois dysplasia micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 MONDO:0015447 differentiated thyroid carcinoma oio:hasExactSynonym differentiated thyroid gland carcinoma DOID:0080525 differentiated high-grade thyroid carcinoma differentiated thyroid gland carcinoma DOID:0080525 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 fifth digit syndrome DOID:0070042 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym dwarfism-onychodysplasia dwarfism-onychodysplasia Dwarfism-Onychodysplasia DOID:1925 Coffin-Siris syndrome dwarfism-onychodysplasia DOID:1925 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome fifth digit syndrome DOID:1925 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym short stature-onychodysplasia. short stature-onychodysplasia. Short Stature-Onychodysplasia. DOID:1925 Coffin-Siris syndrome short stature-onychodysplasia. DOID:1925 @@ -16221,7 +16068,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome DOID:0060216 Cogan syndrome Cogan syndrome DOID:0060216 MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan's syndrome DOID:0060216 Cogan syndrome Cogan's syndrome DOID:0060216 MONDO:0015453 Cogan syndrome oio:hasExactSynonym diffuse interstitual keratitis DOID:0060216 Cogan syndrome diffuse interstitual keratitis DOID:0060216 -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency multiple carboxylase deficiency DOID:857 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma DOID:9261 nasopharynx carcinoma nasopharyngeal carcinoma DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharynx carcinoma DOID:9261 nasopharynx carcinoma nasopharynx carcinoma DOID:9261 @@ -16272,12 +16118,10 @@ MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynony MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS DOID:0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VEODS DOID:0111840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015609 advanced sleep phase syndrome oio:hasExactSynonym familial advanced sleep-phase syndrome DOID:0050628 advanced sleep phase syndrome familial advanced sleep-phase syndrome DOID:0050628 MONDO:0015612 Dent disease oio:hasExactSynonym Dent's disease DOID:0050699 Dent disease Dent's disease DOID:0050699 -MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets DOID:0080353 X-linked recessive hypophosphatemic rickets X-linked recessive hypophosphatemic rickets DOID:0080353 MONDO:0015613 dentin dysplasia oio:hasExactSynonym dentinal dysplasia dentinal dysplasia Dentinal dysplasia DOID:701 dentin dysplasia dentinal dysplasia DOID:701 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym Duhring's disease DOID:8505 dermatitis herpetiformis Duhring's disease DOID:8505 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatitis herpetiformis DOID:8505 dermatitis herpetiformis dermatitis herpetiformis DOID:8505 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatosis herpetiformis dermatosis herpetiformis Dermatosis herpetiformis DOID:8505 dermatitis herpetiformis dermatosis herpetiformis DOID:8505 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy DOID:0110152 Charcot-Marie-Tooth disease type 1B peroneal muscular atrophy DOID:0110152 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym CMT - Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease CMT - Charcot-Marie-Tooth disease DOID:10595 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease DOID:10595 MONDO:0015636 dirofilariasis oio:hasExactSynonym Dirofilaria infectious disease DOID:1082 dirofilariasis Dirofilaria infectious disease DOID:1082 @@ -16303,8 +16147,6 @@ MONDO:0015696 Good syndrome oio:hasExactSynonym thymoma with hypogammaglobuline MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy DOID:624 transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy DOID:624 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency oio:hasExactSynonym CD45 deficiency DOID:0060014 CD45 deficiency CD45 deficiency DOID:0060014 MONDO:0015705 autosomal recessive centronuclear myopathy oio:hasExactSynonym AR-CNM DOID:0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-CNM DOID:0111216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym Male infertility due to round-headed spermatozoa Male infertility due to round-headed spermatozoa male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 Male infertility due to round-headed spermatozoa DOID:0111156 -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 male infertility due to round-headed spermatozoa DOID:0111156 MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to globozoospermia DOID:0112312 male infertility due to globozoospermia male infertility due to globozoospermia DOID:0112312 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus White sponge nevus of Cannon DOID:0050448 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym hereditary mucosal leukokeratosis DOID:0050448 white sponge nevus hereditary mucosal leukokeratosis DOID:0050448 @@ -16317,7 +16159,6 @@ MONDO:0015766 cholera oio:hasExactSynonym cholera - Vibrio cholerae cholera - V MONDO:0015766 cholera oio:hasExactSynonym cholera due to Vibrio cholerae cholera due to Vibrio cholerae Cholera due to Vibrio cholerae DOID:1498 cholera cholera due to Vibrio cholerae DOID:1498 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata chondrodysplasia punctata, rhizomelic form DOID:2580 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata DOID:2580 rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL rhizomelic chondrodysplasia punctata DOID:2580 -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis oio:hasExactSynonym Mixed gonadal dysgenesis Mixed gonadal dysgenesis mixed gonadal dysgenesis DOID:14449 mixed gonadal dysgenesis Mixed gonadal dysgenesis DOID:14449 MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita DOID:2729 dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dyskeratosis congenita DOID:2729 MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor DOID:0050905 inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor DOID:0050905 MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym autosomal dominant non-syndromic mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal dominant non-syndromic mental retardation DOID:0060307 @@ -16357,7 +16198,6 @@ MONDO:0016006 Cockayne syndrome oio:hasExactSynonym Neill-Dingwall syndrome D MONDO:0016006 Cockayne syndrome oio:hasRelatedSynonym Cockayne's syndrome DOID:2962 Cockayne syndrome Cockayne's syndrome DOID:2962 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym alcohol-related neurodevelopmental disorder DOID:0050667 alcohol-related neurodevelopmental disorder alcohol-related neurodevelopmental disorder DOID:0050667 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARND DOID:0050667 alcohol-related neurodevelopmental disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARND DOID:0050667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym early myoclonic encephalopathy DOID:308 early myoclonic encephalopathy early myoclonic encephalopathy DOID:308 MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures - myoclonic epileptic seizures - myoclonic Epileptic seizures - myoclonic DOID:308 early myoclonic encephalopathy epileptic seizures - myoclonic DOID:308 MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures, myoclonic epileptic seizures, myoclonic Epileptic seizures, myoclonic DOID:308 early myoclonic encephalopathy epileptic seizures, myoclonic DOID:308 @@ -16407,7 +16247,6 @@ MONDO:0016239 cystinosis oio:hasExactSynonym cystine storage disease DOID:106 MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis DOID:1064 cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cystinosis DOID:1064 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood DOID:0050635 alternating hemiplegia of childhood alternating hemiplegia of childhood DOID:0050635 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia congenital adrenal hypoplasia DOID:0080156 X-linked adrenal hypoplasia congenita congenital adrenal Hypoplasia DOID:0080156 MONDO:0016242 hemoglobin C disease oio:hasExactSynonym Hb-C disease DOID:2859 hemoglobin C disease Hb-C disease DOID:2859 MONDO:0016243 hemoglobin E disease oio:hasExactSynonym Hb-E disease DOID:5379 hemoglobin E disease Hb-E disease DOID:5379 MONDO:0016243 hemoglobin E disease oio:hasExactSynonym hemoglobin E disease DOID:5379 hemoglobin E disease hemoglobin E disease DOID:5379 @@ -16516,7 +16355,6 @@ MONDO:0016681 gliosarcoma oio:hasExactSynonym gliosarcoma DOID:3071 gliosarco MONDO:0016682 giant cell glioblastoma oio:hasExactSynonym Monstrocellular sarcoma DOID:3074 giant cell glioblastoma Monstrocellular sarcoma DOID:3074 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym astrocytosis cerebri astrocytosis cerebri Astrocytosis cerebri DOID:6128 gliomatosis cerebri astrocytosis cerebri DOID:6128 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri DOID:6128 gliomatosis cerebri gliomatosis cerebri DOID:6128 -MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym malignant astrocytoma DOID:3069 malignant astrocytoma malignant astrocytoma DOID:3069 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym anaplastic astrocytoma DOID:3078 anaplastic astrocytoma anaplastic astrocytoma DOID:3078 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytic tumor grade III astrocytic tumor grade III Astrocytic tumor DOID:3078 anaplastic astrocytoma grade III astrocytic tumor DOID:3078 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytoma DOID:3078 anaplastic astrocytoma grade III astrocytoma DOID:3078 @@ -16573,7 +16411,6 @@ MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumor MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 malignant triton tumor malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumour DOID:6707 malignant triton tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant Triton tumour DOID:6707 MONDO:0016759 pontocerebellar hypoplasia type 2 oio:hasExactSynonym PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia DOID:0050813 MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia DOID:0112280 MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia DOID:0112295 @@ -16647,8 +16484,6 @@ MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Lloyd's syndrom MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome DOID:14040 autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome DOID:14040 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy DOID:14040 autoimmune polyendocrine syndrome autoimmune polyendocrinopathy DOID:14040 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure DOID:14040 autoimmune polyendocrine syndrome autoimmune polyglandular failure DOID:14040 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome antiphospholipid syndrome DOID:2988 antiphospholipid syndrome Antiphospholipid Syndrome DOID:2988 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS DOID:2988 antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APS DOID:2988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease DOID:0060894 early-onset Parkinson's disease early-onset Parkinson disease DOID:0060894 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym alveolococcosis DOID:12148 alveolar echinococcosis alveolococcosis DOID:12148 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym multilocular hydatid multilocular hydatid Multilocular hydatid DOID:12148 alveolar echinococcosis multilocular hydatid DOID:12148 @@ -16661,7 +16496,6 @@ MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis DOID MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome DOID:0070330 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma plasmablastic lymphoma DOID:0080779 plasmablastic lymphoma Plasmablastic lymphoma DOID:0080779 MONDO:0017364 POEMS syndrome oio:hasExactSynonym POEMS syndrome DOID:14039 POEMS syndrome POEMS syndrome DOID:14039 -MONDO:0017364 POEMS syndrome oio:hasExactSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma osteosclerotic myeloma DOID:9541 MONDO:0017373 poliomyelitis oio:hasExactSynonym poliomyelitis DOID:4953 poliomyelitis poliomyelitis DOID:4953 MONDO:0017376 reactive arthritis oio:hasExactSynonym post-bacterial arthropathy post-bacterial arthropathy Post-bacterial arthropathy DOID:6196 reactive arthritis post-bacterial arthropathy DOID:6196 MONDO:0017376 reactive arthritis oio:hasExactSynonym postdysenteric arthropathy DOID:6196 reactive arthritis postdysenteric arthropathy DOID:6196 @@ -16693,7 +16527,6 @@ MONDO:0017572 tick-borne encephalitis oio:hasExactSynonym west-Siberian encepha MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome DOID:0060229 Baraitser-Winter syndrome Baraitser-Winter syndrome DOID:0060229 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym carcinoma of the pituitary gland carcinoma of the pituitary gland carcinoma of the Pituitary gland DOID:4916 pituitary carcinoma carcinoma of the pituitary gland DOID:4916 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym pituitary carcinoma DOID:4916 pituitary carcinoma pituitary carcinoma DOID:4916 -MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer DOID:10020 ampulla of Vater cancer ampulla of Vater cancer DOID:10020 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer ampulla of Vater cancer ampulla of vater cancer DOID:4932 ampulla of Vater carcinoma ampulla of Vater cancer DOID:4932 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater carcinoma DOID:4932 ampulla of Vater carcinoma ampulla of Vater carcinoma DOID:4932 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampullary carcinoma DOID:4932 ampulla of Vater carcinoma ampullary carcinoma DOID:4932 @@ -16742,7 +16575,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease DOID:8541 Sezary's disease Sezary disease DOID:8541 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome DOID:8541 Sezary's disease Sezary syndrome DOID:8541 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease DOID:8541 Sezary's disease Sezary's disease DOID:8541 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome DOID:9476 Sheehan syndrome Sheehan Syndrome DOID:9476 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia figurata variabilis erythrokeratodermia figurata variabilis Erythrokeratodermia Figurata Variabilis DOID:0050467 erythrokeratodermia variabilis erythrokeratodermia figurata variabilis DOID:0050467 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis DOID:0050467 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym alveolitis DOID:841 extrinsic allergic alveolitis alveolitis DOID:841 @@ -16778,7 +16610,6 @@ MONDO:0018018 wild type ATTR amyloidosis oio:hasExactSynonym Senile systemic am MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym deficiency, Laki-Lorand factor DOID:2211 factor XIII deficiency deficiency, Laki-Lorand factor DOID:2211 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym factor XIII deficiency disease factor XIII deficiency disease Factor XIII deficiency disease DOID:2211 factor XIII deficiency factor XIII deficiency disease DOID:2211 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym hereditary factor XIII deficiency disease hereditary factor XIII deficiency disease Hereditary factor XIII deficiency disease DOID:2211 factor XIII deficiency hereditary factor XIII deficiency disease DOID:2211 -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome DOID:3261 hyper IgE recurrent infection syndrome 1 hyperimmunoglobulin E syndrome DOID:3261 MONDO:0018039 selective IgM deficiency oio:hasExactSynonym selective IgM deficiency disease DOID:0050222 selective IgM deficiency disease selective IgM deficiency disease DOID:0050222 MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym ATFB DOID:0050650 familial atrial fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATFB DOID:0050650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym childhood hepatocellular carcinoma DOID:0070322 childhood hepatocellular carcinoma childhood hepatocellular carcinoma DOID:0070322 @@ -16793,7 +16624,6 @@ MONDO:0018071 trisomy 18 oio:hasExactSynonym E3 trisomy E3 trisomy E3 Trisomy D MONDO:0018071 trisomy 18 oio:hasExactSynonym Edwards syndrome DOID:1085 Edwards syndrome Edwards syndrome DOID:1085 MONDO:0018071 trisomy 18 oio:hasExactSynonym complete trisomy 18 syndrome complete trisomy 18 syndrome Complete trisomy 18 syndrome DOID:1085 Edwards syndrome complete trisomy 18 syndrome DOID:1085 MONDO:0018071 trisomy 18 oio:hasExactSynonym trisomy 18 DOID:1085 Edwards syndrome trisomy 18 DOID:1085 -MONDO:0018075 neural tube defect oio:hasExactSynonym spinal dysraphism DOID:1089 tethered spinal cord syndrome spinal dysraphism DOID:1089 MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym benign paroxysmal peritonitis DOID:2987 familial Mediterranean fever benign paroxysmal peritonitis DOID:2987 MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF DOID:2987 familial Mediterranean fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMF DOID:2987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018089 double outlet right ventricle oio:hasExactSynonym Dextrotransposition of aorta DOID:6406 double outlet right ventricle Dextrotransposition of aorta DOID:6406 @@ -16814,8 +16644,6 @@ MONDO:0018097 West syndrome oio:hasRelatedSynonym Infantile spasms syndrome D MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym primary familial hypomagnesemia DOID:0060879 primary hypomagnesemia primary familial hypomagnesemia DOID:0060879 MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018102 corneal dystrophy oio:hasExactSynonym corneal dystrophy DOID:2566 corneal dystrophy corneal dystrophy DOID:2566 -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus AND insipidus with optic atrophy AND deafness DOID:0110629 Wolfram syndrome 1 diabetes mellitus and insipidus with optic atrophy and deafness DOID:0110629 -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym DIDMOAD DOID:0110629 Wolfram syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIDMOAD DOID:0110629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018105 Wolfram syndrome oio:hasExactSynonym Wolfram syndrome DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wolfram syndrome DOID:10632 MONDO:0018105 Wolfram syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria DOID:0060236 xanthinuria classic xanthinuria DOID:0060236 @@ -16829,8 +16657,6 @@ MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym Beta-galactosidase deficie MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym beta-galactosidase deficiency beta-galactosidase deficiency Beta-galactosidase deficiency DOID:3322 GM1 gangliosidosis beta-galactosidase deficiency DOID:3322 MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym deficiency of beta-galactosidase DOID:3322 GM1 gangliosidosis deficiency of beta-galactosidase DOID:3322 MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym gangliosidosis GM1 DOID:3322 GM1 gangliosidosis gangliosidosis GM1 DOID:3322 -MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency acid beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I acid beta-glucosidase deficiency DOID:0110957 -MONDO:0018150 Gaucher disease oio:hasExactSynonym glucocerebrosidase deficiency glucocerebrosidase deficiency Glucocerebrosidase Deficiency DOID:0110957 Gaucher's disease type I glucocerebrosidase deficiency DOID:0110957 MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher's disease DOID:1926 Gaucher's disease Gaucher's disease DOID:1926 MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency DOID:1926 Gaucher's disease acid beta-glucosidase deficiency DOID:1926 MONDO:0018150 Gaucher disease oio:hasExactSynonym glocucerebrosidase deficiency DOID:1926 Gaucher's disease glocucerebrosidase deficiency DOID:1926 @@ -16853,7 +16679,6 @@ MONDO:0018166 oral submucous fibrosis oio:hasExactSynonym oral submucosal fibro MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant germ cell tumor of ovary DOID:2155 malignant ovarian germ cell neoplasm malignant germ cell tumor of ovary DOID:2155 MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell neoplasm DOID:2155 malignant ovarian germ cell neoplasm malignant ovarian germ cell neoplasm DOID:2155 MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell tumor malignant ovarian germ cell tumor malignant Ovarian germ cell tumor DOID:2155 malignant ovarian germ cell neoplasm malignant ovarian germ cell tumor DOID:2155 -MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym ovarian germ cell cancer DOID:2156 ovarian germ cell cancer ovarian germ cell cancer DOID:2156 MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma DOID:3068 glioblastoma glioblastoma DOID:3068 MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme DOID:3068 glioblastoma glioblastoma multiforme DOID:3068 MONDO:0018177 glioblastoma oio:hasExactSynonym primary glioblastoma multiforme DOID:3068 glioblastoma primary glioblastoma multiforme DOID:3068 @@ -16878,11 +16703,8 @@ MONDO:0018233 otopalatodigital syndrome spectrum disorder oio:hasExactSynonym O MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis DOID:1934 dysostosis dysostosis DOID:1934 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing sarcoma DOID:4232 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing's sarcoma DOID:4232 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewing's tumor DOID:4985 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewing's tumour DOID:4985 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt & pepper syndrome DOID:0060470 salt and pepper syndrome salt & pepper syndrome DOID:0060470 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt-and-pepper syndrome DOID:0060470 salt and pepper syndrome salt-and-pepper syndrome DOID:0060470 -MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym CMD due to dystroglycanopathy DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 CMD due to dystroglycanopathy DOID:0050588 MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym muscular dystrophy-dystroglycanopathy DOID:0112374 muscular dystrophy-dystroglycanopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL muscular dystrophy-dystroglycanopathy DOID:0112374 MONDO:0018301 interstitial cystitis oio:hasExactSynonym ulcerative cystitis DOID:13949 interstitial cystitis ulcerative cystitis DOID:13949 MONDO:0018301 interstitial cystitis oio:hasExactSynonym chronic interstitial cystitis DOID:1678 chronic interstitial cystitis chronic interstitial cystitis DOID:1678 @@ -16947,8 +16769,6 @@ MONDO:0018408 cystic echinococcosis oio:hasExactSynonym lung echinococcus granu MONDO:0018408 cystic echinococcosis oio:hasExactSynonym thyroid echinococcus granulosus thyroid echinococcus granulosus Thyroid echinococcus granulosus DOID:1495 cystic echinococcosis thyroid echinococcus granulosus DOID:1495 MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular echinococcosis DOID:1495 cystic echinococcosis unilocular echinococcosis DOID:1495 MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular hydatid disease DOID:1495 cystic echinococcosis unilocular hydatid disease DOID:1495 -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym Hydatidosis Hydatidosis hydatidosis DOID:1496 echinococcosis Hydatidosis DOID:1496 -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym hydatid disease DOID:1496 echinococcosis hydatid disease DOID:1496 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia familial benign hypercalcemia DOID:0060699 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypocalciuric hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia familial benign hypocalciuric hypercalcemia DOID:0060699 MONDO:0018465 insulin autoimmune syndrome oio:hasExactSynonym Hirata disease DOID:0040100 Hirata disease Hirata disease DOID:0040100 @@ -16984,7 +16804,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym mucinous cyst MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma DOID:6827 pancreatic solid pseudopapillary carcinoma pancreatic solid pseudopapillary carcinoma DOID:6827 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym Marshall syndrome with periodic fever DOID:0081451 PFAPA syndrome Marshall syndrome with periodic fever DOID:0081451 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 PFAPA syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome diffuse cerebral sclerosis of Schilder DOID:0080122 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt Disease DOID:10588 adrenoleukodystrophy Siemerling-Creutzfeldt disease DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-Linked Adrenoleukodystrophy X-Linked Adrenoleukodystrophy X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy X-Linked Adrenoleukodystrophy DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy X-linked adrenoleukodystrophy DOID:10588 @@ -16994,7 +16813,6 @@ MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym encephalitis periaxialis MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis DOID:10588 adrenoleukodystrophy sudanophilic cerebral sclerosis DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym ALD DOID:10588 adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALD DOID:10588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism hypogonadotropic hypogonadism DOID:0090070 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome hypogonadotropic hypogonadism DOID:1921 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Eaton-Lambert syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome Eaton-Lambert syndrome DOID:0050214 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert-Eaton syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome Lambert-Eaton syndrome DOID:0050214 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym LEMS DOID:0050214 Lambert-Eaton myasthenic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LEMS DOID:0050214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17004,7 +16822,6 @@ MONDO:0018582 GCGR-related hyperglucagonemia oio:hasExactSynonym nesidioblastos MONDO:0018590 ABeta2M amyloidosis oio:hasExactSynonym Beta2-microglobulinic amyloidosis DOID:0080928 dialysis-related amyloidosis Beta2-microglobulinic amyloidosis DOID:0080928 MONDO:0018612 congenital hypothyroidism oio:hasExactSynonym congenital hypothyroidism DOID:0050328 congenital hypothyroidism congenital hypothyroidism DOID:0050328 MONDO:0018613 AH amyloidosis oio:hasExactSynonym heavy chain amyloidosis heavy chain amyloidosis Heavy chain amyloidosis DOID:0080934 immunoglobulin heavy chain amyloidosis heavy chain amyloidosis DOID:0080934 -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Primary sclerosing cholangitis primary sclerosing cholangitis DOID:0060643 primary sclerosing cholangitis Primary sclerosing cholangitis DOID:0060643 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym fibrosing cholangitis DOID:14268 sclerosing cholangitis fibrosing cholangitis DOID:14268 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis DOID:14268 sclerosing cholangitis sclerosing cholangitis DOID:14268 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease DOID:0060478 Zika fever Zika virus disease DOID:0060478 @@ -17016,7 +16833,6 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia DOID:005054 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus DOID:0050545 visceral heterotaxy situs ambiguus DOID:0050545 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym visceral heterotaxy DOID:0050545 visceral heterotaxy visceral heterotaxy DOID:0050545 MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym progressive spinal muscular atrophy DOID:318 progressive muscular atrophy progressive spinal muscular atrophy DOID:318 -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia DOID:9513 plasma cell leukemia plasma cell leukemia DOID:9513 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia DOID:9513 plasma cell leukemia plasmacytic leukemia DOID:9513 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukaemia DOID:9513 plasma cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 plasmacytic leukaemia DOID:9513 @@ -17044,7 +16860,6 @@ MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia w MONDO:0018770 Jeune syndrome oio:hasExactSynonym thoracic pelvic phalangeal dystrophy DOID:0050592 asphyxiating thoracic dystrophy thoracic pelvic phalangeal dystrophy DOID:0050592 MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome DOID:0050777 MONDO:0018772 Joubert syndrome oio:hasExactSynonym JBTS DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS DOID:0050777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018772 Joubert syndrome oio:hasExactSynonym cerebelloparenchymal disorder IV DOID:0110980 Joubert syndrome 1 cerebelloparenchymal disorder IV DOID:0110980 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease intermediate type Charcot-Marie-Tooth disease intermediate type DOID:0050543 MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman syndrome DOID:3614 Kallmann syndrome Kallman syndrome DOID:3614 MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman's syndrome DOID:3614 Kallmann syndrome Kallman's syndrome DOID:3614 @@ -17063,7 +16878,6 @@ MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym CBA D MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma central nervous system embryonal carcinoma DOID:7232 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal carcinoma of CNS DOID:7232 central nervous system embryonal carcinoma embryonal carcinoma of CNS DOID:7232 MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta DOID:4154 dentinogenesis imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dentinogenesis imperfecta DOID:4154 -MONDO:0018852 achromatopsia oio:hasExactSynonym Pingelapese blindness DOID:0110008 achromatopsia 3 Pingelapese blindness DOID:0110008 MONDO:0018852 achromatopsia oio:hasExactSynonym monochromatism monochromatism Monochromatism DOID:13911 achromatopsia monochromatism DOID:13911 MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achromatopsia DOID:13911 MONDO:0018852 achromatopsia oio:hasExactSynonym ACHM DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACHM DOID:13911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17096,12 +16910,10 @@ MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym sarcoma, breast, leukaem MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome DOID:3012 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LFS DOID:3012 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma DOID:0050746 mantle cell lymphoma mantle cell lymphoma DOID:0050746 -MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM DOID:12155 lymphocytic choriomeningitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCM DOID:12155 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018878 branchiootic syndrome oio:hasExactSynonym bo syndrome bo syndrome BO syndrome DOID:0060232 branchiootic syndrome bo syndrome DOID:0060232 MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia DOID:0060232 branchiootic syndrome branchiootic dysplasia DOID:0060232 MONDO:0018878 branchiootic syndrome oio:hasExactSynonym BOR bor BOR DOID:0060232 branchiootic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOR DOID:0060232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome DOID:0050908 myelodysplastic syndrome myelodysplastic syndrome DOID:0050908 -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS DOID:0060469 Miller-Dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS DOID:0060469 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018889 hyaline body myopathy oio:hasExactSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy myosin storage myopathy DOID:0111267 MONDO:0018896 thrombotic thrombocytopenic purpura oio:hasExactSynonym Moschcowitz's syndrome DOID:10772 thrombotic thrombocytopenic purpura Moschcowitz's syndrome DOID:10772 MONDO:0018901 left ventricular noncompaction oio:hasExactSynonym left ventricular hypertrabeculation DOID:0060480 left ventricular noncompaction left ventricular hypertrabeculation DOID:0060480 @@ -17205,7 +17017,6 @@ MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym brittle bone disease MONDO:0019019 osteogenesis imperfecta oio:hasRelatedSynonym Fragilitas ossium DOID:12347 osteogenesis imperfecta Fragilitas ossium DOID:12347 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis DOID:3663 cutaneous mastocytosis cutaneous mastocytosis DOID:3663 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS DOID:0060815 Miles-Carpenter syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCS DOID:0060815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast-cell sarcoma DOID:355 mast-cell sarcoma mast-cell sarcoma DOID:355 MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma DOID:4659 extracutaneous mastocytoma extracutaneous mastocytoma DOID:4659 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome DOID:678 progressive supranuclear palsy Steele-Richardson-Olszewski syndrome DOID:678 @@ -17236,8 +17047,6 @@ MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocar MONDO:0019082 bullous pemphigoid oio:hasExactSynonym bullous pemphigoid DOID:8506 bullous pemphigoid bullous pemphigoid DOID:8506 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus DOID:1107 esophageal carcinoma carcinoma of esophagus DOID:1107 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma DOID:1107 esophageal carcinoma esophageal carcinoma DOID:1107 -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym Esophageal cancer Esophageal cancer esophageal cancer DOID:5041 esophageal cancer Esophageal cancer DOID:5041 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA DOID:0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA DOID:0111595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocarcinoma adult primary cholangiocarcinoma adult primary Cholangiocarcinoma DOID:4947 cholangiocarcinoma adult primary cholangiocarcinoma DOID:4947 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocellular carcinoma DOID:4947 cholangiocarcinoma adult primary cholangiocellular carcinoma DOID:4947 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma DOID:4947 cholangiocarcinoma cholangiocarcinoma DOID:4947 @@ -17369,7 +17178,6 @@ MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio: MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym junctional epidermolysis bullosa, Disentis type DOID:0060738 junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, Disentis type DOID:0060738 MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym JEB-nH gen DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION JEB-nH gen DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym GABEB DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GABEB DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome hepatopulmonary syndrome DOID:900 hepatopulmonary syndrome Hepatopulmonary Syndrome DOID:900 MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema DOID:0050580 hereditary lymphedema hereditary lymphedema DOID:0050580 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis DOID:3665 diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis DOID:3665 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa urticaria pigmentosa DOID:12309 @@ -17377,7 +17185,6 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM MONDO:0019338 sarcoidosis oio:hasExactSynonym Boeck sarcoid DOID:11335 sarcoidosis Boeck sarcoid DOID:11335 MONDO:0019338 sarcoidosis oio:hasExactSynonym lymphogranulomatosis DOID:11335 sarcoidosis lymphogranulomatosis DOID:11335 MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoidosis DOID:11335 sarcoidosis sarcoidosis DOID:11335 -MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma scleroderma Scleroderma DOID:418 systemic scleroderma scleroderma DOID:418 MONDO:0019340 scleroderma oio:hasExactSynonym dermatosclerosis DOID:419 scleroderma dermatosclerosis DOID:419 MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma DOID:419 scleroderma scleroderma DOID:419 MONDO:0019342 Seckel syndrome oio:hasExactSynonym Harper's syndrome DOID:0050569 Seckel syndrome Harper's syndrome DOID:0050569 @@ -17390,7 +17197,6 @@ MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin DOID:0 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym familial continuous skin peeling syndrome DOID:0060283 peeling skin syndrome familial continuous skin peeling syndrome DOID:0060283 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym keratosis exfoliativa congenita DOID:0060283 peeling skin syndrome keratosis exfoliativa congenita DOID:0060283 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym peeling skin disease DOID:0060283 peeling skin syndrome peeling skin disease DOID:0060283 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome 1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED Sotos syndrome 1 DOID:0112103 MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism DOID:14748 Sotos syndrome cerebral gigantism DOID:14748 MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome DOID:14748 Sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sotos syndrome DOID:14748 @@ -17403,7 +17209,6 @@ MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Adult-Onset Still's MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult onset Still's disease DOID:14256 adult-onset Still's disease adult onset Still's disease DOID:14256 MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still disease DOID:14256 adult-onset Still's disease adult-onset Still disease DOID:14256 MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still's disease DOID:14256 adult-onset Still's disease adult-onset Still's disease DOID:14256 -MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Wissler-Fanconi syndrome DOID:3047 Wissler-Fanconi syndrome Wissler-Fanconi syndrome DOID:3047 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Brazilian spotted DOID:0050052 Rocky Mountain spotted fever Brazilian spotted DOID:0050052 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Choix DOID:0050052 Rocky Mountain spotted fever Choix DOID:0050052 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Fiebre maculosa DOID:0050052 Rocky Mountain spotted fever Fiebre maculosa DOID:0050052 @@ -17416,7 +17221,6 @@ MONDO:0019360 rickettsialpox oio:hasExactSynonym Rickettsia akari spotted fever MONDO:0019360 rickettsialpox oio:hasExactSynonym vesicular rickettsiosis vesicular rickettsiosis Vesicular rickettsiosis DOID:11103 rickettsialpox vesicular rickettsiosis DOID:11103 MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus DOID:0050480 epidemic typhus epidemic typhus DOID:0050480 MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym sylvatic typhus DOID:0050480 epidemic typhus sylvatic typhus DOID:0050480 -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic louse-borne typhus DOID:11256 typhus epidemic louse-borne typhus DOID:11256 MONDO:0019365 scrub typhus oio:hasExactSynonym Japanese river fever DOID:13371 scrub typhus Japanese river fever DOID:13371 MONDO:0019365 scrub typhus oio:hasExactSynonym Kedani fever DOID:13371 scrub typhus Kedani fever DOID:13371 MONDO:0019365 scrub typhus oio:hasExactSynonym scrub mite-borne typhus scrub mite-borne typhus Scrub mite-borne typhus DOID:13371 scrub typhus scrub mite-borne typhus DOID:13371 @@ -17447,7 +17251,6 @@ MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym ADEM D MONDO:0019384 encephalitis lethargica oio:hasExactSynonym encephalitis lethargica encephalitis lethargica Encephalitis lethargica DOID:5225 von Economo's disease encephalitis lethargica DOID:5225 MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo disease DOID:5225 von Economo's disease von Economo disease DOID:5225 MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo's disease DOID:5225 von Economo's disease von Economo's disease DOID:5225 -MONDO:0019384 encephalitis lethargica oio:hasExactSynonym epidemic encephalitis DOID:646 viral encephalitis epidemic encephalitis DOID:646 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi pancytopenia DOID:13636 Fanconi anemia Fanconi pancytopenia DOID:13636 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi panmyelopathy DOID:13636 Fanconi anemia Fanconi panmyelopathy DOID:13636 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi's anemia DOID:13636 Fanconi anemia Fanconi's anemia DOID:13636 @@ -17494,11 +17297,9 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer cell leukaemia natural Killer cell leukaemia natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 natural Killer cell leukaemia DOID:1035 MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 natural killer cell leukaemia DOID:1035 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia DOID:0050523 -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma adult t-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL DOID:5602 T-cell adult acute lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLL DOID:5602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma nasal type extranodal NK/T-cell lymphoma DOID:0080797 nasal type extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma DOID:0080797 -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym lethal midline granuloma DOID:9072 lethal midline granuloma lethal midline granuloma DOID:9072 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma DOID:0080915 histiocytic sarcoma histiocytic sarcoma DOID:0080915 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma DOID:7146 Langerhans cell sarcoma Langerhans cell sarcoma DOID:7146 MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferation DOID:5821 methotrexate-associated lymphoproliferation methotrexate-associated lymphoproliferation DOID:5821 @@ -17517,7 +17318,6 @@ MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, MONDO:0019499 Turner syndrome oio:hasExactSynonym monosomy X syndrome DOID:3491 Turner syndrome monosomy X syndrome DOID:3491 MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal recessive mental retardation DOID:0060308 MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive non-syndromic mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal recessive non-syndromic mental retardation DOID:0060308 -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 anterior segment mesenchymal dysgenesis DOID:0110122 MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym familial exudative vitreoretinopathy DOID:0050535 exudative vitreoretinopathy familial exudative vitreoretinopathy DOID:0050535 MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym FEVR DOID:0050535 exudative vitreoretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FEVR DOID:0050535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019537 hemoglobin D disease oio:hasExactSynonym Hb-D disease DOID:5378 hemoglobin D disease Hb-D disease DOID:5378 @@ -17535,7 +17335,6 @@ MONDO:0019562 localized scleroderma oio:hasExactSynonym morphea morphea Morphea MONDO:0019562 localized scleroderma oio:hasExactSynonym Scleroderma, circumscribed or localised DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 Scleroderma, circumscribed or localised DOID:8472 MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 localised morphea DOID:8472 MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphoea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 localised morphoea DOID:8472 -MONDO:0019563 CREST syndrome oio:hasExactSynonym limited cutaneous Systemic sclerosis limited cutaneous Systemic sclerosis Limited cutaneous systemic sclerosis DOID:1577 limited scleroderma limited cutaneous Systemic sclerosis DOID:1577 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym vascular pseudohemophilia DOID:12531 von Willebrand's disease vascular pseudohemophilia DOID:12531 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym von Willebrand-Jrgens disease DOID:12531 von Willebrand's disease von Willebrand-Jrgens disease DOID:12531 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 1 DOID:14720 Ehlers-Danlos syndrome classic type 1 Ehlers-Danlos syndrome, type 1 DOID:14720 @@ -17631,7 +17430,6 @@ MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma DOID:5574 VIPoma VIPoma D MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma, malignant VIPoma, malignant Vipoma, malignant DOID:5574 VIPoma VIPoma, malignant DOID:5574 MONDO:0019960 VIPoma oio:hasExactSynonym malignant vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma malignant vasoactive intestinal peptide-secreting tumor DOID:5574 MONDO:0019960 VIPoma oio:hasExactSynonym vasoactive intestinal peptide-secreting tumor vasoactive intestinal peptide-secreting tumor Vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma vasoactive intestinal peptide-secreting tumor DOID:5574 -MONDO:0019960 VIPoma oio:hasExactSynonym Verner-Morrison syndrome DOID:6977 pancreatic cholera Verner-Morrison syndrome DOID:6977 MONDO:0019962 thyroid lymphoma oio:hasExactSynonym thyroid lymphoma DOID:10011 thyroid lymphoma thyroid lymphoma DOID:10011 MONDO:0019975 pellagra oio:hasExactSynonym niacin deficiency niacin deficiency Niacin deficiency DOID:8457 pellagra niacin deficiency DOID:8457 MONDO:0019975 pellagra oio:hasExactSynonym niacin-tryptophan deficiency niacin-tryptophan deficiency Niacin-tryptophan deficiency DOID:8457 pellagra niacin-tryptophan deficiency DOID:8457 @@ -17653,7 +17451,6 @@ MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemol MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked intellectual disability DOID:0060309 syndromic X-linked intellectual disability syndromic X-linked intellectual disability DOID:0060309 MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked mental retardation DOID:0060309 syndromic X-linked intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED syndromic X-linked mental retardation DOID:0060309 MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease DOID:231 motor neuron disease motor neuron disease DOID:231 -MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease DOID:4873 anterior horn cell disease anterior horn cell disease DOID:4873 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pontocerebellar hypoplasia DOID:0060264 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH DOID:0060264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020143 cerebral lipidosis with dementia oio:hasExactSynonym cerebral lipidosis DOID:10742 cerebral lipidosis cerebral lipidosis DOID:10742 @@ -17686,7 +17483,6 @@ MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventr MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym Schlichting dystrophy DOID:0060457 posterior polymorphous corneal dystrophy Schlichting dystrophy DOID:0060457 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym hereditary polymorphus posterior corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy hereditary polymorphus posterior corneal dystrophy DOID:0060457 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym PPCD DOID:0060457 posterior polymorphous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPCD DOID:0060457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020366 congenital glaucoma oio:hasExactSynonym buphthalmos DOID:11211 buphthalmos buphthalmos DOID:11211 MONDO:0020366 congenital glaucoma oio:hasExactSynonym hydrophthalmos DOID:11212 hydrophthalmos hydrophthalmos DOID:11212 MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym glaucoma of childhood glaucoma of childhood Glaucoma of childhood DOID:1068 juvenile glaucoma glaucoma of childhood DOID:1068 MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym juvenile glaucoma DOID:1068 juvenile glaucoma juvenile glaucoma DOID:1068 @@ -17720,8 +17516,6 @@ MONDO:0020502 yellow fever oio:hasExactSynonym Yellow fever, sylvan DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym jungle yellow fever DOID:9682 yellow fever jungle yellow fever DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym sylvatic yellow fever sylvatic yellow fever Sylvatic yellow fever DOID:9682 yellow fever sylvatic yellow fever DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym urban yellow fever DOID:9682 yellow fever urban yellow fever DOID:9682 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter vanishing white matter leukodystrophy DOID:0060868 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym spermatocytic seminoma DOID:5834 spermatocytoma spermatocytic seminoma DOID:5834 MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocytic seminoma DOID:7891 testicular spermatocytic seminoma testicular spermatocytic seminoma DOID:7891 MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus DOID:0060334 transient neonatal diabetes mellitus transient neonatal diabetes mellitus DOID:0060334 @@ -17798,11 +17592,9 @@ MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym spermatogenic failur MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym SPGF32 DOID:0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF32 DOID:0111925 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020857 ovarian dysgenesis 7 oio:hasExactSynonym OVARIAN DYSGENESIS 7 OVARIAN DYSGENESIS 7 ovarian dysgenesis 7 DOID:0080499 ovarian dysgenesis 7 OVARIAN DYSGENESIS 7 DOID:0080499 MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym MC5DN5 DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MC5DN5 DOID:0070463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym mitochondrial complex v (atp synthase) deficiency mitochondrial complex v (atp synthase) deficiency mitochondrial complex V (ATP synthase) deficiency DOID:0111143 mitochondrial complex V (ATP synthase) deficiency mitochondrial complex v (atp synthase) deficiency DOID:0111143 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym symptomatic form of hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 symptomatic form of hemochromatosis type 1 DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hemochromatosis type 1 DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFE1 DOID:0111029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis DOID:2352 hemochromatosis hemochromatosis DOID:2352 MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly DOID:1148 polydactyly polydactyly DOID:1148 MONDO:0021003 polydactyly oio:hasRelatedSynonym supernumerary digit supernumerary digit Supernumerary digit DOID:1148 polydactyly supernumerary digit DOID:1148 MONDO:0021004 brachydactyly oio:hasExactSynonym brachydactyly DOID:0050581 brachydactyly brachydactyly DOID:0050581 @@ -17815,21 +17607,15 @@ MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym familial startle dis MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym hereditary hyperekplexia DOID:0060695 hyperekplexia hereditary hyperekplexia DOID:0060695 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym startle disease DOID:0060695 hyperekplexia startle disease DOID:0060695 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 DOID:0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED alopecia-mental retardation syndrome 1 DOID:0080628 -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 MONDO:0021048 benign mastocytoma oio:hasExactSynonym benign mastocytoma DOID:4658 benign mastocytoma benign mastocytoma DOID:4658 MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma DOID:0080639 bone sarcoma bone sarcoma DOID:0080639 -MONDO:0021054 bone sarcoma oio:hasExactSynonym skeletal sarcoma skeletal sarcoma Skeletal sarcoma DOID:3347 osteosarcoma skeletal sarcoma DOID:3347 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis Familial Adenomatous Polyposis DOID:0050424 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis adenomatous polyposis of the colon DOID:0050424 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis familial adenomatous polyposis DOID:0050424 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 DOID:0080409 familial adenomatous polyposis 1 familial adenomatous polyposis 1 DOID:0080409 MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy DOID:0080690 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL RASopathy DOID:0080690 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis acoustic neurofibromatosis DOID:0111252 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis central neurofibromatosis DOID:0111252 vestibular schwannomatosis central Neurofibromatosis DOID:0111252 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym Recklinghausen's neurofibromatosis DOID:0111253 neurofibromatosis 1 Recklinghausen's neurofibromatosis DOID:0111253 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis DOID:0111253 neurofibromatosis 1 peripheral Neurofibromatosis DOID:0111253 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis DOID:8712 neurofibromatosis neurofibromatosis DOID:8712 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer DOID:219 colon cancer colon cancer DOID:219 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor DOID:170 endocrine gland cancer Endocrine tumor DOID:170 @@ -17860,7 +17646,6 @@ MONDO:0021167 myositis disease oio:hasExactSynonym inflammatory disorder of mus MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid haemangioma DOID:474 histiocytoid hemangioma epithelioid haemangioma DOID:474 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma DOID:474 histiocytoid hemangioma epithelioid hemangioma DOID:474 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma DOID:474 histiocytoid hemangioma histiocytoid hemangioma DOID:474 -MONDO:0021259 prostate neoplasm oio:hasExactSynonym tumor of the prostate DOID:10283 prostate cancer tumor of the prostate DOID:10283 MONDO:0021439 benign neoplasm of pituitary gland oio:hasExactSynonym pituitary gland benign neoplasm DOID:60009 pituitary gland benign neoplasm pituitary gland benign neoplasm DOID:60009 MONDO:0021441 benign neoplasm of exocrine pancreas oio:hasExactSynonym benign exocrine pancreas neoplasm DOID:0080781 benign exocrine pancreas neoplasm benign exocrine pancreas neoplasm DOID:0080781 MONDO:0021443 benign neoplasm of lymph node oio:hasExactSynonym lymph node benign neoplasm DOID:0080617 lymph node benign neoplasm lymph node benign neoplasm DOID:0080617 @@ -17906,7 +17691,6 @@ MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasE MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasExactSynonym DSPD DOID:0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSPD DOID:0111141 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024432 nerve plexus disorder oio:hasExactSynonym plexopathy DOID:3688 plexopathy plexopathy DOID:3688 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym DRS1 DOID:0060766 autosomal dominant Robinow syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DRS1 DOID:0060766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym iridogoniodysgenesis type 1 DOID:0050786 iridogoniodysgenesis syndrome iridogoniodysgenesis type 1 DOID:0050786 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym anterior segment dysgenesis 3 DOID:0080608 anterior segment dysgenesis 3 anterior segment dysgenesis 3 DOID:0080608 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy 1 infantile neuroaxonal dystrophy 1 Infantile Neuroaxonal Dystrophy 1 DOID:0110735 neurodegeneration with brain iron accumulation 2a infantile neuroaxonal dystrophy 1 DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2a DOID:0110735 neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2A DOID:0110735 @@ -17915,13 +17699,11 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated Neurodegeneration, Pla2g6-Associated DOID:0110735 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2g6-associated DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2a NBIA2A NBIA2a DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA2a DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 DOID:0080493 ovarian dysgenesis 1 ovarian dysgenesis 1 DOID:0080493 -MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever South African tick-bite fever DOID:0050035 MONDO:0024472 boutonneuse fever oio:hasExactSynonym African tick typhus DOID:14095 boutonneuse fever African tick typhus DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym Kenya tick typhus Kenya tick typhus kenya tick typhus DOID:14095 boutonneuse fever Kenya tick typhus DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever DOID:14095 boutonneuse fever South African tick-bite fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym boutonneuse fever DOID:14095 boutonneuse fever boutonneuse fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym marseilles fever DOID:14095 boutonneuse fever marseilles fever DOID:14095 -MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym neoplasm of liver DOID:3571 liver cancer neoplasm of liver DOID:3571 MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 liver benign neoplasm epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 MONDO:0024507 aniridia 1 oio:hasExactSynonym aniridia 1 DOID:0070532 aniridia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL aniridia 1 DOID:0070532 MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym schwannomatosis 1 DOID:0070480 schwannomatosis 1 schwannomatosis 1 DOID:0070480 @@ -17933,7 +17715,6 @@ MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Via MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brown-Vialetto-van Laere syndrome 1 DOID:0080785 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym TRICHOHEPATOENTERIC syndrome 1 TRICHOHEPATOENTERIC syndrome 1 trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 TRICHOHEPATOENTERIC syndrome 1 DOID:0111415 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL trichohepatoenteric syndrome 1 DOID:0111415 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasRelatedSynonym dysequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome dysequilibrium syndrome DOID:0050997 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym inflammatory peeling skin syndrome DOID:0070520 peeling skin syndrome 1 inflammatory peeling skin syndrome DOID:0070520 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome 1 DOID:0070520 peeling skin syndrome 1 peeling skin syndrome 1 DOID:0070520 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome type B DOID:0070520 peeling skin syndrome 1 peeling skin syndrome type B DOID:0070520 @@ -17950,13 +17731,11 @@ MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulva squamous MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar epidermoid carcinoma vulvar epidermoid carcinoma Vulvar Epidermoid carcinoma DOID:2101 vulva squamous cell carcinoma vulvar epidermoid carcinoma DOID:2101 MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar squamous cell carcinoma DOID:2101 vulva squamous cell carcinoma vulvar squamous cell carcinoma DOID:2101 MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma thyroid gland adenocarcinoma DOID:0080524 -MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid adenocarcinoma thyroid adenocarcinoma Thyroid adenocarcinoma DOID:3962 follicular thyroid carcinoma thyroid adenocarcinoma DOID:3962 MONDO:0024647 urolithiasis oio:hasExactSynonym urolithiasis DOID:0080653 urolithiasis urolithiasis DOID:0080653 MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym insulinoma DOID:3892 insulinoma insulinoma DOID:3892 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse giant cell tumor of Tenosynovium diffuse giant cell tumor of Tenosynovium Diffuse Giant cell tumor of Tenosynovium DOID:2702 pigmented villonodular synovitis diffuse giant cell tumor of Tenosynovium DOID:2702 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis DOID:2702 pigmented villonodular synovitis pigmented villonodular synovitis DOID:2702 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym villous tenosynovitis DOID:2702 pigmented villonodular synovitis villous tenosynovitis DOID:2702 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor DOID:314 MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type oio:hasExactSynonym MRXSP DOID:0070422 syndromic X-linked intellectual disability Pilorge type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRXSP DOID:0070422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024773 spermatogenic failure, X-linked, 4 oio:hasExactSynonym SPGFX4 DOID:0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGFX4 DOID:0070595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024889 benign mesonephroma oio:hasExactSynonym Mesonephroma, benign DOID:2616 Wolffian duct adenoma Mesonephroma, benign DOID:2616 @@ -18083,8 +17862,8 @@ MONDO:0030515 spermatogenic failure 63 oio:hasExactSynonym SPGF63 DOID:011235 MONDO:0030522 spermatogenic failure 64 oio:hasExactSynonym SPGF64 DOID:0112353 spermatogenic failure 64 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF64 DOID:0112353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030531 spermatogenic failure 65 oio:hasExactSynonym SPGF65 DOID:0112354 spermatogenic failure 65 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF65 DOID:0112354 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030543 combined oxidative phosphorylation deficiency 54 oio:hasExactSynonym COXPD54 DOID:0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD54 DOID:0070427 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae pneumonia due to klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 +MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae (disorder) pneumonia due to Klebsiella pneumoniae (disorder) Pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma DOID:7571 malignant cystic nephroma malignant cystic nephroma DOID:7571 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma DOID:7571 malignant cystic nephroma malignant multilocular cystic nephroma DOID:7571 @@ -18321,7 +18100,6 @@ MONDO:0033671 spermatogenic failure 45 oio:hasExactSynonym SPGF45 DOID:011216 MONDO:0033673 spermatogenic failure 46 oio:hasExactSynonym SPGF46 DOID:0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF46 DOID:0112164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym developmental and epileptic encephalopathy 73 DOID:0112209 developmental and epileptic encephalopathy 73 developmental and epileptic encephalopathy 73 DOID:0112209 MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym DEE73 DOID:0112209 developmental and epileptic encephalopathy 73 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE73 DOID:0112209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0035153 male infertility due to acephalic spermatozoa oio:hasExactSynonym Acephalic spermatozoa syndrome Acephalic spermatozoa syndrome acephalic spermatozoa syndrome DOID:0070184 spermatogenic failure 16 Acephalic spermatozoa syndrome DOID:0070184 MONDO:0036482 retinitis pigmentosa 81 oio:hasExactSynonym retinitis pigmentosa 81 DOID:0080292 retinitis pigmentosa 81 retinitis pigmentosa 81 DOID:0080292 MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly oio:hasExactSynonym short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 @@ -18444,10 +18222,8 @@ MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym ea MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym early infantile epileptic encephalopathy with burst-suppression early infantile epileptic encephalopathy with burst-suppression Early Infantile Epileptic Encephalopathy with Burst-Suppression DOID:0050709 early infantile epileptic encephalopathy early infantile epileptic encephalopathy with burst-suppression DOID:0050709 MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym developmental and epileptic encephalopathy DOID:0112202 developmental and epileptic encephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL developmental and epileptic encephalopathy DOID:0112202 MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym LEOPARD syndrome 1 DOID:0080548 Noonan syndrome with multiple lentigines 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL LEOPARD syndrome 1 DOID:0080548 -MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym multiple lentigines syndrome multiple lentigines syndrome Multiple lentigines syndrome DOID:14291 Noonan syndrome with multiple lentigines multiple lentigines syndrome DOID:14291 MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures oio:hasExactSynonym CONDSIAS DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CONDSIAS DOID:0070352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100096 COVID-19 oio:hasExactSynonym 2019-nCoV infection DOID:0080600 COVID-19 2019-nCoV infection DOID:0080600 -MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym Pena-Shokeir syndrome type 1 DOID:0111375 fetal akinesia deformation sequence syndrome Pena-Shokeir syndrome type 1 DOID:0111375 MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym FADS1 DOID:0111377 fetal akinesia deformation sequence syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS1 DOID:0111377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100102 fetal akinesia deformation sequence 2 oio:hasExactSynonym FADS2 DOID:0111378 fetal akinesia deformation sequence syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS2 DOID:0111378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100103 fetal akinesia deformation sequence 3 oio:hasExactSynonym FADS3 DOID:0111376 fetal akinesia deformation sequence syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS3 DOID:0111376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -18547,7 +18323,6 @@ MONDO:0100349 COACH syndrome oio:hasExactSynonym gentile syndrome gentile syndr MONDO:0100349 COACH syndrome oio:hasExactSynonym JS-H DOID:0111589 COACH syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION JS-H DOID:0111589 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal HMN V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 distal HMN V DOID:0111203 MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal hereditary motor neuropathy type V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 distal hereditary motor neuropathy type V DOID:0111203 -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal spinal muscular atrophy type 5 DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 distal spinal muscular atrophy type 5 DOID:0111214 MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym episodic kinesigenic dyskinesia 1 DOID:0090053 episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia 1 DOID:0090053 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym Berdon syndrome DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome Berdon syndrome DOID:0060610 MONDO:0100428 progressive bulbar palsy of childhood oio:hasExactSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease Fazio-Londe disease DOID:0080632 @@ -18589,7 +18364,6 @@ MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExa MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExactSynonym DTDS DOID:0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DTDS DOID:0070487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0700200 atypical dopamine transporter deficiency syndrome oio:hasExactSynonym atypical DTDS DOID:0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION atypical DTDS DOID:0070488 MONDO:0700226 food allergy oio:hasExactSynonym food hypersensitivity DOID:3044 food allergy food hypersensitivity DOID:3044 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym Brachycephalofrontonasal dysplasia DOID:0081073 Teebi hypertelorism syndrome Brachycephalofrontonasal dysplasia DOID:0081073 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine curse DOID:0060731 congenital central hypoventilation syndrome Ondine curse DOID:0060731 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome Ondine syndrome DOID:0060731 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym central congenital hypoventilation syndrome DOID:0060731 congenital central hypoventilation syndrome central congenital hypoventilation syndrome DOID:0060731 @@ -18598,8 +18372,6 @@ MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without H MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym CCHS DOID:0060731 congenital central hypoventilation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCHS DOID:0060731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia DOID:0080523 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis DOID:0060941 interstitial lung disease 1 Idiopathic Pulmonary Fibrosis DOID:0060941 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym hyperkeratosis-contracture syndrome DOID:0060762 restrictive dermopathy hyperkeratosis-contracture syndrome DOID:0060762 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of deglycosylation 1 DOID:0060728 congenital disorder of deglycosylation 1 congenital disorder of deglycosylation 1 DOID:0060728 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of glycosylation type IV congenital disorder of glycosylation type IV congenital disorder of glycosylation type Iv DOID:0060728 congenital disorder of deglycosylation 1 congenital disorder of glycosylation type IV DOID:0060728 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym deficiency of N-glycanase 1 DOID:0060728 congenital disorder of deglycosylation 1 deficiency of N-glycanase 1 DOID:0060728 @@ -18607,13 +18379,11 @@ MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY1-CDDG DOID:0060728 congenital disorder of deglycosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NGLY1-CDDG DOID:0060728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant oio:hasExactSynonym MACTHC1 DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MACTHC1 DOID:0090102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 oio:hasExactSynonym DKCA4 DOID:0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DKCA4 DOID:0070020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym cerebrofaciothoracic dysplasia cerebrofaciothoracic dysplasia Cerebrofaciothoracic dysplasia DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebrofaciothoracic dysplasia DOID:0081072 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 DOID:0070477 diphthamide deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEDSSH1 DOID:0070477 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym childhood ataxia with central nervous system hypomyelination DOID:0060868 leukoencephalopathy with vanishing white matter childhood ataxia with central nervous system hypomyelination DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL leukoencephalopathy with vanishing white matter DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter ovarioleukodystrophy DOID:0060868 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0070396 progressive leukoencephalopathy with ovarian failure ovarioleukodystrophy DOID:0070396 MONDO:0800449 lysosomal acid lipase deficiency oio:hasExactSynonym LAL deficiency DOID:0080217 lysosomal acid lipase deficiency LAL deficiency DOID:0080217 MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 congenital amegakaryocytic thrombocytopenia congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 MONDO:0850302 intracranial meningioma oio:hasExactSynonym brain meningioma DOID:0060106 brain meningioma brain meningioma DOID:0060106 diff --git a/src/ontology/reports/sync-synonym/doid.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/doid.synonyms.updated.robot.tsv index af5c9ef3..c078e44f 100644 --- a/src/ontology/reports/sync-synonym/doid.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/doid.synonyms.updated.robot.tsv @@ -7,7 +7,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICF syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 ICF syndrome DOID:0090007 MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Rickettsia africae spotted fever DOID:0050035 African tick-bite fever DOID:0050035 Rickettsia africae spotted fever DOID:0050035 MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever DOID:0050035 South African tick-bite fever DOID:0050035 -MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever DOID:14095 boutonneuse fever DOID:0050035 South African tick-bite fever DOID:14095 MONDO:0000233 Japanese spotted fever oio:hasExactSynonym oio:hasRelatedSynonym oriental spotted fever DOID:0050050 Japanese spotted fever DOID:0050050 oriental spotted fever DOID:0050050 MONDO:0000234 Rickettsia parkeri spotted fever oio:hasExactSynonym oio:hasRelatedSynonym maculatum infection DOID:0050051 Rickettsia parkeri spotted fever DOID:0050051 maculatum infection DOID:0050051 MONDO:0000261 adenoiditis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenoiditis DOID:0050145 adenoiditis DOID:0050145 chronic adenoiditis DOID:0050145 @@ -17,9 +16,6 @@ MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus ty MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 Acanthamoeba encephalitis DOID:0050246 MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba granulomatous encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 Acanthamoeba granulomatous encephalitis DOID:0050246 MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous amebic encephalitis due to Acanthamoeba granulomatous amebic encephalitis due to Acanthamoeba Granulomatous Amebic Encephalitis due to Acanthamoeba DOID:0050246 granulomatous amebic encephalitis DOID:0050246 granulomatous amebic encephalitis due to Acanthamoeba DOID:0050246 -MONDO:0000315 commensal bacterial infectious disease oio:hasExactSynonym oio:hasRelatedSynonym opportunistic bacterial infectious disease DOID:0050340 opportunistic bacterial infectious disease opportunistic bacterial infectious disease DOID:0050340 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym murine typhus murine typhus Murine typhus DOID:11256 typhus DOID:0050481, Wikipedia:Murine_typhus murine typhus DOID:11256 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym urban typhus urban typhus Urban typhus DOID:11256 typhus DOID:0050481 urban typhus DOID:11256 MONDO:0000332 sennetsu fever oio:hasExactSynonym oio:hasRelatedSynonym sennetsu ehrlichiosis sennetsu ehrlichiosis Sennetsu ehrlichiosis DOID:0050485 sennetsu fever Wikipedia:Neorickettsia_sennetsu, DOID:0050485 sennetsu ehrlichiosis DOID:0050485 MONDO:0000338 variola major infectious disease oio:hasExactSynonym oio:hasBroadSynonym variola major DOID:0050508 variola major variola major DOID:0050508 MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ Ullrich disease DOID:0050558 @@ -40,12 +36,8 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym intermediate cell small cell carcinoma DOID:0050685 small cell carcinoma DOID:0050685 intermediate cell small cell carcinoma DOID:0050685 MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma - intermediate cell small cell carcinoma - intermediate cell Small cell carcinoma - intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 small cell carcinoma - intermediate cell DOID:0050685 MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma, intermediate cell small cell carcinoma, intermediate cell Small cell carcinoma, intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 small cell carcinoma, intermediate cell DOID:0050685 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome DOID:0050665 fetal alcohol syndrome MESH:D063647 fetal alcohol syndrome DOID:0050665 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym partial fetal alcohol syndrome DOID:0050666 partial fetal alcohol syndrome MESH:D063647 partial fetal alcohol syndrome DOID:0050666 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects MESH:D063647 alcohol-related birth defects DOID:0050668 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym NK-T cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 NK-T cell lymphoma DOID:0050743 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym mature T-cell and natural killer cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 mature T-cell and natural killer cell lymphoma DOID:0050743 -MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia spinocerebellar ataxia DOID:1441 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 congenital cystic liver disease DOID:0050770 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital hepatic cyst DOID:0050770 polycystic liver disease DOID:0050770 congenital hepatic cyst DOID:0050770 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym fibrocystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 fibrocystic liver disease DOID:0050770 @@ -64,16 +56,12 @@ MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic tricuspid valve disease DOID:0050826 tricuspid valve disease DOID:0050826 rheumatic tricuspid valve disease DOID:0050826 MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym familial dystonia DOID:0050835 generalized dystonia DOID:0050835 familial dystonia DOID:0050835 MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym fragments of torsion dystonia DOID:0050835 generalized dystonia DOID:0050835 fragments of torsion dystonia DOID:0050835 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans DOID:0060730 torsion dystonia 1 DOID:0050835 dystonia musculorum deformans DOID:0060730 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 DOID:0090056 dystonia 12 DOID:0050835 dystonia 12 DOID:0090056 MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis DOID:0050840 cervical dystonia DOID:0050840 spasmodic torticollis DOID:0050840 MONDO:0000482 focal hand dystonia oio:hasExactSynonym oio:hasRelatedSynonym organic writer's cramp DOID:0050841 focal hand dystonia DOID:0050841 organic writer's cramp DOID:0050841 MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym bronchioalveolar carcinoma DOID:0050870 pulmonary adenocarcinoma in situ DOID:0050870 bronchioalveolar carcinoma DOID:0050870 -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar carcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma NCIT:C136486 bronchioloalveolar carcinoma DOID:4926 MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym alpha synucleinopathies alpha synucleinopathies alpha Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 alpha synucleinopathies DOID:0050890 MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym synucleinopathies synucleinopathies Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 synucleinopathies DOID:0050890 MONDO:0000520 parietal lobe ependymal tumor oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe ependymoma DOID:0050903 parietal lobe ependymoma DOID:0050903 parietal lobe ependymoma DOID:0050903 -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer DOID:8850 salivary gland cancer NCIT:C9272 salivary gland cancer DOID:8850 MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym caecum adenoma DOID:0050910 cecum adenoma DOID:0050910 caecum adenoma DOID:0050910 MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasBroadSynonym cecum adenoma DOID:0050910 cecum adenoma DOID:0050910 cecum adenoma DOID:0050910 MONDO:0000540 small intestinal neuroendocrine tumor G1 oio:hasExactSynonym oio:hasRelatedSynonym small intestine carcinoid neuroendocrine tumor DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 @@ -107,21 +95,14 @@ MONDO:0000762 syndrome caused by partial chromosomal duplication oio:hasExactSyn MONDO:0000763 epithelial and subepithelial corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym epithelial and subepithelial dystrophy DOID:0060440 epithelial and subepithelial dystrophy DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf epithelial and subepithelial dystrophy DOID:0060440 MONDO:0000766 corneal endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy DOID:0060443 corneal endothelial dystrophy DOID:0060443 endothelial dystrophy DOID:0060443 MONDO:0000812 vertebral column disorder oio:hasExactSynonym oio:hasRelatedSynonym spinal disease DOID:0060564 spinal disease DOID:0060564 spinal disease DOID:0060564 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9143 B acute lymphoblastic leukemia DOID:0080638 -MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X DOID:14221 abdominal obesity-metabolic syndrome 1 NCIT:C84442 metabolic syndrome X DOID:14221 MONDO:0000820 cerebral cavernous malformation oio:hasExactSynonym oio:hasRelatedSynonym familial cavernous angioma DOID:0060669 cerebral cavernous malformation DOID:0060669 familial cavernous angioma DOID:0060669 MONDO:0000828 juvenile-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym juvenile-onset Parkinson's disease DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 MONDO:0000836 disease of bone structure oio:hasExactSynonym oio:hasRelatedSynonym bone structure disease DOID:0080010 bone structure disease DOID:0080010 bone structure disease DOID:0080010 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia NCIT:C7953 T acute lymphoblastic leukemia DOID:5603 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9140 B acute lymphoblastic leukemia DOID:0080638 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia DOID:8864 acute monocytic leukemia NCIT:C8263 acute monocytic leukemia DOID:8864 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukaemia DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute monocytic leukaemia DOID:8864 MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis DOID:0080178 mucositis DOID:0080178 mucositis DOID:0080178 MONDO:0000892 colon medullary carcinoma oio:hasExactSynonym oio:hasRelatedSynonym medullary colon carcinoma DOID:0080183 medullary colon carcinoma DOID:0080183 medullary colon carcinoma DOID:0080183 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 DOID:0110507 autosomal recessive deafness 5 DOID:0110507 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 OMIM:600792 autosomal recessive nonsyndromic deafness 5 DOID:0110507 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 DFNB5 DOID:0110507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasBroadSynonym cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 CADASIL Orphanet:136, DOID:13945 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 MONDO:0000945 venous insufficiency oio:hasExactSynonym oio:hasNarrowSynonym peripheral venous insufficiency DOID:10128 venous insufficiency DOID:10128 peripheral venous insufficiency DOID:10128 MONDO:0000952 cancer of long bone of lower limb oio:hasExactSynonym oio:hasRelatedSynonym long bones of lower limb cancer DOID:10149 long bones of lower limb cancer DOID:10149 long bones of lower limb cancer DOID:10149 MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis AND retinochoroiditis DOID:10176 neuroretinitis DOID:10176 Juxtapapillary focal retinitis and retinochoroiditis DOID:10176 @@ -130,8 +111,6 @@ MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym papilloret MONDO:0000964 skin lipoma oio:hasExactSynonym oio:hasNarrowSynonym lipoma of face DOID:10188 skin lipoma DOID:10188 lipoma of face DOID:10188 MONDO:0000990 acute subendocardial myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym subendocardial infarction acute myocardial infarction DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 MONDO:0000994 malignant prostate phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym prostate malignant phyllodes tumor DOID:10289 prostate malignant phyllodes tumor DOID:10289 prostate malignant phyllodes tumor DOID:10289 -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL DOID:1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CLL DOID:1040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML DOID:8552 chronic myeloid leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CML DOID:8552 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001017 epididymal adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma DOID:10368, NCIT:C39957 adenocarcinoma of the epididymis DOID:10368 MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye DOID:10376 amblyopia NCIT:C118764 lazy eye DOID:10376 MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague DOID:10398 pneumonic plague DOID:10398 primary pneumonic plague DOID:10398 @@ -148,7 +127,6 @@ MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph no MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 adult Fanconi syndrome DOID:1062 MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym congenital Fanconi syndrome congenital Fanconi syndrome Congenital Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 congenital Fanconi syndrome DOID:1062 MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile nephropathic cystinosis infantile nephropathic cystinosis Infantile nephropathic cystinosis DOID:1062 Fanconi syndrome DOID:1062 infantile nephropathic cystinosis DOID:1062 -MONDO:0001105 renal hypertension oio:hasExactSynonym oio:hasNarrowSynonym renovascular hypertension DOID:1591 renovascular hypertension Wikipedia:Renovascular_hypertension renovascular hypertension DOID:1591 MONDO:0001115 familial polycythemia oio:hasExactSynonym oio:hasNarrowSynonym primary polycythemia DOID:10780 primary polycythemia DOID:10780 primary polycythemia DOID:10780 MONDO:0001118 Queensland tick typhus oio:hasExactSynonym oio:hasRelatedSynonym Australian tick typhus DOID:10784 Queensland tick typhus DOID:10784 Australian tick typhus DOID:10784 MONDO:0001126 gastric ulcer oio:hasExactSynonym oio:hasNarrowSynonym acute gastric ulcer with hemorrhage and obstruction DOID:10808 gastric ulcer DOID:10808 acute gastric ulcer with hemorrhage and obstruction DOID:10808 @@ -179,8 +157,6 @@ MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleedi MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleeding oesophageal varices bleeding oesophageal varices Bleeding oesophageal varices DOID:112 esophageal varix DOID:112 bleeding oesophageal varices DOID:112 MONDO:0001222 congenital T-cell immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym T cell deficiency DOID:11200 T cell deficiency DOID:11200 T cell deficiency DOID:11200 MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym plethora of newborn DOID:11242 plethora of newborn DOID:11242 plethora of newborn DOID:11242 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus DOID:0050481 endemic typhus DOID:11256 Urban typhus DOID:0050481 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus DOID:0050481 endemic typhus DOID:11256 murine typhus DOID:0050481 MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Moscow typhus DOID:11256 typhus DOID:11256 Moscow typhus DOID:11256 MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic flea-borne typhus DOID:11256 typhus DOID:11256 endemic flea-borne typhus DOID:11256 MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus DOID:11256 endemic typhus fever DOID:11256 @@ -191,11 +167,8 @@ MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym louse-borne [epide MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym murine [endemic] typhus murine [endemic] typhus Murine [endemic] typhus DOID:11256 typhus ICD9CM:081.0, DOID:11256 murine [endemic] typhus DOID:11256 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation DOID:11294 arteriovenous malformation DOID:11294 arteriovenous malformation DOID:11294 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym cirsoid aneurysm cirsoid aneurysm Cirsoid aneurysm DOID:11294 arteriovenous malformation DOID:11294 cirsoid aneurysm DOID:11294 -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis posterior uveitis DOID:12574 posterior uveitis NORD:1601 Posterior Uveitis DOID:12574 -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis DOID:12574 posterior uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis DOID:12574 MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial tumor DOID:116 pericardium cancer NCIT:C4651, DOID:116 pericardial tumor DOID:116 MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm DOID:11615 penile cancer DOID:11615 penile neoplasm DOID:11615 -MONDO:0001328 thyroid hormone resistance syndrome oio:hasExactSynonym oio:hasRelatedSynonym TSH resistance DOID:0070126 congenital nongoitrous hypothyroidism 1 TSH resistance DOID:0070126 MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasRelatedSynonym familial hyperlipoproteinemia DOID:1168 familial hyperlipidemia DOID:1168 familial hyperlipoproteinemia DOID:1168 MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasBroadSynonym hyperlipemia DOID:1168 familial hyperlipidemia DOID:1168 hyperlipemia DOID:1168 MONDO:0001336 familial hyperlipidemia oio:hasRelatedSynonym oio:hasBroadSynonym hyperlipidaemia DOID:1168 familial hyperlipidemia DOID:1168 hyperlipidaemia DOID:1168 @@ -210,7 +183,6 @@ MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tum MONDO:0001405 dermatophytosis of groin and perianal area oio:hasExactSynonym oio:hasRelatedSynonym tinea cruris DOID:11917 tinea cruris DOID:11917 tinea cruris DOID:11917 MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm DOID:1192 nerve sheath neoplasm DOID:1192 MONDO:0001409 esophagitis oio:hasExactSynonym oio:hasNarrowSynonym acute esophagitis DOID:11963 esophagitis DOID:11963 acute esophagitis DOID:11963 -MONDO:0001414 osteopoikilosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata DOID:0111536 Buschke-Ollendorff syndrome GARD:0004158 osteopathia condensans disseminata DOID:0111536 MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of frontal lobe DOID:12016 frontal lobe neoplasm DOID:12016 malignant neoplasm of frontal lobe DOID:12016 MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving forearm transient arthropathy involving forearm Transient arthropathy involving forearm DOID:12084 transient arthropathy DOID:12084 transient arthropathy involving forearm DOID:12084 MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving hand transient arthropathy involving hand Transient arthropathy involving hand DOID:12084 transient arthropathy DOID:12084 transient arthropathy involving hand DOID:12084 @@ -225,9 +197,7 @@ MONDO:0001434 inflammatory spondylopathy oio:hasExactSynonym oio:hasNarrowSynony MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis lymphocytic meningitis Lymphocytic meningitis DOID:12155 lymphocytic choriomeningitis DOID:12155 lymphocytic meningitis DOID:12155 MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym coloboma of macula DOID:12270 coloboma DOID:12270 coloboma of macula DOID:12270 MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym congenital ocular coloboma DOID:12270 coloboma DOID:12270 congenital ocular coloboma DOID:12270 -MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale DOID:8515 Cor pulmonale NCIT:C34478 Cor pulmonale DOID:8515 MONDO:0001502 retroperitoneum carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma DOID:12342, NCIT:C7352 carcinoma of the retroperitoneum DOID:12342 -MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer DOID:5875 retroperitoneal cancer NCIT:C7352 retroperitoneal cancer DOID:5875 MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva DOID:1245 vulva cancer DOID:1245 neoplasm of vulva DOID:1245 MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym vulval neoplasm DOID:1245 vulva cancer DOID:1245 vulval neoplasm DOID:1245 MONDO:0001564 binocular vision disease oio:hasExactSynonym oio:hasNarrowSynonym simultaneous visual perception without fusion DOID:12667 binocular vision disease DOID:12667 simultaneous visual perception without fusion DOID:12667 @@ -235,7 +205,6 @@ MONDO:0001575 chronic gonococcal salpingitis oio:hasExactSynonym oio:hasBroadSyn MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I DOID:12802 Hurler syndrome DOID:12802 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I DOID:12802 mucopolysaccharidosis I DOID:12802 mucopolysaccharidosis I DOID:12802 MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea DOID:12859 choreatic disease DOID:12859 hereditary chorea DOID:12859 -MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer DOID:1243 labia minora cancer NCIT:C9364, DOID:1293 labia minora cancer DOID:1243 MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora cancer DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 labia minora cancer DOID:1293 MONDO:0001602 labia minora carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of labia minora DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 carcinoma of labia minora DOID:1293 MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasNarrowSynonym adult brain tumor DOID:1319 brain cancer DOID:1319 adult brain tumor DOID:1319 @@ -263,14 +232,12 @@ MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynony MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 congenital hypoplastic anaemia DOID:1342 MONDO:0001713 inherited aplastic anemia oio:hasRelatedSynonym oio:hasExactSynonym constitutional aplastic anaemia constitutional aplastic anaemia Constitutional aplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 constitutional aplastic anaemia DOID:1342 MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign vaginal carcinosarcoma DOID:135 benign vaginal carcinosarcoma DOID:135 benign vaginal carcinosarcoma DOID:135 -MONDO:0001793 excessive tearing oio:hasExactSynonym oio:hasRelatedSynonym lacrimal apparatus disease DOID:1400 lacrimal apparatus disease MESH:D007766 lacrimal apparatus disease DOID:1400 MONDO:0001809 adhesions of uterus oio:hasExactSynonym oio:hasRelatedSynonym intrauterine synechiae intrauterine synechiae Intrauterine synechiae DOID:13812 adhesions of uterus ICD9CM:621.5, DOID:13812 intrauterine synechiae DOID:13812 MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis DOID:13943 acute gonococcal prostatitis DOID:13943 gonococcal prostatitis DOID:13943 MONDO:0001848 Morgagni cataract oio:hasExactSynonym oio:hasBroadSynonym hypermature cataract DOID:13964 Morgagni cataract DOID:13964, ICD9CM:366.18 hypermature cataract DOID:13964 MONDO:0001858 Tietze syndrome oio:hasRelatedSynonym oio:hasExactSynonym Tietze syndrome DOID:14021 Tietze's syndrome DOID:14021 Tietze syndrome DOID:14021 MONDO:0001870 acute poststreptococcal glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis DOID:14064, NCIT:C35443 post-streptococcal glomerulonephritis DOID:14064 MONDO:0001871 acute diffuse glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym acute diffuse nephritis DOID:14066 acute diffuse nephritis DOID:14066 acute diffuse nephritis DOID:14066 -MONDO:0001892 spinal cord lymphoma oio:hasExactSynonym oio:hasRelatedSynonym spinal cord cancer DOID:5612 spinal cancer DOID:14150 spinal cord cancer DOID:5612 MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease DOID:1417 choroid disease DOID:1417 choroid disease DOID:1417 MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG deficiency disease DOID:14176 selective IgG deficiency disease DOID:14176 selective IgG deficiency disease DOID:14176 MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency DOID:14176 selective IgG deficiency disease NCIT:C27142, DOID:14176 selective IgG immunodeficiency DOID:14176 @@ -278,34 +245,24 @@ MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym bli MONDO:0001952 parietal lobe cancer oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe neoplasm DOID:14384 parietal lobe neoplasm DOID:14384 parietal lobe neoplasm DOID:14384 MONDO:0001992 rete testis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma DOID:14544, NCIT:C8955 adenocarcinoma of rete testis DOID:14544 MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection DOID:3930 otitis interna DOID:3930 inner ear infection DOID:3930 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym FGS DOID:1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002317 FGS DOID:1312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome DOID:14711 FG syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome DOID:14711 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria mut type DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 methylmalonic aciduria mut type DOID:0060740 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria cblB type DOID:0060743 methylmalonic acidemia cblB type DOID:14749 methylmalonic aciduria cblB type DOID:0060743 MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasNarrowSynonym congenital lymphangioma congenital lymphangioma Congenital lymphangioma DOID:1475 lymphangioma DOID:1475 congenital lymphangioma DOID:1475 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym oio:hasRelatedSynonym Thomas' syndrome DOID:14784 olivopontocerebellar atrophy http://purl.obolibrary.org/obo/mondo#AMBIGUOUS DOID:14784 Thomas' syndrome DOID:14784 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym disease of mental health DOID:150 disease of mental health DOID:150 disease of mental health DOID:150 MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated candidiasis DOID:1508 candidiasis DOID:1508, ICD9CM:112.5 disseminated candidiasis DOID:1508 MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym systemic candidiasis DOID:1508 candidiasis DOID:1508 systemic candidiasis DOID:1508 -MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer DOID:219 colon cancer NCIT:C4910 colon cancer DOID:219 MONDO:0002037 pleural disorder oio:hasExactSynonym oio:hasNarrowSynonym non-neoplastic pleural disease DOID:1532 pleural disease DOID:1532 non-neoplastic pleural disease DOID:1532 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer DOID:11934 head and neck cancer NCIT:C35850 head and neck cancer DOID:11934 MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the neck DOID:1542 head and neck carcinoma DOID:1542, NCIT:C6077 carcinoma of the neck DOID:1542 MONDO:0002038 head and neck carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of neck DOID:1542 head and neck carcinoma MONDO:patterns/carcinoma, DOID:1542 carcinoma of neck DOID:1542 -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol dependence DOID:0050741 alcohol dependence MESH:D000437 alcohol dependence DOID:0050741 -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcoholism DOID:0050741 alcohol dependence MESH:D000437 alcoholism DOID:0050741 MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol use disorder DOID:1574 alcohol use disorder DOID:1574 alcohol use disorder DOID:1574 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasNarrowSynonym auto-immune thrombocytopenia auto-immune thrombocytopenia Auto-immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 auto-immune thrombocytopenia DOID:1587 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia due to platelet alloimmunization DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia DOID:1595 melancholic depression MESH:D003866 melancholia DOID:1595 MONDO:0002050 depressive disorder oio:hasRelatedSynonym oio:hasExactSynonym depression DOID:1596 depressive disorder NCIT:C2982 depression DOID:1596 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute adenitis DOID:1602 lymphadenitis DOID:1602 acute adenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute lymphadenitis DOID:1602 lymphadenitis ICD9CM:683, DOID:1602 acute lymphadenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenitis DOID:1602 lymphadenitis DOID:1602 chronic adenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic lymphadenitis chronic lymphadenitis chronic Lymphadenitis DOID:1602 lymphadenitis DOID:1602, NCIT:C26966 chronic lymphadenitis DOID:1602 MONDO:0002066 breast adenomyoepithelioma oio:hasRelatedSynonym oio:hasExactSynonym adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma DOID:1642, NCIT:C6899 adenomyoepithelioma of the breast DOID:1642 -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma DOID:7428 pineal region germinoma GARD:0012017 pineal region germinoma DOID:7428 MONDO:0002087 peritoneum cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of peritoneum DOID:1725 peritoneum cancer DOID:1725, MONDO:patterns/cancer cancer of peritoneum DOID:1725 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm DOID:175 vascular cancer NCIT:C7387, DOID:175 blood vessel neoplasm DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood vessel tumor DOID:175 vascular cancer DOID:175 blood vessel tumor DOID:175 @@ -319,7 +276,6 @@ MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors DOID:175 vascular cancer DOID:175, NCIT:C7388 vascular tumors DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym Haemangiomatous tumour DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 Haemangiomatous tumour DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumour disorder blood vessel tumour disorder Blood vessel tumour disorder DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 blood vessel tumour disorder DOID:175 -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002099 Histoplasma capsulatum infectious disease oio:hasExactSynonym oio:hasRelatedSynonym American histoplasmosis DOID:1759 American histoplasmosis American histoplasmosis DOID:1759 MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm DOID:176 cardiovascular cancer DOID:176 cardiovascular neoplasm DOID:176 MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland DOID:1781 thyroid cancer DOID:1781 neoplasm of thyroid gland DOID:1781 @@ -334,15 +290,12 @@ MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumour MONDO:0002131 jaw cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of jaw DOID:1862 jaw cancer DOID:1862 neoplasm of jaw DOID:1862 MONDO:0002131 jaw cancer oio:hasRelatedSynonym oio:hasBroadSynonym jaw neoplasm DOID:1862 jaw cancer DOID:1862 jaw neoplasm DOID:1862 MONDO:0002134 physiological sexual disorder oio:hasExactSynonym oio:hasBroadSynonym sexual dysfunction DOID:1876 sexual dysfunction DOID:1876 sexual dysfunction DOID:1876 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:VYST yolk sac tumor DOID:1911 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive tumor DOID:193 reproductive organ cancer NCIT:C3674, DOID:193 reproductive tumor DOID:193 MONDO:0002149 reproductive system cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of reproductive system DOID:193 reproductive organ cancer MONDO:patterns/cancer, DOID:193 cancer of reproductive system DOID:193 MONDO:0002154 trichomoniasis oio:hasRelatedSynonym oio:hasExactSynonym Trichomonas infection Trichomonas infection trichomonas infection DOID:1947 trichomoniasis DOID:1947, MONDO:patterns/infectious_disease_by_agent Trichomonas infection DOID:1947 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis DOID:1949 cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis DOID:1949 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute on chronic cholecystitis DOID:1949 cholecystitis DOID:1949 acute on chronic cholecystitis DOID:1949 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym chronic cholecystitis DOID:1949 cholecystitis DOID:1949, ICD9CM:575.11 chronic cholecystitis DOID:1949 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis DOID:2828 acalculous cholecystitis GARD:0000030 acalculous cholecystitis DOID:2828 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube DOID:1964 fallopian tube cancer NCIT:C3032, DOID:1964 tumor of the fallopian tube DOID:1964 MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental tumors DOID:2021 placenta cancer DOID:2021, NCIT:C4858 placental tumors DOID:2021 MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym orbital exostosis DOID:203 exostosis DOID:203 orbital exostosis DOID:203 @@ -350,7 +303,6 @@ MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym swimmer's exost MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym Bartholin gland neoplasm DOID:2068 Bartholin's gland benign neoplasm DOID:2068 Bartholin gland neoplasm DOID:2068 MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of Bartholin's gland DOID:2068 Bartholin's gland benign neoplasm NCIT:C6434, DOID:2068 tumor of Bartholin's gland DOID:2068 MONDO:0002197 minor vestibular glands adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma DOID:2075, NCIT:C40301 adenoma of minor vestibular glands DOID:2075 -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy DOID:12084 transient arthropathy NCIT:C35761 transient arthropathy DOID:12084 MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deficiency immunoglobulin heavy chain deficiency Immunoglobulin heavy chain deficiency DOID:2115 B cell deficiency DOID:2115 immunoglobulin heavy chain deficiency DOID:2115 MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deletion DOID:2115 B cell deficiency DOID:2115 immunoglobulin heavy chain deletion DOID:2115 MONDO:0002214 brain germinoma oio:hasExactSynonym oio:hasBroadSynonym intracranial germinoma DOID:2127 brain germinoma DOID:2127 intracranial germinoma DOID:2127 @@ -370,7 +322,6 @@ MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym acute/subac. ne MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym animal hepatitis DOID:2237 hepatitis DOID:2237 animal hepatitis DOID:2237 MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis DOID:2237 hepatitis DOID:2237 chronic hepatitis DOID:2237 MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic persistent hepatitis DOID:2237 hepatitis DOID:2237 chronic persistent hepatitis DOID:2237 -MONDO:0002258 pharyngitis oio:hasRelatedSynonym oio:hasNarrowSynonym acute sore throat DOID:11337 Lemierre's syndrome DOID:2275 acute sore throat DOID:11337 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym Sore throat - chronic DOID:2275 pharyngitis DOID:2275 Sore throat - chronic DOID:2275 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis DOID:2275 pharyngitis ICD9CM:462, DOID:2275 acute pharyngitis DOID:2275 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute sore throat DOID:2275 pharyngitis DOID:2275 acute sore throat DOID:2275 @@ -392,7 +343,6 @@ MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumor DOID:2410 skin granular cell tumor DOID:2410 skin granular cell tumor DOID:2410 MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumour DOID:2410 skin granular cell tumor http://purl.obolibrary.org/obo/OMO_0003005 skin granular cell tumour DOID:2410 MONDO:0002312 opportunistic mycosis oio:hasExactSynonym oio:hasNarrowSynonym opportunistic systemic mycoses DOID:2473 opportunistic mycosis DOID:2473 opportunistic systemic mycoses DOID:2473 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 DOID:2477 hereditary motor and sensory neuropathy DOID:0050541 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym HSMN - hereditary sensory and motor neuropathy HSMN - hereditary sensory and motor neuropathy HSMN - Hereditary sensory and motor neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 HSMN - hereditary sensory and motor neuropathy DOID:2477 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 hereditary motor and sensory neuropathy DOID:2477 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym neuropathic muscular atrophy DOID:2477 motor peripheral neuropathy DOID:2477 neuropathic muscular atrophy DOID:2477 @@ -410,7 +360,6 @@ MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal benign neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym laryngeal tumor DOID:2598 laryngeal benign neoplasm NCIT:C3156, DOID:2598 laryngeal tumor DOID:2598 MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 larynx neoplasm DOID:2598 -MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottis cancer DOID:2595 glottis cancer NCIT:C4923 glottis cancer DOID:2595 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of larynx DOID:2600 laryngeal carcinoma DOID:2600, NCIT:C4855 cancer of larynx DOID:2600 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma DOID:2632 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C8377 papillary serous carcinoma DOID:2632 @@ -434,7 +383,6 @@ MONDO:0002433 malignant cranial nerve neoplasm oio:hasExactSynonym oio:hasRelate MONDO:0002434 oculomotor nerve cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant oculomotor nerve tumor DOID:2816 malignant oculomotor nerve tumor DOID:2816 malignant oculomotor nerve tumor DOID:2816 MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor DOID:2817 cranial nerve III tumor DOID:2817 cranial nerve III tumor DOID:2817 MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumour DOID:2817 cranial nerve III tumor http://purl.obolibrary.org/obo/OMO_0003005 cranial nerve III tumour DOID:2817 -MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C7558 endometrial cancer DOID:1380 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes neoplasm of the prostate DOID:2885 benign prostate phyllodes tumor NCIT:C7574, DOID:2885 phyllodes neoplasm of the prostate DOID:2885 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor DOID:2885 benign prostate phyllodes tumor DOID:2885 prostate phyllodes tumor DOID:2885 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumour DOID:2885 benign prostate phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 prostate phyllodes tumour DOID:2885 @@ -442,9 +390,7 @@ MONDO:0002459 type IV hypersensitivity disease oio:hasExactSynonym oio:hasRelate MONDO:0002464 lacrimal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the lacrimal gland DOID:294 lacrimal gland cancer NCIT:C4360, DOID:294 tumor of the lacrimal gland DOID:294 MONDO:0002466 eye carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of eye DOID:295 eye carcinoma MONDO:patterns/carcinoma, NCIT:C6079, DOID:295 carcinoma of eye DOID:295 MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed lacrimal gland cancer DOID:296 mixed lacrimal gland cancer DOID:296 mixed lacrimal gland cancer DOID:296 -MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy DOID:0111866 trichothiodystrophy DOID:2960, NCIT:C4924 trichothiodystrophy DOID:0111866 MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy DOID:2960 trichothiodystrophy with congenital ichthyosis DOID:2960 -MONDO:0002471 bursitis oio:hasExactSynonym oio:hasRelatedSynonym frozen shoulder DOID:14188 frozen shoulder MESH:D002062 frozen shoulder DOID:14188 MONDO:0002475 lacrimal gland adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma NCIT:C4541, DOID:298 adenocarcinoma of lacrimal gland DOID:298 MONDO:0002480 endometrioid tumor oio:hasExactSynonym oio:hasRelatedSynonym female reproductive endometrioid cancer DOID:3001 female reproductive endometrioid cancer DOID:3001 female reproductive endometrioid cancer DOID:3001 MONDO:0002480 endometrioid tumor oio:hasRelatedSynonym oio:hasExactSynonym female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer NCIT:C7113, DOID:3001 female reproductive endometrioid neoplasm DOID:3001 @@ -457,14 +403,11 @@ MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelate MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant phyllodes tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant phyllodes tumour DOID:3016 MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 phyllodes breast tumour DOID:3016 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym colon signet ring adenocarcinoma DOID:3033 colon signet ring adenocarcinoma DOID:3033 colon signet ring adenocarcinoma DOID:3033 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C7049 astrocytic tumor DOID:3069 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C9022 astrocytic tumor DOID:3069 MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym acute gingivitis DOID:3087 gingivitis DOID:3087 acute gingivitis DOID:3087 MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis DOID:3087 gingivitis ICD9CM:523.1, DOID:3087 chronic gingivitis DOID:3087 MONDO:0002509 non-specific granulomatous orchitis oio:hasExactSynonym oio:hasBroadSynonym granulomatous orchitis DOID:3089 granulomatous orchitis NCIT:C27162, DOID:3089 granulomatous orchitis DOID:3089 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating and papillary adenocarcinoma infiltrating and papillary adenocarcinoma Infiltrating and papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 infiltrating and papillary adenocarcinoma DOID:3112 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 infiltrating papillary adenocarcinoma DOID:3112 -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym oio:hasNarrowSynonym hepatobiliary benign neoplasm DOID:3117 hepatobiliary benign neoplasm DOID:3117 hepatobiliary benign neoplasm DOID:3117 MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor DOID:3119 gastrointestinal system cancer NCIT:C3052, DOID:3119 GI tumor DOID:3119 MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym Ulcer of anus DOID:3128 anus disease DOID:3128 Ulcer of anus DOID:3128 MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym anal fissure DOID:3128 anus disease DOID:3128 anal fissure DOID:3128 @@ -481,10 +424,7 @@ MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBro MONDO:0002529 skin squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma NCIT:C4819, DOID:3151 squamous cell carcinoma of skin DOID:3151 MONDO:0002531 skin neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skin benign neoplasm DOID:3165 skin benign neoplasm DOID:3165 skin benign neoplasm DOID:3165 MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma DOID:3172 papillary adenoma NCIT:C6880, DOID:3172 glandular papilloma DOID:3172 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4045 oligodendroglioma DOID:3181 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4014 oligodendroglioma DOID:3181 MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasNarrowSynonym adult brain oligodendroglioma DOID:3186 adult oligodendroglioma DOID:3186 adult brain oligodendroglioma DOID:3186 -MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia NCIT:C34932 aspiration pneumonia DOID:0050152 MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasNarrowSynonym chemical pneumonitis chemical pneumonitis Chemical pneumonitis DOID:3240 aspiration pneumonitis DOID:3240 chemical pneumonitis DOID:3240 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym bile duct rhabdomyosarcoma DOID:3254 bile duct rhabdomyosarcoma DOID:3254 bile duct rhabdomyosarcoma DOID:3254 MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change DOID:3274 proliferative type fibrocystic change of breast DOID:3274, NCIT:C6940 proliferative fibrocystic change DOID:3274 @@ -493,7 +433,6 @@ MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor MONDO:0002597 notochordal tumor oio:hasExactSynonym oio:hasRelatedSynonym notochordal cancer DOID:3303 notochordal cancer DOID:3303 notochordal cancer DOID:3303 MONDO:0002597 notochordal tumor oio:hasRelatedSynonym oio:hasExactSynonym notochordal tumor DOID:3303 notochordal cancer DOID:3303, NCIT:C7063 notochordal tumor DOID:3303 MONDO:0002604 pericytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant perivascular cancer DOID:3316 perivascular tumor DOID:3316 malignant perivascular cancer DOID:3316 -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma DOID:3347 osteosarcoma NCIT:C6585 osteosarcoma DOID:3347 MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym Ewing's sarcoma of bone DOID:3368 Ewing sarcoma of bone DOID:3368, NCIT:C4835 Ewing's sarcoma of bone DOID:3368 MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym bone Ewing's sarcoma DOID:3368 Ewing sarcoma of bone NCIT:C4835, DOID:3368 bone Ewing's sarcoma DOID:3368 MONDO:0002644 idiopathic granulomatous myositis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous myositis DOID:3428 granulomatous myositis DOID:3428 granulomatous myositis DOID:3428 @@ -507,16 +446,12 @@ MONDO:0002670 ampulla of vater adenocarcinoma oio:hasRelatedSynonym oio:hasExact MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast signet ring cell adenocarcinoma DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 MONDO:0002671 signet ring cell breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym signet Ring cell carcinoma of breast signet Ring cell carcinoma of breast signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma NCIT:C5175 signet Ring cell carcinoma of breast DOID:3503 MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant oio:hasExactSynonym oio:hasRelatedSynonym prostate signet ring cell adenocarcinoma DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C7809 fibrosarcoma DOID:3355 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C8088 fibrosarcoma DOID:3355 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus DOID:3540 choroid plexus cancer DOID:3540 tumor of choroid plexus DOID:3540 MONDO:0002681 choroid plexus cancer oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer DOID:3540 choroid plexus neoplasm DOID:3540 -MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer NCIT:C8568 choroid plexus neoplasm DOID:3540 MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adult choroid plexus cancer DOID:3542 adult choroid plexus cancer DOID:3542 adult choroid plexus cancer DOID:3542 MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasExactSynonym adult choroid plexus tumor DOID:3542 adult choroid plexus cancer NCIT:C8568, DOID:3542 adult choroid plexus tumor DOID:3542 MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood choroid plexus cancer DOID:3545 childhood choroid plexus cancer DOID:3545 childhood choroid plexus cancer DOID:3545 MONDO:0002685 childhood choroid plexus carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer DOID:3545 childhood choroid plexus neoplasm DOID:3545 -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma DOID:3301 gonadoblastoma OMIM:424500 gonadoblastoma DOID:3301 MONDO:0002707 breast mucinous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma NCIT:C9131, DOID:3610 mucinous carcinoma of breast DOID:3610 MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm DOID:3620 central nervous system cancer DOID:3620 CNS neoplasm DOID:3620 MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor DOID:3620 central nervous system cancer DOID:3620 central nervous system tumor DOID:3620 @@ -539,11 +474,8 @@ MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym pr MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym preauricular sinus or fistula preauricular sinus or fistula Preauricular sinus or fistula DOID:379 external ear disease http://purl.obolibrary.org/obo/mondo#DUBIOUS DOID:379 preauricular sinus or fistula DOID:379 MONDO:0002785 skull base neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skull base cancer DOID:3842 skull base cancer DOID:3842 skull base cancer DOID:3842 MONDO:0002786 diencephalic cancer oio:hasExactSynonym oio:hasRelatedSynonym diencephalic neoplasm DOID:3843 diencephalic neoplasm DOID:3843 diencephalic neoplasm DOID:3843 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C4011 medulloblastoma DOID:0050902 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C3997 medulloblastoma DOID:0050902 MONDO:0002804 apocrine adenoma oio:hasExactSynonym oio:hasNarrowSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma NCIT:C27527, DOID:3895 tubular apocrine adenoma DOID:3895 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma DOID:3896 hidradenoma DOID:3896, NCIT:C7560 sweat gland adenoma DOID:3896 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma DOID:5442 eccrine acrospiroma NCIT:C7563 eccrine acrospiroma DOID:5442 MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm DOID:3953 adrenal gland cancer DOID:3953 adrenal neoplasm DOID:3953 MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland tumor of the Adrenal gland DOID:3953 adrenal gland cancer NCIT:C2859, DOID:3953 tumor of the adrenal gland DOID:3953 MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma DOID:3965 Merkel cell carcinoma DOID:3965 Merkel cell carcinoma DOID:3965 @@ -562,7 +494,6 @@ MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym primary b MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cerebellum cancer DOID:4205 cerebellum cancer DOID:4205 cerebellum cancer DOID:4205 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum malignant tumor of Cerebellum DOID:4205 cerebellum cancer DOID:4205, NCIT:C3569 malignant tumor of cerebellum DOID:4205 MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym oio:hasNarrowSynonym hair disease DOID:421 hair disease MESH:D006201 hair disease DOID:421 -MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy DOID:14717 centronuclear myopathy NCIT:C84648 centronuclear myopathy DOID:14717 MONDO:0002935 penis basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma DOID:4277, NCIT:C39961 basal cell carcinoma of the penis DOID:4277 MONDO:0002940 anal margin basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma DOID:4283, NCIT:C7473 basal cell carcinoma of anal margin DOID:4283 MONDO:0002941 anal margin carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of anal margin DOID:4284 anal margin carcinoma DOID:4284, NCIT:C7472 carcinoma of anal margin DOID:4284 @@ -580,15 +511,11 @@ MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of t MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym uterine cervical neoplasm DOID:4362 cervical cancer DOID:4362 uterine cervical neoplasm DOID:4362 MONDO:0002977 autoimmune disorder of the nervous system oio:hasRelatedSynonym oio:hasExactSynonym autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system DOID:438, NCIT:C99383 autoimmune nervous system disorder DOID:438 MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues oio:hasExactSynonym oio:hasRelatedSynonym soft tissue peripheral neuroepithelioma DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial germinoma DOID:2127 brain germinoma Orphanet:91352 intracranial germinoma DOID:2127 MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism DOID:446 primary hyperaldosteronism DOID:446 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym hypopotassemia DOID:4500 hypokalemia DOID:4500 hypopotassemia DOID:4500 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder DOID:4500 hypokalemia DOID:4500 potassium deficiency disorder DOID:4500 -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma DOID:0001816 angiosarcoma NCIT:C9174 angiosarcoma DOID:0001816 MONDO:0003030 endometrioid stromal sarcoma of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervical endometrial stromal sarcoma DOID:4520 cervical endometrial stromal sarcoma DOID:4520 cervical endometrial stromal sarcoma DOID:4520 MONDO:0003031 endometrioid stromal and related neoplasms of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervix endometrial stromal tumor DOID:4521 cervix endometrial stromal tumor DOID:4521 cervix endometrial stromal tumor DOID:4521 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma DOID:4545 mesenchymal chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma DOID:4545 -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma NCIT:C8264 meningioma DOID:3565 MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasBroadSynonym bile duct tumor DOID:4606 bile duct cancer NCIT:C2898, DOID:4606 bile duct tumor DOID:4606 MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the extrahepatic bile duct DOID:4606 bile duct cancer NCIT:C7483, DOID:4606 malignant neoplasm of the extrahepatic bile duct DOID:4606 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym muscle benign neoplasm DOID:461 muscle benign neoplasm DOID:461 muscle benign neoplasm DOID:461 @@ -603,43 +530,32 @@ MONDO:0003107 infratentorial cancer oio:hasExactSynonym oio:hasBroadSynonym brai MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor DOID:4737 somatoform disorder DOID:4737 physiological malfunction arising from mental factor DOID:4737 MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychophysiologic disorder DOID:4737 somatoform disorder DOID:4737 psychophysiologic disorder DOID:4737 MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychosomatic disorder DOID:4737 somatoform disorder DOID:4737 psychosomatic disorder DOID:4737 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:MGCT mixed germ cell tumor DOID:3306 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour DOID:3306 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis DOID:4743 mixed testicular germ cell tumor DOID:4743, NCIT:C6347 mixed germ cell tumor of testis DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumor DOID:4743 mixed testicular germ cell tumor DOID:4743 mixed testicular germ cell tumor DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour of testis DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour of testis DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumour DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 mixed testicular germ cell tumour DOID:4743 -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal neoplasm DOID:192 sex cord-gonadal stromal tumor DOID:4757 sex cord-stromal neoplasm DOID:192 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9091 brain stem glioma DOID:4202 MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym Gorham's disease DOID:4837 Gorham's disease MONDO:LexicalVariant, doi:10.1093/jama/9780195176339.003.0016 Gorham's disease DOID:4837 MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym massive osteolysis DOID:4837 Gorham's disease DOID:4837 massive osteolysis DOID:4837 MONDO:0003177 prostate adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma NCIT:C5539, DOID:4868 adenoid cystic carcinoma of prostate DOID:4868 MONDO:0003181 lung adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma DOID:4872, NCIT:C5666 adenoid cystic carcinoma of lung DOID:4872 MONDO:0003184 trachea carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the trachea DOID:4876 trachea carcinoma NCIT:C9347, DOID:4876 carcinoma of the trachea DOID:4876 -MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 Pancoast's tumour DOID:8007 MONDO:0003185 adenoid cystic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma DOID:4877, NCIT:C5130 adenoid cystic carcinoma of breast DOID:4877 MONDO:0003189 middle ear adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of middle Ear adenocarcinoma of middle Ear adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma NCIT:C6848 adenocarcinoma of middle Ear DOID:4892 MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle Ear carcinoma of middle Ear carcinoma of middle ear DOID:4893 middle ear carcinoma NCIT:C6089 carcinoma of middle Ear DOID:4893 MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle ear DOID:4893 middle ear carcinoma DOID:4893, MONDO:patterns/carcinoma carcinoma of middle ear DOID:4893 MONDO:0003195 peritoneal serous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym primary peritoneal serous adenocarcinoma DOID:4901 peritoneal serous adenocarcinoma DOID:4901 primary peritoneal serous adenocarcinoma DOID:4901 -MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendix cancer DOID:11239 appendix cancer NCIT:C9330 appendix cancer DOID:11239 MONDO:0003198 small intestine adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma DOID:4906, NCIT:C7888 adenocarcinoma of small intestine DOID:4906 -MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer DOID:14110 anus cancer NCIT:C9291 anal cancer DOID:14110 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym Ca anus DOID:4908 anal carcinoma DOID:4908 Ca anus DOID:4908 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basophilic carcinoma DOID:4915 basophilic adenocarcinoma DOID:4915 basophilic carcinoma DOID:4915 MONDO:0003205 renal pelvis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma DOID:4918, NCIT:C6143 adenocarcinoma of renal pelvis DOID:4918 -MONDO:0003208 breast secretory carcinoma oio:hasRelatedSynonym oio:hasExactSynonym cystic hypersecretory carcinoma of the breast DOID:7537 breast cystic hypersecretory carcinoma NCIT:C4189 cystic hypersecretory carcinoma of the breast DOID:7537 MONDO:0003211 nasal cavity adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma NCIT:C6015, DOID:4930 adenocarcinoma of nasal cavity DOID:4930 -MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer DOID:10811 nasal cavity cancer NCIT:C9336 nasal cavity cancer DOID:10811 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931 cancer of nasal cavity DOID:4931 MONDO:0003212 nasal cavity carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931, MONDO:patterns/carcinoma carcinoma of nasal cavity DOID:4931 MONDO:0003216 ureter adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma DOID:4938, NCIT:C6155 adenocarcinoma of ureter DOID:4938 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma DOID:4944, NCIT:C9296 adenocarcinoma of gastroesophageal junction DOID:4944 -MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer DOID:3121 gallbladder cancer NCIT:C3844 gallbladder cancer DOID:3121 MONDO:0003231 acute nonparalytic poliomyelitis oio:hasExactSynonym oio:hasNarrowSynonym non-paralytic aseptic meningitis DOID:4986 nonparalytic poliomyelitis DOID:4986 non-paralytic aseptic meningitis DOID:4986 MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym essential hereditary tremor DOID:4990 essential tremor DOID:4990 essential hereditary tremor DOID:4990 MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym optic tract astrocytoma DOID:4991 optic nerve astrocytoma MONDO:patterns/location, DOID:4991 optic tract astrocytoma DOID:4991 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma DOID:0081248 pineocytoma DOID:5032 pinealoma DOID:0081248 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region neoplasm of the Pineal Region DOID:5032 pineal gland cancer DOID:5032 neoplasm of the pineal region DOID:5032 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic tumor DOID:5032 pineal gland cancer DOID:5032 pineocytic tumor DOID:5032 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region DOID:5032 pineal gland cancer DOID:5032 tumor of the pineal region DOID:5032 @@ -651,7 +567,6 @@ MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thorax neo MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax DOID:5093 thoracic cancer DOID:5093 tumor of thorax DOID:5093 MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear DOID:5099 middle ear cancer NCIT:C4412, DOID:5099 tumor of the middle ear DOID:5099 MONDO:0003277 malignant ear neoplasm oio:hasExactSynonym oio:hasRelatedSynonym auricular cancer DOID:5101 ear cancer DOID:5101 auricular cancer DOID:5101 -MONDO:0003282 ovarian cyst oio:hasExactSynonym oio:hasRelatedSynonym corpus luteum cyst DOID:13050 corpus luteum cyst MESH:D010048 corpus luteum cyst DOID:13050 MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma DOID:5157 benign pleural mesothelioma DOID:5157 benign pleural mesothelioma DOID:5157 MONDO:0003312 ovarian endometrioid stromal and related neoplasms oio:hasExactSynonym oio:hasRelatedSynonym ovarian endometrioid stromal sarcoma DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 MONDO:0003313 endometrioid stromal sarcoma of the vagina oio:hasExactSynonym oio:hasRelatedSynonym vaginal endometrial stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 @@ -664,19 +579,12 @@ MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:ha MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:hasRelatedSynonym blastema predominant kidney Wilms' tumour DOID:5182 blastema predominant kidney Wilms' tumor http://purl.obolibrary.org/obo/OMO_0003005 blastema predominant kidney Wilms' tumour DOID:5182 MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 DOID:5183 hereditary Wilms' tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 WT1 DOID:5183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hilar cholangiocellular carcinoma DOID:4927 Klatskin's tumor DOID:5246 hilar cholangiocellular carcinoma DOID:4927 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma DOID:0081028 glycogen-rich carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma DOID:0081028 MONDO:0003392 fallopian tube germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube germ cell cancer DOID:5324 fallopian tube germ cell cancer DOID:5324 fallopian tube germ cell cancer DOID:5324 MONDO:0003392 fallopian tube germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer DOID:5324, NCIT:C40130 fallopian tube germ cell neoplasm DOID:5324 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor pediatric central nervous system Yolk Sac tumor DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C6209 pediatric central nervous system yolk Sac tumor DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac tumor of the CNS DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C7011 yolk Sac tumor of the CNS DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym paediatric central nervous system yolk Sac tumour paediatric central nervous system yolk Sac tumour paediatric central nervous system Yolk Sac tumour DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 paediatric central nervous system yolk Sac tumour DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour of the CNS yolk Sac tumour of the CNS Yolk Sac tumour of the CNS DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour of the CNS DOID:5343 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:TYST yolk sac tumor DOID:1911 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor yolk sac tumor DOID:1911 endodermal sinus tumor NCIT:C27241 yolk Sac tumor DOID:1911 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour yolk Sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour DOID:1911 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6285 central nervous system germ cell tumor DOID:4439 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system germ cell tumour DOID:4439 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumor DOID:5349 central nervous system adult germ cell tumor DOID:5349 central nervous system adult germ cell tumor DOID:5349 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumour DOID:5349 central nervous system adult germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system adult germ cell tumour DOID:5349 MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym non-organic sleep disorder non-organic sleep disorder Non-organic sleep disorder DOID:535 sleep disorder DOID:535 non-organic sleep disorder DOID:535 @@ -699,7 +607,6 @@ MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma DOID:5444 spiradenoma NCIT:C4170 eccrine spiradenoma DOID:5444 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma of skin eccrine spiradenoma of skin Eccrine spiradenoma of skin DOID:5444 spiradenoma DOID:5444 eccrine spiradenoma of skin DOID:5444 MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival tumor DOID:5467 conjunctival cancer DOID:5467, NCIT:C2961 conjunctival tumor DOID:5467 -MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma DOID:4441 dysgerminoma ONCOTREE:ODYS dysgerminoma DOID:4441 MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma DOID:5522 basaloid squamous cell carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma DOID:5522 MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 acantholytic squamous cell carcinoma DOID:5524 MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoacanthoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 adenoacanthoma DOID:5524 @@ -714,11 +621,8 @@ MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRela MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumour of anus DOID:5545 anal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 neuroendocrine tumour of anus DOID:5545 MONDO:0003505 femoral cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of femur DOID:5546 femoral cancer DOID:5546 neoplasm of femur DOID:5546 MONDO:0003505 femoral cancer oio:hasRelatedSynonym oio:hasBroadSynonym femoral neoplasm DOID:5546 femoral cancer DOID:5546 femoral neoplasm DOID:5546 -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:TCCA choriocarcinoma DOID:3594 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer DOID:2998 testicular cancer NCIT:C9063 testicular cancer DOID:2998 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular malignant germ cell cancer DOID:5556 testicular malignant germ cell cancer DOID:5556 testicular malignant germ cell cancer DOID:5556 MONDO:0003514 malignant teratoma oio:hasExactSynonym oio:hasNarrowSynonym malignant extragonadal teratoma malignant extragonadal teratoma malignant Extragonadal teratoma DOID:5563 malignant teratoma DOID:5563 malignant extragonadal teratoma DOID:5563 -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma DOID:3307 teratoma NCIT:C9013 teratoma DOID:3307 MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasNarrowSynonym malignant gastrinoma DOID:5577 gastrinoma DOID:5577 malignant gastrinoma DOID:5577 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma DOID:5579 gastric gastrinoma DOID:5579 gastric gastrinoma DOID:5579 MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma DOID:5591 eccrine papillary adenocarcinoma DOID:5591 digital papillary adenocarcinoma DOID:5591 @@ -726,7 +630,6 @@ MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSyno MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma DOID:5592 breast papillary carcinoma DOID:5592 breast solid papillary carcinoma DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of breast DOID:5592 breast papillary carcinoma NCIT:C9134, DOID:5592 papillary carcinoma of breast DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma DOID:5592 solid papillary carcinoma of the breast DOID:5592 -MONDO:0003544 spinal cord cancer oio:hasRelatedSynonym oio:hasExactSynonym spinal cord cancer DOID:14150 spinal cord lymphoma MONDO:patterns/location spinal cord cancer DOID:14150 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym intraspinal tumor intraspinal tumor Intraspinal tumor DOID:5612 spinal cancer NCIT:C3382, DOID:5612 intraspinal tumor DOID:5612 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm DOID:5612 spinal cancer DOID:5612 spinal cord neoplasm DOID:5612 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord tumor of the Spinal Cord DOID:5612 spinal cancer DOID:5612, NCIT:C3381 tumor of the spinal cord DOID:5612 @@ -734,51 +637,33 @@ MONDO:0003545 intradural extramedullary spinal canal neoplasm oio:hasExactSynony MONDO:0003554 adenosquamous colon carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma NCIT:C5491, DOID:5629 adenosquamous carcinoma of colon DOID:5629 MONDO:0003558 adenosquamous prostate carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma NCIT:C5538, DOID:5634 adenosquamous carcinoma of prostate DOID:5634 MONDO:0003579 retinal nerve fiber layer disorder oio:hasExactSynonym oio:hasRelatedSynonym nerve fibre bundle defect DOID:5678 nerve fibre bundle defect http://purl.obolibrary.org/obo/OMO_0003005 nerve fibre bundle defect DOID:5678 -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:OEC embryonal carcinoma DOID:3308 MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym HBOC syndrome DOID:5683 hereditary breast ovarian cancer syndrome MESH:D061325 HBOC syndrome DOID:5683 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C7811 liposarcoma DOID:3382 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C8091 liposarcoma DOID:3382 MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hormone producing pituitary cancer DOID:5716 hormone producing pituitary cancer DOID:5716 hormone producing pituitary cancer DOID:5716 MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym somatotropinoma somatotropinoma Somatotropinoma DOID:5716 hormone producing pituitary cancer DOID:5716, NCIT:C7911 somatotropinoma DOID:5716 MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm DOID:5719 adrenal medulla cancer DOID:5719 adrenal medulla neoplasm DOID:5719 MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor DOID:5719 adrenal medulla cancer DOID:5719 adrenal medulla tumor DOID:5719 MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral nerve disease DOID:574 peripheral nervous system disease MTH:516, DOID:574, NCIT:C27580, MESH:D010523 peripheral nerve disease DOID:574 MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:574 peripheral nervous system disease MESH:D010523, DOID:574 peripheral neuropathy DOID:574 -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:870 neuropathy MESH:D010523, DOID:574 peripheral neuropathy DOID:870 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym oio:hasRelatedSynonym lung clear cell-sugar-tumor DOID:5763 lung clear cell-sugar-tumor DOID:5763 lung clear cell-sugar-tumor DOID:5763 MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym central nervous system hematologic cancer DOID:5772 central nervous system hematologic cancer DOID:5772 central nervous system hematologic cancer DOID:5772 MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer DOID:5772, NCIT:C5503 hematopoietic neoplasm of central nervous system DOID:5772 MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of rectum DOID:5777 rectum neuroendocrine neoplasm DOID:5777, ORCID:0000-0002-0587-4693 neuroendocrine tumor of rectum DOID:5777 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C5165 lymphoma DOID:0060058 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C7587 lymphoma DOID:0060058 MONDO:0003688 well differentiated papillary mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym benign intermediate mesothelioma DOID:5884 benign intermediate mesothelioma DOID:5884 benign intermediate mesothelioma DOID:5884 -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma DOID:5889 anaplastic ependymoma NCIT:C8269 anaplastic ependymoma DOID:5889 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C8097 malignant mesenchymoma DOID:5758 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C7947 malignant mesenchymoma DOID:5758 MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym oio:hasRelatedSynonym penis non-invasive verrucous carcinoma DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:OMGCT mixed germ cell tumor DOID:3306 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour DOID:3306 MONDO:0003725 breast adenosis oio:hasExactSynonym oio:hasRelatedSynonym microglandular adenosis DOID:5998 microglandular adenosis DOID:5998 microglandular adenosis DOID:5998 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym subleukemic leukemia DOID:12965 subleukemic leukemia DOID:12965 subleukemic leukemia DOID:12965 -MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym aleukemic myelosis aleukemic myelosis Aleukemic myelosis DOID:4971 myelofibrosis DOID:6004 aleukemic myelosis DOID:4971 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:BMT mature teratoma DOID:5566 -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:BIMT immature teratoma DOID:5563 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumor juvenile granulosa cell tumor Juvenile granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 juvenile granulosa cell tumor DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell neoplasm DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 juvenile type granulosa cell neoplasm DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumor juvenile type granulosa cell tumor Juvenile type Granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor NCIT:C4207, DOID:6032 juvenile type granulosa cell tumor DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumour juvenile granulosa cell tumour Juvenile granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 juvenile granulosa cell tumour DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumour juvenile type granulosa cell tumour Juvenile type Granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 juvenile type granulosa cell tumour DOID:6032 MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer esophageal Ulcer DOID:6050 esophageal disease DOID:6050, NCIT:C26950 esophageal ulcer DOID:6050 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6205 central nervous system germ cell tumor DOID:4439 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system germ cell tumour DOID:4439 -MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym germ cell tumour DOID:2994 germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 germ cell tumour DOID:2994 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric germ cell cancer DOID:6053 childhood germ cell cancer DOID:6053 pediatric germ cell cancer DOID:6053 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym paediatric germ cell cancer DOID:6053 childhood germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 paediatric germ cell cancer DOID:6053 MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym pediatric germ cell tumor DOID:6053 childhood germ cell cancer DOID:6053, NCIT:C7928 pediatric germ cell tumor DOID:6053 MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm DOID:6067 ovarian mucinous neoplasm DOID:6067 malignant ovarian mucinous neoplasm DOID:6067 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor DOID:6083 childhood ovarian endodermal sinus tumor NCIT:C6551 childhood ovarian endodermal sinus tumor DOID:6083 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumour DOID:6083 childhood ovarian endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 childhood ovarian endodermal sinus tumour DOID:6083 -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym ovarian germ cell tumor DOID:2156 ovarian germ cell cancer NCIT:C8588 ovarian germ cell tumor DOID:2156 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal cancer DOID:6086 malignant leptomeningeal neoplasm NCIT:C8506 leptomeningeal cancer DOID:6086 MONDO:0003766 thalamic cancer oio:hasExactSynonym oio:hasRelatedSynonym thalamic neoplasm DOID:6098 thalamic neoplasm DOID:6098 thalamic neoplasm DOID:6098 MONDO:0003767 mitral valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic disease of mitral valve DOID:61 mitral valve disease DOID:61 rheumatic disease of mitral valve DOID:61 @@ -801,13 +686,10 @@ MONDO:0003788 childhood embryonal testis carcinoma oio:hasRelatedSynonym oio:has MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym oio:hasRelatedSynonym rectum Kaposi's sarcoma DOID:6190 rectum Kaposi's sarcoma DOID:6190 rectum Kaposi's sarcoma DOID:6190 MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal tumor DOID:6199 cornea cancer DOID:6199, NCIT:C4361 corneal tumor DOID:6199 MONDO:0003805 malignant pericardial mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym pericardial mesothelioma DOID:6201 pericardial mesothelioma MONDO:ambiguous pericardial mesothelioma DOID:6201 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:OMT mature teratoma DOID:5566 MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary DOID:6231 mature teratoma of the ovary NCIT:C8112 mature teratoma of the ovary DOID:6231 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting adenoma of the Pituitary DOID:6275 TSH producing pituitary tumor DOID:6275, NCIT:C8011 TSH secreting adenoma of the pituitary DOID:6275 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma DOID:6275 TSH producing pituitary tumor thyrotroph adenoma DOID:6275 -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma DOID:4848 cerebellar astrocytoma NCIT:C6286 cerebellar astrocytoma DOID:4848 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disease DOID:630 genetic disease genetic disease DOID:630 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9042 brain stem glioma DOID:4202 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis DOID:6474 childhood teratocarcinoma of the testis NCIT:C6539 childhood teratocarcinoma of the testis DOID:6474 MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant oio:hasExactSynonym oio:hasRelatedSynonym clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym lung acinar adenocarcinoma DOID:6482 lung acinar adenocarcinoma DOID:6482 lung acinar adenocarcinoma DOID:6482 @@ -822,19 +704,12 @@ MONDO:0003945 bone epithelioid hemangioma oio:hasExactSynonym oio:hasBroadSynony MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome NCIT:C3990 hyperimmunoglobulin M syndrome DOID:0080544 MONDO:0003954 angiokeratoma of Fordyce oio:hasExactSynonym oio:hasNarrowSynonym Fordyce-type angiokeratoma of scrotum Fordyce-type angiokeratoma of scrotum Fordyce-type Angiokeratoma of scrotum DOID:664 angiokeratoma of Fordyce DOID:664 Fordyce-type angiokeratoma of scrotum DOID:664 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast juvenile papillomatosis DOID:6641 breast juvenile papillomatosis DOID:6641 breast juvenile papillomatosis DOID:6641 -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma DOID:1664 pineoblastoma NCIT:C8292 pineoblastoma DOID:1664 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 fibrodysplasia ossificans progressiva DOID:13374 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 progressive myositis ossificans DOID:13374 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive ossifying myositis DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 progressive ossifying myositis DOID:13374 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma DOID:6700, NCIT:C8398 cancer of fundus of stomach DOID:6700 MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer DOID:6741 bilateral breast cancer DOID:6741, NCIT:C8287 bilateral breast cancer DOID:6741 MONDO:0003985 chest wall lymphoma oio:hasExactSynonym oio:hasBroadSynonym chest wall cancer DOID:6758 chest wall lymphoma DOID:6758 chest wall cancer DOID:6758 -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-type Embryonal Rhabdomyosarcoma DOID:3255 botryoid rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma DOID:3255 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma DOID:4851 pilocytic astrocytoma NCIT:C4048 pilocytic astrocytoma DOID:4851 MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym adult vagina botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial polyp DOID:6873 skin tag NCIT:C3337, DOID:6873 fibroepithelial polyp DOID:6873 MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma DOID:6933 bladder transitional cell papilloma DOID:6933 bladder transitional cell papilloma DOID:6933 -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma DOID:4653 intraocular retinoblastoma NCIT:C9047 intraocular retinoblastoma DOID:4653 MONDO:0004056 bladder papillary urothelial carcinoma oio:hasExactSynonym oio:hasRelatedSynonym bladder urothelial papillary carcinoma DOID:6975 bladder urothelial papillary carcinoma DOID:6975 bladder urothelial papillary carcinoma DOID:6975 MONDO:0004056 bladder papillary urothelial carcinoma oio:hasRelatedSynonym oio:hasExactSynonym urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma NCIT:C7383, DOID:6975 urothelial papillary carcinoma of the bladder DOID:6975 MONDO:0004062 intermediate cell type uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym intraocular mixed cell type melanoma DOID:6992 intraocular mixed cell type melanoma DOID:6992 intraocular mixed cell type melanoma DOID:6992 @@ -842,7 +717,6 @@ MONDO:0004063 intermediate cell type iris melanoma oio:hasExactSynonym oio:hasRe MONDO:0004064 iris melanoma oio:hasExactSynonym oio:hasRelatedSynonym malignant iris melanoma DOID:6994 malignant iris melanoma DOID:6994 malignant iris melanoma DOID:6994 MONDO:0004067 gallbladder mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym gallbladder mucinous carcinoma DOID:6998 gallbladder mucinous carcinoma DOID:6998 gallbladder mucinous carcinoma DOID:6998 MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial metabolism disease DOID:700 mitochondrial metabolism disease DOID:700 mitochondrial metabolism disease DOID:700 -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma DOID:3069 malignant astrocytoma NCIT:C4347 cerebral astrocytoma DOID:3069 MONDO:0004079 lung mucous gland adenoma oio:hasExactSynonym oio:hasRelatedSynonym bronchial mucus gland adenoma DOID:7030 bronchial mucus gland adenoma DOID:7030 bronchial mucus gland adenoma DOID:7030 MONDO:0004080 glottis squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma NCIT:C8186, DOID:7031 squamous cell carcinoma of glottis DOID:7031 MONDO:0004087 basaloid large cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid lung carcinoma DOID:7045 basaloid lung carcinoma DOID:7045 basaloid lung carcinoma DOID:7045 @@ -851,7 +725,6 @@ MONDO:0004091 skin basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma DOID:7051 esophageal basaloid squamous cell carcinoma NCIT:C7032 esophageal basaloid squamous cell carcinoma DOID:7051 MONDO:0004095 B-cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym B-cell lymphoma DOID:707 B-cell lymphoma DOID:707 B-cell lymphoma DOID:707 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma NCIT:C9424, DOID:7081 small cell and large cell carcinoma of the lung DOID:7081 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C8095 epithelioid sarcoma DOID:6193 MONDO:0004106 testicular yolk sac tumor, macrocystic pattern oio:hasExactSynonym oio:hasRelatedSynonym macrocystic pattern testicular yolk sac tumor DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasRelatedSynonym oio:hasExactSynonym small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma DOID:7132, NCIT:C9461 small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 MONDO:0004120 Bartholin gland small cell carcinoma oio:hasNarrowSynonym oio:hasExactSynonym Bartholin gland small cell carcinoma DOID:7140 Bartholin's gland small cell carcinoma NCIT:C40298, DOID:7140 Bartholin gland small cell carcinoma DOID:7140 @@ -876,16 +749,11 @@ MONDO:0004182 stage IVb bladder cancer oio:hasRelatedSynonym oio:hasExactSynonym MONDO:0004192 urethra cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of urethra DOID:734 urethra cancer DOID:734, MONDO:patterns/cancer cancer of urethra DOID:734 MONDO:0004198 testicular yolk sac tumor, solid pattern oio:hasExactSynonym oio:hasRelatedSynonym solid pattern testicular yolk sac tumor DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma DOID:3304 germinoma NCIT:C8712 germinoma DOID:3304 MONDO:0004221 uterine corpus perivascular epithelioid cell tumor oio:hasExactSynonym oio:hasRelatedSynonym uterus perivascular epithelioid cell tumor DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 MONDO:0004227 epididymal adenomatoid tumor oio:hasRelatedSynonym oio:hasExactSynonym adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor DOID:745, NCIT:C6382 adenomatoid neoplasm of the epididymis DOID:745 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelioma DOID:2645 benign mesothelioma NCIT:C3762 benign mesothelioma DOID:2645 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium benign tumor of Mesothelium DOID:2645 benign mesothelioma NCIT:C3762 benign tumor of mesothelium DOID:2645 MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma DOID:7497 brain ependymoma DOID:7497 brain ependymoma DOID:7497 -MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma DOID:0080890 supratentorial ependymoma NCIT:C9043 supratentorial ependymoma DOID:0080890 MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis DOID:7511 breast intraductal papillomatosis DOID:7511 breast intraductal papillomatosis DOID:7511 MONDO:0004258 female orgasmic disorder oio:hasExactSynonym oio:hasRelatedSynonym inhibited female orgasm DOID:7518 inhibited female orgasm DOID:7518 inhibited female orgasm DOID:7518 -MONDO:0004259 endocervical carcinoma oio:hasExactSynonym oio:hasNarrowSynonym endocervical adenocarcinoma DOID:0050940 endocervical adenocarcinoma NCIT:C28327 endocervical adenocarcinoma DOID:0050940 MONDO:0004272 urinary bladder tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym bladder tuberculosis DOID:754 bladder tuberculosis DOID:754 bladder tuberculosis DOID:754 MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements DOID:7553 MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements DOID:7553 @@ -893,7 +761,6 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma DOID:7578 breast scirrhous carcinoma DOID:7578 breast scirrhous carcinoma DOID:7578 MONDO:0004289 glottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma DOID:7583, NCIT:C8189 verrucous carcinoma of glottis DOID:7583 MONDO:0004292 supraglottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma NCIT:C8191, DOID:7586 verrucous carcinoma of the supraglottis DOID:7586 -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 MONDO:0004311 carcinoma of Cowper glands oio:hasExactSynonym oio:hasRelatedSynonym Cowper gland carcinoma DOID:7632 Cowper gland carcinoma DOID:7632 Cowper gland carcinoma DOID:7632 MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin DOID:7643 acantholytic squamous cell skin carcinoma DOID:7643 acantholytic squamous cell carcinoma of skin DOID:7643 MONDO:0004320 adult infiltrating astrocytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym adult infiltrating astrocytoma adult infiltrating astrocytoma adult Infiltrating astrocytoma DOID:7656 adult infiltrating astrocytic neoplasm MTH:NOCODE, DOID:7656 adult infiltrating astrocytoma DOID:7656 @@ -902,18 +769,7 @@ MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym pancreatic ACTH hormone producing tumour DOID:7697 pancreatic ACTH hormone producing tumor http://purl.obolibrary.org/obo/OMO_0003005 pancreatic ACTH hormone producing tumour DOID:7697 MONDO:0004336 rectal signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym rectum signet ring adenocarcinoma DOID:7707 rectum signet ring adenocarcinoma DOID:7707 rectum signet ring adenocarcinoma DOID:7707 MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma DOID:264 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C8094 malignant peripheral nerve sheath tumor DOID:5940 -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma DOID:4656 extraocular retinoblastoma NCIT:C9048 extraocular retinoblastoma DOID:4656 -MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma DOID:7497 brain ependymoma NCIT:C9372 brain ependymoma DOID:7497 -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia DOID:1240 leukemia NCIT:C4989 leukemia DOID:1240 -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma DOID:5503 spinal cord ependymoma NCIT:C27399 spinal cord ependymoma DOID:5503 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma DOID:5058 rhabdoid meningioma NCIT:C8293 papillary meningioma DOID:5058 -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma DOID:3357 extraosseous osteosarcoma NCIT:C7925 extraskeletal osteosarcoma DOID:3357 MONDO:0004379 female breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of female breast DOID:7843 female breast carcinoma NCIT:C2918, DOID:7843 carcinoma of female breast DOID:7843 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma DOID:6262 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma DOID:6262 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C5792 central nervous system germinoma DOID:4438 MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7903 MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern oio:hasExactSynonym oio:hasRelatedSynonym glandular-alveolar pattern testicular yolk sac tumor DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 MONDO:0004423 central nervous system extraskeletal osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym central nervous system osteosarcoma DOID:7994 central nervous system osteosarcoma DOID:7994 central nervous system osteosarcoma DOID:7994 @@ -940,20 +796,14 @@ MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the pelvic region and thigh hemarthrosis of the pelvic region and thigh Hemarthrosis of the pelvic region and thigh DOID:801 hemarthrosis DOID:801 hemarthrosis of the pelvic region and thigh DOID:801 MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the upper arm hemarthrosis of the upper arm Hemarthrosis of the upper arm DOID:801 hemarthrosis DOID:801 hemarthrosis of the upper arm DOID:801 MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of upper arm hemarthrosis of upper arm Hemarthrosis of upper arm DOID:801 hemarthrosis DOID:801 hemarthrosis of upper arm DOID:801 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C27406 Central nervous system germinoma DOID:4438 MONDO:0004453 testicular yolk sac tumor, myxomatous pattern oio:hasExactSynonym oio:hasRelatedSynonym myxomatous pattern testicular yolk sac tumor DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 MONDO:0004468 anal canal Paget disease oio:hasRelatedSynonym oio:hasExactSynonym Paget's disease of anal canal DOID:8119 anal canal Paget's disease DOID:8119, NCIT:C7477 Paget's disease of anal canal DOID:8119 MONDO:0004471 bacterial arthritis oio:hasExactSynonym oio:hasBroadSynonym infectious arthritis DOID:813 septic arthritis DOID:813 infectious arthritis DOID:813 -MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasBroadSynonym OAT DOID:0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:OAT OAT DOID:0070311 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid Hurthle cell adenoma DOID:8162 thyroid Hurthle cell adenoma NCIT:C6042 thyroid Hurthle cell adenoma DOID:8162 -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:UCCA choriocarcinoma DOID:3594 MONDO:0004493 testicular yolk sac tumor, papillary pattern oio:hasExactSynonym oio:hasRelatedSynonym papillary pattern testicular yolk sac tumor DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 MONDO:0004494 testicular yolk sac tumor, hepatoid pattern oio:hasExactSynonym oio:hasRelatedSynonym hepatoid pattern testicular yolk sac tumor DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 -MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer DOID:7696 lung hilum cancer NCIT:C7454 lung hilum cancer DOID:7696 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis DOID:8243 meningeal melanomatosis NCIT:C6891, DOID:8243 leptomeningeal melanomatosis DOID:8243 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C7944 epithelioid sarcoma DOID:6193 MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell variant cervical adenosquamous carcinoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C7814 malignant peripheral nerve sheath tumor DOID:5940 MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis DOID:8408 Meckel's diverticulitis NCIT:C27300 Meckel's diverticulitis DOID:8408 MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma DOID:8419 colloid adenoma DOID:8419 colloid adenoma DOID:8419 MONDO:0004601 ulcer of lower limbs oio:hasExactSynonym oio:hasNarrowSynonym Ulcer of ankle DOID:8529 ulcer of lower limbs DOID:8529 Ulcer of ankle DOID:8529 @@ -964,7 +814,6 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym orophar MONDO:0004609 herpes simplex infectious disease oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex DOID:8566 herpes simplex herpes simplex DOID:8566 MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym oio:hasNarrowSynonym acute intestinal vascular insufficiency DOID:8590 acute vascular insufficiency of intestine DOID:8590 acute intestinal vascular insufficiency DOID:8590 MONDO:0004627 duodenitis oio:hasExactSynonym oio:hasNarrowSynonym hemorrhagic duodenitis hemorrhagic duodenitis Hemorrhagic duodenitis DOID:8643 duodenitis MTH:NOCODE, DOID:8643 hemorrhagic duodenitis DOID:8643 -MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasRelatedSynonym tongue carcinoma DOID:0080641 tongue carcinoma GARD:0007779 tongue carcinoma DOID:0080641 MONDO:0004633 Hodgkin's lymphoma, mixed cellularity oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's disease, mixed cellularity DOID:8654 Hodgkin's lymphoma, mixed cellularity DOID:8654 Hodgkin's disease, mixed cellularity DOID:8654 MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym enterocolitis necrotizing enterocolitis necrotizing ENTEROCOLITIS NECROTIZING DOID:8677 perinatal necrotizing enterocolitis DOID:8677, MTH:NOCODE enterocolitis necrotizing DOID:8677 MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym necrotizing enterocolitis DOID:8677 perinatal necrotizing enterocolitis DOID:8677 necrotizing enterocolitis DOID:8677 @@ -975,7 +824,6 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor DOID:8731 carotid body cancer NCIT:C3574 malignant carotid body tumor DOID:8731 MONDO:0004664 helminthiasis oio:hasExactSynonym oio:hasRelatedSynonym worm infection DOID:883 parasitic helminthiasis infectious disease DOID:883 worm infection DOID:883 MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's lymphoma, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 -MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym dermatomycosis DOID:1563 dermatomycosis MESH:D003881 dermatomycosis DOID:1563 MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm DOID:8913 dermatophytosis Wikipedia:Dermatophytosis ringworm DOID:8913 MONDO:0004684 plantar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym plantar fascial fibromatosis DOID:8936 plantar fascial fibromatosis DOID:8936 plantar fascial fibromatosis DOID:8936 MONDO:0004687 severe nonproliferative diabetic retinopathy oio:hasExactSynonym oio:hasRelatedSynonym severe npdr severe npdr Severe NPDR DOID:8946 severe nonproliferative diabetic retinopathy severe npdr DOID:8946 @@ -989,7 +837,6 @@ MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasNarrowSynonym herpes simplex virus eyelid dermatitis DOID:9123 eczema herpeticum DOID:9123 herpes simplex virus eyelid dermatitis DOID:9123 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver DOID:918 liver inflammatory pseudotumor DOID:918, NCIT:C5858 inflammatory pseudotumor of the liver DOID:918 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor DOID:918 liver inflammatory pseudotumor NCIT:C5858 liver inflammatory pseudotumor DOID:918 -MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym ondine syndrome ondine syndrome Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome MESH:D020182 ondine syndrome DOID:0060731 MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym central sleep apnea DOID:9220 central sleep apnea MESH:D020182 central sleep apnea DOID:9220 MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary central sleep apnea DOID:9220 central sleep apnea DOID:9220 primary central sleep apnea DOID:9220 MONDO:0004731 central sleep apnea syndrome oio:hasRelatedSynonym oio:hasExactSynonym central sleep apnea syndrome DOID:9220 central sleep apnea MESH:D020182, NCIT:C27169, DOID:9220 central sleep apnea syndrome DOID:9220 @@ -1002,8 +849,6 @@ MONDO:0004751 disease of orbital part of eye adnexa oio:hasExactSynonym oio:hasR MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis DOID:9312 chronic ethmoiditis DOID:9312 chronic ethmoiditis DOID:9312 MONDO:0004769 orbital pseudotumor oio:hasExactSynonym oio:hasRelatedSynonym orbital myositis DOID:9369 orbital plasma cell granuloma DOID:9369, ICD9CM:376.12 orbital myositis DOID:9369 MONDO:0004773 iridocyclitis oio:hasExactSynonym oio:hasNarrowSynonym primary iridocyclitis DOID:9383 iridocyclitis DOID:9383 primary iridocyclitis DOID:9383 -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis DOID:3437 laryngitis NCIT:C26688 laryngitis DOID:3437 -MONDO:0004784 allergic asthma oio:hasExactSynonym oio:hasRelatedSynonym atopic asthma DOID:0080811 extrinsic asthma DOID:9415 atopic asthma DOID:0080811 MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis DOID:9471 meningitis DOID:9471 meningitis DOID:9471 MONDO:0004815 osteosclerotic plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma DOID:9541 osteosclerotic myeloma DOID:9541 MONDO:0004817 non-secretory plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym non-secretory myeloma DOID:9547 non-secretory myeloma DOID:9547 non-secretory myeloma DOID:9547 @@ -1011,19 +856,13 @@ MONDO:0004829 Krukenberg carcinoma oio:hasRelatedSynonym oio:hasExactSynonym Kru MONDO:0004845 aphthous stomatitis oio:hasExactSynonym oio:hasRelatedSynonym canker sore canker sore Canker sore DOID:9663 aphthous stomatitis DOID:9663 canker sore DOID:9663 MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal ophthalmia neonatorum DOID:9699 ophthalmia neonatorum DOID:9699 gonococcal ophthalmia neonatorum DOID:9699 MONDO:0004889 total central choroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym central gyrate choroidal dystrophy DOID:9820 central gyrate choroidal dystrophy central gyrate choroidal dystrophy DOID:9820 -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata DOID:986 alopecia areata NCIT:C50575 alopecia areata DOID:986 -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis DOID:950 dacryoadenitis MESH:D003607 dacryoadenitis DOID:950 MONDO:0004947 B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasRelatedSynonym precursor B lymphoblastic lymphoma/leukemia DOID:0080630 B-lymphoblastic leukemia/lymphoma DOID:7061 precursor B lymphoblastic lymphoma/leukemia DOID:0080630 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym CLL DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151400, MONDO:Lexical, NCIT:C3163, DOID:1040 CLL DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym B-cell chronic lymphoid leukemia DOID:1040 chronic lymphocytic leukemia DOID:1040, NCIT:C3163, Orphanet:67038 B-cell chronic lymphoid leukemia DOID:1040 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer DOID:10534 stomach cancer NCIT:C4911 gastric cancer DOID:10534 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer DOID:10534 stomach cancer NCIT:C4911 stomach cancer DOID:10534 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym Ca fundus - stomach DOID:10538 gastric fundus cancer DOID:10538 Ca fundus - stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer DOID:10538 gastric fundus cancer DOID:10538 gastric fundus cancer DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of fundus of stomach DOID:10538 gastric fundus cancer ICD9CM:151.3, DOID:10538, MONDO:patterns/cancer malignant neoplasm of fundus of stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of fundus of stomach DOID:10538 gastric fundus cancer DOID:10538 malignant tumor of fundus of stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach DOID:5517 stomach carcinoma NCIT:C4911, DOID:5517 cancer of the stomach DOID:5517 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma MONDO:patterns/cancer cancer of fundus of stomach DOID:6700 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's sarcoma DOID:8567 Hodgkin's lymphoma DOID:8567, ICD9CM:201.2 Hodgkin's sarcoma DOID:8567 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage I subdiaphragmatic Hodgkin lymphoma stage I subdiaphragmatic Hodgkin lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma NCIT:C5012, DOID:8567 stage I subdiaphragmatic Hodgkin lymphoma DOID:8567 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage II subdiaphragmatic Hodgkin lymphoma stage II subdiaphragmatic Hodgkin lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma DOID:8567, NCIT:C5010 stage II subdiaphragmatic Hodgkin lymphoma DOID:8567 @@ -1031,13 +870,7 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oio:hasRel MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion DOID:4029 gastritis DOID:4029 acute gastric mucosal erosion DOID:4029 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastritis erosive gastritis Erosive Gastritis DOID:4029 gastritis DOID:4029 erosive gastritis DOID:4029 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastropathy erosive gastropathy Erosive gastropathy DOID:4029 gastritis DOID:4029 erosive gastropathy DOID:4029 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia DOID:1037 lymphoid leukemia NCIT:C3167 lymphoblastic leukemia DOID:1037 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukaemia DOID:1037 lymphoid leukemia http://purl.obolibrary.org/obo/OMO_0003005 lymphoblastic leukaemia DOID:1037 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma DOID:4866 salivary gland adenoid cystic carcinoma GARD:0005743 cylindroma DOID:4866 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma DOID:5675 cribriform carcinoma GARD:0005743 cribriform carcinoma DOID:5675 MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym acinar cell adenoma DOID:657 adenoma DOID:657 acinar cell adenoma DOID:657 -MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma DOID:0050771 pheochromocytoma NCIT:C3326 pheochromocytoma DOID:0050771 -MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym exercise-induced asthma DOID:0080821 exercise-induced bronchoconstriction DOID:2841 exercise-induced asthma DOID:0080821 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma DOID:2841 asthma DOID:2841 chronic obstructive asthma DOID:2841 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with acute exacerbation DOID:2841 asthma DOID:2841 chronic obstructive asthma with acute exacerbation DOID:2841 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with status asthmaticus DOID:2841 asthma DOID:2841 chronic obstructive asthma with status asthmaticus DOID:2841 @@ -1049,10 +882,7 @@ MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic de MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive disorder DOID:3312 bipolar disorder NCIT:C34423, DOID:3312 manic depressive disorder DOID:3312 MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic disorder DOID:3312 bipolar disorder DOID:3312 manic disorder DOID:3312 MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym mixed bipolar disorder DOID:3312 bipolar disorder DOID:3312 mixed bipolar disorder DOID:3312 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 bladder cancer DOID:11054 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym urinary bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 urinary bladder cancer DOID:11054 MONDO:0004988 breast adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of breast DOID:3458 breast adenocarcinoma DOID:3458, NCIT:C5214 adenocarcinoma of breast DOID:3458 -MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer DOID:1612 breast cancer NCIT:C4872 breast cancer DOID:1612 MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym breast tumor luminal DOID:0060548 luminal breast carcinoma A DOID:0060548 breast tumor luminal DOID:0060548 MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym luminal breast cancer DOID:0060548 luminal breast carcinoma A DOID:0060548 luminal breast cancer DOID:0060548 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym bronchiolo-alveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 @@ -1062,10 +892,8 @@ MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynony MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468, NCIT:C3766 mesonephroid clear cell carcinoma DOID:4468 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant DOID:4468 clear cell adenocarcinoma DOID:4468 mesonephroma, malignant DOID:4468 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym water-clear cell carcinoma water-clear cell carcinoma Water-clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468 water-clear cell carcinoma DOID:4468 -MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 hypernephroma DOID:4450 MONDO:0005010 coronary artery disorder oio:hasExactSynonym oio:hasNarrowSynonym coronary arteriosclerosis DOID:3393 coronary artery disease DOID:3393 coronary arteriosclerosis DOID:3393 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy DOID:12930 dilated cardiomyopathy DOID:12930 primary dilated cardiomyopathy DOID:12930 -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma MONDO:patterns/location thyroid gland adenocarcinoma DOID:0080524 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular adenocarcinoma DOID:3962 follicular thyroid carcinoma NCIT:C8054 follicular adenocarcinoma DOID:3962 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated DOID:3962 follicular thyroid carcinoma DOID:3962 follicular adenocarcinoma, well differentiated DOID:3962 MONDO:0005040 germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym germ cell cancer DOID:2994 germ cell cancer DOID:2994 germ cell cancer DOID:2994 @@ -1073,7 +901,6 @@ MONDO:0005040 germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym germ cel MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension DOID:10763 hypertension DOID:10763 hypertension DOID:10763 MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN DOID:10763 hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 HTN DOID:10763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005044 hypertensive disorder oio:hasRelatedSynonym oio:hasExactSynonym hypertensive disease DOID:10763 hypertension MTH:NOCODE, DOID:10763 hypertensive disease DOID:10763 -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy DOID:0080326 familial hypertrophic cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy DOID:0080326 MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility DOID:5223 infertility DOID:5223 infertility DOID:5223 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma DOID:3457 lobular carcinoma DOID:3457 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma DOID:3457 lobular carcinoma of the breast DOID:3457 @@ -1117,15 +944,11 @@ MONDO:0005076 periodontitis oio:hasExactSynonym oio:hasRelatedSynonym periodonto MONDO:0005077 pertussis oio:hasExactSynonym oio:hasBroadSynonym Bordetella infection Bordetella infection bordetella infection DOID:1116 pertussis DOID:1116 Bordetella infection DOID:1116 MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 toxaemia of pregnancy DOID:10591 MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton DOID:1115 sarcoma NCIT:C3810, DOID:1115 tumor of soft tissue and skeleton DOID:1115 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 DOID:0070088 schizophrenia 12 OMIM:genemap2, OMIM:181500 schizophrenia 12 DOID:0070088 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:181500 schizoaffective disorder DOID:5418 MONDO:0005093 skin disorder oio:hasExactSynonym oio:hasNarrowSynonym genodermatosis genodermatosis Genodermatosis DOID:37 skin disease DOID:37 genodermatosis DOID:37 MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma DOID:264 malignant hemangiopericytoma DOID:264 MONDO:0005097 squamous cell lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma DOID:3907, NCIT:C3493 squamous cell carcinoma of lung DOID:3907 MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma DOID:418 systemic scleroderma DOID:418 Scleroderma DOID:418 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Scleroderma scleroderma DOID:419 scleroderma DOID:418 Scleroderma DOID:419 MONDO:0005101 ulcerative colitis oio:hasExactSynonym oio:hasNarrowSynonym left-sided ulcerative colitis left-sided ulcerative colitis Left-sided ulcerative colitis DOID:8577 ulcerative colitis DOID:8577 left-sided ulcerative colitis DOID:8577 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3153 lipomatosis DOID:3315 multiple lipomatosis DOID:3153 MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous neoplasm DOID:3315 lipoma DOID:3315 lipomatous neoplasm DOID:3315 MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous tumor DOID:3315 lipoma NCIT:C4248, DOID:3315 lipomatous tumor DOID:3315 MONDO:0005106 lipoma oio:hasRelatedSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3315 lipoma DOID:3315 multiple lipomatosis DOID:3315 @@ -1134,41 +957,27 @@ MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple' MONDO:0005118 human granulocytic ehrlichiosis oio:hasRelatedSynonym oio:hasBroadSynonym HGE DOID:0050025 human granulocytic anaplasmosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000071, DOID:0050025 HGE DOID:0050025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005119 anthrax infection oio:hasExactSynonym oio:hasRelatedSynonym anthrax disease DOID:7427 anthrax disease DOID:7427 anthrax disease DOID:7427 MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix DOID:2893 cervix carcinoma DOID:2893, NCIT:C9039 cancer of cervix DOID:2893 -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervical cancer DOID:4362 cervical cancer NCIT:C9039 cervical cancer DOID:4362 -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervix cancer DOID:4362 cervical cancer NCIT:C9039 cervix cancer DOID:4362 MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym ectoparasitic disease ectoparasitic disease Ectoparasitic disease DOID:1398 parasitic infectious disease DOID:1398 ectoparasitic disease DOID:1398 MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym parasitemia DOID:1398 parasitic infectious disease DOID:1398 parasitemia DOID:1398 MONDO:0005137 nutritional disorder oio:hasExactSynonym oio:hasRelatedSynonym nutrition disease DOID:374 nutrition disease DOID:374 nutrition disease DOID:374 -MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer DOID:1324 lung cancer NCIT:C4878 lung cancer DOID:1324 MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of lung DOID:3905 lung carcinoma NCIT:C4878, DOID:3905 cancer of lung DOID:3905 MONDO:0005138 lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of lung DOID:3905 lung carcinoma MONDO:patterns/carcinoma, NCIT:C4878, DOID:3905 carcinoma of lung DOID:3905 -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer DOID:2394 ovarian cancer NCIT:C4908 ovarian cancer DOID:2394 -MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis DOID:6950 combat disorder NCIT:C3389 combat neurosis DOID:6950 MONDO:0005150 age-related macular degeneration oio:hasExactSynonym oio:hasRelatedSynonym age related macular degeneration DOID:10871 age related macular degeneration DOID:10871 age related macular degeneration DOID:10871 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis DOID:5082 liver cirrhosis DOID:5082 liver cirrhosis DOID:5082 -MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer DOID:10283 prostate cancer NCIT:C4863 prostate cancer DOID:10283 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate DOID:10286 prostate carcinoma NCIT:C4863 cancer of prostate DOID:10286 MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic tumor DOID:3355 fibrosarcoma DOID:3355, NCIT:C7075 fibrocytic tumor DOID:3355 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cell type benign neoplasm DOID:0060084 cell type benign neoplasm DOID:0060084 cell type benign neoplasm DOID:0060084 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym organ system benign neoplasm DOID:0060085 organ system benign neoplasm DOID:0060085 organ system benign neoplasm DOID:0060085 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis DOID:8866 actinic keratosis DOID:8866 Senile hyperkeratosis DOID:8866 MONDO:0005181 progressive external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym chronic progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 -MONDO:0005192 exocrine pancreatic carcinoma oio:hasExactSynonym oio:hasBroadSynonym pancreatic cancer DOID:1793 pancreatic cancer NCIT:C3850 pancreatic cancer DOID:1793 MONDO:0005192 exocrine pancreatic carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym exocrine cancer DOID:4905 pancreatic carcinoma DOID:4905, NCIT:C3850 exocrine cancer DOID:4905 MONDO:0005201 restrictive cardiomyopathy oio:hasRelatedSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy DOID:397 restrictive cardiomyopathy DOID:397 familial restrictive cardiomyopathy DOID:397 -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym kidney cancer DOID:263 kidney cancer NCIT:C9384 kidney cancer DOID:263 -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cancer DOID:263 kidney cancer NCIT:C9384 renal cancer DOID:263 -MONDO:0005215 vulvar carcinoma oio:hasExactSynonym oio:hasBroadSynonym vulva cancer DOID:1245 vulva cancer NCIT:C4866 vulva cancer DOID:1245 MONDO:0005215 vulvar carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of vulva DOID:1294 vulva carcinoma NCIT:C4866, DOID:1294 carcinoma of vulva DOID:1294 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma DOID:0070475 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma DOID:4464 MONDO:0005229 bacterial infectious disease with sepsis oio:hasExactSynonym oio:hasRelatedSynonym bacterial sepsis DOID:0040085 bacterial sepsis DOID:0040085 bacterial sepsis DOID:0040085 MONDO:0005231 hepatitis C virus infection oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis C DOID:1883 hepatitis C DOID:1883 chronic hepatitis C DOID:1883 MONDO:0005240 kidney disorder oio:hasExactSynonym oio:hasRelatedSynonym nephropathy DOID:557 kidney disease DOID:557 nephropathy DOID:557 -MONDO:0005244 peripheral neuropathy oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy DOID:574 peripheral nervous system disease https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20, DOID:870 peripheral neuropathy DOID:574 MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia DOID:552 pneumonia DOID:552 acute pneumonia DOID:552 -MONDO:0005258 autism spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym atypical autism DOID:0060042 atypical autism DOID:0060042 atypical autism DOID:0060042 -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder DOID:0060041 autism spectrum disorder OMIM:209850 autism spectrum disorder DOID:0060041 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder DOID:12849 autistic disorder OMIM:209850 autistic disorder DOID:12849 MONDO:0005264 transient ischemic attack oio:hasExactSynonym oio:hasRelatedSynonym transient cerebral ischemia DOID:224 transient cerebral ischemia DOID:224 transient cerebral ischemia DOID:224 MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym allergic hypersensitivity disease DOID:1205 allergic disease DOID:1205 allergic hypersensitivity disease DOID:1205 @@ -1176,7 +985,6 @@ MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hyperse MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 serous carcinoma DOID:3114 MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 MONDO:0005291 brain aneurysm oio:hasExactSynonym oio:hasRelatedSynonym intracranial aneurysm DOID:10941 intracranial aneurysm DOID:10941 intracranial aneurysm DOID:10941 -MONDO:0005296 sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym mixed sleep apnea DOID:0080302 mixed sleep apnea MESH:D012891 mixed sleep apnea DOID:0080302 MONDO:0005297 urethritis oio:hasExactSynonym oio:hasNarrowSynonym Nongonococcal urethritis DOID:1343 urethritis DOID:1343 Nongonococcal urethritis DOID:1343 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym chronic renal failure syndrome DOID:784 chronic kidney disease DOID:784 chronic renal failure syndrome DOID:784 MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis DOID:2377 multiple sclerosis DOID:2377 generalized multiple sclerosis DOID:2377 @@ -1195,15 +1003,12 @@ MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' d MONDO:0005371 mood disorder oio:hasExactSynonym oio:hasNarrowSynonym episodic mood disorder DOID:3324 mood disorder episodic mood disorder DOID:3324 MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym bone marrow cancer DOID:4960 bone marrow cancer DOID:4960 bone marrow cancer DOID:4960 MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor malignant bone Marrow tumor DOID:4960 bone marrow cancer DOID:4960 malignant bone marrow tumor DOID:4960 -MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis DOID:2527 nephrosis NCIT:C34845 nephrosis DOID:2527 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym depressive neurosis DOID:4964 neurotic disorder DOID:4964, MTH:NOCODE depressive neurosis DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression DOID:4964 neurotic disorder DOID:4964 neurotic depression DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression reactive type neurotic depression reactive type Neurotic depression reactive type DOID:4964 neurotic disorder DOID:4964 neurotic depression reactive type DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depressive state neurotic depressive state Neurotic depressive state DOID:4964 neurotic disorder DOID:4964 neurotic depressive state DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym reactive depression DOID:4964 neurotic disorder DOID:4964 reactive depression DOID:4964 -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease DOID:3443 mammary Paget's disease NCIT:C3292 Paget's disease DOID:3443 MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease DOID:0050830 peripheral artery disease DOID:0050830 peripheral artery disease DOID:0050830 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause DOID:10787 premature menopause DOID:5426 premature menopause DOID:10787 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism DOID:5426 primary ovarian insufficiency DOID:5426 hypergonadotropic hypogonadism DOID:5426 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency MESH:D016649, Orphanet:619 premature ovarian failure DOID:5426 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian insufficiency DOID:5426 primary ovarian insufficiency DOID:5426 premature ovarian insufficiency DOID:5426 @@ -1223,8 +1028,6 @@ MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium endometrioid carcinoma of Endometrium DOID:2870 endometrial adenocarcinoma NCIT:C6287, DOID:2870 endometrioid carcinoma of endometrium DOID:2870 MONDO:0005480 contact dermatitis oio:hasExactSynonym oio:hasNarrowSynonym contact eczema contact eczema Contact eczema DOID:2773 contact dermatitis DOID:2773 contact eczema DOID:2773 MONDO:0005485 psychotic disorder oio:hasExactSynonym oio:hasBroadSynonym mental or behavioural disorder DOID:2468 psychotic disorder http://purl.obolibrary.org/obo/OMO_0003005 mental or behavioural disorder DOID:2468 -MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer NCIT:C27814 bile duct cancer DOID:4606 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism DOID:0050352 foodborne botulism DOID:11976 foodborne botulism DOID:0050352 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym food poisoning due to Clostridium botulinum food poisoning due to Clostridium botulinum Food poisoning due to Clostridium botulinum DOID:11976 botulism DOID:11976 food poisoning due to Clostridium botulinum DOID:11976 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism DOID:11976 botulism DOID:11976 foodborne botulism DOID:11976 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin Intoxication with Clostridium botulinum toxin DOID:11976 botulism DOID:11976 intoxication with Clostridium botulinum toxin DOID:11976 @@ -1244,13 +1047,10 @@ MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym mal MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm malignant renal Pelvis neoplasm DOID:4919 renal pelvis carcinoma DOID:4919, MONDO:patterns/cancer, NCIT:C7525 malignant renal pelvis neoplasm DOID:4919 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer DOID:4919 renal pelvis carcinoma MONDO:patterns/location, DOID:4919 renal pelvis cancer DOID:4919 MONDO:0005520 rickets oio:hasExactSynonym oio:hasRelatedSynonym active rickets DOID:10609 rickets DOID:10609 active rickets DOID:10609 -MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer DOID:10154 small intestine cancer NCIT:C7724 small intestine cancer DOID:10154 MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym cancer of the small bowel DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 cancer of the small bowel DOID:4907 MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym small bowel cancer DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 small bowel cancer DOID:4907 MONDO:0005528 inborn vitamin metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym vitamin metabolic disorder DOID:0050718 vitamin metabolic disorder DOID:0050718 vitamin metabolic disorder DOID:0050718 MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasRelatedSynonym disease by infectious agent DOID:0050117 disease by infectious agent DOID:0050117 disease by infectious agent DOID:0050117 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym enthesopathy DOID:204 enthesopathy MESH:D012216 enthesopathy DOID:204 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease DOID:65 connective tissue disease NCIT:C27204 connective tissue disease DOID:65 MONDO:0005557 calcium metabolic disease oio:hasExactSynonym oio:hasRelatedSynonym calcium metabolism disease DOID:10575 calcium metabolism disease DOID:10575 calcium metabolism disease DOID:10575 MONDO:0005559 neurodegenerative disease oio:hasExactSynonym oio:hasBroadSynonym degenerative disease DOID:1289 neurodegenerative disease DOID:1289 degenerative disease DOID:1289 MONDO:0005560 brain disorder oio:hasExactSynonym oio:hasNarrowSynonym encephalopathy DOID:936 brain disease DOID:936, NCIT:C26920 encephalopathy DOID:936 @@ -1259,11 +1059,9 @@ MONDO:0005567 substance withdrawal syndrome oio:hasExactSynonym oio:hasRelatedSy MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym purple toe syndrome DOID:1461 cholesterol embolism DOID:1461 purple toe syndrome DOID:1461 MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym trash foot DOID:1461 cholesterol embolism DOID:1461 trash foot DOID:1461 MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism DOID:1461 warfarin blue toe syndrome DOID:1461 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer DOID:219 colon cancer OMIM:114500 colon cancer DOID:219 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer DOID:5672 large intestine cancer DOID:5672 large intestine cancer DOID:5672 MONDO:0005578 arthritic joint disease oio:hasExactSynonym oio:hasNarrowSynonym inflammatory disorder of joint inflammatory disorder of joint Inflammatory disorder of joint DOID:848 arthritis DOID:848 inflammatory disorder of joint DOID:848 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma DOID:3007 breast ductal carcinoma NCIT:C4017 duct carcinoma DOID:3007 -MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma DOID:3008 invasive ductal carcinoma NCIT:C4017 ductal adenocarcinoma DOID:3008 MONDO:0005614 pancreatic adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of the pancreas DOID:5637 pancreatic adenosquamous carcinoma NCIT:C5721, DOID:5637 adenosquamous carcinoma of the pancreas DOID:5637 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma - solitary myeloma - solitary Myeloma - solitary DOID:3721 plasmacytoma DOID:3721 myeloma - solitary DOID:3721 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma, solitary myeloma, solitary Myeloma, solitary DOID:3721 plasmacytoma DOID:3721 myeloma, solitary DOID:3721 @@ -1278,7 +1076,6 @@ MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute append MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with generalized peritonitis DOID:8337 appendicitis DOID:8337 acute appendicitis with generalized peritonitis DOID:8337 MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with peritoneal abscess DOID:8337 appendicitis DOID:8337 acute appendicitis with peritoneal abscess DOID:8337 MONDO:0005664 bartonellosis oio:hasExactSynonym oio:hasRelatedSynonym Rochalimaea infection DOID:11102 bartonellosis MESH:D001474 Rochalimaea infection DOID:11102 -MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy DOID:13934 facial paralysis NCIT:C26769 facial palsy DOID:13934 MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym poultry worker's lung DOID:13891 bird fancier's lung DOID:13891 poultry worker's lung DOID:13891 MONDO:0005690 Caplan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Caplan's syndrome DOID:10326 Caplan's syndrome DOID:10326 Caplan's syndrome DOID:10326 MONDO:0005694 cecal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cecal benign neoplasm DOID:1517 cecal benign neoplasm DOID:1517 cecal benign neoplasm DOID:1517 @@ -1291,10 +1088,6 @@ MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym hydatidosi MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym pulmonary echinococcosis DOID:1496 echinococcosis DOID:1496 pulmonary echinococcosis DOID:1496 MONDO:0005744 yolk sac tumor oio:hasExactSynonym oio:hasNarrowSynonym infantile embryonal carcinoma DOID:1911 endodermal sinus tumor DOID:1911 infantile embryonal carcinoma DOID:1911 MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym oio:hasBroadSynonym Madura foot DOID:13078 eumycotic mycetoma ICD9CM:039.4, DOID:13078 Madura foot DOID:13078 -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis Elephantiasis elephantiasis DOID:4976 elephantiasis NORD:1082 Elephantiasis DOID:4976 -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis DOID:4976 elephantiasis NCIT:C128360, GARD:0003321 elephantiasis DOID:4976 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma NCIT:C9281, DOID:6262 follicular Dendritic cell sarcoma DOID:7849 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma MONDO:patterns/location follicular dendritic cell sarcoma DOID:7849 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type 2 DOID:9210 herpes zoster oticus DOID:9210 Ramsay Hunt syndrome type 2 DOID:9210 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type II DOID:9210 herpes zoster oticus DOID:9210 Ramsay Hunt syndrome type II DOID:9210 MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasNarrowSynonym Puumala virus nephropathy DOID:11266 Hantavirus hemorrhagic fever with renal syndrome DOID:11266 Puumala virus nephropathy DOID:11266 @@ -1348,11 +1141,9 @@ MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym spleen neopl MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic neoplasm DOID:672 spleen cancer DOID:672, NCIT:C3383 splenic neoplasm DOID:672 MONDO:0005972 streptococcal pneumonia oio:hasExactSynonym oio:hasRelatedSynonym Streptococcus pneumonia DOID:0040084 Streptococcus pneumonia DOID:0040084 Streptococcus pneumonia DOID:0040084 MONDO:0005993 Trichomonas vaginitis urogenital infection oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas vaginalis trichomoniasis DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C61574 endometrial cancer DOID:1380 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma DOID:3737 verrucous carcinoma DOID:3737 warty carcinoma DOID:3737 MONDO:0006011 viral hepatitis oio:hasExactSynonym oio:hasNarrowSynonym viral hepatitis with hepatic coma viral hepatitis with hepatic coma Viral hepatitis with hepatic coma DOID:1884 viral hepatitis DOID:1884 viral hepatitis with hepatic coma DOID:1884 MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal cancer DOID:1519 cecum carcinoma NCIT:C3491, DOID:1519 cecal cancer DOID:1519 -MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecum cancer DOID:1521 cecum cancer NCIT:C3491 cecum cancer DOID:1521 MONDO:0006043 metaplastic breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast metaplastic carcinoma DOID:4680 breast metaplastic carcinoma DOID:4680 breast metaplastic carcinoma DOID:4680 MONDO:0006043 metaplastic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma NCIT:C5164, DOID:4680 metaplastic carcinoma of breast DOID:4680 MONDO:0006047 pancreatic adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma NCIT:C8294, DOID:4074 adenocarcinoma of the pancreas DOID:4074 @@ -1367,7 +1158,6 @@ MONDO:0006187 duodenal villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0006189 eccrine porocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine porocarcinoma of skin eccrine porocarcinoma of skin Eccrine porocarcinoma of skin DOID:7566 eccrine porocarcinoma GARD:0007431 eccrine porocarcinoma of skin DOID:7566 MONDO:0006196 endometrial serous adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym uterine serous carcinoma DOID:5750 endometrial serous adenocarcinoma NCIT:C27838, DOID:5750 uterine serous carcinoma DOID:5750 MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fallopian tube DOID:1963 fallopian tube carcinoma NCIT:C3867, DOID:1963 cancer of the fallopian tube DOID:1963 -MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym fallopian tube cancer DOID:1964 fallopian tube cancer NCIT:C3867 fallopian tube cancer DOID:1964 MONDO:0006217 gallbladder adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma NCIT:C7356, DOID:5627 adenosquamous carcinoma of gallbladder DOID:5627 MONDO:0006220 gallbladder squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma NCIT:C9170, DOID:5535 squamous cell carcinoma of the gallbladder DOID:5535 MONDO:0006235 granular cell tumor oio:hasExactSynonym oio:hasNarrowSynonym neoplasm of granular cell DOID:2411 granular cell tumor DOID:2411, NCIT:C3474 neoplasm of granular cell DOID:2411 @@ -1392,14 +1182,10 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasRelatedSynonym MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma DOID:369 olfactory neuroblastoma NCIT:C3789 Esthesioneuroepithelioma DOID:369 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma DOID:369 olfactory neuroblastoma NCIT:C3789 esthesioneuroblastoma DOID:369 MONDO:0006335 ovarian endometrioid adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma DOID:5828, NCIT:C7979 endometrioid carcinoma of ovary DOID:5828 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:OYST yolk sac tumor DOID:1911 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 -MONDO:0006360 penile carcinoma oio:hasExactSynonym oio:hasBroadSynonym penile cancer DOID:11615 penile cancer NCIT:C9061 penile cancer DOID:11615 MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic adenoma carcinoma DOID:297 pleomorphic adenoma carcinoma DOID:297 pleomorphic adenoma carcinoma DOID:297 MONDO:0006446 testicular embryonal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma DOID:5680, NCIT:C6341 embryonal carcinoma of the testis DOID:5680 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor DOID:2671 transitional cell carcinoma NCIT:C6783, DOID:2671 transitional cell tumor DOID:2671 MONDO:0006474 transitional cell carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym transitional cell neoplasm DOID:2671 transitional cell carcinoma DOID:2671 transitional cell neoplasm DOID:2671 -MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer DOID:11819 ureter cancer NCIT:C8993 ureter cancer DOID:11819 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 vaginal carcinosarcoma DOID:136 malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed Mullerian tumor DOID:136 vaginal carcinosarcoma DOID:136 vaginal malignant mixed Mullerian tumor DOID:136 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (mullerian) tumor DOID:136 vaginal carcinosarcoma NCIT:C40278 vaginal malignant mixed mesodermal (Mullerian) tumor DOID:136 @@ -1413,10 +1199,7 @@ MONDO:0006522 acquired keratosis oio:hasExactSynonym oio:hasRelatedSynonym acqui MONDO:0006540 dyshidrosis oio:hasExactSynonym oio:hasRelatedSynonym pompholyx DOID:9230 pompholyx DOID:9230 pompholyx DOID:9230 MONDO:0006558 pemphigoid gestationis oio:hasExactSynonym oio:hasRelatedSynonym pemphigus gestationis DOID:0040098 pemphigus gestationis DOID:0040098 pemphigus gestationis DOID:0040098 MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym oio:hasNarrowSynonym acne inversa, familial acne inversa, familial Acne inversa, familial DOID:2280 hidradenitis suppurativa DOID:2280 acne inversa, familial DOID:2280 -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina DOID:0070321 miliaria crystallina DOID:11153 miliaria crystallina DOID:0070321 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym oio:hasRelatedSynonym pityriasis capitis pityriasis capitis Pityriasis capitis DOID:8941 seborrheic infantile dermatitis DOID:8941 pityriasis capitis DOID:8941 -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasRelatedSynonym bullous skin disease DOID:8502 bullous skin disease MESH:D012872 bullous skin disease DOID:8502 -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasNarrowSynonym subcorneal pustular dermatosis DOID:8508 subcorneal pustular dermatosis MESH:D012872 subcorneal pustular dermatosis DOID:8508 MONDO:0006633 acalculous cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute acalculous cholecystitis DOID:2828 acalculous cholecystitis DOID:2828 acute acalculous cholecystitis DOID:2828 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer DOID:660 adrenal cortex cancer NCIT:C9325 adrenal cortex cancer DOID:660 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortical tumors adrenal cortical tumors Adrenal cortical tumors DOID:660 adrenal cortex cancer DOID:660 adrenal cortical tumors DOID:660 @@ -1426,8 +1209,6 @@ MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym m MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 Laennec's cirrhosis DOID:14018 MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis, alcoholic DOID:14018 alcoholic liver cirrhosis DOID:14018 Laennec's cirrhosis, alcoholic DOID:14018 MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym portal cirrhosis portal cirrhosis Portal cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 portal cirrhosis DOID:14018 -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis DOID:9383 iridocyclitis Orphanet:280886 iridocyclitis DOID:9383 -MONDO:0006652 anterolateral myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym anteroseptal myocardial infarction DOID:5855 anteroseptal myocardial infarction MESH:D056988 anteroseptal myocardial infarction DOID:5855 MONDO:0006673 pituitary gland basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym basophil adenoma DOID:4542 basophil adenoma DOID:4542 basophil adenoma DOID:4542 MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm DOID:12759 choroid cancer DOID:12759 choroid neoplasm DOID:12759 MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal tumor DOID:12759 choroid cancer NCIT:C2949, DOID:12759 choroidal tumor DOID:12759 @@ -1435,12 +1216,9 @@ MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedS MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic fibroma pleomorphic fibroma Pleomorphic fibroma DOID:4418 cutaneous fibrous histiocytoma DOID:4418 pleomorphic fibroma DOID:4418 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym duodenal benign neoplasm DOID:1737 duodenal benign neoplasm DOID:1737 duodenal benign neoplasm DOID:1737 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum DOID:1737 duodenal benign neoplasm NCIT:C2995, DOID:1737 neoplasm of the duodenum DOID:1737 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma DOID:3896 hidradenoma MESH:D018250, GARD:0005726 hidradenoma DOID:3896 MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome DOID:11512 -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma DOID:2634 cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ cystadenoma DOID:2634 MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym apocrine cystadenoma DOID:3893 hidrocystoma DOID:3893 apocrine cystadenoma DOID:3893 MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine cystadenoma eccrine cystadenoma Eccrine Cystadenoma DOID:3893 hidrocystoma DOID:3893 eccrine cystadenoma DOID:3893 -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis DOID:12731 pars planitis NCIT:C35110 pars planitis DOID:12731 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the ankle and foot DOID:381 arthropathy DOID:381 Joint ankylosis of the ankle and foot DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the forearm DOID:381 arthropathy DOID:381 Joint ankylosis of the forearm DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the hand DOID:381 arthropathy DOID:381 Joint ankylosis of the hand DOID:381 @@ -1458,39 +1236,30 @@ MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of multiple joints ankylosis of multiple joints Ankylosis of multiple joints DOID:381 arthropathy DOID:381 ankylosis of multiple joints DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of upper arm joint DOID:381 arthropathy DOID:381 ankylosis of upper arm joint DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym infectious arthropathy infectious arthropathy Infectious arthropathy DOID:381 arthropathy DOID:381 infectious arthropathy DOID:381 -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism NCIT:C34752 hypogonadotropic hypogonadism DOID:0090070 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome NCIT:C34752 hypogonadotropic hypogonadism DOID:1921 -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome DOID:13095 vertebral artery insufficiency GARD:0009263 Vertebral artery syndrome DOID:13095 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome lateral medullary syndrome DOID:3522 lateral medullary syndrome GARD:0009263 Lateral medullary syndrome DOID:3522 MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasExactSynonym oio:hasRelatedSynonym lethal midline granuloma DOID:9072 lethal midline granuloma DOID:9072 lethal midline granuloma DOID:9072 MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change glomerulonephritis nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 lipoid nephrosis ICD9CM:581.3, DOID:10966 nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change nephrotic syndrome nephrotic syndrome with lesion of minimal change nephrotic syndrome Nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 lipoid nephrosis DOID:10966 nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma DOID:8683 myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma DOID:8683 -MONDO:0006879 optic papillitis oio:hasExactSynonym oio:hasRelatedSynonym retinal edema DOID:6929 retinal edema MESH:D010211 retinal edema DOID:6929 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's syndrome DOID:8007 Pancoast tumor DOID:8007 Pancoast's syndrome DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pulmonary sulcus tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 pulmonary sulcus tumour DOID:8007 MONDO:0006890 parathyroid gland adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of parathyroid DOID:7608 parathyroid adenoma DOID:7608, NCIT:C3916 adenoma of parathyroid DOID:7608 MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor malignant Sebaceous tumor DOID:4840 sebaceous carcinoma DOID:4840, NCIT:C8409 malignant sebaceous tumor DOID:4840 MONDO:0006972 silo filler disease oio:hasExactSynonym oio:hasRelatedSynonym silo filler's disease silo filler's disease Silo filler's disease DOID:4374 Silo filler's disease DOID:4374 silo filler's disease DOID:4374 MONDO:0007004 type III hypersensitivity disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity reaction type III disease DOID:1557 hypersensitivity reaction type III disease DOID:1557 hypersensitivity reaction type III disease DOID:1557 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog Syndrome Aarskog Syndrome Aarskog syndrome DOID:0111824 Aarskog syndrome NORD:702 Aarskog Syndrome DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome DOID:6683 Aarskog syndrome DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome DOID:6683 faciogenital dysplasia DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome DOID:6683 Aarskog-Scott syndrome DOID:6683 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder DOID:10865 abducens nerve palsy NCIT:C27593, DOID:10865 VIth nerve disorder DOID:10865 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease DOID:10865 abducens nerve palsy DOID:10865 abducens nerve disease DOID:10865 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens palsy DOID:10865 abducens nerve palsy OMIM:100200 abducens palsy DOID:10865 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis NCIT:C3274 acoustic neurofibromatosis DOID:0111252 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type II DOID:0111252 vestibular schwannomatosis GARD:0007193 neurofibromatosis type II DOID:0111252 MONDO:0007040 Sakati-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sakati syndrome DOID:0060359 Sakati-Nyhan syndrome GARD:0000115 Sakati syndrome DOID:0060359 -MONDO:0007047 punctate palmoplantar keratoderma type III oio:hasExactSynonym oio:hasRelatedSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000133 TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym pituitary adenoma 1, multiple types DOID:0112009 pituitary adenoma 1 OMIM:102200 pituitary adenoma 1, multiple types DOID:0112009 MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym PITA1 DOID:0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102200 PITA1 DOID:0112009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Acromicric skeletal dysplasia Acromicric skeletal dysplasia acromicric skeletal dysplasia DOID:0111243 acromicric dysplasia GARD:0000007 Acromicric skeletal dysplasia DOID:0111243 MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ACMICD DOID:0111243 acromicric dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102370, MONDO:Lexical ACMICD DOID:0111243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007057 Acroosteolysis dominant type oio:hasExactSynonym oio:hasRelatedSynonym HJCYS DOID:2736 Hajdu-Cheney syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102500, MONDO:Lexical HJCYS DOID:2736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym SPGF6 DOID:0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:102530 SPGF6 DOID:0070167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 OMIM:102530 globozoospermia DOID:0111156 MONDO:0007068 adenylosuccinate lyase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adenylosuccinase lyase deficiency DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-tooth syndrome DOID:0050601 ADULT syndrome OMIM:103285 acro-dermato-ungual-lacrimal-Tooth syndrome DOID:0050601 MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I DOID:14080 glucocorticoid-remediable aldosteronism Orphanet:403 familial hyperaldosteronism type I DOID:14080 @@ -1498,27 +1267,20 @@ MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:ha MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100 keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100, MONDO:Lexical palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym PPKCA1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:104100 PPKCA1 DOID:0111244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007088 Alzheimer disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease DOID:10652 Alzheimer's disease OMIM:104300 Alzheimer disease DOID:10652 MONDO:0007092 amelogenesis imperfecta type 1B oio:hasExactSynonym oio:hasRelatedSynonym AIH2 DOID:0110052 amelogenesis imperfecta type 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110052, OMIM:104500 AIH2 DOID:0110052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis DOID:0050637 Finnish type amyloidosis Orphanet:85448 AGel amyloidosis DOID:0050637 MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, Meretoja type amyloidosis, Meretoja type AMYLOIDOSIS, MERETOJA TYPE DOID:0050637 Finnish type amyloidosis OMIM:105120 amyloidosis, Meretoja type DOID:0050637 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym CST3-related cerebral amyloid angiopathy DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy DOID:9246 cerebral amyloid angiopathy OMIM:105150, OMIM:genemap2 cerebral amyloid angiopathy DOID:9246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 DOID:0111246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam DOID:0111246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-PDC ALS-pDC ALS-PDC DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105500 ALS-PDC DOID:0111246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 DOID:0060213 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer DOID:0050688 anal canal cancer NCIT:C7489 anal canal cancer DOID:0050688 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma DOID:7173 cloacogenic carcinoma OMIM:105580 cloacogenic carcinoma DOID:7173 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III OMIM:105600 anemia with multinucleated erythroblasts DOID:0111399 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anaemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/OMO_0003005 anaemia with multinucleated erythroblasts DOID:0111399 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDAN3 DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105600, MONDO:Lexical CDAN3 DOID:0111399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 DOID:0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 DOID:0111895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome DOID:4297 scimitar syndrome DOID:4297 scimitar syndrome DOID:4297 -MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 MONDO:Lexical, OMIM:107250 anterior segment mesenchymal dysgenesis DOID:0110122 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Uhl anomaly DOID:0110070 arrhythmogenic right ventricular dysplasia 1 OMIM:107970 Uhl anomaly DOID:0110070 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis OMIM:108120 arthrogryposis multiplex congenita DOID:0050646 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita OMIM:108120 arthrogryposis multiplex congenita DOID:0080954 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 distal arthrogryposis type 5 Orphanet:1154 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA5 DOID:0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108145, MONDO:Lexical DA5 DOID:0111608 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis and sensorineural deafness DOID:0111609 distal arthrogryposis type 6 OMIM:108200 arthrogryposis and sensorineural deafness DOID:0111609 @@ -1532,7 +1294,6 @@ MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's MONDO:0007191 Behcet disease oio:hasRelatedSynonym oio:hasExactSynonym Behcet's syndrome DOID:13241 Behcet's disease doi:10.1093/jama/9780195176339.003.0016, ICD9CM:136.1, MONDO:LexicalVariant, DOID:13241 Behcet's syndrome DOID:13241 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 biliary cirrhosis, primary, 1 BILIARY CIRRHOSIS, PRIMARY, 1 DOID:0070358 primary biliary cholangitis 1 OMIM:109720, MONDO:Lexical biliary cirrhosis, primary, 1 DOID:0070358 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 DOID:0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical PBC1 DOID:0070358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 DOID:0080333 aortic valve disease 1 OMIM:109730, MONDO:Lexical aortic valve disease 1 DOID:0080333 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome NORD:862 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome DOID:14778 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, epicanthus inversus syndrome blepharophimosis, ptosis, epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:Lexical, OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 @@ -1542,29 +1303,19 @@ MONDO:0007211 brachydactyly-arterial hypertension syndrome oio:hasExactSynonym o MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 brachydactyly type A6 OMIM:112910 Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome DOID:0110968 brachydactyly type A6 OMIM:112910 OSEBOLD-Remondini syndrome DOID:0110968 MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BOR1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113650 BOR1 DOID:0111423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Melnick-Fraser syndrome DOID:14702 branchiootorenal syndrome OMIM:113650 Melnick-Fraser syndrome DOID:14702 -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym branchiootorenal dysplasia DOID:14702 branchiootorenal syndrome OMIM:113650 branchiootorenal dysplasia DOID:14702 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma Bullous ichthyosiform erythroderma DOID:4603 epidermolytic hyperkeratosis OMIM:113800 bullous ichthyosiform erythroderma DOID:4603 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block type IA DOID:0111074 progressive familial heart block type IA DOID:0111074 progressive familial heart block type IA DOID:0111074 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasNarrowSynonym acampomelic campomelic dysplasia acampomelic campomelic dysplasia Acampomelic Campomelic Dysplasia DOID:0050463 campomelic dysplasia OMIM:114290, DOID:0050463 acampomelic campomelic dysplasia DOID:0050463 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 CMPD DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007252 Gordon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA3 DOID:0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114300, MONDO:Lexical DA3 DOID:0111607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor DOID:1612 breast cancer NCIT:C2910, DOID:1612 breast tumor DOID:1612 MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym mammary tumor DOID:1612 breast cancer DOID:1612 mammary tumor DOID:1612 MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasNarrowSynonym primary breast cancer DOID:1612 breast cancer DOID:1612 primary breast cancer DOID:1612 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma DOID:0070328 adult hepatocellular carcinoma NCIT:C7956, DOID:684 adult hepatoma DOID:0070328 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma DOID:0070328 adult hepatocellular carcinoma DOID:684 adult primary hepatocellular carcinoma DOID:0070328 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer DOID:3571 liver cancer OMIM:114550 liver cancer DOID:3571 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic bile duct carcinoma DOID:686 liver carcinoma NCIT:C7927, DOID:686 liver and intrahepatic bile duct carcinoma DOID:686 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma DOID:687 hepatoblastoma OMIM:114550 hepatoblastoma DOID:687 -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:115150 CFC syndrome DOID:0060233 -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 cardiofaciocutaneous syndrome DOID:0060233 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 DOID:0111460 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 CFC1 DOID:0111460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007270 cardiomyopathy, familial restrictive, 1 oio:hasExactSynonym oio:hasRelatedSynonym RCM1 DOID:0111425 restrictive cardiomyopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:115210, MONDO:Lexical RCM1 DOID:0111425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007289 cataract 13 with adult I phenotype oio:hasExactSynonym oio:hasRelatedSynonym cataract 13 with ADULT I phenotype cataract 13 with ADULT I phenotype cataract 13 with adult i phenotype DOID:0110242 cataract 13 with adult i phenotype OMIM:116700 cataract 13 with ADULT I phenotype DOID:0110242 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 immunodeficiency DOID:0110910 leukocyte adhesion deficiency 1 OMIM:116920 Lfa1 immunodeficiency DOID:0110910 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 DOID:0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 LAD1 DOID:0110910 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency DOID:6612 leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency DOID:6612 MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis cerebellar ataxia, cataract, deafness, and dementia or psychosis Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 OMIM:117300 cerebellar ataxia, cataract, deafness, and dementia or psychosis DOID:0070030 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCM syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 CCM syndrome DOID:0111248 @@ -1572,14 +1323,10 @@ MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelated MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebro-costo-mandibular syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 cerebro-costo-mandibular syndrome DOID:0111248 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym rib Gap defects with micrognathia rib Gap defects with micrognathia rib gap defects with micrognathia DOID:0111248 cerebrocostomandibular syndrome OMIM:117650 rib Gap defects with micrognathia DOID:0111248 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCMS DOID:0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:117650 CCMS DOID:0111248 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome NORD:1336 Klippel-Feil Syndrome DOID:10426 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 OMIM:118210 hereditary motor and sensory neuropathy IIa1 DOID:0110154 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym HMSN IIA1 HMSN IIa1 HMSN IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118210 HMSN IIA1 DOID:0110154 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cleft palate DOID:674 cleft palate OMIM:119540 cleft palate DOID:674 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 Cpls syndrome DOID:0080313 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 syngnathia DOID:0080313 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 DOID:0080345 blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 DOID:0080345 -MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS Fcas FCAS DOID:0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100 FCAS DOID:0090061 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS1 DOID:0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100, MONDO:Lexical FCAS1 DOID:0090062 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome papillorenal syndrome DOID:0090006 renal coloboma syndrome MONDO:Lexical, OMIM:120330 PAPILLORENAL syndrome DOID:0090006 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc DOID:11975 coloboma of optic nerve http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc DOID:11975 @@ -1588,22 +1335,15 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym uveal coloboma-cleft lip/palate-mental retardation syndrome uveal coloboma-cleft lip/palate-mental retardation syndrome Uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0001440 uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym COB1 DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:120433 COB1 DOID:0111249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 DOID:0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 COCA1 DOID:0070271 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 cone-rod dystrophy DOID:0050572 -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod retinal dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 cone-rod retinal dystrophy DOID:0050572 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 congenital contractural arachnodactyly GARD:0005899 Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arachnodactyly, contractural Beals type DOID:0111595 congenital contractural arachnodactyly GARD:0005899 arachnodactyly, contractural Beals type DOID:0111595 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym contractures, multiple with arachnodactyly DOID:0111595 congenital contractural arachnodactyly GARD:0005899 contractures, multiple with arachnodactyly DOID:0111595 MONDO:0007377 granular corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Groenouw type I DOID:0080530 granular corneal dystrophy 1 MONDO:Lexical, OMIM:121900 corneal dystrophy, Groenouw type I DOID:0080530 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy OMIM:122000 posterior polymorphous corneal dystrophy DOID:0060457 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 DOID:0110855 posterior polymorphous corneal dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 PPCD1 DOID:0110855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cornelia DE Lange syndrome 1 Cornelia DE Lange syndrome 1 Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 OMIM:122470 Cornelia DE Lange syndrome 1 DOID:0080505 -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym De Lange syndrome DOID:11725 Cornelia de Lange syndrome OMIM:122470 De Lange syndrome DOID:11725 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis NORD:1915 Spondylothoracic Dysplasia DOID:0050568 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance DOID:0080665 warfarin resistance OMIM:122700 warfarin resistance DOID:0080665 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 5P deletion syndrome chromosome 5P deletion syndrome chromosome 5p deletion syndrome DOID:12580 Cri-Du-Chat syndrome OMIM:123450 chromosome 5P deletion syndrome DOID:12580 MONDO:0007411 cutis laxa, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant cutis laxa 1 DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial complex III deficiency DOID:0111139 mitochondrial complex III deficiency GARD:0008295 mitochondrial complex III deficiency DOID:0111139 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica DOID:0050201 nephropathia epidemica OMIM:124100 nephropathia epidemica DOID:0050201 MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym DEFN DOID:3052 Balkan nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124100, DOID:3052 DEFN DOID:3052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym KHM DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003092 KHM DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym VOWNKL DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124500 VOWNKL DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1613,15 +1353,12 @@ MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption DOID:0111341 primary failure of tooth eruption OMIM:125350 dental noneruption DOID:0111341 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym unerupted second primary molar DOID:0111341 primary failure of tooth eruption OMIM:125350 unerupted second primary molar DOID:0111341 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR DOID:0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 DPR DOID:0111342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria DOID:1554 vibratory urticaria MESH:C536612 vibratory urticaria DOID:1554 MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermatographia DOID:743 dermatographia GARD:0009480 dermatographia DOID:743 MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dyskeratosis congenita 1 DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 MONDO:0007488 Lewy body dementia oio:hasExactSynonym oio:hasRelatedSynonym diffuse Lewy body disease diffuse Lewy body disease Diffuse Lewy body disease DOID:12217 Lewy body dementia Orphanet:1648, OMIM:127750 diffuse Lewy body disease DOID:12217 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia 1 DOID:0060730 torsion dystonia 1 DOID:0060730 torsion dystonia 1 DOID:0060730 -MONDO:0007496 dystonia 12 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 12 dystonia 12 Dystonia 12 DOID:0050835 generalized dystonia MONDO:Lexical, Orphanet:71517, OMIM:128235 dystonia 12 DOID:0050835 MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Basan syndrome Basan syndrome BASAN syndrome DOID:0080725 BASAN syndrome GARD:0002336, OMIM:129200 Basan syndrome DOID:0080725 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 DOID:0080401 orofacial cleft 8 OMIM:129400 orofacial cleft 8 DOID:0080401 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A DOID:0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 ECTD10A DOID:0111663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type DOID:14693 Clouston syndrome OMIM:129500 ectodermal dysplasia 2, Clouston type DOID:14693 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant isolated ectopia lentis 1 DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 @@ -1632,7 +1369,6 @@ MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasRelatedSyno MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta hypomineralization type DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta hypomineralization type DOID:0110055 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta type III DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type III DOID:0110055 -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple endocrine adenomatosis DOID:3125 multiple endocrine neoplasia NCIT:C3225 multiple endocrine adenomatosis DOID:3125 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation OMIM:131960 speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBSMP DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131960, MONDO:Lexical EBSMP DOID:0111346 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1655,34 +1391,23 @@ MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym Ca midd MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of lower third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant neoplasm of lower third of oesophagus DOID:5041 MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of middle third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant neoplasm of middle third of oesophagus DOID:5041 MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 EVR1 DOID:0111412 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity DOID:13025 retinopathy of prematurity OMIM:133780 retinopathy of prematurity DOID:13025 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva DOID:13374 -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym familial infiltrative fibromatosis DOID:0111349 hereditary desmoid disease GARD:0001820 familial infiltrative fibromatosis DOID:0111349 -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym FIF DOID:0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001820 FIF DOID:0111349 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome DOID:0081021 Tukel syndrome DOID:0080143 Tukel syndrome DOID:0081021 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 mirror-Image polydactyly DOID:0111350 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym tetramelic mirror-Image polydactyly tetramelic mirror-Image polydactyly tetramelic mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 tetramelic mirror-Image polydactyly DOID:0111350 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 OMIM:135900, DOID:0070042 fifth digit syndrome DOID:0070042 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome DOID:1925 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome DOID:1925 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome OMIM:135900, DOID:0070042 fifth digit syndrome DOID:1925 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym absence of fingerprints absence of fingerprints Absence of fingerprints DOID:0111357 adermatoglyphia GARD:0012550, DOID:0111357 absence of fingerprints DOID:0111357 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia DOID:0111357 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 adermatoglyphia DOID:0111357 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym ADG DOID:0111357 adermatoglyphia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012550, DOID:0111357 ADG DOID:0111357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS DOID:0111358 Floating-Harbor syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 FLHS DOID:0111358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 foveal hypoplasia 1 OMIM:136520 foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FVH1 DOID:0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136520, MONDO:Lexical FVH1 DOID:0070530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia DOID:0081044 frontonasal dysplasia OMIM:136760 frontonasal dysplasia DOID:0081044 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 OMIM:136760, MONDO:Lexical frontonasal dysplasia 1 DOID:0081045 MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens DOID:11105 fundus albipunctatus DOID:11105, OMIM:136880 retinitis punctata albescens DOID:11105 -MONDO:0007648 hereditary diffuse gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym diffuse gastric cancer DOID:0080763 diffuse gastric cancer GARD:0010334 diffuse gastric cancer DOID:0080763 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital fissure of tongue congenital fissure of tongue Congenital fissure of tongue DOID:11514 fissured tongue DOID:11514 congenital fissure of tongue DOID:11514 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital plicated tongue congenital plicated tongue Congenital plicated tongue DOID:11514 fissured tongue DOID:11514 congenital plicated tongue DOID:11514 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym fissure of tongue, congenital fissure of tongue, congenital Fissure of tongue, congenital DOID:11514 fissured tongue DOID:11514, ICD9CM:750.13 fissure of tongue, congenital DOID:11514 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome DOID:11119 Gilles de la Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome DOID:11119 -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasBroadSynonym iridogoniodysgenesis syndrome DOID:0050786 iridogoniodysgenesis syndrome OMIM:137600 iridogoniodysgenesis syndrome DOID:0050786 -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasRelatedSynonym iridogoniodysgenesis type 2 DOID:0050786 iridogoniodysgenesis syndrome GARD:0003026 iridogoniodysgenesis type 2 DOID:0050786 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 DOID:0111101 maturity-onset diabetes of the young type 5 DOID:0111101 maturity-onset diabetes of the young type 5 DOID:0111101 -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis DOID:6906 glomangiomatosis Orphanet:83454 glomangiomatosis DOID:6906 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis DOID:7188 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, deletion-type Alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:141750 Alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 @@ -1695,21 +1420,12 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym oio:hasRelatedSynonym HLP3 MONDO:0007737 humeroradial synostosis oio:hasRelatedSynonym oio:hasExactSynonym humero-radial fusion DOID:0060467 humeroradial synostosis DOID:0060467, Orphanet:3265 humero-radial fusion DOID:0060467 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 spondyloepiphyseal dysplasia DOID:0050813 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital JOINT dislocations DOID:0050813 -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia DOID:0050813 spondyloepiphyseal dysplasia DOID:0112280 MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym HALP1 DOID:0111369 hyperalphalipoproteinemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143470, MONDO:Lexical HALP1 DOID:0111369 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis DOID:0050428 nonepidermolytic palmoplantar keratoderma OMIM:144200 tylosis DOID:0050428 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of kidney DOID:4450 renal cell carcinoma OMIM:144700 adenocarcinoma of kidney DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma OMIM:144700 hypernephroma DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma DOID:4450 renal cell carcinoma OMIM:genemap2, OMIM:144700 renal cell carcinoma DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym RCC DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:144700 RCC DOID:4450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym clear cell renal cell carcinoma DOID:4467 clear cell renal cell carcinoma Orphanet:319276 clear cell renal cell carcinoma DOID:4467 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym melanosis universalis hereditaria DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation OMIM:145250 melanosis universalis hereditaria DOID:0111373 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym FPHH DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:145250 FPHH DOID:0111373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym pituitary resistance to thyroid hormone DOID:0111374 selective pituitary thyroid hormone resistance Orphanet:165994 pituitary resistance to thyroid hormone DOID:0111374 MONDO:0007805 hypotrichosis 2 oio:hasExactSynonym oio:hasRelatedSynonym HYPT2 DOID:0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146520 HYPT2 DOID:0110699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris DOID:1702 ichthyosis vulgaris OMIM:146700 ichthyosis vulgaris DOID:1702 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070523 peeling skin syndrome 4 OMIM:146800 ichthyosis exfoliativa DOID:0070523 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070524 peeling skin syndrome 5 OMIM:146800 ichthyosis exfoliativa DOID:0070524 MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MARSILI syndrome MARSILI syndrome Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 MARSILI syndrome DOID:0081075 MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 Marsili syndrome DOID:0081075 MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ICP1 DOID:0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147480, MONDO:Lexical ICP1 DOID:0070228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1719,7 +1435,6 @@ MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS DOID:0111381 IVIC syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 OORS DOID:0111381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 chromosome 11q deletion syndrome DOID:0111723 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 partial 11q monosomy syndrome DOID:0111723 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS DOID:14694 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS DOID:14694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym Coxo-podo-patellar syndrome Coxo-podo-patellar syndrome coxo-podo-patellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 Coxo-podo-patellar syndrome DOID:0111382 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ischiocoxopodopatellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome OMIM:147891 ischiocoxopodopatellar syndrome DOID:0111382 @@ -1734,7 +1449,6 @@ MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome oio:hasExac MONDO:0007858 palmoplantar keratoderma, punctate type 1A oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type 1A DOID:0080214 punctate palmoplantar keratoderma type I DOID:0080214 punctate palmoplantar keratoderma type 1A DOID:0080214 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris striata 1 DOID:0081108 keratosis palmoplantaris striata 1 OMIM:148700 keratosis palmoplantaris striata 1 DOID:0081108 MONDO:0007860 focal palmoplantar and gingival keratoderma oio:hasExactSynonym oio:hasRelatedSynonym focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 focal palmoplantar and gingival keratosis OMIM:148730 focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 -MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kok disease DOID:0060695 hyperekplexia OMIM:149400 Kok disease DOID:0060695 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia DOID:0080833 laryngomalacia OMIM:150280 laryngomalacia DOID:0080833 MONDO:0007885 Legg-Calve-Perthes disease oio:hasRelatedSynonym oio:hasExactSynonym Legg-Calve-Perthes symptom DOID:14415 Legg-Calve-Perthes disease DOID:14415 Legg-Calve-Perthes symptom DOID:14415 MONDO:0007886 uterine corpus leiomyoma oio:hasExactSynonym oio:hasRelatedSynonym uterine leiomyoma DOID:13223 uterine fibroid DOID:13223, ICD9CM:218 uterine leiomyoma DOID:13223 @@ -1744,9 +1458,6 @@ MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:h MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed platyspondylic dwarfism, Torrance type DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 lethal short-limbed Platyspondylic dwarfism, Torrance type DOID:0111508 MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia, Torrance variant DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 thanatophoric dysplasia, Torrance variant DOID:0111508 MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym PLSDT DOID:0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151210, MONDO:Lexical PLSDT DOID:0111508 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia DOID:8527 monocytic leukemia NCIT:C4861 monocytic leukemia DOID:8527 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukaemia DOID:8527 monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 monocytic leukaemia DOID:8527 -MONDO:0007909 familial multiple lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym lipoma DOID:3315 lipoma OMIM:151900 lipoma DOID:3315 MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema with distichiasis DOID:0111509 lymphedema-distichiasis syndrome OMIM:153400 lymphedema with distichiasis DOID:0111509 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Riley-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 Riley-Smith syndrome DOID:0050657 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 Ruvalcaba-Myhre-Smith syndrome DOID:0050657 @@ -1760,18 +1471,13 @@ MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym preaxial manibulofacial dysostosis DOID:5768 Nager acrofacial dysostosis DOID:5768 preaxial manibulofacial dysostosis DOID:5768 MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym AFD DOID:5768 Nager acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5768 AFD DOID:5768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 1 TREACHER COLLINS syndrome 1 Treacher Collins syndrome 1 DOID:0080789 Treacher Collins syndrome 1 OMIM:154500, MONDO:Lexical TREACHER COLLINS syndrome 1 DOID:0080789 -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome DOID:2908 Treacher Collins syndrome OMIM:154500 Treacher Collins syndrome DOID:2908 -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis DOID:2908 Treacher Collins syndrome OMIM:154500 mandibulofacial dysostosis DOID:2908 MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym oio:hasRelatedSynonym abnormal innervation syndrome of eyelid DOID:560 jaw-winking syndrome ICD9CM:374.43, DOID:560 abnormal innervation syndrome of eyelid DOID:560 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 Marshall syndrome GARD:0006984 deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS DOID:0111510 Marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 MRSHS DOID:0111510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa OMIM:154800 urticaria pigmentosa DOID:12309 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma DOID:3973 medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 medullary thyroid carcinoma DOID:3973 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym infratentorial primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 infratentorial primitive neuroectodermal tumor DOID:0050902 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym localized primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 localized primitive neuroectodermal tumor DOID:0050902 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C5398, DOID:0050902 CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 CPNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity DOID:3873 desmoplastic/nodular medulloblastoma OMIM:155255 medulloblastoma with extensive nodularity DOID:3873 MONDO:0007972 Meniere disease oio:hasExactSynonym oio:hasRelatedSynonym Meniere's disease DOID:9849 Meniere's disease DOID:9849 Meniere's disease DOID:9849 MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 autosomal dominant intellectual developmental disorder 1 DOID:0070031 autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS metachondromatosis DOID:0111512 metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS DOID:0111512 @@ -1782,18 +1488,11 @@ MONDO:0007988 autosomal dominant primary microcephaly oio:hasExactSynonym oio:ha MONDO:0008016 trismus-pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA7 DOID:0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:158300, MONDO:Lexical DA7 DOID:0111603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome DOID:0050465 Muir-Torre syndrome OMIM:158320 MUIR-Torre syndrome DOID:0050465 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 DOID:0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 DOID:0111192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy GARD:0009941, OMIM:158900, MESH:C536391 Landouzy-Dejerine muscular dystrophy DOID:11727 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy DOID:11727 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 DOID:0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 FSHD2 DOID:0111193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym MST Mst MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159595 MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym oio:hasRelatedSynonym myoclonic dystonia DOID:0090033 myoclonic dystonia OMIM:159900 myoclonic dystonia DOID:0090033 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy MONDO:Lexical, OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMAPME DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159950, MONDO:Lexical SMAPME DOID:0111527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy PMID:24664454, PMID:22918376 myosin storage myopathy DOID:0111267 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym childhood type dermatomyositis DOID:14203 childhood type dermatomyositis DOID:14203 childhood type dermatomyositis DOID:14203 -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis DOID:633 myositis OMIM:160750 myositis DOID:633 -MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Thomsen and Becker disease DOID:2106 myotonia congenita Orphanet:614 Thomsen and Becker disease DOID:2106 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI syndrome DOID:0111528 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome DOID:0111528 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nfj syndrome Nfj syndrome NFJ syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 Nfj syndrome DOID:0111528 @@ -1812,8 +1511,6 @@ MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelated MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid Nevus phakomatosis organoid Nevus phakomatosis organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome OMIM:163200 organoid Nevus phakomatosis DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome GARD:0010291 organoid nevus phakomatosis DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym JNP DOID:0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010291 JNP DOID:0111530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome DOID:3490 Noonan syndrome OMIM:163950 Noonan syndrome DOID:3490 -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008123 autosomal dominant omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 2 DOID:0080845 omodysplasia 2 MONDO:Lexical, OMIM:164745 omodysplasia 2 DOID:0080845 MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 3 with cataract DOID:0111433 optic atrophy 3 GARD:0010203 optic atrophy 3 with cataract DOID:0111433 MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym OPA3 DOID:0111433 optic atrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:165300 OPA3 DOID:0111433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1853,23 +1550,19 @@ MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:ha MONDO:0008196 parastremmatic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Parastremmatic dysplasia Parastremmatic dysplasia parastremmatic dysplasia DOID:0111539 parastremmatic dwarfism GARD:0004222 Parastremmatic dysplasia DOID:0111539 MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Parkinson's disease 1 DOID:0060367 Parkinson's disease 1 DOID:0060367 autosomal dominant Parkinson's disease 1 DOID:0060367 MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome DOID:0060563 Char syndrome OMIM:169100 CHAR syndrome DOID:0060563 -MONDO:0008210 patterned macular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym patterned dystrophy of retinal pigment epithelium DOID:0060863 patterned macular dystrophy OMIM:169150 patterned dystrophy of retinal pigment epithelium DOID:0060863 MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Imidodipeptidase deficiency Imidodipeptidase deficiency imidodipeptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 Imidodipeptidase deficiency DOID:0111540 MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Peptidase deficiency Peptidase deficiency peptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 Peptidase deficiency DOID:0111540 MONDO:0008223 hypokalemic periodic paralysis oio:hasExactSynonym oio:hasNarrowSynonym periodic paralysis I periodic paralysis I Periodic paralysis I DOID:14452 hypokalemic periodic paralysis DOID:14452 periodic paralysis I DOID:14452 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary thyroid carcinoma, familial medullary THYROID CARCINOMA, FAMILIAL MEDULLARY DOID:0050547 familial medullary thyroid carcinoma OMIM:171400 thyroid carcinoma, familial medullary DOID:0050547 MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease DOID:11870 Pick's disease DOID:11870 Pick's disease DOID:11870 MONDO:0008246 pigmented paravenous retinochoroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym pigmented paravenous chorioretinal atrophy DOID:0111541 pigmented paravenous chorioretinal atrophy MONDO:Lexical, OMIM:172870 pigmented paravenous chorioretinal atrophy DOID:0111541 MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym primary spontaneous pneumothorax DOID:0080218 primary spontaneous pneumothorax GARD:0004997, DOID:0080218 primary spontaneous pneumothorax DOID:0080218 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome DOID:0060472 Kindler syndrome OMIM:173650 KINDLER syndrome DOID:0060472 -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease DOID:0050770 polycystic liver disease MONDO:Lexical, OMIM:174050 polycystic liver disease DOID:0050770 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with median cleft of upper lip DOID:0060375 orofaciodigital syndrome V OMIM:174300 polydactyly, postaxial, with Median cleft of upper lip DOID:0060375 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease DOID:0111542 familial expansile osteolysis OMIM:174810 Mccabe disease DOID:0111542 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym FEO DOID:0111542 familial expansile osteolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174810, MONDO:Lexical FEO DOID:0111542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome DOID:0050787 juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 juvenile polyposis syndrome DOID:0050787 MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 Cronkhite-Canada syndrome OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type II DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008301 Guttmacher syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 Guttmacher syndrome GARD:0004470 autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 MONDO:0008302 central precocious puberty 1 oio:hasExactSynonym oio:hasRelatedSynonym CPPB1 DOID:0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176400, MONDO:Lexical CPPB1 DOID:0112310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome DOID:0111546 Currarino syndrome OMIM:176450 CURRARINO syndrome DOID:0111546 @@ -1888,7 +1581,6 @@ MONDO:0008334 psoriasis 1, susceptibility to oio:hasExactSynonym oio:hasRelatedS MONDO:0008346 pulmonary hemosiderosis oio:hasExactSynonym oio:hasRelatedSynonym siderosis DOID:10328 siderosis DOID:10328 siderosis DOID:10328 MONDO:0008373 retinal arterial tortuosity oio:hasExactSynonym oio:hasRelatedSynonym RATOR DOID:0111547 retinal arterial tortuosity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180000, MONDO:Lexical RATOR DOID:0111547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 DOID:0081024 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 retinal cone dystrophy 1 DOID:0081024 -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa DOID:10584 retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa DOID:10584 MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB DOID:768 retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 RB DOID:768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasBroadSynonym atrophic arthritis atrophic arthritis atrophic Arthritis DOID:7148 rheumatoid arthritis NCIT:C27206, DOID:7148 atrophic arthritis DOID:7148 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea ring dermoid of cornea DOID:0111548 ring dermoid of cornea OMIM:180550 RING dermoid of cornea DOID:0111548 @@ -1908,9 +1600,6 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis type 13 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0060204 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:183090, DOID:0060204 amyotrophic lateral sclerosis 13 DOID:0060204 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym ALS13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060204, OMIM:183090 ALS13 DOID:0060204 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy OMIM:183090 Wadia-swami syndrome DOID:14784 -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand deformity DOID:0090020 split hand-foot malformation OMIM:183600 split-hand deformity DOID:0090020 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia DOID:0112295 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism arthrogryposis skeletal maturation advanced Dysmorphism arthrogryposis skeletal maturation advanced dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier Kozlowski skeletal dysplasia DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Jequier Kozlowski skeletal dysplasia DOID:0111554 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier-Kozlowski syndrome DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Jequier-Kozlowski syndrome DOID:0111554 @@ -1922,7 +1611,6 @@ MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExact MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym SMDCF DOID:0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184255 SMDCF DOID:0112297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex steatocystoma multiplex DOID:0111556 steatocystoma multiplex OMIM:184500 STEATOCYSTOMA multiplex DOID:0111556 MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sebaceous cysts DOID:0111556 steatocystoma multiplex GARD:0005003 multiple sebaceous cysts DOID:0111556 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS DOID:0111382 ischiocoxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS DOID:0111382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 STIFF-PERSON syndrome DOID:13366 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome Stiff-man syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 Stiff-Man syndrome DOID:13366 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome stiff skin syndrome DOID:0111561 stiff skin syndrome OMIM:184900 STIFF skin syndrome DOID:0111561 @@ -1941,9 +1629,7 @@ MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym Haas t MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym SDTY4 DOID:0111818 syndactyly type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:186200 SDTY4 DOID:0111818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 syndactyly type 5 GARD:0005089 syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym SDTY5 DOID:0111819 syndactyly type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:186300 SDTY5 DOID:0111819 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica DOID:853 polymyalgia rheumatica OMIM:187360 polymyalgia rheumatica DOID:853 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT tetralogy of Fallot DOID:6419 tetralogy of Fallot OMIM:187500 tetralogy of FALLOT DOID:6419 -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization Orphanet:3002 immune thrombocytopenia DOID:1587 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura DOID:8924 autoimmune thrombocytopenic purpura OMIM:188030 immune thrombocytopenic purpura DOID:8924 MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to factor 2 defect DOID:0111907 thrombophilia due to thrombin defect OMIM:188050 thrombophilia due to factor 2 defect DOID:0111907 MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym THPH1 DOID:0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188050 THPH1 DOID:0111907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1954,17 +1640,13 @@ MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSy MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to activated protein C resistance DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 thrombophilia due to ACTIVATED PROTEIN C resistance DOID:0111902 MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of activated protein C cofactor DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 thrombophilia due to deficiency of Activated Protein C cofactor DOID:0111902 MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym THPH2 DOID:0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188055 THPH2 DOID:0111902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 Shprintzen syndrome DOID:12583 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 velocardiofacial syndrome DOID:12583 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym absence of tibia with polydactyly DOID:0111564 hypoplastic or aplastic tibia with polydactyly GARD:0008309 absence of tibia with polydactyly DOID:0111564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 hypoplastic or aplastic tibia with polydactyly Orphanet:988 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 MONDO:0008575 nicotine dependence oio:hasExactSynonym oio:hasRelatedSynonym tobacco use disorder DOID:0050742 nicotine dependence DOID:0050742, MESH:D014029 tobacco use disorder DOID:0050742 -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 toxaemia of pregnancy DOID:10591 MONDO:0008590 tremor, hereditary essential, 1 oio:hasExactSynonym oio:hasRelatedSynonym ETM1 DOID:0111428 essential tremor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190300, MONDO:Lexical ETM1 DOID:0111428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008596 trichorhinophalangeal syndrome type I oio:hasRelatedSynonym oio:hasExactSynonym trichorhinophalangeal dysplasia type I trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I DOID:14743 trichorhinophalangeal syndrome type I MTH:NOCODE, DOID:14743 trichorhinophalangeal dysplasia type I DOID:14743 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym complete trisomy 21 syndrome complete trisomy 21 syndrome Complete trisomy 21 syndrome DOID:14250 Down syndrome DOID:14250 complete trisomy 21 syndrome DOID:14250 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome DOID:14250 Down syndrome NCIT:C2993, DOID:14250 trisomy 21 syndrome DOID:14250 -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberose sclerosis tuberose sclerosis Tuberose sclerosis DOID:13515 tuberous sclerosis OMIM:191100 tuberose sclerosis DOID:13515 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome DOID:0050854 Muckle-Wells syndrome OMIM:191900 MUCKLE-Wells syndrome DOID:0050854 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS DOID:0050854 Muckle-Wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS DOID:0050854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices DOID:799 varicose veins Wikipedia:Varices, DOID:799 varices DOID:799 @@ -1983,20 +1665,14 @@ MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRe MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVD DOID:0111570 snowflake vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193230, MONDO:Lexical SVD DOID:0111570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008673 acrofacial dysostosis, Weyers type oio:hasExactSynonym oio:hasRelatedSynonym WAD wad WAD DOID:0111571 Weyers acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193530, MONDO:Lexical WAD DOID:0111571 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA2A DOID:0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193700, MONDO:Lexical DA2A DOID:0111605 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym White sponge Nevus of Cannon White sponge Nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus OMIM:193900 White sponge Nevus of Cannon DOID:0050448 MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym WHITE sponge NEVUS 1 WHITE sponge NEVUS 1 white sponge nevus 1 DOID:0081287 white sponge nevus 1 OMIM:193900 WHITE sponge NEVUS 1 DOID:0081287 MONDO:0008678 Williams syndrome oio:hasExactSynonym oio:hasRelatedSynonym WBS DOID:1928 Williams-Beuren syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194050 WBS DOID:1928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008681 WAGR syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P13 deletion syndrome chromosome 11P13 deletion syndrome chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome OMIM:194072 chromosome 11P13 deletion syndrome DOID:14515 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 4P16.3 deletion syndrome chromosome 4P16.3 deletion syndrome chromosome 4p16.3 deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome OMIM:194190 chromosome 4P16.3 deletion syndrome DOID:0050460 -MONDO:0008686 isolated familial wooly hair disorder oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194300 ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym dehydrated hereditary stomatocytosis DOID:0111575 dehydrated hereditary stomatocytosis OMIM:194380 dehydrated hereditary stomatocytosis DOID:0111575 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DOID:0111576 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema DOID:0111576 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Edinburgh pseudohyperkalemia Edinburgh pseudohyperkalemia edinburgh DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 pseudohyperkalemia Edinburgh DOID:0111576 -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis DOID:0050765 neuroacanthocytosis OMIM:200150 neuroacanthocytosis DOID:0050765 MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym choreaacanthocytosis DOID:0050766 choreaacanthocytosis DOID:0050766 choreaacanthocytosis DOID:0050766 -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis OMIM:200610 hypochondrogenesis DOID:0080044 -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis NCIT:C3816 hypochondrogenesis DOID:0080044 MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasNarrowSynonym factor I deficiency factor I deficiency Factor I deficiency DOID:2236 congenital afibrinogenemia DOID:2236 factor I deficiency DOID:2236 MONDO:0008740 agnathia-otocephaly complex oio:hasExactSynonym oio:hasRelatedSynonym Dysgnathia Complex agnathia-holoprosencephaly Dysgnathia Complex agnathia-holoprosencephaly dysgnathia complex agnathia-holoprosencephaly DOID:0060341 agnathia-otocephaly complex OMIM:202650 Dysgnathia Complex agnathia-holoprosencephaly DOID:0060341 MONDO:0008745 oculocutaneous albinism type 1A oio:hasExactSynonym oio:hasRelatedSynonym oculocutaneous albinism type IA DOID:0070094 oculocutaneous albinism type IA DOID:0070094 oculocutaneous albinism type IA DOID:0070094 @@ -2006,7 +1682,6 @@ MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedS MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-ketoglutarate dehydrogenase deficiency ALPHA-ketoglutarate dehydrogenase deficiency alpha-ketoglutarate dehydrogenase deficiency DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 ALPHA-ketoglutarate dehydrogenase deficiency DOID:0081326 MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym Oxoglutaric aciduria DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 Oxoglutaric aciduria DOID:0081326 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency DOID:14723 beta-ketothiolase deficiency OMIM:203750 mitochondrial acetoacetyl-Coa thiolase deficiency DOID:14723 -MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA DOID:14791 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 LCA DOID:14791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten disease DOID:0110731 neuronal ceroid lipofuscinosis 3 OMIM:204200 batten disease DOID:0110731 MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia oio:hasExactSynonym oio:hasRelatedSynonym ALS-dementia Complex ALS-dementia Complex ALS-dementia complex DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia OMIM:205200 ALS-dementia Complex DOID:0110067 MONDO:0008798 nonsyndromic congenital nail disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym anonychia congenita DOID:0080082 nonsyndromic congenital nail disorder 4 DOID:0050643 anonychia congenita DOID:0080082 @@ -2020,13 +1695,10 @@ MONDO:0008803 Antley-Bixler syndrome oio:hasExactSynonym oio:hasRelatedSynonym A MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym C-II Anapolipoproteinemia C-II Anapolipoproteinemia C-II anapolipoproteinemia DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 C-II Anapolipoproteinemia DOID:0111418 MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1b DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 hyperlipoproteinemia, type 1B DOID:0111418 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency DOID:14755 argininosuccinic aciduria OMIM:207900 argininosuccinate lyase deficiency DOID:14755 -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome ARC syndrome DOID:0050763 ARC syndrome OMIM:208085 Arc syndrome DOID:0050763 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical ARCS1 DOID:0111353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome OMIM:208150 fetal akinesia sequence DOID:0111375 MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym foetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome http://purl.obolibrary.org/obo/OMO_0003005 foetal akinesia sequence DOID:0111375 -MONDO:0008831 asphyxiating thoracic dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Jeune syndrome DOID:0050592 asphyxiating thoracic dystrophy OMIM:208500 Jeune syndrome DOID:0050592 MONDO:0008834 asthma, nasal polyps, and aspirin intolerance oio:hasExactSynonym oio:hasRelatedSynonym Asa triad Asa triad ASA triad DOID:0111579 asthma, nasal polyps, and aspirin intolerance OMIM:208550 Asa triad DOID:0111579 -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome DOID:0060549 Barber-Say syndrome OMIM:209885 BARBER-SAY syndrome DOID:0060549 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym bare lymphocyte syndrome type II DOID:5812 MHC class II deficiency DOID:5812 bare lymphocyte syndrome type II DOID:5812 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym BLSII DOID:5812 MHC class II deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5812 BLSII DOID:5812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2034,15 +1706,8 @@ MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 Behr syndrome GARD:0000849 optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0000849 optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 BEHRS DOID:0111580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-Methylcrotonyl-Coa carboxylase deficiency 3-Methylcrotonyl-Coa carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 3-Methylcrotonyl-Coa carboxylase deficiency DOID:0050710 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-methylcrotonylglycinuria 3-methylcrotonylglycinuria 3-Methylcrotonylglycinuria DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 3-methylcrotonylglycinuria DOID:0050710 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bmcc deficiency Bmcc deficiency BMCC deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 Bmcc deficiency DOID:0050710 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 3-METHYLCROTONYL-CoA carboxylase 1 deficiency DOID:0080579 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 3-METHYLCROTONYL-CoA carboxylase 2 deficiency DOID:0080580 -MONDO:0008869 Seckel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism Bird-headed dwarfism bird-headed dwarfism DOID:0050569 Seckel syndrome OMIM:210600 Bird-headed dwarfism DOID:0050569 -MONDO:0008890 progressive bulbar palsy oio:hasExactSynonym oio:hasNarrowSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease OMIM:211500 Fazio-Londe disease DOID:0080632 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 OMIM:211530, MONDO:Lexical Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis DOID:0070221 progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis DOID:0070221 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification and distal joint calcification DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 arterial calcification and distal joint calcification DOID:0111582 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to CD73 deficiency DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 arterial calcification due to CD73 deficiency DOID:0111582 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of CD73 DOID:0111582 hereditary arterial and articular multiple calcification syndrome OMIM:211800 arterial calcification due to deficiency of Cd73 DOID:0111582 @@ -2067,22 +1732,16 @@ MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:ha MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym LHRH deficiency and ataxia DOID:0111587 Gordon Holmes syndrome OMIM:212840 LHRH deficiency and ataxia DOID:0111587 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym GDHS DOID:0111587 Gordon Holmes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:212840 GDHS DOID:0111587 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008939 isolated cerebellar hypoplasia/agenesis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia DOID:0070338 cerebellar hypoplasia OMIM:213000 cerebellar hypoplasia DOID:0070338 -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome DOID:0050777 Joubert syndrome OMIM:213300 Joubert syndrome DOID:0050777 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cerebellooculorenal syndrome 1 Cerebellooculorenal syndrome 1 cerebellooculorenal syndrome 1 DOID:0110980 Joubert syndrome 1 OMIM:213300 Cerebellooculorenal syndrome 1 DOID:0110980 MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym oio:hasNarrowSynonym Fahr disease DOID:0060230 basal ganglia calcification http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060230 Fahr disease DOID:0060230 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) oio:hasExactSynonym oio:hasRelatedSynonym Cerebrohepatorenal syndrome Cerebrohepatorenal syndrome cerebrohepatorenal syndrome DOID:905 Zellweger syndrome OMIM:214100 Cerebrohepatorenal syndrome DOID:905 -MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym CLD DOID:0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010001 CLD DOID:0111646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency DOID:0060602 alpha-methylacyl-CoA racemase deficiency Orphanet:79095 AMACR deficiency DOID:0060602 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid in bile trihydroxycoprostanic acid in bile DOID:0111068 congenital bile acid synthesis defect 4 OMIM:214950 Trihydroxycoprostanic acid in bile DOID:0111068 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 DOID:0110851 rhizomelic chondrodysplasia punctata type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical RCDP1 DOID:0110851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata OMIM:215100 chondrodysplasia punctata, rhizomelic form DOID:2580 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Greenberg skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 Greenberg skeletal dysplasia DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 Greenberg dysplasia GARD:0008754 autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBGD DOID:0111588 Greenberg dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215140 GRBGD DOID:0111588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasNarrowSynonym chondrosarcoma of bone DOID:3371 chondrosarcoma DOID:3371 chondrosarcoma of bone DOID:3371 MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym primary chondrosarcoma of the bone DOID:3371 chondrosarcoma DOID:3371 primary chondrosarcoma of the bone DOID:3371 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia DOID:9273 citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia DOID:9273 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome OMIM:216340 cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia DOID:0060589 MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypotonia, obesity, and prominent incisors hypotonia, obesity, and prominent incisors Hypotonia, obesity, and prominent incisors DOID:0111590 Cohen syndrome OMIM:216550 hypotonia, obesity, and prominent incisors DOID:0111590 MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym pepper syndrome pepper syndrome Pepper syndrome DOID:0111590 Cohen syndrome OMIM:216550 pepper syndrome DOID:0111590 @@ -2094,7 +1753,6 @@ MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasE MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHDTHP DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217085, MONDO:Lexical CHDTHP DOID:0111591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy and perceptive deafness DOID:0111620 corneal dystrophy-perceptive deafness syndrome MONDO:Lexical, OMIM:217400 corneal dystrophy and perceptive deafness DOID:0111620 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym CDPD1 Cdpd1 CDPD1 DOID:0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217400 CDPD1 DOID:0111620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy DOID:0060443 corneal endothelial dystrophy OMIM:217700, MESH:C536439 corneal endothelial dystrophy DOID:0060443 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym cortisol 11-Beta-ketoreductase deficiency cortisol 11-Beta-ketoreductase deficiency cortisol 11-beta-ketoreductase deficiency DOID:4367 apparent mineralocorticoid excess syndrome OMIM:218030 cortisol 11-Beta-ketoreductase deficiency DOID:4367 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism, corpus callosum agenesis and colobomas Dysmorphism, corpus callosum agenesis and colobomas dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 Temtamy syndrome GARD:0005688 Dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome DOID:0111621 Temtamy syndrome OMIM:218340 TEMTAMY syndrome DOID:0111621 @@ -2114,14 +1772,10 @@ MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:h MONDO:0009052 cutis laxa, autosomal recessive, type 1A oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IA DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym De Barsy syndrome a De Barsy syndrome a De Barsy syndrome A DOID:0070132 autosomal recessive cutis laxa type IIIA OMIM:219150 De Barsy syndrome a DOID:0070132 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIIA DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A DOID:0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical ARCL2A DOID:0070134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type II classic type DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 MONDO:0009063 ventriculomegaly-cystic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym ventriculomegaly with cystic kidney disease DOID:0111625 ventriculomegaly - cystic kidney disease OMIM:219730, MONDO:Lexical ventriculomegaly with cystic kidney disease DOID:0111625 -MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy Orphanet:254905 isolated cytochrome C oxidase deficiency DOID:0081377 MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-glycericacidemia DOID:0111626 D-glyceric aciduria GARD:0000234 D-glycericacidemia DOID:0111626 MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym non ketotic hyperglycinemia syndrome DOID:0111626 D-glyceric aciduria GARD:0000234 non ketotic hyperglycinemia syndrome DOID:0111626 -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia DOID:0060565 Ritscher-Schinzel syndrome OMIM:220210 Craniocerebellocardiac dysplasia DOID:0060565 -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome DOID:0060565 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 Ritscher-Schinzel syndrome DOID:0060565 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A DOID:0110475 autosomal recessive deafness 1A DOID:0110475 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A OMIM:220290 autosomal recessive nonsyndromic deafness 1A DOID:0110475 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym DFNB1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:220290, DOID:0110475 DFNB1A DOID:0110475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2130,9 +1784,7 @@ MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oi MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness and myopia syndrome DOID:0111628 high myopia-sensorineural deafness syndrome GARD:0012844 deafness and myopia syndrome DOID:0111628 MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym DFNMYP DOID:0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:221200 DFNMYP DOID:0111628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WOLFRAM syndrome 1 WOLFRAM syndrome 1 Wolfram syndrome 1 DOID:0110629 Wolfram syndrome 1 OMIM:222300 WOLFRAM syndrome 1 DOID:0110629 -MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WFS Wfs WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222300 WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria DOID:0090144 Donnai-Barrow syndrome OMIM:222448 diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria DOID:0090144 -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance lysinuric protein intolerance DOID:0060439 lysinuric protein intolerance OMIM:222700 lysinuric PROTEIN intolerance DOID:0060439 MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect glutamate-aspartate transport defect DOID:0060650 dicarboxylic aminoaciduria OMIM:222730 glutamate-aspartate Transport defect DOID:0060650 MONDO:0009111 dihydropyrimidinuria oio:hasExactSynonym oio:hasRelatedSynonym Dph deficiency Dph deficiency DPH deficiency DOID:0111629 dihydropyrimidinase deficiency OMIM:222748 Dph deficiency DOID:0111629 @@ -2152,13 +1804,11 @@ MONDO:0009134 congenital dyserythropoietic anemia type 2 oio:hasExactSynonym oio MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDA Ia DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120 CDA Ia DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDAN1A DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120, MONDO:Lexical CDAN1A DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive dyskeratosis congenita 1 DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome DOID:0060306 Meier-Gorlin syndrome OMIM:224690 Meier-Gorlin syndrome DOID:0060306 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-GORLIN syndrome 1 Meier-GORLIN syndrome 1 Meier-Gorlin syndrome 1 DOID:0080512 Meier-Gorlin syndrome 1 OMIM:224690 Meier-GORLIN syndrome 1 DOID:0080512 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome Schopf-Schulz-Passarge syndrome DOID:0111647 Schopf-Schulz-Passarge syndrome MONDO:Lexical, OMIM:224750 SCHOPF-Schulz-Passarge syndrome DOID:0111647 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B DOID:0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical ECTD10B DOID:0111665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym CLPED1 DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253 CLPED1 DOID:0060773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 7 DOID:0080400 orofacial cleft 7 OMIM:225060 orofacial cleft 7 DOID:0080400 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive isolated ectopia lentis 2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym oio:hasRelatedSynonym ectopia lentis with ectopia of pupil DOID:0111648 ectopia lentis with ectopia of pupil OMIM:225200 ectopia lentis with ectopia of pupil DOID:0111648 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 5 DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 @@ -2182,8 +1832,6 @@ MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency DOID:2222 factor X deficiency OMIM:227600 factor X deficiency DOID:2222 MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym FACC facc FACC DOID:0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227645 FACC DOID:0111087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym FAD2 Fad2 FAD2 DOID:0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227646 FAD2 DOID:0111083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia DOID:13636 Fanconi anemia OMIM:227650 Fanconi Anemia DOID:13636 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anaemia Fanconi Anaemia Fanconi anaemia DOID:13636 Fanconi anemia http://purl.obolibrary.org/obo/OMO_0003005 Fanconi Anaemia DOID:13636 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease XI DOID:0070562 Fanconi-Bickel syndrome GARD:0002268 glycogen storage disease XI DOID:0070562 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type DOID:0070562 Fanconi-Bickel syndrome OMIM:227810 glycogenosis, Fanconi type DOID:0070562 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency N-laurylsphingosine deacylase deficiency DOID:0050464 Farber lipogranulomatosis OMIM:228000 N-Laurylsphingosine deacylase deficiency DOID:0050464 @@ -2197,12 +1845,10 @@ MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria FIGLU-uria DOID:0111679 glutamate formiminotransferase deficiency OMIM:229100 Figlu-Uria DOID:0111679 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminoglutamic acidemia DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 formiminoglutamic acidemia DOID:0111679 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency syndrome DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 formiminotransferase deficiency syndrome DOID:0111679 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 DOID:0080729 brittle cornea syndrome 2 DOID:14775 brittle cornea syndrome 2 DOID:0080729 MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 DOID:14775 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical brittle cornea syndrome 1 DOID:14775 MONDO:0009252 essential fructosuria oio:hasExactSynonym oio:hasRelatedSynonym hepatic fructokinase deficiency DOID:0111680 essential fructosuria OMIM:229800 hepatic fructokinase deficiency DOID:0111680 MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency DOID:0111458 galactose epimerase deficiency OMIM:230350 Gale deficiency DOID:0111458 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency DOID:0111459 classic galactosemia OMIM:230400 Galt deficiency DOID:0111459 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia DOID:9870 galactosemia OMIM:230400 galactosemia DOID:9870 MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GELEOPHYSIC dysplasia 1 GELEOPHYSIC dysplasia 1 geleophysic dysplasia 1 DOID:0111725 geleophysic dysplasia 1 OMIM:231050 GELEOPHYSIC dysplasia 1 DOID:0111725 MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD1 DOID:0111725 geleophysic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231050, MONDO:Lexical GPHYSD1 DOID:0111725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GERODERMA OSTEODYSPLASTICUM GERODERMA OSTEODYSPLASTICUM geroderma osteodysplasticum DOID:0111266 geroderma osteodysplasticum OMIM:231070, MONDO:Lexical GERODERMA OSTEODYSPLASTICUM DOID:0111266 @@ -2211,7 +1857,6 @@ MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym Walt Disney dwarfism DOID:0111266 geroderma osteodysplasticum OMIM:231070 Walt Disney dwarfism DOID:0111266 MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GO DOID:0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:231070 GO DOID:0111266 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia DOID:0112251 Ghosal hematodiaphyseal syndrome OMIM:231095 GHOSAL hematodiaphyseal dysplasia DOID:0112251 -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos DOID:11211 buphthalmos DOID:11211, OMIM:231300 buphthalmos DOID:11211 MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym AAAS DOID:0050602 triple-A syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231550, MONDO:Lexical AAAS DOID:0050602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009281 glutaryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym glutaric acidemia I DOID:0111254 glutaric acidemia I OMIM:231670 glutaric acidemia I DOID:0111254 @@ -2225,8 +1870,6 @@ MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 GGT deficiency DOID:0111257 MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT1 deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency GARD:0010099 GGT1 deficiency DOID:0111257 MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GTG deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 GTG deficiency DOID:0111257 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Von Gierke disease von Gierke disease DOID:0081329 glycogen storage disease I OMIM:232200 Von Gierke disease DOID:0081329 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 1 glycogen storage disease 1 Glycogen storage disease 1 DOID:0081329 glycogen storage disease I OMIM:232200 glycogen storage disease 1 DOID:0081329 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease Ia DOID:2749 glycogen storage disease Ia OMIM:232200, MONDO:Lexical glycogen storage disease Ia DOID:2749 MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 2 glycogen storage disease 2 Glycogen storage disease 2 DOID:2752 glycogen storage disease II OMIM:232300 glycogen storage disease 2 DOID:2752 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 3 glycogen storage disease 3 Glycogen storage disease 3 DOID:2748 glycogen storage disease III OMIM:232400 glycogen storage disease 3 DOID:2748 @@ -2260,11 +1903,8 @@ MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRe MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type DOID:0112255 homocystinuria-megaloblastic anemia cblE type OMIM:236270 vitamin B12-responsive homocystinuria, cblE type DOID:0112255 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE DOID:0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 HMAE DOID:0112255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARCH DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236500 MARCH DOID:0080327 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 hard syndrome DOID:0050560 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 OMIM:236670 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related DOID:0111237 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 MDDGA1 DOID:0111237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome DOID:0050779 hydrolethalus syndrome OMIM:genemap2, OMIM:236680 hydrolethalus syndrome DOID:0050779 MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 DOID:0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical HLS1 DOID:0111355 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kaufman McKusick syndrome DOID:0111255 McKusick-Kaufman syndrome GARD:0003427 Kaufman McKusick syndrome DOID:0111255 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome McKusick-Kaufman syndrome DOID:0111255 McKusick-Kaufman syndrome OMIM:236700 MCKUSICK-Kaufman syndrome DOID:0111255 @@ -2281,7 +1921,6 @@ MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency oio:ha MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome HHH syndrome DOID:0050720 ornithine translocase deficiency OMIM:238970 Hhh syndrome DOID:0050720 MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym SOST-related sclerosing bone dysplasia DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease van Buchem disease DOID:0080036 SOST-related sclerosing bone dysplasia OMIM:239100 VAN Buchem disease DOID:0080036 -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Mabry syndrome DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome OMIM:239300 Mabry syndrome DOID:0070431 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 OMIM:239300 glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS1 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:239300 HPMRS1 DOID:0070433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Whitaker syndrome DOID:0050167 autoimmune polyendocrine syndrome type 1 GTR:AN0156902 Whitaker syndrome DOID:0050167 @@ -2308,14 +1947,8 @@ MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynon MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 Baraitser-Winter syndrome 1 DOID:0081112 Baraitser-Winter syndrome 1 OMIM:243310 Baraitser-WINTER syndrome 1 DOID:0081112 MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency DOID:14753 isovaleric acidemia OMIM:243500 isovaleric acid Coa dehydrogenase deficiency DOID:14753 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome DOID:14694 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome DOID:14694 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome DOID:0050144 Kartagener syndrome OMIM:244400 Kartagener syndrome DOID:0050144 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis DOID:9563 bronchiectasis OMIM:244400 Polynesian bronchiectasis DOID:9563 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym Kaufman oculocerebrofacial syndrome DOID:0111456 Kaufman oculocerebrofacial syndrome OMIM:244450, MONDO:Lexical Kaufman oculocerebrofacial syndrome DOID:0111456 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym KCS Kcs KCS DOID:12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244460 KCS DOID:12895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide beta-galactosidase deficiency DOID:10587 Krabbe disease OMIM:245200 galactosylceramide Beta-galactosidase deficiency DOID:10587 -MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasBroadSynonym succinate-CoA ligase deficiency DOID:0080124 mitochondrial DNA depletion syndrome 5 ORCID:0000-0001-6330-7526, PMID:26475597, PMID:31240156 succinate-CoA ligase deficiency DOID:0080124 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome DOID:1930 Laurence-Moon syndrome OMIM:245800 Laurence-MOON syndrome DOID:1930 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym LNMS DOID:1930 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245800, MONDO:Lexical LNMS DOID:1930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency OMIM:246450 HMG-Coa lyase deficiency DOID:0070541 @@ -2327,11 +1960,8 @@ MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 familial lipase maturation factor 1 deficiency OMIM:246650 lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda mal de Meleda DOID:0060862 mal de Meleda OMIM:248300 MAL DE Meleda DOID:0060862 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MDM DOID:0060862 mal de Meleda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0000092, OMIM:248300 MDM DOID:0060862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia DOID:0081127 mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia DOID:0081127 MONDO:0009558 Treacher Collins syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 3 TREACHER COLLINS syndrome 3 Treacher Collins syndrome 3 DOID:0080791 Treacher Collins syndrome 3 OMIM:248390 TREACHER COLLINS syndrome 3 DOID:0080791 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency DOID:3633 beta-mannosidosis OMIM:248510 lysosomal Beta-mannosidase deficiency DOID:3633 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 Meckel syndrome DOID:0050778 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 Meckel-Gruber syndrome DOID:0050778 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 DOID:0070115 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anemia syndrome thiamine-responsive Anemia syndrome thiamine-responsive anemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome OMIM:249270 thiamine-responsive Anemia syndrome DOID:0090117 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anaemia syndrome thiamine-responsive Anaemia syndrome thiamine-responsive anaemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/OMO_0003005 thiamine-responsive Anaemia syndrome DOID:0090117 @@ -2363,10 +1993,8 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency type B DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis II alpha/beta DOID:0080070 mucolipidosis II alpha/beta OMIM:252500 mucolipidosis II alpha/beta DOID:0080070 MONDO:0009652 GNPTG-mucolipidosis oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III gamma DOID:0080678 mucolipidosis III gamma OMIM:252605 mucolipidosis III gamma DOID:0080678 -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency DOID:12801 mucopolysaccharidosis III OMIM:252900 heparan sulfate sulfatase deficiency DOID:12801 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym Mucopoly-saccharidosis type 3B DOID:0111394 mucopolysaccharidosis type IIIB GARD:0007072 Mucopoly-saccharidosis type 3B DOID:0111394 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB OMIM:252920 NAGLU deficiency DOID:0111394 -MONDO:0009656 mucopolysaccharidosis type 3B oio:hasNarrowSynonym oio:hasRelatedSynonym NAGLU deficiency NAGLU deficiency naglu deficiency DOID:12801 mucopolysaccharidosis III OMIM:252920 NAGLU deficiency DOID:12801 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 mucopolysaccharidosis type IIID OMIM:252940 N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym MPS IIID DOID:0111402 mucopolysaccharidosis type IIID http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007074 MPS IIID DOID:0111402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasBroadSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA OMIM:253000 Morquio A disease DOID:0111391 @@ -2374,8 +2002,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasRelatedSy MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym oio:hasRelatedSynonym MPS IVB DOID:0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003786 MPS IVB DOID:0111392 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis VI DOID:12800 mucopolysaccharidosis VI DOID:12800 mucopolysaccharidosis VI DOID:12800 MONDO:0009664 mulibrey nanism oio:hasExactSynonym oio:hasRelatedSynonym pericardial constriction and Growth failure pericardial constriction and Growth failure PERICARDIAL CONSTRICTION AND GROWTH FAILURE DOID:0050436 mulibrey nanism OMIM:253250 pericardial constriction and Growth failure DOID:0050436 -MONDO:0009665 biotinidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym biotin deficiency DOID:0050810 biotin deficiency GARD:0000894 biotin deficiency DOID:0050810 -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency NCIT:C98842 multiple carboxylase deficiency DOID:857 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 OMIM:253280 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA3 DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253280, MONDO:Lexical MDDGA3 DOID:0111236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile muscular atrophy DOID:13137 Werdnig-Hoffmann disease DOID:13137 infantile muscular atrophy DOID:13137 @@ -2384,22 +2010,11 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroad MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym muscular atrophy, spinal, Intermediate type muscular atrophy, spinal, Intermediate type MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE DOID:0050530 intermediate spinal muscular atrophy OMIM:253550 muscular atrophy, spinal, Intermediate type DOID:0050530 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy type II DOID:0050530 intermediate spinal muscular atrophy GARD:0004945 spinal muscular atrophy type II DOID:0050530 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym SMA II DOID:0050530 intermediate spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004945 SMA II DOID:0050530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich Scleroatonic muscular dystrophy Ullrich Scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich Scleroatonic muscular dystrophy DOID:0050558 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich congenital muscular dystrophy DOID:0050558 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich disease DOID:0050558 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 DOID:0070199 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 CMS1A DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2 Cms Ia2 CMS Ia2 DOID:0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254210 CMS Ia2 DOID:0110671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B DOID:0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 CMS1B DOID:0110662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis DOID:4971 myelofibrosis OMIM:254450 myelofibrosis DOID:4971 -MONDO:0009692 primary myelofibrosis oio:hasRelatedSynonym oio:hasExactSynonym aleukemic myelosis DOID:6004 aleukemic leukemia DOID:4971 aleukemic myelosis DOID:6004 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis OMIM:254500 Al amyloidosis DOID:0080933 -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy DOID:891 progressive myoclonus epilepsy OMIM:254800 progressive myoclonic epilepsy DOID:891 MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB DOID:0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 MSMB DOID:0111268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009709 myopathy, centronuclear, 2 oio:hasExactSynonym oio:hasRelatedSynonym CNM2 DOID:0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255200 CNM2 DOID:0111220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 DOID:0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 NPH1 DOID:0111112 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:256450 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 DOID:0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical HHF1 DOID:0070219 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis DOID:3343 glycoproteinosis DOID:3343 glycoproteinosis DOID:3343 MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis DOID:3343 glycoproteinosis DOID:3343 sialidosis DOID:3343 @@ -2407,11 +2022,9 @@ MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSyn MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 6 DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972, DOID:0080125 mitochondrial DNA depletion syndrome 6 DOID:0080125 MONDO:0009751 neuropathy, hereditary sensory, atypical oio:hasExactSynonym oio:hasRelatedSynonym atypical hereditary sensory neuropathy DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelin lipidosis DOID:14504 Niemann-Pick disease OMIM:257200 sphingomyelin lipidosis DOID:14504 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C1 DOID:0070113 Niemann-Pick disease type C1 DOID:0070113, GARD:0007207 Niemann-Pick disease type C1 DOID:0070113 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym NPC1 DOID:0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257220, MONDO:Lexical NPC1 DOID:0070113 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MOSAIC variegated aneuploidy syndrome 1 DOID:0080141 -MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym oculopalatoskeletal syndrome DOID:0060225 3MC syndrome OMIM:257920 oculopalatoskeletal syndrome DOID:0060225 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 Oligochiasmatic infertility DOID:0070188 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligosynaptic infertility Oligosynaptic infertility oligosynaptic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 Oligosynaptic infertility DOID:0070188 MONDO:0009779 autosomal recessive omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 1 DOID:0080844 omodysplasia 1 OMIM:258315, MONDO:Lexical omodysplasia 1 DOID:0080844 @@ -2427,23 +2040,13 @@ MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 Parkinson's disease 15 DOID:0060372 autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm DOID:1793 pancreatic cancer DOID:1793 pancreas neoplasm DOID:1793 MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 Shwachman-Diamond syndrome DOID:0080023 Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP DOID:0112308 central precocious puberty http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP DOID:0112308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasNarrowSynonym childhood choroid plexus papilloma DOID:2626 choroid plexus papilloma DOID:2626 childhood choroid plexus papilloma DOID:2626 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma DOID:5648 choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma DOID:5648 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-Xylulosuria L-Xylulosuria L-xylulosuria DOID:0111258 pentosuria OMIM:260800 L-Xylulosuria DOID:0111258 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-xylulose reductase deficiency DOID:0111258 pentosuria OMIM:260800 L-xylulose reductase deficiency DOID:0111258 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym PNTSU DOID:0111258 pentosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260800 PNTSU DOID:0111258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJS DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:262000 BJS DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTD DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:262000 PTD DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital IGHD DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital isolated GH deficiency DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital isolated growth hormone deficiency DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 non-acquired isolated growth hormone deficiency DOID:0060870 MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Illig-type Growth hormone deficiency Illig-type Growth hormone deficiency Illig-type growth hormone deficiency DOID:0060873 isolated growth hormone deficiency type IA OMIM:262400 Illig-type Growth hormone deficiency DOID:0060873 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 DOID:0080212 polycystic kidney disease 4 DOID:0110861 polycystic kidney and hepatic disease 1 DOID:0080212 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type i DOID:0080212 polycystic kidney disease 4 DOID:0110861 polycystic kidney disease, infantile, type I DOID:0080212 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease DOID:0110861 polycystic kidney and hepatic disease 1 DOID:898 -MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym oio:hasRelatedSynonym primary polycythemia DOID:10780 primary polycythemia GARD:0007422 primary polycythemia DOID:10780 MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym ECYT2 DOID:0060474 familial erythrocytosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263400, MONDO:Lexical ECYT2 DOID:0060474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 BH4-deficient hyperphenylalaninemia D GARD:0002843 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 MONDO:0009910 Wiedemann-Rautenstrauch syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, neonatal progeroid syndrome, neonatal PROGEROID SYNDROME, NEONATAL DOID:0081333 Wiedemann-Rautenstrauch syndrome OMIM:264090 progeroid syndrome, neonatal DOID:0081333 @@ -2457,12 +2060,8 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation persistent foetal circulation Persistent foetal circulation DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 persistent foetal circulation DOID:13042 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation syndrome DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 persistent foetal circulation syndrome DOID:13042 MONDO:0009943 Pyle disease oio:hasExactSynonym oio:hasBroadSynonym metaphyseal dysplasia DOID:0080019 metaphyseal dysplasia MONDO:0000841, OMIM:265900 metaphyseal dysplasia DOID:0080019 -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 AASA dehydrogenase deficiency DOID:0070519 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency DOID:0080699 glutathione synthetase deficiency OMIM:266130, MONDO:Lexical glutathione synthetase deficiency DOID:0080699 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym Pk deficiency Pk deficiency PK deficiency DOID:0111077 pyruvate kinase deficiency of red cells OMIM:266200 Pk deficiency DOID:0111077 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIc DOID:0070255 congenital disorder of glycosylation type IIc GARD:0004634 congenital disorder of glycosylation type IIC DOID:0070255 -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym ulcerative colitis DOID:8577 ulcerative colitis OMIM:266600 ulcerative colitis DOID:8577 -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Crohn disease DOID:8778 Crohn's disease OMIM:266600 Crohn disease DOID:8778 MONDO:0009966 NPHP3-related Meckel-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 7 DOID:0070121 Meckel syndrome 7 GARD:0004665 Meckel syndrome 7 DOID:0070121 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym HLH1 Hlh1 HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:267700 HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2475,13 +2074,10 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS DO MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel Giedion syndrome DOID:0070509 Schinzel Giedion syndrome GARD:0000117 Schinzel Giedion syndrome DOID:0070509 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome DOID:0070509 Schinzel Giedion syndrome OMIM:269150 Schinzel-Giedion midface retraction syndrome DOID:0070509 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS DOID:0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS DOID:0070509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal opacification and other ocular anomalies DOID:0060648 anterior segment dysgenesis DOID:0060648 corneal opacification and other ocular anomalies DOID:0060648 -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym sclerocornea with Other ocular anomalies sclerocornea with Other ocular anomalies sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis OMIM:269400 sclerocornea with Other ocular anomalies DOID:0060648 MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis DOID:4423 sea-blue histiocytosis OMIM:269600 sea-blue histiocytosis DOID:4423 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 48 DOID:0111943 immunodeficiency 48 OMIM:269840 immunodeficiency 48 DOID:0111943 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD48 DOID:0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269840 IMD48 DOID:0111943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010026 SHORT syndrome oio:hasExactSynonym oio:hasRelatedSynonym short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 SHORT syndrome OMIM:269880 short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus DOID:0050545 visceral heterotaxy NCIT:C87121 situs ambiguus DOID:0050545 MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjogren's syndrome DOID:12894 Sjogren's syndrome DOID:12894 Sjogren's syndrome DOID:12894 MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym FALDH deficiency DOID:14501 Sjogren-Larsson syndrome OMIM:270200 FALDH deficiency DOID:14501 MONDO:0010044 hereditary spastic paraplegia 15 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia and retinal Degeneration spastic paraplegia and retinal Degeneration spastic paraplegia and retinal degeneration DOID:0110768 hereditary spastic paraplegia 15 OMIM:270700 spastic paraplegia and retinal Degeneration DOID:0110768 @@ -2491,7 +2087,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 autosomal recessive spinocerebellar ataxia 3 Orphanet:95433 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia sponastrime dysplasia DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type OMIM:271510 Sponastrime dysplasia DOID:5684 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability OMIM:271620 spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasBroadSynonym SEMDJL DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271640 SEMDJL DOID:0112197 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 OMIM:271640 spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures DOID:0112198 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED short limb-hand type DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 SMED short limb-hand type DOID:0112196 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED type 2 DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 SMED type 2 DOID:0112196 @@ -2506,7 +2101,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Aspa def MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease CANAVAN-VAN BOGAERT-BERTRAND DISEASE DOID:3613 Canavan disease OMIM:271900 Canavan-Van Bogaert-Bertrand disease DOID:3613 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system DOID:3613 Canavan disease OMIM:271900 spongy Degeneration of central nervous system DOID:3613 MONDO:0010087 Sugarman brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly with Major proximal phalangeal shortening brachydactyly with Major proximal phalangeal shortening brachydactyly with major proximal phalangeal shortening DOID:0110979 Sugarman brachydactyly OMIM:272150 brachydactyly with Major proximal phalangeal shortening DOID:0110979 -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Sohar-Crisponi syndrome DOID:0060294 cold-induced sweating syndrome OMIM:272430 Sohar-Crisponi syndrome DOID:0060294 MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cold-induced sweating syndrome 1 DOID:0080329 cold-induced sweating syndrome 1 OMIM:272430, MONDO:Lexical cold-induced sweating syndrome 1 DOID:0080329 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome DOID:0112194 Filippi syndrome OMIM:272440 FILIPPI syndrome DOID:0112194 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym Scott craniodigital syndrome with mental retardation DOID:0112194 Filippi syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:272440 Scott craniodigital syndrome with mental retardation DOID:0112194 @@ -2514,12 +2108,8 @@ MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, type 1 DOID:3320 Tay-Sachs disease GARD:0007737 GM2 gangliosidosis, type 1 DOID:3320 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease DOID:3320 Tay-Sachs disease OMIM:272800 TAY-Sachs disease DOID:3320 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym hexosaminidase a deficiency hexosaminidase a deficiency hexosaminidase A deficiency DOID:3320 Tay-Sachs disease OMIM:272800 hexosaminidase a deficiency DOID:3320 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor DOID:1911 endodermal sinus tumor OMIM:273300 endodermal sinus tumor DOID:1911 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 endodermal sinus tumour DOID:1911 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma DOID:4440 seminoma OMIM:273300 seminoma DOID:4440 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer DOID:5557 testicular germ cell cancer DOID:5557 MONDO:0010108 testicular germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym testicular germ cell neoplasm DOID:5557 testicular germ cell cancer NCIT:C8591, DOID:5557 testicular germ cell neoplasm DOID:5557 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma DOID:5834 spermatocytoma OMIM:273300 spermatocytic seminoma DOID:5834 MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETAMS DOID:0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:273395 TETAMS DOID:0112191 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym iodide peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 iodide peroxidase deficiency DOID:0112186 MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 thyroid peroxidase deficiency DOID:0112186 @@ -2538,26 +2128,14 @@ MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynony MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynonym AARRS DOID:0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009212 AARRS DOID:0112181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency DOID:0112180 urocanase deficiency OMIM:276880, MONDO:Lexical urocanase deficiency DOID:0112180 MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym UROCD DOID:0112180 urocanase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:276880, MONDO:Lexical UROCD DOID:0112180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100, OMIM:277000 MRKH syndrome DOID:0112177 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome OMIM:277000 Mayer-Rokitansky-KUSTER-Hauser syndrome DOID:0112177 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100 Rokitansky syndrome DOID:0112177 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly cleft lip palate psychomotor retardation polydactyly cleft lip palate psychomotor retardation Polydactyly cleft lip palate psychomotor retardation DOID:0060376 Joubert syndrome with orofaciodigital defect GARD:0004412 polydactyly cleft lip palate psychomotor retardation DOID:0060376 -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral absence of vas deferens DOID:0111862 congenital bilateral absence of vas deferens OMIM:genemap2, OMIM:277180 congenital bilateral absence of vas deferens DOID:0111862 -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical CBAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym MAHCF DOID:0050717 methylmalonic aciduria and homocystinuria type cblF http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277380 MAHCF DOID:0050717 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym MAHCC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277400 MAHCC DOID:0050715 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym oio:hasRelatedSynonym MAHCD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277410 MAHCD DOID:0050716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors Orphanet:98434 hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD Vkcfd VKCFD DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450 VKCFD DOID:0112172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD1 DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450, MONDO:Lexical VKCFD1 DOID:0112173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010190 pontocerebellar hypoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym PCH2 Pch2 PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277470 PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome DOID:14731 Weaver syndrome OMIM:277590 WEAVER syndrome DOID:14731 MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym Weaver-like syndrome Weaver-like syndrome WEAVER-LIKE SYNDROME DOID:14731 Weaver syndrome OMIM:277590 Weaver-like syndrome DOID:14731 -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy DOID:2384 Wernicke encephalopathy NCIT:C35764 Wernicke encephalopathy DOID:2384 MONDO:0010200 Wilson disease oio:hasExactSynonym oio:hasRelatedSynonym hepatolenticular Degeneration hepatolenticular Degeneration hepatolenticular degeneration DOID:893 Wilson disease OMIM:277900 hepatolenticular Degeneration DOID:893 -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine dehydrogenase deficiency DOID:0060236 xanthinuria MESH:C562584 xanthine dehydrogenase deficiency DOID:0060236 -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidase deficiency DOID:0060236 xanthinuria MESH:C562584 xanthine oxidase deficiency DOID:0060236 MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSynonym XPE XPe XPE DOID:0110846 xeroderma pigmentosum group E http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:278740 XPE DOID:0110846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal 2 46,XX SEX reversal 2 46,XX sex reversal 2 DOID:0111763 46,XX sex reversal 2 OMIM:278850 46,XX SEX reversal 2 DOID:0111763 MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXX2 DOID:0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:278850 SRXX2 DOID:0111763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2570,7 +2148,6 @@ MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym dos MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXY2 DOID:0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300018 SRXY2 DOID:0111777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010228 hearing loss, X-linked 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNX3 DOID:0111736 X-linked deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300030, MONDO:Lexical DFNX3 DOID:0111736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010238 hearing loss, X-linked 4 oio:hasExactSynonym oio:hasRelatedSynonym DFNX4 DOID:0111735 X-linked deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300066, MONDO:Lexical DFNX4 DOID:0111735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation oio:hasExactSynonym oio:hasRelatedSynonym Double cortex syndrome Double cortex syndrome double cortex syndrome DOID:0111169 subcortical band heterotopia OMIM:300067 Double cortex syndrome DOID:0111169 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMD X-linked DOID:0112150 X-linked spondyloepimetaphyseal dysplasia GARD:0004979 SEMD X-linked DOID:0112150 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMDX DOID:0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300106, GARD:0004979 SEMDX DOID:0112150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010256 intellectual disability, X-linked 21 oio:hasExactSynonym oio:hasRelatedSynonym MRX21 DOID:0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300143 MRX21 DOID:0112022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2579,7 +2156,6 @@ MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS2 DOID:0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300166 MCOPS2 DOID:0111809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 AMME complex OMIM:300194 chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR DOID:0111860 AMME complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 ATS-MR DOID:0111860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010266 intellectual disability, X-linked 58 oio:hasExactSynonym oio:hasRelatedSynonym MRX58 DOID:0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300210 MRX58 DOID:0112024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym Odpf syndrome Odpf syndrome ODPF syndrome DOID:0112149 terminal osseous dysplasia OMIM:300244 Odpf syndrome DOID:0112149 MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal osseous dysplasia DOID:0112149 terminal osseous dysplasia OMIM:300244, MONDO:Lexical terminal osseous dysplasia DOID:0112149 @@ -2596,8 +2172,8 @@ MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:has MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency DOID:1919 Lesch-Nyhan syndrome OMIM:300322 Hprt1 deficiency DOID:1919 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome DOID:0112127 HRPT-related hyperuricemia OMIM:300323 KELLEY-Seegmiller syndrome DOID:0112127 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym oio:hasRelatedSynonym Incontinentia pigmenti achromians Incontinentia pigmenti achromians incontinentia pigmenti achromians DOID:3156 hypomelanosis of Ito OMIM:300337 Incontinentia pigmenti achromians DOID:3156 -MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 +MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym ACSL4-related intellectual disability DOID:0112050 non-syndromic X-linked intellectual disability 63 GARD:0005613 ACSL4-related intellectual disability DOID:0112050 MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym MRX63 DOID:0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300387, MONDO:Lexical MRX63 DOID:0112050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related oio:hasExactSynonym oio:hasRelatedSynonym ARX-related intellectual disability DOID:0112021 non-syndromic X-linked intellectual disability ARX-related GARD:0005614 ARX-related intellectual disability DOID:0112021 @@ -2695,7 +2271,6 @@ MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRela MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAX2 Scax2 SCAX2 DOID:0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302600 SCAX2 DOID:0111830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 CMT1X DOID:0110209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHARGE-like syndrome, X-linked DOID:0111826 Abruzzo-Erickson syndrome OMIM:302905 CHARGE-like syndrome, X-linked DOID:0111826 -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis DOID:980 choroidal sclerosis OMIM:303100 choroidal sclerosis DOID:980 MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome DOID:0060246 MASA syndrome DOID:0060246 CRASH syndrome DOID:0060246 MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome OMIM:303600 COFFIN-Lowry syndrome DOID:3783 MONDO:0010570 craniofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniofrontonasal dysostosis DOID:14737 craniofrontonasal syndrome OMIM:304110 craniofrontonasal dysostosis DOID:14737 @@ -2703,7 +2278,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome DOID:0111784 otopalatodigital syndrome type 2 OMIM:304120 faciopalatoosseous syndrome DOID:0111784 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym oto-palato-digital syndrome type 2 DOID:0111784 otopalatodigital syndrome type 2 GARD:0005802 oto-palato-digital syndrome type 2 DOID:0111784 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 DOID:0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 OPD2 DOID:0111784 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS DOID:0111562 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical OHS DOID:0111562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew syndrome DOID:0060800 syndromic X-linked intellectual disability 5 MONDO:Lexical, OMIM:304340 PETTIGREW syndrome DOID:0060800 MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome DOID:0060800 syndromic X-linked intellectual disability 5 DOID:0060800 fried syndrome DOID:0060800 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym Nance deafness DOID:0111737 X-linked deafness 2 Orphanet:383, OMIM:304400 Nance deafness DOID:0111737 @@ -2712,16 +2286,6 @@ MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExact MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym X-linked mixed conductive and sensorineural deafness DOID:0111737 X-linked deafness 2 Orphanet:383 X-linked mixed conductive and sensorineural deafness DOID:0111737 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym conductive deafness with stapes fixation DOID:0111737 X-linked deafness 2 Orphanet:383 conductive deafness with stapes fixation DOID:0111737 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasRelatedSynonym DFN3 DOID:0111737 X-linked deafness 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004504 DFN3 DOID:0111737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym central hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.14, DOID:10003 central hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency deafness high frequency deafness High frequency deafness DOID:10003 sensorineural hearing loss DOID:10003 high frequency deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency hearing loss high frequency hearing loss High Frequency Hearing Loss DOID:10003 sensorineural hearing loss DOID:10003, NCIT:C34663 high frequency hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high-frequency hearing loss DOID:10003 sensorineural hearing loss DOID:10003 high-frequency hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive deafness perceptive deafness Perceptive deafness DOID:10003 sensorineural hearing loss DOID:10003 perceptive deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss perceptive hearing loss Perceptive hearing loss DOID:10003 sensorineural hearing loss DOID:10003 perceptive hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss or deafness perceptive hearing loss or deafness Perceptive hearing loss or deafness DOID:10003 sensorineural hearing loss DOID:10003 perceptive hearing loss or deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural deafness sensorineural deafness Sensorineural Deafness DOID:10003 sensorineural hearing loss NCIT:C26739, DOID:10003 sensorineural deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural hearing loss DOID:10003 sensorineural hearing loss MONDO:ambiguous sensorineural hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensory hearing loss sensory hearing loss Sensory hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.11, DOID:10003 sensory hearing loss DOID:10003 MONDO:0010577 hearing loss, X-linked 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNX1 DOID:0111739 X-linked deafness 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304500 DFNX1 DOID:0111739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome DOID:0050757 deafness-dystonia-optic neuronopathy syndrome OMIM:304700, MONDO:Lexical MOHR-Tranebjaerg syndrome DOID:0050757 MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:Lexical, OMIM:304790 IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked DOID:0090110 @@ -2733,9 +2297,6 @@ MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym XLHED Xlhed XLHED DOID:0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305100 XLHED DOID:0111664 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVRX Evrx EVRX DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390 EVRX DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical EVR2 DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome Orphanet:915 Aarskog syndrome DOID:0111824 -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome DOID:0111824 Aarskog syndrome MESH:C535331, OMIM:305400, Orphanet:915 faciodigitogenital syndrome DOID:0111824 -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome Orphanet:915, MESH:C535331, OMIM:305400 faciogenital dysplasia DOID:0111824 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome OMIM:305400, MESH:C535331, MONDO:Lexical Aarskog-Scott syndrome DOID:6683 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FODH Fodh FODH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305600 FODH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2745,16 +2306,12 @@ MONDO:0010615 isolated growth hormone deficiency type III oio:hasExactSynonym oi MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym oio:hasRelatedSynonym HYPX DOID:0111388 X-linked hypoparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307700 HYPX DOID:0111388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia DOID:0050445 X-linked dominant hypophosphatemic rickets DOID:0050445 X-linked hypophosphatemia DOID:0050445 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency DOID:0060022 CD40 ligand deficiency NCIT:C61244 CD40 ligand deficiency DOID:0060022 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome DOID:0080544 hyper IgM syndrome GARD:0000073 hyper IgM syndrome DOID:0080544 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym HIGM DOID:0080544 hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 HIGM DOID:0080544 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym X-linked hyper IgM syndrome DOID:6620 X-linked hyper IgM syndrome GARD:0000073 X-linked hyper IgM syndrome DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM syndrome 1 DOID:6620 X-linked hyper IgM syndrome OMIM:308230 hyper-IgM syndrome 1 DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym XHIM DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 XHIM DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative syndrome 1 DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 DOID:0060705 X-linked lymphoproliferative syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 XLP1 DOID:0060705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS DOID:0060473 Kabuki syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 KMS DOID:0060473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym dysplasia Olfactogenitalis of De Morsier dysplasia Olfactogenitalis of De Morsier dysplasia olfactogenitalis of de morsier DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 dysplasia Olfactogenitalis of De Morsier DOID:0090094 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis spinulosa decalvans DOID:0080753 keratosis follicularis spinulosa decalvans MESH:C536159 keratosis follicularis spinulosa decalvans DOID:0080753 MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell Leukemia DOID:12603 acute leukemia NCIT:C9298, DOID:12603 stem cell leukemia DOID:12603 MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukaemia stem cell leukaemia Stem cell leukaemia DOID:12603 acute leukemia http://purl.obolibrary.org/obo/OMO_0003005 stem cell leukaemia DOID:12603 MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 DOID:0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical SPGFX2 DOID:0070185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2767,12 +2324,10 @@ MONDO:0010659 FRAXE intellectual disability oio:hasExactSynonym oio:hasRelatedSy MONDO:0010660 intellectual disability, X-linked 9 oio:hasExactSynonym oio:hasRelatedSynonym MRX9 DOID:0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309549, MONDO:Lexical MRX9 DOID:0112034 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation Gustavson type DOID:0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0005611 X-linked mental retardation Gustavson type DOID:0081123 MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion DOID:0111813 syndactyly type 8 OMIM:309630, MONDO:Lexical metacarpal 4-5 fusion DOID:0111813 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical linear skin defects with multiple congenital anomalies 1 DOID:0111808 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 DOID:0111225 centronuclear myopathy X-linked OMIM:310400 myotubular myopathy 1 DOID:0111225 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX DOID:0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 CNMX DOID:0111225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis 1 DOID:0111798 X-linked nephrolithiasis type I OMIM:310468 nephrolithiasis 1 DOID:0111798 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym XRN DOID:0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310468 XRN DOID:0111798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010690 congenital stationary night blindness 1A oio:hasExactSynonym oio:hasRelatedSynonym nyctalopia DOID:8499 night blindness OMIM:310500 nyctalopia DOID:8499 MONDO:0010693 nystagmus 1, congenital, X-linked oio:hasExactSynonym oio:hasRelatedSynonym NYS1 DOID:0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:310700, MONDO:Lexical NYS1 DOID:0111790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym FMR1-related primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 FMR1-related primary ovarian insufficiency DOID:0080857 MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 fragile X-associated primary ovarian insufficiency DOID:0080857 @@ -2783,7 +2338,6 @@ MONDO:0010712 panhypopituitarism, X-linked oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym complement Factor properdin deficiency complement Factor properdin deficiency complement factor properdin deficiency DOID:0111768 X-linked properdin deficiency OMIM:312060 complement Factor properdin deficiency DOID:0111768 MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym CFPD DOID:0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312060, MONDO:Lexical CFPD DOID:0111768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym X-linked juvenile retinoschisis 1 DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked oio:hasExactSynonym oio:hasRelatedSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004985 SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis DOID:0111767 X-linked thrombocytopenia with beta-thalassemia OMIM:314050 thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis DOID:0111767 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym VACTERLX DOID:0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:314390 VACTERLX DOID:0111766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010763 spermatogenic failure, Y-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym SPGFY1 DOID:0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:400042, MONDO:Lexical SPGFY1 DOID:0070186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2792,7 +2346,6 @@ MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym Marsden syndrome DOID:0111755 Leber hereditary optic neuropathy and dystonia OMIM:500001 Marsden syndrome DOID:0111755 MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym LDYT DOID:0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0008476 LDYT DOID:0111755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 oio:hasExactSynonym oio:hasRelatedSynonym MLASA3 DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:500011, MONDO:Lexical MLASA3 DOID:0111184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Cytopathy mitochondrial Cytopathy mitochondrial cytopathy DOID:699 mitochondrial myopathy OMIM:530000 mitochondrial Cytopathy DOID:699 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome GARD:0000347 congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis and congenital heart defects DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome OMIM:600001 pancreatic agenesis and congenital heart defects DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym HDCA DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600001, MONDO:Lexical HDCA DOID:0111733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2807,7 +2360,6 @@ MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynony MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A OMIM:600101 autosomal dominant nonsyndromic deafness 2A DOID:0110558 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym DFNA2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600101, DOID:0110558, MONDO:Lexical DFNA2A DOID:0110558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 Parkinson's disease 2 DOID:0060368 autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 -MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome DOID:0060237 Warburg micro syndrome OMIM:600118 micro syndrome DOID:0060237 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 Warburg micro syndrome 1 DOID:0110716 Warburg micro syndrome 1 OMIM:600118 WARBURG micro syndrome 1 DOID:0110716 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853 AGPS deficiency DOID:0110853 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym alkyldihydroxyacetonephosphate synthase deficiency alkyldihydroxyacetonephosphate synthase deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853, OMIM:600121 alkyldihydroxyacetonephosphate synthase deficiency DOID:0110853 @@ -2818,10 +2370,6 @@ MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSy MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia 2 DOID:0070298 multiple epiphyseal dysplasia 2 GARD:0009791 multiple epiphyseal dysplasia 2 DOID:0070298 MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDM2 DOID:0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600204 EDM2 DOID:0070298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010849 palmoplantar keratoderma, Bothnian type oio:hasExactSynonym oio:hasRelatedSynonym PPKB DOID:0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600231 PPKB DOID:0111707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia FRONTOTEMPORAL DEMENTIA DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:Lexical, OMIM:600274 frontotemporal dementia DOID:0111227 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym Pallidopontonigral Degeneration Pallidopontonigral Degeneration pallidopontonigral degeneration DOID:9255 frontotemporal dementia OMIM:600274 Pallidopontonigral Degeneration DOID:9255 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia DOID:9255 frontotemporal dementia MONDO:Lexical, OMIM:600274 frontotemporal dementia DOID:9255 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym multiple system tauopathy with presenile dementia DOID:9255 frontotemporal dementia OMIM:600274 multiple system tauopathy with presenile dementia DOID:9255 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 DOID:0110488 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 OMIM:600316 autosomal recessive nonsyndromic deafness 3 DOID:0110488 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNB3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110488, MONDO:Lexical, OMIM:600316 DFNB3 DOID:0110488 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2840,7 +2388,6 @@ MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym lo MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A DOID:0110573 autosomal dominant deafness 4A DOID:0110573 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A OMIM:600652 autosomal dominant nonsyndromic deafness 4A DOID:0110573 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym DFNA4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110573, MONDO:Lexical, OMIM:600652 DFNA4A DOID:0110573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical D-2-hydroxyglutaric aciduria 1 DOID:0111351 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 autosomal recessive nonsyndromic deafness 4 DOID:0110498 autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 OMIM:600791 autosomal recessive nonsyndromic deafness 4 DOID:0110498 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym DFNB4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110498, MONDO:Lexical, OMIM:600791 DFNB4 DOID:0110498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2878,8 +2425,6 @@ MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 DOID:0110575 autosomal dominant deafness 5 DOID:0110575 MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 OMIM:600994 autosomal dominant nonsyndromic deafness 5 DOID:0110575 MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNA5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110575, OMIM:600994, MONDO:Lexical DFNA5 DOID:0110575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 DOID:0110649 long QT syndrome 8 OMIM:601005 long QT syndrome 8 DOID:0110649 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 DOID:0110649 long QT syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 DOID:0110649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010985 epilepsy, familial adult myoclonic, 1 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 1 DOID:0111690 familial adult myoclonic epilepsy 1 OMIM:601068 benign adult familial myoclonic epilepsy 1 DOID:0111690 MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 DOID:0110535 autosomal recessive deafness 9 DOID:0110535 MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 OMIM:601071 autosomal recessive nonsyndromic deafness 9 DOID:0110535 @@ -2898,7 +2443,6 @@ MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oio:hasExactSynony MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYME-Gripp syndrome AYME-Gripp syndrome Ayme-Gripp syndrome DOID:0111688 Ayme-Gripp syndrome OMIM:601088 AYME-Gripp syndrome DOID:0111688 MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601088 cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation DOID:0111688 MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYGRP DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601088 AYGRP DOID:0111688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym sudden unexplained nocturnal death syndrome DOID:0050451 Brugada syndrome OMIM:601144 sudden unexplained nocturnal death syndrome DOID:0050451 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 syndromic microphthalmia 9 OMIM:601186 anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 syndromic microphthalmia 9 GARD:0000713 clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 syndromic microphthalmia 9 GARD:0000713 pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 @@ -2918,8 +2462,6 @@ MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia diffuse cystic DOID:0111682 diffuse cystic renal dysplasia GARD:0004658 renal dysplasia diffuse cystic DOID:0111682 MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym CYSRD DOID:0111682 diffuse cystic renal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601331, MONDO:Lexical CYSRD DOID:0111682 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome DOID:0081441 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome DOID:0081441 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS DOID:7400 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS DOID:7400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction DOID:3526 cerebral infarction OMIM:601367 cerebral infarction DOID:3526 MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke DOID:6713 cerebrovascular disease DOID:6713 stroke DOID:6713 MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA DOID:6713 cerebrovascular disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 CVA DOID:6713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 9 DOID:0110593 autosomal dominant nonsyndromic deafness 9 DOID:0110593 autosomal dominant deafness 9 DOID:0110593 @@ -2943,13 +2485,10 @@ MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynony MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A OMIM:601544 autosomal dominant nonsyndromic deafness 3A DOID:0110564 MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym DFNA3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110564, OMIM:601544, MONDO:Lexical DFNA3A DOID:0110564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD1 DOID:0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601675, MONDO:Lexical TTD1 DOID:0111873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym Tay syndrome DOID:2960 photosensitive trichothiodystrophy OMIM:601675 Tay syndrome DOID:2960 -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy OMIM:601675 trichothiodystrophy with congenital ichthyosis DOID:2960 MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 18Q- syndrome 18Q- syndrome 18q- syndrome DOID:0060407 chromosome 18q deletion syndrome OMIM:601808 18Q- syndrome DOID:0060407 MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 DOID:0111411 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical EVR4 DOID:0111411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 DOID:0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical HHF2 DOID:0070218 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis DOID:13317 hyperinsulinemic hypoglycemia OMIM:601820 nesidioblastosis DOID:13317 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 DOID:0110545 autosomal dominant deafness 13 DOID:0110545 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 OMIM:601868 autosomal dominant nonsyndromic deafness 13 DOID:0110545 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNA13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110545, OMIM:601868, MONDO:Lexical DFNA13 DOID:0110545 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2961,7 +2500,6 @@ MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynon MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB72 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 DFNB72 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB95 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 DFNB95 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011162 cataract 14 multiple types oio:hasNarrowSynonym oio:hasRelatedSynonym CAE3 Cae3 CAE3 DOID:0110253 cataract 14 multiple types http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601885 CAE3 DOID:0110253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011176 intestinal hypomagnesemia 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMG Homg HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602014 HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011177 ectodermal dysplasia 4, hair/nail type oio:hasExactSynonym oio:hasRelatedSynonym ECTD4 DOID:0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602032 ECTD4 DOID:0111658 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym articulatory apraxia DOID:0111275 speech-language disorder-1 GARD:0012889 articulatory apraxia DOID:0111275 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym developmental apraxia of speech DOID:0111275 speech-language disorder-1 GARD:0012889 developmental apraxia of speech DOID:0111275 @@ -2970,7 +2508,6 @@ MONDO:0011190 nephronophthisis 2 oio:hasExactSynonym oio:hasRelatedSynonym NPH2 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A DOID:0110473 autosomal recessive deafness 18A DOID:0110473 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A OMIM:602092 autosomal recessive nonsyndromic deafness 18A DOID:0110473 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym DFNB18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110473, OMIM:602092 DFNB18A DOID:0110473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy DOID:0050795 cone dystrophy OMIM:602093 retinal cone dystrophy DOID:0050795 MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy 14 DOID:0080314 cone-rod dystrophy 14 OMIM:602093 cone-rod dystrophy 14 DOID:0080314 MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer's disease 5 DOID:0110037 Alzheimer's disease 5 DOID:0110037 Alzheimer's disease 5 DOID:0110037 MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym AD5 Ad5 AD5 DOID:0110037 Alzheimer's disease 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602096 AD5 DOID:0110037 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3056,7 +2593,6 @@ MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio: MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 DOID:0110547 autosomal dominant deafness 16 DOID:0110547 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 OMIM:603964 autosomal dominant nonsyndromic deafness 16 DOID:0110547 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 DFNA16 DOID:0110547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts oio:hasExactSynonym oio:hasRelatedSynonym megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004, MONDO:Lexical megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 DOID:0110478 autosomal recessive deafness 20 DOID:0110478 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 OMIM:604060 autosomal recessive nonsyndromic deafness 20 DOID:0110478 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNB20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604060, DOID:0110478, MONDO:Lexical DFNB20 DOID:0110478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3064,7 +2600,6 @@ MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRe MONDO:0011414 Peters anomaly oio:hasExactSynonym oio:hasRelatedSynonym anterior segment dysgenesis 5 DOID:0080610 anterior segment dysgenesis 5 OMIM:604229 anterior segment dysgenesis 5 DOID:0080610 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP1 DOID:0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604233, MONDO:Lexical GEFSP1 DOID:0111302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E oio:hasExactSynonym oio:hasBroadSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E Orphanet:119, DOID:0110279 beta-sarcoglycanopathy DOID:0110279 -MONDO:0011426 aceruloplasminemia oio:hasExactSynonym oio:hasBroadSynonym cerebellar ataxia DOID:0050753 cerebellar ataxia OMIM:genemap2, OMIM:604290 cerebellar ataxia DOID:0050753 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym acute juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 acute juvenile rheumatoid arthritis DOID:676 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis DOID:676 juvenile rheumatoid arthritis DOID:676 juvenile chronic polyarthritis DOID:676 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym monarticular juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 monarticular juvenile rheumatoid arthritis DOID:676 @@ -3076,11 +2611,9 @@ MONDO:0011437 microcephaly 4, primary, autosomal recessive oio:hasExactSynonym o MONDO:0011443 febrile seizures, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FEB4 DOID:0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604352 FEB4 DOID:0111305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011448 PPARG-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy associated with PPARG mutations DOID:0070204 familial partial lipodystrophy type 3 GARD:0012600 familial partial lipodystrophy associated with PPARG mutations DOID:0070204 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym NPH3 Nph3 NPH3 DOID:0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604387 NPH3 DOID:0111114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:genemap2, OMIM:604393 cone-rod dystrophy DOID:0050572 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 DOID:0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 GEFSP2 DOID:0111294 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 PAPA syndrome GARD:0009176 pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Soldiers heart Soldiers heart soldiers heart DOID:0111154 postural orthostatic tachycardia syndrome OMIM:604715 Soldiers heart DOID:0111154 -MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym neurocirculatory asthenia DOID:11569 neurocirculatory asthenia OMIM:604715, DOID:0111154 neurocirculatory asthenia DOID:11569 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 DOID:0110550 autosomal dominant deafness 20 DOID:0110550 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 OMIM:604717 autosomal dominant nonsyndromic deafness 20 DOID:0110550 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNA20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110550, OMIM:604717, MONDO:Lexical DFNA20 DOID:0110550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3165,7 +2698,6 @@ MONDO:0011716 acute hemorrhagic leukoencephalitis oio:hasExactSynonym oio:hasRel MONDO:0011717 hyperinsulinism-hyperammonemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym HHF6 DOID:0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606762, MONDO:Lexical HHF6 DOID:0070217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym oio:hasRelatedSynonym SPGF3 DOID:0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606766 SPGF3 DOID:0070168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011721 distal myopathy with anterior tibial onset oio:hasExactSynonym oio:hasRelatedSynonym DMAT DOID:0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606768 DMAT DOID:0111187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome MESH:C536830 glucose transporter type 1 deficiency syndrome DOID:0070560 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome 1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1 deficiency syndrome 1 DOID:0070561 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1DS1 DOID:0070561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011730 fumaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym FMRD DOID:0111261 fumarase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606812 FMRD DOID:0111261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3192,7 +2724,6 @@ MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynon MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 dHMN3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN4 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 dHMN4 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607091 CDG IId DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 DOID:0050640 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 anauxetic dysplasia 1 DOID:0050640 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 DOID:0110489 autosomal recessive deafness 30 DOID:0110489 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 OMIM:607101 autosomal recessive nonsyndromic deafness 30 DOID:0110489 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 DFNB30 DOID:0110489 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3202,7 +2733,6 @@ MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym Perenia MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym atopic rhinitis DOID:4481 allergic rhinitis DOID:4481 atopic rhinitis DOID:4481 MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 non-seasonal allergic rhinitis DOID:4481 MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 seasonal allergic rhinitis DOID:4481 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma OMIM:genemap2, OMIM:607174 meningioma DOID:3565 MONDO:0011792 thyroid dyshormonogenesis 6 oio:hasExactSynonym oio:hasRelatedSynonym TDH6 DOID:0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607200 TDH6 DOID:0112189 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 DOID:0110492 autosomal recessive deafness 33 DOID:0110492 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 OMIM:607239 autosomal recessive nonsyndromic deafness 33 DOID:0110492 @@ -3211,7 +2741,6 @@ MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS DOID:0110116 autoimmune lymphoproliferative syndrome type 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 CEDS DOID:0110116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 24 DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 spinocerebellar ataxia 24 DOID:0111611 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic intrusions DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 spinocerebellar ataxia with saccadic Intrusions DOID:0111611 -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 Smith-McCort dysplasia DOID:0060247 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 Smith-McCort dysplasia 1 DOID:0081270 Smith-McCort dysplasia 1 OMIM:607326 SMITH-McCort dysplasia 1 DOID:0081270 MONDO:0011821 Meckel syndrome, type 3 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 DOID:0070117 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym CoQ deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 CoQ deficiency 1 DOID:0070238 @@ -3219,8 +2748,6 @@ MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRel MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym coenzyme Q deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 coenzyme Q deficiency 1 DOID:0070238 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym ubiquinone deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 ubiquinone deficiency 1 DOID:0070238 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym COQ10D1 DOID:0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607426, MONDO:Lexical COQ10D1 DOID:0070238 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 subcortical band heterotopia DOID:0111169 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 subcortical laminar heterotopia DOID:0111169 MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym lissencephaly 1 DOID:0112237 lissencephaly 1 MONDO:Lexical, OMIM:607432 lissencephaly 1 DOID:0112237 MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym LIS1 DOID:0112237 lissencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607432, MONDO:Lexical LIS1 DOID:0112237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 44 DOID:0110569 autosomal dominant nonsyndromic deafness 44 DOID:0110569 autosomal dominant deafness 44 DOID:0110569 @@ -3230,9 +2757,6 @@ MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, AVELLINO type corneal dystrophy, AVELLINO type corneal dystrophy, Avellino type DOID:0060444 granular corneal dystrophy 2 OMIM:607541, MONDO:Lexical corneal dystrophy, AVELLINO type DOID:0060444 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym SmD with bowed forearms and Facial Dysmorphism SmD with bowed forearms and Facial Dysmorphism SMD with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 SmD with bowed forearms and Facial Dysmorphism DOID:0112305 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1 Pch1 PCH1 DOID:0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596 PCH1 DOID:0112322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID syndrome DOID:0060833 Griscelli syndrome type 2 OMIM:607624 Paid syndrome DOID:0060833 MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C2 DOID:0070114 Niemann-Pick disease type C2 GARD:0003992 Niemann-Pick disease type C2 DOID:0070114 MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym oio:hasRelatedSynonym DHMN7B Dhmn7B DHMN7B DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607641 DHMN7B DOID:0111202 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3240,9 +2764,6 @@ MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 oio:hasExactSynonym oio:hasRelatedSynonym EIG9 DOID:0111323 idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607682 EIG9 DOID:0111323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 dentoleukoencephalopathy DOID:0060794 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 -MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 congenital bile acid synthesis defect OMIM:607765 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia DOID:0080188 chronic myelomonocytic leukemia NCIT:C9233 chronic myelomonocytic leukemia DOID:0080188 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D oio:hasExactSynonym oio:hasRelatedSynonym DI-CMTD Di-Cmtd DI-CMTD DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607791 DI-CMTD DOID:0110200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 DOID:0110495 autosomal recessive deafness 37 DOID:0110495 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 OMIM:607821 autosomal recessive nonsyndromic deafness 37 DOID:0110495 @@ -3255,7 +2776,6 @@ MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 oio:hasExactSynony MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasRelatedSynonym oio:hasExactSynonym subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome Orphanet:1606, DOID:0060410 subtelomeric 1p36 deletion DOID:0060410 MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 2 DOID:0111692 familial adult myoclonic epilepsy 2 OMIM:607876 benign adult familial myoclonic epilepsy 2 DOID:0111692 MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FAME2 DOID:0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607876 FAME2 DOID:0111692 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym oio:hasRelatedSynonym macular Degeneration macular Degeneration macular degeneration DOID:4448 macular degeneration OMIM:607921 macular Degeneration DOID:4448 MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 syndromic microphthalmia 6 GARD:0003645 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia and pituitary anomalies DOID:0111805 syndromic microphthalmia 6 OMIM:607932 microphthalmia and pituitary anomalies DOID:0111805 MONDO:0011937 peeling skin syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis bullosa of Siemens-like DOID:0070523 peeling skin syndrome 4 OMIM:607936 ichthyosis bullosa of Siemens-like DOID:0070523 @@ -3276,7 +2796,6 @@ MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 oio:hasExactSynon MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 DOID:0110567 autosomal dominant deafness 41 DOID:0110567 MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 OMIM:608224 autosomal dominant nonsyndromic deafness 41 DOID:0110567 MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym DFNA41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608224, DOID:0110567 DFNA41 DOID:0110567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive oio:hasRelatedSynonym oio:hasExactSynonym CML DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3174, MONDO:Lexical, DOID:8552, OMIM:608232, Orphanet:521 CML DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 DOID:0110499 autosomal recessive deafness 40 DOID:0110499 MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 OMIM:608264 autosomal recessive nonsyndromic deafness 40 DOID:0110499 MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym DFNB40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110499, MONDO:Lexical, OMIM:608264 DFNB40 DOID:0110499 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3300,9 +2819,6 @@ MONDO:0012029 microcephaly 6, primary, autosomal recessive oio:hasExactSynonym o MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 DOID:0110568 autosomal dominant deafness 43 DOID:0110568 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 OMIM:608394 autosomal dominant nonsyndromic deafness 43 DOID:0110568 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym DFNA43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110568, MONDO:Lexical, OMIM:608394 DFNA43 DOID:0110568 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym clinical depression DOID:1470 major depressive disorder DOID:1595 clinical depression DOID:1470 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder DOID:1470 major depressive disorder MONDO:Lexical, OMIM:608516 major depressive disorder DOID:1470 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression DOID:1470 major depressive disorder OMIM:608516, DOID:1595 unipolar depression DOID:1470 MONDO:0012054 schizophrenia 12 oio:hasExactSynonym oio:hasRelatedSynonym SCZD12 Sczd12 SCZD12 DOID:0070088 schizophrenia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608543 SCZD12 DOID:0070088 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 DOID:0110493 autosomal recessive deafness 35 DOID:0110493 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 OMIM:608565 autosomal recessive nonsyndromic deafness 35 DOID:0110493 @@ -3330,7 +2846,6 @@ MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSynonym MCDR3 DOID:0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608850 MCDR3 DOID:0070440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HLH3 Hlh3 HLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 HLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HPLH3 Hplh3 HPLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 HPLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome 1B DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 MONDO:0012157 congenital myasthenic syndrome 4C oio:hasExactSynonym oio:hasRelatedSynonym CMS Id Cms Id CMS Id DOID:0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608931 CMS Id DOID:0110679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy OMIM:608940, MONDO:Lexical spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 @@ -3417,8 +2932,6 @@ MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:has MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 DOID:0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 HHF4 DOID:0070215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 DOID:0111967 immunodeficiency 54 OMIM:609981 immunodeficiency 54 DOID:0111967 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD54 DOID:0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609981 IMD54 DOID:0111967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym neuronal ceroid lipofuscinosis 8 DOID:0110723 neuronal ceroid lipofuscinosis 8 GARD:0004010 neuronal ceroid lipofuscinosis 8 DOID:0110723 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 DOID:0110723 neuronal ceroid lipofuscinosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 CLN8 DOID:0110723 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital glutamine deficiency DOID:0070544 congenital glutamine deficiency GARD:0009848 congenital glutamine deficiency DOID:0070544 MONDO:0012396 exercise-induced hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym HHF7 DOID:0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610021, MONDO:Lexical HHF7 DOID:0070214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012400 cortical dysplasia-focal epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTHSL1 DOID:0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610042 PTHSL1 DOID:0090130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3611,7 +3124,6 @@ MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExa MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD4 DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612998, MONDO:Lexical EDMD4 DOID:0070249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 5, autosomal dominant EMERY-Dreifuss muscular dystrophy 5, autosomal dominant Emery-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 OMIM:612999 EMERY-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD5 DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612999, MONDO:Lexical EDMD5 DOID:0070250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym focal nonepidermolytic palmoplantar keratoderma DOID:0111708 focal nonepidermolytic palmoplantar keratoderma OMIM:613000 focal nonepidermolytic palmoplantar keratoderma DOID:0111708 MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym FNEPPK1 DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613000 FNEPPK1 DOID:0111709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 2 biliary cirrhosis, primary, 2 BILIARY CIRRHOSIS, PRIMARY, 2 DOID:0070359 primary biliary cholangitis 2 OMIM:613007, MONDO:Lexical biliary cirrhosis, primary, 2 DOID:0070359 MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym PBC2 DOID:0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613007, MONDO:Lexical PBC2 DOID:0070359 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3742,7 +3254,6 @@ MONDO:0013492 alopecia-intellectual disability syndrome 3 oio:hasExactSynonym oi MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 IMD51 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym CANDF5 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953, MONDO:Lexical CANDF5 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 DOID:0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 SPGF8 DOID:0070169 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013506 schizophrenia 16 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7Q36.3 Duplication syndrome, 362-Kb chromosome 7Q36.3 Duplication syndrome, 362-Kb Chromosome 7q36.3 Duplication Syndrome, 362-Kb DOID:0070093 schizophrenia 18 OMIM:613959 chromosome 7Q36.3 Duplication syndrome, 362-Kb DOID:0070093 MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDG3 DOID:0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613960 CDG3 DOID:0070194 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013509 intellectual disability, autosomal dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 autosomal dominant intellectual developmental disorder 6 DOID:0070036 autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 MONDO:0013512 hemoglobin H disease oio:hasExactSynonym oio:hasRelatedSynonym HEMOGLOBIN H disease HEMOGLOBIN H disease hemoglobin H disease DOID:0110031 hemoglobin H disease OMIM:613978 HEMOGLOBIN H disease DOID:0110031 @@ -3762,7 +3273,6 @@ MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynon MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym oio:hasNarrowSynonym DFNB29 DOID:0110487 autosomal recessive nonsyndromic deafness 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110487, OMIM:614035 DFNB29 DOID:0110487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement oio:hasExactSynonym oio:hasRelatedSynonym MPD4 DOID:0111190 distal myopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614065 MPD4 DOID:0111190 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013554 psoriasis 13, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym PSORS13 DOID:0111287 psoriasis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614070, MONDO:Lexical PSORS13 DOID:0111287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 MONDO:0013570 combined oxidative phosphorylation defect type 8 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 8 DOID:0111479 combined oxidative phosphorylation deficiency 8 MONDO:Lexical, OMIM:614096 combined oxidative phosphorylation deficiency 8 DOID:0111479 MONDO:0013573 cranioectodermal dysplasia 3 oio:hasExactSynonym oio:hasRelatedSynonym CRANIOECTODERMAL dysplasia 3 CRANIOECTODERMAL dysplasia 3 cranioectodermal dysplasia 3 DOID:0080805 cranioectodermal dysplasia 3 OMIM:614099 CRANIOECTODERMAL dysplasia 3 DOID:0080805 MONDO:0013578 DYRK1A-related intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 autosomal dominant intellectual developmental disorder 7 DOID:0070037 autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 @@ -3786,7 +3296,6 @@ MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD2 DOID:0111726 geleophysic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614185 GPHYSD2 DOID:0111726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 oio:hasExactSynonym oio:hasRelatedSynonym PPNAD3 DOID:0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614190 PPNAD3 DOID:0070548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013625 Parkinson disease 17 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson's disease 17 DOID:0060897 Parkinson's disease 17 DOID:0060897 Parkinson's disease 17 DOID:0060897 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis DOID:4398 pustulosis of palm and sole OMIM:614204 palmoplantar pustulosis DOID:4398 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 OMIM:614207 glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS3 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614207 HPMRS3 DOID:0070435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 33 DOID:0110562 autosomal dominant nonsyndromic deafness 33 DOID:0110562 autosomal dominant deafness 33 DOID:0110562 @@ -3871,7 +3380,6 @@ MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym a MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym LDS4 DOID:0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614816 LDS4 DOID:0070233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus spermatogenic failure with defective sperm annulus Spermatogenic failure with defective sperm annulus DOID:0070178 spermatogenic failure 10 OMIM:614822 spermatogenic failure with defective sperm annulus DOID:0070178 MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 DOID:0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical SPGF10 DOID:0070178 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis DOID:1712 aortic valve stenosis OMIM:614823 aortic valve stenosis DOID:1712 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA8 DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614830, MONDO:Lexical MDDGA8 DOID:0111231 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013923 microcephaly 9, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH9 DOID:0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614852 MCPH9 DOID:0070292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 98 DOID:0110540 autosomal recessive nonsyndromic deafness 98 DOID:0110540 autosomal recessive deafness 98 DOID:0110540 @@ -3942,7 +3450,6 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:h MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 56 DOID:0111982 immunodeficiency 56 OMIM:615207 immunodeficiency 56 DOID:0111982 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMD56 DOID:0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615207 IMD56 DOID:0111982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014087 Smith-McCort dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 2 SMITH-McCort dysplasia 2 Smith-McCort dysplasia 2 DOID:0081271 Smith-McCort dysplasia 2 OMIM:615222 SMITH-McCort dysplasia 2 DOID:0081271 -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:615232 schizoaffective disorder DOID:5418 MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA12 DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615249 MDDGA12 DOID:0111235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268, MONDO:Lexical CAMRQ4 DOID:0070559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3995,7 +3502,6 @@ MONDO:0014242 van Maldergem syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0014245 Diamond-Blackfan anemia 12 oio:hasExactSynonym oio:hasRelatedSynonym DBA12 DOID:0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615550 DBA12 DOID:0111882 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014246 episodic pain syndrome, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym FEPS2 DOID:0111730 familial episodic pain syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615551 FEPS2 DOID:0111730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement oio:hasExactSynonym oio:hasRelatedSynonym FEPS3 DOID:0111731 familial episodic pain syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615552 FEPS3 DOID:0111731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasBroadSynonym hypobetalipoproteinemia DOID:1390 hypobetalipoproteinemia OMIM:615558, OMIM:genemap2 hypobetalipoproteinemia DOID:1390 MONDO:0014259 neuronopathy, distal hereditary motor, type 2D oio:hasExactSynonym oio:hasRelatedSynonym HMN2D DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615575, MONDO:Lexical HMN2D DOID:0111210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 18 DOID:0111484 combined oxidative phosphorylation deficiency 18 MONDO:Lexical, OMIM:615578 combined oxidative phosphorylation deficiency 18 DOID:0111484 MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym COXPD18 DOID:0111484 combined oxidative phosphorylation deficiency 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615578, MONDO:Lexical COXPD18 DOID:0111484 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4027,7 +3533,6 @@ MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oi MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oio:hasRelatedSynonym MPXPS DOID:0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615673, MONDO:Lexical MPXPS DOID:0111335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 20 DOID:0111941 immunodeficiency 20 OMIM:615707, MONDO:Lexical immunodeficiency 20 DOID:0111941 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym IMD20 DOID:0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615707 IMD20 DOID:0111941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615716 HPMRS4 DOID:0070437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse oio:hasExactSynonym oio:hasRelatedSynonym PPKNEFD DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615735 PPKNEFD DOID:0111710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 22 DOID:0111937 immunodeficiency 22 OMIM:615758, MONDO:Lexical immunodeficiency 22 DOID:0111937 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD22 DOID:0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615758 IMD22 DOID:0111937 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4062,7 +3567,6 @@ MONDO:0014399 ataxia-telangiectasia-like disorder 2 oio:hasExactSynonym oio:hasR MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym Miura type epiphyseal chondrodysplasia DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym ECDM DOID:0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615923 ECDM DOID:0070316 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome XIV DOID:0060958 orofaciodigital syndrome XIV MONDO:Lexical, OMIM:615948 orofaciodigital syndrome XIV DOID:0060958 -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:615954 primary macronodular adrenal hyperplasia DOID:0111622 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 AIMAH2 DOID:0111624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014418 myopathy, centronuclear, 5 oio:hasExactSynonym oio:hasRelatedSynonym CNM5 DOID:0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615959, MONDO:Lexical CNM5 DOID:0111222 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD26 DOID:0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615966 IMD26 DOID:0111961 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4070,7 +3574,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 OMIM:615974 autosomal recessive nonsyndromic deafness 102 DOID:0110463 MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym DFNB102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110463, OMIM:615974, MONDO:Lexical DFNB102 DOID:0110463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy type 6 DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome DOID:1935 Bardet-Biedl syndrome GARD:0000821 Bardet-Biedl syndrome DOID:1935 MONDO:0014453 immunodeficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym IMD36 DOID:0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616005 IMD36 DOID:0111949 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCN6 DOID:0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616022, MONDO:Lexical SCN6 DOID:0112134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 @@ -4125,7 +3628,6 @@ MONDO:0014571 optic atrophy 9 oio:hasExactSynonym oio:hasRelatedSynonym OPA9 D MONDO:0014572 Lichtenstein-Knorr syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia 19 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 PLACK syndrome MONDO:Lexical, OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 MONDO:0014580 intellectual disability, autosomal dominant 33 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 autosomal dominant intellectual developmental disorder 33 DOID:0070063 autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 -MONDO:0014581 congenital myasthenic syndrome 2A oio:hasExactSynonym oio:hasRelatedSynonym CMS IIa DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009895 CMS IIa DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014588 congenital myasthenic syndrome 11 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ie Cms Ie CMS Ie DOID:0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616326 CMS Ie DOID:0110675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 DOID:0110588 autosomal dominant deafness 67 DOID:0110588 MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 OMIM:616340 autosomal dominant nonsyndromic deafness 67 DOID:0110588 @@ -4159,7 +3661,6 @@ MONDO:0014637 DOCK2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD40 MONDO:0014652 exudative vitreoretinopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym EVR6 DOID:0111410 exudative vitreoretinopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616468 EVR6 DOID:0111410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOB2 DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616479 PEOB2 DOID:0111515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014660 microcephaly 15, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH15 DOID:0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616486 MCPH15 DOID:0070277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement DOID:0111022 cone-rod dystrophy 16 OMIM:616502 retinal dystrophy with early macular involvement DOID:0111022 MONDO:0014673 cataract 44 oio:hasExactSynonym oio:hasBroadSynonym total early-onset cataract DOID:0110267 cataract 44 DOID:0110267 total early-onset cataract DOID:0110267 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 DOID:0110465 autosomal recessive deafness 104 DOID:0110465 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 OMIM:616515 autosomal recessive nonsyndromic deafness 104 DOID:0110465 @@ -4229,8 +3730,6 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym oio:hasRelatedSynonym Seligmann's disease DOID:0060126 alpha chain disease Wikipedia:Heavy_chain_disease, DOID:0060126 Seligmann's disease DOID:0060126 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor DOID:5457 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour DOID:5457 laryngeal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 laryngeal neuroendocrine tumour DOID:5457 -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer DOID:1781 thyroid cancer NCIT:C4815 thyroid cancer DOID:1781 -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer DOID:1781 thyroid cancer NCIT:C4815 thyroid gland cancer DOID:1781 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym head and neck cancer, thyroid head and neck cancer, thyroid head and neck cancer, Thyroid DOID:3963 thyroid gland carcinoma DOID:3963, NCIT:C4815 head and neck cancer, thyroid DOID:3963 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T cell and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency DOID:628 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis exudativa bronchiolitis exudativa Bronchiolitis exudativa DOID:2799 bronchiolitis obliterans DOID:2799 bronchiolitis exudativa DOID:2799 @@ -4240,7 +3739,6 @@ MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Com MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Complex, type 2 Carney Complex, type 2 Carney Complex, Type 2 DOID:0050471 Carney complex DOID:0050471 Carney Complex, type 2 DOID:0050471 MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis DOID:0050639 primary cutaneous amyloidosis DOID:0050639 familial primary localized cutaneous amyloidosis DOID:0050639 MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lemierre's syndrome DOID:11337 Lemierre's syndrome DOID:11337 Lemierre's syndrome DOID:11337 -MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute sore throat DOID:2275 pharyngitis DOID:11337 acute sore throat DOID:2275 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor malignant Nasopharyngeal tumor DOID:9261 nasopharynx carcinoma NCIT:C9321, DOID:9261 malignant nasopharyngeal tumor DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx DOID:9261 nasopharynx carcinoma ICD9CM:147, DOID:9261, MTH:NOCODE malignant neoplasm of nasopharynx DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasopharynx DOID:9261 nasopharynx carcinoma DOID:9261, NCIT:C3871, MONDO:patterns/carcinoma carcinoma of nasopharynx DOID:9261 @@ -4250,24 +3748,16 @@ MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelate MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia DOID:12177 common variable immunodeficiency DOID:12177 acquired hypogammaglobulinemia DOID:12177 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym haemophagocytic syndrome DOID:0050120 hemophagocytic lymphohistiocytosis DOID:0050120 haemophagocytic syndrome DOID:0050120 MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 DOID:0081453 Dent disease 1 DOID:0050699 Dent disease 1 DOID:0081453 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 DOID:0081454 Dent disease 2 DOID:0050699 Dent disease 2 DOID:0081454 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 NCIT:C75467 hereditary motor and sensory neuropathy DOID:0050541 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy NCIT:C75467 hereditary motor and sensory neuropathy DOID:2477 MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym eosinophilia DOID:999 hypereosinophilic syndrome DOID:999 eosinophilia DOID:999 -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 DOID:0111156 globozoospermia DOID:0111156 MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060307 autosomal dominant mental retardation DOID:0060307 -MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer DOID:119 vaginal cancer NCIT:C3917 vaginal cancer DOID:119 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 benign cystosarcoma phyllodes DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm benign Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor DOID:1631, NCIT:C4274 benign phyllodes neoplasm DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 cystosarcoma phyllodes DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor NCIT:C2977, DOID:1631 phyllodes neoplasm DOID:1631 -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym SBS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605249, MONDO:Lexical SBS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym bilateral renal aplasia DOID:0080200 bilateral renal aplasia DOID:0080200 bilateral renal aplasia DOID:0080200 MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency DOID:9273 citrullinemia DOID:9273 ass deficiency DOID:9273 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy DOID:0050667 alcohol-related neurodevelopmental disorder DOID:0050667 static encephalopathy DOID:0050667 -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects Orphanet:1915 alcohol-related birth defects DOID:0050668 MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum dysplastic Gangliocytoma of Cerebellum DOID:6457 Cowden syndrome DOID:6457, NCIT:C8419 dysplastic gangliocytoma of cerebellum DOID:6457 MONDO:0016063 Cowden disease oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome DOID:6457 Cowden syndrome Orphanet:201, NCIT:C3076, DOID:6457 multiple hamartoma syndrome DOID:6457 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonic disease DOID:450 myotonic disease DOID:450 myotonic disease DOID:450 @@ -4279,55 +3769,37 @@ MONDO:0016262 leiomyosarcoma of the corpus uteri oio:hasExactSynonym oio:hasRela MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune chronic active hepatitis autoimmune chronic active hepatitis Autoimmune chronic active hepatitis DOID:2048 autoimmune hepatitis https://emedicine.medscape.com/article/172356-overview#a3, DOID:2048 autoimmune chronic active hepatitis DOID:2048 MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune hepatitis with centrilobular necrosis DOID:2048 autoimmune hepatitis DOID:2048 autoimmune hepatitis with centrilobular necrosis DOID:2048 MONDO:0016318 progressive multifocal leukoencephalopathy oio:hasRelatedSynonym oio:hasExactSynonym PML DOID:643 progressive multifocal leukoencephalopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:217260, DOID:643 PML DOID:643 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis DOID:14202 adult dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis DOID:14202 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Balo disease DOID:0060215 Balo concentric sclerosis GARD:0005885 Balo disease DOID:0060215 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Tumefactive multiple sclerosis DOID:0060215 Balo concentric sclerosis GARD:0005885 Tumefactive multiple sclerosis DOID:0060215 -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome GARD:0005885 diffuse cerebral sclerosis of Schilder DOID:0080122 -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym encephalitis periaxialis concentrica encephalitis periaxialis concentrica Encephalitis periaxialis concentrica DOID:10588 adrenoleukodystrophy GARD:0005885 encephalitis periaxialis concentrica DOID:10588 MONDO:0016471 pachyonychia congenita oio:hasExactSynonym oio:hasNarrowSynonym pachyonychia congenita type 1 pachyonychia congenita type 1 Pachyonychia Congenita Type 1 DOID:0050449 pachyonychia congenita DOID:0050449 pachyonychia congenita type 1 DOID:0050449 MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym oio:hasBroadSynonym DIL DOID:0040093 drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0040093 DIL DOID:0040093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016535 hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CST syndrome DOID:0111664 ectodermal dysplasia 1 GARD:0000076 CST syndrome DOID:0111664 MONDO:0016558 familial congenital mirror movements oio:hasExactSynonym oio:hasRelatedSynonym congenital mirror movement disorder DOID:0111153 congenital mirror movement disorder GARD:0012551, DOID:0111153 congenital mirror movement disorder DOID:0111153 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis aggressive systemic mastocytosis DOID:4798 aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis DOID:4798 MONDO:0016595 inhalational anthrax oio:hasExactSynonym oio:hasRelatedSynonym inhalation anthrax DOID:0050160 inhalation anthrax DOID:0050160 inhalation anthrax DOID:0050160 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym intracranial meningioma DOID:0080842 intracranial meningioma DOID:3565 intracranial meningioma DOID:0080842 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym supratentorial meningioma DOID:0080843 supratentorial meningioma DOID:3565 supratentorial meningioma DOID:0080843 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm DOID:3565 meningioma DOID:3565 meningeal neoplasm DOID:3565 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningothelial cell tumor DOID:3565 meningioma DOID:3565 meningothelial cell tumor DOID:3565 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym primary meningeal tumor primary meningeal tumor primary Meningeal tumor DOID:3565 meningioma DOID:3565 primary meningeal tumor DOID:3565 -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 NCIT:C129028 frontonasal dysplasia 1 DOID:0081045 -MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly DOID:0070297 primary microcephaly Orphanet:2512 true microcephaly DOID:0070297 MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm DOID:3181 oligodendroglioma DOID:3181 oligodendroglial neoplasm DOID:3181 MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor DOID:3181 oligodendroglioma DOID:3181, NCIT:C6960 oligodendroglial tumor DOID:3181 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO grade II Ependymal tumor DOID:4844 benign ependymoma DOID:4844, NCIT:C3017 WHO grade II ependymal tumor DOID:4844 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymal tumors DOID:5074 high grade ependymoma DOID:5074 ependymal tumors DOID:5074 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer DOID:3540 choroid plexus cancer NCIT:C4715 choroid plexus cancer DOID:3540 MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym adult ganglioglioma DOID:5078 ganglioglioma DOID:5078 adult ganglioglioma DOID:5078 MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym childhood ganglioglioma DOID:5078 ganglioglioma DOID:5078 childhood ganglioglioma DOID:5078 MONDO:0016955 partial duplication of the long arm of chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym partial trisomy distal 4q DOID:0111159 partial trisomy distal 4q DOID:0111159 partial trisomy distal 4q DOID:0111159 -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis Orphanet:280569 crescentic glomerulonephritis DOID:13139 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym early-onset Parkinson's disease DOID:0060894 early-onset Parkinson's disease DOID:0060894 early-onset Parkinson's disease DOID:0060894 MONDO:0017282 alveolar echinococcosis oio:hasRelatedSynonym oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection DOID:12148 alveolar echinococcosis Orphanet:284 Echinococcus multilocularis infection DOID:12148 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis DOID:1496 echinococcosis GARD:0000207 echinococcosis DOID:1496 MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym fatal multiple mitochondrial dysfunction syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome GARD:0012632 fatal multiple mitochondrial dysfunction syndrome DOID:0070330 MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type III DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 -MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer DOID:1785 pituitary cancer NCIT:C4536 pituitary gland cancer DOID:1785 MONDO:0017675 punctate palmoplantar keratoderma oio:hasRelatedSynonym oio:hasExactSynonym punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma Orphanet:307967, DOID:0060361 punctate keratosis palmoplantaris DOID:0060361 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma DOID:2776 adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma DOID:2776 MONDO:0017814 primary bone lymphoma oio:hasExactSynonym oio:hasRelatedSynonym bone lymphoma DOID:6759 bone lymphoma DOID:6759 bone lymphoma DOID:6759 -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma DOID:3512 neurofibrosarcoma NCIT:C3798, Orphanet:3148 neurofibrosarcoma DOID:3512 -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Erythroleukemia erythroleukemia DOID:0080916 erythroleukemia Orphanet:318 Erythroleukemia DOID:0080916 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency DOID:2211 factor XIII deficiency DOID:2211 factor XIII deficiency DOID:2211 MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy D1 Trisomy DOID:11665 Patau syndrome NCIT:C36529, DOID:11665 D1 trisomy DOID:11665 MONDO:0018068 trisomy 13 oio:hasRelatedSynonym oio:hasExactSynonym Patau's syndrome DOID:11665 Patau syndrome DOID:11665, ICD9CM:758.1 Patau's syndrome DOID:11665 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym oio:hasRelatedSynonym xanthinuria DOID:0060236 xanthinuria DOID:0060236 xanthinuria DOID:0060236 -MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018177 glioblastoma oio:hasExactSynonym oio:hasNarrowSynonym grade IV adult astrocytic tumor grade IV adult astrocytic tumor grade IV adult Astrocytic tumor DOID:3068 glioblastoma DOID:3068, NCIT:C9094 grade IV adult astrocytic tumor DOID:3068 MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood DOID:0070324 EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym macrocolon DOID:10487 Hirschsprung's disease DOID:10487 macrocolon DOID:10487 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym Langerhans-cell histiocytosis DOID:2571 Langerhans-cell histiocytosis DOID:2571 Langerhans-cell histiocytosis DOID:2571 MONDO:0018352 squamous cell carcinoma of penis oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma DOID:5518, NCIT:C7729 squamous cell carcinoma of penis DOID:5518 -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:OIMT immature teratoma DOID:5563 MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis DOID:8125 osteochondrosis DOID:8125 osteochondritis DOID:8125 MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis juvenilis DOID:8125 osteochondrosis DOID:8125 osteochondritis juvenilis DOID:8125 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH DOID:0060699 familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBH DOID:0060699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4340,10 +3812,8 @@ MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym oio:has MONDO:0018492 hereditary clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hereditary conventional renal cell carcinoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 MONDO:0018513 squamous cell carcinoma of colon oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma NCIT:C5490, DOID:5519 squamous cell carcinoma of colon DOID:5519 MONDO:0018515 squamous cell carcinoma of rectum oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma DOID:5528, NCIT:C5554 squamous cell carcinoma of the rectum DOID:5528 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas Orphanet:424053 pancreatic mucinous cystadenocarcinoma DOID:7234 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm DOID:7235 pancreatic mucinous cystadenoma DOID:7235 pancreatic mucinous cystic neoplasm DOID:7235 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma DOID:7735 pancreatic colloid cystadenoma NCIT:C5718 pancreatic colloid cystadenoma DOID:7735 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome DOID:0111510 Marshall syndrome NCIT:C116917 Marshall syndrome DOID:0111510 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy DOID:10588 diffuse sclerosis DOID:10588 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism DOID:0090070 congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism MONDO:0004228 hypogonadotropism DOID:0090070 @@ -4377,38 +3847,22 @@ MONDO:0018769 isosporiasis oio:hasExactSynonym oio:hasRelatedSynonym infection b MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy DOID:0050592 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia DOID:474 histiocytoid hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia DOID:474 MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym oio:hasNarrowSynonym cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 congenital bile acid synthesis defect DOID:0050674 cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:BEC embryonal carcinoma DOID:3308 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma DOID:7232, NCIT:C7010 embryonal carcinoma of the central nervous system DOID:7232 MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS DOID:0050629 Aicardi-Goutieres syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 AGS DOID:0050629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym LFS1 DOID:0111503 Li-Fraumeni syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:151623 LFS1 DOID:0111503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasRelatedSynonym angiitis angiitis Angiitis DOID:865 vasculitis DOID:865 angiitis DOID:865 -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma DOID:2634 cystadenoma NCIT:C2964 cystoma DOID:2634 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia DOID:1858 McCune Albright syndrome DOID:1858, OMIM:174800 polyostotic fibrous dysplasia DOID:1858 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasBroadSynonym mucolipidosis III DOID:0080071 mucolipidosis III alpha/beta DOID:0080071 mucolipidosis III DOID:0080071 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III ALPHA/BETA mucolipidosis III ALPHA/BETA mucolipidosis III alpha/beta DOID:0080071 mucolipidosis III alpha/beta OMIM:252600 mucolipidosis III ALPHA/BETA DOID:0080071 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 NAGLU deficiency DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB mucopolysaccharidosis type iiib DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 mucopolysaccharidosis type IIIB DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 mucopolysaccharidosis type IIIB DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 mucopolysaccharidosis type IIIA DOID:0111395 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis III DOID:12801 mucopolysaccharidosis III DOID:12801 mucopolysaccharidosis III DOID:12801 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA DOID:12804 Morquio A disease DOID:0111391 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA DOID:12804 Morquio syndrome A DOID:0111391 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 mucopolysaccharidosis type IVB DOID:0111392 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB mucopolysaccharidosis type ivb DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 mucopolysaccharidosis type IVB DOID:0111392 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 mucopolysaccharidosis IV DOID:12804 deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV DOID:12804 galactosamine-6-sulfatase deficiency DOID:12804 -MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial limb-girdle myasthenia DOID:0110668 congenital myasthenic syndrome 10 DOID:3635 familial limb-girdle myasthenia DOID:0110668 MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole DOID:3590 gestational trophoblastic neoplasm DOID:3590 hydatidiform mole DOID:3590 MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy DOID:3590 gestational trophoblastic neoplasm NCIT:C3110, DOID:3590 molar pregnancy DOID:3590 -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy DOID:0070198 Miyoshi muscular dystrophy DOID:11720 Miyoshi muscular dystrophy DOID:0070198 MONDO:0018958 nemaline myopathy oio:hasExactSynonym oio:hasRelatedSynonym Rod body disease Rod body disease rod body disease DOID:3191 nemaline myopathy GARD:0012033 Rod body disease DOID:3191 MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis DOID:10983 Alport syndrome NCIT:C34842, DOID:10983 hereditary nephritis DOID:10983 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome DOID:0060403 chromosome 17q11.2 deletion syndrome NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome DOID:0060403 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen Disease DOID:0111253 neurofibromatosis 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease DOID:0111253 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis DOID:8712 neurofibromatosis NCIT:C3273 neurofibromatosis DOID:8712 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical SCAR1 DOID:0050755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym adult nephroblastoma DOID:2154 nephroblastoma DOID:2154 adult nephroblastoma DOID:2154 MONDO:0019004 kidney Wilms tumor oio:hasRelatedSynonym oio:hasExactSynonym Wilms' Tumor Wilms' Tumor Wilms' tumor DOID:2154 nephroblastoma NORD:1855 Wilms' Tumor DOID:2154 @@ -4422,23 +3876,18 @@ MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio: MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 HLTRS DOID:0111360 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus DOID:1107 esophageal carcinoma NCIT:C3513, DOID:1107 cancer of esophagus DOID:1107 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 cancer of oesophagus DOID:1107 -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer DOID:5041 esophageal cancer NCIT:C3513 esophageal cancer DOID:5041 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer Orphanet:70567 bile duct cancer DOID:4606 -MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym black death DOID:10773 bubonic plague black death DOID:10773 MONDO:0019118 inherited retinal dystrophy oio:hasExactSynonym oio:hasBroadSynonym fundus dystrophy DOID:8501 fundus dystrophy MONDO:0004590 fundus dystrophy DOID:8501 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Hematoporphyria DOID:13268 porphyria DOID:13268 Hematoporphyria DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Porphyrinopathy DOID:13268 porphyria DOID:13268 Porphyrinopathy DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin metabolism DOID:13268 porphyria ICD9CM:277.1, DOID:13268 disorder of porphyrin metabolism DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria DOID:13268 porphyria DOID:13268 porphyria DOID:13268 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency Orphanet:743 severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency DOID:0080217 lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency DOID:0080217 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD DOID:14502 cholesterol ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 CESD DOID:14502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Feminisation - testicular DOID:4674 androgen insensitivity syndrome DOID:4674 Feminisation - testicular DOID:4674 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym oio:hasNarrowSynonym pericentral pigmentary retinopathy DOID:10584 retinitis pigmentosa DOID:10584 pericentral pigmentary retinopathy DOID:10584 MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate metabolic disorder DOID:2978 carbohydrate metabolic disorder DOID:2978 carbohydrate metabolic disorder DOID:2978 MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency DOID:0050731 vitamin B12 deficiency DOID:0050731 cobalamin deficiency DOID:0050731 MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym hypocobalaminemia DOID:0050731 vitamin B12 deficiency DOID:0050731 hypocobalaminemia DOID:0050731 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome DOID:905 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome DOID:905 MONDO:0019245 lysosomal lipid storage disorder oio:hasExactSynonym oio:hasRelatedSynonym lipoidosis DOID:9455 lipid storage disease DOID:9455 lipoidosis DOID:9455 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym purine-pyrimidine metabolic disorder DOID:653 purine-pyrimidine metabolic disorder DOID:653 purine-pyrimidine metabolic disorder DOID:653 MONDO:0019269 ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym non-syndromic ichthyosis DOID:1697 ichthyosis DOID:1697 non-syndromic ichthyosis DOID:1697 @@ -4451,9 +3900,7 @@ MONDO:0019345 shigellosis oio:hasExactSynonym oio:hasNarrowSynonym Shigella sonn MONDO:0019349 Sotos syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOTOS1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:117550, MONDO:Lexical SOTOS1 DOID:0112103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019353 Stargardt disease oio:hasExactSynonym oio:hasNarrowSynonym Stargardt disease 1 Stargardt disease 1 STARGARDT DISEASE 1 DOID:0050817 Stargardt disease DOID:0050817 Stargardt disease 1 DOID:0050817 MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym Tick typhus DOID:0050052 Rocky Mountain spotted fever DOID:0050052 Tick typhus DOID:0050052 -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym oio:hasBroadSynonym typhus DOID:11256 typhus Wikipedia:Typhus typhus DOID:11256 MONDO:0019365 scrub typhus oio:hasRelatedSynonym oio:hasExactSynonym tsutsugamushi fever tsutsugamushi fever Tsutsugamushi fever DOID:13371 scrub typhus DOID:13371, Orphanet:83317 tsutsugamushi fever DOID:13371 -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy DOID:1811 reflex sympathetic dystrophy GARD:0004647 reflex sympathetic dystrophy DOID:1811 MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma soft tissue Perineurioma DOID:4697 perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma DOID:4697 MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Light chain amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 Light chain amyloidosis DOID:0080933 MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis primary systemic amyloidosis primary systemic Amyloidosis primary systemic DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 amyloidosis primary systemic DOID:0080933 @@ -4466,10 +3913,8 @@ MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedS MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect DOID:0111073 progressive familial heart block Orphanet:871, DOID:0111073 hereditary bundle branch defect DOID:0111073 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic deafness DOID:0050563 nonsyndromic deafness DOID:0050563 nonsyndromic deafness DOID:0050563 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic hearing loss DOID:0050563 nonsyndromic deafness MONDO:patterns/isolated, DOID:0050563 nonsyndromic hearing loss DOID:0050563 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis DOID:14447 gonadal dysgenesis NCIT:C26900 gonadal dysgenesis DOID:14447 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome DOID:3491 Turner syndrome DOID:3491 Bonnevie-Ullrich syndrome DOID:3491 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X DOID:3491 Turner syndrome DOID:3491, NCIT:C36630 monosomy X DOID:3491 -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome DOID:0110829 retinitis pigmentosa-deafness syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome DOID:0110829 MONDO:0019508 van der Woude syndrome oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome DOID:0060239 Van der Woude syndrome DOID:0060239, Orphanet:888 lip-pit syndrome DOID:0060239 MONDO:0019514 hepatic veno-occlusive disease oio:hasExactSynonym oio:hasRelatedSynonym veno-occlusive disease DOID:0080177 hepatic veno-occlusive disease DOID:0080177 veno-occlusive disease DOID:0080177 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular hemophilia DOID:12531 von Willebrand's disease DOID:12531 vascular hemophilia DOID:12531 @@ -4483,15 +3928,8 @@ MONDO:0019586 X-linked nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarr MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant deafness DOID:0050564 autosomal dominant nonsyndromic deafness DOID:0050564 autosomal dominant deafness DOID:0050564 MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness DOID:0050564 autosomal dominant nonsyndromic deafness https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900 autosomal dominant nonsyndromic deafness DOID:0050564 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness DOID:0050565 autosomal recessive nonsyndromic deafness OMIM:607197 autosomal recessive nonsyndromic deafness DOID:0050565 -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma DOID:5577 gastrinoma Orphanet:913 gastrinoma DOID:5577 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 Orphanet:93359 spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 SEMDJL1 DOID:0112198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 acromesomelic dwarfism DOID:0080051 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome Mulchandani-Bhoj-Conlin syndrome DOID:0111714 Mulchandani-Bhoj-Conlin syndrome OMIM:617352 MULCHANDANI-BHOJ-CONLIN syndrome DOID:0111714 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS DOID:0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 MBCS DOID:0111714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019933 acromegaly oio:hasExactSynonym oio:hasRelatedSynonym somatotroph adenoma somatotroph adenoma Somatotroph adenoma DOID:6255 growth hormone secreting pituitary adenoma GARD:0005725 somatotroph adenoma DOID:6255 -MONDO:0019952 congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym Batten Turner congenital myopathy DOID:2106 myotonia congenita GARD:0005898 Batten Turner congenital myopathy DOID:2106 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera DOID:6977 pancreatic cholera GARD:0003787, Orphanet:97282 pancreatic cholera DOID:6977 MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27350, DOID:2226 CMPD, U DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020213 stromal corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym stromal dystrophy DOID:0060442 stromal dystrophy DOID:0060442 stromal dystrophy DOID:0060442 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect DOID:0050651 atrioventricular septal defect DOID:0050651 atrioventricular canal defect DOID:0050651 @@ -4501,47 +3939,28 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal B-cell lymphoma DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma DOID:0050593 primary congenital glaucoma Orphanet:98976 primary congenital glaucoma DOID:0050593 MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia DOID:1441 spinocerebellar ataxia DOID:1441 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency DOID:0111165 molybdenum cofactor deficiency OMIMPS:252150 molybdenum cofactor deficiency DOID:0111165 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 Cree leukoencephalopathy DOID:0070367 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL DOID:0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 B-ALL DOID:0080630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B acute lymphoblastic leukemia DOID:0080638 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B-cell acute lymphoblastic leukemia DOID:0080638 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphocytic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B-cell acute lymphocytic leukemia DOID:0080638 MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym oio:hasRelatedSynonym spermatocytoma DOID:5834 spermatocytoma DOID:5834 spermatocytoma DOID:5834 MONDO:0020533 streptobacillary rat-bite fever oio:hasRelatedSynonym oio:hasExactSynonym streptobacillary rat-bite fever streptobacillary rat-bite fever Streptobacillary rat-bite fever DOID:13238 Haverhill fever DOID:13238 streptobacillary rat-bite fever DOID:13238 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 OMIM:312870 Golabi-Rosen syndrome DOID:0060248 -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis OMIM:207410 trapezoidocephaly-synostosis Syndrome DOID:0050462 -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym XGPT deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 XGPT deficiency DOID:0050802 -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 xylosylprotein 4-Beta-galactosyltransferase deficiency DOID:0050802 -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis DOID:0050568 -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysplasia DOID:0050568 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym SCDO1 DOID:0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277300 SCDO1 DOID:0112365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020717 autosomal dominant wooly hair oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194300 ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 cavernous angiomatous malformations DOID:0060669 -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 cerebral capillary malformations DOID:0060669 MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 DOID:0111498 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 COXPD22 DOID:0111498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome DOID:12169 carpal tunnel syndrome OMIM:115430 carpal tunnel syndrome DOID:12169 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, MONDO:Lexical ACTH-independent macronodular adrenal hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662, Orphanet:189427 ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662 adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, GARD:0010824, MESH:C565662 corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH1 DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:219080, MESH:C565662 AIMAH1 DOID:0111623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym OPA10 DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 OPA10 DOID:0111434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020738 multiple benign circumferential skin creases on limbs 1 oio:hasExactSynonym oio:hasRelatedSynonym CSCSC1 DOID:0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156610 CSCSC1 DOID:0112242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 AASA dehydrogenase deficiency DOID:0070519 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy OMIM:266100 pyridoxine-dependent epilepsy DOID:0080768 MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAN3 DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618387 SCAN3 DOID:0070465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy Meesmann corneal dystrophy DOID:0060451 Meesmann corneal dystrophy OMIM:122100 Meesmann Corneal Dystrophy DOID:0060451 -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy DOID:0081296 oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy DOID:0081296 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of classic hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 symptomatic form of classic hemochromatosis DOID:0111029 MONDO:0021003 polydactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly DOID:1148 polydactyly DOID:1148 postaxial polydactyly DOID:1148 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome Aarskog syndrome DOID:0111824 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome faciogenital dysplasia DOID:0111824 -MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome Aarskog-Scott syndrome DOID:6683 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome AMISH BRITTLE HAIR BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 Amish brittle hair brain syndrome DOID:0050528 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 BIDS syndrome DOID:0050528 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym hair-brain syndrome hair-brain syndrome HAIR-BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 hair-brain syndrome DOID:0050528 @@ -4551,9 +3970,7 @@ MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia DOID:0060695 hyperekplexia Orphanet:3197 hyperekplexia DOID:0060695 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985, NCIT:C7135 extraosseous Ewing's tumor DOID:4985 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewing's tumour DOID:4985 -MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis OMIM:175100 adenomatous polyposis of the colon DOID:0050424 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm DOID:170 endocrine gland cancer DOID:170 endocrine neoplasm DOID:170 -MONDO:0021093 cranioectodermal dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Sensenbrenner syndrome DOID:0050577 cranioectodermal dysplasia OMIM:218330 Sensenbrenner syndrome DOID:0050577 MONDO:0021097 intraductal breast papilloma oio:hasExactSynonym oio:hasRelatedSynonym breast duct papilloma DOID:1626 breast duct papilloma DOID:1626 breast duct papilloma DOID:1626 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor http://purl.obolibrary.org/obo/OMO_0003005 appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 @@ -4563,7 +3980,6 @@ MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasRelatedSynonym acute-on-chronic respiratory failure DOID:11162 respiratory failure DOID:11162 acute-on-chronic respiratory failure DOID:11162 MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym chronic respiratory failure DOID:11162 respiratory failure DOID:11162 chronic respiratory failure DOID:11162 MONDO:0021118 intestinal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym intestinal benign neoplasm DOID:4610 intestinal benign neoplasm DOID:4610 intestinal benign neoplasm DOID:4610 -MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym nanophthalmos DOID:0080634 nanophthalmos DOID:10629 nanophthalmos DOID:0080634 MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos DOID:10629 microphthalmia DOID:10629 microphthalmos DOID:10629 MONDO:0021259 prostate neoplasm oio:hasExactSynonym oio:hasRelatedSynonym nodular prostate DOID:13206 nodular prostate nodular prostate DOID:13206 MONDO:0021553 transverse myelitis oio:hasExactSynonym oio:hasRelatedSynonym Transverse Myelitis Transverse Myelitis transverse myelitis DOID:0080743 transverse myelitis MESH:D009188 Transverse Myelitis DOID:0080743 @@ -4573,12 +3989,10 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym scapuloilioperoneal atrophy with cardiopathy DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 OMIM:181350 scapuloilioperoneal atrophy with cardiopathy DOID:0070247 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMD2 DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181350 EMD2 DOID:0070247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum astrocytoma of Cerebrum DOID:3069 malignant astrocytoma DOID:3069 astrocytoma of cerebrum DOID:3069 -MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym oio:hasRelatedSynonym sex cord stromal tumour sex cord stromal tumour Sex cord stromal tumour DOID:192 sex cord-gonadal stromal tumor http://purl.obolibrary.org/obo/OMO_0003005 sex cord stromal tumour DOID:192 MONDO:0022687 cerebellar degeneration oio:hasExactSynonym oio:hasRelatedSynonym cerebral degeneration DOID:1443 cerebral degeneration DOID:1443 cerebral degeneration DOID:1443 MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational Asthma Occupational Asthma occupational asthma DOID:0080820 occupational asthma MESH:D059366 Occupational Asthma DOID:0080820 MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational asthma Occupational asthma occupational asthma DOID:0080820 occupational asthma UMLS:C0264423 Occupational asthma DOID:0080820 MONDO:0023069 enlarged vestibular aqueduct syndrome oio:hasExactSynonym oio:hasRelatedSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct DOID:0050332 -MONDO:0023419 hyperprolinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolinemia type 1 DOID:0080542 hyperprolinemia type 1 GARD:0002847 hyperprolinemia type 1 DOID:0080542 MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine ductal carcinoma of skin eccrine ductal carcinoma of skin Eccrine ductal carcinoma of skin DOID:5570 malignant acrospiroma DOID:5570 eccrine ductal carcinoma of skin DOID:5570 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 2 DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 MONDO:0024268 superficial mycosis oio:hasExactSynonym oio:hasNarrowSynonym piedra DOID:0050133 superficial mycosis DOID:0050133 piedra DOID:0050133 @@ -4587,12 +4001,7 @@ MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolactinemia DOID:12700 hyperprolactinemia DOID:12700 hyperprolactinemia DOID:12700 MONDO:0024306 acquired lactic acidosis oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis DOID:3650 lactic acidosis DOID:3650 lactic acidosis DOID:3650 MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExactSynonym oio:hasRelatedSynonym hereditary sensory and autonomic neuropathy type 2A DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large intestine cancer DOID:5672 large intestine cancer NCIT:C2955 large intestine cancer DOID:5672 -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym colorectal cancer DOID:9256 colorectal cancer NCIT:C2955 colorectal cancer DOID:9256 MONDO:0024336 vulvar adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma DOID:2098, NCIT:C6380 adenocarcinoma of the vulva DOID:2098 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism DOID:0060254 Robinow syndrome OMIM:180700 Robinow dwarfism DOID:0060254 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities DOID:0060254 Robinow syndrome OMIM:180700 acral dysostosis with Facial and genital abnormalities DOID:0060254 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome DOID:0060254 Robinow syndrome OMIM:180700 fetal face syndrome DOID:0060254 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasBroadSynonym Seitelberger disease Seitelberger disease Seitelberger Disease DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#DEPRECATED Orphanet:35069, OMIM:256600, DOID:0110735 Seitelberger disease DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym INAD1 DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256600, Orphanet:35069 INAD1 DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024472 boutonneuse fever oio:hasExactSynonym oio:hasBroadSynonym Rickettsia conorii spotted fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 Rickettsia conorii spotted fever DOID:14095 @@ -4602,39 +4011,24 @@ MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Kenyan MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean spotted fever DOID:14095 boutonneuse fever DOID:14095, PMID:18760001, Orphanet:83313 Mediterranean spotted fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean tick fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 Mediterranean tick fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym boutonneuse disease boutonneuse disease Boutonneuse disease DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 boutonneuse disease DOID:14095 -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia DOID:12271 aniridia OMIM:106210, OMIM:genemap2 aniridia DOID:12271 -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym bathing epilepsy DOID:0081104 hot water epilepsy OMIM:613339 bathing epilepsy DOID:0081104 -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym water immersion epilepsy DOID:0081104 hot water epilepsy OMIM:613339 water immersion epilepsy DOID:0081104 -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease DOID:62 aortic valve disease OMIM:109730 aortic valve disease DOID:62 -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome OMIM:134600 adult Fanconi syndrome DOID:1062 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222470 THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia, VLDLR-associated DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 OMIM:224050 cerebellar hypoplasia, VLDLR-associated DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:224050 CAMRQ1 DOID:0070556 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy DOID:0070198 Miyoshi muscular dystrophy OMIM:254130 Miyoshi myopathy DOID:0070198 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130 MIYOSHI muscular dystrophy 1 DOID:0070199 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254130 MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin DOID:0060283 peeling skin syndrome OMIM:270300 deciduous skin DOID:0060283 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 DOID:0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 DOID:0070520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD Fmd FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 DOID:0111786 frontometaphyseal dysplasia 1 OMIM:305620 FRONTOMETAPHYSEAL dysplasia 1 DOID:0111786 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 DOID:0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD1 DOID:0111786 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym Midas syndrome Midas syndrome MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801 Midas syndrome DOID:0111808 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 MLASA1 DOID:0111185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 D-2-hydroxyglutaric aciduria DOID:0050575 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 D2HGA1 DOID:0111351 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasBroadSynonym megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:genemap2, OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Van Der Knaap disease DOID:0080316 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with swelling and cysts DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 leukoencephalopathy with swelling and cysts DOID:0080316 MONDO:0024566 febrile seizures, familial, 11 oio:hasExactSynonym oio:hasRelatedSynonym FEB11 DOID:0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614418 FEB11 DOID:0111308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024609 vulvar squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of vulva DOID:2101 vulva squamous cell carcinoma DOID:2101, NCIT:C4052 squamous cell carcinoma of vulva DOID:2101 MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym islet cell adenoma islet cell adenoma Islet cell adenoma DOID:3892 insulinoma DOID:3892 islet cell adenoma DOID:3892 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor Orphanet:66627 tenosynovial giant cell tumor DOID:314 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumour DOID:314 tenosynovial giant cell tumor http://purl.obolibrary.org/obo/OMO_0003005 tenosynovial giant cell tumour DOID:314 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym villonodular synovitis DOID:9898 villonodular synovitis DOID:9898 villonodular synovitis DOID:9898 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor DOID:6755 amyloid tumor DOID:6755 amyloid tumor DOID:6755 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumour DOID:6755 amyloid tumor http://purl.obolibrary.org/obo/OMO_0003005 amyloid tumour DOID:6755 @@ -4655,7 +4049,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 X-Linked immunodeficiency 74 OMIM:301051 respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 DOID:0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 IMD74 DOID:0112063 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 DOID:0070075 9q-syndrome DOID:0060352 -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome DOID:0070075 Kleefstra syndrome DOID:0080597 MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IID DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIC DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 MONDO:0027676 congenital anomalies of kidney and urinary tract 2 oio:hasExactSynonym oio:hasRelatedSynonym CAKUT2 DOID:0080207 CAKUT2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143400, DOID:0080207 CAKUT2 DOID:0080207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4670,7 +4063,6 @@ MONDO:0029147 spermatogenic failure 33 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPERMATOGENIC FAILURE 34 SPERMATOGENIC FAILURE 34 spermatogenic failure 34 DOID:0111911 spermatogenic failure 34 OMIM:618153 SPERMATOGENIC FAILURE 34 DOID:0111911 MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPGF34 DOID:0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618153 SPGF34 DOID:0111911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 DOID:0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 DFNA77 DOID:0112168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure DOID:0111910 spermatogenic failure OMIM:619145, OMIM:genemap2 spermatogenic failure DOID:0111910 MONDO:0030906 Trichomonas tenax infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas tenax trichomoniasis DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation 106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0080240 X-linked mental retardation 106 DOID:0080240 MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym MRX106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 MRX106 DOID:0080240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4874,14 +4266,10 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 4 with or without hepatic disease DOID:0080212 polycystic kidney disease 4 OMIM:263200 polycystic kidney disease 4 with or without hepatic disease DOID:0080212 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 OMIM:263200 polycystic kidney disease, autosomal recessive DOID:0080212 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 DOID:0080212 -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease OMIM:263200 polycystic kidney and hepatic disease 1 DOID:898 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 Galloway syndrome DOID:0060364 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 nephrosis-microcephaly syndrome DOID:0060364 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 nephrosis-neuronal dysmigration syndrome DOID:0060364 MONDO:0033006 Galloway-Mowat syndrome 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Galloway-Mowat syndrome 2 DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym Greither disease Greither disease Greither Disease DOID:0050467 erythrokeratodermia variabilis OMIM:133200 Greither disease DOID:0050467 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis OMIM:133200 erythrokeratodermia variabilis DOID:0050467 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis et progressiva 1 DOID:0111195 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis ET progressiva 1 DOID:0111195 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 DOID:0080248 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis ET progressiva 2 DOID:0080248 MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis ET progressiva 3 DOID:0080249 @@ -4972,7 +4360,6 @@ MONDO:0049223 osteogenesis imperfecta, type 19 oio:hasExactSynonym oio:hasRelate MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG IIq CDG Iiq CDG IIq DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 CDG IIq DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG2Q DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 CDG2Q DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, Menger type DOID:0050640 -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia OMIM:607095 anauxetic dysplasia DOID:0080942 MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym primary autosomal dominant microcephaly 18 DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MCPH18 DOID:0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617520 MCPH18 DOID:0070295 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054601 pituitary adenoma 5, multiple types oio:hasExactSynonym oio:hasRelatedSynonym PITA5 DOID:0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617540 PITA5 DOID:0112008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5004,12 +4391,9 @@ MONDO:0054731 spermatogenic failure 27 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054732 spermatogenic failure 28 oio:hasExactSynonym oio:hasRelatedSynonym SPGF28 DOID:0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618086 SPGF28 DOID:0111916 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054733 spermatogenic failure 29 oio:hasExactSynonym oio:hasRelatedSynonym SPGF29 DOID:0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618091 SPGF29 DOID:0111930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054736 mosaic variegated aneuploidy syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 3 MOSAIC variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome 3 DOID:0080689 mosaic variegated aneuploidy syndrome 3 OMIM:617598 MOSAIC variegated aneuploidy syndrome 3 DOID:0080689 -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome DOID:0090001 Fraser syndrome OMIM:219000 Fraser syndrome DOID:0090001 -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations DOID:0090001 Fraser syndrome OMIM:219000 cryptophthalmos with Other malformations DOID:0090001 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 DOID:0111405 Fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 FRASRS1 DOID:0111405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 DOID:0111407 Fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 FRASRS2 DOID:0111407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 DOID:0111406 Fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 FRASRS3 DOID:0111406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome DOID:0080344 blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome DOID:0080344 MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 DOID:0111497 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 COXPD34 DOID:0111497 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 DOID:0111464 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 COXPD35 DOID:0111464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054781 combined oxidative phosphorylation deficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym COXPD36 DOID:0111482 combined oxidative phosphorylation deficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617950 COXPD36 DOID:0111482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5023,7 +4407,6 @@ MONDO:0054831 Coffin-Siris syndrome 7 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 Charcot-Marie-Tooth neuropathy, type 2Dd DOID:0111558 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease, axonal, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 Charcot-Marie-tooth disease, axonal, type 2DD DOID:0111558 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 CMT2DD DOID:0111558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome DOID:0070487 dopamine transporter deficiency syndrome OMIM:613135 dopamine transporter deficiency syndrome DOID:0070487 MONDO:0054843 ciliary dyskinesia, primary, 38 oio:hasExactSynonym oio:hasRelatedSynonym CILD38 DOID:0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618063 CILD38 DOID:0111852 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054844 pontocerebellar hypoplasia, type 1D oio:hasExactSynonym oio:hasRelatedSynonym PCH1D DOID:0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618065 PCH1D DOID:0112323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054846 epilepsy, familial adult myoclonic, 6 oio:hasExactSynonym oio:hasRelatedSynonym benign Adult Familial myoclonic epilepsy 6 benign Adult Familial myoclonic epilepsy 6 benign adult familial myoclonic epilepsy 6 DOID:0111696 familial adult myoclonic epilepsy 6 OMIM:618074 benign Adult Familial myoclonic epilepsy 6 DOID:0111696 @@ -5053,11 +4436,7 @@ MONDO:0100096 COVID-19 oio:hasExactSynonym oio:hasRelatedSynonym 2019 novel coro MONDO:0100130 adult acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ARDS DOID:11394 adult respiratory distress syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ORCID:0000-0002-2825-0621 ARDS DOID:11394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency DOID:0112225 BH4-deficient hyperphenylalaninemia B OMIM:233910 GTP cyclohydrolase 1 deficiency DOID:0112225 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym HPABH4B DOID:0112225 BH4-deficient hyperphenylalaninemia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:233910, MONDO:Lexical HPABH4B DOID:0112225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 oio:hasExactSynonym oio:hasBroadSynonym mitochondrial complex I deficiency DOID:0060536 mitochondrial complex I deficiency OMIM:252010 mitochondrial complex I deficiency DOID:0060536 -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome oio:hasExactSynonym oio:hasBroadSynonym HHS DOID:0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0111063 HHS DOID:0110698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100280 Waldenstrom macroglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym Waldenstroem's macroglobulinemia DOID:0060901 lymphoplasmacytic lymphoma DOID:0060901 Waldenstroem's macroglobulinemia DOID:0060901 -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques Orphanet:659 Olmsted syndrome DOID:0112011 -MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia DOID:12705 Friedreich ataxia OMIM:229300, OMIM:genemap2 Friedreich ataxia DOID:12705 MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial tumor DOID:3070 high grade glioma NCIT:C3059, DOID:3070 neuroglial tumor DOID:3070 MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym oio:hasBroadSynonym DHMN5 dHMN5 DHMN5 DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:139536 DHMN5 DOID:0111203 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic choreoathetosis DOID:0090053 episodic kinesigenic dyskinesia 1 OMIM:128200 paroxysmal kinesigenic choreoathetosis DOID:0090053 @@ -5069,19 +4448,12 @@ MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSy MONDO:0100452 RPE65-related dominant retinopathy oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa 87 with choroidal involvement DOID:0112144 retinitis pigmentosa 87 https://clinicalgenome.org/affiliation/40072/ retinitis pigmentosa 87 with choroidal involvement DOID:0112144 MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym oio:hasRelatedSynonym familiar ovarian carcinoma DOID:6901 familiar ovarian carcinoma DOID:6901 familiar ovarian carcinoma DOID:6901 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease Humeroperoneal neuromuscular disease humeroperoneal neuromuscular disease DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 OMIM:310300 Humeroperoneal neuromuscular disease DOID:0070246 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome DOID:0081073 Teebi hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome DOID:0081073 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 -MONDO:0800029 interstitial lung disease 2 oio:hasRelatedSynonym oio:hasExactSynonym IPF DOID:2797 idiopathic interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178500 IPF DOID:2797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasNarrowSynonym Hamman-rich disease Hamman-rich disease Hamman-Rich disease DOID:2800 acute interstitial pneumonia OMIM:178500 Hamman-rich disease DOID:2800 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy DOID:0060762 restrictive dermopathy Orphanet:1662 restrictive dermopathy DOID:0060762 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym oio:hasRelatedSynonym pascual-Castroviejo syndrome pascual-Castroviejo syndrome Pascual-Castroviejo syndrome DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome GARD:0001210 pascual-Castroviejo syndrome DOID:0081072 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 diphthamide deficiency syndrome OMIM:genemap2, OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome DOID:0070477 diphthamide deficiency syndrome 1 OMIM:616901 Loucks-Innes syndrome DOID:0070477 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 vanishing White matter leukodystrophy DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter DOID:0060868 vanishing white matter leukodystrophy DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH/VWM DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000231 CACH/VWM DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 Cree leukoencephalopathy DOID:0070367 MONDO:0850289 human betaherpesvirus 5 infectious disease oio:hasExactSynonym oio:hasBroadSynonym human cytomegalovirus infection DOID:0080827 human cytomegalovirus infection DOID:0080827 human cytomegalovirus infection DOID:0080827 MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital insufficiency of mitral valve congenital insufficiency of mitral valve Congenital insufficiency of mitral valve DOID:11502 mitral valve insufficiency DOID:11502 congenital insufficiency of mitral valve DOID:11502 MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency DOID:11502 mitral valve insufficiency DOID:11502 congenital mitral insufficiency DOID:11502 diff --git a/src/ontology/reports/sync-synonym/icd10cm.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/icd10cm.synonyms.confirmed.robot.tsv index b72b05f4..d7b731f0 100644 --- a/src/ontology/reports/sync-synonym/icd10cm.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/icd10cm.synonyms.confirmed.robot.tsv @@ -38,8 +38,8 @@ MONDO:0001234 adhesive otitis media oio:hasExactSynonym adhesive middle ear dis MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym polycythemia neonatorum polycythemia neonatorum Polycythemia neonatorum ICD10CM:P61.1 Polycythemia neonatorum polycythemia neonatorum ICD10CM:P61.1 MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K deficiency of vitamin K Deficiency of vitamin K ICD10CM:E56.1 Deficiency of vitamin K deficiency of vitamin K ICD10CM:E56.1 MONDO:0001258 vertebral artery occlusion oio:hasExactSynonym occlusion and stenosis of vertebral artery occlusion and stenosis of vertebral artery Occlusion and stenosis of vertebral artery ICD10CM:I65.0 Occlusion and stenosis of vertebral artery occlusion and stenosis of vertebral artery ICD10CM:I65.0 -MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 +MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 MONDO:0001276 expressive language disorder oio:hasExactSynonym expressive language disorder expressive language disorder Expressive language disorder ICD10CM:F80.1 Expressive language disorder expressive language disorder ICD10CM:F80.1 MONDO:0001286 exotropia oio:hasExactSynonym divergent concomitant strabismus divergent concomitant strabismus Divergent concomitant strabismus ICD10CM:H50.1 Exotropia divergent concomitant strabismus ICD10CM:H50.1 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant neoplasm of subglottis malignant neoplasm of subglottis Malignant neoplasm of subglottis ICD10CM:C32.2 Malignant neoplasm of subglottis malignant neoplasm of subglottis ICD10CM:C32.2 @@ -466,7 +466,6 @@ MONDO:0016295 neuronal ceroid lipofuscinosis oio:hasExactSynonym neuronal ceroi MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym congenital hydrocephalus congenital hydrocephalus Congenital hydrocephalus ICD10CM:Q03 Congenital hydrocephalus congenital hydrocephalus ICD10CM:Q03 MONDO:0017137 onchocerciasis oio:hasExactSynonym Onchocerca volvulus infection Onchocerca volvulus infection onchocerca volvulus infection ICD10CM:B73 Onchocerciasis Onchocerca volvulus infection ICD10CM:B73 MONDO:0017137 onchocerciasis oio:hasExactSynonym onchocerciasis onchocerciasis Onchocerciasis ICD10CM:B73 Onchocerciasis onchocerciasis ICD10CM:B73 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome ICD10CM:D68.61 Antiphospholipid syndrome Antiphospholipid Syndrome ICD10CM:D68.61 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure ICD10CM:E31.0 Autoimmune polyglandular failure autoimmune polyglandular failure ICD10CM:E31.0 MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis ICD10CM:D58.1 Hereditary elliptocytosis ovalocytosis ICD10CM:D58.1 MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella syndrome congenital rubella syndrome Congenital rubella syndrome ICD10CM:P35.0 Congenital rubella syndrome congenital rubella syndrome ICD10CM:P35.0 @@ -476,7 +475,6 @@ MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet r MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher disease ICD10CM:E75.22 Gaucher disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Gaucher disease ICD10CM:E75.22 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym Ritter's disease ICD10CM:L00 Staphylococcal scalded skin syndrome Ritter's disease ICD10CM:L00 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome ICD10CM:L00 Staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome ICD10CM:L00 -MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym pemphigus neonatorum pemphigus neonatorum Pemphigus neonatorum ICD10CM:L01.03 Bullous impetigo pemphigus neonatorum ICD10CM:L01.03 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease ICD10CM:A92.5 Zika virus disease Zika virus disease ICD10CM:A92.5 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus infection ICD10CM:A92.5 Zika virus disease Zika virus infection ICD10CM:A92.5 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired ichthyosis ICD10CM:L85.0 Acquired ichthyosis acquired ichthyosis ICD10CM:L85.0 @@ -505,7 +503,6 @@ MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym heredit MONDO:0019186 Q fever oio:hasExactSynonym infection due to Coxiella burnetii infection due to Coxiella burnetii Infection due to Coxiella burnetii ICD10CM:A78 Q fever infection due to Coxiella burnetii ICD10CM:A78 MONDO:0019186 Q fever oio:hasExactSynonym nine Mile fever nine Mile fever Nine Mile fever ICD10CM:A78 Q fever nine Mile fever ICD10CM:A78 MONDO:0019186 Q fever oio:hasExactSynonym quadrilateral fever quadrilateral fever Quadrilateral fever ICD10CM:A78 Q fever quadrilateral fever ICD10CM:A78 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome ICD10CM:K76.81 Hepatopulmonary syndrome Hepatopulmonary Syndrome ICD10CM:K76.81 MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema hereditary lymphedema Hereditary lymphedema ICD10CM:Q82.0 Hereditary lymphedema hereditary lymphedema ICD10CM:Q82.0 MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome ICD10CM:L10.4 Pemphigus erythematosus Senear-Usher syndrome ICD10CM:L10.4 MONDO:0019345 shigellosis oio:hasExactSynonym shigellosis shigellosis Shigellosis ICD10CM:A03 Shigellosis shigellosis ICD10CM:A03 diff --git a/src/ontology/reports/sync-synonym/icd10cm.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/icd10cm.synonyms.updated.robot.tsv index 332b145a..0e1240fb 100644 --- a/src/ontology/reports/sync-synonym/icd10cm.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/icd10cm.synonyms.updated.robot.tsv @@ -10,7 +10,6 @@ MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American MONDO:0001875 epicondylitis oio:hasExactSynonym oio:hasRelatedSynonym tennis elbow tennis elbow Tennis elbow ICD10CM:M77.1 Lateral epicondylitis DOID:14087 tennis elbow ICD10CM:M77.1 MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym mycoses ICD10CM:B35-B49 Mycoses (B35-B49) DOID:1564 mycoses ICD10CM:B35-B49 MONDO:0002209 heel spur oio:hasExactSynonym oio:hasRelatedSynonym calcaneal spur calcaneal spur Calcaneal spur ICD10CM:M77.3 Calcaneal spur DOID:210, ICD9CM:726.73 calcaneal spur ICD10CM:M77.3 -MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism primary hyperaldosteronism Primary hyperaldosteronism ICD10CM:E26.0 Primary hyperaldosteronism DOID:446 primary hyperaldosteronism ICD10CM:E26.0 MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym sleep disorders sleep disorders Sleep disorders ICD10CM:G47 Sleep disorders MESH:D012893 sleep disorders ICD10CM:G47 MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of anterior surface of epiglottis malignant neoplasm of anterior surface of epiglottis Malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 Malignant neoplasm of anterior surface of epiglottis DOID:8133, MTH:U001374 malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of carotid body malignant neoplasm of carotid body Malignant neoplasm of carotid body ICD10CM:C75.4 Malignant neoplasm of carotid body NCIT:C3574 malignant neoplasm of carotid body ICD10CM:C75.4 @@ -27,7 +26,6 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile keratosis ICD10CM:L57.0 Actinic keratosis NCIT:C3148 senile keratosis ICD10CM:L57.0 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency ICD10CM:N18.9 Chronic kidney disease, unspecified NCIT:C80078 chronic renal insufficiency ICD10CM:N18.9 MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis ICD10CM:G35 Multiple sclerosis DOID:2377 generalized multiple sclerosis ICD10CM:G35 -MONDO:0005518 pseudohermaphroditism oio:hasExactSynonym oio:hasRelatedSynonym indeterminate sex and pseudohermaphroditism indeterminate sex and pseudohermaphroditism Indeterminate sex and pseudohermaphroditism ICD10CM:Q56 Indeterminate sex and pseudohermaphroditism DOID:3765 indeterminate sex and pseudohermaphroditism ICD10CM:Q56 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant neoplasm of renal pelvis ICD10CM:C65 Malignant neoplasm of renal pelvis DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer malignant neoplasm of renal pelvis ICD10CM:C65 MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial palsy ICD10CM:G51.0 Bell's palsy NCIT:C26769 facial palsy ICD10CM:G51.0 MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever ICD10CM:A23 Brucellosis DOID:11077 Malta fever ICD10CM:A23 @@ -52,8 +50,6 @@ MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynony MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, type 2 neurofibromatosis, type 2 Neurofibromatosis, type 2 ICD10CM:Q85.02 Neurofibromatosis, type 2 OMIM:101000 neurofibromatosis, type 2 ICD10CM:Q85.02 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 coarctation of aorta ICD10CM:Q25.1 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 coarctation of aorta ICD10CM:Q25.1 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica ICD10CM:A98.5 Hemorrhagic fever with renal syndrome OMIM:124100 nephropathia epidemica ICD10CM:A98.5 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria vibratory urticaria Vibratory urticaria ICD10CM:L50.4 Vibratory urticaria MESH:C536612 vibratory urticaria ICD10CM:L50.4 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188 autoimmune thyroiditis ICD10CM:E06.3 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis ICD10CM:E06.3 MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris ichthyosis vulgaris Ichthyosis vulgaris ICD10CM:Q80.0 Ichthyosis vulgaris OMIM:146700 ichthyosis vulgaris ICD10CM:Q80.0 @@ -71,7 +67,6 @@ MONDO:0010565 red color blindness oio:hasExactSynonym oio:hasRelatedSynonym prot MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged-RED fibers Myoclonic epilepsy associated with ragged-red fibers ICD10CM:E88.42 MERRF syndrome MONDO:Lexical, OMIM:545000 myoclonic epilepsy associated with ragged-RED fibers ICD10CM:E88.42 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia ICD10CM:A81.83 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA ICD10CM:A81.83 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym FFI ICD10CM:A81.83 Fatal familial insomnia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600072 FFI ICD10CM:A81.83 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011989 leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym post-kala-azar dermal leishmaniasis post-kala-azar dermal leishmaniasis Post-kala-azar dermal leishmaniasis ICD10CM:B55.0 Visceral leishmaniasis DOID:9065 post-kala-azar dermal leishmaniasis ICD10CM:B55.0 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency ICD10CM:E88.01 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency ICD10CM:E88.01 MONDO:0015947 inherited ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital ichthyosis congenital ichthyosis Congenital ichthyosis ICD10CM:Q80 Congenital ichthyosis congenital ichthyosis ICD10CM:Q80 diff --git a/src/ontology/reports/sync-synonym/icd11foundation.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/icd11foundation.synonyms.confirmed.robot.tsv index cbebc4ef..32cf47fd 100644 --- a/src/ontology/reports/sync-synonym/icd11foundation.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/icd11foundation.synonyms.confirmed.robot.tsv @@ -204,7 +204,6 @@ MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym her MONDO:0003783 lymphopenia oio:hasExactSynonym lymphopenia lymphopenia Lymphopenia icd11.foundation:298296736 Lymphopenia lymphopenia icd11.foundation:298296736 MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis conjunctivitis Conjunctivitis icd11.foundation:831696556 Conjunctivitis conjunctivitis icd11.foundation:831696556 MONDO:0003799 conjunctivitis oio:hasExactSynonym inflammation of conjunctiva icd11.foundation:831696556 Conjunctivitis inflammation of conjunctiva icd11.foundation:831696556 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva myositis ossificans progressiva icd11.foundation:2102976705 MONDO:0004126 thyroiditis oio:hasExactSynonym thyroiditis thyroiditis Thyroiditis icd11.foundation:587793334 Thyroiditis thyroiditis icd11.foundation:587793334 MONDO:0004187 nodular fasciitis oio:hasExactSynonym nodular fasciitis nodular fasciitis Nodular fasciitis icd11.foundation:789101380 Nodular fasciitis nodular fasciitis icd11.foundation:789101380 MONDO:0004187 nodular fasciitis oio:hasExactSynonym pseudosarcomatous fasciitis icd11.foundation:789101380 Nodular fasciitis pseudosarcomatous fasciitis icd11.foundation:789101380 @@ -263,14 +262,11 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin lymphoma icd11.fo MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 Peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis icd11.foundation:1871672644 Gastritis gastritis icd11.foundation:1871672644 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic lateral sclerosis icd11.foundation:1982355687 Amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis icd11.foundation:1982355687 -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease icd11.foundation:661720689 Motor neuron disease Lou Gehrig disease icd11.foundation:661720689 MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 Angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 -MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis icd11.foundation:2020673786 Allergic contact dermatitis allergic dermatitis icd11.foundation:2020673786 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis icd11.foundation:215767047 Atopic eczema atopic dermatitis icd11.foundation:215767047 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic eczema atopic eczema Atopic eczema icd11.foundation:215767047 Atopic eczema atopic eczema icd11.foundation:215767047 MONDO:0004981 atrial fibrillation oio:hasExactSynonym atrial fibrillation atrial fibrillation Atrial fibrillation icd11.foundation:171698302 Atrial fibrillation atrial fibrillation icd11.foundation:171698302 MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy icd11.foundation:282225286 Cardiomyopathy cardiomyopathy icd11.foundation:282225286 -MONDO:0005009 congestive heart failure oio:hasExactSynonym weak heart icd11.foundation:1458683894 Heart failure weak heart icd11.foundation:1458683894 MONDO:0005009 congestive heart failure oio:hasExactSynonym congestive heart disease congestive heart disease Congestive heart disease icd11.foundation:2136808878 Congestive heart failure congestive heart disease icd11.foundation:2136808878 MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn disease icd11.foundation:1267652425 Crohn disease Crohn disease icd11.foundation:1267652425 MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn's disease icd11.foundation:1267652425 Crohn disease Crohn's disease icd11.foundation:1267652425 @@ -397,7 +393,6 @@ MONDO:0005774 glanders oio:hasExactSynonym farcy pipes icd11.foundation:15631 MONDO:0005774 glanders oio:hasExactSynonym infection due to Pseudomonas mallei infection due to Pseudomonas mallei Infection due to Pseudomonas mallei icd11.foundation:1563156715 Glanders infection due to Pseudomonas mallei icd11.foundation:1563156715 MONDO:0005777 granuloma inguinale oio:hasExactSynonym donovanosis donovanosis Donovanosis icd11.foundation:764124124 Granuloma inguinale donovanosis icd11.foundation:764124124 MONDO:0005777 granuloma inguinale oio:hasExactSynonym granuloma inguinale granuloma inguinale Granuloma inguinale icd11.foundation:764124124 Granuloma inguinale granuloma inguinale icd11.foundation:764124124 -MONDO:0005800 hordeolum oio:hasExactSynonym Stye icd11.foundation:522397394 Hordeolum externum Stye icd11.foundation:522397394 MONDO:0005802 hymenolepiasis oio:hasExactSynonym dwarf tapeworm infection dwarf tapeworm infection Dwarf tapeworm infection icd11.foundation:2028864113 Hymenolepiasis dwarf tapeworm infection icd11.foundation:2028864113 MONDO:0005802 hymenolepiasis oio:hasExactSynonym hymenolepiasis hymenolepiasis Hymenolepiasis icd11.foundation:2028864113 Hymenolepiasis hymenolepiasis icd11.foundation:2028864113 MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Gammaherpesviral mononucleosis icd11.foundation:760139952 Infectious mononucleosis Gammaherpesviral mononucleosis icd11.foundation:760139952 @@ -464,7 +459,6 @@ MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynon MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym Rosai-Dorfman disease icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease icd11.foundation:1908538383 MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy Sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 MONDO:0006451 thymic carcinoma oio:hasExactSynonym carcinoma of thymus carcinoma of thymus Carcinoma of thymus icd11.foundation:1351671383 Carcinoma of thymus carcinoma of thymus icd11.foundation:1351671383 -MONDO:0006451 thymic carcinoma oio:hasExactSynonym malignant thymoma malignant thymoma Malignant thymoma icd11.foundation:33869057 Malignant thymoma malignant thymoma icd11.foundation:33869057 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym anaplastic carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland anaplastic carcinoma of thyroid gland icd11.foundation:320540024 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated carcinoma of thyroid gland undifferentiated carcinoma of thyroid gland Undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 MONDO:0006497 cerebral palsy oio:hasExactSynonym infantile cerebral palsy icd11.foundation:76906748 Cerebral palsy infantile cerebral palsy icd11.foundation:76906748 @@ -483,9 +477,6 @@ MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym acne inversa acne in MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym hidradenitis suppurativa hidradenitis suppurativa Hidradenitis suppurativa icd11.foundation:1621794154 Hidradenitis suppurativa hidradenitis suppurativa icd11.foundation:1621794154 MONDO:0006563 inverted follicular keratosis oio:hasExactSynonym inverted follicular keratosis inverted follicular keratosis Inverted follicular keratosis icd11.foundation:2109084329 Inverted follicular keratosis inverted follicular keratosis icd11.foundation:2109084329 MONDO:0006572 lichen planus oio:hasExactSynonym lichen ruber planus lichen ruber planus Lichen ruber planus icd11.foundation:1402978031 Lichen planus lichen ruber planus icd11.foundation:1402978031 -MONDO:0006580 miliaria oio:hasExactSynonym heat rash heat rash Heat rash icd11.foundation:1245016385 Miliaria rubra heat rash icd11.foundation:1245016385 -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat prickly heat Prickly heat icd11.foundation:1245016385 Miliaria rubra prickly heat icd11.foundation:1245016385 -MONDO:0006581 miliaria rubra oio:hasExactSynonym sudamina sudamina Sudamina icd11.foundation:796835029 Miliaria crystallina sudamina icd11.foundation:796835029 MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica necrobiosis lipoidica Necrobiosis lipoidica icd11.foundation:655608138 Necrobiosis lipoidica necrobiosis lipoidica icd11.foundation:655608138 MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis circinata icd11.foundation:919892859 Pityriasis rosea Pityriasis circinata icd11.foundation:919892859 MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis rosea icd11.foundation:919892859 Pityriasis rosea Pityriasis rosea icd11.foundation:919892859 @@ -521,8 +512,6 @@ MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarco MONDO:0006866 neonatal myasthenia gravis oio:hasExactSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis neonatal myasthenia gravis icd11.foundation:1274860004 MONDO:0006881 orbital cellulitis oio:hasExactSynonym orbital cellulitis orbital cellulitis Orbital cellulitis icd11.foundation:1330743591 Orbital cellulitis orbital cellulitis icd11.foundation:1330743591 MONDO:0006907 pilar sheath acanthoma oio:hasExactSynonym Pilar sheath acanthoma icd11.foundation:281473034 Pilar sheath acanthoma Pilar sheath acanthoma icd11.foundation:281473034 -MONDO:0006941 rat-bite fever oio:hasExactSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis spirillosis icd11.foundation:1104357482 -MONDO:0006941 rat-bite fever oio:hasExactSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis Streptobacillosis icd11.foundation:614000128 MONDO:0006950 retinal vasculitis oio:hasExactSynonym retinal vasculitis retinal vasculitis Retinal vasculitis icd11.foundation:1863208483 Retinal vasculitis retinal vasculitis icd11.foundation:1863208483 MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym Terry syndrome icd11.foundation:947283385 Retinopathy of prematurity Terry syndrome icd11.foundation:947283385 MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym retrolental fibroplasia retrolental fibroplasia Retrolental fibroplasia icd11.foundation:947283385 Retinopathy of prematurity retrolental fibroplasia icd11.foundation:947283385 @@ -577,7 +566,6 @@ MONDO:0007113 Angelman syndrome oio:hasExactSynonym Angelman syndrome icd11.f MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym hereditary neurocutaneous angioma hereditary neurocutaneous angioma Hereditary neurocutaneous angioma icd11.foundation:182579434 Hereditary neurocutaneous angioma hereditary neurocutaneous angioma icd11.foundation:182579434 MONDO:0007125 ankyloglossia oio:hasExactSynonym ankyloglossia ankyloglossia Ankyloglossia icd11.foundation:1838543063 Ankyloglossia ankyloglossia icd11.foundation:1838543063 MONDO:0007128 annular erythema oio:hasExactSynonym annular erythema annular erythema Annular erythema icd11.foundation:958930318 Annular erythema annular erythema icd11.foundation:958930318 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym pulmonary venolobar syndrome icd11.foundation:1321054364 Scimitar syndrome pulmonary venolobar syndrome icd11.foundation:1321054364 MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym total anomalous pulmonary venous return icd11.foundation:1532925990 Total anomalous pulmonary venous connection total anomalous pulmonary venous return icd11.foundation:1532925990 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome icd11.foundation:66554749 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Townes-Brocks syndrome icd11.foundation:66554749 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congenita aplasia cutis congenita Aplasia cutis congenita icd11.foundation:350175828 Aplasia cutis congenita aplasia cutis congenita icd11.foundation:350175828 @@ -620,7 +608,6 @@ MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome icd11.f MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome icd11.foundation:1249656206 Alagille syndrome Alagille-Watson syndrome icd11.foundation:1249656206 MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia icd11.foundation:1249656206 Alagille syndrome Arteriohepatic dysplasia icd11.foundation:1249656206 MONDO:0007318 Alagille syndrome oio:hasExactSynonym syndromic bile duct paucity syndromic bile duct paucity Syndromic bile duct paucity icd11.foundation:1249656206 Alagille syndrome syndromic bile duct paucity icd11.foundation:1249656206 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym popliteal web syndrome popliteal web syndrome Popliteal web syndrome icd11.foundation:543218573 Popliteal pterygium syndrome popliteal web syndrome icd11.foundation:543218573 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate cleft soft palate Cleft soft palate icd11.foundation:797497023 Cleft soft palate cleft soft palate icd11.foundation:797497023 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum cleft velum Cleft velum icd11.foundation:797497023 Cleft soft palate cleft velum icd11.foundation:797497023 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum palatinum cleft velum palatinum Cleft velum palatinum icd11.foundation:797497023 Cleft soft palate cleft velum palatinum icd11.foundation:797497023 @@ -640,7 +627,6 @@ MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym recurr MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome coxoauricular syndrome Coxoauricular syndrome icd11.foundation:649449912 Coxoauricular syndrome coxoauricular syndrome icd11.foundation:649449912 MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome icd11.foundation:1355682887 Craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome icd11.foundation:1355682887 MONDO:0007398 craniorhiny oio:hasExactSynonym craniorhiny craniorhiny Craniorhiny icd11.foundation:853619848 Craniorhiny craniorhiny icd11.foundation:853619848 -MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym 5p partial monosomy syndrome icd11.foundation:1109271336 Deletions of the short arm of chromosome 5 5p partial monosomy syndrome icd11.foundation:1109271336 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym Cri-du-chat syndrome icd11.foundation:620584190 Cri-du-chat syndrome Cri-du-chat syndrome icd11.foundation:620584190 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 Beare-Stevenson cutis gyrata syndrome Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 MONDO:0007414 Gorham-Stout disease oio:hasExactSynonym Gorham-Stout disease icd11.foundation:1318015458 Gorham-Stout disease Gorham-Stout disease icd11.foundation:1318015458 @@ -652,7 +638,6 @@ MONDO:0007417 Darier disease oio:hasExactSynonym Keratosis Follicularis Keratos MONDO:0007417 Darier disease oio:hasExactSynonym keratosis follicularis keratosis follicularis Keratosis follicularis icd11.foundation:643994486 Darier disease keratosis follicularis icd11.foundation:643994486 MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus dens evaginatus Dens evaginatus icd11.foundation:474468588 Dens evaginatus dens evaginatus icd11.foundation:474468588 MONDO:0007446 dermatosis papulosa nigra oio:hasExactSynonym dermatosis papulosa nigra dermatosis papulosa nigra Dermatosis papulosa nigra icd11.foundation:168986957 Dermatosis papulosa nigra dermatosis papulosa nigra icd11.foundation:168986957 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym vasopressin deficiency icd11.foundation:1009553897 Central diabetes insipidus vasopressin deficiency icd11.foundation:1009553897 MONDO:0007489 dysplasia epiphysealis hemimelica oio:hasExactSynonym dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica icd11.foundation:1995096940 Dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica icd11.foundation:1995096940 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym Rapp-Hodgkin syndrome icd11.foundation:1455333054 Rapp-Hodgkin syndrome Rapp-Hodgkin syndrome icd11.foundation:1455333054 MONDO:0007515 ectopia pupillae oio:hasExactSynonym ectopia pupillae ectopia pupillae Ectopia pupillae icd11.foundation:70138444 Ectopia pupillae ectopia pupillae icd11.foundation:70138444 @@ -751,8 +736,8 @@ MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lup MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic lupus erythematosus icd11.foundation:749596428 Systemic lupus erythematosus systemic lupus erythematosus icd11.foundation:749596428 MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow nail syndrome icd11.foundation:47812081 Yellow nail syndrome yellow nail syndrome icd11.foundation:47812081 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) Myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym Marcus-Gunn syndrome icd11.foundation:590216180 Marcus-Gunn syndrome Marcus-Gunn syndrome icd11.foundation:590216180 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome icd11.foundation:236564145 Marfan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marfan syndrome icd11.foundation:236564145 MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome icd11.foundation:1401051186 Marshall syndrome Marshall syndrome icd11.foundation:1401051186 @@ -771,8 +756,6 @@ MONDO:0008015 motion sickness oio:hasExactSynonym motion sickness motion sickne MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome Muir-Torre syndrome icd11.foundation:229304403 MONDO:0008039 tropical spastic paraparesis oio:hasExactSynonym tropical spastic paraplegia icd11.foundation:1043229589 Human T-cell lymphotropic virus-associated myelopathy tropical spastic paraplegia icd11.foundation:1043229589 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis icd11.foundation:1428089375 Juvenile dermatomyositis juvenile dermatomyositis icd11.foundation:1428089375 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy icd11.foundation:192087511 Myotonic dystrophy Myotonic Dystrophy icd11.foundation:192087511 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica icd11.foundation:192087511 Myotonic dystrophy dystrophia myotonica icd11.foundation:192087511 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert disease icd11.foundation:557405480 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert myotonic dystrophy syndrome icd11.foundation:557405480 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert syndrome icd11.foundation:557405480 @@ -815,7 +798,6 @@ MONDO:0008221 prolidase deficiency oio:hasExactSynonym hyperimidodipeptiduria h MONDO:0008221 prolidase deficiency oio:hasExactSynonym prolidase deficiency prolidase deficiency Prolidase deficiency icd11.foundation:1416203271 Prolidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL prolidase deficiency icd11.foundation:1416203271 MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym adynamia episodica hereditaria icd11.foundation:1308452752 Hyperkalaemic periodic paralysis adynamia episodica hereditaria icd11.foundation:1308452752 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A icd11.foundation:1689268035 Multiple endocrine neoplasia type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A icd11.foundation:1689268035 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym Sipple syndrome icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 Sipple syndrome icd11.foundation:1837913809 MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism icd11.foundation:2089421143 Piebaldism piebaldism icd11.foundation:2089421143 MONDO:0008260 Kindler syndrome oio:hasExactSynonym Kindler syndrome icd11.foundation:726317303 Kindler syndrome Kindler syndrome icd11.foundation:726317303 MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly icd11.foundation:1364451323 Poland syndrome Poland anomaly icd11.foundation:1364451323 @@ -962,7 +944,6 @@ MONDO:0008797 anodontia oio:hasExactSynonym complete absence of teeth icd11.f MONDO:0008797 anodontia oio:hasExactSynonym developmental absence of tooth icd11.foundation:413433873 Anodontia developmental absence of tooth icd11.foundation:413433873 MONDO:0008797 anodontia oio:hasExactSynonym total anodontia of permanent and deciduous teeth icd11.foundation:413433873 Anodontia total anodontia of permanent and deciduous teeth icd11.foundation:413433873 MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym familial apolipoprotein C-II deficiency familial apolipoprotein C-II deficiency Familial apolipoprotein C-II deficiency icd11.foundation:877401371 Familial apolipoprotein C-II deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial apolipoprotein C-II deficiency icd11.foundation:877401371 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym Garcia-Lurie syndrome icd11.foundation:1740361952 Aprosencephaly Garcia-Lurie syndrome icd11.foundation:1740361952 MONDO:0008814 hyperargininemia oio:hasExactSynonym arginase deficiency arginase deficiency Arginase deficiency icd11.foundation:1619102598 Argininaemia arginase deficiency icd11.foundation:1619102598 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinase deficiency argininosuccinase deficiency Argininosuccinase deficiency icd11.foundation:439383288 Argininosuccinic aciduria argininosuccinase deficiency icd11.foundation:439383288 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinic aciduria argininosuccinic aciduria Argininosuccinic aciduria icd11.foundation:439383288 Argininosuccinic aciduria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL argininosuccinic aciduria icd11.foundation:439383288 @@ -1207,7 +1188,6 @@ MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysacchar MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym Sanfilippo syndrome type D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D Sanfilippo syndrome type D icd11.foundation:1780990193 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym mucopolysaccharidosis type 3D mucopolysaccharidosis type 3D Mucopolysaccharidosis type 3D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 3D icd11.foundation:1780990193 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis type 4A mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4A icd11.foundation:1919173641 Mucopolysaccharidosis type 4A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 4A icd11.foundation:1919173641 -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency icd11.foundation:1479415032 Mucopolysaccharidosis type 4B Beta-D-galactosidase deficiency icd11.foundation:1479415032 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym Maroteaux-Lamy syndrome icd11.foundation:1288379621 Mucopolysaccharidosis type 6 Maroteaux-Lamy syndrome icd11.foundation:1288379621 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 Mucopolysaccharidosis type 6 N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 @@ -1272,8 +1252,8 @@ MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Immunosuppressive measles encephalitis Immunosuppressive measles encephalitis immunosuppressive measles encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Immunosuppressive measles encephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis subacute sclerosing panencephalitis Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis subacute sclerosing panencephalitis icd11.foundation:1098683540 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 +MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 MONDO:0009841 PEHO syndrome oio:hasExactSynonym peho syndrome peho syndrome PEHO syndrome icd11.foundation:976613527 PEHO syndrome peho syndrome icd11.foundation:976613527 MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym Imerslund-Grasbeck syndrome icd11.foundation:375969525 Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome icd11.foundation:375969525 MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym persistent Mullerian duct syndrome persistent Mullerian duct syndrome Persistent Mullerian duct syndrome icd11.foundation:697796373 Persistent Mullerian duct syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL persistent Mullerian duct syndrome icd11.foundation:697796373 @@ -1390,7 +1370,6 @@ MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym X-linked hyperuricemia X MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym deficiency of IMP pyrophosphorylase deficiency of IMP pyrophosphorylase deficiency of imp pyrophosphorylase icd11.foundation:1886495906 Lesch-Nyhan syndrome deficiency of IMP pyrophosphorylase icd11.foundation:1886495906 MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym Lesch-Nyhan syndrome icd11.foundation:1886495906 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Lesch-Nyhan syndrome icd11.foundation:1886495906 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy icd11.foundation:1185572073 Congenital myopathies benign congenital myopathy icd11.foundation:1185572073 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy icd11.foundation:690532643 Becker muscular dystrophy Becker muscular dystrophy icd11.foundation:690532643 MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Allan-Herndon-Dudley syndrome icd11.foundation:56813604 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis oio:hasExactSynonym nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 Nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 @@ -1652,7 +1631,6 @@ MONDO:0012552 multiple endocrine neoplasia type 4 oio:hasExactSynonym multiple MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency oio:hasExactSynonym primary immunodeficiency syndrome with short stature primary immunodeficiency syndrome with short stature Primary immunodeficiency syndrome with short stature icd11.foundation:813140844 Primary immunodeficiency syndrome due to p14 deficiency primary immunodeficiency syndrome with short stature icd11.foundation:813140844 MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym Potocki-Lupski syndrome icd11.foundation:1720095972 Potocki-Lupski syndrome Potocki-Lupski syndrome icd11.foundation:1720095972 MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym trisomy 17p11.2 trisomy 17p11.2 Trisomy 17p11.2 icd11.foundation:1720095972 Potocki-Lupski syndrome trisomy 17p11.2 icd11.foundation:1720095972 -MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis Pulmonary alveolar proteinosis icd11.foundation:1869739196 Pulmonary alveolar proteinosis Pulmonary Alveolar Proteinosis icd11.foundation:1869739196 MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym idiopathic pulmonary alveolar proteinosis idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 Autoimmune pulmonary alveolar proteinosis idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 MONDO:0012589 Pitt-Hopkins syndrome oio:hasExactSynonym Pitt-Hopkins syndrome icd11.foundation:2040786134 Pitt-Hopkins syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Pitt-Hopkins syndrome icd11.foundation:2040786134 MONDO:0012593 brain-lung-thyroid syndrome oio:hasExactSynonym brain-lung-thyroid syndrome brain-lung-thyroid syndrome Brain-lung-thyroid syndrome icd11.foundation:809856670 Brain-lung-thyroid syndrome brain-lung-thyroid syndrome icd11.foundation:809856670 @@ -1767,7 +1745,6 @@ MONDO:0015339 adrenomyeloneuropathy oio:hasExactSynonym adrenomyeloneuropathy a MONDO:0015340 drug rash with eosinophilia and systemic symptoms oio:hasExactSynonym DRESS syndrome icd11.foundation:516577496 DRESS syndrome DRESS syndrome icd11.foundation:516577496 MONDO:0015346 epilepsy with eyelid myoclonia oio:hasExactSynonym Jeavons syndrome icd11.foundation:262814036 Jeavons syndrome Jeavons syndrome icd11.foundation:262814036 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis multicentric reticulohistiocytosis Multicentric reticulohistiocytosis icd11.foundation:977116795 Multicentric reticulohistiocytosis multicentric reticulohistiocytosis icd11.foundation:977116795 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain congenital insensitivity to pain Congenital insensitivity to pain icd11.foundation:1411011731 Hereditary sensory and autonomic neuropathy type V congenital insensitivity to pain icd11.foundation:1411011731 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome Oral-Facial-Digital Syndrome icd11.foundation:1405407847 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome oral-facial-digital syndrome icd11.foundation:1405407847 MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst icd11.foundation:1956658224 First branchial cleft anomaly first branchial cleft cyst icd11.foundation:1956658224 @@ -1778,7 +1755,6 @@ MONDO:0015386 epignathus oio:hasExactSynonym oropharyngeal teratoma oropharynge MONDO:0015388 polyrrhinia oio:hasExactSynonym Double nose icd11.foundation:142812177 Polyrrhinia Double nose icd11.foundation:142812177 MONDO:0015390 proboscis lateralis oio:hasExactSynonym congenital tubular nose congenital tubular nose Congenital tubular nose icd11.foundation:646148612 Proboscis lateralis congenital tubular nose icd11.foundation:646148612 MONDO:0015392 nasal glial heterotopia oio:hasExactSynonym nasal glioma nasal glioma Nasal glioma icd11.foundation:1449384774 Nasal glial heterotopia nasal glioma icd11.foundation:1449384774 -MONDO:0015414 paramedian nasal cleft oio:hasExactSynonym cleft nose icd11.foundation:1824850646 Bifid nose cleft nose icd11.foundation:1824850646 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome icd11.foundation:734451870 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome icd11.foundation:734451870 MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome icd11.foundation:2098089327 Cogan syndrome Cogan syndrome icd11.foundation:2098089327 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency icd11.foundation:1133091451 Multiple carboxylase deficiency multiple carboxylase deficiency icd11.foundation:1133091451 @@ -1900,9 +1876,8 @@ MONDO:0016608 megalencephaly oio:hasExactSynonym macroencephaly macroencephaly MONDO:0016608 megalencephaly oio:hasExactSynonym megalencephaly megalencephaly Megalencephaly icd11.foundation:368780653 Megalencephaly megalencephaly icd11.foundation:368780653 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis cerebri icd11.foundation:373131154 Gliomatosis cerebri gliomatosis cerebri icd11.foundation:373131154 MONDO:0016712 classic medulloblastoma oio:hasExactSynonym classic medulloblastoma classic medulloblastoma Classic medulloblastoma icd11.foundation:1548011794 Classic medulloblastoma classic medulloblastoma icd11.foundation:1548011794 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma icd11.foundation:1959912502 Choroid plexus tumours anaplastic choroid plexus papilloma icd11.foundation:1959912502 +MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 MONDO:0016723 pineocytoma oio:hasExactSynonym pineocytoma pineocytoma Pineocytoma icd11.foundation:2055142333 Pineocytoma pineocytoma icd11.foundation:2055142333 MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma icd11.foundation:1287417975 Ganglioglioma ganglioglioma icd11.foundation:1287417975 MONDO:0016755 neurofibroma oio:hasExactSynonym neurofibroma neurofibroma Neurofibroma icd11.foundation:221014277 Neurofibroma neurofibroma icd11.foundation:221014277 @@ -1930,12 +1905,10 @@ MONDO:0017201 Spasmus nutans oio:hasExactSynonym Spasmus nutans icd11.foundat MONDO:0017219 microform holoprosencephaly oio:hasExactSynonym holoprosencephaly-like holoprosencephaly-like Holoprosencephaly-like icd11.foundation:44293173 Microform holoprosencephaly holoprosencephaly-like icd11.foundation:44293173 MONDO:0017255 panuveitis oio:hasExactSynonym diffuse uveitis icd11.foundation:1125547814 Panuveitis diffuse uveitis icd11.foundation:1125547814 MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis icd11.foundation:1125547814 Panuveitis panuveitis icd11.foundation:1125547814 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome icd11.foundation:1173370808 Antiphospholipid syndrome Antiphospholipid Syndrome icd11.foundation:1173370808 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyendocrinopathy icd11.foundation:548357900 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyglandular failure icd11.foundation:548357900 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyglandular syndrome icd11.foundation:548357900 MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis icd11.foundation:1473144548 Infestation by Demodex Demodicosis icd11.foundation:1473144548 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis Echinococcus multilocularis infection icd11.foundation:1456802165 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal transposition icd11.foundation:1417779551 Penoscrotal transposition penoscrotal transposition icd11.foundation:1417779551 MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids oio:hasExactSynonym chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 MONDO:0017304 ocular albinism oio:hasExactSynonym ocular albinism ocular albinism Ocular albinism icd11.foundation:1147926040 Ocular albinism ocular albinism icd11.foundation:1147926040 @@ -1972,11 +1945,9 @@ MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional e MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogen storage disease type 2, infantile onset glycogen storage disease type 2, infantile onset Glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogenosis type 2, infantile onset glycogenosis type 2, infantile onset Glycogenosis type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset glycogenosis type 2, infantile onset icd11.foundation:1496243702 MONDO:0017775 melioidosis oio:hasExactSynonym pseudoglanders icd11.foundation:2129350166 Melioidosis pseudoglanders icd11.foundation:2129350166 -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency oio:hasExactSynonym Schindler disease icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 Schindler disease icd11.foundation:1058486825 MONDO:0017799 Meigs syndrome oio:hasExactSynonym Meigs' syndrome icd11.foundation:1050919535 Meigs' syndrome Meigs' syndrome icd11.foundation:1050919535 MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital sequestration of lung congenital sequestration of lung Congenital sequestration of lung icd11.foundation:1833083626 Congenital sequestration of lung congenital sequestration of lung icd11.foundation:1833083626 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome icd11.foundation:1358020385 Szary syndrome Sezary syndrome icd11.foundation:1358020385 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome icd11.foundation:421687193 Sheehan syndrome Sheehan Syndrome icd11.foundation:421687193 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia variabilis icd11.foundation:551200965 Erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis icd11.foundation:551200965 MONDO:0017941 chikungunya oio:hasExactSynonym Chikungunya fever icd11.foundation:900389391 Chikungunya virus disease Chikungunya fever icd11.foundation:900389391 MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome icd11.foundation:1072688797 Autoimmune lymphoproliferative syndrome Canale-Smith syndrome icd11.foundation:1072688797 @@ -2033,7 +2004,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-positi MONDO:0018227 hypocomplementemic urticarial vasculitis oio:hasExactSynonym anti-C1q vasculitis anti-C1q vasculitis Anti-C1q vasculitis icd11.foundation:629572966 Hypocomplementaemic urticarial vasculitis anti-C1q vasculitis icd11.foundation:629572966 MONDO:0018242 autoimmune hypoparathyroidism oio:hasExactSynonym autoimmune hypoparathyroidism autoimmune hypoparathyroidism Autoimmune hypoparathyroidism icd11.foundation:1790437089 Autoimmune hypoparathyroidism autoimmune hypoparathyroidism icd11.foundation:1790437089 MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym chronic septic granulomatosis chronic septic granulomatosis Chronic septic granulomatosis icd11.foundation:1329764681 Chronic granulomatous disease chronic septic granulomatosis icd11.foundation:1329764681 -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym congenital dysphagocytosis congenital dysphagocytosis Congenital dysphagocytosis icd11.foundation:808756909 Functional neutrophil defects congenital dysphagocytosis icd11.foundation:808756909 MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation icd11.foundation:440483530 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation icd11.foundation:440483530 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease icd11.foundation:1772690306 Hirschsprung disease Hirschsprung disease icd11.foundation:1772690306 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic megacolon icd11.foundation:1772690306 Hirschsprung disease aganglionic megacolon icd11.foundation:1772690306 @@ -2098,8 +2068,6 @@ MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym hepatocellular adenoma MONDO:0018903 sarcocystosis oio:hasExactSynonym sarcosporidiosis sarcosporidiosis Sarcosporidiosis icd11.foundation:261748740 Sarcocystosis sarcosporidiosis icd11.foundation:261748740 MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome icd11.foundation:1654321425 Cushing syndrome Cushing syndrome icd11.foundation:1654321425 MONDO:0018912 Cushing syndrome oio:hasExactSynonym hyperadrenocorticism hyperadrenocorticism Hyperadrenocorticism icd11.foundation:1654321425 Cushing syndrome hyperadrenocorticism icd11.foundation:1654321425 -MONDO:0018912 Cushing syndrome oio:hasExactSynonym pituitary basophilism icd11.foundation:380861892 Pituitary-dependent Cushing disease pituitary basophilism icd11.foundation:380861892 -MONDO:0018912 Cushing syndrome oio:hasExactSynonym suprarenogenic syndrome icd11.foundation:380861892 Pituitary-dependent Cushing disease suprarenogenic syndrome icd11.foundation:380861892 MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym postpartum cardiomyopathy icd11.foundation:1218807936 Cardiomyopathy in the puerperium postpartum cardiomyopathy icd11.foundation:1218807936 MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome icd11.foundation:695796893 Meckel-Gruber syndrome Meckel-Gruber syndrome icd11.foundation:695796893 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym Sedlackova syndrome icd11.foundation:1868156761 CATCH 22 phenotype Sedlackova syndrome icd11.foundation:1868156761 @@ -2110,7 +2078,6 @@ MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym Hemi MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym hemiplegic migraine hemiplegic migraine Hemiplegic migraine icd11.foundation:1957063016 Hemiplegic migraine hemiplegic migraine icd11.foundation:1957063016 MONDO:0018936 osteoblastoma oio:hasExactSynonym osteoblastoma osteoblastoma Osteoblastoma icd11.foundation:1948326341 Osteoblastoma osteoblastoma icd11.foundation:1948326341 MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym Sanfilippo syndrome icd11.foundation:1477250013 Mucopolysaccharidosis type 3 Sanfilippo syndrome icd11.foundation:1477250013 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A heparan sulfate sulfatase deficiency icd11.foundation:182200345 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym Morquio syndrome icd11.foundation:2078241550 Mucopolysaccharidosis type 4 Morquio syndrome icd11.foundation:2078241550 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym mucopolysaccharidosis type 4 mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4 icd11.foundation:2078241550 Mucopolysaccharidosis type 4 mucopolysaccharidosis type 4 icd11.foundation:2078241550 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital myasthenic syndromes icd11.foundation:1515367530 Congenital myasthenic syndromes Congenital Myasthenic Syndromes icd11.foundation:1515367530 @@ -2142,8 +2109,6 @@ MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome icd11.found MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis icd11.foundation:650490256 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis icd11.foundation:650490256 MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 icd11.foundation:1837913809 MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis icd11.foundation:158151813 Nephronophthisis nephronophthisis icd11.foundation:158151813 -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease medullary cystic disease icd11.foundation:216863438 -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic kidney icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease medullary cystic kidney icd11.foundation:216863438 MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 Benign recurrent intrahepatic cholestasis Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome icd11.foundation:2132713612 Carpenter syndrome Carpenter syndrome icd11.foundation:2132713612 MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos icd11.foundation:1168696429 Omphalocele exomphalos icd11.foundation:1168696429 @@ -2184,7 +2149,6 @@ MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oi MONDO:0019147 myiasis oio:hasExactSynonym infestation by fly larvae infestation by fly larvae Infestation by fly larvae icd11.foundation:1367149207 Myiasis infestation by fly larvae icd11.foundation:1367149207 MONDO:0019147 myiasis oio:hasExactSynonym infestation by maggots icd11.foundation:1367149207 Myiasis infestation by maggots icd11.foundation:1367149207 MONDO:0019147 myiasis oio:hasExactSynonym maggot infestation maggot infestation Maggot infestation icd11.foundation:1367149207 Myiasis maggot infestation icd11.foundation:1367149207 -MONDO:0019148 Wolman disease oio:hasExactSynonym acid esterase deficiency acid esterase deficiency Acid esterase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency acid esterase deficiency icd11.foundation:381622932 MONDO:0019152 Oguchi disease oio:hasExactSynonym Oguchi disease icd11.foundation:1759055065 Oguchi disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Oguchi disease icd11.foundation:1759055065 MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym primary acquired sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 primary acquired sideroblastic anaemia icd11.foundation:1793160341 @@ -2222,13 +2186,10 @@ MONDO:0019260 adult neuronal ceroid lipofuscinosis oio:hasExactSynonym adult ne MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Hagberg-Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Hagberg-Santavuori disease icd11.foundation:797123687 MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Santavuori disease icd11.foundation:797123687 MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori-Haltia disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Santavuori-Haltia disease icd11.foundation:797123687 -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym batten disease batten disease Batten disease icd11.foundation:1568332253 Neuronal ceroid lipofuscinosis batten disease icd11.foundation:1568332253 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym Spielmeyer-Vogt disease icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis Spielmeyer-Vogt disease icd11.foundation:1716107919 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym juvenile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 icd11.foundation:1639349183 Alpha-N-acetylgalactosaminidase deficiency type 3 Schindler disease type 3 icd11.foundation:1639349183 MONDO:0019280 hypertrichosis oio:hasExactSynonym hypertrichosis hypertrichosis Hypertrichosis icd11.foundation:2042627850 Hypertrichosis hypertrichosis icd11.foundation:2042627850 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym HPS HPS hps icd11.foundation:582624609 Hantavirus pulmonary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPS icd11.foundation:582624609 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome icd11.foundation:866605228 Hepatopulmonary syndrome Hepatopulmonary Syndrome icd11.foundation:866605228 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis icd11.foundation:193128939 Diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis icd11.foundation:193128939 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa urticaria pigmentosa icd11.foundation:245322245 MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome icd11.foundation:399813106 Pemphigus erythematosus Senear-Usher syndrome icd11.foundation:399813106 @@ -2279,12 +2240,10 @@ MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym congenita MONDO:0019404 perineurioma oio:hasExactSynonym perineurioma perineurioma Perineurioma icd11.foundation:456459236 Perineurioma perineurioma icd11.foundation:456459236 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 Microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis icd11.foundation:183642011 Idiopathic juvenile osteoporosis idiopathic juvenile osteoporosis icd11.foundation:183642011 -MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic osteoporosis icd11.foundation:2113001430 Osteoporosis idiopathic osteoporosis icd11.foundation:2113001430 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym Still disease icd11.foundation:504387587 Juvenile systemic arthritis Still disease icd11.foundation:504387587 MONDO:0019436 psoriasis-related juvenile idiopathic arthritis oio:hasExactSynonym juvenile psoriatic arthritis juvenile psoriatic arthritis Juvenile psoriatic arthritis icd11.foundation:1473955563 Juvenile psoriatic arthritis juvenile psoriatic arthritis icd11.foundation:1473955563 MONDO:0019438 AL amyloidosis oio:hasExactSynonym primary amyloidosis primary amyloidosis Primary amyloidosis icd11.foundation:1061366491 AL amyloidosis primary amyloidosis icd11.foundation:1061366491 MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary amyloidosis icd11.foundation:570181034 AA amyloidosis secondary amyloidosis icd11.foundation:570181034 -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym dialysis-related amyloidosis dialysis-related amyloidosis Dialysis-related amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis dialysis-related amyloidosis icd11.foundation:448754119 MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis icd11.foundation:284613639 Trichinosis trichinosis icd11.foundation:284613639 MONDO:0019446 localized lichen myxedematosus oio:hasExactSynonym papular mucinosis papular mucinosis Papular mucinosis icd11.foundation:15830032 Lichen myxoedematosus papular mucinosis icd11.foundation:15830032 MONDO:0019448 benign adult familial myoclonic epilepsy oio:hasExactSynonym benign adult familial myoclonus epilepsy benign adult familial myoclonus epilepsy Benign adult familial myoclonus epilepsy icd11.foundation:1036649329 Benign adult familial myoclonus epilepsy benign adult familial myoclonus epilepsy icd11.foundation:1036649329 @@ -2303,14 +2262,12 @@ MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym intest MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 Subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma icd11.foundation:911785965 Histiocytic sarcoma histiocytic sarcoma icd11.foundation:911785965 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma icd11.foundation:588958190 Langerhans cell sarcoma Langerhans cell sarcoma icd11.foundation:588958190 -MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, X Karyotype 45, X icd11.foundation:95979116 Karyotype 45, X karyotype 45, X icd11.foundation:95979116 MONDO:0019517 Waardenburg syndrome type 2 oio:hasExactSynonym Waardenburg syndrome type 2 icd11.foundation:746815303 Waardenburg syndrome type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome type 2 icd11.foundation:746815303 MONDO:0019518 Waardenburg-Shah syndrome oio:hasExactSynonym Waardenburg-Shah syndrome icd11.foundation:1420151003 Waardenburg-Shah syndrome Waardenburg-Shah syndrome icd11.foundation:1420151003 MONDO:0019524 Bartter syndrome type 4 oio:hasExactSynonym Bartter syndrome type 4 icd11.foundation:959024909 Bartter syndrome type 4 Bartter syndrome type 4 icd11.foundation:959024909 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome icd11.foundation:715111132 Paroxysmal cold haemoglobinuria Donath-Landsteiner syndrome icd11.foundation:715111132 MONDO:0019538 Gaisbock syndrome oio:hasExactSynonym stress erythrocytosis icd11.foundation:533704171 Gaisbock syndrome stress erythrocytosis icd11.foundation:533704171 MONDO:0019547 Wells syndrome oio:hasExactSynonym eosinophilic cellulitis eosinophilic cellulitis Eosinophilic cellulitis icd11.foundation:1860796142 Eosinophilic cellulitis eosinophilic cellulitis icd11.foundation:1860796142 -MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym peripheral neuropathy and optic atrophy peripheral neuropathy and optic atrophy Peripheral neuropathy and optic atrophy icd11.foundation:1149710475 Autosomal dominant optic atrophy plus syndrome peripheral neuropathy and optic atrophy icd11.foundation:1149710475 MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 Hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 MONDO:0019562 localized scleroderma oio:hasExactSynonym circumscribed scleroderma circumscribed scleroderma Circumscribed scleroderma icd11.foundation:1430740369 Plaque morphoea circumscribed scleroderma icd11.foundation:1430740369 MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome type 1 icd11.foundation:1271368066 Cockayne syndrome type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cockayne syndrome type 1 icd11.foundation:1271368066 @@ -2319,7 +2276,6 @@ MONDO:0019600 xeroderma pigmentosum oio:hasExactSynonym atrophoderma pigmentosu MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym Zollinger-Ellison syndrome icd11.foundation:375645550 Zollinger-Ellison syndrome Zollinger-Ellison syndrome icd11.foundation:375645550 MONDO:0019611 TSH-secreting pituitary adenoma oio:hasExactSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma icd11.foundation:125504731 TSH-secreting pituitary adenoma thyrotroph adenoma icd11.foundation:125504731 MONDO:0019613 non-functioning pituitary adenoma oio:hasExactSynonym non-functioning pituitary adenoma non-functioning pituitary adenoma Non-functioning pituitary adenoma icd11.foundation:1197752358 Non-secreting pituitary adenoma non-functioning pituitary adenoma icd11.foundation:1197752358 -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym postpartum hypopituitarism icd11.foundation:768216194 Hypopituitarism postpartum hypopituitarism icd11.foundation:768216194 MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioedema hereditary angioedema Hereditary angioedema icd11.foundation:795969334 Hereditary angioedema hereditary angioedema icd11.foundation:795969334 MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioneurotic oedema hereditary angioneurotic oedema Hereditary angioneurotic oedema icd11.foundation:795969334 Hereditary angioedema http://purl.obolibrary.org/obo/OMO_0003005 hereditary angioneurotic oedema icd11.foundation:795969334 MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioedema acquired angioedema Acquired angioedema icd11.foundation:1078767412 Acquired angioedema acquired angioedema icd11.foundation:1078767412 @@ -2365,7 +2321,6 @@ MONDO:0019975 pellagra oio:hasExactSynonym pellagra pellagra Pellagra icd11.fou MONDO:0019993 congenital renal artery stenosis oio:hasExactSynonym congenital renovascular hypoplasia congenital renovascular hypoplasia Congenital renovascular hypoplasia icd11.foundation:856359002 Congenital renal artery stenosis congenital renovascular hypoplasia icd11.foundation:856359002 MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy icd11.foundation:173613583 Progressive myoclonic epilepsy progressive myoclonic epilepsy icd11.foundation:173613583 MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystrophy genetic lipodystrophy Genetic lipodystrophy icd11.foundation:1166232738 Genetic lipodystrophy genetic lipodystrophy icd11.foundation:1166232738 -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemolytic anaemia icd11.foundation:880772122 Autoimmune haemolytic anaemia, warm type http://purl.obolibrary.org/obo/OMO_0003005 autoimmune haemolytic anaemia icd11.foundation:880772122 MONDO:0020110 pulmonary agenesis oio:hasExactSynonym congenital absence of lung icd11.foundation:134836096 Agenesis of lung congenital absence of lung icd11.foundation:134836096 MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease icd11.foundation:661720689 Motor neuron disease anterior horn cell disease icd11.foundation:661720689 MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease icd11.foundation:661720689 Motor neuron disease motor neuron disease icd11.foundation:661720689 @@ -2401,7 +2356,6 @@ MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroe MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma icd11.foundation:1377407737 Eosinophilic granuloma eosinophilic granuloma icd11.foundation:1377407737 MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus transient neonatal diabetes mellitus Transient neonatal diabetes mellitus icd11.foundation:1596856936 Transient neonatal diabetes mellitus transient neonatal diabetes mellitus icd11.foundation:1596856936 MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic Cushing syndrome ectopic Cushing syndrome Ectopic Cushing syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome ectopic Cushing syndrome icd11.foundation:1646144829 -MONDO:0020528 ACTH-dependent Cushing syndrome oio:hasExactSynonym pituitary-dependent Cushing disease pituitary-dependent Cushing disease Pituitary-dependent Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease pituitary-dependent Cushing disease icd11.foundation:380861892 MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym long chain acyl-CoA dehydrogenase deficiency long chain acyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 Long chain acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym sodoku sodoku Sodoku icd11.foundation:1104357482 Spirillosis sodoku icd11.foundation:1104357482 MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym Haverhill fever icd11.foundation:614000128 Streptobacillosis Haverhill fever icd11.foundation:614000128 diff --git a/src/ontology/reports/sync-synonym/icd11foundation.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/icd11foundation.synonyms.updated.robot.tsv index 96753e46..b738756c 100644 --- a/src/ontology/reports/sync-synonym/icd11foundation.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/icd11foundation.synonyms.updated.robot.tsv @@ -7,49 +7,25 @@ MONDO:0000299 thelaziasis oio:hasExactSynonym oio:hasRelatedSynonym verminous op MONDO:0000303 conidiobolomycosis oio:hasExactSynonym oio:hasRelatedSynonym rhinoentomophthoromycosis rhinoentomophthoromycosis Rhinoentomophthoromycosis icd11.foundation:1326582778 Conidiobolomycosis rhinoentomophthoromycosis icd11.foundation:1326582778 MONDO:0000330 endemic typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:0050481 shop typhus icd11.foundation:4659958 MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome icd11.foundation:553392015 Short QT syndrome Orphanet:51083 familial short QT syndrome icd11.foundation:553392015 -MONDO:0000809 purpura fulminans oio:hasExactSynonym oio:hasRelatedSynonym fibrinolytic purpura fibrinolytic purpura Fibrinolytic purpura icd11.foundation:1622289887 Disseminated intravascular coagulation ORCID:0000-0002-6601-2165 fibrinolytic purpura icd11.foundation:1622289887 MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague icd11.foundation:1983098110 Pneumonic plague DOID:10398 primary pneumonic plague icd11.foundation:1983098110 -MONDO:0001046 imperforate anus oio:hasExactSynonym oio:hasRelatedSynonym anorectal malformations anorectal malformations Anorectal malformations icd11.foundation:942572025 Anorectal malformations GARD:0006769 anorectal malformations icd11.foundation:942572025 MONDO:0001078 tropical sprue oio:hasExactSynonym oio:hasRelatedSynonym tropical enteropathy icd11.foundation:316377284 Tropical sprue GARD:0007824 tropical enteropathy icd11.foundation:316377284 MONDO:0001099 lactocele oio:hasExactSynonym oio:hasRelatedSynonym lacteal cyst icd11.foundation:1987155556 Lactocele GARD:0008401 lacteal cyst icd11.foundation:1987155556 MONDO:0001103 giardiasis oio:hasExactSynonym oio:hasRelatedSynonym lambliasis icd11.foundation:433310499 Giardiasis MESH:D005873 lambliasis icd11.foundation:433310499 MONDO:0001109 petrositis oio:hasExactSynonym oio:hasRelatedSynonym inflammation of petrous bone icd11.foundation:716546173 Petrositis DOID:10755 inflammation of petrous bone icd11.foundation:716546173 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym classical typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 classical typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym epidemic louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 epidemic louse-borne typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym epidemic louse-borne typhus fever due to Rickettsia prowazekii epidemic louse-borne typhus fever due to Rickettsia prowazekii Epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym famine fever icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 famine fever icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 louse-borne typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Mexican typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 Mexican typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 Urban typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 endemic typhus fever icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 flea-borne typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 murine typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 shop typhus icd11.foundation:4659958 MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's itch icd11.foundation:648519873 Cercarial dermatitis GARD:0009747 swimmer's itch icd11.foundation:648519873 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis NORD:1601 Posterior Uveitis icd11.foundation:1884626736 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis MONDO:ambiguous, NCIT:C35111 posterior uveitis icd11.foundation:1884626736 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis icd11.foundation:1365585570 Chagas disease DOID:12140 American trypanosomiasis icd11.foundation:1365585570 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym south American trypanosomiasis south American trypanosomiasis South American trypanosomiasis icd11.foundation:1365585570 Chagas disease south American trypanosomiasis icd11.foundation:1365585570 MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis icd11.foundation:307264938 Lymphocytic choriomeningitis DOID:12155 lymphocytic meningitis icd11.foundation:307264938 -MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea icd11.foundation:2132180242 Huntington disease DOID:12859 hereditary chorea icd11.foundation:2132180242 -MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis icd11.foundation:1032655599 Gonococcal prostatitis DOID:13943 gonococcal prostatitis icd11.foundation:1032655599 -MONDO:0001881 toxic shock syndrome oio:hasExactSynonym oio:hasRelatedSynonym staphylococcal toxic shock syndrome staphylococcal toxic shock syndrome Staphylococcal toxic shock syndrome icd11.foundation:788554020 Staphylococcal toxic shock syndrome GARD:0009560 staphylococcal toxic shock syndrome icd11.foundation:788554020 MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome icd11.foundation:156523187 FG syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome icd11.foundation:156523187 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis icd11.foundation:2071113448 Acute cholecystitis GARD:0000030 acalculous cholecystitis icd11.foundation:2071113448 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute cholecystitis icd11.foundation:2071113448 Acute cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis icd11.foundation:2071113448 -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy transient arthropathy Transient arthropathy icd11.foundation:404860910 Transient arthropathy NCIT:C35761 transient arthropathy icd11.foundation:404860910 -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic bronchitis icd11.foundation:290835130 Chronic bronchitis DOID:6132 chronic bronchitis icd11.foundation:290835130 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 fibrodysplasia ossificans progressiva icd11.foundation:2102976705 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 progressive myositis ossificans icd11.foundation:2102976705 MONDO:0004651 smallpox oio:hasExactSynonym oio:hasRelatedSynonym Variola icd11.foundation:2054716425 Smallpox GARD:0007444 Variola icd11.foundation:2054716425 MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm ringworm Ringworm icd11.foundation:1802307036 Dermatophytosis Wikipedia:Dermatophytosis ringworm icd11.foundation:1802307036 MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis icd11.foundation:1076459084 Chronic ethmoidal sinusitis DOID:9312 chronic ethmoiditis icd11.foundation:1076459084 -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia areata icd11.foundation:65720611 Alopecia areata NCIT:C50575 alopecia areata icd11.foundation:65720611 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym systolic click-murmur syndrome icd11.foundation:1085590500 Mitral valve prolapse DOID:988 systolic click-murmur syndrome icd11.foundation:1085590500 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion icd11.foundation:1871672644 Gastritis DOID:4029 acute gastric mucosal erosion icd11.foundation:1871672644 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 congestive cardiomyopathy icd11.foundation:1916294688 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 primary dilated cardiomyopathy icd11.foundation:1916294688 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective disorder icd11.foundation:106339515 Schizoaffective disorder OMIM:181500 schizoaffective disorder icd11.foundation:106339515 MONDO:0005152 hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym pituitary hypofunction icd11.foundation:768216194 Hypopituitarism DOID:9406 pituitary hypofunction icd11.foundation:768216194 MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia icd11.foundation:142052508 Pneumonia DOID:552 acute pneumonia icd11.foundation:142052508 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency icd11.foundation:412389819 Chronic kidney disease NCIT:C80078 chronic renal insufficiency icd11.foundation:412389819 @@ -59,7 +35,6 @@ MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin intoxication with clostridium botulinum toxin icd11.foundation:78422942 Botulism DOID:11976 intoxication with Clostridium botulinum toxin icd11.foundation:78422942 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym solitary myeloma solitary myeloma Solitary myeloma icd11.foundation:1811140613 Solitary plasmacytoma DOID:3721 solitary myeloma icd11.foundation:1811140613 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma icd11.foundation:1811140613 Solitary plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 solitary plasmacytoma icd11.foundation:1811140613 -MONDO:0005638 agnosia oio:hasExactSynonym oio:hasRelatedSynonym dyspraxia syndrome icd11.foundation:986651951 Apraxia DOID:4090 dyspraxia syndrome icd11.foundation:986651951 MONDO:0005654 ascariasis oio:hasExactSynonym oio:hasRelatedSynonym Ascaris lumbricoides infection Ascaris lumbricoides infection ascaris lumbricoides infection icd11.foundation:17842540 Ascariasis DOID:456 Ascaris lumbricoides infection icd11.foundation:17842540 MONDO:0005662 balantidiasis oio:hasExactSynonym oio:hasRelatedSynonym Balantidium coli infection Balantidium coli infection balantidium coli infection icd11.foundation:2090337975 Infections due to Balantidium coli GARD:0000809 Balantidium coli infection icd11.foundation:2090337975 MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever icd11.foundation:730510331 Brucellosis DOID:11077 Malta fever icd11.foundation:730510331 @@ -74,17 +49,13 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym mud fever MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym swamp fever icd11.foundation:751399056 Leptospirosis GARD:0007881 swamp fever icd11.foundation:751399056 MONDO:0005844 chalazion oio:hasExactSynonym oio:hasRelatedSynonym Meibomian cyst icd11.foundation:777918741 Chalazion MESH:D017043 Meibomian cyst icd11.foundation:777918741 MONDO:0005846 microsporidiosis oio:hasExactSynonym oio:hasRelatedSynonym Microsporidiasis Microsporidiasis microsporidiasis icd11.foundation:1021483422 Microsporidiosis GARD:0003655 Microsporidiasis icd11.foundation:1021483422 -MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym oio:hasRelatedSynonym lobo disease lobo disease Lobo disease icd11.foundation:566562143 Lobomycosis GARD:0007323 lobo disease icd11.foundation:566562143 MONDO:0005895 paragonimiasis oio:hasExactSynonym oio:hasRelatedSynonym Paragonimus westermani infection Paragonimus westermani infection paragonimus westermani infection icd11.foundation:1422824299 Paragonimiasis GARD:0009815 Paragonimus westermani infection icd11.foundation:1422824299 MONDO:0005915 pityriasis versicolor oio:hasExactSynonym oio:hasRelatedSynonym tinea versicolor tinea versicolor Tinea versicolor icd11.foundation:67108853 Pityriasis versicolor MESH:D014010 tinea versicolor icd11.foundation:67108853 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym trichocephaliasis trichocephaliasis Trichocephaliasis icd11.foundation:422746556 Trichuriasis GARD:0010720 trichocephaliasis icd11.foundation:422746556 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection icd11.foundation:422746556 Trichuriasis GARD:0010720 whipworm infection icd11.foundation:422746556 MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever icd11.foundation:608978790 Venezuelan equine encephalitis DOID:9584, ICD9CM:066.2 Venezuelan equine fever icd11.foundation:608978790 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym non-cardiogenic pulmonary oedema icd11.foundation:1466842111 Adult acute respiratory distress syndrome http://purl.obolibrary.org/obo/OMO_0003005 non-cardiogenic pulmonary oedema icd11.foundation:1466842111 MONDO:0006572 lichen planus oio:hasExactSynonym oio:hasRelatedSynonym ruber planus icd11.foundation:1402978031 Lichen planus ruber planus icd11.foundation:1402978031 -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina miliaria crystallina Miliaria crystallina icd11.foundation:796835029 Miliaria crystallina DOID:11153 miliaria crystallina icd11.foundation:796835029 MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis icd11.foundation:908233081 Anterior uveitis Orphanet:280886 iridocyclitis icd11.foundation:908233081 -MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome icd11.foundation:1300118676 Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome icd11.foundation:1300118676 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome icd11.foundation:1606151456 Lateral medullary syndrome GARD:0009263 Lateral medullary syndrome icd11.foundation:1606151456 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym oio:hasRelatedSynonym meconium inhalation icd11.foundation:872221482 Neonatal aspiration of meconium MESH:D008471 meconium inhalation icd11.foundation:872221482 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma icd11.foundation:1988933820 Myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma icd11.foundation:1988933820 @@ -93,24 +64,16 @@ MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eag MONDO:0007037 Achondroplasia oio:hasExactSynonym oio:hasRelatedSynonym Achondroplastic dwarfism Achondroplastic dwarfism achondroplastic dwarfism icd11.foundation:24224082 Achondroplasia GARD:0008173 Achondroplastic dwarfism icd11.foundation:24224082 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, central type neurofibromatosis, central type Neurofibromatosis, central type icd11.foundation:14808714 Neurofibromatosis type 2 OMIM:101000 neurofibromatosis, central type icd11.foundation:14808714 MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome Acro-dermato-ungual-lacrimal-tooth syndrome icd11.foundation:1445741645 ADULT syndrome OMIM:103285 acro-dermato-ungual-lacrimal-Tooth syndrome icd11.foundation:1445741645 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome icd11.foundation:1321054364 Scimitar syndrome DOID:4297 scimitar syndrome icd11.foundation:1321054364 MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy icd11.foundation:896652469 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 SVEINSSON chorioretinal atrophy icd11.foundation:896652469 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma Congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 Epidermolytic ichthyosis GARD:0001039 congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma icd11.foundation:1556608523 Hepatoblastoma OMIM:114550 hepatoblastoma icd11.foundation:1556608523 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome icd11.foundation:1475063064 Cerebrocostomandibular syndrome OMIM:117650 CEREBROCOSTOMANDIBULAR syndrome icd11.foundation:1475063064 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome icd11.foundation:543218573 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 popliteal pterygium syndrome icd11.foundation:543218573 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta icd11.foundation:1524185114 Coarctation of aorta OMIM:120000 coarctation of aorta icd11.foundation:1524185114 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc icd11.foundation:592278969 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc icd11.foundation:592278969 -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria icd11.foundation:1664486132 Harderoporphyria OMIM:121300 Harderoporphyria icd11.foundation:1664486132 MONDO:0007403 inherited Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease icd11.foundation:607607042 Genetic Creutzfeldt-Jakob disease MONDO:Lexical, OMIM:123400 Creutzfeldt-Jakob disease icd11.foundation:607607042 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym 5p minus syndrome icd11.foundation:620584190 Cri-du-chat syndrome GARD:0006213 5p minus syndrome icd11.foundation:620584190 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cat Cry syndrome Cat Cry syndrome cat cry syndrome icd11.foundation:620584190 Cri-du-chat syndrome OMIM:123450 Cat Cry syndrome icd11.foundation:620584190 MONDO:0007405 Crouzon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Crouzon disease icd11.foundation:1535725821 Crouzon disease GARD:0006206 Crouzon disease icd11.foundation:1535725821 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica icd11.foundation:1059069619 Haemorrhagic fever with renal syndrome OMIM:124100 nephropathia epidemica icd11.foundation:1059069619 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus icd11.foundation:1009553897 Central diabetes insipidus NCIT:C84933 neurogenic diabetes insipidus icd11.foundation:1009553897 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva icd11.foundation:2102976705 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome icd11.foundation:2132105652 Tukel syndrome DOID:0080143 Tukel syndrome icd11.foundation:2132105652 -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens icd11.foundation:567796529 Retinitis punctata albescens DOID:11105, OMIM:136880 retinitis punctata albescens icd11.foundation:567796529 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome icd11.foundation:119340957 Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome icd11.foundation:119340957 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tourette disorder icd11.foundation:119340957 Tourette syndrome OMIM:137580 Tourette disorder icd11.foundation:119340957 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto struma Hashimoto struma hashimoto struma icd11.foundation:972507934 Hashimoto thyroiditis OMIM:140300, MESH:D050031 Hashimoto struma icd11.foundation:972507934 @@ -118,8 +81,6 @@ MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymp MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm icd11.foundation:353312397 Hemifacial spasm Orphanet:221083 hemifacial spasm icd11.foundation:353312397 MONDO:0007737 humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humero-radial synostosis humero-radial synostosis Humero-radial synostosis icd11.foundation:518723993 Humero-radial synostosis Orphanet:3265 humero-radial synostosis icd11.foundation:518723993 MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema icd11.foundation:1491245207 Keratolytic winter erythema OMIM:148370 keratolytic WINTER erythema icd11.foundation:1491245207 -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia icd11.foundation:670519908 Macroglossia OMIM:153630 macroglossia icd11.foundation:670519908 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa OMIM:154800 urticaria pigmentosa icd11.foundation:245322245 MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis icd11.foundation:1342578560 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS icd11.foundation:1342578560 MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis icd11.foundation:2066427602 Ankylosis of teeth OMIM:157950 dental ankylosis icd11.foundation:2066427602 MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome OMIM:158320 MUIR-Torre syndrome icd11.foundation:229304403 @@ -127,7 +88,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia icd11.foundation:1984860886 Gnathodiaphyseal dysplasia OMIM:166260 GNATHODIAPHYSEAL dysplasia icd11.foundation:1984860886 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dermatoosteopoikilosis icd11.foundation:1556522143 Buschke-Ollendorff syndrome OMIM:166700 Dermatoosteopoikilosis icd11.foundation:1556522143 -MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis icd11.foundation:679955609 Hereditary elliptocytosis Orphanet:98868 hereditary ovalocytosis icd11.foundation:679955609 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym Eulenburg disease icd11.foundation:1740060527 Paramyotonia congenita GARD:0007325 Eulenburg disease icd11.foundation:1740060527 MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign familial pemphigus icd11.foundation:818400628 Hailey-Hailey disease GARD:0006559 benign familial pemphigus icd11.foundation:818400628 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome icd11.foundation:726317303 Kindler syndrome OMIM:173650 KINDLER syndrome icd11.foundation:726317303 @@ -135,18 +95,13 @@ MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 medullary cystic disease icd11.foundation:216863438 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 medullary cystic kidney disease icd11.foundation:216863438 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD MCKD mckd icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 MCKD icd11.foundation:216863438 -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone icd11.foundation:1704766818 Fibrous dysplasia of bone NCIT:C34609 fibrous dysplasia of bone icd11.foundation:1704766818 MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym hydroxymethylbilane synthase deficiency hydroxymethylbilane synthase deficiency Hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 Acute intermittent porphyria GARD:0005732 hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphobilinogen deaminase deficiency porphobilinogen deaminase deficiency Porphobilinogen deaminase deficiency icd11.foundation:1565229118 Acute intermittent porphyria OMIM:176000 porphobilinogen deaminase deficiency icd11.foundation:1565229118 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 porphyria cutanea tarda icd11.foundation:370983230 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria, Hepatocutaneous type porphyria, Hepatocutaneous type Porphyria, hepatocutaneous type icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 porphyria, Hepatocutaneous type icd11.foundation:370983230 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata icd11.foundation:1227474618 Variegate porphyria OMIM:176200 porphyria variegata icd11.foundation:1227474618 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea icd11.foundation:271430543 Ring dermoid of cornea OMIM:180550 RING dermoid of cornea icd11.foundation:271430543 MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome icd11.foundation:88843032 Scalp-ear-nipple syndrome OMIM:181270 scalp-EAR-nipple syndrome icd11.foundation:88843032 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome icd11.foundation:642409035 Stiff skin syndrome OMIM:184900 STIFF skin syndrome icd11.foundation:642409035 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OVERHYDRATED hereditary stomatocytosis OVERHYDRATED hereditary stomatocytosis Overhydrated hereditary stomatocytosis icd11.foundation:595647587 Overhydrated hereditary stomatocytosis OMIM:185000 OVERHYDRATED hereditary stomatocytosis icd11.foundation:595647587 -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type icd11.foundation:234032200 Craniosynostosis, Philadelphia type OMIM:185900 craniosynostosis, Philadelphia type icd11.foundation:234032200 -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia rheumatica icd11.foundation:103940897 Polymyalgia rheumatica OMIM:187360 polymyalgia rheumatica icd11.foundation:103940897 MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym cranial arteritis icd11.foundation:1929970386 Giant cell arteritis OMIM:187360 cranial arteritis icd11.foundation:1929970386 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym Fallot tetralogy icd11.foundation:90973426 Tetralogy of Fallot GARD:0002245 Fallot tetralogy icd11.foundation:90973426 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot icd11.foundation:90973426 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT icd11.foundation:90973426 @@ -160,15 +115,12 @@ MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008747 oculocutaneous albinism type 3 oio:hasExactSynonym oio:hasRelatedSynonym Xanthism icd11.foundation:1565320806 Oculocutaneous albinism type 3 GARD:0009641, OMIM:203290 Xanthism icd11.foundation:1565320806 MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym alexanders leukodystrophy alexanders leukodystrophy Alexanders leukodystrophy icd11.foundation:2023359698 Alexander disease GARD:0005774 alexanders leukodystrophy icd11.foundation:2023359698 MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym deficiency of homogentisicase icd11.foundation:1761652827 Alkaptonuria DOID:9270 deficiency of homogentisicase icd11.foundation:1761652827 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly icd11.foundation:1740361952 Aprosencephaly Orphanet:3469 atelencephaly icd11.foundation:1740361952 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency icd11.foundation:439383288 Argininosuccinic aciduria OMIM:207900 argininosuccinate lyase deficiency icd11.foundation:439383288 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome icd11.foundation:37248895 Barber-Say syndrome OMIM:209885 BARBER-SAY syndrome icd11.foundation:37248895 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency MESH:C537079, Orphanet:572, GARD:0000824 Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency by defective expression of HLA class 2 immunodeficiency by defective expression of HLA class 2 Immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency Orphanet:572 immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease icd11.foundation:1000683110 Thromboangiitis obliterans OMIM:211480 BUERGER disease icd11.foundation:1000683110 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis icd11.foundation:1457142642 Progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis icd11.foundation:1457142642 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency icd11.foundation:677949122 Carnitine-acylcarnitine translocase deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency icd11.foundation:677949122 -MONDO:0009009 hypoplasminogenemia oio:hasExactSynonym oio:hasRelatedSynonym ligneous conjunctivitis ligneous conjunctivitis Ligneous conjunctivitis icd11.foundation:1464324556 Ligneous conjunctivitis OMIM:217090, ORCID:0000-0001-9310-0163 ligneous conjunctivitis icd11.foundation:1464324556 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess icd11.foundation:1737310323 Apparent mineralocorticoid excess OMIM:218030 apparent mineralocorticoid EXCESS icd11.foundation:1737310323 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome icd11.foundation:1650688177 Baller-Gerold syndrome OMIM:218600 BALLER-Gerold syndrome icd11.foundation:1650688177 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease GARD:0012867 Cushing disease icd11.foundation:380861892 @@ -194,7 +146,6 @@ MONDO:0009262 GM1 gangliosidosis type 3 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ethylmalonic-Adipicaciduria ethylmalonic-Adipicaciduria Ethylmalonic-adipicaciduria icd11.foundation:977130875 Multiple acyl-CoA dehydrogenase deficiency OMIM:231680 ethylmalonic-Adipicaciduria icd11.foundation:977130875 MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-glomerular basement membrane antibody disease icd11.foundation:591736785 Anti-glomerular basement membrane antibody mediated disease GARD:0002551 anti-glomerular basement membrane antibody disease icd11.foundation:591736785 MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency oio:hasExactSynonym oio:hasRelatedSynonym Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined growth factor deficiency icd11.foundation:1235390174 Lipodystrophy due to peptidic growth factors deficiency OMIM:233805 Werner-like syndrome due to combined Growth Factor deficiency icd11.foundation:1235390174 -MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease icd11.foundation:1528863768 Hodgkin lymphoma OMIM:236000 Hodgkin disease icd11.foundation:1528863768 MONDO:0009451 Nezelof syndrome oio:hasExactSynonym oio:hasRelatedSynonym thymic aplasia thymic aplasia Thymic aplasia icd11.foundation:215376282 Nezelof syndrome OMIM:242700 thymic aplasia icd11.foundation:215376282 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome icd11.foundation:1427330812 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome icd11.foundation:1427330812 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebello-oculo-renal syndrome cerebello-oculo-renal syndrome Cerebello-oculo-renal syndrome icd11.foundation:397835469 Joubert syndrome with oculorenal defect GARD:0009455 cerebello-oculo-renal syndrome icd11.foundation:397835469 @@ -205,7 +156,6 @@ MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 hyalinosis cutis Et mucosae icd11.foundation:326368380 MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda icd11.foundation:1850911834 Mal de Meleda OMIM:248300 MAL DE Meleda icd11.foundation:1850911834 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia icd11.foundation:1687046570 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia icd11.foundation:1687046570 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy icd11.foundation:1756335062 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 MANDIBULOACRAL dysplasia with type A lipodystrophy icd11.foundation:1756335062 MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency icd11.foundation:1944256516 Alpha-mannosidosis OMIM:248500 lysosomal Alpha-D-mannosidase deficiency icd11.foundation:1944256516 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency Lysosomal beta-mannosidase deficiency icd11.foundation:1578707401 Beta-mannosidosis OMIM:248510 lysosomal Beta-mannosidase deficiency icd11.foundation:1578707401 @@ -218,16 +168,9 @@ MONDO:0009610 3-methylglutaconic aciduria type 1 oio:hasExactSynonym oio:hasRela MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A OMIM:252900 heparan sulfate sulfatase deficiency icd11.foundation:182200345 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym N-Acetyl-Alpha-D-glucosaminidase deficiency N-Acetyl-Alpha-D-glucosaminidase deficiency N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B OMIM:252920 N-Acetyl-Alpha-D-glucosaminidase deficiency icd11.foundation:117303909 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 Mucopolysaccharidosis type 3D GARD:0007074 N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia icd11.foundation:673220507 Myelofibrosis with myeloid metaplasia OMIM:254450, Orphanet:824 myelofibrosis with myeloid metaplasia icd11.foundation:673220507 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis icd11.foundation:1061366491 AL amyloidosis OMIM:254500 Al amyloidosis icd11.foundation:1061366491 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome icd11.foundation:1014397110 Juvenile myoclonic epilepsy DOID:4890, OMIM:254770 Janz syndrome icd11.foundation:1014397110 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease icd11.foundation:1797493665 Netherton syndrome OMIM:256500 Netherton disease icd11.foundation:1797493665 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis icd11.foundation:1154773192 Sialidosis type 1 OMIM:256550 lipomucopolysaccharidosis icd11.foundation:1154773192 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type 1 mucolipidosis type 1 Mucolipidosis type 1 icd11.foundation:1180347697 Sialidosis GARD:0007183 mucolipidosis type 1 icd11.foundation:1180347697 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis icd11.foundation:1180347697 Sialidosis DOID:3343 sialidosis icd11.foundation:1180347697 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis icd11.foundation:979972142 Glycoproteinosis DOID:3343 glycoproteinosis icd11.foundation:979972142 MONDO:0009742 neuroectodermal melanolysosomal disease oio:hasExactSynonym oio:hasRelatedSynonym ELEJALDE disease ELEJALDE disease Elejalde disease icd11.foundation:771734461 Neuroectodermal melanolysosomal disease OMIM:256710 ELEJALDE disease icd11.foundation:771734461 -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelinase deficiency sphingomyelinase deficiency Sphingomyelinase deficiency icd11.foundation:398872780 Niemann-Pick disease OMIM:257200 sphingomyelinase deficiency icd11.foundation:398872780 MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia icd11.foundation:2147268863 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 OPSISMODYSPLASIA icd11.foundation:2147268863 MONDO:0009787 3-methylglutaconic aciduria type 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy plus syndrome optic atrophy plus syndrome Optic atrophy plus syndrome icd11.foundation:535412248 3-methylglutaconic aciduria type 3 OMIM:258501 optic atrophy plus syndrome icd11.foundation:535412248 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria icd11.foundation:449856959 Hereditary orotic aciduria Orphanet:30 hereditary orotic aciduria icd11.foundation:449856959 @@ -235,29 +178,18 @@ MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital lipomatosis of pancreas congenital lipomatosis of pancreas Congenital lipomatosis of pancreas icd11.foundation:232885463 Shwachman-Diamond syndrome GARD:0004863 congenital lipomatosis of pancreas icd11.foundation:232885463 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis GARD:0007708 Dawson encephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Subacute sclerosing leukoencephalitis subacute sclerosing leukoencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis icd11.foundation:1098683540 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus icd11.foundation:1959912502 Choroid plexus tumours OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus icd11.foundation:1959912502 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym imbecilitus phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria imbecilitus phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia Phenylpyruvica oligophrenia Phenylpyruvica oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria OMIM:261600 oligophrenia Phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria oligophrenia phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym phenylpyruvic oligophrenia icd11.foundation:2084504393 Classical phenylketonuria phenylpyruvic oligophrenia icd11.foundation:2084504393 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence icd11.foundation:136361299 Pierre Robin syndrome OMIM:261800, MESH:D010855 Pierre Robin sequence icd11.foundation:136361299 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome icd11.foundation:136361299 Pierre Robin syndrome MONDO:Lexical, OMIM:261800 Pierre Robin syndrome icd11.foundation:136361299 MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome icd11.foundation:1665498704 Short stature due to growth hormone qualitative anomaly OMIM:262650 KOWARSKI syndrome icd11.foundation:1665498704 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum icd11.foundation:1516160852 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum icd11.foundation:1516160852 -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome icd11.foundation:834369371 Multiple pterygium syndrome OMIM:265000, GARD:0007111 multiple pterygium syndrome icd11.foundation:834369371 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary atresia with intact ventricular septum icd11.foundation:131289265 Pulmonary atresia with intact ventricular septum OMIM:265150 pulmonary atresia with intact ventricular septum icd11.foundation:131289265 MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic aciduria icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria OMIM:266130 pyroglutamic aciduria icd11.foundation:2005562438 -MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym ataxia with lactic acidosis 2 icd11.foundation:1124597954 Pyruvate dehydrogenase complex deficiency OMIM:266150 ataxia with lactic acidosis 2 icd11.foundation:1124597954 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency icd11.foundation:2047948460 Pyruvate carboxylase deficiency OMIM:266150 pyruvate carboxylase deficiency icd11.foundation:2047948460 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis icd11.foundation:191424358 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 renal tubular dysgenesis icd11.foundation:191424358 MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma congenitale poikiloderma congenitale Poikiloderma congenitale icd11.foundation:652761118 Rothmund-Thomson syndrome GARD:0004392 poikiloderma congenitale icd11.foundation:652761118 MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym total hexosaminidase deficiency total hexosaminidase deficiency Total hexosaminidase deficiency icd11.foundation:708581915 Sandhoff disease GARD:0007604 total hexosaminidase deficiency icd11.foundation:708581915 MONDO:0010074 brachyolmia type 1, toledo type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 1, Toledo type brachyolmia type 1, Toledo type Brachyolmia type 1, Toledo type icd11.foundation:637954533 Brachyolmia type 1, Toledo type OMIM:271630, MONDO:Lexical brachyolmia type 1, Toledo type icd11.foundation:637954533 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease Canavan-van Bogaert-Bertrand disease icd11.foundation:1576870846 Canavan disease OMIM:271900 Canavan-Van Bogaert-Bertrand disease icd11.foundation:1576870846 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system icd11.foundation:1576870846 Canavan disease OMIM:271900 spongy Degeneration of central nervous system icd11.foundation:1576870846 -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis icd11.foundation:1947032348 Infantile bilateral striatal necrosis OMIM:271930 infantile bilateral striatal necrosis icd11.foundation:1947032348 MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency icd11.foundation:848083807 Mucosulfatidosis MONDO:Lexical, OMIM:272200 multiple sulfatase deficiency icd11.foundation:848083807 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome icd11.foundation:1989471300 Filippi syndrome OMIM:272440 FILIPPI syndrome icd11.foundation:1989471300 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease icd11.foundation:215008783 Tay-Sachs disease OMIM:272800 TAY-Sachs disease icd11.foundation:215008783 @@ -266,9 +198,6 @@ MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym tyrosine transaminase deficiency tyrosine transaminase deficiency Tyrosine transaminase deficiency icd11.foundation:1900229795 Tyrosinaemia type 2 OMIM:276600 tyrosine transaminase deficiency icd11.foundation:1900229795 MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency urocanase deficiency Urocanase deficiency icd11.foundation:61773927 Urocanic aciduria OMIM:276880, MONDO:Lexical urocanase deficiency icd11.foundation:61773927 MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome icd11.foundation:2042913723 Weaver syndrome OMIM:277590 WEAVER syndrome icd11.foundation:2042913723 -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy icd11.foundation:1360335041 Wernicke encephalopathy NCIT:C35764 Wernicke encephalopathy icd11.foundation:1360335041 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenoleukodystrophy adrenoleukodystrophy Adrenoleukodystrophy icd11.foundation:1085655586 Adrenoleukodystrophy MONDO:Lexical, OMIM:300100 adrenoleukodystrophy icd11.foundation:1085655586 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy icd11.foundation:1214673956 Adrenomyeloneuropathy OMIM:300100 adrenomyeloneuropathy icd11.foundation:1214673956 MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALLAN-Herndon-DUDLEY syndrome ALLAN-Herndon-DUDLEY syndrome Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome OMIM:300523 ALLAN-Herndon-DUDLEY syndrome icd11.foundation:56813604 MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 X-linked myopathy with postural muscle atrophy OMIM:300696 Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease icd11.foundation:290885874 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 BORNHOLM eye disease icd11.foundation:290885874 @@ -283,23 +212,17 @@ MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome icd11.foundation:937544163 Early-onset parkinsonism - intellectual deficit MONDO:Lexical, OMIM:311510 WAISMAN syndrome icd11.foundation:937544163 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym juvenile retinoschisis juvenile retinoschisis Juvenile retinoschisis icd11.foundation:2074506458 Juvenile retinoschisis GARD:0004690 juvenile retinoschisis icd11.foundation:2074506458 MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym focal lipid cardiomyopathy icd11.foundation:1870618141 Histiocytoid cardiomyopathy GARD:0009511 focal lipid cardiomyopathy icd11.foundation:1870618141 -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia plus syndrome icd11.foundation:1698427219 Progressive external ophthalmoplegia GARD:0006817 ophthalmoplegia plus syndrome icd11.foundation:1698427219 MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculocraniosomatic syndrome icd11.foundation:399100745 Kearns-Sayre syndrome OMIM:530000 oculocraniosomatic syndrome icd11.foundation:399100745 MONDO:0010794 NARP syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, ataxia, and retinitis pigmentosa neuropathy, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 Neuropathy, ataxia, and retinitis pigmentosa OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 MONDO:0010805 bladder exstrophy oio:hasExactSynonym oio:hasRelatedSynonym exstrophy of bladder icd11.foundation:1927556258 Exstrophy of urinary bladder OMIM:600057 exstrophy of bladder icd11.foundation:1927556258 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia icd11.foundation:669154658 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA icd11.foundation:669154658 MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym loose anagen hair syndrome loose anagen hair syndrome Loose anagen hair syndrome icd11.foundation:547259783 Loose anagen syndrome OMIM:600628 loose anagen hair syndrome icd11.foundation:547259783 -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia icd11.foundation:2056675356 Anotia MESH:D065817 anotia icd11.foundation:2056675356 MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome icd11.foundation:1740735985 Van den Ende-Gupta syndrome OMIM:600920 VAN DEN Ende-Gupta syndrome icd11.foundation:1740735985 MONDO:0011017 Naxos disease oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 Naxos disease OMIM:601214 keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency icd11.foundation:952591271 Mucopolysaccharidosis type 9 OMIM:601492 hyaluronidase deficiency icd11.foundation:952591271 MONDO:0011244 Marshall-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall-SMITH syndrome Marshall-SMITH syndrome Marshall-Smith syndrome icd11.foundation:417951600 Marshall-Smith syndrome OMIM:602535 Marshall-SMITH syndrome icd11.foundation:417951600 -MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 icd11.foundation:119724091 Type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical DM2 icd11.foundation:119724091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym pauciarticular juvenile arthritis icd11.foundation:1990556904 Juvenile idiopathic oligoarthritis DOID:676 pauciarticular juvenile arthritis icd11.foundation:1990556904 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy icd11.foundation:1491869639 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy icd11.foundation:1491869639 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial allergic rhinitis icd11.foundation:1273917262 Perennial allergic rhinitis DOID:4481 perennial allergic rhinitis icd11.foundation:1273917262 MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy icd11.foundation:868183264 Psoriatic arthritis DOID:9008 psoriatic arthropathy icd11.foundation:868183264 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukaemia chronic myelomonocytic leukaemia Chronic myelomonocytic leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 chronic myelomonocytic leukaemia icd11.foundation:2073226578 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type B lipodystrophy MANDIBULOACRAL dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy icd11.foundation:1199517264 Mandibuloacral dysplasia with type B lipodystrophy OMIM:608612 MANDIBULOACRAL dysplasia with type B lipodystrophy icd11.foundation:1199517264 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dopa decarboxylase deficiency Dopa decarboxylase deficiency DOPA decarboxylase deficiency icd11.foundation:1134258245 Aromatic L-amino acid decarboxylase deficiency OMIM:608643 Dopa decarboxylase deficiency icd11.foundation:1134258245 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency icd11.foundation:1018083832 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency icd11.foundation:1018083832 @@ -316,56 +239,34 @@ MONDO:0013164 beta-ureidopropionase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome icd11.foundation:833375162 Warsaw breakage syndrome OMIM:613398 WARSAW breakage syndrome icd11.foundation:833375162 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency icd11.foundation:824872160 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency icd11.foundation:824872160 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency icd11.foundation:11281354 Pancreatic colipase deficiency OMIM:614338 pancreatic colipase deficiency icd11.foundation:11281354 MONDO:0013873 IMAGe syndrome oio:hasExactSynonym oio:hasRelatedSynonym intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 IMAGe syndrome GARD:0012312 intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency oio:hasExactSynonym oio:hasNarrowSynonym isolated ATP synthase deficiency isolated ATP synthase deficiency Isolated ATP synthase deficiency icd11.foundation:902255625 Isolated ATP synthase deficiency Orphanet:254913 isolated ATP synthase deficiency icd11.foundation:902255625 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour laryngeal neuroendocrine tumour Laryngeal neuroendocrine tumour icd11.foundation:1502591214 Laryngeal endocrine tumour http://purl.obolibrary.org/obo/OMO_0003005 laryngeal neuroendocrine tumour icd11.foundation:1502591214 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency icd11.foundation:1616506198 Combined immunodeficiencies Orphanet:101972 combined T and B cell immunodeficiency icd11.foundation:1616506198 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann disease icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 Kostmann disease icd11.foundation:421553273 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 Kostmann syndrome icd11.foundation:421553273 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 amyoplasia congenita icd11.foundation:1930990330 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 congenital amyoplasia icd11.foundation:1930990330 MONDO:0015228 pentasomy X oio:hasExactSynonym oio:hasRelatedSynonym Pentasomy X syndrome Pentasomy X syndrome pentasomy x syndrome icd11.foundation:2087864894 Pentasomy X GARD:0005678 Pentasomy X syndrome icd11.foundation:2087864894 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis icd11.foundation:592711730 Chronic obliterative bronchiolitis Orphanet:1303, DOID:2799 obliterative bronchiolitis icd11.foundation:592711730 MONDO:0015274 chronic beryllium disease oio:hasExactSynonym oio:hasRelatedSynonym beryllium disease icd11.foundation:212013370 Berylliosis GARD:0000867 beryllium disease icd11.foundation:212013370 MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasRelatedSynonym Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 Carney complex GARD:0001119 Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy early juvenile type icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis amaurotic idiocy early juvenile type icd11.foundation:1716107919 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy late infantile type icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis amaurotic idiocy late infantile type icd11.foundation:1923920542 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky syndrome dollinger-Bielschowsky syndrome Dollinger-Bielschowsky syndrome icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis dollinger-Bielschowsky syndrome icd11.foundation:1923920542 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky type neuronal ceroid lipofuscinosis dollinger-Bielschowsky type neuronal ceroid lipofuscinosis Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 MONDO:0015772 trisomy 8q oio:hasExactSynonym oio:hasRelatedSynonym 8q duplication icd11.foundation:573390171 8q duplication GARD:0005362 8q duplication icd11.foundation:573390171 -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 Hoyeraal-Hreidarsson syndrome GARD:0010905 Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia icd11.foundation:172733763 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia congenital adrenal hyperplasia icd11.foundation:172733763 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym oio:hasRelatedSynonym embryofetopathy due to oral anticoagulant therapy embryofetopathy due to oral anticoagulant therapy Embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 Embryofetopathy due to oral anticoagulant therapy GARD:0008580 embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 MONDO:0016013 fetal methylmercury syndrome oio:hasExactSynonym oio:hasRelatedSynonym Minamata disease icd11.foundation:1975519045 Fetal methylmercury syndrome Orphanet:1917 Minamata disease icd11.foundation:1975519045 MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease icd11.foundation:327350590 Rippling muscle disease with myasthenia gravis Orphanet:206575 acquired rippling muscle disease icd11.foundation:327350590 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia atrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 myotonia atrophica icd11.foundation:192087511 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia dystrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 myotonia dystrophica icd11.foundation:192087511 -MONDO:0016158 narcolepsy-cataplexy syndrome oio:hasExactSynonym oio:hasRelatedSynonym narcoleptic syndrome icd11.foundation:1201727099 Narcolepsy GARD:0007162 narcoleptic syndrome icd11.foundation:1201727099 -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome icd11.foundation:646523932 Neuromyotonia DOID:963 Isaacs syndrome icd11.foundation:646523932 -MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine disease icd11.foundation:1237620397 Cystinuria GARD:0006236 cystine disease icd11.foundation:1237620397 MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine diathesis cystine diathesis Cystine diathesis icd11.foundation:733715856 Cystinosis GARD:0006236 cystine diathesis icd11.foundation:733715856 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia icd11.foundation:774373615 Alternating hemiplegia GARD:0000011 alternating hemiplegia icd11.foundation:774373615 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis icd11.foundation:544509908 Adult dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis icd11.foundation:544509908 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis icd11.foundation:727262285 Amyopathic dermatomyositis DOID:10223, MESH:C538250 Amyopathic dermatomyositis icd11.foundation:727262285 MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSynonym familial cerebral saccular aneurysm familial cerebral saccular aneurysm Familial cerebral saccular aneurysm icd11.foundation:59881644 Familial cerebral saccular aneurysm Orphanet:231160 familial cerebral saccular aneurysm icd11.foundation:59881644 MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic adenomatoid malformation congenital cystic adenomatoid malformation Congenital cystic adenomatoid malformation icd11.foundation:2091138945 Congenital pulmonary airway malformations GARD:0006232 congenital cystic adenomatoid malformation icd11.foundation:2091138945 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis icd11.foundation:870477963 Aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis icd11.foundation:870477963 MONDO:0016812 dopa-responsive dystonia oio:hasExactSynonym oio:hasRelatedSynonym DYT5 icd11.foundation:1534901505 Dopa-responsive dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009817 DYT5 icd11.foundation:1534901505 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele icd11.foundation:1200528084 Myelomeningocele NCIT:C101201 myelomeningocele icd11.foundation:1200528084 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida icd11.foundation:187581000 Spina bifida aperta MESH:D016137 open spina bifida icd11.foundation:187581000 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 spina bifida aperta icd11.foundation:187581000 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida manifesta spina bifida manifesta Spina bifida manifesta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 spina bifida manifesta icd11.foundation:187581000 -MONDO:0017086 primary tethered cord syndrome oio:hasExactSynonym oio:hasRelatedSynonym occult spinal dysraphism occult spinal dysraphism Occult spinal dysraphism icd11.foundation:449489594 Occult spinal dysraphism GARD:0004018 occult spinal dysraphism icd11.foundation:449489594 MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym onchocercosis icd11.foundation:106136071 Onchocerciasis onchocercosis icd11.foundation:106136071 MONDO:0017194 Blount disease oio:hasExactSynonym oio:hasRelatedSynonym tibia vara icd11.foundation:138830223 Blount disease GARD:0000916 tibia vara icd11.foundation:138830223 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis echinococcosis Echinococcosis icd11.foundation:1456802165 Echinococcosis GARD:0000207 echinococcosis icd11.foundation:1456802165 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis DOID:12148 echinococcus multilocularis infection icd11.foundation:1456802165 MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym post polio syndrome icd11.foundation:2018885243 Post polio progressive muscular atrophy GARD:0004454 post polio syndrome icd11.foundation:2018885243 -MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym oio:hasRelatedSynonym fifth disease fifth disease Fifth disease icd11.foundation:352375140 Erythema infectiosum GARD:0004236 fifth disease icd11.foundation:352375140 MONDO:0017471 congenital patella dislocation oio:hasExactSynonym oio:hasRelatedSynonym congenital patellar dislocation icd11.foundation:1383302301 Congenital patella dislocation GARD:0009692 congenital patellar dislocation icd11.foundation:1383302301 -MONDO:0017720 GM2 gangliosidosis oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 Tay-Sachs disease GARD:0002522 GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease icd11.foundation:2129350166 Melioidosis GARD:0009546 Whitmore disease icd11.foundation:2129350166 MONDO:0017776 nocardiosis oio:hasExactSynonym oio:hasRelatedSynonym Nocardia infection Nocardia infection nocardia infection icd11.foundation:6555116 Nocardiosis GARD:0007210 Nocardia infection icd11.foundation:6555116 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma icd11.foundation:71413945 Malignant peripheral nerve sheath tumour of cranial or paraspinal nerves NCIT:C3798, Orphanet:3148 neurofibrosarcoma icd11.foundation:71413945 @@ -377,55 +278,41 @@ MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy synd MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy d1 trisomy icd11.foundation:1435958084 Complete trisomy 13 NCIT:C36529, DOID:11665 D1 trisomy icd11.foundation:1435958084 MONDO:0018103 Quinquaud's folliculitis decalvans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis decalvans folliculitis decalvans Folliculitis decalvans icd11.foundation:1454811046 Folliculitis decalvans GARD:0000373 folliculitis decalvans icd11.foundation:1454811046 MONDO:0018150 Gaucher disease oio:hasExactSynonym oio:hasRelatedSynonym cerebroside lipidosis syndrome cerebroside lipidosis syndrome Cerebroside lipidosis syndrome icd11.foundation:1923566939 Gaucher disease cerebroside lipidosis syndrome icd11.foundation:1923566939 -MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis Orphanet:391504 neonatal myasthenia gravis icd11.foundation:1274860004 MONDO:0018334 chronic hiccup oio:hasExactSynonym oio:hasRelatedSynonym chronic hiccups chronic hiccups Chronic hiccups icd11.foundation:1300687612 Chronic hiccups GARD:0006657 chronic hiccups icd11.foundation:1300687612 -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome icd11.foundation:131153029 Adrenogenital disorders NCIT:C34360 adrenogenital syndrome icd11.foundation:131153029 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym creeping eruption creeping eruption Creeping eruption icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 creeping eruption icd11.foundation:657025682 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym dew itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 dew itch icd11.foundation:657025682 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym ground itch ground itch Ground itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 ground itch icd11.foundation:657025682 MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis icd11.foundation:1152878652 Hereditary amyloidosis GARD:0006611 familial amyloidosis icd11.foundation:1152878652 MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym oio:hasRelatedSynonym pure progressive muscular atrophy icd11.foundation:1282359533 Progressive muscular atrophy DOID:318 pure progressive muscular atrophy icd11.foundation:1282359533 -MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym ocular pemphigoid ocular pemphigoid Ocular pemphigoid icd11.foundation:953963439 Mucous membrane pemphigoid with ocular involvement SCTID:34250006, DOID:11656 ocular pemphigoid icd11.foundation:953963439 MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria icd11.foundation:1932140025 Familial cold autoinflammatory syndrome Orphanet:47045 familial cold urticaria icd11.foundation:1932140025 MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy icd11.foundation:554018956 Asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy icd11.foundation:554018956 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym keratosis pilaris keratosis pilaris Keratosis pilaris icd11.foundation:1614890502 Keratosis pilaris MESH:C537412, GARD:0001042, OMIM:604093 keratosis pilaris icd11.foundation:1614890502 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes icd11.foundation:1628738474 Berardinelli-Seip congenital lipodystrophy Orphanet:528 lipoatrophic diabetes icd11.foundation:1628738474 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalised lipodystrophy congenital generalised lipodystrophy Congenital generalised lipodystrophy icd11.foundation:641763399 Congenital generalised lipodystrophy http://purl.obolibrary.org/obo/OMO_0003005 congenital generalised lipodystrophy icd11.foundation:641763399 MONDO:0018895 Plummer-Vinson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Paterson-Kelly syndrome icd11.foundation:1568337509 Plummer-Vinson syndrome GARD:0008259 Paterson-Kelly syndrome icd11.foundation:1568337509 MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism icd11.foundation:1654321425 Cushing syndrome Orphanet:553 hypercortisolism icd11.foundation:1654321425 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia icd11.foundation:771587091 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia icd11.foundation:771587091 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 DiGeorge sequence icd11.foundation:1868156761 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 DiGeorge syndrome icd11.foundation:1868156761 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 velocardiofacial syndrome icd11.foundation:1868156761 MONDO:0018924 microphthalmia, Lenz type oio:hasExactSynonym oio:hasRelatedSynonym syndromic microphthalmia type 1 syndromic microphthalmia type 1 Syndromic microphthalmia type 1 icd11.foundation:678242327 Microphthalmia, Lenz type GARD:0000087 syndromic microphthalmia type 1 icd11.foundation:678242327 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B DOID:12801 N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 DOID:12804 galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenia icd11.foundation:1515367530 Congenital myasthenic syndromes GARD:0011902 congenital myasthenia icd11.foundation:1515367530 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy icd11.foundation:946166369 Molar pregnancy NCIT:C3110, DOID:3590 molar pregnancy icd11.foundation:946166369 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans icd11.foundation:1294270721 Myotonia fluctuans OMIM:608390 Myotonia Fluctuans icd11.foundation:1294270721 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens icd11.foundation:2133644550 Myotonia permanens OMIM:608390 Myotonia Permanens icd11.foundation:2133644550 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen disease icd11.foundation:337970533 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease icd11.foundation:337970533 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, peripheral type neurofibromatosis, peripheral type Neurofibromatosis, peripheral type icd11.foundation:337970533 Neurofibromatosis type 1 OMIM:162200 neurofibromatosis, peripheral type icd11.foundation:337970533 MONDO:0018978 IgG4-related mediastinitis oio:hasExactSynonym oio:hasRelatedSynonym idiopathic mediastinal fibrosis icd11.foundation:123840075 Fibrosing mediastinitis GARD:0008337 idiopathic mediastinal fibrosis icd11.foundation:123840075 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym stress-induced cardiomyopathy stress-induced cardiomyopathy Stress-induced cardiomyopathy icd11.foundation:478139552 Stress-induced cardiomyopathy GARD:0009400 stress-induced cardiomyopathy icd11.foundation:478139552 MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Fragilitas ossium icd11.foundation:1219932551 Osteogenesis imperfecta DOID:12347 Fragilitas ossium icd11.foundation:1219932551 -MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Vrolik disease icd11.foundation:2024049157 Osteogenesis imperfecta type 2 GARD:0001017 Vrolik disease icd11.foundation:2024049157 MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym infection by Yersinia pestis infection by Yersinia pestis infection by yersinia pestis icd11.foundation:1596449540 Plague infection by Yersinia pestis icd11.foundation:1596449540 MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym pestilential fever icd11.foundation:1596449540 Plague pestilential fever icd11.foundation:1596449540 MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome icd11.foundation:744293382 Neuromyelitis optica GARD:0006267 Devic syndrome icd11.foundation:744293382 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency icd11.foundation:381622932 MONDO:0019155 Leydig cell hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 Leydig cell hypoplasia GARD:0003244 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 -MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency icd11.foundation:1366882206 Vitamin B12 deficiency DOID:0050731 cobalamin deficiency icd11.foundation:1366882206 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder icd11.foundation:1919322367 Disorders of peroxisome biogenesis ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder icd11.foundation:1919322367 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym disorders of peroxisome biogenesis disorders of peroxisome biogenesis Disorders of peroxisome biogenesis icd11.foundation:1919322367 Disorders of peroxisome biogenesis GARD:0009473 disorders of peroxisome biogenesis icd11.foundation:1919322367 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis icd11.foundation:600146417 Lamellar ichthyosis DOID:1699 lamellar ichthyosis icd11.foundation:600146417 MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma icd11.foundation:1796778763 Microcystic lymphatic malformation Orphanet:79490 capillary lymphangioma icd11.foundation:1796778763 MONDO:0019350 hereditary spherocytosis oio:hasExactSynonym oio:hasRelatedSynonym congenital spherocytosis icd11.foundation:1305248013 Hereditary spherocytosis GARD:0006639 congenital spherocytosis icd11.foundation:1305248013 MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym sao Paulo typhus sao Paulo typhus Sao Paulo typhus icd11.foundation:215936800 Spotted fever due to Rickettsia rickettsii DOID:0050052 sao Paulo typhus icd11.foundation:215936800 MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym Mite-borne typhus Mite-borne typhus mite-borne typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 Mite-borne typhus icd11.foundation:1695340384 MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym tropical typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 tropical typhus icd11.foundation:1695340384 MONDO:0019399 Isaac syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuromyotonia neuromyotonia Neuromyotonia icd11.foundation:646523932 Neuromyotonia GARD:0006793 neuromyotonia icd11.foundation:646523932 -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Beta-2-microglobulin amyloidosis Beta-2-microglobulin amyloidosis beta-2-microglobulin amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis GARD:0010563 Beta-2-microglobulin amyloidosis icd11.foundation:448754119 MONDO:0019444 trichinellosis oio:hasExactSynonym oio:hasRelatedSynonym trichiniasis trichiniasis Trichiniasis icd11.foundation:284613639 Trichinosis GARD:0005250 trichiniasis icd11.foundation:284613639 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 Acute myeloid leukaemia with myelodysplasia-related changes http://purl.obolibrary.org/obo/OMO_0003005 acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym aggressive NK cell leukaemia aggressive NK cell leukaemia Aggressive NK cell leukaemia icd11.foundation:153957345 Aggressive NK cell leukaemia http://purl.obolibrary.org/obo/OMO_0003005 aggressive NK cell leukaemia icd11.foundation:153957345 @@ -437,15 +324,12 @@ MONDO:0019547 Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wells' sy MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid lupus erythematosus icd11.foundation:153320433 Lupus erythematosus tumidus GARD:0013003 tumid lupus erythematosus icd11.foundation:153320433 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym von Willebrand disease von Willebrand disease Von Willebrand disease icd11.foundation:2112021600 Von Willebrand disease DOID:12531, Orphanet:903 von Willebrand disease icd11.foundation:2112021600 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular haemophilia vascular haemophilia Vascular haemophilia icd11.foundation:2112021600 Von Willebrand disease http://purl.obolibrary.org/obo/OMO_0003005 vascular haemophilia icd11.foundation:2112021600 -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym oio:hasRelatedSynonym postpartum panhypopituitary syndrome icd11.foundation:768216194 Hypopituitarism GARD:0007630 postpartum panhypopituitary syndrome icd11.foundation:768216194 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 +MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome icd11.foundation:20634476 VIPoma Orphanet:97282 WDHA syndrome icd11.foundation:20634476 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym oio:hasNarrowSynonym nonsyndromic pontocerebellar hypoplasia nonsyndromic pontocerebellar hypoplasia Nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 Pontocerebellar hypoplasia ORCID:0000-0002-6601-2165, Orphanet:98523 nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukaemia acute myelomonocytic leukaemia Acute myelomonocytic leukaemia icd11.foundation:1613358778 Acute myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 acute myelomonocytic leukaemia icd11.foundation:1613358778 MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired pure red cell aplasia icd11.foundation:45753120 Acquired pure red cell aplasia GARD:0010898 acquired pure red cell aplasia icd11.foundation:45753120 MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym oio:hasRelatedSynonym ostium secundum atrial septal defect ostium secundum atrial septal defect Ostium secundum atrial septal defect icd11.foundation:1875768490 Atrial septal defect within oval fossa GARD:0005865 ostium secundum atrial septal defect icd11.foundation:1875768490 -MONDO:0020492 hemimegalencephaly oio:hasExactSynonym oio:hasRelatedSynonym macrencephaly macrencephaly Macrencephaly icd11.foundation:368780653 Megalencephaly GARD:0002637 macrencephaly icd11.foundation:368780653 MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis DOID:12096 spirillosis icd11.foundation:1104357482 MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis DOID:13238 Streptobacillosis icd11.foundation:614000128 MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym Capillary pneumonia Capillary pneumonia capillary pneumonia icd11.foundation:1310075986 Acute bronchiolitis UMLS:C0001311 Capillary pneumonia icd11.foundation:1310075986 @@ -462,7 +346,6 @@ MONDO:0020971 gonococcal urethritis oio:hasExactSynonym oio:hasRelatedSynonym Go MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous Prostatitis Granulomatous Prostatitis Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis NCIT:C26789 Granulomatous Prostatitis icd11.foundation:66037326 MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis UMLS:C0018204 Granulomatous prostatitis icd11.foundation:66037326 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia icd11.foundation:988250063 Hereditary hyperekplexia Orphanet:3197 hyperekplexia icd11.foundation:988250063 -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute respiratory failure icd11.foundation:875272781 Acute respiratory failure NCIT:C27043, DOID:11162 acute respiratory failure icd11.foundation:875272781 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus Hypertrophic Lichen Planus Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus NCIT:C34779 Hypertrophic Lichen Planus icd11.foundation:1096967508 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 Hypertrophic lichen planus icd11.foundation:1096967508 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Lichen planus hypertrophicus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 Lichen planus hypertrophicus icd11.foundation:1096967508 @@ -507,8 +390,6 @@ MONDO:0024333 sciatica oio:hasExactSynonym oio:hasRelatedSynonym sciatic neuralg MONDO:0024346 pityriasis amiantacea oio:hasExactSynonym oio:hasRelatedSynonym tinea amiantacea tinea amiantacea Tinea amiantacea icd11.foundation:210953452 Pityriasis amiantacea tinea amiantacea icd11.foundation:210953452 MONDO:0024652 embryonic cyst of fallopian tube oio:hasExactSynonym oio:hasRelatedSynonym cyst of mesenteric remnant icd11.foundation:440178290 Embryonic cyst of fallopian tube cyst of mesenteric remnant icd11.foundation:440178290 MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type oio:hasExactSynonym oio:hasRelatedSynonym SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE Spondyloepiphyseal dysplasia, Nishimura type icd11.foundation:523290419 Spondyloepiphyseal dysplasia, Nishimura type OMIM:618618 SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE icd11.foundation:523290419 -MONDO:0041751 multibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym lepromatous leprosy lepromatous leprosy Lepromatous leprosy icd11.foundation:365370459 Lepromatous leprosy PMID:27219008, ORCID:0000-0002-6601-2165 lepromatous leprosy icd11.foundation:365370459 -MONDO:0041752 paucibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym tuberculoid leprosy tuberculoid leprosy Tuberculoid leprosy icd11.foundation:310697776 Tuberculoid leprosy ORCID:0000-0002-6601-2165, PMID:27219008 tuberculoid leprosy icd11.foundation:310697776 MONDO:0042981 aortic valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular aortic stenosis icd11.foundation:956813047 Aortic valve stenosis GARD:0005830 valvular aortic stenosis icd11.foundation:956813047 MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossalgia glossalgia Glossalgia icd11.foundation:1755751917 Glossodynia glossalgia icd11.foundation:1755751917 MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossopyrosis glossopyrosis Glossopyrosis icd11.foundation:1755751917 Glossodynia MESH:D005926 glossopyrosis icd11.foundation:1755751917 @@ -525,4 +406,3 @@ MONDO:0043765 presbycusis oio:hasExactSynonym oio:hasRelatedSynonym senile deafn MONDO:0043783 sclerema neonatorum oio:hasExactSynonym oio:hasRelatedSynonym underwood's disease underwood's disease Underwood's disease icd11.foundation:1470028414 Sclerema neonatorum underwood's disease icd11.foundation:1470028414 MONDO:0043919 radiation pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym radiation pneumonia icd11.foundation:1914397767 Radiation pneumonitis MESH:D017564 radiation pneumonia icd11.foundation:1914397767 MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis icd11.foundation:1920929898 Acquired adrenocortical insufficiency NCIT:C113814 autoimmune adrenalitis icd11.foundation:1920929898 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome icd11.foundation:1685926536 Haddad syndrome OMIM:209880 Haddad syndrome icd11.foundation:1685926536 diff --git a/src/ontology/reports/sync-synonym/ncit.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/ncit.synonyms.confirmed.robot.tsv index 3e107509..5759ef01 100644 --- a/src/ontology/reports/sync-synonym/ncit.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/ncit.synonyms.confirmed.robot.tsv @@ -34,8 +34,8 @@ MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym WWS NCIT:C99109 Walker-Warburg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WWS NCIT:C99109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym nuclear localization signal nuclear localization signal Nuclear Localization Signal NCIT:C14089 Nuclear Localization Signal nuclear localization signal NCIT:C14089 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VFib NCIT:C50799 Ventricular Fibrillation VFib NCIT:C50799 -MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation Ventricular Fibrillation NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 +MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VF NCIT:C50799 Ventricular Fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VF NCIT:C50799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia Autosomal Recessive Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia autosomal recessive infantile hypercalcemia NCIT:C129734 MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym idiopathic infantile hypercalcemia idiopathic infantile hypercalcemia Idiopathic Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia http://purl.obolibrary.org/obo/mondo#DEPRECATED idiopathic infantile hypercalcemia NCIT:C129734 @@ -184,8 +184,8 @@ MONDO:0000473 arterial disorder oio:hasExactSynonym arterial disorder arterial MONDO:0000473 arterial disorder oio:hasExactSynonym arteriopathy arteriopathy Arteriopathy NCIT:C35317 Arterial Disorder arteriopathy NCIT:C35317 MONDO:0000490 glomerulosclerosis oio:hasExactSynonym glomerular sclerosis glomerular sclerosis Glomerular Sclerosis NCIT:C120888 Glomerulosclerosis glomerular sclerosis NCIT:C120888 MONDO:0000495 oppositional defiant disorder oio:hasExactSynonym oppositional defiant disorder oppositional defiant disorder Oppositional Defiant Disorder NCIT:C92565 Oppositional Defiant Disorder oppositional defiant disorder NCIT:C92565 -MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra pyometra NCIT:C121207 MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra Pyometra NCIT:C121207 Pyometra pyometra NCIT:C121207 +MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra pyometra NCIT:C121207 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of the tongue scc of the tongue SCC of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma scc of the tongue NCIT:C4648 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of tongue scc of tongue SCC of Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma scc of tongue NCIT:C4648 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tongue squamous cell carcinoma of the tongue Squamous Cell Carcinoma of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma squamous cell carcinoma of the tongue NCIT:C4648 @@ -224,8 +224,8 @@ MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic Paraganglionic neoplasm extra-adrenal sympathetic Paraganglionic neoplasm Extra-Adrenal Sympathetic Paraganglionic Neoplasm NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extra-adrenal sympathetic Paraganglionic neoplasm NCIT:C48576 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic paraganglioma extra-adrenal sympathetic paraganglioma Extra-Adrenal Sympathetic Paraganglioma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extra-adrenal sympathetic paraganglioma NCIT:C48576 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extraadrenal pheochromocytoma extraadrenal pheochromocytoma Extraadrenal Pheochromocytoma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extraadrenal pheochromocytoma NCIT:C48576 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular Adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 +MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular breast carcinoma lobular breast carcinoma Lobular Breast Carcinoma NCIT:C3771 Breast Lobular Carcinoma lobular breast carcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma lobular carcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular Carcinoma of Breast NCIT:C3771 Breast Lobular Carcinoma lobular carcinoma of breast NCIT:C3771 @@ -273,8 +273,6 @@ MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm benign osseous tumor NCIT:C4880 MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of bone benign tumor of bone Benign Tumor of Bone NCIT:C4880 Benign Bone Neoplasm benign tumor of bone NCIT:C4880 MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of the bone benign tumor of the bone Benign Tumor of the Bone NCIT:C4880 Benign Bone Neoplasm benign tumor of the bone NCIT:C4880 -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm benign osseous neoplasm NCIT:C6602 -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm benign osseous tumor NCIT:C6602 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous neoplasms, benign Uterous neoplasms, benign Uterous Neoplasms, Benign NCIT:C3609 Benign Uterine Neoplasm Uterous neoplasms, benign NCIT:C3609 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous tumors, benign Uterous tumors, benign Uterous Tumors, Benign NCIT:C3609 Benign Uterine Neoplasm Uterous tumors, benign NCIT:C3609 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym benign neoplasm of the uterus benign neoplasm of the uterus Benign Neoplasm of the Uterus NCIT:C3609 Benign Uterine Neoplasm benign neoplasm of the uterus NCIT:C3609 @@ -468,7 +466,6 @@ MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoblastic lymphoma MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoma, lymphoblastic, malignant lymphoma, lymphoblastic, malignant LYMPHOMA, LYMPHOBLASTIC, MALIGNANT NCIT:C9360 Lymphoblastic Lymphoma lymphoma, lymphoblastic, malignant NCIT:C9360 MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor cell lymphoblastic lymphoma precursor cell lymphoblastic lymphoma Precursor Cell Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma precursor cell lymphoblastic lymphoma NCIT:C9360 MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor lymphoblastic lymphoma precursor lymphoblastic lymphoma Precursor Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma precursor lymphoblastic lymphoma NCIT:C9360 -MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma T lymphoblastic lymphoma NCIT:C6919 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma T lymphoblastic lymphoma NCIT:C7210 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood T lymphoblastic lymphoma childhood T lymphoblastic lymphoma Childhood T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma childhood T lymphoblastic lymphoma NCIT:C7210 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood precursor T-lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma Childhood Precursor T-Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma childhood precursor T-lymphoblastic lymphoma NCIT:C7210 @@ -494,8 +491,6 @@ MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant neoplasm of MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of Vater malignant tumor of ampulla of Vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of ampulla of Vater NCIT:C3536 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of vater malignant tumor of ampulla of vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of ampulla of vater NCIT:C3536 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of the ampulla of Vater malignant tumor of the ampulla of Vater Malignant Tumor of the Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of the ampulla of Vater NCIT:C3536 -MONDO:0000920 duodenum cancer oio:hasExactSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma cancer of duodenum NCIT:C4803 -MONDO:0000920 duodenum cancer oio:hasExactSynonym duodenal cancer duodenal cancer Duodenal Cancer NCIT:C4803 Duodenal Carcinoma duodenal cancer NCIT:C4803 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal neoplasm malignant duodenal neoplasm Malignant Duodenal Neoplasm NCIT:C9328 Malignant Duodenal Neoplasm malignant duodenal neoplasm NCIT:C9328 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal tumor malignant duodenal tumor Malignant Duodenal Tumor NCIT:C9328 Malignant Duodenal Neoplasm malignant duodenal tumor NCIT:C9328 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant neoplasm of duodenum malignant neoplasm of duodenum Malignant Neoplasm of Duodenum NCIT:C9328 Malignant Duodenal Neoplasm malignant neoplasm of duodenum NCIT:C9328 @@ -574,7 +569,6 @@ MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of sma MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of small intestine malignant tumor of small intestine Malignant Tumor of Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of small intestine NCIT:C7523 MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small bowel malignant tumor of the small bowel Malignant Tumor of the Small Bowel NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of the small bowel NCIT:C7523 MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small intestine malignant tumor of the small intestine Malignant Tumor of the Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of the small intestine NCIT:C7523 -MONDO:0000956 small intestine cancer oio:hasExactSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma small intestine cancer NCIT:C7724 MONDO:0000960 diabetic peripheral angiopathy oio:hasExactSynonym diabetic vascular disorder diabetic vascular disorder Diabetic Vascular Disorder NCIT:C35610 Diabetic Vascular Disorder diabetic vascular disorder NCIT:C35610 MONDO:0000961 endobronchial lipoma oio:hasExactSynonym endobronchial lipoma endobronchial lipoma Endobronchial Lipoma NCIT:C5063 Endobronchial Lipoma endobronchial lipoma NCIT:C5063 MONDO:0000962 spindle cell lipoma oio:hasExactSynonym spindle cell lipoma spindle cell lipoma Spindle Cell Lipoma NCIT:C4254 Spindle Cell Lipoma spindle cell lipoma NCIT:C4254 @@ -590,8 +584,8 @@ MONDO:0000965 liver lipoma oio:hasExactSynonym hepatic lipoma hepatic lipoma He MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of liver lipoma of liver Lipoma of Liver NCIT:C5750 Liver Lipoma lipoma of liver NCIT:C5750 MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of the liver lipoma of the liver Lipoma of the Liver NCIT:C5750 Liver Lipoma lipoma of the liver NCIT:C5750 MONDO:0000965 liver lipoma oio:hasExactSynonym liver lipoma liver lipoma Liver Lipoma NCIT:C5750 Liver Lipoma liver lipoma NCIT:C5750 -MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 +MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 MONDO:0000967 conventional lipoma oio:hasExactSynonym classic type lipoma classic type lipoma Classic Type Lipoma NCIT:C27530 Conventional Lipoma classic type lipoma NCIT:C27530 MONDO:0000967 conventional lipoma oio:hasExactSynonym conventional lipoma conventional lipoma Conventional Lipoma NCIT:C27530 Conventional Lipoma conventional lipoma NCIT:C27530 MONDO:0000968 kidney lipoma oio:hasExactSynonym kidney lipoma kidney lipoma Kidney Lipoma NCIT:C5101 Kidney Lipoma kidney lipoma NCIT:C5101 @@ -667,10 +661,6 @@ MONDO:0001045 intestinal atresia oio:hasExactSynonym congenital intestinal atre MONDO:0001045 intestinal atresia oio:hasExactSynonym intestinal atresia intestinal atresia Intestinal Atresia NCIT:C84790 Intestinal Atresia intestinal atresia NCIT:C84790 MONDO:0001046 imperforate anus oio:hasExactSynonym anal atresia anal atresia Anal Atresia NCIT:C84784 Imperforate Anus anal atresia NCIT:C84784 MONDO:0001046 imperforate anus oio:hasExactSynonym imperforate anus imperforate anus Imperforate Anus NCIT:C84784 Imperforate Anus imperforate anus NCIT:C84784 -MONDO:0001056 gastric cancer oio:hasExactSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma cancer of stomach NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma gastric cancer NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma stomach cancer NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym GC NCIT:C92950 Gonorrhea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GC NCIT:C92950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric neoplasm malignant gastric neoplasm Malignant Gastric Neoplasm NCIT:C9331 Malignant Gastric Neoplasm malignant gastric neoplasm NCIT:C9331 MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric tumor malignant gastric tumor Malignant Gastric Tumor NCIT:C9331 Malignant Gastric Neoplasm malignant gastric tumor NCIT:C9331 MONDO:0001056 gastric cancer oio:hasExactSynonym malignant neoplasm of stomach malignant neoplasm of stomach Malignant Neoplasm of Stomach NCIT:C9331 Malignant Gastric Neoplasm malignant neoplasm of stomach NCIT:C9331 @@ -745,8 +735,6 @@ MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nas MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of the nasal cavity malignant neoplasm of the nasal cavity Malignant Neoplasm of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant neoplasm of the nasal cavity NCIT:C4918 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of nasal cavity malignant tumor of nasal cavity Malignant Tumor of Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant tumor of nasal cavity NCIT:C4918 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity malignant tumor of the nasal cavity Malignant Tumor of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant tumor of the nasal cavity NCIT:C4918 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma cancer of nasal cavity NCIT:C9336 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma nasal cavity cancer NCIT:C9336 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma nasal cavity olfactory neuroblastoma Nasal Cavity Olfactory Neuroblastoma NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma nasal cavity olfactory neuroblastoma NCIT:C7604 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of nasal cavity olfactory neuroblastoma of nasal cavity Olfactory Neuroblastoma of Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma olfactory neuroblastoma of nasal cavity NCIT:C7604 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory Neuroblastoma of the Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma olfactory neuroblastoma of the nasal cavity NCIT:C7604 @@ -764,9 +752,7 @@ MONDO:0001147 meningocele oio:hasExactSynonym central nervous system meningocel MONDO:0001147 meningocele oio:hasExactSynonym meningocele meningocele Meningocele NCIT:C105595 Meningocele meningocele NCIT:C105595 MONDO:0001149 microcephaly oio:hasExactSynonym microcephalus microcephalus Microcephalus NCIT:C85874 Microcephaly microcephalus NCIT:C85874 MONDO:0001149 microcephaly oio:hasExactSynonym microcephaly microcephaly Microcephaly NCIT:C85874 Microcephaly microcephaly NCIT:C85874 -MONDO:0001156 borderline personality disorder oio:hasExactSynonym BPD NCIT:C90599 Bronchopulmonary Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BPD NCIT:C90599 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder borderline personality disorder Borderline Personality Disorder NCIT:C92633 Borderline Personality Disorder borderline personality disorder NCIT:C92633 -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative Identity Disorder NCIT:C94330 Dissociative Identity Disorder dissociative identity disorder NCIT:C94330 MONDO:0001162 impulse control disorder oio:hasExactSynonym impulse-control disorder impulse-control disorder Impulse-Control Disorder NCIT:C34723 Impulse-Control Disorder impulse-control disorder NCIT:C34723 @@ -777,8 +763,6 @@ MONDO:0001167 spastic diplegia oio:hasExactSynonym Little's disease Little's di MONDO:0001172 salpingo-oophoritis oio:hasExactSynonym Tubo-ovarian inflammatory disease Tubo-ovarian inflammatory disease Tubo-Ovarian Inflammatory Disease NCIT:C171201 Salpingo-Oophoritis Tubo-ovarian inflammatory disease NCIT:C171201 MONDO:0001174 conjunctival vascular disorder oio:hasExactSynonym conjunctival vascular disorder conjunctival vascular disorder Conjunctival Vascular Disorder NCIT:C35116 Conjunctival Vascular Disorder conjunctival vascular disorder NCIT:C35116 MONDO:0001176 lens disorder oio:hasExactSynonym lens disorder lens disorder Lens Disorder NCIT:C26812 Lens Disorder lens disorder NCIT:C26812 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym cancer of urinary bladder cancer of urinary bladder Cancer of Urinary Bladder NCIT:C4912 Bladder Carcinoma cancer of urinary bladder NCIT:C4912 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym urinary bladder cancer urinary bladder cancer Urinary Bladder Cancer NCIT:C4912 Bladder Carcinoma urinary bladder cancer NCIT:C4912 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder neoplasm malignant bladder neoplasm Malignant Bladder Neoplasm NCIT:C9334 Malignant Bladder Neoplasm malignant bladder neoplasm NCIT:C9334 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder tumor malignant bladder tumor Malignant Bladder Tumor NCIT:C9334 Malignant Bladder Neoplasm malignant bladder tumor NCIT:C9334 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant neoplasm of bladder malignant neoplasm of bladder Malignant Neoplasm of Bladder NCIT:C9334 Malignant Bladder Neoplasm malignant neoplasm of bladder NCIT:C9334 @@ -902,7 +886,6 @@ MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis neopla MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis tumor malignant subglottis tumor Malignant Subglottis Tumor NCIT:C3546 Malignant Subglottis Neoplasm malignant subglottis tumor NCIT:C3546 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of subglottis malignant tumor of subglottis Malignant Tumor of Subglottis NCIT:C3546 Malignant Subglottis Neoplasm malignant tumor of subglottis NCIT:C3546 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of the subglottis malignant tumor of the subglottis Malignant Tumor of the Subglottis NCIT:C3546 Malignant Subglottis Neoplasm malignant tumor of the subglottis NCIT:C3546 -MONDO:0001293 subglottis cancer oio:hasExactSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma cancer of subglottis NCIT:C5972 MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner syndrome Horner syndrome Horner Syndrome NCIT:C28155 Horner Syndrome Horner syndrome NCIT:C28155 MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner's syndrome Horner's syndrome Horner's Syndrome NCIT:C28155 Horner Syndrome Horner's syndrome NCIT:C28155 MONDO:0001297 cardiac tamponade oio:hasExactSynonym pericardial tamponade pericardial tamponade Pericardial Tamponade NCIT:C50481 Cardiac Tamponade pericardial tamponade NCIT:C50481 @@ -923,8 +906,6 @@ MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile neoplasm malig MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile tumor malignant penile tumor Malignant Penile Tumor NCIT:C7547 Malignant Penile Neoplasm malignant penile tumor NCIT:C7547 MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of penis malignant tumor of penis Malignant Tumor of Penis NCIT:C7547 Malignant Penile Neoplasm malignant tumor of penis NCIT:C7547 MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of the penis malignant tumor of the penis Malignant Tumor of the Penis NCIT:C7547 Malignant Penile Neoplasm malignant tumor of the penis NCIT:C7547 -MONDO:0001325 penile cancer oio:hasExactSynonym cancer of penis cancer of penis Cancer of Penis NCIT:C9061 Penile Carcinoma cancer of penis NCIT:C9061 -MONDO:0001325 penile cancer oio:hasExactSynonym penile cancer penile cancer Penile Cancer NCIT:C9061 Penile Carcinoma penile cancer NCIT:C9061 MONDO:0001340 heart cancer oio:hasExactSynonym Cardiac neoplasm, malignant Cardiac neoplasm, malignant Cardiac Neoplasm, Malignant NCIT:C3548 Malignant Cardiac Neoplasm Cardiac neoplasm, malignant NCIT:C3548 MONDO:0001340 heart cancer oio:hasExactSynonym heart cancer heart cancer Heart Cancer NCIT:C3548 Malignant Cardiac Neoplasm heart cancer NCIT:C3548 MONDO:0001340 heart cancer oio:hasExactSynonym malignant Cardiac neoplasm malignant Cardiac neoplasm Malignant Cardiac Neoplasm NCIT:C3548 Malignant Cardiac Neoplasm malignant Cardiac neoplasm NCIT:C3548 @@ -978,8 +959,6 @@ MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter neurilemmoma uret MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter schwannoma ureter schwannoma Ureter Schwannoma NCIT:C6162 Ureter Schwannoma ureter schwannoma NCIT:C6162 MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral neurilemmoma ureteral neurilemmoma Ureteral Neurilemmoma NCIT:C6162 Ureter Schwannoma ureteral neurilemmoma NCIT:C6162 MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral schwannoma ureteral schwannoma Ureteral Schwannoma NCIT:C6162 Ureter Schwannoma ureteral schwannoma NCIT:C6162 -MONDO:0001402 vaginal cancer oio:hasExactSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma cancer of vagina NCIT:C3917 -MONDO:0001402 vaginal cancer oio:hasExactSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma vagina cancer NCIT:C3917 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of the vagina malignant neoplasm of the vagina Malignant Neoplasm of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant neoplasm of the vagina NCIT:C7410 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of vagina malignant neoplasm of vagina Malignant Neoplasm of Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant neoplasm of vagina NCIT:C7410 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant tumor of the vagina malignant tumor of the vagina Malignant Tumor of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant tumor of the vagina NCIT:C7410 @@ -1024,8 +1003,6 @@ MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal neoplasm m MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal tumor malignant tracheal tumor Malignant Tracheal Tumor NCIT:C9346 Malignant Tracheal Neoplasm malignant tracheal tumor NCIT:C9346 MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of the trachea malignant tumor of the trachea Malignant Tumor of the Trachea NCIT:C9346 Malignant Tracheal Neoplasm malignant tumor of the trachea NCIT:C9346 MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of trachea malignant tumor of trachea Malignant Tumor of Trachea NCIT:C9346 Malignant Tracheal Neoplasm malignant tumor of trachea NCIT:C9346 -MONDO:0001407 tracheal cancer oio:hasExactSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma cancer of trachea NCIT:C9347 -MONDO:0001407 tracheal cancer oio:hasExactSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma trachea cancer NCIT:C9347 MONDO:0001409 esophagitis oio:hasExactSynonym esophagitis esophagitis Esophagitis NCIT:C9224 Esophagitis esophagitis NCIT:C9224 MONDO:0001414 osteopoikilosis oio:hasExactSynonym osteopoikilosis osteopoikilosis Osteopoikilosis NCIT:C84985 Osteopoikilosis osteopoikilosis NCIT:C84985 MONDO:0001415 atrophy of testis oio:hasExactSynonym testicular atrophy testicular atrophy Testicular Atrophy NCIT:C123259 Testicular Atrophy testicular atrophy NCIT:C123259 @@ -1120,7 +1097,6 @@ MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of lab MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of the labia minora malignant neoplasm of the labia minora Malignant Neoplasm of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant neoplasm of the labia minora NCIT:C7637 MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of labia minora malignant tumor of labia minora Malignant Tumor of Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant tumor of labia minora NCIT:C7637 MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of the labia minora malignant tumor of the labia minora Malignant Tumor of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant tumor of the labia minora NCIT:C7637 -MONDO:0001528 vulva cancer oio:hasExactSynonym vulvar cancer vulvar cancer Vulvar Cancer NCIT:C4866 Vulvar Carcinoma vulvar cancer NCIT:C4866 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of the vulva malignant neoplasm of the vulva Malignant Neoplasm of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant neoplasm of the vulva NCIT:C7502 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of vulva malignant neoplasm of vulva Malignant Neoplasm of Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant neoplasm of vulva NCIT:C7502 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant tumor of the vulva malignant tumor of the vulva Malignant Tumor of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant tumor of the vulva NCIT:C7502 @@ -1180,7 +1156,6 @@ MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of la MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of the lacrimal duct malignant neoplasm of the lacrimal duct Malignant Neoplasm of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant neoplasm of the lacrimal duct NCIT:C3567 MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of lacrimal duct malignant tumor of lacrimal duct Malignant Tumor of Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant tumor of lacrimal duct NCIT:C3567 MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of the lacrimal duct malignant tumor of the lacrimal duct Malignant Tumor of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant tumor of the lacrimal duct NCIT:C3567 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I Mucopolysaccharidosis Type I NCIT:C85053 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I mucopolysaccharidosis type I NCIT:C85053 MONDO:0001590 quadriplegia oio:hasExactSynonym bilateral diplegia bilateral diplegia Bilateral Diplegia NCIT:C50721 Quadriplegia bilateral diplegia NCIT:C50721 @@ -1411,8 +1386,8 @@ MONDO:0001825 squamous papilloma oio:hasExactSynonym epidermoid papilloma epide MONDO:0001825 squamous papilloma oio:hasExactSynonym keratotic papilloma keratotic papilloma Keratotic Papilloma NCIT:C3712 Squamous Papilloma keratotic papilloma NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym papilloma, squamous cell, benign papilloma, squamous cell, benign PAPILLOMA, SQUAMOUS CELL, BENIGN NCIT:C3712 Squamous Papilloma papilloma, squamous cell, benign NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous cell papilloma squamous cell papilloma Squamous Cell Papilloma NCIT:C3712 Squamous Papilloma squamous cell papilloma NCIT:C3712 -MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous Papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 +MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 MONDO:0001832 bacterial esophagitis oio:hasExactSynonym bacterial esophagitis bacterial esophagitis Bacterial Esophagitis NCIT:C27106 Bacterial Esophagitis bacterial esophagitis NCIT:C27106 MONDO:0001834 visual pathway disorder oio:hasExactSynonym visual pathway disorder visual pathway disorder Visual Pathway Disorder NCIT:C35342 Visual Pathway Disorder visual pathway disorder NCIT:C35342 MONDO:0001836 amenorrhea oio:hasExactSynonym amenorrhea amenorrhea Amenorrhea NCIT:C61443 Amenorrhea amenorrhea NCIT:C61443 @@ -1441,7 +1416,6 @@ MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of anus malign MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of the anus malignant neoplasm of the anus Malignant Neoplasm of the Anus NCIT:C7379 Malignant Anal Neoplasm malignant neoplasm of the anus NCIT:C7379 MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of anus malignant tumor of anus Malignant Tumor of Anus NCIT:C7379 Malignant Anal Neoplasm malignant tumor of anus NCIT:C7379 MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of the anus malignant tumor of the anus Malignant Tumor of the Anus NCIT:C7379 Malignant Anal Neoplasm malignant tumor of the anus NCIT:C7379 -MONDO:0001879 anus cancer oio:hasExactSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma cancer of anus NCIT:C9291 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome toxic shock syndrome Toxic Shock Syndrome NCIT:C35498 Toxic Shock Syndrome toxic shock syndrome NCIT:C35498 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS NCIT:C35498 Toxic Shock Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TSS NCIT:C35498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve neoplasms VIth cranial nerve neoplasms VIth Cranial Nerve Neoplasms NCIT:C5826 Abducens Nerve Neoplasm VIth cranial nerve neoplasms NCIT:C5826 @@ -1597,12 +1571,10 @@ MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym methylmalonic aciduria methylmalonic aciduria Methylmalonic Aciduria NCIT:C98986 Methylmalonic Acidemia methylmalonic aciduria NCIT:C98986 MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma NCIT:C8965 Lymphangioma lymphangioma NCIT:C8965 MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma, benign lymphangioma, benign LYMPHANGIOMA, BENIGN NCIT:C8965 Lymphangioma lymphangioma, benign NCIT:C8965 -MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 WADIA-swami syndrome NCIT:C148315 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disease Psychiatric disease Psychiatric Disease NCIT:C2893 Psychiatric Disorder Psychiatric disease NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder NCIT:C2893 Psychiatric Disorder Psychiatric disorder NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder Psychiatric disorder Psychiatric Disorder NCIT:C2893 Psychiatric Disorder Psychiatric disorder NCIT:C2893 MONDO:0002026 candidiasis oio:hasExactSynonym Candida infection Candida infection Candida Infection NCIT:C26711 Candidiasis Candida infection NCIT:C26711 -MONDO:0002026 candidiasis oio:hasExactSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis thrush NCIT:C28137 MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder personality disorder Personality Disorder NCIT:C34922 Personality Disorder personality disorder NCIT:C34922 MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of colon carcinoma of colon Carcinoma of Colon NCIT:C4910 Colon Carcinoma carcinoma of colon NCIT:C4910 MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of the colon carcinoma of the colon Carcinoma of the Colon NCIT:C4910 Colon Carcinoma carcinoma of the colon NCIT:C4910 @@ -1634,7 +1606,6 @@ MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcino MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder cognitive disorder Cognitive Disorder NCIT:C92196 Cognitive Disorder cognitive disorder NCIT:C92196 MONDO:0002041 fungal infectious disease oio:hasExactSynonym mycosis mycosis Mycosis NCIT:C3245 Fungal Infection mycosis NCIT:C3245 MONDO:0002045 communicating hydrocephalus oio:hasExactSynonym non-obstructive hydrocephalus non-obstructive hydrocephalus Non-Obstructive Hydrocephalus NCIT:C34501 Communicating Hydrocephalus non-obstructive hydrocephalus NCIT:C34501 -MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia immune thrombocytopenia NCIT:C3446 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction immune thrombocytopenia NCIT:C3991 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym thrombocytopenia due to immune destruction thrombocytopenia due to immune destruction Thrombocytopenia Due to Immune Destruction NCIT:C3991 Thrombocytopenia Due to Immune Destruction thrombocytopenia due to immune destruction NCIT:C3991 MONDO:0002050 depressive disorder oio:hasExactSynonym depression depression Depression NCIT:C2982 Depression depression NCIT:C2982 @@ -1652,10 +1623,10 @@ MONDO:0002056 breast fibroadenoma oio:hasExactSynonym fibroadenoma, benign fibr MONDO:0002057 breast leiomyoma oio:hasExactSynonym breast leiomyoma breast leiomyoma Breast Leiomyoma NCIT:C40399 Breast Leiomyoma breast leiomyoma NCIT:C40399 MONDO:0002058 breast adenoma oio:hasExactSynonym breast adenoma breast adenoma Breast Adenoma NCIT:C40382 Breast Adenoma breast adenoma NCIT:C40382 MONDO:0002060 intraductal papilloma oio:hasExactSynonym duct adenoma duct adenoma Duct Adenoma NCIT:C3785 Intraductal Papilloma duct adenoma NCIT:C3785 -MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal Papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 -MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 +MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal Papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 +MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 MONDO:0002061 intraductal papillary breast neoplasm oio:hasExactSynonym intraductal papillary breast neoplasm intraductal papillary breast neoplasm Intraductal Papillary Breast Neoplasm NCIT:C36090 Breast Intraductal Papillary Neoplasm intraductal papillary breast neoplasm NCIT:C36090 MONDO:0002062 breast myofibroblastoma oio:hasExactSynonym breast myofibroblastoma breast myofibroblastoma Breast Myofibroblastoma NCIT:C40397 Breast Myofibroblastoma breast myofibroblastoma NCIT:C40397 MONDO:0002065 benign breast adenomyoepithelioma oio:hasExactSynonym benign adenomyoepithelioma of breast benign adenomyoepithelioma of breast Benign Adenomyoepithelioma of Breast NCIT:C5144 Benign Breast Adenomyoepithelioma benign adenomyoepithelioma of breast NCIT:C5144 @@ -1764,7 +1735,6 @@ MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of facial nerve t MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of seventh cranial nerve tumor of seventh cranial nerve Tumor of Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of seventh cranial nerve NCIT:C5827 MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the Facial nerve tumor of the Facial nerve Tumor of the Facial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of the Facial nerve NCIT:C5827 MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the seventh cranial nerve tumor of the seventh cranial nerve Tumor of the Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of the seventh cranial nerve NCIT:C5827 -MONDO:0002108 thyroid cancer oio:hasExactSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma thyroid gland cancer NCIT:C4815 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid malignant neoplasm of the thyroid Malignant Neoplasm of the Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of the thyroid NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid gland malignant neoplasm of the thyroid gland Malignant Neoplasm of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of the thyroid gland NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of thyroid malignant neoplasm of thyroid Malignant Neoplasm of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of thyroid NCIT:C7510 @@ -1777,8 +1747,6 @@ MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid gland malignant tumor of the thyroid gland Malignant Tumor of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of the thyroid gland NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid malignant tumor of thyroid Malignant Tumor of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of thyroid NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid gland malignant tumor of thyroid gland Malignant Tumor of Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of thyroid gland NCIT:C7510 -MONDO:0002109 pituitary cancer oio:hasExactSynonym cancer of pituitary gland cancer of pituitary gland Cancer of Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor cancer of pituitary gland NCIT:C4536 -MONDO:0002109 pituitary cancer oio:hasExactSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor pituitary gland cancer NCIT:C4536 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary malignant neoplasm of pituitary Malignant Neoplasm of Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of pituitary NCIT:C4769 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary gland malignant neoplasm of pituitary gland Malignant Neoplasm of Pituitary Gland NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of pituitary gland NCIT:C4769 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of the pituitary malignant neoplasm of the pituitary Malignant Neoplasm of the Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of the pituitary NCIT:C4769 @@ -1813,16 +1781,15 @@ MONDO:0002118 urinary system disorder oio:hasExactSynonym disorder of urinary s MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary system disorder urinary system disorder Urinary System Disorder NCIT:C3430 Urinary System Disorder urinary system disorder NCIT:C3430 MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary tract disorder NCIT:C3430 Urinary System Disorder urinary tract disorder NCIT:C3430 MONDO:0002118 urinary system disorder oio:hasExactSynonym urologic disorder urologic disorder Urologic Disorder NCIT:C3430 Urinary System Disorder urologic disorder NCIT:C3430 -MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying Fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 -MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 +MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma Cementifying fibroma Cementifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 +MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-Ossifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma cemento-ossifying fibroma NCIT:C8422 MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-ossifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma cemento-ossifying fibroma NCIT:C8422 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine cancer neuroendocrine cancer Neuroendocrine Cancer NCIT:C3773 Neuroendocrine Carcinoma neuroendocrine cancer NCIT:C3773 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine carcinoma neuroendocrine carcinoma Neuroendocrine Carcinoma NCIT:C3773 Neuroendocrine Carcinoma neuroendocrine carcinoma NCIT:C3773 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002123 calcinosis oio:hasExactSynonym calcification calcification Calcification NCIT:C3672 Calcification calcification NCIT:C3672 MONDO:0002127 urethral stricture oio:hasExactSynonym urethral stricture urethral stricture Urethral Stricture NCIT:C79821 Urethral Stricture urethral stricture NCIT:C79821 MONDO:0002128 mononeuritis multiplex oio:hasExactSynonym mononeuritis multiplex mononeuritis multiplex Mononeuritis Multiplex NCIT:C70938 Mononeuritis Multiplex mononeuritis multiplex NCIT:C70938 @@ -1860,14 +1827,14 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storifor MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storiform-pleomorphic malignant fibrous histiocytoma Storiform-pleomorphic malignant fibrous histiocytoma Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma Storiform-pleomorphic malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma fibroxanthosarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym histiocytoma, fibrous, malignant histiocytoma, fibrous, malignant Histiocytoma, Fibrous, Malignant NCIT:C4247 Undifferentiated Pleomorphic Sarcoma histiocytoma, fibrous, malignant NCIT:C4247 -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of soft tissue and bone Malignant Fibrous Histiocytoma of Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma of soft tissue and bone NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of the soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone Malignant Fibrous Histiocytoma of the Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma of the soft tissue and bone NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma malignant fibroxanthoma Malignant Fibroxanthoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibroxanthoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym unclassified pleomorphic sarcoma unclassified pleomorphic sarcoma Unclassified Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma unclassified pleomorphic sarcoma NCIT:C4247 -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic soft tissue sarcoma undifferentiated pleomorphic soft tissue sarcoma Undifferentiated Pleomorphic Soft Tissue Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic soft tissue sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MFH NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym UPS NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION UPS NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1888,8 +1855,6 @@ MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproduc MONDO:0002154 trichomoniasis oio:hasExactSynonym Trichomonas infection Trichomonas infection Trichomonas Infection NCIT:C35720 Trichomonas Infection Trichomonas infection NCIT:C35720 MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disease fallopian tube disease Fallopian Tube Disease NCIT:C26771 Fallopian Tube Disorder fallopian tube disease NCIT:C26771 MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disorder fallopian tube disorder Fallopian Tube Disorder NCIT:C26771 Fallopian Tube Disorder fallopian tube disorder NCIT:C26771 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym cancer of fallopian tube cancer of fallopian tube Cancer of Fallopian Tube NCIT:C3867 Fallopian Tube Carcinoma cancer of fallopian tube NCIT:C3867 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube cancer fallopian tube cancer Fallopian Tube Cancer NCIT:C3867 Fallopian Tube Carcinoma fallopian tube cancer NCIT:C3867 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant neoplasm fallopian tube malignant neoplasm Fallopian Tube Malignant Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm fallopian tube malignant neoplasm NCIT:C7480 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant tumor fallopian tube malignant tumor Fallopian Tube Malignant Tumor NCIT:C7480 Malignant Fallopian Tube Neoplasm fallopian tube malignant tumor NCIT:C7480 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym malignant fallopian tube neoplasm malignant fallopian tube neoplasm Malignant Fallopian Tube Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm malignant fallopian tube neoplasm NCIT:C7480 @@ -1945,8 +1910,8 @@ MONDO:0002185 hyperostosis oio:hasExactSynonym bone hypertrophy bone hypertroph MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disease vulvar disease Vulvar Disease NCIT:C27631 Vulvar Disorder vulvar disease NCIT:C27631 MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disorder vulvar disorder Vulvar Disorder NCIT:C27631 Vulvar Disorder vulvar disorder NCIT:C27631 MONDO:0002188 vulvar nodular hidradenoma oio:hasExactSynonym vulvar nodular hidradenoma vulvar nodular hidradenoma Vulvar Nodular Hidradenoma NCIT:C40312 Vulvar Nodular Hidradenoma vulvar nodular hidradenoma NCIT:C40312 -MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular Hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 +MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 MONDO:0002190 vulvar syringoma oio:hasExactSynonym vulvar syringoma vulvar syringoma Vulvar Syringoma NCIT:C40311 Vulvar Syringoma vulvar syringoma NCIT:C40311 MONDO:0002191 syringoma oio:hasExactSynonym eccrine syringoma eccrine syringoma Eccrine Syringoma NCIT:C3761 Syringoma eccrine syringoma NCIT:C3761 MONDO:0002191 syringoma oio:hasExactSynonym syringoma syringoma Syringoma NCIT:C3761 Syringoma syringoma NCIT:C3761 @@ -1963,8 +1928,8 @@ MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumo MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of skin (chondroid syringoma) benign mixed tumor of skin (chondroid syringoma) Benign Mixed Tumor of Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of skin (chondroid syringoma) NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin benign mixed tumor of the skin Benign Mixed Tumor of the Skin NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of the skin NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin (chondroid syringoma) benign mixed tumor of the skin (chondroid syringoma) Benign Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of the skin (chondroid syringoma) NCIT:C4474 -MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 +MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym mixed tumor of the skin (chondroid syringoma) mixed tumor of the skin (chondroid syringoma) Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin mixed tumor of the skin (chondroid syringoma) NCIT:C4474 MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoblastoma vulvar trichoblastoma Vulvar Trichoblastoma NCIT:C40314 Vulvar Trichoblastoma vulvar trichoblastoma NCIT:C40314 MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoepithelioma vulvar trichoepithelioma Vulvar Trichoepithelioma NCIT:C40314 Vulvar Trichoblastoma vulvar trichoepithelioma NCIT:C40314 @@ -2040,8 +2005,8 @@ MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of eye malignan MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of the eye malignant tumor of the eye Malignant Tumor of the Eye NCIT:C4767 Malignant Eye Neoplasm malignant tumor of the eye NCIT:C4767 MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency coagulation factor deficiency Coagulation Factor Deficiency NCIT:C27215 Coagulation Factor Deficiency coagulation factor deficiency NCIT:C27215 MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency syndrome coagulation factor deficiency syndrome Coagulation Factor Deficiency Syndrome NCIT:C27215 Coagulation Factor Deficiency coagulation factor deficiency syndrome NCIT:C27215 -MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 +MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding disorder bleeding disorder Bleeding Disorder NCIT:C115221 Bleeding Diathesis bleeding disorder NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding predisposition bleeding predisposition Bleeding Predisposition NCIT:C115221 Bleeding Diathesis bleeding predisposition NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding tendency bleeding tendency Bleeding Tendency NCIT:C115221 Bleeding Diathesis bleeding tendency NCIT:C115221 @@ -2195,10 +2160,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of glottis MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of the glottis malignant neoplasm of the glottis Malignant Neoplasm of the Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant neoplasm of the glottis NCIT:C3544 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis malignant tumor of glottis Malignant Tumor of Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant tumor of glottis NCIT:C3544 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis Malignant Tumor of the Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant tumor of the glottis NCIT:C3544 -MONDO:0002351 glottis cancer oio:hasExactSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma cancer of glottis NCIT:C4923 -MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer glottis cancer Glottis Cancer NCIT:C4923 Glottis Carcinoma glottis cancer NCIT:C4923 -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx cancer of larynx Cancer of Larynx NCIT:C4855 Laryngeal Carcinoma cancer of larynx NCIT:C4855 -MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer larynx cancer Larynx Cancer NCIT:C4855 Laryngeal Carcinoma larynx cancer NCIT:C4855 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal neoplasm malignant laryngeal neoplasm Malignant Laryngeal Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm malignant laryngeal neoplasm NCIT:C7484 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal tumor malignant laryngeal tumor Malignant Laryngeal Tumor NCIT:C7484 Malignant Laryngeal Neoplasm malignant laryngeal tumor NCIT:C7484 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant larynx neoplasm malignant larynx neoplasm Malignant Larynx Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm malignant larynx neoplasm NCIT:C7484 @@ -2260,12 +2221,10 @@ MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal neoplasm malign MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal tumor malignant renal tumor Malignant Renal Tumor NCIT:C7548 Malignant Kidney Neoplasm malignant renal tumor NCIT:C7548 MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of kidney malignant tumor of kidney Malignant Tumor of Kidney NCIT:C7548 Malignant Kidney Neoplasm malignant tumor of kidney NCIT:C7548 MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of the kidney malignant tumor of the kidney Malignant Tumor of the Kidney NCIT:C7548 Malignant Kidney Neoplasm malignant tumor of the kidney NCIT:C7548 -MONDO:0002367 kidney cancer oio:hasExactSynonym kidney cancer kidney cancer Kidney Cancer NCIT:C9384 Kidney Carcinoma kidney cancer NCIT:C9384 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary serous adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary Serous Cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 -MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma cystoma NCIT:C2964 +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma cystadenoma NCIT:C2972 MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma, benign cystadenoma, benign CYSTADENOMA, BENIGN NCIT:C2972 Cystadenoma cystadenoma, benign NCIT:C2972 MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma cystoma NCIT:C2972 @@ -2277,8 +2236,8 @@ MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner neoplas MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner tumor ovarian Brenner tumor Ovarian Brenner Tumor NCIT:C3872 Ovarian Brenner Tumor ovarian Brenner tumor NCIT:C3872 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym breast pericanalicular fibroadenoma breast pericanalicular fibroadenoma Breast Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma breast pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular breast fibroadenoma pericanalicular breast fibroadenoma Pericanalicular Breast Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular breast fibroadenoma NCIT:C4272 -MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 +MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of breast pericanalicular fibroadenoma of breast Pericanalicular Fibroadenoma of Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma of breast NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of the breast pericanalicular fibroadenoma of the breast Pericanalicular Fibroadenoma of the Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma of the breast NCIT:C4272 MONDO:0002372 ovarian monodermal and highly specialized teratoma oio:hasExactSynonym ovarian germ cell monodermal and highly specialized teratoma ovarian germ cell monodermal and highly specialized teratoma Ovarian Germ Cell Monodermal and Highly Specialized Teratoma NCIT:C8113 Ovarian Monodermal and Highly Specialized Teratoma ovarian germ cell monodermal and highly specialized teratoma NCIT:C8113 @@ -2386,8 +2345,8 @@ MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of skin inflammation MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of the skin inflammation of the skin Inflammation of the Skin NCIT:C2983 Dermatitis inflammation of the skin NCIT:C2983 MONDO:0002406 dermatitis oio:hasExactSynonym skin inflammation skin inflammation Skin Inflammation NCIT:C2983 Dermatitis skin inflammation NCIT:C2983 MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary angioma capillary angioma Capillary Angioma NCIT:C7457 Capillary Hemangioma capillary angioma NCIT:C7457 -MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 +MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym hereditary hyperbilirubinemia hereditary hyperbilirubinemia Hereditary Hyperbilirubinemia NCIT:C84761 Hereditary Hyperbilirubinemia hereditary hyperbilirubinemia NCIT:C84761 MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen Storage Disease NCIT:C61272 Glycogen Storage Disease glycogen storage disease NCIT:C61272 MONDO:0002413 glycogen storage disease I oio:hasExactSynonym Glycogen Storage Disease Type I NCIT:C84733 Glycogen Storage Disease Type I Glycogen Storage Disease Type I NCIT:C84733 @@ -2414,10 +2373,10 @@ MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym adenocarcinoma o MONDO:0002419 transient tic disorder oio:hasExactSynonym benign Tic disorder of childhood benign Tic disorder of childhood Benign Tic Disorder of Childhood NCIT:C116767 Transient Tic Disorder benign Tic disorder of childhood NCIT:C116767 MONDO:0002422 adamantinoma oio:hasExactSynonym Extragnathic adamantinoma Extragnathic adamantinoma Extragnathic Adamantinoma NCIT:C7644 Adamantinoma Extragnathic adamantinoma NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma adamantinoma NCIT:C7644 -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of long bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant ADAMANTINOMA, MALIGNANT NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of rectosigmoid junction neoplasm of rectosigmoid junction Neoplasm of Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm neoplasm of rectosigmoid junction NCIT:C4877 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of the rectosigmoid junction neoplasm of the rectosigmoid junction Neoplasm of the Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm neoplasm of the rectosigmoid junction NCIT:C4877 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym rectosigmoid neoplasm rectosigmoid neoplasm Rectosigmoid Neoplasm NCIT:C4877 Rectosigmoid Neoplasm rectosigmoid neoplasm NCIT:C4877 @@ -2520,8 +2479,8 @@ MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of lacrimal syst MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of the lacrimal system tumor of the lacrimal system Tumor of the Lacrimal System NCIT:C5102 Lacrimal System Neoplasm tumor of the lacrimal system NCIT:C5102 MONDO:0002461 membranoproliferative glomerulonephritis oio:hasExactSynonym membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis Membranoproliferative Glomerulonephritis NCIT:C34644 Membranoproliferative Glomerulonephritis membranoproliferative glomerulonephritis NCIT:C34644 MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerular nephritis glomerular nephritis Glomerular Nephritis NCIT:C26784 Glomerulonephritis glomerular nephritis NCIT:C26784 -MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis Glomerulonephritis NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 +MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of lacrimal gland carcinoma of lacrimal gland Carcinoma of Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma carcinoma of lacrimal gland NCIT:C6129 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of the lacrimal gland carcinoma of the lacrimal gland Carcinoma of the Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma carcinoma of the lacrimal gland NCIT:C6129 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym lacrimal gland carcinoma lacrimal gland carcinoma Lacrimal Gland Carcinoma NCIT:C6129 Lacrimal Gland Carcinoma lacrimal gland carcinoma NCIT:C6129 @@ -2603,14 +2562,13 @@ MONDO:0002492 acute kidney failure oio:hasExactSynonym acute kidney injury acut MONDO:0002492 acute kidney failure oio:hasExactSynonym acute renal failure acute renal failure Acute Renal Failure NCIT:C26808 Acute Renal Failure acute renal failure NCIT:C26808 MONDO:0002492 acute kidney failure oio:hasExactSynonym AKI NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AKI NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of prostate acinar adenocarcinoma of prostate Acinar Adenocarcinoma of Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma acinar adenocarcinoma of prostate NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of the prostate acinar adenocarcinoma of the prostate Acinar Adenocarcinoma of the Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma acinar adenocarcinoma of the prostate NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar prostate adenocarcinoma acinar prostate adenocarcinoma Acinar Prostate Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma acinar prostate adenocarcinoma NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostate acinar adenocarcinoma prostate acinar adenocarcinoma Prostate Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma prostate acinar adenocarcinoma NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostatic acinar adenocarcinoma prostatic acinar adenocarcinoma Prostatic Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma prostatic acinar adenocarcinoma NCIT:C5596 -MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-Related Disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 +MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colon signet Ring cell adenocarcinoma colon signet Ring cell adenocarcinoma Colon Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma colon signet Ring cell adenocarcinoma NCIT:C7967 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colonic signet Ring cell adenocarcinoma colonic signet Ring cell adenocarcinoma Colonic Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma colonic signet Ring cell adenocarcinoma NCIT:C7967 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym signet Ring cell adenocarcinoma of colon signet Ring cell adenocarcinoma of colon Signet Ring Cell Adenocarcinoma of Colon NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma signet Ring cell adenocarcinoma of colon NCIT:C7967 @@ -2633,7 +2591,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis gingivitis Gingivitis N MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym adenocarcinoma, papillary, malignant adenocarcinoma, papillary, malignant ADENOCARCINOMA, PAPILLARY, MALIGNANT NCIT:C2853 Papillary Adenocarcinoma adenocarcinoma, papillary, malignant NCIT:C2853 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C2853 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary Adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C2853 -MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C5472 Gastric Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C5472 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney neoplasm benign kidney neoplasm Benign Kidney Neoplasm NCIT:C4778 Benign Kidney Neoplasm benign kidney neoplasm NCIT:C4778 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney tumor benign kidney tumor Benign Kidney Tumor NCIT:C4778 Benign Kidney Neoplasm benign kidney tumor NCIT:C4778 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign neoplasm of kidney benign neoplasm of kidney Benign Neoplasm of Kidney NCIT:C4778 Benign Kidney Neoplasm benign neoplasm of kidney NCIT:C4778 @@ -2678,8 +2635,8 @@ MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym giant cell tumo MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell neoplasm tendon sheath giant cell neoplasm Tendon Sheath Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor tendon sheath giant cell neoplasm NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell tumor tendon sheath giant cell tumor Tendon Sheath Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tendon sheath giant cell tumor NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell neoplasm tenosynovial giant cell neoplasm Tenosynovial Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell neoplasm NCIT:C3402 -MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 +MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of synovium neoplasm of synovium Neoplasm of Synovium NCIT:C8964 Synovial Neoplasm neoplasm of synovium NCIT:C8964 MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of the synovium neoplasm of the synovium Neoplasm of the Synovium NCIT:C8964 Synovial Neoplasm neoplasm of the synovium NCIT:C8964 MONDO:0002528 synovium neoplasm oio:hasExactSynonym synovial neoplasm synovial neoplasm Synovial Neoplasm NCIT:C8964 Synovial Neoplasm synovial neoplasm NCIT:C8964 @@ -2737,8 +2694,8 @@ MONDO:0002546 schwannoma oio:hasExactSynonym benign schwannoma benign schwannom MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma neurilemmoma Neurilemmoma NCIT:C3269 Schwannoma neurilemmoma NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma neurinoma NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma schwannoma Schwannoma NCIT:C3269 Schwannoma schwannoma NCIT:C3269 -MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (WHO Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 +MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma, benign schwannoma, benign SCHWANNOMA, BENIGN NCIT:C3269 Schwannoma schwannoma, benign NCIT:C3269 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of nerve sheath neoplasm of nerve sheath Neoplasm of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm neoplasm of nerve sheath NCIT:C4972 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath Neoplasm of the Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm neoplasm of the nerve sheath NCIT:C4972 @@ -2747,8 +2704,8 @@ MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumor nerv MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym tumor of nerve sheath tumor of nerve sheath Tumor of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm tumor of nerve sheath NCIT:C4972 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurilemmoma cellular neurilemmoma Cellular Neurilemmoma NCIT:C4724 Cellular Schwannoma cellular neurilemmoma NCIT:C4724 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurinoma cellular neurinoma Cellular Neurinoma NCIT:C4724 Cellular Schwannoma cellular neurinoma NCIT:C4724 -MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 +MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve neurilemmoma hypoglossal nerve neurilemmoma Hypoglossal Nerve Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal nerve neurilemmoma NCIT:C5434 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve schwannoma hypoglossal nerve schwannoma Hypoglossal Nerve Schwannoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal nerve schwannoma NCIT:C5434 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal neurilemmoma hypoglossal neurilemmoma Hypoglossal Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal neurilemmoma NCIT:C5434 @@ -2819,8 +2776,8 @@ MONDO:0002556 microcystic/reticular schwannoma oio:hasExactSynonym microcystic/ MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic neurilemmoma melanocytic neurilemmoma Melanocytic Neurilemmoma NCIT:C6970 Melanotic Schwannoma melanocytic neurilemmoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic schwannoma melanocytic schwannoma Melanocytic Schwannoma NCIT:C6970 Melanotic Schwannoma melanocytic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic neurinoma melanotic neurinoma Melanotic Neurinoma NCIT:C6970 Melanotic Schwannoma melanotic neurinoma NCIT:C6970 -MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic Schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 +MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented neurilemmoma pigmented neurilemmoma Pigmented Neurilemmoma NCIT:C6970 Melanotic Schwannoma pigmented neurilemmoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented schwannoma NCIT:C6970 Melanotic Schwannoma pigmented schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented Schwannoma NCIT:C6970 Melanotic Schwannoma pigmented schwannoma NCIT:C6970 @@ -2861,9 +2818,8 @@ MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma oio:hasExactSyno MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma Extrahepatic Bile Duct Rhabdomyosarcoma NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma NCIT:C5860 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of extrahepatic bile duct rhabdomyosarcoma of extrahepatic bile duct Rhabdomyosarcoma of Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma rhabdomyosarcoma of extrahepatic bile duct NCIT:C5860 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of the extrahepatic bile duct rhabdomyosarcoma of the extrahepatic bile duct Rhabdomyosarcoma of the Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma rhabdomyosarcoma of the extrahepatic bile duct NCIT:C5860 -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 +MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma Botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma sarcoma botryoides NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma sarcoma botryoides NCIT:C9150 @@ -2905,11 +2861,10 @@ MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym malignant thymoma, MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym thymoma malignant invasive thymoma malignant invasive Thymoma Malignant Invasive NCIT:C7904 Invasive Malignant Thymoma thymoma malignant invasive NCIT:C7904 MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal neoplasm notochordal neoplasm Notochordal Neoplasm NCIT:C7063 Notochordal Tumor notochordal neoplasm NCIT:C7063 MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal tumor notochordal tumor Notochordal Tumor NCIT:C7063 Notochordal Tumor notochordal tumor NCIT:C7063 -MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed embryonal carcinoma and teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 +MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 MONDO:0002599 teratocarcinoma oio:hasExactSynonym teratocarcinoma teratocarcinoma Teratocarcinoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma teratocarcinoma NCIT:C3756 MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma teratoma NCIT:C3403 -MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma teratoma NCIT:C9013 MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disease central nervous system disease Central Nervous System Disease NCIT:C2934 Central Nervous System Disorder central nervous system disease NCIT:C2934 MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disorder central nervous system disorder Central Nervous System Disorder NCIT:C2934 Central Nervous System Disorder central nervous system disorder NCIT:C2934 MONDO:0002602 central nervous system disorder oio:hasExactSynonym disorder of central nervous system disorder of central nervous system Disorder of Central Nervous System NCIT:C2934 Central Nervous System Disorder disorder of central nervous system NCIT:C2934 @@ -2944,7 +2899,6 @@ MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym fibrosarcoma of the bone fi MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteogenic sarcoma localized osteogenic sarcoma Localized Osteogenic Sarcoma NCIT:C7780 Localized Osteosarcoma localized osteogenic sarcoma NCIT:C7780 MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteosarcoma localized osteosarcoma Localized Osteosarcoma NCIT:C7780 Localized Osteosarcoma localized osteosarcoma NCIT:C7780 MONDO:0002620 localized osteosarcoma oio:hasExactSynonym osteosarcoma, localized osteosarcoma, localized Osteosarcoma, Localized NCIT:C7780 Localized Osteosarcoma osteosarcoma, localized NCIT:C7780 -MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma extraskeletal osteosarcoma NCIT:C7925 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraosseous osteosarcoma extraosseous osteosarcoma Extraosseous Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraosseous osteosarcoma NCIT:C8810 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteogenic sarcoma extraskeletal osteogenic sarcoma Extraskeletal Osteogenic Sarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraskeletal osteogenic sarcoma NCIT:C8810 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraskeletal osteosarcoma NCIT:C8810 @@ -2985,8 +2939,8 @@ MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of spin MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the eleventh cranial nerve tumor of the eleventh cranial nerve Tumor of the Eleventh Cranial Nerve NCIT:C5829 Accessory Nerve Neoplasm tumor of the eleventh cranial nerve NCIT:C5829 MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the spinal accessory nerve tumor of the spinal accessory nerve Tumor of the Spinal Accessory Nerve NCIT:C5829 Accessory Nerve Neoplasm tumor of the spinal accessory nerve NCIT:C5829 MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteogenic sarcoma chondroblastic osteogenic sarcoma Chondroblastic Osteogenic Sarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteogenic sarcoma NCIT:C4021 -MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 +MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym bone surface (peripheral) osteosarcoma bone surface (peripheral) osteosarcoma Bone Surface (Peripheral) Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma bone surface (peripheral) osteosarcoma NCIT:C7134 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym peripheral osteosarcoma peripheral osteosarcoma Peripheral Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma peripheral osteosarcoma NCIT:C7134 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym surface osteosarcoma surface osteosarcoma Surface Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma surface osteosarcoma NCIT:C7134 @@ -2994,14 +2948,14 @@ MONDO:0002629 bone osteosarcoma oio:hasExactSynonym bone osteosarcoma bone oste MONDO:0002629 bone osteosarcoma oio:hasExactSynonym osteosarcoma of bone osteosarcoma of bone Osteosarcoma of Bone NCIT:C53707 Bone Osteosarcoma osteosarcoma of bone NCIT:C53707 MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small Cell Osteosarcoma NCIT:C4023 Small Cell Osteosarcoma small cell osteosarcoma NCIT:C4023 MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small cell osteosarcoma NCIT:C4023 Small Cell Osteosarcoma small cell osteosarcoma NCIT:C4023 -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional central osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional osteosarcoma conventional osteosarcoma Conventional Osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteogenic sarcoma intracortical osteogenic sarcoma Intracortical Osteogenic Sarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteogenic sarcoma NCIT:C35870 -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical Osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary Osteosarcoma NCIT:C35870 Conventional Osteosarcoma medullary osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary osteosarcoma NCIT:C35870 Conventional Osteosarcoma medullary osteosarcoma NCIT:C35870 MONDO:0002632 metachronous osteosarcoma of the bone oio:hasExactSynonym metachronous osteosarcoma metachronous osteosarcoma Metachronous Osteosarcoma NCIT:C38157 Metachronous Osteosarcoma metachronous osteosarcoma NCIT:C38157 @@ -3087,7 +3041,6 @@ MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of brea MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of the breast Paget's disease of the breast Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease Paget's disease of the breast NCIT:C47857 MONDO:0002648 mammary Paget disease oio:hasExactSynonym breast Paget disease breast Paget disease Breast Paget Disease NCIT:C47857 Breast Paget Disease breast Paget disease NCIT:C47857 MONDO:0002648 mammary Paget disease oio:hasExactSynonym mammary Paget's disease mammary Paget's disease Mammary Paget's Disease NCIT:C47857 Breast Paget Disease mammary Paget's disease NCIT:C47857 -MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease Paget cell neoplasm NCIT:C7073 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget disease of the scrotum Paget disease of the scrotum Paget Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease Paget disease of the scrotum NCIT:C7728 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of scrotum Paget's disease of scrotum Paget's Disease of Scrotum NCIT:C7728 Scrotal Paget Disease Paget's disease of scrotum NCIT:C7728 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of the scrotum Paget's disease of the scrotum Paget's Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease Paget's disease of the scrotum NCIT:C7728 @@ -3111,8 +3064,8 @@ MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of skin carcinoma of MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of the skin carcinoma of the skin Carcinoma of the Skin NCIT:C4914 Skin Carcinoma carcinoma of the skin NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of skin non-melanoma cancer of skin Non-Melanoma Cancer of Skin NCIT:C4914 Skin Carcinoma non-melanoma cancer of skin NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of the skin non-melanoma cancer of the skin Non-Melanoma Cancer of the Skin NCIT:C4914 Skin Carcinoma non-melanoma cancer of the skin NCIT:C4914 -MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 +MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym skin cancer, non-melanoma skin cancer, non-melanoma Skin Cancer, Non-Melanoma NCIT:C4914 Skin Carcinoma skin cancer, non-melanoma NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym skin carcinoma skin carcinoma Skin Carcinoma NCIT:C4914 Skin Carcinoma skin carcinoma NCIT:C4914 MONDO:0002657 breast disorder oio:hasExactSynonym breast disease breast disease Breast Disease NCIT:C26709 Breast Disorder breast disease NCIT:C26709 @@ -3178,7 +3131,6 @@ MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym classical fibrosarc MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma conventional fibrosarcoma Conventional Fibrosarcoma NCIT:C9429 Conventional Fibrosarcoma conventional fibrosarcoma NCIT:C9429 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma childhood fibrosarcoma Childhood Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma childhood fibrosarcoma NCIT:C8088 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma pediatric fibrosarcoma Pediatric Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma pediatric fibrosarcoma NCIT:C8088 -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke cerebral infarction NCIT:C3390 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction cerebral infarction NCIT:C50486 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia cerebral ischemia Cerebral Ischemia NCIT:C50486 Cerebral Infarction cerebral ischemia NCIT:C50486 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant choroid plexus neoplasm malignant choroid plexus neoplasm Malignant Choroid Plexus Neoplasm NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant choroid plexus neoplasm NCIT:C4533 @@ -3189,8 +3141,6 @@ MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of c MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant neoplasm of the choroid plexus NCIT:C4533 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant tumor of choroid plexus NCIT:C4533 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of the choroid plexus malignant tumor of the choroid plexus Malignant Tumor of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant tumor of the choroid plexus NCIT:C4533 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma cancer of choroid plexus NCIT:C4715 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma choroid plexus cancer NCIT:C4715 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym brain neoplasms, intraventricular brain neoplasms, intraventricular Brain Neoplasms, Intraventricular NCIT:C2937 Intraventricular Brain Neoplasm brain neoplasms, intraventricular NCIT:C2937 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasm intraventricular brain neoplasm Intraventricular Brain Neoplasm NCIT:C2937 Intraventricular Brain Neoplasm intraventricular brain neoplasm NCIT:C2937 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasms intraventricular brain neoplasms Intraventricular Brain Neoplasms NCIT:C2937 Intraventricular Brain Neoplasm intraventricular brain neoplasms NCIT:C2937 @@ -3212,8 +3162,6 @@ MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym childhood MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym superior mesenteric artery syndrome superior mesenteric artery syndrome Superior Mesenteric Artery Syndrome NCIT:C85175 Superior Mesenteric Artery Syndrome superior mesenteric artery syndrome NCIT:C85175 MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant liver neoplasm primary malignant liver neoplasm Primary Malignant Liver Neoplasm NCIT:C34803 Primary Malignant Liver Neoplasm primary malignant liver neoplasm NCIT:C34803 MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant neoplasm of liver primary malignant neoplasm of liver Primary Malignant Neoplasm of Liver NCIT:C34803 Primary Malignant Liver Neoplasm primary malignant neoplasm of liver NCIT:C34803 -MONDO:0002691 liver cancer oio:hasExactSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma cancer of liver NCIT:C7927 -MONDO:0002691 liver cancer oio:hasExactSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma liver cancer NCIT:C7927 MONDO:0002696 Sertoli cell tumor oio:hasExactSynonym Sertoli cell tumor Sertoli cell tumor Sertoli Cell Tumor NCIT:C39976 Sertoli Cell Tumor Sertoli cell tumor NCIT:C39976 MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym ovarian gonadoblastoma ovarian gonadoblastoma Ovarian Gonadoblastoma NCIT:C39985 Ovarian Gonadoblastoma ovarian gonadoblastoma NCIT:C39985 MONDO:0002698 testicular gonadoblastoma oio:hasExactSynonym testicular gonadoblastoma testicular gonadoblastoma Testicular Gonadoblastoma NCIT:C39911 Testicular Gonadoblastoma testicular gonadoblastoma NCIT:C39911 @@ -3320,7 +3268,6 @@ MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of C MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of central nervous system teratoma of central nervous system Teratoma of Central Nervous System NCIT:C5441 Central Nervous System Teratoma teratoma of central nervous system NCIT:C5441 MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the CNS teratoma of the CNS Teratoma of the CNS NCIT:C5441 Central Nervous System Teratoma teratoma of the CNS NCIT:C5441 MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the central nervous system teratoma of the central nervous system Teratoma of the Central Nervous System NCIT:C5441 Central Nervous System Teratoma teratoma of the central nervous system NCIT:C5441 -MONDO:0002718 central nervous system teratoma oio:hasExactSynonym central nervous system teratoma central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma central nervous system teratoma NCIT:C5794 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris neoplasm conus medullaris neoplasm Conus Medullaris Neoplasm NCIT:C5443 Conus Medullaris Neoplasm conus medullaris neoplasm NCIT:C5443 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris tumor conus medullaris tumor Conus Medullaris Tumor NCIT:C5443 Conus Medullaris Neoplasm conus medullaris tumor NCIT:C5443 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym neoplasm of conus medullaris neoplasm of conus medullaris Neoplasm of Conus Medullaris NCIT:C5443 Conus Medullaris Neoplasm neoplasm of conus medullaris NCIT:C5443 @@ -3370,8 +3317,8 @@ MONDO:0002726 cutaneous solitary mastocytoma oio:hasExactSynonym solitary masto MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of 1st nerve disorder of 1st nerve Disorder of 1st Nerve NCIT:C27210 Olfactory Nerve Disorder disorder of 1st nerve NCIT:C27210 MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of the 1st nerve disorder of the 1st nerve Disorder of the 1st Nerve NCIT:C27210 Olfactory Nerve Disorder disorder of the 1st nerve NCIT:C27210 MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym olfactory nerve disorder olfactory nerve disorder Olfactory Nerve Disorder NCIT:C27210 Olfactory Nerve Disorder olfactory nerve disorder NCIT:C27210 -MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 +MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid tumor rhabdoid tumor Rhabdoid Tumor NCIT:C3808 Rhabdoid Tumor rhabdoid tumor NCIT:C3808 MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym kidney rhabdoid tumor kidney rhabdoid tumor Kidney Rhabdoid Tumor NCIT:C8715 Rhabdoid Tumor of the Kidney kidney rhabdoid tumor NCIT:C8715 MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym malignant rhabdoid tumor of kidney malignant rhabdoid tumor of kidney Malignant Rhabdoid Tumor of Kidney NCIT:C8715 Rhabdoid Tumor of the Kidney malignant rhabdoid tumor of kidney NCIT:C8715 @@ -3485,8 +3432,8 @@ MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of ovar MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of the ovary adenocarcinoma of the ovary Adenocarcinoma of the Ovary NCIT:C7700 Ovarian Adenocarcinoma adenocarcinoma of the ovary NCIT:C7700 MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym ovarian adenocarcinoma ovarian adenocarcinoma Ovarian Adenocarcinoma NCIT:C7700 Ovarian Adenocarcinoma ovarian adenocarcinoma NCIT:C7700 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma extramedullary plasmacytoma Extramedullary Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extramedullary plasmacytoma NCIT:C4002 -MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 +MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym plasmacytoma, extramedullary plasmacytoma, extramedullary Plasmacytoma, extramedullary NCIT:C4002 Extraosseous Plasmacytoma plasmacytoma, extramedullary NCIT:C4002 MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym solitary plasmacytoma of bone solitary plasmacytoma of bone Solitary Plasmacytoma of Bone NCIT:C7812 Solitary Plasmacytoma of Bone solitary plasmacytoma of bone NCIT:C7812 MONDO:0002756 solitary plasmacytoma of chest wall oio:hasExactSynonym chest wall solitary plasmacytoma chest wall solitary plasmacytoma Chest Wall Solitary Plasmacytoma NCIT:C6711 Chest Wall Solitary Plasmacytoma chest wall solitary plasmacytoma NCIT:C6711 @@ -3533,7 +3480,6 @@ MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym laryngeal verrucou MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym larynx verrucous carcinoma larynx verrucous carcinoma Larynx Verrucous Carcinoma NCIT:C8188 Laryngeal Verrucous Carcinoma larynx verrucous carcinoma NCIT:C8188 MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of larynx verrucous carcinoma of larynx Verrucous Carcinoma of Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma verrucous carcinoma of larynx NCIT:C8188 MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of the larynx verrucous carcinoma of the larynx Verrucous Carcinoma of the Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma verrucous carcinoma of the larynx NCIT:C8188 -MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development true hermaphroditism NCIT:C127167 MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism true hermaphroditism NCIT:C85207 MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary Interstitial Fibrosis NCIT:C26869 Pulmonary Fibrosis pulmonary interstitial fibrosis NCIT:C26869 MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary interstitial fibrosis NCIT:C26869 Pulmonary Fibrosis pulmonary interstitial fibrosis NCIT:C26869 @@ -3577,8 +3523,8 @@ MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary neoplas MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary tumor of Rathke's pouch papillary tumor of Rathke's pouch Papillary Tumor of Rathke's Pouch NCIT:C4725 Papillary Craniopharyngioma papillary tumor of Rathke's pouch NCIT:C4725 MONDO:0002789 hemangiopericytic tumor oio:hasExactSynonym hemangiopericytic neoplasm hemangiopericytic neoplasm Hemangiopericytic Neoplasm NCIT:C7076 Hemangiopericytic Neoplasm hemangiopericytic neoplasm NCIT:C7076 MONDO:0002790 seminal vesicle tumor oio:hasExactSynonym seminal vesicle neoplasm seminal vesicle neoplasm Seminal Vesicle Neoplasm NCIT:C39908 Seminal Vesicle Neoplasm seminal vesicle neoplasm NCIT:C39908 -MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large Cell Medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 +MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym cerebellar vermis medulloblastoma cerebellar vermis medulloblastoma Cerebellar Vermis Medulloblastoma NCIT:C5401 Cerebellar Vermis Medulloblastoma cerebellar vermis medulloblastoma NCIT:C5401 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of cerebellar vermis medulloblastoma of cerebellar vermis Medulloblastoma of Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma medulloblastoma of cerebellar vermis NCIT:C5401 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of the cerebellar vermis medulloblastoma of the cerebellar vermis Medulloblastoma of the Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma medulloblastoma of the cerebellar vermis NCIT:C5401 @@ -3597,7 +3543,6 @@ MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medullobl MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medulloblastoma melanotic medulloblastoma Melanotic Medulloblastoma NCIT:C9497 Melanocytic Medulloblastoma melanotic medulloblastoma NCIT:C9497 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym childhood medulloblastoma childhood medulloblastoma Childhood Medulloblastoma NCIT:C3997 Childhood Medulloblastoma childhood medulloblastoma NCIT:C3997 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym pediatric medulloblastoma pediatric medulloblastoma Pediatric Medulloblastoma NCIT:C3997 Childhood Medulloblastoma pediatric medulloblastoma NCIT:C3997 -MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Central nervous system embryonal tumor, NOS NCIT:C5398 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified Central nervous system embryonal tumor, NOS NCIT:C5961 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS PNET childhood CNS PNET Childhood CNS PNET NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified childhood CNS PNET NCIT:C5961 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS primitive neuroectodermal neoplasm childhood CNS primitive neuroectodermal neoplasm Childhood CNS Primitive Neuroectodermal Neoplasm NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified childhood CNS primitive neuroectodermal neoplasm NCIT:C5961 @@ -3755,8 +3700,8 @@ MONDO:0002869 heart valve disorder oio:hasExactSynonym valvular heart disorder MONDO:0002870 tricuspid valve insufficiency oio:hasExactSynonym tricuspid insufficiency tricuspid insufficiency Tricuspid Insufficiency NCIT:C50842 Tricuspid Valve Insufficiency tricuspid insufficiency NCIT:C50842 MONDO:0002871 testicular trophoblastic tumor oio:hasExactSynonym testicular trophoblastic tumor testicular trophoblastic tumor Testicular Trophoblastic Tumor NCIT:C39934 Testicular Trophoblastic Tumor testicular trophoblastic tumor NCIT:C39934 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasm trophoblastic neoplasm Trophoblastic Neoplasm NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasm NCIT:C3422 -MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic Neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 +MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic tumor trophoblastic tumor Trophoblastic Tumor NCIT:C3422 Trophoblastic Tumor trophoblastic tumor NCIT:C3422 MONDO:0002874 testicular pure germ cell tumor oio:hasExactSynonym testicular Pure germ cell tumor testicular Pure germ cell tumor Testicular Pure Germ Cell Tumor NCIT:C39915 Testicular Pure Germ Cell Tumor testicular Pure germ cell tumor NCIT:C39915 MONDO:0002876 cervical adenosarcoma oio:hasExactSynonym cervical Mullerian adenosarcoma cervical Mullerian adenosarcoma Cervical Mullerian Adenosarcoma NCIT:C40229 Cervical Adenosarcoma cervical Mullerian adenosarcoma NCIT:C40229 @@ -3809,7 +3754,6 @@ MONDO:0002880 ovarian adenosarcoma oio:hasExactSynonym ovarian mullerian adenos MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Mullerian adenosarcoma vaginal Mullerian adenosarcoma Vaginal Mullerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal Mullerian adenosarcoma NCIT:C40277 MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Müllerian adenosarcoma vaginal Müllerian adenosarcoma Vaginal Müllerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal Müllerian adenosarcoma NCIT:C40277 MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal adenosarcoma vaginal adenosarcoma Vaginal Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal adenosarcoma NCIT:C40277 -MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor colon neuroendocrine tumor NCIT:C135212 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine neoplasm colon neuroendocrine neoplasm Colon Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm colon neuroendocrine neoplasm NCIT:C5697 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colonic neuroendocrine neoplasm colonic neuroendocrine neoplasm Colonic Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm colonic neuroendocrine neoplasm NCIT:C5697 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of colon neuroendocrine neoplasm of colon Neuroendocrine Neoplasm of Colon NCIT:C5697 Colon Neuroendocrine Neoplasm neuroendocrine neoplasm of colon NCIT:C5697 @@ -3869,8 +3813,6 @@ MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brain stem glioma MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brainstem glioma of brainstem Glioma of Brainstem NCIT:C8501 Brain Stem Glioma glioma of brainstem NCIT:C8501 MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brain stem glioma of the brain stem Glioma of the Brain Stem NCIT:C8501 Brain Stem Glioma glioma of the brain stem NCIT:C8501 MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brainstem glioma of the brainstem Glioma of the Brainstem NCIT:C8501 Brain Stem Glioma glioma of the brainstem NCIT:C8501 -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma brain stem glioma NCIT:C9042 -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma brain stem glioma NCIT:C9091 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brain stem malignant neoplasm of brain stem Malignant Neoplasm of Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of brain stem NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brainstem malignant neoplasm of brainstem Malignant Neoplasm of Brainstem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of brainstem NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of the brain stem malignant neoplasm of the brain stem Malignant Neoplasm of the Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of the brain stem NCIT:C3570 @@ -3885,7 +3827,6 @@ MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of cerebellum ne MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of the cerebellum neoplasm of the cerebellum Neoplasm of the Cerebellum NCIT:C2935 Cerebellar Neoplasm neoplasm of the cerebellum NCIT:C2935 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of cerebellum tumor of cerebellum Tumor of Cerebellum NCIT:C2935 Cerebellar Neoplasm tumor of cerebellum NCIT:C2935 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of the cerebellum tumor of the cerebellum Tumor of the Cerebellum NCIT:C2935 Cerebellar Neoplasm tumor of the cerebellum NCIT:C2935 -MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C4869 Brain Stem Neoplasm brain stem neoplasm NCIT:C4869 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm brain stem neoplasm NCIT:C5969 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem neoplasm childhood brain stem neoplasm Childhood Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm childhood brain stem neoplasm NCIT:C5969 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem tumor childhood brain stem tumor Childhood Brain Stem Tumor NCIT:C5969 Childhood Brain Stem Neoplasm childhood brain stem tumor NCIT:C5969 @@ -3921,8 +3862,8 @@ MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynon MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of brainstem intraparenchymal clear cell meningioma of brainstem Intraparenchymal Clear Cell Meningioma of Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma intraparenchymal clear cell meningioma of brainstem NCIT:C5295 MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of the brainstem intraparenchymal clear cell meningioma of the brainstem Intraparenchymal Clear Cell Meningioma of the Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma intraparenchymal clear cell meningioma of the brainstem NCIT:C5295 MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym hair disorder hair disorder Hair Disorder NCIT:C34656 Hair Disorder hair disorder NCIT:C34656 -MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear Cell Meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 +MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of posterior cranial fossa meningioma of posterior cranial fossa Meningioma of Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma meningioma of posterior cranial fossa NCIT:C6775 MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of the posterior cranial fossa meningioma of the posterior cranial fossa Meningioma of the Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma meningioma of the posterior cranial fossa NCIT:C6775 MONDO:0002920 malignant ovarian Brenner tumor oio:hasExactSynonym malignant Brenner tumor of ovary malignant Brenner tumor of ovary Malignant Brenner Tumor of Ovary NCIT:C4270 Malignant Ovarian Brenner Tumor malignant Brenner tumor of ovary NCIT:C4270 @@ -3959,11 +3900,11 @@ MONDO:0002935 penis basal cell carcinoma oio:hasExactSynonym penile basal cell MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal Cell Carcinoma of Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma basal cell carcinoma of scrotum NCIT:C6386 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym scrotal basal cell carcinoma scrotal basal cell carcinoma Scrotal Basal Cell Carcinoma NCIT:C6386 Scrotal Basal Cell Carcinoma scrotal basal cell carcinoma NCIT:C6386 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Nodulo-ulcerative basal cell carcinoma Nodulo-ulcerative basal cell carcinoma Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Nodulo-ulcerative basal cell carcinoma NCIT:C5568 -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 +MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma Skin Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma skin nodulo-ulcerative basal cell carcinoma NCIT:C5568 -MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented basal cell carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 +MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym skin pigmented basal cell carcinoma skin pigmented basal cell carcinoma Skin Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma skin pigmented basal cell carcinoma NCIT:C9359 MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym anal margin basal cell carcinoma anal margin basal cell carcinoma Anal Margin Basal Cell Carcinoma NCIT:C7473 Anal Margin Basal Cell Carcinoma anal margin basal cell carcinoma NCIT:C7473 MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of anal margin basal cell carcinoma of anal margin Basal Cell Carcinoma of Anal Margin NCIT:C7473 Anal Margin Basal Cell Carcinoma basal cell carcinoma of anal margin NCIT:C7473 @@ -3988,8 +3929,8 @@ MONDO:0002944 external ear carcinoma oio:hasExactSynonym external Ear carcinoma MONDO:0002944 external ear carcinoma oio:hasExactSynonym external ear carcinoma external ear carcinoma External Ear Carcinoma NCIT:C6081 External Ear Carcinoma external ear carcinoma NCIT:C6081 MONDO:0002945 micronodular basal cell carcinoma oio:hasExactSynonym skin micronodular basal cell carcinoma skin micronodular basal cell carcinoma Skin Micronodular Basal Cell Carcinoma NCIT:C27541 Skin Micronodular Basal Cell Carcinoma skin micronodular basal cell carcinoma NCIT:C27541 MONDO:0002947 adamantinoid basal cell epithelioma oio:hasExactSynonym skin adamantinoid basal cell carcinoma skin adamantinoid basal cell carcinoma Skin Adamantinoid Basal Cell Carcinoma NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma skin adamantinoid basal cell carcinoma NCIT:C7585 -MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 +MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus fibroepithelioma of Pinkus Fibroepithelioma of Pinkus NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma fibroepithelioma of Pinkus NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus type fibroepithelioma of Pinkus type Fibroepithelioma of Pinkus type NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma fibroepithelioma of Pinkus type NCIT:C4109 MONDO:0002949 morpheaform basal cell carcinoma oio:hasExactSynonym basal cell carcinoma sclerosing type basal cell carcinoma sclerosing type Basal Cell Carcinoma Sclerosing Type NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma basal cell carcinoma sclerosing type NCIT:C27182 @@ -4034,12 +3975,9 @@ MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amela MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amelanotic melanoma Amelanotic melanoma NCIT:C3802 Amelanotic Melanoma amelanotic melanoma NCIT:C3802 MONDO:0002971 amelanotic melanoma oio:hasExactSynonym melanoma, amelanotic, malignant melanoma, amelanotic, malignant MELANOMA, AMELANOTIC, MALIGNANT NCIT:C3802 Amelanotic Melanoma melanoma, amelanotic, malignant NCIT:C3802 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell malignant melanoma epithelioid cell malignant melanoma Epithelioid Cell Malignant Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell malignant melanoma NCIT:C4236 -MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid cell melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 +MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid melanoma epithelioid melanoma Epithelioid Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid melanoma NCIT:C4236 -MONDO:0002974 cervical cancer oio:hasExactSynonym cancer of uterine cervix cancer of uterine cervix Cancer of Uterine Cervix NCIT:C9039 Cervical Carcinoma cancer of uterine cervix NCIT:C9039 -MONDO:0002974 cervical cancer oio:hasExactSynonym cervix cancer cervix cancer Cervix Cancer NCIT:C9039 Cervical Carcinoma cervix cancer NCIT:C9039 -MONDO:0002974 cervical cancer oio:hasExactSynonym uterine cervix cancer uterine cervix cancer Uterine Cervix Cancer NCIT:C9039 Cervical Carcinoma uterine cervix cancer NCIT:C9039 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical neoplasm malignant cervical neoplasm Malignant Cervical Neoplasm NCIT:C9311 Malignant Cervical Neoplasm malignant cervical neoplasm NCIT:C9311 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical tumor malignant cervical tumor Malignant Cervical Tumor NCIT:C9311 Malignant Cervical Neoplasm malignant cervical tumor NCIT:C9311 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervix neoplasm malignant cervix neoplasm Malignant Cervix Neoplasm NCIT:C9311 Malignant Cervical Neoplasm malignant cervix neoplasm NCIT:C9311 @@ -4067,12 +4005,12 @@ MONDO:0002975 malignant breast melanoma oio:hasExactSynonym malignant melanoma MONDO:0002977 autoimmune disorder of the nervous system oio:hasExactSynonym autoimmune nervous system disorder autoimmune nervous system disorder Autoimmune Nervous System Disorder NCIT:C99383 Autoimmune Nervous System Disorder autoimmune nervous system disorder NCIT:C99383 MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of orbit alveolar rhabdomyosarcoma of orbit Alveolar Rhabdomyosarcoma of Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma of orbit NCIT:C6247 MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of the orbit alveolar rhabdomyosarcoma of the orbit Alveolar Rhabdomyosarcoma of the Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma of the orbit NCIT:C6247 -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary Epidermoid Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid cell carcinoma papillary epidermoid cell carcinoma Papillary Epidermoid Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid cell carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous carcinoma papillary squamous carcinoma Papillary Squamous Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous carcinoma NCIT:C4102 -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary squamous cell carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym bone peripheral neuroepithelioma bone peripheral neuroepithelioma Bone Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone bone peripheral neuroepithelioma NCIT:C8776 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym osseous peripheral neuroepithelioma osseous peripheral neuroepithelioma Osseous Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone osseous peripheral neuroepithelioma NCIT:C8776 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym peripheral neuroectodermal tumor of bone peripheral neuroectodermal tumor of bone Peripheral Neuroectodermal Tumor of Bone NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone peripheral neuroectodermal tumor of bone NCIT:C8776 @@ -4089,8 +4027,8 @@ MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary Reticu MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary reticulohistiocytoma solitary reticulohistiocytoma Solitary Reticulohistiocytoma NCIT:C3356 Solitary Reticulohistiocytoma solitary reticulohistiocytoma NCIT:C3356 MONDO:0002988 cervix melanoma oio:hasExactSynonym cervical melanoma cervical melanoma Cervical Melanoma NCIT:C40239 Cervical Melanoma cervical melanoma NCIT:C40239 MONDO:0002988 cervix melanoma oio:hasExactSynonym melanoma of the cervix melanoma of the cervix Melanoma of the Cervix NCIT:C40239 Cervical Melanoma melanoma of the cervix NCIT:C40239 -MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 +MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym fibrous histiocytoma fibrous histiocytoma Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym histiocytoma, fibrous, benign histiocytoma, fibrous, benign HISTIOCYTOMA, FIBROUS, BENIGN NCIT:C3739 Fibrous Histiocytoma histiocytoma, fibrous, benign NCIT:C3739 MONDO:0002990 benign deep fibrous histiocytoma oio:hasExactSynonym benign deep fibrous histiocytoma benign deep fibrous histiocytoma Benign Deep Fibrous Histiocytoma NCIT:C6492 Deep Fibrous Histiocytoma benign deep fibrous histiocytoma NCIT:C6492 @@ -4111,8 +4049,6 @@ MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma of the anterior fossa meningioma of the anterior fossa Meningioma of the Anterior Fossa NCIT:C5286 Anterior Cranial Fossa Meningioma meningioma of the anterior fossa NCIT:C5286 MONDO:0002998 skull base meningioma oio:hasExactSynonym meningioma of the skull base meningioma of the skull base Meningioma of the Skull Base NCIT:C5272 Skull Base Meningioma meningioma of the skull base NCIT:C5272 MONDO:0002998 skull base meningioma oio:hasExactSynonym skull base meningioma skull base meningioma Skull Base Meningioma NCIT:C5272 Skull Base Meningioma skull base meningioma NCIT:C5272 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma central nervous system germinoma NCIT:C27406 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma central nervous system germinoma NCIT:C5792 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma central nervous system germinoma NCIT:C7009 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of CNS germinoma of CNS Germinoma of CNS NCIT:C7009 Central Nervous System Germinoma germinoma of CNS NCIT:C7009 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of central nervous system germinoma of central nervous system Germinoma of Central Nervous System NCIT:C7009 Central Nervous System Germinoma germinoma of central nervous system NCIT:C7009 @@ -4130,8 +4066,6 @@ MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ c MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of central nervous system germ cell tumor of central nervous system Germ Cell Tumor of Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of central nervous system NCIT:C5461 MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the CNS germ cell tumor of the CNS Germ Cell Tumor of the CNS NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of the CNS NCIT:C5461 MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the central nervous system germ cell tumor of the central nervous system Germ Cell Tumor of the Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of the central nervous system NCIT:C5461 -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor central nervous system germ cell tumor NCIT:C6205 -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor central nervous system germ cell tumor NCIT:C6285 MONDO:0003001 seminoma oio:hasExactSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma seminoma NCIT:C9309 MONDO:0003001 seminoma oio:hasExactSynonym seminoma, malignant seminoma, malignant SEMINOMA, MALIGNANT NCIT:C9309 Seminoma seminoma, malignant NCIT:C9309 MONDO:0003001 seminoma oio:hasExactSynonym seminoma, pure seminoma, pure Seminoma, Pure NCIT:C9309 Seminoma seminoma, pure NCIT:C9309 @@ -4279,12 +4213,12 @@ MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningio MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningioma, benign MENINGIOMA, BENIGN NCIT:C4055 Benign Meningioma meningioma, benign NCIT:C4055 MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory Meningioma NCIT:C4718 Secretory Meningioma secretory meningioma NCIT:C4718 MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory meningioma NCIT:C4718 Secretory Meningioma secretory meningioma NCIT:C4718 -MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich Meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 +MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 MONDO:0003057 pediatric meningioma oio:hasExactSynonym childhood meningioma childhood meningioma Childhood Meningioma NCIT:C8264 Childhood Meningioma childhood meningioma NCIT:C8264 MONDO:0003057 pediatric meningioma oio:hasExactSynonym pediatric meningioma pediatric meningioma Pediatric Meningioma NCIT:C8264 Childhood Meningioma pediatric meningioma NCIT:C8264 -MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic Meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 +MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle neoplasm benign muscle neoplasm Benign Muscle Neoplasm NCIT:C4882 Benign Muscle Neoplasm benign muscle neoplasm NCIT:C4882 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle tumor benign muscle tumor Benign Muscle Tumor NCIT:C4882 Benign Muscle Neoplasm benign muscle tumor NCIT:C4882 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign neoplasm of muscle benign neoplasm of muscle Benign Neoplasm of Muscle NCIT:C4882 Benign Muscle Neoplasm benign neoplasm of muscle NCIT:C4882 @@ -4323,10 +4257,8 @@ MONDO:0003072 retinal cancer oio:hasExactSynonym malignant retinal tumor malign MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of retina malignant tumor of retina Malignant Tumor of Retina NCIT:C3216 Malignant Retinal Neoplasm malignant tumor of retina NCIT:C3216 MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of the retina malignant tumor of the retina Malignant Tumor of the Retina NCIT:C3216 Malignant Retinal Neoplasm malignant tumor of the retina NCIT:C3216 MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma intraocular retinoblastoma NCIT:C7846 -MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma intraocular retinoblastoma NCIT:C9047 MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma extraocular retinoblastoma NCIT:C7848 MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym metastatic retinoblastoma metastatic retinoblastoma Metastatic Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma metastatic retinoblastoma NCIT:C7848 -MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma extraocular retinoblastoma NCIT:C9048 MONDO:0003079 mastocytoma oio:hasExactSynonym mastocytoma mastocytoma Mastocytoma NCIT:C9303 Mastocytoma mastocytoma NCIT:C9303 MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous angioma Venous angioma Venous Angioma NCIT:C4296 Venous Hemangioma Venous angioma NCIT:C4296 MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous malformation Venous malformation Venous Malformation NCIT:C4296 Venous Hemangioma Venous malformation NCIT:C4296 @@ -4536,7 +4468,6 @@ MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym neoplasm of the Cauda e MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of Cauda equina tumor of Cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of Cauda equina NCIT:C5479 MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of cauda equina tumor of cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of cauda equina NCIT:C5479 MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of the Cauda equina tumor of the Cauda equina Tumor of the Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of the Cauda equina NCIT:C5479 -MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma cerebellar astrocytoma NCIT:C6286 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of cerebellum astrocytoma of cerebellum Astrocytoma of Cerebellum NCIT:C9475 Cerebellar Astrocytoma astrocytoma of cerebellum NCIT:C9475 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of the cerebellum astrocytoma of the cerebellum Astrocytoma of the Cerebellum NCIT:C9475 Cerebellar Astrocytoma astrocytoma of the cerebellum NCIT:C9475 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma, cerebellar astrocytoma, cerebellar Astrocytoma, Cerebellar NCIT:C9475 Cerebellar Astrocytoma astrocytoma, cerebellar NCIT:C9475 @@ -4611,15 +4542,15 @@ MONDO:0003190 middle ear carcinoma oio:hasExactSynonym carcinoma of the middle MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle Ear carcinoma middle Ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma middle Ear carcinoma NCIT:C6089 MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle ear carcinoma middle ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma middle ear carcinoma NCIT:C6089 MONDO:0003191 rete ovarii adenocarcinoma oio:hasExactSynonym rete ovarii adenocarcinoma rete ovarii adenocarcinoma Rete Ovarii Adenocarcinoma NCIT:C40017 Rete Ovarii Adenocarcinoma rete ovarii adenocarcinoma NCIT:C40017 -MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile duct adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 +MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 MONDO:0003196 appendix carcinoma oio:hasExactSynonym appendix carcinoma appendix carcinoma Appendix Carcinoma NCIT:C9330 Appendix Carcinoma appendix carcinoma NCIT:C9330 MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of appendix carcinoma of appendix Carcinoma of Appendix NCIT:C9330 Appendix Carcinoma carcinoma of appendix NCIT:C9330 MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of the appendix carcinoma of the appendix Carcinoma of the Appendix NCIT:C9330 Appendix Carcinoma carcinoma of the appendix NCIT:C9330 -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular cell adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular cell carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small bowel adenocarcinoma of small bowel Adenocarcinoma of Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of small bowel NCIT:C7888 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine Adenocarcinoma of Small Intestine NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of small intestine NCIT:C7888 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of the small bowel adenocarcinoma of the small bowel Adenocarcinoma of the Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of the small bowel NCIT:C7888 @@ -4636,8 +4567,8 @@ MONDO:0003200 urethra adenocarcinoma oio:hasExactSynonym urethral adenocarcinom MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil adenocarcinoma basophil adenocarcinoma Basophil Adenocarcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma basophil adenocarcinoma NCIT:C27392 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil carcinoma basophil carcinoma Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma basophil carcinoma NCIT:C27392 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym pituitary gland basophil carcinoma pituitary gland basophil carcinoma Pituitary Gland Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma pituitary gland basophil carcinoma NCIT:C27392 -MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous Adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 +MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney pelvis adenocarcinoma of kidney pelvis Adenocarcinoma of Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of kidney pelvis NCIT:C6143 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of renal pelvis adenocarcinoma of renal pelvis Adenocarcinoma of Renal Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of renal pelvis NCIT:C6143 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney pelvis adenocarcinoma of the kidney pelvis Adenocarcinoma of the Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of the kidney pelvis NCIT:C6143 @@ -4659,8 +4590,8 @@ MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory carcinoma of the breast juvenile secretory carcinoma of the breast Juvenile Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma juvenile secretory carcinoma of the breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory breast carcinoma secretory breast carcinoma Secretory Breast Carcinoma NCIT:C4189 Breast Secretory Carcinoma secretory breast carcinoma NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma secretory carcinoma Secretory Carcinoma NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma NCIT:C4189 -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory carcinoma of breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 +MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of the breast secretory carcinoma of the breast Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of the breast NCIT:C4189 MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym Thymus adenocarcinoma Thymus adenocarcinoma Thymus Adenocarcinoma NCIT:C6459 Thymic Adenocarcinoma Thymus adenocarcinoma NCIT:C6459 MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of Thymus adenocarcinoma of Thymus Adenocarcinoma of Thymus NCIT:C6459 Thymic Adenocarcinoma adenocarcinoma of Thymus NCIT:C6459 @@ -4676,7 +4607,6 @@ MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma Intrahepatic Cholangiocarcinoma NCIT:C35417 Intrahepatic Cholangiocarcinoma intrahepatic cholangiocarcinoma NCIT:C35417 MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC ICC iCC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ICC NCIT:C35417 MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ICC NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of nasal cavity adenocarcinoma of nasal cavity Adenocarcinoma of Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma adenocarcinoma of nasal cavity NCIT:C6015 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of the nasal cavity adenocarcinoma of the nasal cavity Adenocarcinoma of the Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma adenocarcinoma of the nasal cavity NCIT:C6015 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym nasal cavity adenocarcinoma nasal cavity adenocarcinoma Nasal Cavity Adenocarcinoma NCIT:C6015 Nasal Cavity Adenocarcinoma nasal cavity adenocarcinoma NCIT:C6015 @@ -4698,8 +4628,8 @@ MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of the u MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of ureter adenocarcinoma of ureter Adenocarcinoma of Ureter NCIT:C6155 Ureter Adenocarcinoma adenocarcinoma of ureter NCIT:C6155 MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureter adenocarcinoma ureter adenocarcinoma Ureter Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma ureter adenocarcinoma NCIT:C6155 MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureteral adenocarcinoma ureteral adenocarcinoma Ureteral Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma ureteral adenocarcinoma NCIT:C6155 -MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma in situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 +MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of cardioesophageal junction adenocarcinoma of cardioesophageal junction Adenocarcinoma of Cardioesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of cardioesophageal junction NCIT:C9296 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of gastroesophageal junction adenocarcinoma of gastroesophageal junction Adenocarcinoma of Gastroesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of gastroesophageal junction NCIT:C9296 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of the EG junction adenocarcinoma of the EG junction Adenocarcinoma of the EG Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of the EG junction NCIT:C9296 @@ -4728,8 +4658,8 @@ MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym optic nerve astrocyto MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of optic nerve glioma of optic nerve Glioma of Optic Nerve NCIT:C4537 Optic Nerve Glioma glioma of optic nerve NCIT:C4537 MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of the optic nerve glioma of the optic nerve Glioma of the Optic Nerve NCIT:C4537 Optic Nerve Glioma glioma of the optic nerve NCIT:C4537 MONDO:0003235 optic nerve glioma oio:hasExactSynonym optic nerve glioma optic nerve glioma Optic Nerve Glioma NCIT:C4537 Optic Nerve Glioma optic nerve glioma NCIT:C4537 -MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical Polypoid Adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 +MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of body of uterus adenomyoma of body of uterus Adenomyoma of Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of body of uterus NCIT:C6338 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of corpus uteri adenomyoma of corpus uteri Adenomyoma of Corpus Uteri NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of corpus uteri NCIT:C6338 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of the body of uterus adenomyoma of the body of uterus Adenomyoma of the Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of the body of uterus NCIT:C6338 @@ -4779,8 +4709,8 @@ MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym af MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym aflatoxins-related hepatocellular carcinoma aflatoxins-related hepatocellular carcinoma Aflatoxins-Related Hepatocellular Carcinoma NCIT:C27922 Aflatoxins-Related Hepatocellular Carcinoma aflatoxins-related hepatocellular carcinoma NCIT:C27922 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular cancer scirrhous hepatocellular cancer Scirrhous Hepatocellular Cancer NCIT:C27388 Scirrhous Hepatocellular Carcinoma scirrhous hepatocellular cancer NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular carcinoma scirrhous hepatocellular carcinoma Scirrhous Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma scirrhous hepatocellular carcinoma NCIT:C27388 -MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing hepatic carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 +MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatocellular carcinoma sclerosing hepatocellular carcinoma Sclerosing Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatocellular carcinoma NCIT:C27388 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland neoplasm adult pineal gland neoplasm Adult Pineal Gland Neoplasm NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm adult pineal gland neoplasm NCIT:C8273 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland tumor adult pineal gland tumor Adult Pineal Gland Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm adult pineal gland tumor NCIT:C8273 @@ -4820,8 +4750,8 @@ MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell neoplasm of the esophagus granular cell neoplasm of the esophagus Granular Cell Neoplasm of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell neoplasm of the esophagus NCIT:C5700 MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of esophagus granular cell tumor of esophagus Granular Cell Tumor of Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell tumor of esophagus NCIT:C5700 MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of the esophagus granular cell tumor of the esophagus Granular Cell Tumor of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell tumor of the esophagus NCIT:C5700 -MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant Granular cell tumor, malignant NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 +MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell myoblastoma malignant granular cell myoblastoma Malignant Granular Cell Myoblastoma NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell myoblastoma NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell neoplasm malignant granular cell neoplasm Malignant Granular Cell Neoplasm NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell neoplasm NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell tumor malignant granular cell tumor Malignant Granular Cell Tumor NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell tumor NCIT:C4336 @@ -4856,7 +4786,6 @@ MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary gland tumor posterior pituitary gland tumor Posterior Pituitary Gland Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary gland tumor NCIT:C7157 MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary neoplasm posterior pituitary neoplasm Posterior Pituitary Neoplasm NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary neoplasm NCIT:C7157 MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary tumor posterior pituitary tumor Posterior Pituitary Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary tumor NCIT:C7157 -MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym PITUICYTOMA, benign PITUICYTOMA, benign PITUICYTOMA, BENIGN NCIT:C94524 Pituicytoma PITUICYTOMA, benign NCIT:C94524 MONDO:0003258 hobnail hemangioma oio:hasExactSynonym Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic Hemangioma NCIT:C27506 Hobnail Hemangioma Targetoid Hemosiderotic hemangioma NCIT:C27506 MONDO:0003258 hobnail hemangioma oio:hasExactSynonym hobnail hemangioma hobnail hemangioma Hobnail Hemangioma NCIT:C27506 Hobnail Hemangioma hobnail hemangioma NCIT:C27506 MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym adult cerebellar neoplasm adult cerebellar neoplasm Adult Cerebellar Neoplasm NCIT:C5968 Adult Cerebellar Neoplasm adult cerebellar neoplasm NCIT:C5968 @@ -4869,8 +4798,8 @@ MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of adult cere MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of the adult cerebellum tumor of the adult cerebellum Tumor of the Adult Cerebellum NCIT:C5968 Adult Cerebellar Neoplasm tumor of the adult cerebellum NCIT:C5968 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of cerebellum papillary meningioma of cerebellum Papillary Meningioma of Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma papillary meningioma of cerebellum NCIT:C5270 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of the cerebellum papillary meningioma of the cerebellum Papillary Meningioma of the Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma papillary meningioma of the cerebellum NCIT:C5270 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 +MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasm childhood cerebellar neoplasm Childhood Cerebellar Neoplasm NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar neoplasm NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasms childhood cerebellar neoplasms Childhood Cerebellar Neoplasms NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar neoplasms NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar tumor childhood cerebellar tumor Childhood Cerebellar Tumor NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar tumor NCIT:C5970 @@ -4885,8 +4814,8 @@ MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neopl MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neoplasm of the cerebellum pediatric neoplasm of the cerebellum Pediatric Neoplasm of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric neoplasm of the cerebellum NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of cerebellum pediatric tumor of cerebellum Pediatric Tumor of Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric tumor of cerebellum NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of the cerebellum pediatric tumor of the cerebellum Pediatric Tumor of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric tumor of the cerebellum NCIT:C5970 -MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 +MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous cell carcinoma basosquamous cell carcinoma Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous cell carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous tumor, malignant basosquamous tumor, malignant BASOSQUAMOUS TUMOR, MALIGNANT NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous tumor, malignant NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym skin basosquamous cell carcinoma skin basosquamous cell carcinoma Skin Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma skin basosquamous cell carcinoma NCIT:C2922 @@ -4898,8 +4827,8 @@ MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed glioma, mixed Glio MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed, malignant glioma, mixed, malignant GLIOMA, MIXED, MALIGNANT NCIT:C3903 Mixed Glioma glioma, mixed, malignant NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial neoplasm mixed glial neoplasm Mixed Glial Neoplasm NCIT:C3903 Mixed Glioma mixed glial neoplasm NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial tumor mixed glial tumor Mixed Glial Tumor NCIT:C3903 Mixed Glioma mixed glial tumor NCIT:C3903 -MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 +MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial neoplasm mixed neuroglial neoplasm Mixed Neuroglial Neoplasm NCIT:C3903 Mixed Glioma mixed neuroglial neoplasm NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial tumor mixed neuroglial tumor Mixed Neuroglial Tumor NCIT:C3903 Mixed Glioma mixed neuroglial tumor NCIT:C3903 MONDO:0003273 sternum cancer oio:hasExactSynonym malignant neoplasm of sternum malignant neoplasm of sternum Malignant Neoplasm of Sternum NCIT:C8408 Malignant Sternal Neoplasm malignant neoplasm of sternum NCIT:C8408 @@ -4944,12 +4873,12 @@ MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of central nervous system leiomyoma of central nervous system Leiomyoma of Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of central nervous system NCIT:C6998 MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the CNS leiomyoma of the CNS Leiomyoma of the CNS NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of the CNS NCIT:C6998 MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the central nervous system leiomyoma of the central nervous system Leiomyoma of the Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of the central nervous system NCIT:C6998 -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre Leiomyoma NCIT:C4257 Bizarre Leiomyoma bizarre leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre leiomyoma NCIT:C4257 Bizarre Leiomyoma bizarre leiomyoma NCIT:C4257 -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic Leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 MONDO:0003289 deep leiomyoma oio:hasExactSynonym deep leiomyoma deep leiomyoma Deep Leiomyoma NCIT:C6512 Deep Leiomyoma deep leiomyoma NCIT:C6512 MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous (skin) leiomyoma cutaneous (skin) leiomyoma Cutaneous (Skin) Leiomyoma NCIT:C4482 Skin Leiomyoma cutaneous (skin) leiomyoma NCIT:C4482 MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous leiomyoma cutaneous leiomyoma Cutaneous Leiomyoma NCIT:C4482 Skin Leiomyoma cutaneous leiomyoma NCIT:C4482 @@ -4968,8 +4897,8 @@ MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of pericardiu MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of the pericardium leiomyoma of the pericardium Leiomyoma of the Pericardium NCIT:C6743 Pericardial Leiomyoma leiomyoma of the pericardium NCIT:C6743 MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym pericardial leiomyoma pericardial leiomyoma Pericardial Leiomyoma NCIT:C6743 Pericardial Leiomyoma pericardial leiomyoma NCIT:C6743 MONDO:0003295 leiomyomatosis oio:hasExactSynonym leiomyomatosis leiomyomatosis Leiomyomatosis NCIT:C3748 Leiomyomatosis leiomyomatosis NCIT:C3748 -MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 +MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym gallbladder leiomyoma gallbladder leiomyoma Gallbladder Leiomyoma NCIT:C5747 Gallbladder Leiomyoma gallbladder leiomyoma NCIT:C5747 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of gallbladder leiomyoma of gallbladder Leiomyoma of Gallbladder NCIT:C5747 Gallbladder Leiomyoma leiomyoma of gallbladder NCIT:C5747 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of the gallbladder leiomyoma of the gallbladder Leiomyoma of the Gallbladder NCIT:C5747 Gallbladder Leiomyoma leiomyoma of the gallbladder NCIT:C5747 @@ -5061,8 +4990,8 @@ MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign pericytic ne MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular neoplasm benign perivascular neoplasm Benign Perivascular Neoplasm NCIT:C6529 Benign Pericytic Neoplasm benign perivascular neoplasm NCIT:C6529 MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular tumor benign perivascular tumor Benign Perivascular Tumor NCIT:C6529 Benign Pericytic Neoplasm benign perivascular tumor NCIT:C6529 MONDO:0003343 retinal hemangioblastoma oio:hasExactSynonym retinal hemangioblastoma retinal hemangioblastoma Retinal Hemangioblastoma NCIT:C39783 Retinal Hemangioblastoma retinal hemangioblastoma NCIT:C39783 -MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 +MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar CC hilar CC Hilar CC NCIT:C36077 Hilar Cholangiocarcinoma hilar CC NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar cholangiocarcinoma hilar cholangiocarcinoma Hilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma hilar cholangiocarcinoma NCIT:C36077 MONDO:0003346 central nervous system vasculitis oio:hasExactSynonym central nervous system vasculitis central nervous system vasculitis Central Nervous System Vasculitis NCIT:C84622 Central Nervous System Vasculitis central nervous system vasculitis NCIT:C84622 @@ -5096,8 +5025,8 @@ MONDO:0003354 heart sarcoma oio:hasExactSynonym sarcoma of the heart sarcoma of MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of ovary leiomyosarcoma of ovary Leiomyosarcoma of Ovary NCIT:C5234 Ovarian Leiomyosarcoma leiomyosarcoma of ovary NCIT:C5234 MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the ovary leiomyosarcoma of the ovary Leiomyosarcoma of the Ovary NCIT:C5234 Ovarian Leiomyosarcoma leiomyosarcoma of the ovary NCIT:C5234 MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym ovarian leiomyosarcoma ovarian leiomyosarcoma Ovarian Leiomyosarcoma NCIT:C5234 Ovarian Leiomyosarcoma ovarian leiomyosarcoma NCIT:C5234 -MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 +MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of lung leiomyosarcoma of lung Leiomyosarcoma of Lung NCIT:C5667 Lung Leiomyosarcoma leiomyosarcoma of lung NCIT:C5667 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the lung leiomyosarcoma of the lung Leiomyosarcoma of the Lung NCIT:C5667 Lung Leiomyosarcoma leiomyosarcoma of the lung NCIT:C5667 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym lung leiomyosarcoma lung leiomyosarcoma Lung Leiomyosarcoma NCIT:C5667 Lung Leiomyosarcoma lung leiomyosarcoma NCIT:C5667 @@ -5266,18 +5195,17 @@ MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma b MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct mucinous cystic neoplasm bile duct mucinous cystic neoplasm Bile Duct Mucinous Cystic Neoplasm NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm bile duct mucinous cystic neoplasm NCIT:C4129 MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of bile duct cystadenoma of bile duct Cystadenoma of Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm cystadenoma of bile duct NCIT:C4129 MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of the bile duct cystadenoma of the bile duct Cystadenoma of the Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm cystadenoma of the bile duct NCIT:C4129 -MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed Cell Adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 +MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of lung adenoma of lung Adenoma of Lung NCIT:C4455 Lung Adenoma adenoma of lung NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of the lung adenoma of the lung Adenoma of the Lung NCIT:C4455 Lung Adenoma adenoma of the lung NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym lung adenoma lung adenoma Lung Adenoma NCIT:C4455 Lung Adenoma lung adenoma NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym pulmonary adenoma pulmonary adenoma Pulmonary Adenoma NCIT:C4455 Lung Adenoma pulmonary adenoma NCIT:C4455 MONDO:0003423 middle ear adenoma oio:hasExactSynonym middle ear adenoma middle ear adenoma Middle Ear Adenoma NCIT:C6834 Middle Ear Neuroendocrine Tumor middle ear adenoma NCIT:C6834 -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 +MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic Adenoma NCIT:C3759 Oncocytic Adenoma oxyphilic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic adenoma NCIT:C3759 Oncocytic Adenoma oxyphilic adenoma NCIT:C3759 -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm oncocytoma NCIT:C7072 MONDO:0003426 clear cell adenoma oio:hasExactSynonym adenoma, clear cell, benign adenoma, clear cell, benign ADENOMA, CLEAR CELL, BENIGN NCIT:C4151 Clear Cell Adenoma adenoma, clear cell, benign NCIT:C4151 MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear cell adenoma NCIT:C4151 Clear Cell Adenoma clear cell adenoma NCIT:C4151 MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear Cell Adenoma NCIT:C4151 Clear Cell Adenoma clear cell adenoma NCIT:C4151 @@ -5309,8 +5237,8 @@ MONDO:0003432 strabismus oio:hasExactSynonym squint squint Squint NCIT:C35040 S MONDO:0003432 strabismus oio:hasExactSynonym strabismus strabismus Strabismus NCIT:C35040 Strabismus strabismus NCIT:C35040 MONDO:0003433 water-clear cell adenoma oio:hasExactSynonym parathyroid gland water-clear cell adenoma parathyroid gland water-clear cell adenoma Parathyroid Gland Water-Clear Cell Adenoma NCIT:C4155 Parathyroid Gland Water-Clear Cell Adenoma parathyroid gland water-clear cell adenoma NCIT:C4155 MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma vaginal adenoma Vaginal Adenoma NCIT:C40256 Vaginal Adenoma vaginal adenoma NCIT:C40256 -MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 +MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of lung occult small cell carcinoma of lung Occult Small Cell Carcinoma of Lung NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell carcinoma of lung NCIT:C6683 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult Small Cell Carcinoma of the Lung NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell carcinoma of the lung NCIT:C6683 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell lung carcinoma occult small cell lung carcinoma Occult Small Cell Lung Carcinoma NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell lung carcinoma NCIT:C6683 @@ -5348,8 +5276,8 @@ MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym intrahepatic b MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of extrahepatic bile duct adenoma of extrahepatic bile duct Adenoma of Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma adenoma of extrahepatic bile duct NCIT:C5857 MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of the extrahepatic bile duct adenoma of the extrahepatic bile duct Adenoma of the Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma adenoma of the extrahepatic bile duct NCIT:C5857 MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym extrahepatic bile duct adenoma extrahepatic bile duct adenoma Extrahepatic Bile Duct Adenoma NCIT:C5857 Extrahepatic Bile Duct Adenoma extrahepatic bile duct adenoma NCIT:C5857 -MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 +MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear Cell Hidradenoma NCIT:C7567 Clear Cell Hidradenoma clear cell hidradenoma NCIT:C7567 MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear cell hidradenoma NCIT:C7567 Clear Cell Hidradenoma clear cell hidradenoma NCIT:C7567 MONDO:0003448 benign spiradenoma oio:hasExactSynonym spiradenoma spiradenoma Spiradenoma NCIT:C4170 Spiradenoma spiradenoma NCIT:C4170 @@ -5366,8 +5294,8 @@ MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant neoplasm of the MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of conjunctiva malignant tumor of conjunctiva Malignant Tumor of Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm malignant tumor of conjunctiva NCIT:C3564 MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of the conjunctiva malignant tumor of the conjunctiva Malignant Tumor of the Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm malignant tumor of the conjunctiva NCIT:C3564 MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym bile duct papillomatosis bile duct papillomatosis Bile Duct Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm bile duct papillomatosis NCIT:C6881 -MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 +MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of body of uterus adenofibroma of body of uterus Adenofibroma of Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of body of uterus NCIT:C6337 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of corpus uteri adenofibroma of corpus uteri Adenofibroma of Corpus Uteri NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of corpus uteri NCIT:C6337 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of the body of uterus adenofibroma of the body of uterus Adenofibroma of the Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of the body of uterus NCIT:C6337 @@ -5401,7 +5329,6 @@ MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid synovial sarcoma epithelioid synovial sarcoma Epithelioid Synovial Sarcoma NCIT:C4278 Epithelial Synovial Sarcoma epithelioid synovial sarcoma NCIT:C4278 MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym synovial sarcoma, epithelioid cell synovial sarcoma, epithelioid cell Synovial sarcoma, epithelioid cell NCIT:C4278 Epithelial Synovial Sarcoma synovial sarcoma, epithelioid cell NCIT:C4278 MONDO:0003472 lice infestation oio:hasExactSynonym pediculosis pediculosis Pediculosis NCIT:C128401 Pediculosis pediculosis NCIT:C128401 -MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma spinal cord ependymoma NCIT:C27399 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of spinal cord ependymoma of spinal cord Ependymoma of Spinal Cord NCIT:C3875 Spinal Cord Ependymoma ependymoma of spinal cord NCIT:C3875 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of the spinal cord ependymoma of the spinal cord Ependymoma of the Spinal Cord NCIT:C3875 Spinal Cord Ependymoma ependymoma of the spinal cord NCIT:C3875 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma spinal cord ependymoma NCIT:C3875 @@ -5525,8 +5452,8 @@ MONDO:0003516 adult teratoma oio:hasExactSynonym adult teratoma adult teratoma MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma mature teratoma NCIT:C9015 MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma mature teratoma NCIT:C9015 MONDO:0003518 mediastinum teratoma oio:hasExactSynonym teratoma of mediastinum teratoma of mediastinum Teratoma of Mediastinum NCIT:C6438 Mediastinal Teratoma teratoma of mediastinum NCIT:C6438 -MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic adnexal carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 +MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma syringomatous carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma syringomatous carcinoma NCIT:C7581 MONDO:0003522 male orgasm disorder oio:hasExactSynonym male orgasmic disorder male orgasmic disorder Male Orgasmic Disorder NCIT:C34959 Male Orgasmic Disorder male orgasmic disorder NCIT:C34959 @@ -5567,8 +5494,6 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym p MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic leukemia/lymphoma precursor lymphoblastic leukemia/lymphoma Precursor Lymphoblastic Leukemia/Lymphoma NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoblastic leukemia/lymphoma NCIT:C7055 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia Precursor Lymphoblastic Lymphoma/Leukemia NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoblastic lymphoma/leukemia NCIT:C7055 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoid neoplasm precursor lymphoid neoplasm Precursor Lymphoid Neoplasm NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoid neoplasm NCIT:C7055 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C3183 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T cell adult ALL T cell adult ALL T Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T cell adult ALL NCIT:C9142 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T-cell adult ALL T-cell adult ALL T-Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T-cell adult ALL NCIT:C9142 @@ -5638,8 +5563,8 @@ MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym disorder of cranial MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-Rich Carcinoma NCIT:C4152 Lipid-Rich Carcinoma lipid-rich carcinoma NCIT:C4152 MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-rich carcinoma NCIT:C4152 Lipid-Rich Carcinoma lipid-rich carcinoma NCIT:C4152 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym Schmincke tumor Schmincke tumor Schmincke Tumor NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma Schmincke tumor NCIT:C4107 -MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma lymphoepithelioma Lymphoepithelioma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-like carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma-like carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-Like Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma-like carcinoma NCIT:C4107 @@ -5703,8 +5628,8 @@ MONDO:0003592 gastric liposarcoma oio:hasExactSynonym stomach liposarcoma stoma MONDO:0003593 breast liposarcoma oio:hasExactSynonym breast liposarcoma breast liposarcoma Breast Liposarcoma NCIT:C5187 Breast Liposarcoma breast liposarcoma NCIT:C5187 MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of breast liposarcoma of breast Liposarcoma of Breast NCIT:C5187 Breast Liposarcoma liposarcoma of breast NCIT:C5187 MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of the breast liposarcoma of the breast Liposarcoma of the Breast NCIT:C5187 Breast Liposarcoma liposarcoma of the breast NCIT:C5187 -MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed Liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 +MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 MONDO:0003596 spindle cell liposarcoma oio:hasExactSynonym spindle cell liposarcoma spindle cell liposarcoma Spindle Cell Liposarcoma NCIT:C27489 Atypical Spindle Cell/Pleomorphic Lipomatous Tumor spindle cell liposarcoma NCIT:C27489 MONDO:0003599 vulvar liposarcoma oio:hasExactSynonym vulvar liposarcoma vulvar liposarcoma Vulvar Liposarcoma NCIT:C40321 Vulvar Liposarcoma vulvar liposarcoma NCIT:C40321 MONDO:0003600 cutaneous liposarcoma oio:hasExactSynonym cutaneous liposarcoma cutaneous liposarcoma Cutaneous Liposarcoma NCIT:C5615 Skin Liposarcoma cutaneous liposarcoma NCIT:C5615 @@ -5746,8 +5671,8 @@ MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym pancreat MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of pancreas serous cystadenocarcinoma of pancreas Serous Cystadenocarcinoma of Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma serous cystadenocarcinoma of pancreas NCIT:C5724 MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of the pancreas serous cystadenocarcinoma of the pancreas Serous Cystadenocarcinoma of the Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma serous cystadenocarcinoma of the pancreas NCIT:C5724 MONDO:0003631 cervical serous adenocarcinoma oio:hasExactSynonym cervical serous adenocarcinoma cervical serous adenocarcinoma Cervical Serous Adenocarcinoma NCIT:C40201 Cervical Serous Adenocarcinoma cervical serous adenocarcinoma NCIT:C40201 -MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant Mesenchymoma, malignant NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 +MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym Sugar tumor Sugar tumor Sugar Tumor NCIT:C38152 Lung Clear Cell Tumor Sugar tumor NCIT:C38152 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of lung clear cell-Sugar-tumor of lung Clear Cell-Sugar-Tumor of Lung NCIT:C38152 Lung Clear Cell Tumor clear cell-Sugar-tumor of lung NCIT:C38152 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of the lung clear cell-Sugar-tumor of the lung Clear Cell-Sugar-Tumor of the Lung NCIT:C38152 Lung Clear Cell Tumor clear cell-Sugar-tumor of the lung NCIT:C38152 @@ -5857,8 +5782,8 @@ MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondros MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondrosarcoma periosteal chondrosarcoma Periosteal Chondrosarcoma NCIT:C7357 Periosteal Chondrosarcoma periosteal chondrosarcoma NCIT:C7357 MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym chondrosarcoma, localized chondrosarcoma, localized Chondrosarcoma, Localized NCIT:C8778 Localized Chondrosarcoma chondrosarcoma, localized NCIT:C8778 MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym localized chondrosarcoma localized chondrosarcoma Localized Chondrosarcoma NCIT:C8778 Localized Chondrosarcoma localized chondrosarcoma NCIT:C8778 -MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear Cell Chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 +MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of retroperitoneum germ cell neoplasm of retroperitoneum Germ Cell Neoplasm of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell neoplasm of retroperitoneum NCIT:C6447 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of the retroperitoneum germ cell neoplasm of the retroperitoneum Germ Cell Neoplasm of the Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell neoplasm of the retroperitoneum NCIT:C6447 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell tumor of retroperitoneum germ cell tumor of retroperitoneum Germ Cell Tumor of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell tumor of retroperitoneum NCIT:C6447 @@ -5891,8 +5816,8 @@ MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym adult malignant e MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym malignant adult ependymoma malignant adult ependymoma Malignant Adult Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma malignant adult ependymoma NCIT:C8269 MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym childhood malignant mesenchymoma childhood malignant mesenchymoma Childhood Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma childhood malignant mesenchymoma NCIT:C8097 MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym adult malignant mesenchymoma adult malignant mesenchymoma Adult Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma adult malignant mesenchymoma NCIT:C7947 -MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear cell cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 +MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 MONDO:0003694 ovarian clear cell cystadenofibroma oio:hasExactSynonym ovarian clear cell cystadenofibroma ovarian clear cell cystadenofibroma Ovarian Clear Cell Cystadenofibroma NCIT:C40086 Ovarian Clear Cell Cystadenofibroma ovarian clear cell cystadenofibroma NCIT:C40086 MONDO:0003695 ovarian clear cell adenofibroma oio:hasExactSynonym ovarian clear cell adenofibroma ovarian clear cell adenofibroma Ovarian Clear Cell Adenofibroma NCIT:C40085 Ovarian Clear Cell Adenofibroma ovarian clear cell adenofibroma NCIT:C40085 MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym non-invasive penile verrucous carcinoma non-invasive penile verrucous carcinoma Non-Invasive Penile Verrucous Carcinoma NCIT:C27791 Non-Invasive Verrucous Carcinoma of the Penis non-invasive penile verrucous carcinoma NCIT:C27791 @@ -6007,7 +5932,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of breast fi MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breast fibrosarcoma of the breast Fibrosarcoma of the Breast NCIT:C5185 Breast Fibrosarcoma fibrosarcoma of the breast NCIT:C5185 MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis aleukemic leukemia cutis Aleukemic Leukemia Cutis NCIT:C4983 Aleukemic Leukemia Cutis aleukemic leukemia cutis NCIT:C4983 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia aleukemic leukemia Aleukemic Leukemia NCIT:C4982 Aleukemic Leukemia aleukemic leukemia NCIT:C4982 -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5441 Central Nervous System Teratoma Central nervous system teratoma NCIT:C5441 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma Central nervous system teratoma NCIT:C5794 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult CNS teratoma adult CNS teratoma Adult CNS Teratoma NCIT:C5794 Adult Central Nervous System Teratoma adult CNS teratoma NCIT:C5794 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma adult central nervous system teratoma Adult Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma adult central nervous system teratoma NCIT:C5794 @@ -6110,8 +6034,8 @@ MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric o MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric ovarian germ cell tumor pediatric ovarian germ cell tumor Pediatric Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor pediatric ovarian germ cell tumor NCIT:C8588 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym leptomeningeal melanoma leptomeningeal melanoma Leptomeningeal Melanoma NCIT:C5317 Meningeal Melanoma leptomeningeal melanoma NCIT:C5317 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym melanoma of the leptomeninges melanoma of the leptomeninges Melanoma of the Leptomeninges NCIT:C5317 Meningeal Melanoma melanoma of the leptomeninges NCIT:C5317 -MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal Melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 +MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal neoplasm malignant leptomeningeal neoplasm Malignant Leptomeningeal Neoplasm NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant leptomeningeal neoplasm NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal tumor malignant leptomeningeal tumor Malignant Leptomeningeal Tumor NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant leptomeningeal tumor NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant tumor of leptomeninges malignant tumor of leptomeninges Malignant Tumor of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant tumor of leptomeninges NCIT:C8506 @@ -6217,8 +6141,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixed mesodermal Müllerian tumor ovarian malignant mixed mesodermal Müllerian tumor Ovarian Malignant Mixed Mesodermal Müllerian Tumor NCIT:C9192 Ovarian Carcinosarcoma ovarian malignant mixed mesodermal Müllerian tumor NCIT:C9192 MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell cancer ovarian small cell cancer Ovarian Small Cell Cancer NCIT:C27390 Ovarian Small Cell Carcinoma ovarian small cell cancer NCIT:C27390 MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma ovarian small cell carcinoma Ovarian Small Cell Carcinoma NCIT:C27390 Ovarian Small Cell Carcinoma ovarian small cell carcinoma NCIT:C27390 -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell NEC ovarian small cell NEC Ovarian Small Cell NEC NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type ovarian small cell NEC NCIT:C40440 -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell neuroendocrine carcinoma ovarian small cell neuroendocrine carcinoma Ovarian Small Cell Neuroendocrine Carcinoma NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type ovarian small cell neuroendocrine carcinoma NCIT:C40440 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum Kaposi's sarcoma of rectum Kaposi's Sarcoma of Rectum NCIT:C5550 Rectal Kaposi Sarcoma Kaposi's sarcoma of rectum NCIT:C5550 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of the rectum Kaposi's sarcoma of the rectum Kaposi's Sarcoma of the Rectum NCIT:C5550 Rectal Kaposi Sarcoma Kaposi's sarcoma of the rectum NCIT:C5550 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectal Kaposi sarcoma rectal Kaposi sarcoma Rectal Kaposi Sarcoma NCIT:C5550 Rectal Kaposi Sarcoma rectal Kaposi sarcoma NCIT:C5550 @@ -6526,8 +6448,8 @@ MONDO:0003878 malignant choroid melanoma oio:hasExactSynonym melanoma of the ch MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid adenocarcinofibroma ovarian endometrioid adenocarcinofibroma Ovarian Endometrioid Adenocarcinofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma ovarian endometrioid adenocarcinofibroma NCIT:C40060 MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid malignant adenofibroma ovarian endometrioid malignant adenofibroma Ovarian Endometrioid Malignant Adenofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma ovarian endometrioid malignant adenofibroma NCIT:C40060 MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym carcinoma, ceruminous gland, malignant carcinoma, ceruminous gland, malignant CARCINOMA, CERUMINOUS GLAND, MALIGNANT NCIT:C4176 Ceruminous Adenocarcinoma carcinoma, ceruminous gland, malignant NCIT:C4176 -MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 +MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 MONDO:0003881 vulvar apocrine adenocarcinoma oio:hasExactSynonym vulvar apocrine adenocarcinoma vulvar apocrine adenocarcinoma Vulvar Apocrine Adenocarcinoma NCIT:C40308 Vulvar Apocrine Adenocarcinoma vulvar apocrine adenocarcinoma NCIT:C40308 MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym CNS fibrosarcoma CNS fibrosarcoma CNS Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma CNS fibrosarcoma NCIT:C5465 MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym central nervous system fibrosarcoma central nervous system fibrosarcoma Central Nervous System Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma central nervous system fibrosarcoma NCIT:C5465 @@ -6567,8 +6489,8 @@ MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocy MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of mediastinum melanocytic schwannoma of mediastinum Melanocytic Schwannoma of Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma melanocytic schwannoma of mediastinum NCIT:C6635 MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of the mediastinum melanocytic schwannoma of the mediastinum Melanocytic Schwannoma of the Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma melanocytic schwannoma of the mediastinum NCIT:C6635 MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym juxtacortical chondroblastic osteosarcoma juxtacortical chondroblastic osteosarcoma Juxtacortical Chondroblastic Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma juxtacortical chondroblastic osteosarcoma NCIT:C8970 -MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 +MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary angioma breast capillary angioma Breast Capillary Angioma NCIT:C5210 Breast Capillary Hemangioma breast capillary angioma NCIT:C5210 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary hemangioma breast capillary hemangioma Breast Capillary Hemangioma NCIT:C5210 Breast Capillary Hemangioma breast capillary hemangioma NCIT:C5210 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym capillary angioma of breast capillary angioma of breast Capillary Angioma of Breast NCIT:C5210 Breast Capillary Hemangioma capillary angioma of breast NCIT:C5210 @@ -6591,7 +6513,6 @@ MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disorders connective tissue disorders Connective Tissue Disorders NCIT:C26729 Connective Tissue Disorder connective tissue disorders NCIT:C26729 MONDO:0003900 connective tissue disorder oio:hasExactSynonym disorder of connective tissue disorder of connective tissue Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder disorder of connective tissue NCIT:C26729 MONDO:0003900 connective tissue disorder oio:hasExactSynonym primary disorder of connective tissue primary disorder of connective tissue Primary Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder primary disorder of connective tissue NCIT:C26729 -MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder connective tissue disease NCIT:C27204 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of cerebellum angioblastoma of cerebellum Angioblastoma of Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma angioblastoma of cerebellum NCIT:C5146 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of the cerebellum angioblastoma of the cerebellum Angioblastoma of the Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma angioblastoma of the cerebellum NCIT:C5146 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym cerebellar angioblastoma cerebellar angioblastoma Cerebellar Angioblastoma NCIT:C5146 Cerebellar Hemangioblastoma cerebellar angioblastoma NCIT:C5146 @@ -6753,7 +6674,6 @@ MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of adult central nervous system choriocarcinoma of adult central nervous system Choriocarcinoma of Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of adult central nervous system NCIT:C5793 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult CNS choriocarcinoma of the adult CNS Choriocarcinoma of the Adult CNS NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of the adult CNS NCIT:C5793 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult central nervous system choriocarcinoma of the adult central nervous system Choriocarcinoma of the Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of the adult central nervous system NCIT:C5793 -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C5793 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood CNS choriocarcinoma childhood CNS choriocarcinoma Childhood CNS Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma childhood CNS choriocarcinoma NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood central nervous system choriocarcinoma childhood central nervous system choriocarcinoma Childhood Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma childhood central nervous system choriocarcinoma NCIT:C6206 @@ -6766,7 +6686,6 @@ MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric CNS choriocarcinoma of the pediatric CNS Choriocarcinoma of the Pediatric CNS NCIT:C6206 Childhood Central Nervous System Choriocarcinoma choriocarcinoma of the pediatric CNS NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric central nervous system choriocarcinoma of the pediatric central nervous system Choriocarcinoma of the Pediatric Central Nervous System NCIT:C6206 Childhood Central Nervous System Choriocarcinoma choriocarcinoma of the pediatric central nervous system NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym pediatric central nervous system choriocarcinoma pediatric central nervous system choriocarcinoma Pediatric Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma pediatric central nervous system choriocarcinoma NCIT:C6206 -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C7012 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym Swiss cheese disease Swiss cheese disease Swiss Cheese Disease NCIT:C9503 Juvenile Breast Papillomatosis Swiss cheese disease NCIT:C9503 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile breast papillomatosis juvenile breast papillomatosis Juvenile Breast Papillomatosis NCIT:C9503 Juvenile Breast Papillomatosis juvenile breast papillomatosis NCIT:C9503 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile papillomatosis of breast juvenile papillomatosis of breast Juvenile Papillomatosis of Breast NCIT:C9503 Juvenile Breast Papillomatosis juvenile papillomatosis of breast NCIT:C9503 @@ -6792,7 +6711,6 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Launois-Cleret syndrome Lau MONDO:0003962 Froelich syndrome oio:hasExactSynonym dystrophia Adiposogenitalis dystrophia Adiposogenitalis Dystrophia Adiposogenitalis NCIT:C34625 Frohlich Syndrome dystrophia Adiposogenitalis NCIT:C34625 MONDO:0003962 Froelich syndrome oio:hasExactSynonym hypothalamic infantilism-obesity hypothalamic infantilism-obesity Hypothalamic Infantilism-Obesity NCIT:C34625 Frohlich Syndrome hypothalamic infantilism-obesity NCIT:C34625 MONDO:0003962 Froelich syndrome oio:hasExactSynonym sexual infantilism sexual infantilism Sexual Infantilism NCIT:C34625 Frohlich Syndrome sexual infantilism NCIT:C34625 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva myositis ossificans progressiva NCIT:C3040 MONDO:0003967 synchronous multifocal osteogenic sarcoma oio:hasExactSynonym synchronous multifocal osteosarcoma synchronous multifocal osteosarcoma Synchronous Multifocal Osteosarcoma NCIT:C6471 Synchronous Multifocal Osteosarcoma synchronous multifocal osteosarcoma NCIT:C6471 MONDO:0003968 asynchronous multifocal osteogenic sarcoma oio:hasExactSynonym asynchronous multifocal osteosarcoma asynchronous multifocal osteosarcoma Asynchronous Multifocal Osteosarcoma NCIT:C6472 Asynchronous Multifocal Osteosarcoma asynchronous multifocal osteosarcoma NCIT:C6472 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach carcinoma of fundus of stomach Carcinoma of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma carcinoma of fundus of stomach NCIT:C8398 @@ -7127,8 +7045,8 @@ MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum NCIT:C6630 MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanotic peripheral nerve sheath tumor of the mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum NCIT:C6630 MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym mediastinal melanocytic MPNST mediastinal melanocytic MPNST Mediastinal Melanocytic MPNST NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum mediastinal melanocytic MPNST NCIT:C6630 -MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult cystic teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 +MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym combined small cell and squamous cell lung carcinoma combined small cell and squamous cell lung carcinoma Combined Small Cell and Squamous Cell Lung Carcinoma NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma combined small cell and squamous cell lung carcinoma NCIT:C9423 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym mixed small cell and squamous cell carcinoma of the lung mixed small cell and squamous cell carcinoma of the lung Mixed Small Cell and Squamous Cell Carcinoma of the Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma mixed small cell and squamous cell carcinoma of the lung NCIT:C9423 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym small cell and squamous cell carcinoma of lung small cell and squamous cell carcinoma of lung Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma small cell and squamous cell carcinoma of lung NCIT:C9423 @@ -7219,8 +7137,8 @@ MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal Buschke-Lowenst MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal giant (malignant) condyloma anal giant (malignant) condyloma Anal Giant (Malignant) Condyloma NCIT:C7470 Anal Verrucous Carcinoma anal giant (malignant) condyloma NCIT:C7470 MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal verrucous carcinoma anal verrucous carcinoma Anal Verrucous Carcinoma NCIT:C7470 Anal Verrucous Carcinoma anal verrucous carcinoma NCIT:C7470 MONDO:0004132 anal canal squamous cell carcinoma oio:hasExactSynonym anal canal squamous cell carcinoma anal canal squamous cell carcinoma Anal Canal Squamous Cell Carcinoma NCIT:C7469 Anal Canal Squamous Cell Carcinoma anal canal squamous cell carcinoma NCIT:C7469 -MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 +MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym pituitary gland mixed acidophil-basophil adenoma pituitary gland mixed acidophil-basophil adenoma Pituitary Gland Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma pituitary gland mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign dermal schwannoma benign dermal schwannoma Benign Dermal Schwannoma NCIT:C5569 Cutaneous Schwannoma benign dermal schwannoma NCIT:C5569 MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign neurilemmoma of skin benign neurilemmoma of skin Benign Neurilemmoma of Skin NCIT:C5569 Cutaneous Schwannoma benign neurilemmoma of skin NCIT:C5569 @@ -7243,8 +7161,8 @@ MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSyno MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic Meningioma NCIT:C4330 Fibrous Meningioma fibroblastic meningioma NCIT:C4330 MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic meningioma NCIT:C4330 Fibrous Meningioma fibroblastic meningioma NCIT:C4330 MONDO:0004145 meningothelial meningioma oio:hasExactSynonym Meningotheliomatous meningioma Meningotheliomatous meningioma Meningotheliomatous Meningioma NCIT:C4329 Meningothelial Meningioma Meningotheliomatous meningioma NCIT:C4329 -MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed Meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 +MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 MONDO:0004146 transitional meningioma oio:hasExactSynonym transitional (mixed) meningioma transitional (mixed) meningioma Transitional (Mixed) Meningioma NCIT:C4333 Transitional Meningioma transitional (mixed) meningioma NCIT:C4333 MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym malignant thymoma, noninvasive malignant thymoma, noninvasive Malignant Thymoma, Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma malignant thymoma, noninvasive NCIT:C9080 MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym thymoma malignant noninvasive thymoma malignant noninvasive Thymoma Malignant Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma thymoma malignant noninvasive NCIT:C9080 @@ -7255,8 +7173,8 @@ MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcino MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma oio:hasExactSynonym papillary carcinoma of the gallbladder papillary carcinoma of the gallbladder Papillary Carcinoma of the Gallbladder NCIT:C5743 Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma papillary carcinoma of the gallbladder NCIT:C5743 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym breast giant fibroadenoma breast giant fibroadenoma Breast Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma breast giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant breast fibroadenoma giant breast fibroadenoma Giant Breast Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant breast fibroadenoma NCIT:C4273 -MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 +MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of breast giant fibroadenoma of breast Giant Fibroadenoma of Breast NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma of breast NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of the breast giant fibroadenoma of the breast Giant Fibroadenoma of the Breast NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma of the breast NCIT:C4273 MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation oio:hasExactSynonym CLL/SLL with IGVH SHM NCIT:C37201 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation CLL/SLL with IGVH SHM NCIT:C37201 @@ -7280,7 +7198,6 @@ MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynon MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of adult central nervous system embryonal carcinoma of adult central nervous system Embryonal Carcinoma of Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of adult central nervous system NCIT:C5790 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult CNS embryonal carcinoma of the adult CNS Embryonal Carcinoma of the Adult CNS NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of the adult CNS NCIT:C5790 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal Carcinoma of the Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of the adult central nervous system NCIT:C5790 -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma Central nervous system embryonal carcinoma NCIT:C7010 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of pancreas colloid Cystadencarcinoma of pancreas Colloid Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloid Cystadencarcinoma of pancreas NCIT:C5713 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of the pancreas colloid Cystadencarcinoma of the pancreas Colloid Cystadencarcinoma of the Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloid Cystadencarcinoma of the pancreas NCIT:C5713 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloidal Cystadencarcinoma of pancreas colloidal Cystadencarcinoma of pancreas Colloidal Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloidal Cystadencarcinoma of pancreas NCIT:C5713 @@ -7430,8 +7347,8 @@ MONDO:0004223 polyp of middle ear oio:hasExactSynonym middle ear polyp middle e MONDO:0004223 polyp of middle ear oio:hasExactSynonym polyp of the middle ear polyp of the middle ear Polyp of the Middle Ear NCIT:C6933 Middle Ear Polyp polyp of the middle ear NCIT:C6933 MONDO:0004224 chronic metabolic polyneuropathy oio:hasExactSynonym chronic metabolic polyneuropathy chronic metabolic polyneuropathy Chronic Metabolic Polyneuropathy NCIT:C35602 Chronic Metabolic Polyneuropathy chronic metabolic polyneuropathy NCIT:C35602 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy Of undetermined significance (MGUS) monoclonal gammopathy Of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy Of undetermined significance (MGUS) NCIT:C3996 -MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal gammopathy of undetermined significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 +MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance (MGUS) NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym MGUS NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MGUS NCIT:C3996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse intraductal papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis diffuse intraductal papillomatosis NCIT:C7364 @@ -7445,7 +7362,6 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor, benign a MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma Benign Localized Epithelial Mesothelioma NCIT:C3762 Adenomatoid Tumor benign localized epithelial mesothelioma NCIT:C3762 MONDO:0004231 spindle cell variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, spindle cell variant squamous cell breast carcinoma, spindle cell variant Squamous Cell Breast Carcinoma, Spindle Cell Variant NCIT:C40358 Breast Squamous Cell Carcinoma, Spindle Cell Variant squamous cell breast carcinoma, spindle cell variant NCIT:C40358 MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, large cell keratinizing variant squamous cell breast carcinoma, large cell keratinizing variant Squamous Cell Breast Carcinoma, Large Cell Keratinizing Variant NCIT:C40357 Breast Squamous Cell Carcinoma, Large Cell Keratinizing Variant squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357 -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma Pleomorphic rhabdomyosarcoma NCIT:C4258 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma Pleomorphic rhabdomyosarcoma NCIT:C7959 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma Childhood Anaplastic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma NCIT:C7959 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym pediatric pleomorphic rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma Pediatric Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma NCIT:C7959 @@ -7512,9 +7428,7 @@ MONDO:0004255 Wolffian adnexal tumor oio:hasExactSynonym Wolffian adnexal tumor MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym lumbar intraspinal meningioma lumbar intraspinal meningioma Lumbar Intraspinal Meningioma NCIT:C5298 Lumbar Intraspinal Meningioma lumbar intraspinal meningioma NCIT:C5298 MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of lumbar spinal canal and spinal cord meningioma of lumbar spinal canal and spinal cord Meningioma of Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma meningioma of lumbar spinal canal and spinal cord NCIT:C5298 MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of the lumbar spinal canal and spinal cord meningioma of the lumbar spinal canal and spinal cord Meningioma of the Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma meningioma of the lumbar spinal canal and spinal cord NCIT:C5298 -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C27402 MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C27403 -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C7016 MONDO:0004258 female orgasmic disorder oio:hasExactSynonym female orgasmic disorder female orgasmic disorder Female Orgasmic Disorder NCIT:C34958 Female Orgasmic Disorder female orgasmic disorder NCIT:C34958 MONDO:0004261 periductal breast myoepitheliosis oio:hasExactSynonym periductal breast myoepitheliosis periductal breast myoepitheliosis Periductal Breast Myoepitheliosis NCIT:C40388 Breast Periductal Myoepitheliosis periductal breast myoepitheliosis NCIT:C40388 MONDO:0004262 breast myoepitheliosis oio:hasExactSynonym breast myoepitheliosis breast myoepitheliosis Breast Myoepitheliosis NCIT:C40385 Breast Myoepitheliosis breast myoepitheliosis NCIT:C40385 @@ -7523,8 +7437,8 @@ MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym chi MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym pediatric infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma Pediatric Infratentorial Ependymoblastoma NCIT:C6773 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered pediatric infratentorial ependymoblastoma NCIT:C6773 MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of the anal gland adenocarcinoma of the anal gland Adenocarcinoma of the Anal Gland NCIT:C5609 Anal Glands Adenocarcinoma adenocarcinoma of the anal gland NCIT:C5609 MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym anal glands adenocarcinoma anal glands adenocarcinoma Anal Glands Adenocarcinoma NCIT:C5609 Anal Glands Adenocarcinoma anal glands adenocarcinoma NCIT:C5609 -MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous Papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 +MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 MONDO:0004270 breast ductal adenoma oio:hasExactSynonym breast ductal adenoma breast ductal adenoma Breast Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma breast ductal adenoma NCIT:C40384 MONDO:0004270 breast ductal adenoma oio:hasExactSynonym ductal adenoma ductal adenoma Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma ductal adenoma NCIT:C40384 MONDO:0004271 pregnancy adenoma oio:hasExactSynonym Lactating adenoma Lactating adenoma Lactating Adenoma NCIT:C9473 Lactating Adenoma Lactating adenoma NCIT:C9473 @@ -7539,8 +7453,8 @@ MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym os MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osseous Paget's disease osteosarcoma arising in osseous Paget's disease Osteosarcoma Arising in Osseous Paget's Disease NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone osteosarcoma arising in osseous Paget's disease NCIT:C6469 MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osteitis deformans osteosarcoma arising in osteitis deformans Osteosarcoma Arising in Osteitis Deformans NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone osteosarcoma arising in osteitis deformans NCIT:C6469 MONDO:0004276 ceruminoma oio:hasExactSynonym adenoma, ceruminous gland, benign adenoma, ceruminous gland, benign ADENOMA, CERUMINOUS GLAND, BENIGN NCIT:C6088 Ceruminous Adenoma adenoma, ceruminous gland, benign NCIT:C6088 -MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 +MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of external auditory canal ceruminous adenoma of external auditory canal Ceruminous Adenoma of External Auditory Canal NCIT:C6088 Ceruminous Adenoma ceruminous adenoma of external auditory canal NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of the external auditory canal ceruminous adenoma of the external auditory canal Ceruminous Adenoma of the External Auditory Canal NCIT:C6088 Ceruminous Adenoma ceruminous adenoma of the external auditory canal NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym external auditory canal ceruminous adenoma external auditory canal ceruminous adenoma External Auditory Canal Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma external auditory canal ceruminous adenoma NCIT:C6088 @@ -7602,12 +7516,12 @@ MONDO:0004297 lymphoepithelioma-like thymic carcinoma oio:hasExactSynonym thymi MONDO:0004298 stomach disorder oio:hasExactSynonym stomach disorder stomach disorder Stomach Disorder NCIT:C26886 Stomach Disorder stomach disorder NCIT:C26886 MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma oio:hasExactSynonym infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder lymphoepithelioma-like carcinoma Infiltrating Bladder Lymphoepithelioma-Like Carcinoma NCIT:C39821 Invasive Bladder Lymphoepithelioma-Like Carcinoma infiltrating bladder lymphoepithelioma-like carcinoma NCIT:C39821 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteogenic sarcoma fibroblastic osteogenic sarcoma Fibroblastic Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteogenic sarcoma NCIT:C4020 -MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 +MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteogenic sarcoma fibrosarcomatous osteogenic sarcoma Fibrosarcomatous Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibrosarcomatous osteogenic sarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteosarcoma fibrosarcomatous osteosarcoma Fibrosarcomatous Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibrosarcomatous osteosarcoma NCIT:C4020 -MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief Cell Adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 +MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid chief cell adenoma of parathyroid Chief Cell Adenoma of Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of parathyroid NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid gland chief cell adenoma of parathyroid gland Chief Cell Adenoma of Parathyroid Gland NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of parathyroid gland NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of the parathyroid chief cell adenoma of the parathyroid Chief Cell Adenoma of the Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of the parathyroid NCIT:C4154 @@ -7636,13 +7550,13 @@ MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid gla MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid oncocytic adenoma parathyroid oncocytic adenoma Parathyroid Oncocytic Adenoma NCIT:C27393 Parathyroid Gland Oncocytic Adenoma parathyroid oncocytic adenoma NCIT:C27393 MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood conventional osteosarcoma childhood conventional osteosarcoma Childhood Conventional Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma childhood conventional osteosarcoma NCIT:C6590 MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood intracortical osteosarcoma childhood intracortical osteosarcoma Childhood Intracortical Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma childhood intracortical osteosarcoma NCIT:C6590 -MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 +MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meninges sarcomatosis meninges sarcomatosis Meninges Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meninges sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of meninges sarcomatosis of meninges Sarcomatosis of Meninges NCIT:C4334 Meningeal Sarcomatosis sarcomatosis of meninges NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of the meninges sarcomatosis of the meninges Sarcomatosis of the Meninges NCIT:C4334 Meningeal Sarcomatosis sarcomatosis of the meninges NCIT:C4334 -MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 +MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meninges sarcoma meninges sarcoma Meninges Sarcoma NCIT:C4073 Meningeal Sarcoma meninges sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of meninges sarcoma of meninges Sarcoma of Meninges NCIT:C4073 Meningeal Sarcoma sarcoma of meninges NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of the meninges sarcoma of the meninges Sarcoma of the Meninges NCIT:C4073 Meningeal Sarcoma sarcoma of the meninges NCIT:C4073 @@ -7680,8 +7594,8 @@ MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym maxillary sinu MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia NCIT:C41251 MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia NCIT:C41251 MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic non-invasive intraductal papillary-mucinous carcinoma pancreatic non-invasive intraductal papillary-mucinous carcinoma Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic non-invasive intraductal papillary-mucinous carcinoma NCIT:C41251 -MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 +MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of leptomeninges sarcoma of leptomeninges Sarcoma of Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma sarcoma of leptomeninges NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of the leptomeninges sarcoma of the leptomeninges Sarcoma of the Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma sarcoma of the leptomeninges NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma, leptomeningeal, malignant sarcoma, leptomeningeal, malignant SARCOMA, LEPTOMENINGEAL, MALIGNANT NCIT:C8312 Leptomeningeal Sarcoma sarcoma, leptomeningeal, malignant NCIT:C8312 @@ -7736,8 +7650,8 @@ MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym colloid carcinoma of the pancreas colloid carcinoma of the pancreas Colloid Carcinoma of the Pancreas NCIT:C37214 Pancreatic Colloid Carcinoma colloid carcinoma of the pancreas NCIT:C37214 MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym mucinous Noncystic carcinoma mucinous Noncystic carcinoma Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma mucinous Noncystic carcinoma NCIT:C37214 MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym pancreatic mucinous Noncystic carcinoma pancreatic mucinous Noncystic carcinoma Pancreatic Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma pancreatic mucinous Noncystic carcinoma NCIT:C37214 -MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 +MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of pancreas acinar cell cystadenocarcinoma of pancreas Acinar Cell Cystadenocarcinoma of Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma of pancreas NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of the pancreas acinar cell cystadenocarcinoma of the pancreas Acinar Cell Cystadenocarcinoma of the Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma of the pancreas NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma Pancreatic Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma NCIT:C5727 @@ -8040,7 +7954,6 @@ MONDO:0004468 anal canal Paget disease oio:hasExactSynonym anal canal Paget's d MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym pseudovascular skin squamous cell carcinoma pseudovascular skin squamous cell carcinoma Pseudovascular Skin Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma pseudovascular skin squamous cell carcinoma NCIT:C27542 MONDO:0004471 bacterial arthritis oio:hasExactSynonym pyogenic arthritis pyogenic arthritis Pyogenic Arthritis NCIT:C26699 Bacterial Arthritis pyogenic arthritis NCIT:C26699 MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis septic arthritis NCIT:C26699 -MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis septic arthritis NCIT:C26700 MONDO:0004472 breast columnar cell mucinous carcinoma oio:hasExactSynonym breast columnar cell mucinous carcinoma breast columnar cell mucinous carcinoma Breast Columnar Cell Mucinous Carcinoma NCIT:C40355 Breast Columnar Cell Mucinous Carcinoma breast columnar cell mucinous carcinoma NCIT:C40355 MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic cancer epiglottic cancer Epiglottic Cancer NCIT:C35697 Epiglottic Carcinoma epiglottic cancer NCIT:C35697 MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic throat cancer epiglottic throat cancer Epiglottic Throat Cancer NCIT:C35697 Epiglottic Carcinoma epiglottic throat cancer NCIT:C35697 @@ -8114,12 +8027,12 @@ MONDO:0004507 atypical breast papilloma oio:hasExactSynonym atypical breast pap MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillary neoplasm intrahepatic bile duct papillary neoplasm Intrahepatic Bile Duct Papillary Neoplasm NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic bile duct papillary neoplasm NCIT:C7125 MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillomatosis intrahepatic bile duct papillomatosis Intrahepatic Bile Duct Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic bile duct papillomatosis NCIT:C7125 MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic biliary papillomatosis intrahepatic biliary papillomatosis Intrahepatic Biliary Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic biliary papillomatosis NCIT:C7125 -MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 +MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of Lower clivus meningioma of Lower clivus Meningioma of Lower Clivus NCIT:C5288 Lower Clivus Meningioma meningioma of Lower clivus NCIT:C5288 MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of the lower clivus meningioma of the lower clivus Meningioma of the Lower Clivus NCIT:C5288 Lower Clivus Meningioma meningioma of the lower clivus NCIT:C5288 -MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 +MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 MONDO:0004513 adult pleomorphic rhabdomyosarcoma oio:hasExactSynonym adult pleomorphic rhabdomyosarcoma adult pleomorphic rhabdomyosarcoma Adult Pleomorphic Rhabdomyosarcoma NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma adult pleomorphic rhabdomyosarcoma NCIT:C27369 MONDO:0004516 bulbomembranous urethral cancer oio:hasExactSynonym bulbomembranous urethral malignant neoplasm bulbomembranous urethral malignant neoplasm Bulbomembranous Urethral Malignant Neoplasm NCIT:C39869 Bulbomembranous Urethral Malignant Neoplasm bulbomembranous urethral malignant neoplasm NCIT:C39869 MONDO:0004518 anterior urethra cancer oio:hasExactSynonym anterior urethra malignant neoplasm anterior urethra malignant neoplasm Anterior Urethra Malignant Neoplasm NCIT:C7641 Anterior Urethral Malignant Neoplasm anterior urethra malignant neoplasm NCIT:C7641 @@ -8139,8 +8052,8 @@ MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym adult epithelioid s MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of skin clear cell squamous cell carcinoma of skin Clear Cell Squamous Cell Carcinoma of Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell carcinoma of skin NCIT:C4459 MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of the skin clear cell squamous cell carcinoma of the skin Clear Cell Squamous Cell Carcinoma of the Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell carcinoma of the skin NCIT:C4459 MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell skin carcinoma clear cell squamous cell skin carcinoma Clear Cell Squamous Cell Skin Carcinoma NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell skin carcinoma NCIT:C4459 -MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical follicular adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 +MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym thyroid gland atypical follicular adenoma thyroid gland atypical follicular adenoma Thyroid Gland Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential thyroid gland atypical follicular adenoma NCIT:C27729 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym Stromomyoma NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm Stromomyoma NCIT:C40178 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym mixed endometrial stromal and smooth muscle neoplasm mixed endometrial stromal and smooth muscle neoplasm Mixed Endometrial Stromal and Smooth Muscle Neoplasm NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm mixed endometrial stromal and smooth muscle neoplasm NCIT:C40178 @@ -8171,8 +8084,8 @@ MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant neoplasm of MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of aorta malignant tumor of aorta Malignant Tumor of Aorta NCIT:C5375 Malignant Aortic Neoplasm malignant tumor of aorta NCIT:C5375 MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of the aorta malignant tumor of the aorta Malignant Tumor of the Aorta NCIT:C5375 Malignant Aortic Neoplasm malignant tumor of the aorta NCIT:C5375 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid MPNST epithelioid MPNST Epithelioid MPNST NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid MPNST NCIT:C6561 -MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid Malignant Peripheral Nerve Sheath Tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 +MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of peripheral nerve sheath malignant epithelioid neoplasm of peripheral nerve sheath Malignant Epithelioid Neoplasm of Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid neoplasm of peripheral nerve sheath NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of the peripheral nerve sheath malignant epithelioid neoplasm of the peripheral nerve sheath Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid neoplasm of the peripheral nerve sheath NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid peripheral nerve sheath neoplasm malignant epithelioid peripheral nerve sheath neoplasm Malignant Epithelioid Peripheral Nerve Sheath Neoplasm NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid peripheral nerve sheath neoplasm NCIT:C6561 @@ -8273,15 +8186,12 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal neo MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal tumor malignant oropharyngeal tumor Malignant Oropharyngeal Tumor NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant oropharyngeal tumor NCIT:C7398 MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of oropharynx malignant tumor of oropharynx Malignant Tumor of Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant tumor of oropharynx NCIT:C7398 MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of the oropharynx malignant tumor of the oropharynx Malignant Tumor of the Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant tumor of the oropharynx NCIT:C7398 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma cancer of oropharynx NCIT:C9105 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oropharyngeal cancer oropharyngeal cancer Oropharyngeal Cancer NCIT:C9105 Oropharyngeal Carcinoma oropharyngeal cancer NCIT:C9105 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of soft palate malignant neoplasm of soft palate Malignant Neoplasm of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant neoplasm of soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of the soft palate malignant neoplasm of the soft palate Malignant Neoplasm of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant neoplasm of the soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate neoplasm malignant soft palate neoplasm Malignant Soft Palate Neoplasm NCIT:C3529 Malignant Soft Palate Neoplasm malignant soft palate neoplasm NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate tumor malignant soft palate tumor Malignant Soft Palate Tumor NCIT:C3529 Malignant Soft Palate Neoplasm malignant soft palate tumor NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of soft palate malignant tumor of soft palate Malignant Tumor of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant tumor of soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of the soft palate malignant tumor of the soft palate Malignant Tumor of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant tumor of the soft palate NCIT:C3529 -MONDO:0004611 soft palate cancer oio:hasExactSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma soft palate cancer NCIT:C8395 MONDO:0004612 malignant histiocytosis oio:hasExactSynonym histiocytic medullary reticulosis histiocytic medullary reticulosis Histiocytic Medullary Reticulosis NCIT:C7202 Malignant Histiocytosis histiocytic medullary reticulosis NCIT:C7202 MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym acute intestinal ischemia acute intestinal ischemia Acute Intestinal Ischemia NCIT:C34356 Acute Intestinal Ischemia acute intestinal ischemia NCIT:C34356 MONDO:0004619 measles oio:hasExactSynonym rubeola infection rubeola infection Rubeola Infection NCIT:C96406 Measles rubeola infection NCIT:C96406 @@ -8353,10 +8263,10 @@ MONDO:0004643 myeloid leukemia oio:hasExactSynonym leukemia, granulocytic, mali MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelocytic leukemia myelocytic leukemia Myelocytic Leukemia NCIT:C3172 Myeloid Leukemia myelocytic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelogenous leukemia myelogenous leukemia Myelogenous Leukemia NCIT:C3172 Myeloid Leukemia myelogenous leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym myeloid leukemia myeloid leukemia Myeloid Leukemia NCIT:C3172 Myeloid Leukemia myeloid leukemia NCIT:C3172 -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa neoplasm malignant buccal mucosa neoplasm Malignant Buccal Mucosa Neoplasm NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant buccal mucosa neoplasm NCIT:C9320 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa tumor malignant buccal mucosa tumor Malignant Buccal Mucosa Tumor NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant buccal mucosa tumor NCIT:C9320 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant neoplasm of buccal mucosa malignant neoplasm of buccal mucosa Malignant Neoplasm of Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant neoplasm of buccal mucosa NCIT:C9320 @@ -8375,12 +8285,12 @@ MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactS MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical CML atypical CML Atypical CML NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical CML NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia atypical chronic myeloid leukemia Atypical Chronic Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical chronic myeloid leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia, BCR-ABL1 Negative atypical chronic myeloid leukemia, BCR-ABL1 Negative Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical chronic myeloid leukemia, BCR-ABL1 Negative NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute granulocytic leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute Myelogenous Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 MONDO:0004656 rubella oio:hasExactSynonym Rubella infection Rubella infection Rubella Infection NCIT:C85051 Rubella Infection Rubella infection NCIT:C85051 MONDO:0004656 rubella oio:hasExactSynonym german measles german measles German Measles NCIT:C85051 Rubella Infection german measles NCIT:C85051 MONDO:0004656 rubella oio:hasExactSynonym three-Day Measles three-Day Measles Three-Day Measles NCIT:C85051 Rubella Infection three-Day Measles NCIT:C85051 @@ -8443,7 +8353,6 @@ MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual gland tumor malignant sublingual gland tumor Malignant Sublingual Gland Tumor NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant sublingual gland tumor NCIT:C3527 MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of sublingual gland malignant tumor of sublingual gland Malignant Tumor of Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant tumor of sublingual gland NCIT:C3527 MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of the sublingual gland malignant tumor of the sublingual gland Malignant Tumor of the Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant tumor of the sublingual gland NCIT:C3527 -MONDO:0004667 sublingual gland cancer oio:hasExactSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma sublingual gland cancer NCIT:C8397 MONDO:0004668 fascioliasis oio:hasExactSynonym Fasciolosis NCIT:C128387 Fasciolosis Fasciolosis NCIT:C128387 MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of salivary gland cancer of salivary gland Cancer of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm cancer of salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of the salivary gland cancer of the salivary gland Cancer of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm cancer of the salivary gland NCIT:C3811 @@ -8454,14 +8363,13 @@ MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant salivary glan MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of salivary gland malignant tumor of salivary gland Malignant Tumor of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm malignant tumor of salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of the salivary gland malignant tumor of the salivary gland Malignant Tumor of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm malignant tumor of the salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm salivary gland cancer NCIT:C3811 -MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma salivary gland cancer NCIT:C9272 MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus lupus Lupus NCIT:C27153 Lupus Erythematosus lupus NCIT:C27153 MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus erythematosus lupus erythematosus Lupus Erythematosus NCIT:C27153 Lupus Erythematosus lupus erythematosus NCIT:C27153 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen disease of the penis Bowen disease of the penis Bowen Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ Bowen disease of the penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of penis Bowen's disease of penis Bowen's Disease of Penis NCIT:C27790 Penile Carcinoma In Situ Bowen's disease of penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of the penis Bowen's disease of the penis Bowen's Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ Bowen's disease of the penis NCIT:C27790 -MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia Queyrat erythroplasia Queyrat Erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 +MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat's erythroplasia Queyrat's erythroplasia Queyrat's Erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat's erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of penis carcinoma in situ of penis Carcinoma in situ of Penis NCIT:C27790 Penile Carcinoma In Situ carcinoma in situ of penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of the penis carcinoma in situ of the penis Carcinoma in situ of the Penis NCIT:C27790 Penile Carcinoma In Situ carcinoma in situ of the penis NCIT:C27790 @@ -8479,8 +8387,8 @@ MONDO:0004684 plantar fibromatosis oio:hasExactSynonym Ledderhose's disease Led MONDO:0004684 plantar fibromatosis oio:hasExactSynonym plantar fibromatosis plantar fibromatosis Plantar Fibromatosis NCIT:C4680 Plantar Fibromatosis plantar fibromatosis NCIT:C4680 MONDO:0004691 autosomal dominant polycystic kidney disease oio:hasExactSynonym autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease Autosomal Dominant Polycystic Kidney Disease NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL autosomal dominant polycystic kidney disease NCIT:C84578 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym carcinoma, squamous cell, in situ, malignant carcinoma, squamous cell, in situ, malignant CARCINOMA, SQUAMOUS CELL, IN SITU, MALIGNANT NCIT:C27093 Stage 0 Squamous Cell Carcinoma carcinoma, squamous cell, in situ, malignant NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade 3 SIN grade 3 SIN Grade 3 SIN NCIT:C27093 Stage 0 Squamous Cell Carcinoma grade 3 SIN NCIT:C27093 @@ -8489,10 +8397,10 @@ MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III SIN grad MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III squamous intraepithelial neoplasia grade III squamous intraepithelial neoplasia Grade III Squamous Intraepithelial Neoplasia NCIT:C27093 Stage 0 Squamous Cell Carcinoma grade III squamous intraepithelial neoplasia NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma intraepithelial squamous cell carcinoma NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial squamous cell carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma intraepithelial squamous cell carcinoma NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in-situ squamous cell carcinoma in-situ Squamous Cell Carcinoma in-situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in-situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym stage 0 squamous cell carcinoma stage 0 squamous cell carcinoma Stage 0 Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma stage 0 squamous cell carcinoma NCIT:C27093 MONDO:0004695 liver lymphoma oio:hasExactSynonym hepatic lymphoma hepatic lymphoma Hepatic Lymphoma NCIT:C4949 Liver Lymphoma hepatic lymphoma NCIT:C4949 @@ -8543,7 +8451,6 @@ MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of parot MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid malignant tumor of the parotid Malignant Tumor of the Parotid NCIT:C3525 Malignant Parotid Gland Neoplasm malignant tumor of the parotid NCIT:C3525 MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid gland malignant tumor of the parotid gland Malignant Tumor of the Parotid Gland NCIT:C3525 Malignant Parotid Gland Neoplasm malignant tumor of the parotid gland NCIT:C3525 MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm parotid gland cancer NCIT:C3525 -MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma parotid gland cancer NCIT:C6791 MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of the uterus polyp of the uterus Polyp of the Uterus NCIT:C3662 Uterine Polyp polyp of the uterus NCIT:C3662 MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of uterus polyp of uterus Polyp of Uterus NCIT:C3662 Uterine Polyp polyp of uterus NCIT:C3662 MONDO:0004701 uterine polyp oio:hasExactSynonym uterine polyp uterine polyp Uterine Polyp NCIT:C3662 Uterine Polyp uterine polyp NCIT:C3662 @@ -8708,9 +8615,9 @@ MONDO:0004767 vesiculitis oio:hasExactSynonym seminal vesicles seminal vesicles MONDO:0004770 exophthalmos oio:hasExactSynonym exophthalmos exophthalmos Exophthalmos NCIT:C118763 Exophthalmos exophthalmos NCIT:C118763 MONDO:0004773 iridocyclitis oio:hasExactSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis iridocyclitis NCIT:C34736 MONDO:0004779 epididymitis oio:hasExactSynonym epididymal epididymal Epididymal NCIT:C12328 Epididymis epididymal NCIT:C12328 -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis epididymis NCIT:C12328 MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis Epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis epididymis NCIT:C12328 +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Mullerian papilloma cervical Mullerian papilloma Cervical Mullerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma cervical Mullerian papilloma NCIT:C40215 MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Müllerian papilloma cervical Müllerian papilloma Cervical Müllerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma cervical Müllerian papilloma NCIT:C40215 MONDO:0004788 cervix squamous papilloma oio:hasExactSynonym cervical squamous papilloma cervical squamous papilloma Cervical Squamous Papilloma NCIT:C6342 Cervical Squamous Papilloma cervical squamous papilloma NCIT:C6342 @@ -8774,8 +8681,8 @@ MONDO:0004846 placental abruption oio:hasExactSynonym abruptio placentae abrupt MONDO:0004846 placental abruption oio:hasExactSynonym placental abruption placental abruption Placental Abruption NCIT:C26685 Placental Abruption placental abruption NCIT:C26685 MONDO:0004846 placental abruption oio:hasExactSynonym premature separation of placenta premature separation of placenta Premature Separation of Placenta NCIT:C26685 Placental Abruption premature separation of placenta NCIT:C26685 MONDO:0004848 ulcerative stomatitis oio:hasExactSynonym ulcerative stomatitis ulcerative stomatitis Ulcerative Stomatitis NCIT:C35039 Ulcerative Stomatitis ulcerative stomatitis NCIT:C35039 -MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema EMPHYSEMA NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 +MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym neonatal conjunctivitis neonatal conjunctivitis Neonatal Conjunctivitis NCIT:C116815 Ophthalmia Neonatorum neonatal conjunctivitis NCIT:C116815 MONDO:0004857 tendinitis oio:hasExactSynonym tendonitis tendonitis Tendonitis NCIT:C97141 Tendonitis tendonitis NCIT:C97141 MONDO:0004872 hemorrhoid oio:hasExactSynonym hemorrhoid hemorrhoid Hemorrhoid NCIT:C26792 Hemorrhoid hemorrhoid NCIT:C26792 @@ -8814,12 +8721,12 @@ MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell CL MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia B-Cell Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphoid leukemia B-cell chronic lymphoid leukemia B-Cell Chronic Lymphoid Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell chronic lymphoid leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell lymphocytic leukemia B-cell lymphocytic leukemia B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell lymphocytic leukemia NCIT:C3163 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic B-cell lymphocytic leukemia chronic B-cell lymphocytic leukemia Chronic B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic B-cell lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphatic leukemia chronic lymphatic leukemia Chronic lymphatic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphatic leukemia NCIT:C3163 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia (CLL) chronic lymphocytic leukemia (CLL) Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia (CLL) NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym hematopoeitic - chronic lymphocytic leukemia (CLL) hematopoeitic - chronic lymphocytic leukemia (CLL) Hematopoeitic - Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia hematopoeitic - chronic lymphocytic leukemia (CLL) NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym BCLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BCLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8835,8 +8742,6 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's Disease NCIT:C9 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's disease Hodgkin's disease Hodgkin's Disease NCIT:C9357 Hodgkin Lymphoma Hodgkin's disease NCIT:C9357 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's lymphoma Hodgkin's lymphoma Hodgkin's Lymphoma NCIT:C9357 Hodgkin Lymphoma Hodgkin's lymphoma NCIT:C9357 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym HL NCIT:C9357 Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HL NCIT:C9357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma ductal adenocarcinoma NCIT:C4017 -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma ductal adenocarcinoma NCIT:C4017 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal adenocarcinoma infiltrating ductal adenocarcinoma Infiltrating Ductal Adenocarcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal adenocarcinoma NCIT:C4194 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal breast carcinoma infiltrating ductal breast carcinoma Infiltrating Ductal Breast Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal breast carcinoma NCIT:C4194 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal carcinoma infiltrating ductal carcinoma Infiltrating Ductal Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal carcinoma NCIT:C4194 @@ -8854,16 +8759,16 @@ MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym metastatic pros MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate cancer metastatic prostate cancer metastatic Prostate Cancer Metastatic NCIT:C8946 Metastatic Prostate Carcinoma prostate cancer metastatic NCIT:C8946 MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate carcinoma metastatic prostate carcinoma metastatic Prostate Carcinoma Metastatic NCIT:C8946 Metastatic Prostate Carcinoma prostate carcinoma metastatic NCIT:C8946 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym adenocarcinoma, mucinous, malignant adenocarcinoma, mucinous, malignant ADENOCARCINOMA, MUCINOUS, MALIGNANT NCIT:C26712 Mucinous Adenocarcinoma adenocarcinoma, mucinous, malignant NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid carcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid Carcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucoid adenocarcinoma mucoid adenocarcinoma Mucoid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucoid adenocarcinoma NCIT:C26712 @@ -8874,7 +8779,6 @@ MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma mucous adenocarcinoma Mucous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C5243 Ovarian Mucinous Adenocarcinoma mucinous carcinoma NCIT:C5243 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth scc mouth scc Mouth SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma mouth scc NCIT:C4833 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth squamous cell carcinoma mouth squamous cell carcinoma Mouth Squamous Cell Carcinoma NCIT:C4833 Oral Cavity Squamous Cell Carcinoma mouth squamous cell carcinoma NCIT:C4833 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oral cavity scc oral cavity scc Oral Cavity SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma oral cavity scc NCIT:C4833 @@ -8890,8 +8794,8 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the oral cavity squamous cell carcinoma of the oral cavity Squamous Cell Carcinoma of the Oral Cavity NCIT:C4833 Oral Cavity Squamous Cell Carcinoma squamous cell carcinoma of the oral cavity NCIT:C4833 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell dyscrasia plasma cell dyscrasia Plasma Cell Dyscrasia NCIT:C4665 Plasma Cell Neoplasm plasma cell dyscrasia NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell neoplasm plasma cell neoplasm Plasma Cell Neoplasm NCIT:C4665 Plasma Cell Neoplasm plasma cell neoplasm NCIT:C4665 -MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma cell tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 +MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor, malignant plasma cell tumor, malignant PLASMA CELL TUMOR, MALIGNANT NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor, malignant NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic neoplasm plasmacytic neoplasm Plasmacytic Neoplasm NCIT:C4665 Plasma Cell Neoplasm plasmacytic neoplasm NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic tumor plasmacytic tumor Plasmacytic Tumor NCIT:C4665 Plasma Cell Neoplasm plasmacytic tumor NCIT:C4665 @@ -8907,16 +8811,14 @@ MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-c MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-cell lymphocytic leukemia acute T-cell lymphocytic leukemia Acute T-Cell Lymphocytic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia acute T-cell lymphocytic leukemia NCIT:C3183 MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym precursor T-lymphoblastic leukemia precursor T-lymphoblastic leukemia Precursor T-Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia precursor T-lymphoblastic leukemia NCIT:C3183 MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T-ALL NCIT:C3183 T Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION T-ALL NCIT:C3183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia T acute lymphoblastic leukemia NCIT:C7953 -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T acute lymphoblastic leukemia NCIT:C9142 MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-Cell Lymphoma, Not Otherwise Specified NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified peripheral T-cell lymphoma, not otherwise specified NCIT:C4340 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar adenocarcinoma NCIT:C3768 -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell adenocarcinoma acinar cell adenocarcinoma Acinar Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell adenocarcinoma NCIT:C3768 -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic cell adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell carcinoma acinic cell carcinoma Acinic Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell carcinoma NCIT:C3768 @@ -8924,33 +8826,26 @@ MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym carcinoma, acinar cell, MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis NCIT:C26780 Gastritis gastritis NCIT:C26780 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL - acute lymphocytic leukemia ALL - acute lymphocytic leukemia ALL - Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia ALL - acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia acute lymphoblastic leukemia Acute Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia NCIT:C3167 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute lymphocytic leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemias acute lymphocytic leukemias Acute Lymphocytic Leukemias NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemias NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphogenous leukemia acute lymphogenous leukemia Acute Lymphogenous Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphogenous leukemia NCIT:C3167 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute Lymphoid Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym leukemia, lymphoblastic, malignant leukemia, lymphoblastic, malignant LEUKEMIA, LYMPHOBLASTIC, MALIGNANT NCIT:C3167 Acute Lymphoblastic Leukemia leukemia, lymphoblastic, malignant NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor Lymphoblasic leukemia precursor Lymphoblasic leukemia Precursor Lymphoblasic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor Lymphoblasic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor cell lymphoblastic leukemia precursor cell lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor cell lymphoblastic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor lymphoblastic leukemia precursor lymphoblastic leukemia Precursor Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor lymphoblastic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukaemia acute lymphocytic leukaemia Acute Lymphocytic Leukaemia NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute lymphocytic leukaemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALL NCIT:C3167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3168 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma adenocarcinoma NCIT:C27813 MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C2852 Adenocarcinoma adenocarcinoma NCIT:C2852 MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma, malignant adenocarcinoma, malignant ADENOCARCINOMA, MALIGNANT NCIT:C2852 Adenocarcinoma adenocarcinoma, malignant NCIT:C2852 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma adenocarcinoma NCIT:C3512 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4004 Gastric Adenocarcinoma adenocarcinoma NCIT:C4004 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma adenocarcinoma NCIT:C4025 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma adenocarcinoma NCIT:C4029 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym cylindroid adenocarcinoma cylindroid adenocarcinoma Cylindroid Adenocarcinoma NCIT:C2970 Adenoid Cystic Carcinoma cylindroid adenocarcinoma NCIT:C2970 MONDO:0004972 adenoma oio:hasExactSynonym adenoma adenoma Adenoma NCIT:C2855 Adenoma adenoma NCIT:C2855 MONDO:0004973 adenosquamous lung carcinoma oio:hasExactSynonym adenosquamous cell lung carcinoma adenosquamous cell lung carcinoma Adenosquamous Cell Lung Carcinoma NCIT:C9133 Lung Adenosquamous Carcinoma adenosquamous cell lung carcinoma NCIT:C9133 @@ -8970,8 +8865,8 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym chromaffin par MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym PCC NCIT:C3326 Adrenal Gland Pheochromocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCC NCIT:C3326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease Alzheimer disease Alzheimer Disease NCIT:C2866 Alzheimer's Disease Alzheimer disease NCIT:C2866 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's dementia Alzheimer's dementia Alzheimer's Dementia NCIT:C2866 Alzheimer's Disease Alzheimer's dementia NCIT:C2866 -MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 +MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease Lou Gehrig disease Lou Gehrig Disease NCIT:C34373 Amyotrophic Lateral Sclerosis Lou Gehrig disease NCIT:C34373 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis NCIT:C34373 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS NCIT:C34373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9022,7 +8917,6 @@ MONDO:0004989 breast carcinoma oio:hasExactSynonym breast carcinoma breast carc MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of breast carcinoma of breast Carcinoma of Breast NCIT:C4872 Breast Carcinoma carcinoma of breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of the breast carcinoma of the breast Carcinoma of the Breast NCIT:C4872 Breast Carcinoma carcinoma of the breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym mammary carcinoma mammary carcinoma Mammary Carcinoma NCIT:C4872 Breast Carcinoma mammary carcinoma NCIT:C4872 -MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ bronchioloalveolar carcinoma NCIT:C136486 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of lung bronchioalveolar adenocarcinoma of lung Bronchioalveolar Adenocarcinoma of Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar adenocarcinoma of lung NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of the lung bronchioalveolar adenocarcinoma of the lung Bronchioalveolar Adenocarcinoma of the Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar adenocarcinoma of the lung NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar lung carcinoma bronchioalveolar lung carcinoma Bronchioalveolar Lung Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar lung carcinoma NCIT:C2923 @@ -9036,7 +8930,6 @@ MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronch MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym carcinoma, bronchioloalveolar, malignant carcinoma, bronchioloalveolar, malignant CARCINOMA, BRONCHIOLOALVEOLAR, MALIGNANT NCIT:C2923 Minimally Invasive Lung Adenocarcinoma carcinoma, bronchioloalveolar, malignant NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym minimally invasive lung adenocarcinoma minimally invasive lung adenocarcinoma Minimally Invasive Lung Adenocarcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma minimally invasive lung adenocarcinoma NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym BAC bac BAC NCIT:C2923 Minimally Invasive Lung Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION BAC NCIT:C2923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004992 cancer oio:hasExactSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm malignant neoplasm NCIT:C4005 MONDO:0004992 cancer oio:hasExactSynonym cancer cancer Cancer NCIT:C9305 Malignant Neoplasm cancer NCIT:C9305 MONDO:0004992 cancer oio:hasExactSynonym malignancy malignancy Malignancy NCIT:C9305 Malignant Neoplasm malignancy NCIT:C9305 MONDO:0004992 cancer oio:hasExactSynonym malignant growth malignant growth Malignant Growth NCIT:C9305 Malignant Neoplasm malignant growth NCIT:C9305 @@ -9054,8 +8947,8 @@ MONDO:0004993 carcinoma oio:hasExactSynonym epithelioma malignant epithelioma m MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial neoplasm malignant epithelial neoplasm Malignant Epithelial Neoplasm NCIT:C2916 Carcinoma malignant epithelial neoplasm NCIT:C2916 MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial tumor malignant epithelial tumor Malignant Epithelial Tumor NCIT:C2916 Carcinoma malignant epithelial tumor NCIT:C2916 MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelioma malignant epithelioma Malignant Epithelioma NCIT:C2916 Carcinoma malignant epithelioma NCIT:C2916 -MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy CARDIOMYOPATHY NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 +MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease cardiovascular disease Cardiovascular Disease NCIT:C2931 Cardiovascular Disorder cardiovascular disease NCIT:C2931 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease (CVD) cardiovascular disease (CVD) Cardiovascular Disease (CVD) NCIT:C2931 Cardiovascular Disorder cardiovascular disease (CVD) NCIT:C2931 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disorder cardiovascular disorder Cardiovascular Disorder NCIT:C2931 Cardiovascular Disorder cardiovascular disorder NCIT:C2931 @@ -9096,8 +8989,8 @@ MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor Graw MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood clear cell sarcoma of the kidney childhood clear cell sarcoma of the kidney Childhood Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood clear cell sarcoma of the kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood kidney clear cell sarcoma childhood kidney clear cell sarcoma Childhood Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood kidney clear cell sarcoma NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood renal clear cell sarcoma childhood renal clear cell sarcoma Childhood Renal Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood renal clear cell sarcoma NCIT:C4264 -MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear Cell Sarcoma of Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 +MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of the kidney clear cell sarcoma of the kidney Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of the kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym kidney clear cell sarcoma kidney clear cell sarcoma Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney kidney clear cell sarcoma NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym pediatric kidney clear cell sarcoma pediatric kidney clear cell sarcoma Pediatric Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney pediatric kidney clear cell sarcoma NCIT:C4264 @@ -9152,7 +9045,6 @@ MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes mellitus Diabetes Mellitus NCIT:C2985 Diabetes Mellitus diabetes mellitus NCIT:C2985 MONDO:0005015 diabetes mellitus oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005016 diabetic kidney disease oio:hasExactSynonym diabetic nephropathy diabetic nephropathy Diabetic Nephropathy NCIT:C84417 Diabetic Nephropathy diabetic nephropathy NCIT:C84417 -MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym carcinoma, diffuse type carcinoma, diffuse type Carcinoma, diffuse type NCIT:C4127 Diffuse Type Adenocarcinoma carcinoma, diffuse type NCIT:C4127 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of linitis plastica type adenocarcinoma of linitis plastica type Adenocarcinoma of Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma adenocarcinoma of linitis plastica type NCIT:C9159 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of the linitis plastica type adenocarcinoma of the linitis plastica type Adenocarcinoma of the Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma adenocarcinoma of the linitis plastica type NCIT:C9159 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym diffuse adenocarcinoma of stomach diffuse adenocarcinoma of stomach Diffuse Adenocarcinoma of Stomach NCIT:C9159 Gastric Diffuse Adenocarcinoma diffuse adenocarcinoma of stomach NCIT:C9159 @@ -9203,8 +9095,8 @@ MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym adenocarcinoma of t MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophageal adenocarcinoma esophageal adenocarcinoma Esophageal Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma esophageal adenocarcinoma NCIT:C4025 MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophagus adenocarcinoma esophagus adenocarcinoma Esophagus Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma esophagus adenocarcinoma NCIT:C4025 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytemia essential thrombocytemia Essential Thrombocytemia NCIT:C3407 Essential Thrombocythemia essential thrombocytemia NCIT:C3407 -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential Thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytosis essential thrombocytosis Essential Thrombocytosis NCIT:C3407 Essential Thrombocythemia essential thrombocytosis NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocythemia primary thrombocythemia Primary Thrombocythemia NCIT:C3407 Essential Thrombocythemia primary thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocytosis primary thrombocytosis Primary Thrombocytosis NCIT:C3407 Essential Thrombocythemia primary thrombocytosis NCIT:C3407 @@ -9222,8 +9114,8 @@ MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of the thy MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid adenoma of thyroid Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma of thyroid NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid gland adenoma of thyroid gland Adenoma of Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma of thyroid gland NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma, follicular cell, benign adenoma, follicular cell, benign ADENOMA, FOLLICULAR CELL, BENIGN NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma, follicular cell, benign NCIT:C3502 -MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular Adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 +MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid follicular adenoma of the thyroid Follicular Adenoma of the Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of the thyroid NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid gland follicular adenoma of the thyroid gland Follicular Adenoma of the Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of the thyroid gland NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of thyroid follicular adenoma of thyroid Follicular Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of thyroid NCIT:C3502 @@ -9266,14 +9158,12 @@ MONDO:0005039 reproductive system disorder oio:hasExactSynonym disorder of repr MONDO:0005039 reproductive system disorder oio:hasExactSynonym genital disorders genital disorders Genital Disorders NCIT:C4875 Reproductive System Disorder genital disorders NCIT:C4875 MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disease reproductive system disease Reproductive System Disease NCIT:C4875 Reproductive System Disorder reproductive system disease NCIT:C4875 MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disorder reproductive system disorder Reproductive System Disorder NCIT:C4875 Reproductive System Disorder reproductive system disorder NCIT:C4875 -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor germ cell tumor NCIT:C114777 MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell neoplasm germ cell neoplasm Germ Cell Neoplasm NCIT:C3708 Germ Cell Tumor germ cell neoplasm NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor germ cell tumor NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of germ cell neoplasm of germ cell Neoplasm of Germ Cell NCIT:C3708 Germ Cell Tumor neoplasm of germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of the germ cell neoplasm of the germ cell Neoplasm of the Germ Cell NCIT:C3708 Germ Cell Tumor neoplasm of the germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of germ cell tumor of germ cell Tumor of Germ Cell NCIT:C3708 Germ Cell Tumor tumor of germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of the germ cell tumor of the germ cell Tumor of the Germ Cell NCIT:C3708 Germ Cell Tumor tumor of the germ cell NCIT:C3708 -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor germ cell tumor NCIT:C7928 MONDO:0005041 glaucoma oio:hasExactSynonym glaucoma glaucoma Glaucoma NCIT:C26782 Glaucoma glaucoma NCIT:C26782 MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia HYPERPLASIA NCIT:C3113 Hyperplasia hyperplasia NCIT:C3113 MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia Hyperplasia NCIT:C3113 Hyperplasia hyperplasia NCIT:C3113 @@ -9313,19 +9203,17 @@ MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltratin MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltrating lobular carcinoma of the breast infiltrating lobular carcinoma of the breast Infiltrating Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma infiltrating lobular carcinoma of the breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular adenocarcinoma invasive lobular adenocarcinoma Invasive Lobular Adenocarcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular adenocarcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular breast carcinoma invasive lobular breast carcinoma Invasive Lobular Breast Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular breast carcinoma NCIT:C7950 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive Lobular Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 +MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of breast invasive lobular carcinoma of breast Invasive Lobular Carcinoma of Breast NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma of breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of the breast invasive lobular carcinoma of the breast Invasive Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma of the breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma, classic type invasive lobular carcinoma, classic type Invasive Lobular Carcinoma, Classic Type NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma, classic type NCIT:C7950 -MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBD NCIT:C3138 Inflammatory Bowel Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD NCIT:C3138 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym irritable bowel syndrome irritable bowel syndrome Irritable Bowel Syndrome NCIT:C82343 Irritable Bowel Syndrome irritable bowel syndrome NCIT:C82343 MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi's sarcoma Kaposi's sarcoma Kaposi's Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi's sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym KS NCIT:C9087 Kaposi Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KS NCIT:C9087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, keratinizing squamous cell carcinoma, keratinizing Squamous Cell Carcinoma, Keratinizing NCIT:C40187 Cervical Keratinizing Squamous Cell Carcinoma squamous cell carcinoma, keratinizing NCIT:C40187 MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma Keratinizing Squamous Cell Carcinoma NCIT:C4105 Keratinizing Squamous Cell Carcinoma keratinizing squamous cell carcinoma NCIT:C4105 MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell NEC large cell NEC Large Cell NEC NCIT:C6875 Large Cell Neuroendocrine Carcinoma large cell NEC NCIT:C6875 MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large Cell Neuroendocrine Carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma large cell neuroendocrine carcinoma NCIT:C6875 @@ -9341,11 +9229,8 @@ MONDO:0005059 leukemia oio:hasExactSynonym leukemia, disease leukemia, disease MONDO:0005059 leukemia oio:hasExactSynonym leukemia, malignant leukemia, malignant LEUKEMIA, MALIGNANT NCIT:C3161 Leukemia leukemia, malignant NCIT:C3161 MONDO:0005059 leukemia oio:hasExactSynonym leukemias leukemias Leukemias NCIT:C3161 Leukemia leukemias NCIT:C3161 MONDO:0005059 leukemia oio:hasExactSynonym leukemias, general leukemias, general Leukemias, General NCIT:C3161 Leukemia leukemias, general NCIT:C3161 -MONDO:0005059 leukemia oio:hasExactSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia leukemia NCIT:C4989 MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma liposarcoma NCIT:C3194 MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma, malignant liposarcoma, malignant LIPOSARCOMA, MALIGNANT NCIT:C3194 Liposarcoma liposarcoma, malignant NCIT:C3194 -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma liposarcoma NCIT:C7811 -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma liposarcoma NCIT:C8091 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of lung adenocarcinoma of lung Adenocarcinoma of Lung NCIT:C3512 Lung Adenocarcinoma adenocarcinoma of lung NCIT:C3512 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of the lung adenocarcinoma of the lung Adenocarcinoma of the Lung NCIT:C3512 Lung Adenocarcinoma adenocarcinoma of the lung NCIT:C3512 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym lung adenocarcinoma lung adenocarcinoma Lung Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma lung adenocarcinoma NCIT:C3512 @@ -9355,8 +9240,6 @@ MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma (Hodgkin's and non-Hodgkin' MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma, malignant lymphoma, malignant LYMPHOMA, MALIGNANT NCIT:C3208 Lymphoma lymphoma, malignant NCIT:C3208 MONDO:0005062 lymphoma oio:hasExactSynonym lymphomatous lymphomatous Lymphomatous NCIT:C3208 Lymphoma lymphomatous NCIT:C3208 MONDO:0005062 lymphoma oio:hasExactSynonym malignant lymphoma malignant lymphoma Malignant Lymphoma NCIT:C3208 Lymphoma malignant lymphoma NCIT:C3208 -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma lymphoma NCIT:C5165 -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma lymphoma NCIT:C7587 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of breast infiltrating medullary carcinoma of breast Infiltrating Medullary Carcinoma of Breast NCIT:C9119 Breast Medullary Carcinoma infiltrating medullary carcinoma of breast NCIT:C9119 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of the breast infiltrating medullary carcinoma of the breast Infiltrating Medullary Carcinoma of the Breast NCIT:C9119 Breast Medullary Carcinoma infiltrating medullary carcinoma of the breast NCIT:C9119 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym invasive medullary breast carcinoma invasive medullary breast carcinoma Invasive Medullary Breast Carcinoma NCIT:C9119 Breast Medullary Carcinoma invasive medullary breast carcinoma NCIT:C9119 @@ -9380,15 +9263,14 @@ MONDO:0005070 neoplasm oio:hasExactSynonym neoplasia neoplasia Neoplasia NCIT:C MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C3262 Neoplasm neoplasm NCIT:C3262 MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic disease neoplastic disease Neoplastic Disease NCIT:C3262 Neoplasm neoplastic disease NCIT:C3262 MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic growth neoplastic growth Neoplastic Growth NCIT:C3262 Neoplasm neoplastic growth NCIT:C3262 -MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C6283 Childhood Neoplasm neoplasm NCIT:C6283 MONDO:0005071 nervous system disorder oio:hasExactSynonym disorder of nervous system disorder of nervous system Disorder of Nervous System NCIT:C26835 Nervous System Disorder disorder of nervous system NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym nervous system disorder nervous system disorder Nervous System Disorder NCIT:C26835 Nervous System Disorder nervous system disorder NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym neurologic disorder neurologic disorder Neurologic Disorder NCIT:C26835 Nervous System Disorder neurologic disorder NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym neurological disorder neurological disorder Neurological Disorder NCIT:C26835 Nervous System Disorder neurological disorder NCIT:C26835 MONDO:0005072 neuroblastoma oio:hasExactSynonym neural Crest tumor, malignant neural Crest tumor, malignant Neural Crest Tumor, Malignant NCIT:C3270 Neuroblastoma neural Crest tumor, malignant NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma neuroblastoma Neuroblastoma NCIT:C3270 Neuroblastoma neuroblastoma NCIT:C3270 -MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-Poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 +MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma, malignant neuroblastoma, malignant NEUROBLASTOMA, MALIGNANT NCIT:C3270 Neuroblastoma neuroblastoma, malignant NCIT:C3270 MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic nevus NCIT:C7570 Melanocytic Nevus melanocytic Nevus NCIT:C7570 MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic Nevus NCIT:C7570 Melanocytic Nevus melanocytic Nevus NCIT:C7570 @@ -9403,8 +9285,8 @@ MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary c MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary cancer of thyroid gland papillary cancer of thyroid gland Papillary Cancer of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary cancer of thyroid gland NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid papillary carcinoma of the thyroid Papillary Carcinoma of the Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of the thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid gland papillary carcinoma of the thyroid gland Papillary Carcinoma of the Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of the thyroid gland NCIT:C4035 -MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary Carcinoma of Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 +MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid gland papillary carcinoma of thyroid gland Papillary Carcinoma of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid gland NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid cancer papillary thyroid cancer Papillary Thyroid Cancer NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary thyroid cancer NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid carcinoma papillary thyroid carcinoma Papillary Thyroid Carcinoma NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary thyroid carcinoma NCIT:C4035 @@ -9434,18 +9316,15 @@ MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma of the soft tissue and bone s MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma, malignant sarcoma, malignant SARCOMA, MALIGNANT NCIT:C9118 Sarcoma sarcoma, malignant NCIT:C9118 MONDO:0005090 schizophrenia oio:hasExactSynonym schizophrenia schizophrenia Schizophrenia NCIT:C3362 Schizophrenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizophrenia NCIT:C3362 MONDO:0005091 severe acute respiratory syndrome oio:hasExactSynonym SARS NCIT:C85064 Severe Acute Respiratory Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SARS NCIT:C85064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet Ring Cell Adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 +MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet Ring Cell Carcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C3774 -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C5720 Pancreatic Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C5720 MONDO:0005093 skin disorder oio:hasExactSynonym cutaneous disorder cutaneous disorder Cutaneous Disorder NCIT:C3371 Skin Disorder cutaneous disorder NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym disorder of skin disorder of skin Disorder of Skin NCIT:C3371 Skin Disorder disorder of skin NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym skin diseases and manifestations skin diseases and manifestations Skin Diseases and Manifestations NCIT:C3371 Skin Disorder skin diseases and manifestations NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym skin disorder skin disorder Skin Disorder NCIT:C3371 Skin Disorder skin disorder NCIT:C3371 MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma hemangiopericytoma NCIT:C3087 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma hemangiopericytoma NCIT:C50401 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor hemangiopericytoma NCIT:C7634 MONDO:0005095 spondyloarthropathy oio:hasExactSynonym seronegative spondyloarthropathy seronegative spondyloarthropathy Seronegative Spondyloarthropathy NCIT:C116778 Spondyloarthritis seronegative spondyloarthropathy NCIT:C116778 MONDO:0005095 spondyloarthropathy oio:hasExactSynonym spondyloarthritis spondyloarthritis Spondyloarthritis NCIT:C116778 Spondyloarthritis spondyloarthritis NCIT:C116778 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym carcinoma, squamous cell, malignant carcinoma, squamous cell, malignant CARCINOMA, SQUAMOUS CELL, MALIGNANT NCIT:C2929 Squamous Cell Carcinoma carcinoma, squamous cell, malignant NCIT:C2929 @@ -9455,8 +9334,8 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid cell tumor malignant epidermoid cell tumor Malignant Epidermoid Cell Tumor NCIT:C2929 Squamous Cell Carcinoma malignant epidermoid cell tumor NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell neoplasm malignant squamous cell neoplasm Malignant Squamous Cell Neoplasm NCIT:C2929 Squamous Cell Carcinoma malignant squamous cell neoplasm NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell tumor malignant squamous cell tumor Malignant Squamous Cell Tumor NCIT:C2929 Squamous Cell Carcinoma malignant squamous cell tumor NCIT:C2929 -MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 +MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell cancer squamous cell cancer Squamous Cell Cancer NCIT:C2929 Squamous Cell Carcinoma squamous cell cancer NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma squamous cell carcinoma Squamous Cell Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous cell carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous Cell Epithelioma NCIT:C2929 Squamous Cell Carcinoma squamous cell epithelioma NCIT:C2929 @@ -9484,19 +9363,18 @@ MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic scleroderma syste MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic sclerosis systemic sclerosis Systemic Sclerosis NCIT:C72070 Systemic Scleroderma systemic sclerosis NCIT:C72070 MONDO:0005101 ulcerative colitis oio:hasExactSynonym colitis ulcerative colitis ulcerative Colitis Ulcerative NCIT:C2952 Ulcerative Colitis colitis ulcerative NCIT:C2952 MONDO:0005101 ulcerative colitis oio:hasExactSynonym ulcerative colitis ulcerative colitis Ulcerative Colitis NCIT:C2952 Ulcerative Colitis ulcerative colitis NCIT:C2952 -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma (undifferentiated sarcoma) Embryonal Sarcoma (Undifferentiated Sarcoma) NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma (undifferentiated sarcoma) NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated (embryonal) sarcoma undifferentiated (embryonal) sarcoma Undifferentiated (Embryonal) Sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated (embryonal) sarcoma NCIT:C27096 -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated Sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym UES NCIT:C27096 Liver Embryonal Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION UES NCIT:C27096 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005105 melanoma oio:hasExactSynonym malignant melanoma malignant melanoma Malignant Melanoma NCIT:C3224 Melanoma malignant melanoma NCIT:C3224 MONDO:0005105 melanoma oio:hasExactSynonym melanoma melanoma Melanoma NCIT:C3224 Melanoma melanoma NCIT:C3224 MONDO:0005105 melanoma oio:hasExactSynonym melanoma, malignant melanoma, malignant MELANOMA, MALIGNANT NCIT:C3224 Melanoma melanoma, malignant NCIT:C3224 MONDO:0005106 lipoma oio:hasExactSynonym lipoma lipoma Lipoma NCIT:C3192 Lipoma lipoma NCIT:C3192 MONDO:0005106 lipoma oio:hasExactSynonym lipoma, benign lipoma, benign LIPOMA, BENIGN NCIT:C3192 Lipoma lipoma, benign NCIT:C3192 -MONDO:0005106 lipoma oio:hasExactSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm benign tumor of adipose tissue NCIT:C4502 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disease viral disease Viral Disease NCIT:C3439 Viral Infection viral disease NCIT:C3439 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disorder viral disorder Viral Disorder NCIT:C3439 Viral Infection viral disorder NCIT:C3439 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral infection viral infection Viral Infection NCIT:C3439 Viral Infection viral infection NCIT:C3439 @@ -9553,8 +9431,8 @@ MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym immune mediated diab MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type 1 diabetes type 1 diabetes Type 1 Diabetes NCIT:C2986 Type 1 Diabetes Mellitus type 1 diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I Diabetes NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I diabetes NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes NCIT:C2986 -MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 +MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym insulin dependent diabetes insulin dependent diabetes Insulin Dependent Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED insulin dependent diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym juvenile diabetes juvenile diabetes Juvenile Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED juvenile diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym IDDM NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED IDDM NCIT:C2986 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9593,10 +9471,9 @@ MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym cervix uteri adenocar MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym uterine cervix adenocarcinoma uterine cervix adenocarcinoma Uterine Cervix Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma uterine cervix adenocarcinoma NCIT:C4029 MONDO:0005154 liver disorder oio:hasExactSynonym hepatic disorder hepatic disorder Hepatic Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder hepatic disorder NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver and intrahepatic bile duct disorder liver and intrahepatic bile duct disorder Liver and Intrahepatic Bile Duct Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver and intrahepatic bile duct disorder NCIT:C3196 -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 +MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver disorder liver disorder Liver Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disorder NCIT:C3196 -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3959 Hepatobiliary Disorder liver disease NCIT:C3959 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym cirrhosis cirrhosis Cirrhosis NCIT:C2951 Cirrhosis cirrhosis NCIT:C2951 MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell neoplasm lymphocytic and plasma cell neoplasm Lymphocytic and Plasma Cell Neoplasm NCIT:C7065 Lymphocytic Neoplasm lymphocytic and plasma cell neoplasm NCIT:C7065 MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell tumor lymphocytic and plasma cell tumor Lymphocytic and Plasma Cell Tumor NCIT:C7065 Lymphocytic Neoplasm lymphocytic and plasma cell tumor NCIT:C7065 @@ -9619,8 +9496,6 @@ MONDO:0005161 human papilloma virus infection oio:hasExactSynonym Human papillo MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma fibrosarcoma NCIT:C3043 MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma, malignant fibrosarcoma, malignant FIBROSARCOMA, MALIGNANT NCIT:C3043 Fibrosarcoma fibrosarcoma, malignant NCIT:C3043 MONDO:0005164 fibrosarcoma oio:hasExactSynonym malignant fibromatous neoplasm malignant fibromatous neoplasm Malignant Fibromatous Neoplasm NCIT:C3043 Fibrosarcoma malignant fibromatous neoplasm NCIT:C3043 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma fibrosarcoma NCIT:C7809 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma fibrosarcoma NCIT:C8088 MONDO:0005165 benign neoplasm oio:hasExactSynonym benign neoplasm benign neoplasm Benign Neoplasm NCIT:C3677 Benign Neoplasm benign neoplasm NCIT:C3677 MONDO:0005166 osteoma oio:hasExactSynonym osteoma osteoma Osteoma NCIT:C3296 Osteoma osteoma NCIT:C3296 MONDO:0005166 osteoma oio:hasExactSynonym osteoma, benign osteoma, benign OSTEOMA, BENIGN NCIT:C3296 Osteoma osteoma, benign NCIT:C3296 @@ -9633,8 +9508,8 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic (solar) keratosis a MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic keratosis actinic keratosis Actinic Keratosis NCIT:C3148 Actinic Keratosis actinic keratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym solar keratosis solar keratosis Solar Keratosis NCIT:C3148 Actinic Keratosis solar keratosis NCIT:C3148 MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystadenoma serous cystadenoma Serous Cystadenoma NCIT:C3783 Serous Cystadenoma serous cystadenoma NCIT:C3783 -MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous Cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 +MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 MONDO:0005178 osteoarthritis oio:hasExactSynonym degenerative joint disease degenerative joint disease DEGENERATIVE JOINT DISEASE NCIT:C3293 Osteoarthritis degenerative joint disease NCIT:C3293 MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson's disease Parkinson's disease Parkinson's Disease NCIT:C26845 Parkinson Disease Parkinson's disease NCIT:C26845 MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease Parkinson disease Parkinson Disease NCIT:C26845 Parkinson Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Parkinson disease NCIT:C26845 @@ -9743,8 +9618,8 @@ MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic diseas MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic Disease of Breast NCIT:C3039 Breast Fibrocystic Change fibrocystic disease of breast NCIT:C3039 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of the breast fibrocystic disease of the breast Fibrocystic Disease of the Breast NCIT:C3039 Breast Fibrocystic Change fibrocystic disease of the breast NCIT:C3039 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic mastopathy fibrocystic mastopathy Fibrocystic Mastopathy NCIT:C3039 Breast Fibrocystic Change fibrocystic mastopathy NCIT:C3039 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 +MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of collecting ducts of Bellini carcinoma of collecting ducts of Bellini Carcinoma of Collecting Ducts of Bellini NCIT:C6194 Collecting Duct Carcinoma carcinoma of collecting ducts of Bellini NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of kidney collecting duct carcinoma of kidney collecting duct Carcinoma of Kidney Collecting Duct NCIT:C6194 Collecting Duct Carcinoma carcinoma of kidney collecting duct NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct Carcinoma of Renal Collecting Duct NCIT:C6194 Collecting Duct Carcinoma carcinoma of renal collecting duct NCIT:C6194 @@ -9811,10 +9686,10 @@ MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering mye MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering plasma cell myeloma smoldering plasma cell myeloma Smoldering Plasma Cell Myeloma NCIT:C7149 Smoldering Multiple Myeloma smoldering plasma cell myeloma NCIT:C7149 MONDO:0005236 xanthoma oio:hasExactSynonym xanthoma xanthoma Xanthoma NCIT:C4071 Xanthoma xanthoma NCIT:C4071 MONDO:0005238 round cell liposarcoma oio:hasExactSynonym cellular myxoid liposarcoma cellular myxoid liposarcoma Cellular Myxoid Liposarcoma NCIT:C4252 Round Cell Liposarcoma cellular myxoid liposarcoma NCIT:C4252 -MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round Cell Liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 -MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 +MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney Disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 +MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disorder kidney disorder Kidney Disorder NCIT:C3149 Kidney Disorder kidney disorder NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym renal disease renal disease Renal Disease NCIT:C3149 Kidney Disorder renal disease NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym renal disorder renal disorder Renal Disorder NCIT:C3149 Kidney Disorder renal disorder NCIT:C3149 @@ -9845,10 +9720,9 @@ MONDO:0005267 heart disorder oio:hasExactSynonym heart trouble heart trouble He MONDO:0005269 carotid artery disorder oio:hasExactSynonym carotid artery disorder carotid artery disorder Carotid Artery Disorder NCIT:C84476 Carotid Artery Disorder carotid artery disorder NCIT:C84476 MONDO:0005271 allergic disease oio:hasExactSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction allergic reaction NCIT:C114476 MONDO:0005271 allergic disease oio:hasExactSynonym allergy allergy Allergy NCIT:C114476 Allergic Reaction allergy NCIT:C114476 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym MDS-SLD NCIT:C82591 Myelodysplastic Syndrome, Not Otherwise Specified with Single Lineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-SLD NCIT:C82591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005275 lung disorder oio:hasExactSynonym disorder of lung disorder of lung Disorder of Lung NCIT:C3198 Lung Disorder disorder of lung NCIT:C3198 MONDO:0005275 lung disorder oio:hasExactSynonym lung disorder lung disorder Lung Disorder NCIT:C3198 Lung Disorder lung disorder NCIT:C3198 @@ -9859,7 +9733,6 @@ MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorder pulmonary di MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorders pulmonary disorders Pulmonary Disorders NCIT:C3198 Lung Disorder pulmonary disorders NCIT:C3198 MONDO:0005277 migraine disorder oio:hasExactSynonym migraine migraine Migraine NCIT:C89715 Migraine migraine NCIT:C89715 MONDO:0005277 migraine disorder oio:hasExactSynonym migraine headache migraine headache Migraine Headache NCIT:C89715 Migraine migraine headache NCIT:C89715 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma serous adenocarcinoma NCIT:C3778 MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma serous adenocarcinoma NCIT:C40101 MONDO:0005279 pulmonary embolism oio:hasExactSynonym pulmonary embolism pulmonary embolism Pulmonary Embolism NCIT:C50713 Pulmonary Embolism pulmonary embolism NCIT:C50713 MONDO:0005280 prostatitis oio:hasExactSynonym prostatitis prostatitis Prostatitis NCIT:C26866 Prostatitis prostatitis NCIT:C26866 @@ -9899,20 +9772,17 @@ MONDO:0005300 chronic kidney disease oio:hasExactSynonym CKD - chronic kidney d MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic Kidney Disease NCIT:C80078 Chronic Kidney Disease chronic kidney disease NCIT:C80078 MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic kidney disease NCIT:C80078 Chronic Kidney Disease chronic kidney disease NCIT:C80078 MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease chronic renal disease NCIT:C80078 -MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure chronic renal disease NCIT:C9438 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit disorder attention deficit disorder Attention Deficit Disorder NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit disorder NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, inattentive/distractible type attention deficit hyperactivity disorder, inattentive/distractible type Attention Deficit Hyperactivity Disorder, Inattentive/Distractible Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit hyperactivity disorder, inattentive/distractible type NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, predominantly inattentive type attention deficit hyperactivity disorder, predominantly inattentive type Attention Deficit Hyperactivity Disorder, Predominantly Inattentive Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit hyperactivity disorder, predominantly inattentive type NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADD NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADD NCIT:C35092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005303 drug dependence oio:hasExactSynonym chemical dependence chemical dependence Chemical Dependence NCIT:C3894 Drug Dependence chemical dependence NCIT:C3894 MONDO:0005310 atrial flutter oio:hasExactSynonym atrial flutter atrial flutter Atrial Flutter NCIT:C51224 Atrial Flutter atrial flutter NCIT:C51224 MONDO:0005311 atherosclerosis oio:hasExactSynonym atherosclerotic cardiovascular disease atherosclerotic cardiovascular disease Atherosclerotic Cardiovascular Disease NCIT:C35771 Atherosclerotic Cardiovascular Disease atherosclerotic cardiovascular disease NCIT:C35771 -MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing Enterocolitis NCIT:C84915 Necrotizing Enterocolitis necrotizing enterocolitis NCIT:C84915 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture fracture NCIT:C3046 MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture Fracture NCIT:C3046 Fracture fracture NCIT:C3046 +MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture fracture NCIT:C3046 MONDO:0005315 bone fracture oio:hasExactSynonym fracture of bone fracture of bone Fracture of Bone NCIT:C3046 Fracture fracture of bone NCIT:C3046 MONDO:0005318 canker sore oio:hasExactSynonym aphthous ulcer aphthous ulcer Aphthous Ulcer NCIT:C62546 Canker Sore aphthous ulcer NCIT:C62546 MONDO:0005318 canker sore oio:hasExactSynonym canker sore canker sore Canker Sore NCIT:C62546 Canker Sore canker sore NCIT:C62546 @@ -9935,8 +9805,8 @@ MONDO:0005335 colorectal neoplasm oio:hasExactSynonym tumor of the large bowel MONDO:0005338 open-angle glaucoma oio:hasExactSynonym open angle glaucoma open angle glaucoma Open Angle Glaucoma NCIT:C34641 Open Angle Glaucoma open angle glaucoma NCIT:C34641 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of skin basal cell carcinoma of skin Basal Cell Carcinoma of Skin NCIT:C2921 Skin Basal Cell Carcinoma basal cell carcinoma of skin NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of the skin basal cell carcinoma of the skin Basal Cell Carcinoma of the Skin NCIT:C2921 Skin Basal Cell Carcinoma basal cell carcinoma of the skin NCIT:C2921 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal Cell Epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 +MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell skin carcinoma basal cell skin carcinoma Basal Cell Skin Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma basal cell skin carcinoma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell cancer skin basal cell cancer Skin Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma skin basal cell cancer NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell carcinoma skin basal cell carcinoma Skin Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma skin basal cell carcinoma NCIT:C2921 @@ -9948,8 +9818,8 @@ MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B NCI MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B infection Hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection Hepatitis B infection NCIT:C3097 MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym hepatitis B infection hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection hepatitis B infection NCIT:C3097 MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym viral Hepatitis B viral Hepatitis B Viral Hepatitis B NCIT:C3097 Hepatitis B Infection viral Hepatitis B NCIT:C3097 -MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias hypospadias NCIT:C40341 MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias NCIT:C40341 Hypospadias hypospadias NCIT:C40341 +MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias hypospadias NCIT:C40341 MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis NCIT:C185242 Otosclerosis otosclerosis NCIT:C185242 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym Creutzfeldt-Jacob disease Creutzfeldt-Jacob disease Creutzfeldt-Jacob Disease NCIT:C26802 Creutzfeldt-Jakob Disease Creutzfeldt-Jacob disease NCIT:C26802 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym classic Creutzfeldt-Jakob disease classic Creutzfeldt-Jakob disease Classic Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease classic Creutzfeldt-Jakob disease NCIT:C26802 @@ -10023,8 +9893,8 @@ MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynon MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic malignant neoplasm to the lymph nodes metastatic malignant neoplasm to the lymph nodes Metastatic Malignant Neoplasm to the Lymph Nodes NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic malignant neoplasm to the lymph nodes NCIT:C4904 MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic neoplasm to the lymph node metastatic neoplasm to the lymph node Metastatic Neoplasm to the Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic neoplasm to the lymph node NCIT:C4904 MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic tumor to lymph node metastatic tumor to lymph node Metastatic Tumor to Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic tumor to lymph node NCIT:C4904 -MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant Carcinoma, Embryonal, Malignant NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 +MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 MONDO:0005440 embryonal carcinoma oio:hasExactSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma embryonal carcinoma NCIT:C3752 MONDO:0005441 otitis media oio:hasExactSynonym medial otitis medial otitis Medial Otitis NCIT:C34885 Otitis Media medial otitis NCIT:C34885 MONDO:0005441 otitis media oio:hasExactSynonym middle Ear Inflammation middle Ear Inflammation Middle Ear Inflammation NCIT:C34885 Otitis Media middle Ear Inflammation NCIT:C34885 @@ -10040,8 +9910,6 @@ MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of testis m MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of the testis malignant tumor of the testis Malignant Tumor of the Testis NCIT:C7251 Malignant Testicular Neoplasm malignant tumor of the testis NCIT:C7251 MONDO:0005451 eating disorder oio:hasExactSynonym eating disorder eating disorder Eating Disorder NCIT:C89332 Eating Disorder eating disorder NCIT:C89332 MONDO:0005452 bulimia nervosa oio:hasExactSynonym bulimia bulimia Bulimia NCIT:C34440 Bulimia Nervosa bulimia NCIT:C34440 -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung NET lung NET Lung NET NCIT:C4038 Lung Neuroendocrine Tumor lung NET NCIT:C4038 -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine tumor lung neuroendocrine tumor Lung Neuroendocrine Tumor NCIT:C4038 Lung Neuroendocrine Tumor lung neuroendocrine tumor NCIT:C4038 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine neoplasm lung neuroendocrine neoplasm Lung Neuroendocrine Neoplasm NCIT:C5670 Lung Neuroendocrine Neoplasm lung neuroendocrine neoplasm NCIT:C5670 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of lung neuroendocrine neoplasm of lung Neuroendocrine Neoplasm of Lung NCIT:C5670 Lung Neuroendocrine Neoplasm neuroendocrine neoplasm of lung NCIT:C5670 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of the lung neuroendocrine neoplasm of the lung Neuroendocrine Neoplasm of the Lung NCIT:C5670 Lung Neuroendocrine Neoplasm neuroendocrine neoplasm of the lung NCIT:C5670 @@ -10053,8 +9921,8 @@ MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 Virus infection H1N1 Vir MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 flu H1N1 flu H1N1 Flu NCIT:C80444 H1N1 Influenza H1N1 flu NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) NCIT:C80444 H1N1 Influenza Influenza A (H1N1) NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus Infection NCIT:C80444 H1N1 Influenza Influenza A (H1N1) Virus infection NCIT:C80444 -MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 +MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of endometrium adenocarcinoma of endometrium Adenocarcinoma of Endometrium NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma of endometrium NCIT:C7359 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of the endometrium adenocarcinoma of the endometrium Adenocarcinoma of the Endometrium NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma of the endometrium NCIT:C7359 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma, endometrial, malignant adenocarcinoma, endometrial, malignant ADENOCARCINOMA, ENDOMETRIAL, MALIGNANT NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma, endometrial, malignant NCIT:C7359 @@ -10120,7 +9988,6 @@ MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced ma MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced malignant mesothelioma of the peritoneum advanced malignant mesothelioma of the peritoneum Advanced Malignant Mesothelioma of the Peritoneum NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma advanced malignant mesothelioma of the peritoneum NCIT:C8704 MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced peritoneal malignant mesothelioma advanced peritoneal malignant mesothelioma Advanced Peritoneal Malignant Mesothelioma NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma advanced peritoneal malignant mesothelioma NCIT:C8704 MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym malignant peritoneal mesothelioma, advanced malignant peritoneal mesothelioma, advanced Malignant Peritoneal Mesothelioma, Advanced NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma malignant peritoneal mesothelioma, advanced NCIT:C8704 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma oral cavity cancer NCIT:C8990 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth neoplasm malignant mouth neoplasm Malignant Mouth Neoplasm NCIT:C9314 Malignant Oral Cavity Neoplasm malignant mouth neoplasm NCIT:C9314 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth tumor malignant mouth tumor Malignant Mouth Tumor NCIT:C9314 Malignant Oral Cavity Neoplasm malignant mouth tumor NCIT:C9314 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant neoplasm of mouth malignant neoplasm of mouth Malignant Neoplasm of Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm malignant neoplasm of mouth NCIT:C9314 @@ -10131,15 +9998,12 @@ MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of mouth m MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of the mouth malignant tumor of the mouth Malignant Tumor of the Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm malignant tumor of the mouth NCIT:C9314 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym congenital skeletal dysplasia congenital skeletal dysplasia Congenital Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia congenital skeletal dysplasia NCIT:C84978 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym osteochondrodysplasia osteochondrodysplasia Osteochondrodysplasia NCIT:C84978 Osteochondrodysplasia osteochondrodysplasia NCIT:C84978 -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharyngeal neoplasm pharyngeal neoplasm Pharyngeal Neoplasm NCIT:C3325 Pharyngeal Neoplasm pharyngeal neoplasm NCIT:C3325 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal neoplasm malignant pharyngeal neoplasm Malignant Pharyngeal Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharyngeal neoplasm NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal tumor malignant pharyngeal tumor Malignant Pharyngeal Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharyngeal tumor NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx neoplasm malignant pharynx neoplasm Malignant Pharynx Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharynx neoplasm NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx tumor malignant pharynx tumor Malignant Pharynx Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharynx tumor NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of pharynx malignant tumor of pharynx Malignant Tumor of Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm malignant tumor of pharynx NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of the pharynx malignant tumor of the pharynx Malignant Tumor of the Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm malignant tumor of the pharynx NCIT:C7545 -MONDO:0005517 pharynx cancer oio:hasExactSynonym cancer of pharynx cancer of pharynx Cancer of Pharynx NCIT:C9466 Pharyngeal Carcinoma cancer of pharynx NCIT:C9466 -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharynx cancer pharynx cancer Pharynx Cancer NCIT:C9466 Pharyngeal Carcinoma pharynx cancer NCIT:C9466 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of kidney pelvis carcinoma of kidney pelvis Carcinoma of Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of kidney pelvis NCIT:C6142 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of renal pelvis carcinoma of renal pelvis Carcinoma of Renal Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of renal pelvis NCIT:C6142 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of the kidney pelvis carcinoma of the kidney pelvis Carcinoma of the Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of the kidney pelvis NCIT:C6142 @@ -10165,19 +10029,17 @@ MONDO:0005541 spondylolysis oio:hasExactSynonym spondylolysis spondylolysis Spo MONDO:0005542 acute coronary syndrome oio:hasExactSynonym acute coronary syndrome acute coronary syndrome Acute Coronary Syndrome NCIT:C53652 Acute Coronary Syndrome acute coronary syndrome NCIT:C53652 MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia fibromyalgia Fibromyalgia NCIT:C87497 Fibromyalgia fibromyalgia NCIT:C87497 MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia syndrome fibromyalgia syndrome Fibromyalgia Syndrome NCIT:C87497 Fibromyalgia fibromyalgia syndrome NCIT:C87497 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma renal cell cancer NCIT:C6568 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney adenocarcinoma of kidney Adenocarcinoma of Kidney NCIT:C9385 Renal Cell Carcinoma adenocarcinoma of kidney NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney adenocarcinoma of the kidney Adenocarcinoma of the Kidney NCIT:C9385 Renal Cell Carcinoma adenocarcinoma of the kidney NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym carcinoma, renal cell, malignant carcinoma, renal cell, malignant CARCINOMA, RENAL CELL, MALIGNANT NCIT:C9385 Renal Cell Carcinoma carcinoma, renal cell, malignant NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym kidney adenocarcinoma kidney adenocarcinoma Kidney Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma kidney adenocarcinoma NCIT:C9385 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal cell adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 +MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma renal cell cancer NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell carcinoma, stage unspecified renal cell carcinoma, stage unspecified Renal Cell Carcinoma, Stage Unspecified NCIT:C9385 Renal Cell Carcinoma renal cell carcinoma, stage unspecified NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder infection NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infection infection INFECTION NCIT:C26726 Infectious Disorder infection NCIT:C26726 +MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder infection NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious infectious Infectious NCIT:C26726 Infectious Disorder infectious NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious disease infectious disease Infectious Disease NCIT:C26726 Infectious Disorder infectious disease NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious diseases and manifestations infectious diseases and manifestations Infectious Diseases and Manifestations NCIT:C26726 Infectious Disorder infectious diseases and manifestations NCIT:C26726 @@ -10195,15 +10057,14 @@ MONDO:0005559 neurodegenerative disease oio:hasExactSynonym central nervous sys MONDO:0005561 aortic disorder oio:hasExactSynonym aorta disease aorta disease Aorta Disease NCIT:C101253 Aorta Disease aorta disease NCIT:C101253 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and young adults with NUT rearrangement NCIT:C45716 NUT Carcinoma Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline Carcinoma of Children and Young Adults with NUT Rearrangement NCIT:C45716 NUT Carcinoma Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT Midline Carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NUT carcinoma NUT Carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym carcinoma with t(15;19)(q13;p13.1) translocation carcinoma with t(15;19)(q13;p13.1) translocation Carcinoma with t(15;19)(q13;p13.1) Translocation NCIT:C45716 NUT Carcinoma carcinoma with t(15;19)(q13;p13.1) translocation NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym nuclear protein in testis midline carcinoma nuclear protein in testis midline carcinoma Nuclear Protein in Testis Midline Carcinoma NCIT:C45716 NUT Carcinoma nuclear protein in testis midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NMC NCIT:C45716 NUT Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NMC NCIT:C45716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal neoplasm embryonal neoplasm Embryonal Neoplasm NCIT:C3264 Embryonal Neoplasm embryonal neoplasm NCIT:C3264 -MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal tumor embryonal tumor Embryonal Tumor NCIT:C5817 Intracranial Embryonal Tumor, Not Otherwise Specified embryonal tumor NCIT:C5817 MONDO:0005565 blastoma oio:hasExactSynonym blastoma blastoma Blastoma NCIT:C8997 Blastoma blastoma NCIT:C8997 MONDO:0005565 blastoma oio:hasExactSynonym embryoma embryoma Embryoma NCIT:C8997 Blastoma embryoma NCIT:C8997 MONDO:0005566 neonatal abstinence syndrome oio:hasExactSynonym neonatal narcotic withdrawal syndrome neonatal narcotic withdrawal syndrome Neonatal Narcotic Withdrawal Syndrome NCIT:C87101 Neonatal Abstinence Syndrome neonatal narcotic withdrawal syndrome NCIT:C87101 @@ -10217,10 +10078,6 @@ MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic and lymphocy MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic disorder hematologic disorder Hematologic Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder hematologic disorder NCIT:C26323 MONDO:0005570 hematologic disorder oio:hasExactSynonym hematological disorder hematological disorder Hematological Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder hematological disorder NCIT:C26323 MONDO:0005571 polycythemia oio:hasExactSynonym polycythemia polycythemia Polycythemia NCIT:C26863 Polycythemia polycythemia NCIT:C26863 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma cancer of large bowel NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma cancer of large intestine NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma cancer of the large bowel NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer colorectal cancer Colorectal Cancer NCIT:C2955 Colorectal Carcinoma colorectal cancer NCIT:C2955 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal neoplasm malignant colorectal neoplasm Malignant Colorectal Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm malignant colorectal neoplasm NCIT:C4978 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal tumor malignant colorectal tumor Malignant Colorectal Tumor NCIT:C4978 Malignant Colorectal Neoplasm malignant colorectal tumor NCIT:C4978 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant large bowel neoplasm malignant large bowel neoplasm Malignant Large Bowel Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm malignant large bowel neoplasm NCIT:C4978 @@ -10288,9 +10145,8 @@ MONDO:0005602 ovarian teratoma oio:hasExactSynonym ovarian teratoma ovarian ter MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of ovary teratoma of ovary Teratoma of Ovary NCIT:C8110 Ovarian Teratoma teratoma of ovary NCIT:C8110 MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of the ovary teratoma of the ovary Teratoma of the Ovary NCIT:C8110 Ovarian Teratoma teratoma of the ovary NCIT:C8110 MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional cell papilloma transitional cell papilloma Transitional Cell Papilloma NCIT:C4115 Transitional Cell Papilloma transitional cell papilloma NCIT:C4115 -MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 -MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C5473 Gastric Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C5473 +MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym carcinoma, tubular cell, malignant carcinoma, tubular cell, malignant CARCINOMA, TUBULAR CELL, MALIGNANT NCIT:C65192 Tubular Adenocarcinoma carcinoma, tubular cell, malignant NCIT:C65192 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C65192 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular Adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C65192 @@ -10321,7 +10177,6 @@ MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym anaplastic carcino MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated carcinoma, undifferentiated Carcinoma, Undifferentiated NCIT:C3692 Undifferentiated Carcinoma carcinoma, undifferentiated NCIT:C3692 MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated, malignant carcinoma, undifferentiated, malignant CARCINOMA, UNDIFFERENTIATED, MALIGNANT NCIT:C3692 Undifferentiated Carcinoma carcinoma, undifferentiated, malignant NCIT:C3692 MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated Carcinoma NCIT:C3692 Undifferentiated Carcinoma undifferentiated carcinoma NCIT:C3692 -MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated carcinoma NCIT:C5722 Pancreatic Undifferentiated Carcinoma undifferentiated carcinoma NCIT:C5722 MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder anxiety disorder Anxiety Disorder NCIT:C2878 Anxiety Disorder anxiety disorder NCIT:C2878 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever typhoid fever Typhoid Fever NCIT:C35089 Typhoid Fever typhoid fever NCIT:C35089 MONDO:0005626 epithelial neoplasm oio:hasExactSynonym epithelial neoplasm epithelial neoplasm Epithelial Neoplasm NCIT:C3709 Epithelial Neoplasm epithelial neoplasm NCIT:C3709 @@ -10345,12 +10200,12 @@ MONDO:0005628 male breast carcinoma oio:hasExactSynonym male breast carcinoma m MONDO:0005632 acute chest syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma adenomyoma Adenomyoma NCIT:C3726 Adenomyoma adenomyoma NCIT:C3726 MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma, benign adenomyoma, benign ADENOMYOMA, BENIGN NCIT:C3726 Adenomyoma adenomyoma, benign NCIT:C3726 -MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma Mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 +MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym Müllerian adenosarcoma Müllerian adenosarcoma Müllerian Adenosarcoma NCIT:C9474 Adenosarcoma Müllerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym adenosarcoma adenosarcoma Adenosarcoma NCIT:C9474 Adenosarcoma adenosarcoma NCIT:C9474 -MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 +MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 MONDO:0005638 agnosia oio:hasExactSynonym agnosia agnosia Agnosia NCIT:C84542 Agnosia agnosia NCIT:C84542 MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym Atopic conjunctivitis Atopic conjunctivitis Atopic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis Atopic conjunctivitis NCIT:C34506 MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym allergic conjunctivitis allergic conjunctivitis Allergic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis allergic conjunctivitis NCIT:C34506 @@ -10360,8 +10215,8 @@ MONDO:0005648 aortic valve insufficiency oio:hasExactSynonym aortic insufficien MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym Cervicocranial syndrome Cervicocranial syndrome Cervicocranial Syndrome NCIT:C34411 Cervicocranial Syndrome Cervicocranial syndrome NCIT:C34411 MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym posterior cervical sympathetic syndrome posterior cervical sympathetic syndrome Posterior Cervical Sympathetic Syndrome NCIT:C34411 Cervicocranial Syndrome posterior cervical sympathetic syndrome NCIT:C34411 MONDO:0005664 bartonellosis oio:hasExactSynonym Bartonella infection Bartonella infection Bartonella Infection NCIT:C84586 Bartonella Infection Bartonella infection NCIT:C84586 -MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial nerve palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 +MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve paralysis facial nerve paralysis Facial Nerve Paralysis NCIT:C26769 Cranial Nerve VII Palsy facial nerve paralysis NCIT:C26769 MONDO:0005668 bird fancier's lung oio:hasExactSynonym Avian hypersensitivity pneumonitis Avian hypersensitivity pneumonitis Avian Hypersensitivity Pneumonitis NCIT:C34425 Bird Fancier's Lung Avian hypersensitivity pneumonitis NCIT:C34425 MONDO:0005668 bird fancier's lung oio:hasExactSynonym bird fancier's lung bird fancier's lung Bird Fancier's Lung NCIT:C34425 Bird Fancier's Lung bird fancier's lung NCIT:C34425 @@ -10406,18 +10261,16 @@ MONDO:0005731 dipetalonemiasis oio:hasExactSynonym Dipetalonema infections Dipe MONDO:0005731 dipetalonemiasis oio:hasExactSynonym dipetalonemiasis dipetalonemiasis Dipetalonemiasis NCIT:C34540 Dipetalonemiasis dipetalonemiasis NCIT:C34540 MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym Ebola NCIT:C36171 Ebola Hemorrhagic Fever Ebola NCIT:C36171 MONDO:0005738 echinococcosis oio:hasExactSynonym echinococcosis echinococcosis Echinococcosis NCIT:C84682 Echinococcosis echinococcosis NCIT:C84682 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor yolk Sac tumor NCIT:C27241 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor yolk sac tumor NCIT:C27241 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus neoplasm endodermal sinus neoplasm Endodermal Sinus Neoplasm NCIT:C3011 Yolk Sac Tumor endodermal sinus neoplasm NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor endodermal sinus tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor endodermal sinus tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk SAC tumor, malignant yolk SAC tumor, malignant YOLK SAC TUMOR, MALIGNANT NCIT:C3011 Yolk Sac Tumor yolk SAC tumor, malignant NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac neoplasm yolk Sac neoplasm Yolk Sac Neoplasm NCIT:C3011 Yolk Sac Tumor yolk Sac neoplasm NCIT:C3011 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor site unspecified yolk Sac tumor site unspecified Yolk Sac Tumor Site Unspecified NCIT:C3011 Yolk Sac Tumor yolk Sac tumor site unspecified NCIT:C3011 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumour site unspecified yolk Sac tumour site unspecified Yolk Sac Tumour Site Unspecified NCIT:C3011 Yolk Sac Tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour site unspecified NCIT:C3011 MONDO:0005746 enterobiasis oio:hasExactSynonym threadworm infection threadworm infection Threadworm Infection NCIT:C128396 Enterobiasis threadworm infection NCIT:C128396 MONDO:0005749 eosinophilic pneumonia oio:hasExactSynonym eosinophilic pneumonia eosinophilic pneumonia Eosinophilic Pneumonia NCIT:C35150 Eosinophilic Pneumonia eosinophilic pneumonia NCIT:C35150 @@ -10426,11 +10279,11 @@ MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynony MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynonym tonic-clonic epilepsy tonic-clonic epilepsy Tonic-Clonic Epilepsy NCIT:C3022 Tonic-Clonic Epilepsy tonic-clonic epilepsy NCIT:C3022 MONDO:0005756 ethmoid sinusitis oio:hasExactSynonym ethmoidal sinusitis ethmoidal sinusitis Ethmoidal Sinusitis NCIT:C34597 Ethmoidal Sinusitis ethmoidal sinusitis NCIT:C34597 MONDO:0005758 eunuchism oio:hasExactSynonym Primary testicular failure Primary testicular failure Primary Testicular Failure NCIT:C131195 Primary Testicular Failure Primary testicular failure NCIT:C131195 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma/tumor follicular Dendritic cell sarcoma/tumor Follicular Dendritic Cell Sarcoma/Tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma/tumor NCIT:C9281 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumor follicular dendritic cell tumor Follicular dendritic cell tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell tumor NCIT:C9281 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym Herpes Zoster Oticus NCIT:C84763 Herpes Zoster Oticus Herpes Zoster Oticus NCIT:C84763 MONDO:0005771 geographic tongue oio:hasExactSynonym benign migratory glossitis benign migratory glossitis Benign Migratory Glossitis NCIT:C84588 Benign Migratory Glossitis benign migratory glossitis NCIT:C84588 @@ -10458,14 +10311,13 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypo MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of the hypopharynx malignant neoplasm of the hypopharynx Malignant Neoplasm of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant neoplasm of the hypopharynx NCIT:C7190 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx malignant tumor of hypopharynx Malignant Tumor of Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant tumor of hypopharynx NCIT:C7190 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of the hypopharynx malignant tumor of the hypopharynx Malignant Tumor of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant tumor of the hypopharynx NCIT:C7190 -MONDO:0005806 hypopharynx cancer oio:hasExactSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma hypopharyngeal cancer NCIT:C9465 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis Chlamydial conjunctivitis Chlamydial Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis Chlamydial conjunctivitis NCIT:C116817 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma NCIT:C116817 Neonatal Chlamydia Conjunctivitis Trachoma NCIT:C116817 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym neonatal Chlamydia conjunctivitis neonatal Chlamydia conjunctivitis Neonatal Chlamydia Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis neonatal Chlamydia conjunctivitis NCIT:C116817 MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Mono NCIT:C34726 Infectious Mononucleosis Mono NCIT:C34726 MONDO:0005812 influenza oio:hasExactSynonym flu flu Flu NCIT:C53482 Influenza flu NCIT:C53482 -MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating dendritic cell sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 +MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma/tumor interdigitating Dendritic cell sarcoma/tumor Interdigitating Dendritic Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma/tumor NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma/tumor interdigitating cell sarcoma/tumor Interdigitating Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating cell sarcoma/tumor NCIT:C9282 MONDO:0005814 intestinal cancer oio:hasExactSynonym bowel cancer bowel cancer Bowel Cancer NCIT:C4572 Malignant Intestinal Neoplasm bowel cancer NCIT:C4572 @@ -10493,7 +10345,6 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym leptospirosis leptospirosis Lep MONDO:0005828 listeriosis oio:hasExactSynonym Listeria infection Listeria infection Listeria Infection NCIT:C82994 Listeriosis Listeria infection NCIT:C82994 MONDO:0005831 lymph node tuberculosis oio:hasExactSynonym lymph node tuberculosis lymph node tuberculosis Lymph Node Tuberculosis NCIT:C26896 Lymph Node Tuberculosis lymph node tuberculosis NCIT:C26896 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym swollen gland swollen gland Swollen Gland NCIT:C50764 Lymphadenopathy swollen gland NCIT:C50764 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym hereditary non-polyposis colon cancer type 1 hereditary non-polyposis colon cancer type 1 Hereditary Non-Polyposis Colon Cancer Type 1 NCIT:C6725 Lynch 1 Syndrome hereditary non-polyposis colon cancer type 1 NCIT:C6725 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary colorectal endometrial cancer syndrome Hereditary colorectal endometrial cancer syndrome Hereditary Colorectal Endometrial Cancer Syndrome NCIT:C8494 Lynch Syndrome Hereditary colorectal endometrial cancer syndrome NCIT:C8494 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 @@ -10563,8 +10414,8 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym carcinoma, isl MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high grade pancreatic neuroendocrine carcinoma high grade pancreatic neuroendocrine carcinoma High Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma high grade pancreatic neuroendocrine carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high-grade pancreatic neuroendocrine carcinoma high-grade pancreatic neuroendocrine carcinoma High-Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma high-grade pancreatic neuroendocrine carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell cancer islet cell cancer Islet Cell Cancer NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell cancer NCIT:C3770 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet cell carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 +MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma malignant islet cell tumor NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma malignant pancreatic endocrine tumor NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic NEC pancreatic NEC Pancreatic NEC NCIT:C3770 Pancreatic Neuroendocrine Carcinoma pancreatic NEC NCIT:C3770 @@ -10594,18 +10445,18 @@ MONDO:0005933 pulmonary blastoma oio:hasExactSynonym Pneumoblastoma NCIT:C373 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of lung blastoma of lung Blastoma of Lung NCIT:C3732 Pulmonary Blastoma blastoma of lung NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of the lung blastoma of the lung Blastoma of the Lung NCIT:C3732 Pulmonary Blastoma blastoma of the lung NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym lung blastoma lung blastoma Lung Blastoma NCIT:C3732 Pulmonary Blastoma lung blastoma NCIT:C3732 -MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary Blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 +MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym malignant retroperitoneal neoplasm malignant retroperitoneal neoplasm Malignant Retroperitoneal Neoplasm NCIT:C3537 Malignant Retroperitoneal Neoplasm malignant retroperitoneal neoplasm NCIT:C3537 MONDO:0005942 Reye syndrome oio:hasExactSynonym Reye's syndrome Reye's syndrome Reye's Syndrome NCIT:C34983 Reye Syndrome Reye's syndrome NCIT:C34983 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, MALIGNANT NCIT:C2928 Scirrhous Adenocarcinoma FIBROADENOCARCINOMA, malignant NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma With Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym fibrocarcinoma fibrocarcinoma Fibrocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma fibrocarcinoma NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous Adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous Carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 MONDO:0005960 silicosis oio:hasExactSynonym silicosis silicosis Silicosis NCIT:C3369 Silicosis silicosis NCIT:C3369 MONDO:0005964 sphenoid sinusitis oio:hasExactSynonym sphenoidal sinusitis sphenoidal sinusitis Sphenoidal Sinusitis NCIT:C35031 Sphenoidal Sinusitis sphenoidal sinusitis NCIT:C35031 MONDO:0005966 spleen cancer oio:hasExactSynonym cancer of the spleen cancer of the spleen Cancer of the Spleen NCIT:C3539 Malignant Splenic Neoplasm cancer of the spleen NCIT:C3539 @@ -10630,14 +10481,14 @@ MONDO:0006003 uterine corpus cancer oio:hasExactSynonym cancer of the corpus ut MONDO:0006003 uterine corpus cancer oio:hasExactSynonym corpus uteri cancer corpus uteri cancer Corpus Uteri Cancer NCIT:C61574 Uterine Corpus Cancer corpus uteri cancer NCIT:C61574 MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine (including endometrial) cancer uterine (including endometrial) cancer Uterine (Including Endometrial) Cancer NCIT:C61574 Uterine Corpus Cancer uterine (including endometrial) cancer NCIT:C61574 MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine corpus cancer uterine corpus cancer Uterine Corpus Cancer NCIT:C61574 Uterine Corpus Cancer uterine corpus cancer NCIT:C61574 -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous Epidermoid Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous epidermoid carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid cell carcinoma verrucous epidermoid cell carcinoma Verrucous Epidermoid Cell Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid cell carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous carcinoma verrucous squamous carcinoma Verrucous Squamous Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous carcinoma NCIT:C3781 -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous Squamous Cell Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 MONDO:0006009 viral encephalitis oio:hasExactSynonym viral encephalitis viral encephalitis Viral Encephalitis NCIT:C35302 Viral Encephalitis viral encephalitis NCIT:C35302 MONDO:0006011 viral hepatitis oio:hasExactSynonym viral Hepatitis viral Hepatitis Viral Hepatitis NCIT:C35124 Viral Hepatitis viral Hepatitis NCIT:C35124 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vaginal candidiasis vaginal candidiasis Vaginal Candidiasis NCIT:C2914 Vulvovaginal Candidiasis vaginal candidiasis NCIT:C2914 @@ -10710,7 +10561,6 @@ MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous carci MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma squamous cell breast carcinoma Squamous Cell Breast Carcinoma NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell breast carcinoma NCIT:C5177 MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of breast squamous cell carcinoma of breast Squamous Cell Carcinoma of Breast NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell carcinoma of breast NCIT:C5177 MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of the breast squamous cell carcinoma of the breast Squamous Cell Carcinoma of the Breast NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell carcinoma of the breast NCIT:C5177 -MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor Wilms tumor NCIT:C27730 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor Wilms tumor NCIT:C3267 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor NCIT:C3267 Wilms Tumor Wilms tumor NCIT:C3267 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor Wilms' tumor NCIT:C3267 @@ -10802,17 +10652,15 @@ MONDO:0006071 adenofibroma oio:hasExactSynonym adenofibroma, benign adenofibrom MONDO:0006071 adenofibroma oio:hasExactSynonym benign mixed Muellerian tumor benign mixed Muellerian tumor Benign Mixed Muellerian Tumor NCIT:C8984 Female Reproductive System Adenofibroma benign mixed Muellerian tumor NCIT:C8984 MONDO:0006071 adenofibroma oio:hasExactSynonym female reproductive system adenofibroma female reproductive system adenofibroma Female Reproductive System Adenofibroma NCIT:C8984 Female Reproductive System Adenofibroma female reproductive system adenofibroma NCIT:C8984 MONDO:0006073 adenomatoid odontogenic tumor oio:hasExactSynonym adenomatoid odontogenic neoplasm adenomatoid odontogenic neoplasm Adenomatoid Odontogenic Neoplasm NCIT:C4310 Adenomatoid Odontogenic Tumor adenomatoid odontogenic neoplasm NCIT:C4310 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym carcinoma, adenosquamous, malignant carcinoma, adenosquamous, malignant CARCINOMA, ADENOSQUAMOUS, MALIGNANT NCIT:C3727 Adenosquamous Carcinoma carcinoma, adenosquamous, malignant NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid cell carcinoma mixed adenocarcinoma and epidermoid cell carcinoma Mixed Adenocarcinoma and Epidermoid Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid cell carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous carcinoma mixed adenocarcinoma and squamous carcinoma Mixed Adenocarcinoma and Squamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous carcinoma NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed Adenocarcinoma and Squamous Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C4519 Cervical Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C4519 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C5721 Pancreatic Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C5721 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym MYELOLIPOMA, benign MYELOLIPOMA, benign MYELOLIPOMA, BENIGN NCIT:C3736 Adrenal Gland Myelolipoma MYELOLIPOMA, benign NCIT:C3736 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma Myelolipoma NCIT:C3736 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym adrenal gland myelolipoma adrenal gland myelolipoma Adrenal Gland Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma adrenal gland myelolipoma NCIT:C3736 @@ -10829,8 +10677,8 @@ MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactS MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of primary central nervous system AIDS-related lymphoma of primary central nervous system AIDS-Related Lymphoma of Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related lymphoma of primary central nervous system NCIT:C8284 MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of the primary central nervous system AIDS-related lymphoma of the primary central nervous system AIDS-Related Lymphoma of the Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related lymphoma of the primary central nervous system NCIT:C8284 MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related primary CNS lymphoma AIDS-related primary CNS lymphoma AIDS-Related Primary CNS Lymphoma NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related primary CNS lymphoma NCIT:C8284 -MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 +MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym odontoma, ameloblastic, malignant odontoma, ameloblastic, malignant ODONTOMA, AMELOBLASTIC, MALIGNANT NCIT:C7492 Ameloblastic Carcinoma odontoma, ameloblastic, malignant NCIT:C7492 MONDO:0006081 anal melanoma oio:hasExactSynonym anal malignant melanoma anal malignant melanoma Anal Malignant Melanoma NCIT:C4639 Anal Melanoma anal malignant melanoma NCIT:C4639 MONDO:0006081 anal melanoma oio:hasExactSynonym anal melanoma anal melanoma Anal Melanoma NCIT:C4639 Anal Melanoma anal melanoma NCIT:C4639 @@ -10876,8 +10724,8 @@ MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of breast atypical lobular hyperplasia of breast Atypical Lobular Hyperplasia of Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia atypical lobular hyperplasia of breast NCIT:C4730 MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of the breast atypical lobular hyperplasia of the breast Atypical Lobular Hyperplasia of the Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia atypical lobular hyperplasia of the breast NCIT:C4730 MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym ALH NCIT:C4730 Breast Atypical Lobular Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALH NCIT:C4730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 +MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym benign adrenal gland pheochromocytoma benign adrenal gland pheochromocytoma Benign Adrenal Gland Pheochromocytoma NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma benign adrenal gland pheochromocytoma NCIT:C48305 MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, benign pheochromocytoma, benign PHEOCHROMOCYTOMA, BENIGN NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, benign NCIT:C48305 MONDO:0006104 benign carotid body paraganglioma oio:hasExactSynonym benign carotid body paraganglioma benign carotid body paraganglioma Benign Carotid Body Paraganglioma NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma benign carotid body paraganglioma NCIT:C79950 @@ -11070,8 +10918,8 @@ MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cel MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of uterine cervix squamous cell carcinoma of uterine cervix Squamous Cell Carcinoma of Uterine Cervix NCIT:C4028 Cervical Squamous Cell Carcinoma squamous cell carcinoma of uterine cervix NCIT:C4028 MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym uterine cervix squamous cell carcinoma uterine cervix squamous cell carcinoma Uterine Cervix Squamous Cell Carcinoma NCIT:C4028 Cervical Squamous Cell Carcinoma uterine cervix squamous cell carcinoma NCIT:C4028 MONDO:0006144 cervical Wilms tumor oio:hasExactSynonym cervical Wilms tumor cervical Wilms tumor Cervical Wilms Tumor NCIT:C40236 Cervical Wilms Tumor cervical Wilms tumor NCIT:C40236 -MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid Chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 +MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 MONDO:0006149 clear cell papillary cystadenoma oio:hasExactSynonym clear cell papillary cystadenoma clear cell papillary cystadenoma Clear Cell Papillary Cystadenoma NCIT:C65203 Clear Cell Papillary Cystadenoma clear cell papillary cystadenoma NCIT:C65203 MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt lymphoma colon Burkitt lymphoma Colon Burkitt Lymphoma NCIT:C27465 Colon Burkitt Lymphoma colon Burkitt lymphoma NCIT:C27465 MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt's lymphoma colon Burkitt's lymphoma Colon Burkitt's Lymphoma NCIT:C27465 Colon Burkitt Lymphoma colon Burkitt's lymphoma NCIT:C27465 @@ -11221,8 +11069,8 @@ MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym endom MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid adenocarcinoma uterine corpus endometrioid adenocarcinoma Uterine Corpus Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma uterine corpus endometrioid adenocarcinoma NCIT:C6287 MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid carcinoma uterine corpus endometrioid carcinoma Uterine Corpus Endometrioid Carcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma uterine corpus endometrioid carcinoma NCIT:C6287 MONDO:0006193 endometrial hyperplasia without atypia oio:hasExactSynonym typical endometrial hyperplasia typical endometrial hyperplasia Typical Endometrial Hyperplasia NCIT:C40157 Endometrial Hyperplasia without Atypia typical endometrial hyperplasia NCIT:C40157 -MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial Polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 +MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial stromal polyp endometrial stromal polyp Endometrial Stromal Polyp NCIT:C6433 Endometrial Polyp endometrial stromal polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp polyp of endometrium NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of the endometrium polyp of the endometrium Polyp of the Endometrium NCIT:C6433 Endometrial Polyp polyp of the endometrium NCIT:C6433 @@ -11371,8 +11219,8 @@ MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell myoblastoma MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell nerve sheath tumor granular cell nerve sheath tumor Granular Cell Nerve Sheath Tumor NCIT:C3474 Granular Cell Tumor granular cell nerve sheath tumor NCIT:C3474 MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell schwannoma granular cell schwannoma Granular Cell Schwannoma NCIT:C3474 Granular Cell Tumor granular cell schwannoma NCIT:C3474 MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell tumor granular cell tumor Granular Cell Tumor NCIT:C3474 Granular Cell Tumor granular cell tumor NCIT:C3474 -MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 +MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym sarcoma, granulocytic, malignant sarcoma, granulocytic, malignant SARCOMA, GRANULOCYTIC, MALIGNANT NCIT:C35815 Granulocytic Sarcoma sarcoma, granulocytic, malignant NCIT:C35815 MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym Somatotrophinoma NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor Somatotrophinoma NCIT:C7461 MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym growth hormone producing adenoma of pituitary gland growth hormone producing adenoma of pituitary gland Growth Hormone Producing Adenoma of Pituitary Gland NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor growth hormone producing adenoma of pituitary gland NCIT:C7461 @@ -11387,10 +11235,10 @@ MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynon MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym head and neck paraganglioma head and neck paraganglioma Head and Neck Paraganglioma NCIT:C5327 Head and Neck Paraganglioma head and neck paraganglioma NCIT:C5327 MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of head and neck paraganglioma of head and neck Paraganglioma of Head and Neck NCIT:C5327 Head and Neck Paraganglioma paraganglioma of head and neck NCIT:C5327 MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of the head and neck paraganglioma of the head and neck Paraganglioma of the Head and Neck NCIT:C5327 Head and Neck Paraganglioma paraganglioma of the head and neck NCIT:C5327 -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma ERBB2 Overexpressing subtype of breast carcinoma NCIT:C53556 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing breast carcinoma HER2 Overexpressing breast carcinoma HER2 Overexpressing Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 Overexpressing breast carcinoma NCIT:C53556 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 Overexpressing subtype of breast carcinoma NCIT:C53556 @@ -11398,8 +11246,8 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Positive MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 positive breast carcinoma HER2 positive breast carcinoma HER2 Positive Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 positive breast carcinoma NCIT:C53556 MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym clear cell eccrine carcinoma clear cell eccrine carcinoma Clear Cell Eccrine Carcinoma NCIT:C54664 Hidradenocarcinoma clear cell eccrine carcinoma NCIT:C54664 MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma hidradenocarcinoma NCIT:C54664 -MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High Grade Surface Osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 +MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell neoplasms histiocytic and Dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and Dendritic cell neoplasms NCIT:C9294 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell tumors histiocytic and Dendritic cell tumors Histiocytic and Dendritic Cell Tumors NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and Dendritic cell tumors NCIT:C9294 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and dendritic cell neoplasm histiocytic and dendritic cell neoplasm Histiocytic and Dendritic Cell Neoplasm NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and dendritic cell neoplasm NCIT:C9294 @@ -11413,8 +11261,8 @@ MONDO:0006249 hyperplastic polyp oio:hasExactSynonym MP NCIT:C4083 Hyperplast MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal NET G1 ileal NET G1 Ileal NET G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 ileal NET G1 NCIT:C4935 MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal neuroendocrine tumor G1 ileal neuroendocrine tumor G1 Ileal Neuroendocrine Tumor G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 ileal neuroendocrine tumor G1 NCIT:C4935 MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal type carcinoma intestinal type carcinoma Intestinal Type Carcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal type carcinoma NCIT:C4126 -MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-Type Adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 +MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating breast carcinoma infiltrating breast carcinoma Infiltrating Breast Carcinoma NCIT:C9245 Invasive Breast Carcinoma infiltrating breast carcinoma NCIT:C9245 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of breast infiltrating carcinoma of breast Infiltrating Carcinoma of Breast NCIT:C9245 Invasive Breast Carcinoma infiltrating carcinoma of breast NCIT:C9245 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of the breast infiltrating carcinoma of the breast Infiltrating Carcinoma of the Breast NCIT:C9245 Invasive Breast Carcinoma infiltrating carcinoma of the breast NCIT:C9245 @@ -11514,8 +11362,8 @@ MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing angioma MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of lung sclerosing hemangioma of lung Sclerosing Hemangioma of Lung NCIT:C5656 Sclerosing Pneumocytoma sclerosing hemangioma of lung NCIT:C5656 MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of the lung sclerosing hemangioma of the lung Sclerosing Hemangioma of the Lung NCIT:C5656 Sclerosing Pneumocytoma sclerosing hemangioma of the lung NCIT:C5656 MONDO:0006281 lung signet ring cell carcinoma oio:hasExactSynonym lung signet ring cell carcinoma lung signet ring cell carcinoma Lung Signet Ring Cell Carcinoma NCIT:C45514 Lung Signet Ring Cell Carcinoma lung signet ring cell carcinoma NCIT:C45514 -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 +MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma lymphangiosarcoma Lymphangiosarcoma NCIT:C3205 Lymphangiosarcoma lymphangiosarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma, malignant lymphangiosarcoma, malignant LYMPHANGIOSARCOMA, MALIGNANT NCIT:C3205 Lymphangiosarcoma lymphangiosarcoma, malignant NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym malignant lymphangioendothelioma malignant lymphangioendothelioma Malignant Lymphangioendothelioma NCIT:C3205 Lymphangiosarcoma malignant lymphangioendothelioma NCIT:C3205 @@ -11533,8 +11381,8 @@ MONDO:0006286 major salivary gland mucoepidermoid carcinoma oio:hasExactSynonym MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym Dedifferentiated giant cell tumor Dedifferentiated giant cell tumor Dedifferentiated Giant Cell Tumor NCIT:C4304 Malignancy in Giant Cell Tumor of Bone Dedifferentiated giant cell tumor NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym OSTEOCLASTOMA, malignant OSTEOCLASTOMA, malignant OSTEOCLASTOMA, MALIGNANT NCIT:C4304 Malignancy in Giant Cell Tumor of Bone OSTEOCLASTOMA, malignant NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell bone sarcoma giant cell bone sarcoma Giant Cell Bone Sarcoma NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell bone sarcoma NCIT:C4304 -MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant cell sarcoma of bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 +MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of the bone giant cell sarcoma of the bone Giant Cell Sarcoma of the Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of the bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell tumor of bone, malignant giant cell tumor of bone, malignant Giant cell tumor of bone, malignant NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell tumor of bone, malignant NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym malignancy in giant cell tumor of bone malignancy in giant cell tumor of bone Malignancy in Giant Cell Tumor of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone malignancy in giant cell tumor of bone NCIT:C4304 @@ -11551,8 +11399,8 @@ MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym mali MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant adrenal pheochromocytoma malignant adrenal pheochromocytoma Malignant Adrenal Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma malignant adrenal pheochromocytoma NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant pheochromocytoma malignant pheochromocytoma Malignant Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma malignant pheochromocytoma NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromoblastoma pheochromoblastoma Pheochromoblastoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromoblastoma NCIT:C4220 -MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant Pheochromocytoma, malignant NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 +MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell neoplasm malignant germ cell neoplasm Malignant Germ Cell Neoplasm NCIT:C4925 Malignant Germ Cell Tumor malignant germ cell neoplasm NCIT:C4925 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell tumor malignant germ cell tumor Malignant Germ Cell Tumor NCIT:C4925 Malignant Germ Cell Tumor malignant germ cell tumor NCIT:C4925 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant neoplasm of germ cell malignant neoplasm of germ cell Malignant Neoplasm of Germ Cell NCIT:C4925 Malignant Germ Cell Tumor malignant neoplasm of germ cell NCIT:C4925 @@ -11571,8 +11419,8 @@ MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of the mesothelium malignant neoplasm of the mesothelium Malignant Neoplasm of the Mesothelium NCIT:C4456 Malignant Mesothelioma malignant neoplasm of the mesothelium NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of mesothelium malignant tumor of mesothelium Malignant Tumor of Mesothelium NCIT:C4456 Malignant Mesothelioma malignant tumor of mesothelium NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of the mesothelium malignant tumor of the mesothelium Malignant Tumor of the Mesothelium NCIT:C4456 Malignant Mesothelioma malignant tumor of the mesothelium NCIT:C4456 -MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant MESOTHELIOMA, MALIGNANT NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 +MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of pleura cancer of pleura Cancer of Pleura NCIT:C3547 Malignant Pleural Neoplasm cancer of pleura NCIT:C3547 MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of the pleura cancer of the pleura Cancer of the Pleura NCIT:C3547 Malignant Pleural Neoplasm cancer of the pleura NCIT:C3547 MONDO:0006294 pleural cancer oio:hasExactSynonym malignant neoplasm of pleura malignant neoplasm of pleura Malignant Neoplasm of Pleura NCIT:C3547 Malignant Pleural Neoplasm malignant neoplasm of pleura NCIT:C3547 @@ -11590,8 +11438,8 @@ MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym mediast MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym thymic malignant germ cell tumor thymic malignant germ cell tumor Thymic Malignant Germ Cell Tumor NCIT:C6446 Malignant Mediastinal Germ Cell Tumor thymic malignant germ cell tumor NCIT:C6446 MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma medullomyoblastoma Medullomyoblastoma NCIT:C3706 Medullomyoblastoma medullomyoblastoma NCIT:C3706 MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma with myogenic differentiation medullomyoblastoma with myogenic differentiation Medullomyoblastoma with Myogenic Differentiation NCIT:C3706 Medullomyoblastoma medullomyoblastoma with myogenic differentiation NCIT:C3706 -MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 +MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of middle Ear epidermoid carcinoma of middle Ear Epidermoid Carcinoma of Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of middle Ear NCIT:C6086 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle Ear epidermoid carcinoma of the middle Ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of the middle Ear NCIT:C6086 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle ear epidermoid carcinoma of the middle ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of the middle ear NCIT:C6086 @@ -11650,10 +11498,10 @@ MONDO:0006326 ocular melanoma with extraocular extension oio:hasExactSynonym oc MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym eye sebaceous carcinoma eye sebaceous carcinoma Eye Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma eye sebaceous carcinoma NCIT:C43340 MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym ocular sebaceous carcinoma ocular sebaceous carcinoma Ocular Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma ocular sebaceous carcinoma NCIT:C43340 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory esthesioneuroblastoma olfactory esthesioneuroblastoma Olfactory Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory esthesioneuroblastoma NCIT:C3789 -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoid neoplasm ossifying fibromyxoid neoplasm Ossifying Fibromyxoid Neoplasm NCIT:C6582 Ossifying Fibromyxoid Tumor ossifying fibromyxoid neoplasm NCIT:C6582 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoma ossifying fibromyxoma Ossifying Fibromyxoma NCIT:C6582 Ossifying Fibromyxoid Tumor ossifying fibromyxoma NCIT:C6582 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym OFMT NCIT:C6582 Ossifying Fibromyxoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFMT NCIT:C6582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11671,7 +11519,6 @@ MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation oio:hasExactSynonym ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma with squamous differentiation Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation NCIT:C40061 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation ovarian endometrioid adenocarcinoma with squamous differentiation NCIT:C40061 MONDO:0006337 ovarian endometriosis oio:hasExactSynonym ovarian endometriosis ovarian endometriosis Ovarian Endometriosis NCIT:C27628 Ovarian Endometriosis ovarian endometriosis NCIT:C27628 MONDO:0006340 ovarian serous adenofibroma oio:hasExactSynonym ovarian serous adenofibroma ovarian serous adenofibroma Ovarian Serous Adenofibroma NCIT:C40031 Ovarian Serous Adenofibroma ovarian serous adenofibroma NCIT:C40031 -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym malignant ovarian transitional cell neoplasm malignant ovarian transitional cell neoplasm Malignant Ovarian Transitional Cell Neoplasm NCIT:C4270 Malignant Ovarian Brenner Tumor malignant ovarian transitional cell neoplasm NCIT:C4270 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell cancer ovarian transitional cell cancer Ovarian Transitional Cell Cancer NCIT:C5240 Ovarian Transitional Cell Carcinoma ovarian transitional cell cancer NCIT:C5240 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell carcinoma ovarian transitional cell carcinoma Ovarian Transitional Cell Carcinoma NCIT:C5240 Ovarian Transitional Cell Carcinoma ovarian transitional cell carcinoma NCIT:C5240 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma of ovary transitional cell carcinoma of ovary Transitional Cell Carcinoma of Ovary NCIT:C5240 Ovarian Transitional Cell Carcinoma transitional cell carcinoma of ovary NCIT:C5240 @@ -11711,11 +11558,11 @@ MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell NEC G3 pancreatic small cell NEC G3 Pancreatic Small Cell NEC G3 NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma pancreatic small cell NEC G3 NCIT:C95583 MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell neuroendocrine carcinoma pancreatic small cell neuroendocrine carcinoma Pancreatic Small Cell Neuroendocrine Carcinoma NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma pancreatic small cell neuroendocrine carcinoma NCIT:C95583 MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic neoplasm papillary cystic neoplasm Papillary Cystic Neoplasm NCIT:C4179 Papillary Cystic Neoplasm papillary cystic neoplasm NCIT:C4179 -MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary Cystic Tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 +MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional carcinoma papillary transitional carcinoma Papillary Transitional Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional carcinoma NCIT:C4122 -MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary Transitional Cell Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 +MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 MONDO:0006351 parachordoma oio:hasExactSynonym parachordoma parachordoma Parachordoma NCIT:C6581 Parachordoma parachordoma NCIT:C6581 MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym accessory sinus adenoid cystic carcinoma accessory sinus adenoid cystic carcinoma Accessory Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma accessory sinus adenoid cystic carcinoma NCIT:C6019 MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma adenoid cystic carcinoma of accessory sinus NCIT:C6019 @@ -11769,8 +11616,8 @@ MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharyngea MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharynx adenoid cystic carcinoma pharynx adenoid cystic carcinoma Pharynx Adenoid Cystic Carcinoma NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma pharynx adenoid cystic carcinoma NCIT:C5818 MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor phosphaturic mesenchymal tumor Phosphaturic Mesenchymal Tumor NCIT:C67237 Phosphaturic Mesenchymal Tumor phosphaturic mesenchymal tumor NCIT:C67237 MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor, mixed connective tissue type phosphaturic mesenchymal tumor, mixed connective tissue type Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type NCIT:C67237 Phosphaturic Mesenchymal Tumor phosphaturic mesenchymal tumor, mixed connective tissue type NCIT:C67237 -MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumor of intermediate differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma pituicytoma Pituicytoma NCIT:C94524 Pituicytoma pituicytoma NCIT:C94524 MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma (WHO grade I) pituicytoma (WHO grade I) Pituicytoma (WHO Grade I) NCIT:C94524 Pituicytoma pituicytoma (WHO grade I) NCIT:C94524 MONDO:0006372 pituicytoma oio:hasExactSynonym posterior pituitary astrocytoma posterior pituitary astrocytoma Posterior Pituitary Astrocytoma NCIT:C94524 Pituicytoma posterior pituitary astrocytoma NCIT:C94524 @@ -11790,8 +11637,8 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym placental hemangioma pla MONDO:0006377 pleural biphasic mesothelioma oio:hasExactSynonym pleural biphasic mesothelioma pleural biphasic mesothelioma Pleural Biphasic Mesothelioma NCIT:C45665 Pleural Biphasic Mesothelioma pleural biphasic mesothelioma NCIT:C45665 MONDO:0006378 pleural epithelioid mesothelioma oio:hasExactSynonym pleural epithelioid mesothelioma pleural epithelioid mesothelioma Pleural Epithelioid Mesothelioma NCIT:C45662 Pleural Epithelioid Mesothelioma pleural epithelioid mesothelioma NCIT:C45662 MONDO:0006380 pleural sarcomatoid mesothelioma oio:hasExactSynonym pleural sarcomatoid mesothelioma pleural sarcomatoid mesothelioma Pleural Sarcomatoid Mesothelioma NCIT:C45663 Pleural Sarcomatoid Mesothelioma pleural sarcomatoid mesothelioma NCIT:C45663 -MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 +MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of the thyroid gland poorly differentiated carcinoma of the thyroid gland Poorly Differentiated Carcinoma of the Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated carcinoma of the thyroid gland NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of thyroid gland poorly differentiated carcinoma of thyroid gland Poorly Differentiated Carcinoma of Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated carcinoma of thyroid gland NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated thyroid carcinoma poorly differentiated thyroid carcinoma Poorly Differentiated Thyroid Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated thyroid carcinoma NCIT:C6040 @@ -11895,10 +11742,10 @@ MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cel MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cell undifferentiated salivary gland carcinoma large cell undifferentiated salivary gland carcinoma Large Cell Undifferentiated Salivary Gland Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma large cell undifferentiated salivary gland carcinoma NCIT:C35735 MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym salivary gland large cell carcinoma salivary gland large cell carcinoma Salivary Gland Large Cell Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma salivary gland large cell carcinoma NCIT:C35735 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym carcinoma, spindle cell, malignant carcinoma, spindle cell, malignant CARCINOMA, SPINDLE CELL, MALIGNANT NCIT:C27004 Sarcomatoid Carcinoma carcinoma, spindle cell, malignant NCIT:C27004 -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous Carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym spindle cell carcinoma spindle cell carcinoma Spindle Cell Carcinoma NCIT:C27004 Sarcomatoid Carcinoma spindle cell carcinoma NCIT:C27004 MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid Mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma sarcomatoid mesothelioma NCIT:C45655 MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma sarcomatoid mesothelioma NCIT:C45655 @@ -12004,8 +11851,8 @@ MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym fibroma of the tendon s MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym tendon sheath fibroma tendon sheath fibroma Tendon Sheath Fibroma NCIT:C6485 Tendon Sheath Fibroma tendon sheath fibroma NCIT:C6485 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid cyst with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy dermoid cyst with malignant transformation NCIT:C4289 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid Cyst with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy dermoid cyst with malignant transformation NCIT:C4289 -MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 +MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of testis embryonal carcinoma of testis Embryonal Carcinoma of Testis NCIT:C6341 Testicular Embryonal Carcinoma embryonal carcinoma of testis NCIT:C6341 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the testis embryonal carcinoma of the testis Embryonal Carcinoma of the Testis NCIT:C6341 Testicular Embryonal Carcinoma embryonal carcinoma of the testis NCIT:C6341 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym testicular embryonal carcinoma testicular embryonal carcinoma Testicular Embryonal Carcinoma NCIT:C6341 Testicular Embryonal Carcinoma testicular embryonal carcinoma NCIT:C6341 @@ -12034,8 +11881,8 @@ MONDO:0006458 thymoma type B3 oio:hasExactSynonym epithelial thymoma epithelial MONDO:0006458 thymoma type B3 oio:hasExactSynonym malignant thymoma type B3 malignant thymoma type B3 Malignant Thymoma Type B3 NCIT:C7997 Thymoma Type B3 malignant thymoma type B3 NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym squamoid thymoma squamoid thymoma Squamoid Thymoma NCIT:C7997 Thymoma Type B3 squamoid thymoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym thymoma type B3 thymoma type B3 Thymoma Type B3 NCIT:C7997 Thymoma Type B3 thymoma type B3 NCIT:C7997 -MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 +MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym well-differentiated thymic carcinoma well-differentiated thymic carcinoma Well-Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 well-differentiated thymic carcinoma NCIT:C7997 MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-predominant thymoma lymphocyte-predominant thymoma Lymphocyte-Predominant Thymoma NCIT:C6887 Thymoma Type B1 lymphocyte-predominant thymoma NCIT:C6887 MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-rich thymoma lymphocyte-rich thymoma Lymphocyte-Rich Thymoma NCIT:C6887 Thymoma Type B1 lymphocyte-rich thymoma NCIT:C6887 @@ -12078,8 +11925,8 @@ MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExact MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid carcinoma undifferentiated thyroid carcinoma Undifferentiated Thyroid Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid carcinoma NCIT:C3878 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid gland carcinoma undifferentiated thyroid gland carcinoma Undifferentiated Thyroid Gland Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid gland carcinoma NCIT:C3878 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid tumor undifferentiated thyroid tumor Undifferentiated Thyroid Tumor NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid tumor NCIT:C3878 -MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 +MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of the tonsil SCC of the tonsil SCC of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma SCC of the tonsil NCIT:C8183 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of tonsil SCC of tonsil SCC of Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma SCC of tonsil NCIT:C8183 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tonsil squamous cell carcinoma of the tonsil Squamous Cell Carcinoma of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma squamous cell carcinoma of the tonsil NCIT:C8183 @@ -12092,8 +11939,8 @@ MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym adenoid cys MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym trachea adenoid cystic carcinoma trachea adenoid cystic carcinoma Trachea Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma trachea adenoid cystic carcinoma NCIT:C6051 MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym tracheal adenoid cystic carcinoma tracheal adenoid cystic carcinoma Tracheal Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma tracheal adenoid cystic carcinoma NCIT:C6051 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym carcinoma, urothelial, malignant carcinoma, urothelial, malignant CARCINOMA, UROTHELIAL, MALIGNANT NCIT:C2930 Transitional Cell Carcinoma carcinoma, urothelial, malignant NCIT:C2930 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional Carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 +MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional Cell Carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional cell carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional cell carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional cell carcinoma NCIT:C2930 MONDO:0006476 undifferentiated gallbladder carcinoma oio:hasExactSynonym anaplastic carcinoma of gallbladder anaplastic carcinoma of gallbladder Anaplastic Carcinoma of Gallbladder NCIT:C9167 Gallbladder Undifferentiated Carcinoma anaplastic carcinoma of gallbladder NCIT:C9167 @@ -12163,16 +12010,16 @@ MONDO:0006489 vaginal melanoma oio:hasExactSynonym vaginal melanoma vaginal mel MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell carcinoma vaginal squamous cell carcinoma Vaginal Squamous Cell Carcinoma NCIT:C180915 Vaginal Squamous Cell Carcinoma vaginal squamous cell carcinoma NCIT:C180915 MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell cancer, NOS vaginal squamous cell cancer, NOS Vaginal Squamous Cell Cancer, NOS NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified vaginal squamous cell cancer, NOS NCIT:C7736 MONDO:0006491 vulvar lichen sclerosus oio:hasExactSynonym vulvar lichen sclerosus vulvar lichen sclerosus Vulvar Lichen Sclerosus NCIT:C27723 Vulvar Lichen Sclerosus vulvar lichen sclerosus NCIT:C27723 -MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor Warthin tumor Warthin Tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 +MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin's tumor Warthin's tumor Warthin's Tumor NCIT:C2854 Warthin Tumor Warthin's tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym adenolymphoma adenolymphoma Adenolymphoma NCIT:C2854 Warthin Tumor adenolymphoma NCIT:C2854 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of colon adenomatous polyp of colon Adenomatous Polyp of Colon NCIT:C96479 Colon Adenomatous Polyp adenomatous polyp of colon NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of the colon adenomatous polyp of the colon Adenomatous Polyp of the Colon NCIT:C96479 Colon Adenomatous Polyp adenomatous polyp of the colon NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colon adenomatous polyp colon adenomatous polyp Colon Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp colon adenomatous polyp NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colonic adenomatous polyp colonic adenomatous polyp Colonic Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp colonic adenomatous polyp NCIT:C96479 -MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma hamartoma NCIT:C3075 MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma HAMARTOMA NCIT:C3075 Hamartoma hamartoma NCIT:C3075 +MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma hamartoma NCIT:C3075 MONDO:0006500 hemangioma oio:hasExactSynonym benign hemangioma benign hemangioma Benign Hemangioma NCIT:C3085 Hemangioma benign hemangioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma hemangioma Hemangioma NCIT:C3085 Hemangioma hemangioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma, benign hemangioma, benign HEMANGIOMA, BENIGN NCIT:C3085 Hemangioma hemangioma, benign NCIT:C3085 @@ -12192,14 +12039,11 @@ MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal neoplasm malig MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal tumor malignant rectal tumor Malignant Rectal Tumor NCIT:C7418 Malignant Rectal Neoplasm malignant rectal tumor NCIT:C7418 MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of rectum malignant tumor of rectum Malignant Tumor of Rectum NCIT:C7418 Malignant Rectal Neoplasm malignant tumor of rectum NCIT:C7418 MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of the rectum malignant tumor of the rectum Malignant Tumor of the Rectum NCIT:C7418 Malignant Rectal Neoplasm malignant tumor of the rectum NCIT:C7418 -MONDO:0006519 rectal cancer oio:hasExactSynonym cancer of rectum cancer of rectum Cancer of Rectum NCIT:C9382 Rectal Carcinoma cancer of rectum NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma rectal cancer NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym rectum cancer rectum cancer Rectum Cancer NCIT:C9382 Rectal Carcinoma rectum cancer NCIT:C9382 MONDO:0006520 Achenbach syndrome oio:hasExactSynonym Achenbach syndrome Achenbach syndrome Achenbach Syndrome NCIT:C35467 Achenbach Syndrome Achenbach syndrome NCIT:C35467 MONDO:0006522 acquired keratosis oio:hasExactSynonym acquired keratoderma acquired keratoderma Acquired Keratoderma NCIT:C34746 Acquired Keratoderma acquired keratoderma NCIT:C34746 MONDO:0006525 allergic contact dermatitis oio:hasExactSynonym allergic contact dermatitis allergic contact dermatitis Allergic Contact Dermatitis NCIT:C26998 Allergic Contact Dermatitis allergic contact dermatitis NCIT:C26998 -MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma Cholesteatoma NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 +MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of middle ear cholesteatoma of middle ear Cholesteatoma of Middle Ear NCIT:C3654 Middle Ear Cholesteatoma cholesteatoma of middle ear NCIT:C3654 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of the middle ear cholesteatoma of the middle ear Cholesteatoma of the Middle Ear NCIT:C3654 Middle Ear Cholesteatoma cholesteatoma of the middle ear NCIT:C3654 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym middle ear cholesteatoma middle ear cholesteatoma Middle Ear Cholesteatoma NCIT:C3654 Middle Ear Cholesteatoma middle ear cholesteatoma NCIT:C3654 @@ -12292,13 +12136,11 @@ MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym eosinophil MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym pituitary gland acidophil adenoma pituitary gland acidophil adenoma Pituitary Gland Acidophil Adenoma NCIT:C6780 Pituitary Gland Acidophil Adenoma pituitary gland acidophil adenoma NCIT:C6780 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal failure with tubular necrosis acute renal failure with tubular necrosis Acute Renal Failure with Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis acute renal failure with tubular necrosis NCIT:C34749 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis acute tubular necrosis Acute Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis acute tubular necrosis NCIT:C34749 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma NCIT:C2970 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma NCIT:C2970 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adenocarcinoma, adrenocortical, malignant adenocarcinoma, adrenocortical, malignant Adenocarcinoma, Adrenocortical, Malignant NCIT:C9325 Adrenal Cortical Carcinoma adenocarcinoma, adrenocortical, malignant NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex adenocarcinoma adrenal cortex adenocarcinoma Adrenal Cortex Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex carcinoma adrenal cortex carcinoma Adrenal Cortex Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex carcinoma NCIT:C9325 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal Cortical Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 +MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal Cortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical carcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical carcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma adrenocortical carcinoma Adrenocortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenocortical carcinoma NCIT:C9325 @@ -12310,8 +12152,8 @@ MONDO:0006643 alcoholic cardiomyopathy oio:hasExactSynonym alcoholic cardiomyop MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym alcoholic cirrhosis alcoholic cirrhosis Alcoholic Cirrhosis NCIT:C34782 Alcoholic Cirrhosis alcoholic cirrhosis NCIT:C34782 MONDO:0006646 angioleiomyoma oio:hasExactSynonym angioleiomyoma angioleiomyoma Angioleiomyoma NCIT:C3747 Angioleiomyoma angioleiomyoma NCIT:C3747 MONDO:0006646 angioleiomyoma oio:hasExactSynonym angiomyoma angiomyoma Angiomyoma NCIT:C3747 Angioleiomyoma angiomyoma NCIT:C3747 -MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular Leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 +MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 MONDO:0006651 anterior uveitis oio:hasExactSynonym anterior uveitis anterior uveitis Anterior Uveitis NCIT:C35109 Anterior Uveitis anterior uveitis NCIT:C35109 MONDO:0006654 anthracosis oio:hasExactSynonym coal miner's pneumoconiosis coal miner's pneumoconiosis Coal Miner's Pneumoconiosis NCIT:C34390 Anthracosis coal miner's pneumoconiosis NCIT:C34390 MONDO:0006660 arthus reaction oio:hasExactSynonym arthus phenomenon arthus phenomenon Arthus Phenomenon NCIT:C34400 Arthus Reaction arthus phenomenon NCIT:C34400 @@ -12380,12 +12222,9 @@ MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign neoplasm of t MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of duodenum benign tumor of duodenum Benign Tumor of Duodenum NCIT:C4775 Benign Duodenal Neoplasm benign tumor of duodenum NCIT:C4775 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of the duodenum benign tumor of the duodenum Benign Tumor of the Duodenum NCIT:C4775 Benign Duodenal Neoplasm benign tumor of the duodenum NCIT:C4775 MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym poroma poroma Poroma NCIT:C27273 Poroma poroma NCIT:C27273 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma eccrine acrospiroma NCIT:C7563 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma eccrine acrospiroma NCIT:C7563 MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella empty sella Empty Sella NCIT:C84686 Empty Sella Syndrome empty sella NCIT:C84686 MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome empty sella syndrome Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome empty sella syndrome NCIT:C84686 MONDO:0006742 endemic goiter oio:hasExactSynonym simple goiter simple goiter Simple Goiter NCIT:C35023 Endemic Goiter simple goiter NCIT:C35023 -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome Empty Sella Syndrome NCIT:C84686 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma endometrial stromal sarcoma Endometrial Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma endometrial stromal sarcoma NCIT:C8973 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrioid stromal sarcoma endometrioid stromal sarcoma Endometrioid Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma endometrioid stromal sarcoma NCIT:C8973 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym stromal sarcoma, endometrial, malignant stromal sarcoma, endometrial, malignant STROMAL SARCOMA, ENDOMETRIAL, MALIGNANT NCIT:C8973 Endometrioid Stromal Sarcoma stromal sarcoma, endometrial, malignant NCIT:C8973 @@ -12437,17 +12276,17 @@ MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis Carcin MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis carcinomatosa mastitis carcinomatosa Mastitis Carcinomatosa NCIT:C4001 Breast Inflammatory Carcinoma mastitis carcinomatosa NCIT:C4001 MONDO:0006806 intermediate uveitis oio:hasExactSynonym intermediate uveitis intermediate uveitis Intermediate Uveitis NCIT:C35110 Intermediate Uveitis intermediate uveitis NCIT:C35110 MONDO:0006807 intestinal perforation oio:hasExactSynonym perforation of intestine perforation of intestine Perforation of Intestine NCIT:C39611 Intestinal Perforation perforation of intestine NCIT:C39611 -MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal Nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 +MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 MONDO:0006814 iritis oio:hasExactSynonym iritis iritis Iritis NCIT:C50621 Iritis iritis NCIT:C50621 MONDO:0006816 arthropathy oio:hasExactSynonym Joint disorder Joint disorder Joint Disorder NCIT:C35760 Arthropathy Joint disorder NCIT:C35760 MONDO:0006816 arthropathy oio:hasExactSynonym arthropathy arthropathy Arthropathy NCIT:C35760 Arthropathy arthropathy NCIT:C35760 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteogenic sarcoma juxtacortical osteogenic sarcoma Juxtacortical Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteogenic sarcoma NCIT:C8969 -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteogenic sarcoma parosteal osteogenic sarcoma Parosteal Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteogenic sarcoma NCIT:C8969 -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym 47,XXY syndrome 47,XXY syndrome 47,XXY Syndrome NCIT:C34752 Klinefelter Syndrome 47,XXY syndrome NCIT:C34752 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter syndrome Klinefelter syndrome Klinefelter Syndrome NCIT:C34752 Klinefelter Syndrome Klinefelter syndrome NCIT:C34752 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter's syndrome Klinefelter's syndrome Klinefelter's Syndrome NCIT:C34752 Klinefelter Syndrome Klinefelter's syndrome NCIT:C34752 @@ -12463,7 +12302,6 @@ MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasE MONDO:0006830 leukoplakia of penis oio:hasExactSynonym kraurosis penis kraurosis penis Kraurosis Penis NCIT:C3151 Penile Leukoplakia kraurosis penis NCIT:C3151 MONDO:0006830 leukoplakia of penis oio:hasExactSynonym leukoplakia of the penis leukoplakia of the penis Leukoplakia of the Penis NCIT:C3151 Penile Leukoplakia leukoplakia of the penis NCIT:C3151 MONDO:0006830 leukoplakia of penis oio:hasExactSynonym penile leukoplakia penile leukoplakia Penile Leukoplakia NCIT:C3151 Penile Leukoplakia penile leukoplakia NCIT:C3151 -MONDO:0006834 lip cancer oio:hasExactSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma lip cancer NCIT:C3490 MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip neoplasm malignant Lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm malignant Lip neoplasm NCIT:C7485 MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip tumor malignant Lip tumor Malignant Lip Tumor NCIT:C7485 Malignant Lip Neoplasm malignant Lip tumor NCIT:C7485 MONDO:0006834 lip cancer oio:hasExactSynonym malignant lip neoplasm malignant lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm malignant lip neoplasm NCIT:C7485 @@ -12488,14 +12326,11 @@ MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of maxillar MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of the maxillary sinus neoplasm of the maxillary sinus Neoplasm of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm neoplasm of the maxillary sinus NCIT:C3219 MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of maxillary sinus tumor of maxillary sinus Tumor of Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm tumor of maxillary sinus NCIT:C3219 MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of the maxillary sinus tumor of the maxillary sinus Tumor of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm tumor of the maxillary sinus NCIT:C3219 -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym meconium aspiration syndrome meconium aspiration syndrome Meconium Aspiration Syndrome NCIT:C87093 Meconium Aspiration Syndrome meconium aspiration syndrome NCIT:C87093 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym neonatal aspiration of meconium neonatal aspiration of meconium Neonatal Aspiration of Meconium NCIT:C87093 Meconium Aspiration Syndrome neonatal aspiration of meconium NCIT:C87093 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C27374 -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 +MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 MONDO:0006854 mesenchymoma oio:hasExactSynonym mesenchymoma mesenchymoma Mesenchymoma NCIT:C3233 Mesenchymoma mesenchymoma NCIT:C3233 MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial neoplasm mesothelial neoplasm Mesothelial Neoplasm NCIT:C3786 Mesothelial Neoplasm mesothelial neoplasm NCIT:C3786 MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial tumor mesothelial tumor Mesothelial Tumor NCIT:C3786 Mesothelial Neoplasm mesothelial tumor NCIT:C3786 @@ -12505,13 +12340,13 @@ MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym adenoma, mucinous, benig MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous adenoma NCIT:C2973 Mucinous Cystadenoma mucinous adenoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous Adenoma NCIT:C2973 Mucinous Cystadenoma mucinous adenoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystadenoma mucinous cystadenoma Mucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma mucinous cystadenoma NCIT:C2973 -MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 +MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym pseudomucinous cystadenoma pseudomucinous cystadenoma Pseudomucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma pseudomucinous cystadenoma NCIT:C2973 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym chloroma chloroma Chloroma NCIT:C3520 Myeloid Sarcoma chloroma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym extramedullary myeloid tumor extramedullary myeloid tumor Extramedullary Myeloid Tumor NCIT:C3520 Myeloid Sarcoma extramedullary myeloid tumor NCIT:C3520 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 +MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym sarcoma, myeloid, malignant sarcoma, myeloid, malignant SARCOMA, MYELOID, MALIGNANT NCIT:C3520 Myeloid Sarcoma sarcoma, myeloid, malignant NCIT:C3520 MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma myxosarcoma Myxosarcoma NCIT:C3255 Myxosarcoma myxosarcoma NCIT:C3255 MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma, malignant myxosarcoma, malignant MYXOSARCOMA, MALIGNANT NCIT:C3255 Myxosarcoma myxosarcoma, malignant NCIT:C3255 @@ -12580,13 +12415,13 @@ MONDO:0006964 secondary hyperparathyroidism oio:hasExactSynonym secondary hyper MONDO:0006966 secondary Parkinson disease oio:hasExactSynonym secondary Parkinsonism secondary Parkinsonism Secondary Parkinsonism NCIT:C34899 Secondary Parkinsonism secondary Parkinsonism NCIT:C34899 MONDO:0006969 sialadenitis oio:hasExactSynonym sialitis sialitis Sialitis NCIT:C115165 Sialitis sialitis NCIT:C115165 MONDO:0006969 sialadenitis oio:hasExactSynonym sialoadenitis sialoadenitis Sialoadenitis NCIT:C26882 Sialadenitis sialoadenitis NCIT:C26882 -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of adnexa carcinoma of adnexa Carcinoma of Adnexa NCIT:C3775 Adnexal Carcinoma carcinoma of adnexa NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of skin appendage carcinoma of skin appendage Carcinoma of Skin Appendage NCIT:C3775 Adnexal Carcinoma carcinoma of skin appendage NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma, adnexal, malignant carcinoma, adnexal, malignant CARCINOMA, ADNEXAL, MALIGNANT NCIT:C3775 Adnexal Carcinoma carcinoma, adnexal, malignant NCIT:C3775 -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin Appendage Carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small cell sarcoma NCIT:C3746 Small Cell Sarcoma small cell sarcoma NCIT:C3746 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small Cell Sarcoma NCIT:C3746 Small Cell Sarcoma small cell sarcoma NCIT:C3746 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcomas small cell sarcomas Small Cell Sarcomas NCIT:C3746 Small Cell Sarcoma small cell sarcomas NCIT:C3746 @@ -12619,7 +12454,6 @@ MONDO:0006989 suppurative periapical periodontitis oio:hasExactSynonym periapic MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym spinal cord syndrome spinal cord syndrome Spinal Cord Syndrome NCIT:C99080 Tethered Spinal Cord Syndrome spinal cord syndrome NCIT:C99080 MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym tethered cord tethered cord Tethered Cord NCIT:C99080 Tethered Spinal Cord Syndrome tethered cord NCIT:C99080 MONDO:0006996 thyroid crisis oio:hasExactSynonym thyroid storm thyroid storm Thyroid Storm NCIT:C112836 Thyroid Storm thyroid storm NCIT:C112836 -MONDO:0006998 tonsil cancer oio:hasExactSynonym tonsil cancer tonsil cancer Tonsil Cancer NCIT:C4825 Tonsillar Carcinoma tonsil cancer NCIT:C4825 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of the tonsil malignant neoplasm of the tonsil Malignant Neoplasm of the Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm malignant neoplasm of the tonsil NCIT:C7404 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of tonsil malignant neoplasm of tonsil Malignant Neoplasm of Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm malignant neoplasm of tonsil NCIT:C7404 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant tonsil neoplasm malignant tonsil neoplasm Malignant Tonsil Neoplasm NCIT:C7404 Malignant Tonsillar Neoplasm malignant tonsil neoplasm NCIT:C7404 @@ -12680,7 +12514,6 @@ MONDO:0007074 ainhum oio:hasExactSynonym ainhum ainhum Ainhum NCIT:C84544 Ainhu MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism Type 1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Pseudohypoparathyroidism type 1A NCIT:C129721 MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym PHP1A PHP1A PHP1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHP1A NCIT:C129721 -MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 MONDO:0007079 alcohol dependence oio:hasExactSynonym alcohol dependence alcohol dependence Alcohol Dependence NCIT:C93040 Alcohol Dependence alcohol dependence NCIT:C93040 MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym amyloid neuropathies, familial amyloid neuropathies, familial Amyloid Neuropathies, Familial NCIT:C84554 Familial Amyloid Neuropathy amyloid neuropathies, familial NCIT:C84554 MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym familial amyloid polyneuropathy familial amyloid polyneuropathy Familial Amyloid Polyneuropathy NCIT:C84554 Familial Amyloid Neuropathy familial amyloid polyneuropathy NCIT:C84554 @@ -12704,8 +12537,8 @@ MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congeni MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome obstructive sleep apnea syndrome Obstructive Sleep Apnea Syndrome NCIT:C27168 Obstructive Sleep Apnea Syndrome obstructive sleep apnea syndrome NCIT:C27168 MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym cerebral arteriovenous malformation cerebral arteriovenous malformation Cerebral Arteriovenous Malformation NCIT:C2936 Cerebral Arteriovenous Malformation/Hemangioma cerebral arteriovenous malformation NCIT:C2936 MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym Stickler syndrome type 1 Stickler syndrome type 1 Stickler Syndrome Type 1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Stickler syndrome type 1 NCIT:C168733 -MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 +MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disorder autoimmune disorder Autoimmune Disorder NCIT:C2889 Autoimmune Disease autoimmune disorder NCIT:C2889 MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym Machado-Joseph disease Machado-Joseph disease Machado-Joseph Disease NCIT:C84830 Spinocerebellar Ataxia Type 3 Machado-Joseph disease NCIT:C84830 MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym spinocerebellar ataxia type 3 spinocerebellar ataxia type 3 Spinocerebellar Ataxia Type 3 NCIT:C84830 Spinocerebellar Ataxia Type 3 spinocerebellar ataxia type 3 NCIT:C84830 @@ -12732,8 +12565,8 @@ MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym bean syndrome bean syn MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym blue rubber bleb nevus blue rubber bleb nevus Blue Rubber Bleb Nevus NCIT:C4486 Blue Rubber Bleb Nevus blue rubber bleb nevus NCIT:C4486 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym Hardcastle's syndrome Hardcastle's syndrome Hardcastle's Syndrome NCIT:C122660 Hardcastle's Syndrome Hardcastle's syndrome NCIT:C122660 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym DMS-MFH NCIT:C122660 Hardcastle's Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMS-MFH NCIT:C122660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 +MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft remnant branchial cleft remnant Branchial Cleft Remnant NCIT:C104813 Branchial Cleft Remnant branchial cleft remnant NCIT:C104813 MONDO:0007238 amastia oio:hasExactSynonym amastia amastia Amastia NCIT:C118459 Amastia amastia NCIT:C118459 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym Lenegre's disease Lenegre's disease Lenegre's Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia Lenegre's disease NCIT:C126651 @@ -12744,11 +12577,8 @@ MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym Burkitt's lymphoma Burkitt's MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym small non-cleaved cell lymphoma, Burkitt's type small non-cleaved cell lymphoma, Burkitt's type Small Non-Cleaved Cell Lymphoma, Burkitt's Type NCIT:C2912 Burkitt Lymphoma small non-cleaved cell lymphoma, Burkitt's type NCIT:C2912 MONDO:0007244 Caffey disease oio:hasExactSynonym Caffey disease Caffey disease Caffey Disease NCIT:C118423 Infantile Cortical Hyperostosis Caffey disease NCIT:C118423 MONDO:0007244 Caffey disease oio:hasExactSynonym infantile cortical hyperostosis infantile cortical hyperostosis Infantile Cortical Hyperostosis NCIT:C118423 Infantile Cortical Hyperostosis infantile cortical hyperostosis NCIT:C118423 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic Dysplasia NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia NCIT:C84609 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007254 breast cancer oio:hasExactSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma breast cancer NCIT:C4872 -MONDO:0007254 breast cancer oio:hasExactSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma cancer of breast NCIT:C4872 MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast neoplasm malignant breast neoplasm Malignant Breast Neoplasm NCIT:C9335 Malignant Breast Neoplasm malignant breast neoplasm NCIT:C9335 MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast tumor malignant breast tumor Malignant Breast Tumor NCIT:C9335 Malignant Breast Neoplasm malignant breast tumor NCIT:C9335 MONDO:0007254 breast cancer oio:hasExactSynonym malignant neoplasm of breast malignant neoplasm of breast Malignant Neoplasm of Breast NCIT:C9335 Malignant Breast Neoplasm malignant neoplasm of breast NCIT:C9335 @@ -12762,14 +12592,11 @@ MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cance MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma hepatocellular carcinoma Hepatocellular Carcinoma NCIT:C3099 Hepatocellular Carcinoma hepatocellular carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatoma hepatoma Hepatoma NCIT:C3099 Hepatocellular Carcinoma hepatoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell cancer (hepatocellular carcinoma) liver cell cancer (hepatocellular carcinoma) Liver Cell Cancer (Hepatocellular Carcinoma) NCIT:C3099 Hepatocellular Carcinoma liver cell cancer (hepatocellular carcinoma) NCIT:C3099 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver cell carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 +MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of liver cells primary carcinoma of liver cells Primary Carcinoma of Liver Cells NCIT:C3099 Hepatocellular Carcinoma primary carcinoma of liver cells NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of the liver cells primary carcinoma of the liver cells Primary Carcinoma of the Liver Cells NCIT:C3099 Hepatocellular Carcinoma primary carcinoma of the liver cells NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym HCC NCIT:C3099 Hepatocellular Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCC NCIT:C3099 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma liver carcinoma NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma hepatocellular cancer NCIT:C7955 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma hepatocellular cancer NCIT:C7956 MONDO:0007263 cardiac rhythm disease oio:hasExactSynonym arrhythmia arrhythmia Arrhythmia NCIT:C2881 Arrhythmia arrhythmia NCIT:C2881 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym familial hypertrophic cardiomyopathy type 2 familial hypertrophic cardiomyopathy type 2 Familial Hypertrophic Cardiomyopathy Type 2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 familial hypertrophic cardiomyopathy type 2 NCIT:C142892 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym CMH2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMH2 NCIT:C142892 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12882,7 +12709,6 @@ MONDO:0007496 dystonia 12 oio:hasExactSynonym DYT12 NCIT:C157577 Dystonia 12 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type oio:hasExactSynonym Ehlers-Danlos syndrome, type III Ehlers-Danlos syndrome, type III Ehlers-Danlos Syndrome, Type III NCIT:C125698 Ehlers-Danlos Syndrome, Type III Ehlers-Danlos syndrome, type III NCIT:C125698 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym Ehlers-Danlos syndrome, type VII Ehlers-Danlos syndrome, type VII Ehlers-Danlos Syndrome, Type VII NCIT:C125701 Ehlers-Danlos Syndrome, Type VII Ehlers-Danlos syndrome, type VII NCIT:C125701 MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome NCIT:C34415 Beckwith-Wiedemann Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Beckwith-Wiedemann syndrome NCIT:C34415 -MONDO:0007536 congenital lobar emphysema oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type 1 MEA type 1 MEA Type 1 NCIT:C3225 Multiple Endocrine Neoplasia Type 1 MEA type 1 NCIT:C3225 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type I MEA type I MEA Type I NCIT:C3225 Multiple Endocrine Neoplasia Type 1 MEA type I NCIT:C3225 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym Wermer syndrome Wermer syndrome Wermer Syndrome NCIT:C3225 Multiple Endocrine Neoplasia Type 1 Wermer syndrome NCIT:C3225 @@ -12923,8 +12749,6 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self healing epithelioma of Ferguson-Smith multiple self healing epithelioma of Ferguson-Smith Multiple Self Healing Epithelioma of Ferguson-Smith NCIT:C4461 Multiple Self Healing Epithelioma of Ferguson-Smith multiple self healing epithelioma of Ferguson-Smith NCIT:C4461 MONDO:0007571 primary erythermalgia oio:hasExactSynonym primary erythromelalgia primary erythromelalgia Primary Erythromelalgia NCIT:C125383 Primary Erythromelalgia primary erythromelalgia NCIT:C125383 MONDO:0007571 primary erythermalgia oio:hasExactSynonym PERYTHM NCIT:C125383 Primary Erythromelalgia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PERYTHM NCIT:C125383 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma cancer of esophagus NCIT:C3513 -MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma esophageal cancer NCIT:C3513 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal neoplasm malignant esophageal neoplasm Malignant Esophageal Neoplasm NCIT:C7478 Malignant Esophageal Neoplasm malignant esophageal neoplasm NCIT:C7478 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal tumor malignant esophageal tumor Malignant Esophageal Tumor NCIT:C7478 Malignant Esophageal Neoplasm malignant esophageal tumor NCIT:C7478 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophagus tumor malignant esophagus tumor Malignant Esophagus Tumor NCIT:C7478 Malignant Esophageal Neoplasm malignant esophagus tumor NCIT:C7478 @@ -12955,8 +12779,8 @@ MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone B-cell MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym Immunocytoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Immunocytoma NCIT:C3898 -MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 +MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALToma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALToma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym mucosa-associated lymphoid tissue lymphoma mucosa-associated lymphoid tissue lymphoma Mucosa-Associated Lymphoid Tissue Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue mucosa-associated lymphoid tissue lymphoma NCIT:C3898 MONDO:0007652 gastric mucosal hypertrophy oio:hasExactSynonym MENETRIER disease MENETRIER disease Menetrier Disease NCIT:C67277 Giant Hypertrophic Gastritis MENETRIER disease NCIT:C67277 @@ -12970,10 +12794,10 @@ MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym Gerst MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette syndrome Tourette syndrome Tourette Syndrome NCIT:C35078 Tourette Syndrome Tourette syndrome NCIT:C35078 MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette's syndrome Tourette's syndrome Tourette's Syndrome NCIT:C35078 Tourette Syndrome Tourette's syndrome NCIT:C35078 MONDO:0007667 subependymoma oio:hasExactSynonym SUBEPENDYMOMA, benign SUBEPENDYMOMA, benign SUBEPENDYMOMA, BENIGN NCIT:C3795 Subependymoma SUBEPENDYMOMA, benign NCIT:C3795 -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm WHO Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor Who Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal astrocytoma subependymal astrocytoma Subependymal Astrocytoma NCIT:C3795 Subependymoma subependymal astrocytoma NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal glioma NCIT:C3795 Subependymoma subependymal glioma NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal Glioma NCIT:C3795 Subependymoma subependymal glioma NCIT:C3795 @@ -12984,7 +12808,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym maturity on MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome renal cysts and diabetes syndrome Renal Cysts and Diabetes Syndrome NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome NCIT:C123018 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY5 NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation NCIT:C4222 Glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glomuvenous malformation NCIT:C4222 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma familial glomangioma Familial Glomangioma NCIT:C5350 Hereditary Glomangioma familial glomangioma NCIT:C5350 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym hereditary glomangioma hereditary glomangioma Hereditary Glomangioma NCIT:C5350 Hereditary Glomangioma hereditary glomangioma NCIT:C5350 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym gray platelet syndrome gray platelet syndrome Gray Platelet Syndrome NCIT:C84741 Gray Platelet Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL gray platelet syndrome NCIT:C84741 @@ -13052,12 +12875,12 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I hypersensit MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I immediate hypersensitivity reaction type I immediate hypersensitivity reaction Type I Immediate Hypersensitivity Reaction NCIT:C3116 Type I Hypersensitivity type I immediate hypersensitivity reaction NCIT:C3116 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym JOB syndrome JOB syndrome Job Syndrome NCIT:C126342 STAT3 Deficiency JOB syndrome NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym Job's syndrome NCIT:C126342 STAT3 Deficiency Job's syndrome NCIT:C126342 -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym autosomal dominant hyper-IgE syndrome autosomal dominant hyper-IgE syndrome Autosomal dominant hyper-IgE syndrome NCIT:C126342 STAT3 Deficiency autosomal dominant hyper-IgE syndrome NCIT:C126342 MONDO:0007827 inclusion body myositis oio:hasExactSynonym inclusion body myositis inclusion body myositis Inclusion Body Myositis NCIT:C84786 Inclusion Body Myositis inclusion body myositis NCIT:C84786 -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet cell adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 +MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym 11q terminal deletion disorder 11q terminal deletion disorder 11q Terminal Deletion Disorder NCIT:C75457 Jacobsen Syndrome 11q terminal deletion disorder NCIT:C75457 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Jacobsen syndrome Jacobsen Syndrome NCIT:C75457 Jacobsen Syndrome Jacobsen syndrome NCIT:C75457 MONDO:0007863 Kleine-Levin syndrome oio:hasExactSynonym Kleine-Levin syndrome Kleine-Levin syndrome Kleine-Levin Syndrome NCIT:C84800 Kleine-Levin Syndrome Kleine-Levin syndrome NCIT:C84800 @@ -13101,25 +12924,21 @@ MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynony MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer Hereditary Leiomyomatosis and Renal Cell Cancer NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hereditary leiomyomatosis and renal cell cancer NCIT:C51302 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym HLRCC NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLRCC NCIT:C51302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym LEOPARD syndrome LEOPARD syndrome LEOPARD Syndrome NCIT:C84820 LEOPARD Syndrome LEOPARD syndrome NCIT:C84820 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym leukemia, monocytic, malignant leukemia, monocytic, malignant LEUKEMIA, MONOCYTIC, MALIGNANT NCIT:C4861 Acute Monocytic Leukemia leukemia, monocytic, malignant NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia acute monocytic leukemia NCIT:C8263 MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym lichen sclerosus et atrophicus lichen sclerosus et atrophicus Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus lichen sclerosus et atrophicus NCIT:C26817 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym Madelung's Disease NCIT:C3193 Lipomatosis Madelung's Disease NCIT:C3193 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym cervical symmetrical lipomatosis cervical symmetrical lipomatosis Cervical Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis cervical symmetrical lipomatosis NCIT:C4392 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis multiple symmetrical lipomatosis Multiple Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis NCIT:C4392 -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus NCIT:C27153 Lupus Erythematosus Lupus NCIT:C27153 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, Systemic NCIT:C3201 Systemic Lupus Erythematosus SLE - lupus erythematosus, systemic NCIT:C3201 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic Lupus Erythematosus NCIT:C3201 Systemic Lupus Erythematosus systemic lupus erythematosus NCIT:C3201 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE NCIT:C3201 Systemic Lupus Erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLE NCIT:C3201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow Nail Syndrome NCIT:C85238 Yellow Nail Syndrome yellow nail syndrome NCIT:C85238 MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym lymphedema-distichiasis syndrome lymphedema-distichiasis syndrome Lymphedema-Distichiasis Syndrome NCIT:C128191 Lymphedema-Distichiasis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL lymphedema-distichiasis syndrome NCIT:C128191 -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome Ruvalcaba-MYHRE-SMITH syndrome NCIT:C3076 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan syndrome Bannayan syndrome Bannayan Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan syndrome NCIT:C3939 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Riley-Ruvalcaba syndrome NCIT:C3939 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Zonana syndrome Bannayan-Zonana syndrome Bannayan-Zonana Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Zonana syndrome NCIT:C3939 @@ -13132,7 +12951,6 @@ MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasE MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym 46,XY sex reversal 4 46,XY sex reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 46,XY sex reversal 4 NCIT:C132270 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan's syndrome Marfan's syndrome Marfan's Syndrome NCIT:C34807 Marfan Syndrome Marfan's syndrome NCIT:C34807 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome Marfan syndrome Marfan Syndrome NCIT:C34807 Marfan Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marfan syndrome NCIT:C34807 -MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Marshall syndrome NCIT:C116917 MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome Marshall syndrome NCIT:C128115 MONDO:0007950 mastocytosis oio:hasExactSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis Mast cell disease NCIT:C84269 MONDO:0007950 mastocytosis oio:hasExactSynonym mastocytosis mastocytosis Mastocytosis NCIT:C84269 Mastocytosis mastocytosis NCIT:C84269 @@ -13142,8 +12960,6 @@ MONDO:0007955 Meckel diverticulum oio:hasExactSynonym Meckel's diverticulum Mec MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma, malignant medulloblastoma, malignant MEDULLOBLASTOMA, MALIGNANT NCIT:C3222 Medulloblastoma medulloblastoma, malignant NCIT:C3222 MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastomas medulloblastomas Medulloblastomas NCIT:C3222 Medulloblastoma medulloblastomas NCIT:C3222 MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C3222 -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C3997 -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C4011 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym Atypical Mole syndrome Atypical Mole syndrome Atypical Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome Atypical Mole syndrome NCIT:C7584 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome B-K Mole syndrome NCIT:C7584 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym dysplastic nevus syndrome dysplastic nevus syndrome Dysplastic Nevus Syndrome NCIT:C7584 Dysplastic Nevus Syndrome dysplastic nevus syndrome NCIT:C7584 @@ -13170,10 +12986,9 @@ MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym muller MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy 1 Facioscapulohumeral Muscular Dystrophy 1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 facioscapulohumeral muscular dystrophy 1 NCIT:C172704 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral Muscular Dystrophy 2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 facioscapulohumeral muscular dystrophy 2 NCIT:C172705 MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytopenia syndrome ataxia-pancytopenia syndrome Ataxia-Pancytopenia Syndrome NCIT:C176909 Ataxia-Pancytopenia Syndrome ataxia-pancytopenia syndrome NCIT:C176909 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD NCIT:C63709 Temporomandibular Joint Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD NCIT:C63709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym Transient abnormal myelopoiesis associated with Down syndrome Transient abnormal myelopoiesis associated with Down syndrome Transient Abnormal Myelopoiesis Associated with Down Syndrome NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome Transient abnormal myelopoiesis associated with Down syndrome NCIT:C82339 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient abnormal myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 +MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disorder transient myeloproliferative disorder Transient Myeloproliferative Disorder NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient myeloproliferative disorder NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TAM NCIT:C82339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym centronuclear myopathy 1 centronuclear myopathy 1 Centronuclear Myopathy 1 NCIT:C126689 Centronuclear Myopathy 1 centronuclear myopathy 1 NCIT:C126689 @@ -13183,7 +12998,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyos MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease Steinert Disease NCIT:C84679 Dystrophia Myotonica 1 Steinert disease NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome Steinert myotonic dystrophy syndrome Steinert Myotonic Dystrophy Syndrome NCIT:C84679 Dystrophia Myotonica 1 Steinert myotonic dystrophy syndrome NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome Steinert syndrome Steinert Syndrome NCIT:C84679 Dystrophia Myotonica 1 Steinert syndrome NCIT:C84679 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy NCIT:C84914 Myotonic Dystrophy Myotonic Dystrophy NCIT:C84914 MONDO:0008061 nail-patella syndrome oio:hasExactSynonym hereditary Osteo-onychodysplasia hereditary Osteo-onychodysplasia Hereditary Osteo-Onychodysplasia NCIT:C75120 Nail-Patella Syndrome hereditary Osteo-onychodysplasia NCIT:C75120 MONDO:0008061 nail-patella syndrome oio:hasExactSynonym nail-patella syndrome nail-patella syndrome Nail-Patella Syndrome NCIT:C75120 Nail-Patella Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nail-patella syndrome NCIT:C75120 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym medullary cystic kidney disease type II medullary cystic kidney disease type II Medullary Cystic Kidney Disease Type II NCIT:C123172 Medullary Cystic Kidney Disease Type II medullary cystic kidney disease type II NCIT:C123172 @@ -13244,7 +13058,6 @@ MONDO:0008167 dermoid cyst of ovary oio:hasExactSynonym ovarian dermoid cyst ov MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of ovary fibroma of ovary Fibroma of Ovary NCIT:C3498 Ovarian Fibroma fibroma of ovary NCIT:C3498 MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of the ovary fibroma of the ovary Fibroma of the Ovary NCIT:C3498 Ovarian Fibroma fibroma of the ovary NCIT:C3498 MONDO:0008168 ovarian fibroma oio:hasExactSynonym ovarian fibroma ovarian fibroma Ovarian Fibroma NCIT:C3498 Ovarian Fibroma ovarian fibroma NCIT:C3498 -MONDO:0008170 ovarian cancer oio:hasExactSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma ovarian cancer NCIT:C4908 MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of ovary cancer of ovary Cancer of Ovary NCIT:C7431 Malignant Ovarian Neoplasm cancer of ovary NCIT:C7431 MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of the ovary cancer of the ovary Cancer of the Ovary NCIT:C7431 Malignant Ovarian Neoplasm cancer of the ovary NCIT:C7431 MONDO:0008170 ovarian cancer oio:hasExactSynonym malignant neoplasm of ovary malignant neoplasm of ovary Malignant Neoplasm of Ovary NCIT:C7431 Malignant Ovarian Neoplasm malignant neoplasm of ovary NCIT:C7431 @@ -13263,8 +13076,8 @@ MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's disease of MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's skin disease Paget's skin disease Paget's Skin Disease NCIT:C3302 Extramammary Paget Disease Paget's skin disease NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym extramammary Paget disease extramammary Paget disease Extramammary Paget Disease NCIT:C3302 Extramammary Paget Disease extramammary Paget disease NCIT:C3302 MONDO:0008179 paroxysmal extreme pain disorder oio:hasExactSynonym paroxysmal extreme pain disorder paroxysmal extreme pain disorder Paroxysmal Extreme Pain Disorder NCIT:C125385 Paroxysmal Extreme Pain Disorder paroxysmal extreme pain disorder NCIT:C125385 -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary Pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 +MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita paramyotonia congenita Paramyotonia Congenita NCIT:C122790 Paramyotonia Congenita paramyotonia congenita NCIT:C122790 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita of Von Eulenburg paramyotonia congenita of Von Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita paramyotonia congenita of Von Eulenburg NCIT:C122790 MONDO:0008214 Pelger-Huet anomaly oio:hasExactSynonym Pelger-Huet anomaly Pelger-Huet anomaly Pelger-Huet Anomaly NCIT:C85002 Pelger-Huet Anomaly Pelger-Huet anomaly NCIT:C85002 @@ -13289,16 +13102,16 @@ MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym MEA type MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men 2A men 2A MEN 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type 2a men type 2a MEN Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men type 2a NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type II men type II MEN Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men type II NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type II multiple endocrine adenomatosis type II Multiple Endocrine Adenomatosis Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis, type II multiple endocrine adenomatosis, type II Multiple Endocrine Adenomatosis, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis, type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type II multiple endocrine neoplasia type II Multiple Endocrine Neoplasia Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine neoplasia type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia, type II multiple endocrine neoplasia, type II Multiple Endocrine Neoplasia, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine neoplasia, type II NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 MONDO:0008243 Pick disease oio:hasExactSynonym Pick disease Pick disease Pick Disease NCIT:C85008 Pick's Disease Pick disease NCIT:C85008 MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism NCIT:C85009 Piebaldism piebaldism NCIT:C85009 MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly Poland anomaly Poland Anomaly NCIT:C85017 Poland Syndrome Poland anomaly NCIT:C85017 @@ -13310,10 +13123,9 @@ MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of stomach polyps of sto MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of the stomach polyps of the stomach Polyps of the Stomach NCIT:C3954 Gastric Polyp polyps of the stomach NCIT:C3954 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Jeghers-Peutz syndrome Jeghers-Peutz syndrome Jeghers-Peutz Syndrome NCIT:C3324 Peutz-Jeghers Syndrome Jeghers-Peutz syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz's syndrome Peutz's syndrome Peutz's Syndrome NCIT:C3324 Peutz-Jeghers Syndrome Peutz's syndrome NCIT:C3324 -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 +MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym PJS NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PJS NCIT:C3324 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym gastric Peutz-Jeghers polyp gastric Peutz-Jeghers polyp Gastric Peutz-Jeghers Polyp NCIT:C36205 Peutz-Jeghers Polyp of the Stomach gastric Peutz-Jeghers polyp NCIT:C36205 MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis gastric Cronkhite Canada polyposis Gastric Cronkhite Canada Polyposis NCIT:C7035 Gastric Cronkhite Canada Polyposis gastric Cronkhite Canada polyposis NCIT:C7035 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalosyndactyly syndrome Greig cephalosyndactyly syndrome Greig Cephalosyndactyly Syndrome NCIT:C35255 Greig Syndrome Greig cephalosyndactyly syndrome NCIT:C35255 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome Greig's syndrome Greig's Syndrome NCIT:C35255 Greig Syndrome Greig's syndrome NCIT:C35255 @@ -13353,7 +13165,6 @@ MONDO:0008375 retinal detachment oio:hasExactSynonym retinal detachment retinal MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma, malignant retinoblastoma, malignant RETINOBLASTOMA, MALIGNANT NCIT:C7541 Retinoblastoma retinoblastoma, malignant NCIT:C7541 MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma retinoblastoma Retinoblastoma NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinoblastoma NCIT:C7541 MONDO:0008380 retinoblastoma oio:hasExactSynonym RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym rheumatoid arthritis rheumatoid arthritis Rheumatoid Arthritis NCIT:C2884 Rheumatoid Arthritis rheumatoid arthritis NCIT:C2884 MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Rieger syndrome type 1 Rieger syndrome type 1 Rieger Syndrome Type 1 NCIT:C75015 Rieger Syndrome Type 1 Rieger syndrome type 1 NCIT:C75015 @@ -13364,8 +13175,8 @@ MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver dwarfi MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome Russell-Silver Syndrome NCIT:C85068 Russell-Silver Syndrome Russell-Silver syndrome NCIT:C85068 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism Silver-Russell Dwarfism NCIT:C85068 Russell-Silver Syndrome Silver-Russell dwarfism NCIT:C85068 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome Silver-Russell syndrome Silver-Russell Syndrome NCIT:C85068 Russell-Silver Syndrome Silver-Russell syndrome NCIT:C85068 -MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic Adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 +MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym tumor, mixed, benign tumor, mixed, benign TUMOR, MIXED, BENIGN NCIT:C8602 Pleomorphic Adenoma tumor, mixed, benign NCIT:C8602 MONDO:0008410 Scheuermann disease oio:hasExactSynonym Calve's disease Calve's disease Calve's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine Calve's disease NCIT:C34999 MONDO:0008410 Scheuermann disease oio:hasExactSynonym Scheuermann's disease Scheuermann's disease Scheuermann's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine Scheuermann's disease NCIT:C34999 @@ -13394,7 +13205,6 @@ MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym chromosome 17p11.2 del MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Smith-Magenis syndrome Smith-Magenis Syndrome NCIT:C75469 Smith-Magenis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Smith-Magenis syndrome NCIT:C75469 MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym spastic Paraplegia 3A spastic Paraplegia 3A Spastic Paraplegia 3A NCIT:C142893 Spastic Paraplegia 3A spastic Paraplegia 3A NCIT:C142893 MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym strumpell disease strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A strumpell disease NCIT:C142893 -MONDO:0008449 spina bifida oio:hasExactSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele spinal meningocele NCIT:C101209 MONDO:0008449 spina bifida oio:hasExactSynonym rachischisis rachischisis Rachischisis NCIT:C101214 Spina Bifida rachischisis NCIT:C101214 MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida Spina Bifida NCIT:C101214 Spina Bifida spina bifida NCIT:C101214 MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida SPINA BIFIDA NCIT:C101214 Spina Bifida spina bifida NCIT:C101214 @@ -13430,8 +13240,8 @@ MONDO:0008538 temporal arteritis oio:hasExactSynonym Giant Cell Arteritis NCI MONDO:0008538 temporal arteritis oio:hasExactSynonym giant cell arteritis giant cell arteritis Giant Cell Arteritis NCIT:C35065 Temporal Arteritis giant cell arteritis NCIT:C35065 MONDO:0008538 temporal arteritis oio:hasExactSynonym temporal arteritis temporal arteritis Temporal Arteritis NCIT:C35065 Temporal Arteritis temporal arteritis NCIT:C35065 MONDO:0008541 spermatic cord torsion oio:hasExactSynonym testicular torsion testicular torsion Testicular Torsion NCIT:C26885 Testicular Torsion testicular torsion NCIT:C26885 -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym thanatophoric dysplasia, type 1 thanatophoric dysplasia, type 1 Thanatophoric Dysplasia, Type 1 NCIT:C98583 Type 1 Thanatophoric Dysplasia thanatophoric dysplasia, type 1 NCIT:C98583 MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym type 1 thanatophoric dysplasia type 1 thanatophoric dysplasia Type 1 Thanatophoric Dysplasia NCIT:C98583 Type 1 Thanatophoric Dysplasia type 1 thanatophoric dysplasia NCIT:C98583 MONDO:0008547 thanatophoric dysplasia type 2 oio:hasExactSynonym thanatophoric dysplasia, type 2 thanatophoric dysplasia, type 2 Thanatophoric Dysplasia, Type 2 NCIT:C98584 Type 2 Thanatophoric Dysplasia thanatophoric dysplasia, type 2 NCIT:C98584 @@ -13472,7 +13282,6 @@ MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter neoplasm malig MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter tumor malignant ureter tumor Malignant Ureter Tumor NCIT:C7543 Malignant Ureter Neoplasm malignant ureter tumor NCIT:C7543 MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral neoplasm malignant ureteral neoplasm Malignant Ureteral Neoplasm NCIT:C7543 Malignant Ureter Neoplasm malignant ureteral neoplasm NCIT:C7543 MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral tumor malignant ureteral tumor Malignant Ureteral Tumor NCIT:C7543 Malignant Ureter Neoplasm malignant ureteral tumor NCIT:C7543 -MONDO:0008627 ureter cancer oio:hasExactSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma ureter cancer NCIT:C8993 MONDO:0008628 ureterocele oio:hasExactSynonym ureterocele ureterocele Ureterocele NCIT:C123159 Ureterocele ureterocele NCIT:C123159 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome Muckle-Wells syndrome NCIT:C119054 MONDO:0008638 varicose disease oio:hasExactSynonym varix varix Varix NCIT:C35114 Varicose Vein varix NCIT:C35114 @@ -13513,14 +13322,13 @@ MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome Denys-Drash syndrome Denys-Drash Syndrome NCIT:C84668 Denys-Drash Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Denys-Drash syndrome NCIT:C84668 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome 4p deletion syndrome 4p Deletion Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome 4p deletion syndrome NCIT:C35528 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wolf-Hirschhorn syndrome NCIT:C35528 -MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 +MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym WPW NCIT:C35132 Wolff-Parkinson-White Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WPW NCIT:C35132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia NCIT:C84525 Abetalipoproteinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL abetalipoproteinemia NCIT:C84525 MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym Langer-Saldino achondrogenesis Langer-Saldino achondrogenesis Langer-Saldino Achondrogenesis NCIT:C3816 Type II Achondrogenesis Langer-Saldino achondrogenesis NCIT:C3816 MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym type II achondrogenesis type II achondrogenesis Type II Achondrogenesis NCIT:C3816 Type II Achondrogenesis type II achondrogenesis NCIT:C3816 -MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal Syndrome NCIT:C84531 Acrocallosal Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrocallosal syndrome NCIT:C84531 MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym acrodermatitis enteropathica acrodermatitis enteropathica Acrodermatitis Enteropathica NCIT:C128802 Acrodermatitis Enteropathica http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrodermatitis enteropathica NCIT:C128802 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym acyl-CoA dehydrogenase, medium-chain deficiency acyl-CoA dehydrogenase, medium-chain deficiency Acyl-CoA Dehydrogenase, Medium-Chain Deficiency NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency acyl-CoA dehydrogenase, medium-chain deficiency NCIT:C84538 @@ -13594,8 +13402,6 @@ MONDO:0008876 Bloom syndrome oio:hasExactSynonym Bloom syndrome Bloom syndrome MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's Disease NCIT:C35070 Buerger Disease Buerger's Disease NCIT:C35070 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease Buerger's disease Buerger's Disease NCIT:C35070 Buerger Disease Buerger's disease NCIT:C35070 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans thromboangiitis obliterans Thromboangiitis Obliterans NCIT:C35070 Buerger Disease thromboangiitis obliterans NCIT:C35070 -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung cancer of lung Cancer of Lung NCIT:C4878 Lung Carcinoma cancer of lung NCIT:C4878 -MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma lung cancer NCIT:C4878 MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung neoplasm malignant lung neoplasm Malignant Lung Neoplasm NCIT:C7377 Malignant Lung Neoplasm malignant lung neoplasm NCIT:C7377 MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung tumor malignant lung tumor Malignant Lung Tumor NCIT:C7377 Malignant Lung Neoplasm malignant lung tumor NCIT:C7377 MONDO:0008903 lung cancer oio:hasExactSynonym malignant neoplasm of lung malignant neoplasm of lung Malignant Neoplasm of Lung NCIT:C7377 Malignant Lung Neoplasm malignant neoplasm of lung NCIT:C7377 @@ -13636,7 +13442,6 @@ MONDO:0008988 citrullinemia type I oio:hasExactSynonym CTLN1 NCIT:C150601 Cit MONDO:0009003 achromatopsia 2 oio:hasExactSynonym achromatopsia 2 achromatopsia 2 Achromatopsia 2 NCIT:C168757 Achromatopsia 2 achromatopsia 2 NCIT:C168757 MONDO:0009003 achromatopsia 2 oio:hasExactSynonym ACHM2 NCIT:C168757 Achromatopsia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACHM2 NCIT:C168757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy band keratopathy Band Keratopathy NCIT:C118765 Band Keratopathy band keratopathy NCIT:C118765 -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD NCIT:C27855 Multicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD NCIT:C27855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular Corneal Dystrophy NCIT:C34793 Macular Corneal Dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy NCIT:C34793 MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym agenesis of corpus callosum agenesis of corpus callosum Agenesis of Corpus Callosum NCIT:C98905 Corpus Callosum Agenesis agenesis of corpus callosum NCIT:C98905 MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym corpus callosum agenesis corpus callosum agenesis Corpus Callosum Agenesis NCIT:C98905 Corpus Callosum Agenesis corpus callosum agenesis NCIT:C98905 @@ -13753,10 +13558,9 @@ MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann's synd MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann-Streiff syndrome Hallermann-Streiff syndrome Hallermann-Streiff Syndrome NCIT:C84746 Hallermann Syndrome Hallermann-Streiff syndrome NCIT:C84746 MONDO:0009319 pantothenate kinase-associated neurodegeneration oio:hasExactSynonym pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration Pantothenate Kinase-Associated Neurodegeneration NCIT:C84988 Pantothenate Kinase-Associated Neurodegeneration pantothenate kinase-associated neurodegeneration NCIT:C84988 MONDO:0009324 Hartnup disease oio:hasExactSynonym Hartnup disease Hartnup disease Hartnup Disease NCIT:C84748 Hartnup Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hartnup disease NCIT:C84748 -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant Hemangiopericytoma, malignant NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 +MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma malignant hemangiopericytoma NCIT:C4301 -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma malignant hemangiopericytoma NCIT:C8090 MONDO:0009332 congenital hematological disorder oio:hasExactSynonym congenital hematological disorder congenital hematological disorder Congenital Hematological Disorder NCIT:C104003 Congenital Hematological Disorder congenital hematological disorder NCIT:C104003 MONDO:0009341 Mowat-Wilson syndrome oio:hasExactSynonym Mowat-Wilson syndrome Mowat-Wilson syndrome Mowat-Wilson Syndrome NCIT:C74999 Mowat-Wilson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Mowat-Wilson syndrome NCIT:C74999 MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym classical Hodgkin lymphoma classical Hodgkin lymphoma Classical Hodgkin Lymphoma NCIT:C7164 Classic Hodgkin Lymphoma classical Hodgkin lymphoma NCIT:C7164 @@ -13786,7 +13590,6 @@ MONDO:0009412 scurvy oio:hasExactSynonym vitamin C deficiency vitamin C deficie MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym Sanjad-Sakati syndrome Sanjad-Sakati syndrome Sanjad-Sakati Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome Sanjad-Sakati syndrome NCIT:C133727 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym hypoparathyroidism-retardation-dysmorphism syndrome hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome hypoparathyroidism-retardation-dysmorphism syndrome NCIT:C133727 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym HRDS NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HRDS NCIT:C133727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym SSS NCIT:C62244 Sick Sinus Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SSS NCIT:C62244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypercalciuric hypophosphatemic rickets hypercalciuric hypophosphatemic rickets Hypercalciuric Hypophosphatemic Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria hypercalciuric hypophosphatemic rickets NCIT:C131450 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypophosphatemic hypercalciuric rickets hypophosphatemic hypercalciuric rickets Hypophosphatemic Hypercalciuric Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria hypophosphatemic hypercalciuric rickets NCIT:C131450 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym HHRH NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHRH NCIT:C131450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13817,15 +13620,14 @@ MONDO:0009499 Krabbe disease oio:hasExactSynonym globoid cell leukodystrophy gl MONDO:0009499 Krabbe disease oio:hasExactSynonym Krabbe disease Krabbe disease Krabbe Disease NCIT:C61254 Krabbe Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Krabbe disease NCIT:C61254 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym Landau-Kleffner syndrome Landau-Kleffner syndrome Landau-Kleffner Syndrome NCIT:C84806 Landau-Kleffner Syndrome Landau-Kleffner syndrome NCIT:C84806 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym acquired epileptic aphasia acquired epileptic aphasia Acquired Epileptic Aphasia NCIT:C84806 Landau-Kleffner Syndrome acquired epileptic aphasia NCIT:C84806 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome Laurence-Moon syndrome NCIT:C118632 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome Laurence-Moon syndrome NCIT:C34760 MONDO:0009515 Norum disease oio:hasExactSynonym lecithin acyltransferase deficiency lecithin acyltransferase deficiency Lecithin Acyltransferase Deficiency NCIT:C84813 Lecithin Acyltransferase Deficiency lecithin acyltransferase deficiency NCIT:C84813 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome Donohue Syndrome NCIT:C84676 Donohue Syndrome Donohue syndrome NCIT:C84676 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Leprechaunism NCIT:C84676 Donohue Syndrome Leprechaunism NCIT:C84676 MONDO:0009517 Donohue syndrome oio:hasExactSynonym leprechaunism leprechaunism Leprechaunism NCIT:C84676 Donohue Syndrome leprechaunism NCIT:C84676 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym acute disseminated Langerhans cell histiocytosis acute disseminated Langerhans cell histiocytosis Acute Disseminated Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease acute disseminated Langerhans cell histiocytosis NCIT:C3160 -MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 +MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym multifocal multisystem Langerhans cell histiocytosis multifocal multisystem Langerhans cell histiocytosis Multifocal Multisystem Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease multifocal multisystem Langerhans cell histiocytosis NCIT:C3160 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl Glutaric Aciduria NCIT:C84523 HMG-CoA Lyase Deficiency 3-OH 3-Methyl glutaric aciduria NCIT:C84523 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NCIT:C84523 @@ -13859,7 +13661,6 @@ MONDO:0009613 methylmalonic aciduria, cblA type oio:hasExactSynonym methylmalon MONDO:0009614 methylmalonic aciduria, cblB type oio:hasExactSynonym methylmalonic aciduria, cblB type methylmalonic aciduria, cblB type Methylmalonic Aciduria, cblB Type NCIT:C142172 Methylmalonic Aciduria, cblB Type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria, cblB type NCIT:C142172 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome Nijmegen Breakage Syndrome NCIT:C4692 Nijmegen Breakage Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Nijmegen breakage syndrome NCIT:C4692 MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 NCIT:C129306 -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis Syndrome NCIT:C165501 Aicardi-Goutieres Syndrome 1 Pseudotoxoplasmosis syndrome NCIT:C165501 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome Galloway-Mowat syndrome Galloway-Mowat Syndrome NCIT:C132195 Galloway-Mowat Syndrome Galloway-Mowat syndrome NCIT:C132195 MONDO:0009637 inborn mitochondrial myopathy oio:hasExactSynonym mitochondrial myopathy mitochondrial myopathy Mitochondrial Myopathy NCIT:C101328 Mitochondrial Myopathy mitochondrial myopathy NCIT:C101328 MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 oio:hasExactSynonym monosomy 7 of bone marrow monosomy 7 of bone marrow Monosomy 7 of Bone Marrow NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 monosomy 7 of bone marrow NCIT:C176908 @@ -13913,7 +13714,6 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009688 myasthenia gravis oio:hasExactSynonym myasthenia gravis myasthenia gravis Myasthenia Gravis NCIT:C60989 Myasthenia Gravis myasthenia gravis NCIT:C60989 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym presynaptic congenital myasthenic syndrome 6 presynaptic congenital myasthenic syndrome 6 Presynaptic Congenital Myasthenic Syndrome 6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 presynaptic congenital myasthenic syndrome 6 NCIT:C132292 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym CMS6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS6 NCIT:C132292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis fungoides NCIT:C3246 Mycosis Fungoides mycosis fungoides NCIT:C3246 MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis Fungoides NCIT:C3246 Mycosis Fungoides mycosis fungoides NCIT:C3246 MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13921,15 +13721,15 @@ MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metap MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metaplasia NCIT:C2862 Primary Myelofibrosis Agnogenic myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic bone marrow fibrosis idiopathic bone marrow fibrosis Idiopathic Bone Marrow Fibrosis NCIT:C2862 Primary Myelofibrosis idiopathic bone marrow fibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic myelofibrosis idiopathic myelofibrosis Idiopathic Myelofibrosis NCIT:C2862 Primary Myelofibrosis idiopathic myelofibrosis NCIT:C2862 -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with myeloid metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 +MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary Myelofibrosis NCIT:C2862 Primary Myelofibrosis primary myelofibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary myelofibrosis NCIT:C2862 Primary Myelofibrosis primary myelofibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym AMM NCIT:C2862 Primary Myelofibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMM NCIT:C2862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple Myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma/plasma cell myeloma multiple myeloma/plasma cell myeloma Multiple Myeloma/Plasma Cell Myeloma NCIT:C3242 Multiple Myeloma multiple myeloma/plasma cell myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma myeloma Myeloma NCIT:C3242 Multiple Myeloma myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma, plasma cell, malignant myeloma, plasma cell, malignant MYELOMA, PLASMA CELL, MALIGNANT NCIT:C3242 Multiple Myeloma myeloma, plasma cell, malignant NCIT:C3242 @@ -13957,7 +13757,6 @@ MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NCIT:C74998 Nephron MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym congenital nephrotic syndrome - Finnish type congenital nephrotic syndrome - Finnish type Congenital Nephrotic Syndrome - Finnish Type NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated congenital nephrotic syndrome - Finnish type NCIT:C122795 MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym nephrotic syndrome - NPHS1 associated nephrotic syndrome - NPHS1 associated Nephrotic Syndrome - NPHS1 Associated NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated nephrotic syndrome - NPHS1 associated NCIT:C122795 MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym congenital nephrotic syndrome - diffuse mesangial sclerosis congenital nephrotic syndrome - diffuse mesangial sclerosis Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis congenital nephrotic syndrome - diffuse mesangial sclerosis NCIT:C121198 -MONDO:0009735 Netherton syndrome oio:hasExactSynonym NS NCIT:C135176 Nuclear Cataract http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NS NCIT:C135176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009735 Netherton syndrome oio:hasExactSynonym Netherton syndrome Netherton syndrome Netherton Syndrome NCIT:C84922 Netherton Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Netherton syndrome NCIT:C84922 MONDO:0009737 galactosialidosis oio:hasExactSynonym Goldberg syndrome Goldberg syndrome Goldberg Syndrome NCIT:C129928 Galactosialidosis Goldberg syndrome NCIT:C129928 MONDO:0009737 galactosialidosis oio:hasExactSynonym galactosialidosis galactosialidosis Galactosialidosis NCIT:C129928 Galactosialidosis galactosialidosis NCIT:C129928 @@ -13989,7 +13788,6 @@ MONDO:0009761 cystic hygroma oio:hasExactSynonym hygroma hygroma Hygroma NCIT:C MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym gyrate atrophy gyrate atrophy Gyrate Atrophy NCIT:C84744 Gyrate Atrophy gyrate atrophy NCIT:C84744 MONDO:0009797 orotic aciduria oio:hasExactSynonym Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria Hereditary Orotic Aciduria NCIT:C98944 MONDO:0009804 osteogenesis imperfecta type 3 oio:hasExactSynonym osteogenesis imperfecta type III osteogenesis imperfecta type III Osteogenesis Imperfecta Type III NCIT:C99002 Osteogenesis Imperfecta Type III osteogenesis imperfecta type III NCIT:C99002 -MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma osteosarcoma NCIT:C6585 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteogenic sarcoma osteogenic sarcoma Osteogenic Sarcoma NCIT:C9145 Osteosarcoma osteogenic sarcoma NCIT:C9145 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma osteosarcoma NCIT:C9145 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma, malignant osteosarcoma, malignant OSTEOSARCOMA, MALIGNANT NCIT:C9145 Osteosarcoma osteosarcoma, malignant NCIT:C9145 @@ -14013,9 +13811,6 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym osteopetr MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym OPTB3 NCIT:C118438 Osteopetrosis with Renal Tubular Acidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OPTB3 NCIT:C118438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym primary hyperoxaluria type I primary hyperoxaluria type I Primary Hyperoxaluria Type I NCIT:C123212 Primary Hyperoxaluria Type I primary hyperoxaluria type I NCIT:C123212 MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym primary hyperoxaluria type II primary hyperoxaluria type II Primary Hyperoxaluria Type II NCIT:C123213 Primary Hyperoxaluria Type II primary hyperoxaluria type II NCIT:C123213 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym cancer of pancreas cancer of pancreas Cancer of Pancreas NCIT:C3850 Pancreatic Carcinoma cancer of pancreas NCIT:C3850 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreas cancer pancreas cancer Pancreas Cancer NCIT:C3850 Pancreatic Carcinoma pancreas cancer NCIT:C3850 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreatic cancer pancreatic cancer Pancreatic Cancer NCIT:C3850 Pancreatic Carcinoma pancreatic cancer NCIT:C3850 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of pancreas malignant neoplasm of pancreas Malignant Neoplasm of Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm malignant neoplasm of pancreas NCIT:C9005 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of the pancreas malignant neoplasm of the pancreas Malignant Neoplasm of the Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm malignant neoplasm of the pancreas NCIT:C9005 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant pancreatic neoplasm malignant pancreatic neoplasm Malignant Pancreatic Neoplasm NCIT:C9005 Malignant Pancreatic Neoplasm malignant pancreatic neoplasm NCIT:C9005 @@ -14082,8 +13877,8 @@ MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym 1 Alpha-h MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym pseudo vitamin-D deficient rickets pseudo vitamin-D deficient rickets Pseudo Vitamin-D Deficient Rickets NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency pseudo vitamin-D deficient rickets NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym selective 1-alpha, 25-hydroxyvitamin D3 deficiency selective 1-alpha, 25-hydroxyvitamin D3 deficiency Selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D 1 Alpha-Hydroxylase deficiency vitamin D 1 Alpha-Hydroxylase deficiency Vitamin D 1 Alpha-Hydroxylase Deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D 1 Alpha-Hydroxylase deficiency NCIT:C131073 -MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-Dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 +MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym VDDR1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VDDR1 NCIT:C131073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum NCIT:C85036 MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym Escobar syndrome Escobar syndrome Escobar Syndrome NCIT:C101039 Escobar Syndrome Escobar syndrome NCIT:C101039 @@ -14092,7 +13887,6 @@ MONDO:0009933 congenital pulmonary lymphangiectasia oio:hasExactSynonym congeni MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia alveolar capillary dysplasia Alveolar Capillary Dysplasia NCIT:C98809 Alveolar Capillary Dysplasia alveolar capillary dysplasia NCIT:C98809 MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary veno-occlusive disease pulmonary veno-occlusive disease Pulmonary Veno-Occlusive Disease NCIT:C85039 Pulmonary Veno-Occlusive Disease pulmonary veno-occlusive disease NCIT:C85039 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis NCIT:C131187 Pycnodysostosis pycnodysostosis NCIT:C131187 -MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym Hypophosphatasia NCIT:C26798 Hypophosphatasia Hypophosphatasia NCIT:C26798 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease pyruvate carboxylase deficiency disease Pyruvate Carboxylase Deficiency Disease NCIT:C85040 Pyruvate Carboxylase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyruvate carboxylase deficiency disease NCIT:C85040 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency NCIT:C99037 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic Anemia due to pyruvate Kinase deficiency hemolytic Anemia due to pyruvate Kinase deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency hemolytic Anemia due to pyruvate Kinase deficiency NCIT:C99037 @@ -14109,8 +13903,8 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bo MONDO:0009990 Revesz syndrome oio:hasExactSynonym DKCA5 NCIT:C152064 Revesz Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DKCA5 NCIT:C152064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma NCIT:C8971 Embryonal Rhabdomyosarcoma embryonal rhabdomyosarcoma NCIT:C8971 MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym ERMS NCIT:C8971 Embryonal Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERMS NCIT:C8971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 +MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym monomorphous round cell rhabdomyosarcoma monomorphous round cell rhabdomyosarcoma Monomorphous Round Cell Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma monomorphous round cell rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym ARMS arms ARMS NCIT:C3749 Alveolar Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMS NCIT:C3749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome Rothmund-Thomson Syndrome NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome NCIT:C3335 @@ -14138,7 +13932,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym Canavan disease Canavan disea MONDO:0010088 mucosulfatidosis oio:hasExactSynonym multiple sulfatase deficiency disease multiple sulfatase deficiency disease Multiple Sulfatase Deficiency Disease NCIT:C84908 Multiple Sulfatase Deficiency Disease multiple sulfatase deficiency disease NCIT:C84908 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay Sachs Disease NCIT:C85184 Tay-Sachs Disease Tay Sachs Disease NCIT:C85184 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay-Sachs disease Tay-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Tay-Sachs disease NCIT:C85184 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor testicular germ cell tumor NCIT:C6552 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of testis germ cell neoplasm of testis Germ Cell Neoplasm of Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell neoplasm of testis NCIT:C8591 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of the testis germ cell neoplasm of the testis Germ Cell Neoplasm of the Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell neoplasm of the testis NCIT:C8591 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ Cell Tumor of Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell tumor of testis NCIT:C8591 @@ -14208,7 +14001,6 @@ MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym XP-G NCIT:C39 MONDO:0010217 de Sanctis-Cacchione syndrome oio:hasExactSynonym de Sanctis-Cacchione syndrome de Sanctis-Cacchione syndrome De Sanctis-Cacchione Syndrome NCIT:C84666 De Sanctis-Cacchione Syndrome de Sanctis-Cacchione syndrome NCIT:C84666 MONDO:0010229 alopecia, congenital oio:hasExactSynonym congenital alopecia congenital alopecia Congenital Alopecia NCIT:C35790 Congenital Alopecia congenital alopecia NCIT:C35790 MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked adrenal hypoplasia congenita NCIT:C123725 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym congenital adrenal hypoplasia congenital adrenal hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal hypoplasia NCIT:C35261 MONDO:0010281 Danon disease oio:hasExactSynonym glycogen storage disease type IIb glycogen storage disease type IIb Glycogen Storage Disease Type IIb NCIT:C84735 Glycogen Storage Disease Type IIb glycogen storage disease type IIb NCIT:C84735 MONDO:0010281 Danon disease oio:hasExactSynonym Danon disease Danon disease Danon Disease NCIT:C84735 Glycogen Storage Disease Type IIb http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Danon disease NCIT:C84735 MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym MECP2 duplication syndrome MECP2 duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome MECP2 duplication syndrome NCIT:C126747 @@ -14234,8 +14026,8 @@ MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's Sex-l MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's X-linked agammaglobulinemia Bruton's X-linked agammaglobulinemia Bruton's X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia Bruton's X-linked agammaglobulinemia NCIT:C3822 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym X-linked agammaglobulinemia X-linked agammaglobulinemia X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia X-linked agammaglobulinemia NCIT:C3822 MONDO:0010434 synovial sarcoma oio:hasExactSynonym sarcoma, synovial, malignant sarcoma, synovial, malignant SARCOMA, SYNOVIAL, MALIGNANT NCIT:C3400 Synovial Sarcoma sarcoma, synovial, malignant NCIT:C3400 -MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial Sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 +MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia NCIT:C126336 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XMEN NCIT:C126336 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome Ogden Syndrome NCIT:C188215 Ogden Syndrome Ogden syndrome NCIT:C188215 @@ -14265,7 +14057,6 @@ MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia choroideremia Cho MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome Gareis-Mason Syndrome NCIT:C129930 MASA Syndrome Gareis-Mason syndrome NCIT:C129930 MONDO:0010559 MASA syndrome oio:hasExactSynonym MASA syndrome MASA syndrome MASA Syndrome NCIT:C129930 MASA Syndrome MASA syndrome NCIT:C129930 MONDO:0010559 MASA syndrome oio:hasExactSynonym spastic paraplegia, X-linked spastic paraplegia, X-linked Spastic Paraplegia, X-linked NCIT:C129930 MASA Syndrome spastic paraplegia, X-linked NCIT:C129930 -MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym CLS NCIT:C62578 Capillary Leak Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLS NCIT:C62578 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry Syndrome NCIT:C84643 Coffin-Lowry Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Lowry syndrome NCIT:C84643 MONDO:0010562 colonic atresia oio:hasExactSynonym atresia of colon atresia of colon Atresia of Colon NCIT:C101024 Colon Atresia atresia of colon NCIT:C101024 MONDO:0010562 colonic atresia oio:hasExactSynonym colon atresia colon atresia Colon Atresia NCIT:C101024 Colon Atresia colon atresia NCIT:C101024 @@ -14293,10 +14084,9 @@ MONDO:0010604 hemophilia B oio:hasExactSynonym hereditary Factor IX deficiency MONDO:0010604 hemophilia B oio:hasExactSynonym hemophilia B hemophilia B Hemophilia B NCIT:C26721 Hemophilia B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hemophilia B NCIT:C26721 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-Linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism X-linked hypoparathyroidism NCIT:C131079 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism X-linked hypoparathyroidism NCIT:C131079 -MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-Linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 +MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked ichthyosis X-linked ichthyosis X-Linked Ichthyosis NCIT:C84779 X-Linked Ichthyosis X-linked ichthyosis NCIT:C84779 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome hyperimmunoglobulin M syndrome NCIT:C3990 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym Duncan disease Duncan disease Duncan Disease NCIT:C61246 X-Linked Lymphoproliferative Syndrome Duncan disease NCIT:C61246 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome NCIT:C61246 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-Linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome NCIT:C61246 @@ -14328,7 +14118,6 @@ MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym Peliza MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS pais PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym juvenile X-linked retinoschisis juvenile X-linked retinoschisis Juvenile X-Linked Retinoschisis NCIT:C75483 Juvenile X-Linked Retinoschisis juvenile X-linked retinoschisis NCIT:C75483 -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS NCIT:C3335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Rett syndrome Rett Syndrome NCIT:C75488 Rett Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome NCIT:C75488 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel Syndrome NCIT:C131002 Simpson-Golabi-Behmel Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Simpson-Golabi-Behmel syndrome NCIT:C131002 MONDO:0010735 Kennedy disease oio:hasExactSynonym Kennedy disease Kennedy disease Kennedy Disease NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 Kennedy disease NCIT:C85233 @@ -14421,7 +14210,6 @@ MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin D resistant rickets vitamin D resistant rickets Vitamin D Resistant Rickets NCIT:C131076 Vitamin D Dependent Rickets 2b vitamin D resistant rickets NCIT:C131076 MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 TIMOTHY syndrome NCIT:C142894 MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Timothy syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 Timothy syndrome NCIT:C142894 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS NCIT:C50783 Tricuspid Valve Stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS NCIT:C50783 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDGId NCIT:C126870 Congenital Disorder of Glycosylation Type Id CDGId NCIT:C126870 MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Id congenital disorder of glycosylation type Id Congenital Disorder of Glycosylation Type Id NCIT:C126870 Congenital Disorder of Glycosylation Type Id congenital disorder of glycosylation type Id NCIT:C126870 MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym pulmonary blastoma of childhood pulmonary blastoma of childhood Pulmonary Blastoma of Childhood NCIT:C5669 Pleuropulmonary Blastoma pulmonary blastoma of childhood NCIT:C5669 @@ -14437,8 +14225,8 @@ MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym MPS9 NCIT:C129 MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 1B Peroxisome Biogenesis Disorder 1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder 1B NCIT:C155749 MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth Disease Type 4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease type 4C NCIT:C129864 MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym CMT4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT4C NCIT:C129864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute bilineal leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 +MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 MONDO:0011122 obesity disorder oio:hasExactSynonym obesity obesity Obesity NCIT:C3283 Obesity obesity NCIT:C3283 MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym trichothiodystrophy 1, photosensitive trichothiodystrophy 1, photosensitive Trichothiodystrophy 1, Photosensitive NCIT:C156433 Trichothiodystrophy 1, Photosensitive trichothiodystrophy 1, photosensitive NCIT:C156433 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Pallister-Killian syndrome Pallister-Killian Syndrome NCIT:C75458 Pallister-Killian Syndrome Pallister-Killian syndrome NCIT:C75458 @@ -14476,7 +14264,6 @@ MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of ov MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of the ovary germ cell tumor of the ovary Germ Cell Tumor of the Ovary NCIT:C3873 Ovarian Germ Cell Tumor germ cell tumor of the ovary NCIT:C3873 MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell neoplasm ovarian germ cell neoplasm Ovarian Germ Cell Neoplasm NCIT:C3873 Ovarian Germ Cell Tumor ovarian germ cell neoplasm NCIT:C3873 MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor ovarian germ cell tumor NCIT:C3873 -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor ovarian germ cell tumor NCIT:C8588 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid papillary Microcarcinoma of the thyroid Papillary Microcarcinoma of the Thyroid NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary Microcarcinoma of the thyroid NCIT:C46004 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid gland papillary Microcarcinoma of the thyroid gland Papillary Microcarcinoma of the Thyroid Gland NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary Microcarcinoma of the thyroid gland NCIT:C46004 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary thyroid Microcarcinoma papillary thyroid Microcarcinoma Papillary Thyroid Microcarcinoma NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary thyroid Microcarcinoma NCIT:C46004 @@ -14502,7 +14289,6 @@ MONDO:0011424 Carney triad oio:hasExactSynonym Carney triad Carney triad Carney MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis Juvenile idiopathic arthritis NCIT:C114357 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile idiopathic arthritis juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis juvenile idiopathic arthritis NCIT:C114357 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym JIA NCIT:C114357 Juvenile Idiopathic Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JIA NCIT:C114357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile rheumatoid arthritis juvenile rheumatoid arthritis Juvenile Rheumatoid Arthritis NCIT:C27179 Juvenile Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#DEPRECATED juvenile rheumatoid arthritis NCIT:C27179 MONDO:0011438 acne oio:hasExactSynonym acne acne Acne NCIT:C27195 Acne acne NCIT:C27195 MONDO:0011438 acne oio:hasExactSynonym acne vulgaris acne vulgaris Acne Vulgaris NCIT:C27195 Acne acne vulgaris NCIT:C27195 MONDO:0011439 spinocerebellar ataxia type 12 oio:hasExactSynonym spinocerebellar ataxia type 12 spinocerebellar ataxia type 12 Spinocerebellar Ataxia Type 12 NCIT:C154316 Spinocerebellar Ataxia Type 12 spinocerebellar ataxia type 12 NCIT:C154316 @@ -14522,8 +14308,8 @@ MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym POT MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 oio:hasExactSynonym catecholaminergic polymorphic ventricular tachycardia type 1 catecholaminergic polymorphic ventricular tachycardia type 1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 NCIT:C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 catecholaminergic polymorphic ventricular tachycardia type 1 NCIT:C123414 MONDO:0011493 Stickler syndrome type 2 oio:hasExactSynonym Stickler syndrome type II Stickler syndrome type II Stickler Syndrome Type II NCIT:C74985 Stickler Syndrome Type 2 Stickler syndrome type II NCIT:C74985 MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym cortisone reductase deficiency type 1 cortisone reductase deficiency type 1 Cortisone Reductase Deficiency Type 1 NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency cortisone reductase deficiency type 1 NCIT:C131849 -MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-Phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 +MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym Bohring-Opitz syndrome Bohring-Opitz syndrome Bohring-Opitz Syndrome NCIT:C131533 Bohring-Opitz Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bohring-Opitz syndrome NCIT:C131533 MONDO:0011514 tricuspid atresia oio:hasExactSynonym congenital atresia of tricuspid valve congenital atresia of tricuspid valve Congenital Atresia of Tricuspid Valve NCIT:C85202 Tricuspid Valve Atresia congenital atresia of tricuspid valve NCIT:C85202 MONDO:0011514 tricuspid atresia oio:hasExactSynonym tricuspid atresia tricuspid atresia Tricuspid Atresia NCIT:C85202 Tricuspid Valve Atresia tricuspid atresia NCIT:C85202 @@ -14542,13 +14328,12 @@ MONDO:0011612 glycine encephalopathy oio:hasExactSynonym glycine encephalopathy MONDO:0011628 propionic acidemia oio:hasExactSynonym propionic acidemia propionic acidemia Propionic Acidemia NCIT:C85030 Propionic Acidemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL propionic acidemia NCIT:C85030 MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym ALS21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS21 NCIT:C168755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis pars planitis NCIT:C34903 -MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis pars planitis NCIT:C35110 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym Phelan-McDermid syndrome Phelan-McDermid syndrome Phelan-McDermid Syndrome NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Phelan-McDermid syndrome NCIT:C157124 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym PHMDS NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHMDS NCIT:C157124 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft-part sarcoma alveolar soft-part sarcoma Alveolar soft-part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft-part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym ASPS NCIT:C3750 Alveolar Soft Part Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASPS NCIT:C3750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym adult alveolar soft Part sarcoma adult alveolar soft Part sarcoma Adult Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma adult alveolar soft Part sarcoma NCIT:C7943 @@ -14617,7 +14402,6 @@ MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD NCIT:C53970 Osteofibrous Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD NCIT:C53970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent Ductus Arteriosus NCIT:C84492 Patent Ductus Arteriosus patent ductus arteriosus NCIT:C84492 MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C84492 Patent Ductus Arteriosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA NCIT:C84492 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C9120 Pancreatic Ductal Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA NCIT:C9120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid Hurthle cell carcinoma of the thyroid Hurthle Cell Carcinoma of the Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of the thyroid NCIT:C4946 MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid gland Hurthle cell carcinoma of the thyroid gland Hurthle Cell Carcinoma of the Thyroid Gland NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of the thyroid gland NCIT:C4946 MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of thyroid Hurthle cell carcinoma of thyroid Hurthle Cell Carcinoma of Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of thyroid NCIT:C4946 @@ -14639,13 +14423,12 @@ MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym Niemann-Pick di MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym type C2 Niemann-Pick disease type C2 Niemann-Pick disease Type C2 Niemann-Pick Disease NCIT:C126865 Niemann-Pick Disease, Type C2 type C2 Niemann-Pick disease NCIT:C126865 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym Tubulointerstitial nephritis and uveitis Tubulointerstitial nephritis and uveitis Tubulointerstitial Nephritis and Uveitis NCIT:C123021 Tubulointerstitial Nephritis and Uveitis Tubulointerstitial nephritis and uveitis NCIT:C123021 MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E NCIT:C134953 Charcot-Marie-Tooth Disease Type 2E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2E NCIT:C134953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 Tosti syndrome NCIT:C176939 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair Noonan syndrome-like disorder with loose anagen hair Noonan Syndrome-Like Disorder with Loose Anagen Hair NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome-like disorder with loose anagen hair NCIT:C178129 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelogenous leukemia juvenile chronic myelogenous leukemia Juvenile Chronic Myelogenous Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myelogenous leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myeloid leukemia juvenile chronic myeloid leukemia Juvenile Chronic Myeloid Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myeloid leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelomonocytic leukemia juvenile chronic myelomonocytic leukemia Juvenile Chronic Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myelomonocytic leukemia NCIT:C9233 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 +MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JCML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JCML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JMML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JMML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011913 Alzheimer disease 3 oio:hasExactSynonym Alzheimer's disease 3 Alzheimer's disease 3 Alzheimer's Disease 3 NCIT:C123412 Alzheimer's Disease 3 Alzheimer's disease 3 NCIT:C123412 @@ -14669,7 +14452,6 @@ MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibros MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym DFSP NCIT:C4683 Dermatofibrosarcoma Protuberans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DFSP NCIT:C4683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011959 sweet syndrome oio:hasExactSynonym sweet syndrome sweet syndrome Sweet Syndrome NCIT:C85177 Sweet Syndrome sweet syndrome NCIT:C85177 MONDO:0011962 endometrial cancer oio:hasExactSynonym malignant endometrial neoplasm malignant endometrial neoplasm Malignant Endometrial Neoplasm NCIT:C27815 Malignant Endometrial Neoplasm malignant endometrial neoplasm NCIT:C27815 -MONDO:0011962 endometrial cancer oio:hasExactSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma endometrial cancer NCIT:C7558 MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym CDGIj NCIT:C126874 Congenital Disorder of Glycosylation Type Ij CDGIj NCIT:C126874 MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ij congenital disorder of glycosylation type Ij Congenital Disorder of Glycosylation Type Ij NCIT:C126874 Congenital Disorder of Glycosylation Type Ij congenital disorder of glycosylation type Ij NCIT:C126874 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D oio:hasExactSynonym limb-girdle muscular dystrophy type 2D limb-girdle muscular dystrophy type 2D Limb-Girdle Muscular Dystrophy Type 2D NCIT:C142081 Limb-Girdle Muscular Dystrophy Type 2D limb-girdle muscular dystrophy type 2D NCIT:C142081 @@ -14815,13 +14597,11 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym early infantile epileptic encephalopathy 4 early infantile epileptic encephalopathy 4 Early Infantile Epileptic Encephalopathy 4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 early infantile epileptic encephalopathy 4 NCIT:C162472 MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym DEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym EIEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EIEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma NCIT:C4817 Ewing Sarcoma Ewing sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma Ewing Sarcoma NCIT:C4817 Ewing Sarcoma Ewing sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's sarcoma Ewing's sarcoma Ewing's Sarcoma NCIT:C4817 Ewing Sarcoma Ewing's sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's tumor Ewing's tumor Ewing's Tumor NCIT:C4817 Ewing Sarcoma Ewing's tumor NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym PNET of Thoracopulmonary region PNET of Thoracopulmonary region PNET of Thoracopulmonary Region NCIT:C7542 Askin Tumor PNET of Thoracopulmonary region NCIT:C7542 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraosseous chondrosarcoma extraosseous chondrosarcoma Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma extraosseous chondrosarcoma NCIT:C27502 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraskeletal chondrosarcoma extraskeletal chondrosarcoma Extraskeletal Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma extraskeletal chondrosarcoma NCIT:C27502 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym myxoid extraosseous chondrosarcoma myxoid extraosseous chondrosarcoma Myxoid Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma myxoid extraosseous chondrosarcoma NCIT:C27502 @@ -14844,7 +14624,6 @@ MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hemophilia C MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary Factor XI deficiency hereditary Factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency hereditary Factor XI deficiency NCIT:C84705 MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency hereditary factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency hereditary factor XI deficiency NCIT:C84705 MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency disease hereditary factor XI deficiency disease Hereditary Factor XI Deficiency Disease NCIT:C84705 Hereditary Factor XI Deficiency hereditary factor XI deficiency disease NCIT:C84705 -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudopseudohypoparathyroidism NCIT:C129722 MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome NCIT:C122804 @@ -14904,8 +14683,8 @@ MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactS MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 stem cell syndrome 8p11 stem cell syndrome 8p11 Stem Cell Syndrome NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 8p11 stem cell syndrome NCIT:C84277 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with FGFR1 rearrangement myeloid and lymphoid neoplasms with FGFR1 rearrangement Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement myeloid and lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with FGFR1 rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 -MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 +MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym primary hyperoxaluria type III primary hyperoxaluria type III Primary Hyperoxaluria Type III NCIT:C123214 Primary Hyperoxaluria Type III primary hyperoxaluria type III NCIT:C123214 MONDO:0013333 odontoid hypoplasia oio:hasExactSynonym odontoid hypoplasia odontoid hypoplasia Odontoid Hypoplasia NCIT:C86969 Odontoid Hypoplasia odontoid hypoplasia NCIT:C86969 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency C1q Deficiency NCIT:C119990 C1q Deficiency C1q deficiency NCIT:C119990 @@ -14956,8 +14735,8 @@ MONDO:0013662 Barrett esophagus oio:hasExactSynonym columnar-lined esophagus co MONDO:0013662 Barrett esophagus oio:hasExactSynonym CELLO cello CELLO NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION CELLO NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym BE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration With Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 +MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym NBIA4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA4 NCIT:C175707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym alpha-methylacyl-CoA racemase deficiency alpha-methylacyl-CoA racemase deficiency Alpha-Methylacyl-CoA Racemase Deficiency NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alpha-methylacyl-CoA racemase deficiency NCIT:C119677 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym AMACR NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMACR NCIT:C119677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15030,8 +14809,8 @@ MONDO:0014378 primary ciliary dyskinesia 29 oio:hasExactSynonym CILD29 NCIT:C MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroidism familial Dysalbuminemic hyperthyroidism Familial Dysalbuminemic Hyperthyroidism NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism familial Dysalbuminemic hyperthyroidism NCIT:C131813 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroxinemia familial Dysalbuminemic hyperthyroxinemia Familial Dysalbuminemic Hyperthyroxinemia NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism familial Dysalbuminemic hyperthyroxinemia NCIT:C131813 MONDO:0014452 familial dysfibrinogenemia oio:hasExactSynonym dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia NCIT:C131659 Dysfibrinogenemia dysfibrinogenemia NCIT:C131659 -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CHAI chai CHAI NCIT:C126341 CTLA4 Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHAI NCIT:C126341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014521 progressive myoclonic epilepsy type 7 oio:hasExactSynonym EPM7 NCIT:C142804 Epilepsy, Progressive Myoclonic 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM7 NCIT:C142804 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect oio:hasExactSynonym mUPD14 syndrome mUPD14 syndrome mUPD14 Syndrome NCIT:C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome mUPD14 syndrome NCIT:C120409 @@ -15068,10 +14847,10 @@ MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym familia MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym FIHP NCIT:C94830 Hereditary Isolated Hyperparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FIHP NCIT:C94830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome 48, XXYY Syndrome NCIT:C89801 MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY syndrome 48, XXYY syndrome 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome 48, XXYY syndrome NCIT:C89801 -MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 -MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 +MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 +MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma (WHO grade I) intraneural perineurioma (WHO grade I) Intraneural Perineurioma (WHO Grade I) NCIT:C6911 Intraneural Perineurioma intraneural perineurioma (WHO grade I) NCIT:C6911 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym myelodysplastic syndrome with Excess blasts-2 myelodysplastic syndrome with Excess blasts-2 Myelodysplastic Syndrome with Excess Blasts-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia myelodysplastic syndrome with Excess blasts-2 NCIT:C7168 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym MDS-EB-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-EB-2 NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15081,17 +14860,17 @@ MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu Heavy Chain Disease NCIT:C3892 Mu Heavy Chain Disease mu heavy chain disease NCIT:C3892 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease Alpha heavy chain disease Alpha Heavy Chain Disease NCIT:C3132 Alpha Heavy Chain Disease Alpha heavy chain disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease NCIT:C3132 Alpha Heavy Chain Disease Alpha heavy chain disease NCIT:C3132 -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease Immunoproliferative small intestinal disease Immunoproliferative Small Intestinal Disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean abdominal lymphoma Mediterranean abdominal lymphoma Mediterranean Abdominal Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean abdominal lymphoma NCIT:C3132 -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym IPSID NCIT:C3132 Alpha Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IPSID NCIT:C3132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease NCIT:C3083 Gamma Heavy Chain Disease Franklin disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease Franklin disease Franklin Disease NCIT:C3083 Gamma Heavy Chain Disease Franklin disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin's disease Franklin's disease Franklin's Disease NCIT:C3083 Gamma Heavy Chain Disease Franklin's disease NCIT:C3083 -MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma heavy chain disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 +MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent Aphasia NCIT:C85025 Primary Progressive Nonfluent Aphasia Primary Progressive Nonfluent aphasia NCIT:C85025 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric NET gastric NET Gastric NET NCIT:C95871 Gastric Neuroendocrine Tumor gastric NET NCIT:C95871 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric neuroendocrine tumor gastric neuroendocrine tumor Gastric Neuroendocrine Tumor NCIT:C95871 Gastric Neuroendocrine Tumor gastric neuroendocrine tumor NCIT:C95871 @@ -15135,7 +14914,6 @@ MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid gland carcinoma of thyroid gland Carcinoma of Thyroid Gland NCIT:C4815 Thyroid Gland Carcinoma carcinoma of thyroid gland NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid carcinoma thyroid carcinoma Thyroid Carcinoma NCIT:C4815 Thyroid Gland Carcinoma thyroid carcinoma NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid gland carcinoma thyroid gland carcinoma Thyroid Gland Carcinoma NCIT:C4815 Thyroid Gland Carcinoma thyroid gland carcinoma NCIT:C4815 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune Adrenalitis NCIT:C113814 Autoimmune Primary Adrenal Insufficiency autoimmune adrenalitis NCIT:C113814 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Addison disease Addison Disease NCIT:C26689 Addison's Disease Addison disease NCIT:C26689 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison's disease Addison's disease Addison's Disease NCIT:C26689 Addison's Disease Addison's disease NCIT:C26689 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym primary hypoadrenalism primary hypoadrenalism Primary Hypoadrenalism NCIT:C26689 Addison's Disease primary hypoadrenalism NCIT:C26689 @@ -15260,18 +15038,15 @@ MONDO:0015528 congenital epulis oio:hasExactSynonym congenital epulis congenita MONDO:0015528 congenital epulis oio:hasExactSynonym congenital granular cell tumor congenital granular cell tumor Congenital Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis congenital granular cell tumor NCIT:C4675 MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym juvenile xanthogranuloma juvenile xanthogranuloma Juvenile Xanthogranuloma NCIT:C3451 Juvenile Xanthogranuloma juvenile xanthogranuloma NCIT:C3451 MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym JXG NCIT:C3451 Juvenile Xanthogranuloma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JXG NCIT:C3451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate cell histiocytosis indeterminate cell histiocytosis Indeterminate Cell Histiocytosis NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate cell histiocytosis NCIT:C81767 -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis NCIT:C34792 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis hemophagocytic lymphohistiocytosis NCIT:C34792 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic syndrome hemophagocytic syndrome Hemophagocytic Syndrome NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis hemophagocytic syndrome NCIT:C61276 MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym reactive hemophagocytic lymphohistiocytosis reactive hemophagocytic lymphohistiocytosis Reactive Hemophagocytic Lymphohistiocytosis NCIT:C114471 Macrophage Activation Syndrome reactive hemophagocytic lymphohistiocytosis NCIT:C114471 MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman disease Castleman disease Castleman Disease NCIT:C3056 Castleman Disease Castleman disease NCIT:C3056 MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's disease Castleman's disease Castleman's Disease NCIT:C3056 Castleman Disease Castleman's disease NCIT:C3056 MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's tumor Castleman's tumor Castleman's Tumor NCIT:C3056 Castleman Disease Castleman's tumor NCIT:C3056 @@ -15306,21 +15081,21 @@ MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritone MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritoneal carcinoma primary peritoneal carcinoma Primary Peritoneal Carcinoma NCIT:C40022 Primary Peritoneal Carcinoma primary peritoneal carcinoma NCIT:C40022 MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym PPC NCIT:C40022 Primary Peritoneal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPC NCIT:C40022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym chronic eosinophilic leukemia chronic eosinophilic leukemia Chronic Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified chronic eosinophilic leukemia NCIT:C4563 -MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 +MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym CEL NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEL NCIT:C4563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRB rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 +MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 -MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 +MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 MONDO:0015692 refractory anemia with excess blasts in transformation oio:hasExactSynonym RAEB-T RAEB-t RAEB-T NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAEB-T NCIT:C27080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy Transient Hypogammaglobulinemia of Infancy NCIT:C27071 Transient Hypogammaglobulinemia of Infancy transient hypogammaglobulinemia of infancy NCIT:C27071 MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym THI NCIT:C27071 Transient Hypogammaglobulinemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION THI NCIT:C27071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15363,18 +15138,18 @@ MONDO:0015806 adult intestinal botulism oio:hasExactSynonym adult intestinal to MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym follicular mycosis fungoides follicular mycosis fungoides Follicular Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides follicular mycosis fungoides NCIT:C35685 MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym folliculotropic mycosis fungoides folliculotropic mycosis fungoides Folliculotropic Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides folliculotropic mycosis fungoides NCIT:C35685 MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym mycosis fungoides-associated follicular mucinosis mycosis fungoides-associated follicular mucinosis Mycosis Fungoides-Associated Follicular Mucinosis NCIT:C35685 Folliculotropic Mycosis Fungoides mycosis fungoides-associated follicular mucinosis NCIT:C35685 -MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 +MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym cutaneous Immunocytoma cutaneous Immunocytoma Cutaneous Immunocytoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder cutaneous Immunocytoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of skin marginal zone B cell lymphoma of skin Marginal Zone B Cell Lymphoma of Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder marginal zone B cell lymphoma of skin NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of the skin marginal zone B cell lymphoma of the skin Marginal Zone B Cell Lymphoma of the Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder marginal zone B cell lymphoma of the skin NCIT:C7230 -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-Associated Lymphoid Tissue Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym C-MALT NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION C-MALT NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym PCMZL NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCMZL NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym Crosti's disease Crosti's disease Crosti's Disease NCIT:C7217 Primary Cutaneous Follicle Center Lymphoma Crosti's disease NCIT:C7217 @@ -15385,8 +15160,8 @@ MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym PC MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell neoplasm combined germ cell neoplasm Combined Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor combined germ cell neoplasm NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell tumor combined germ cell tumor Combined Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor combined germ cell tumor NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell neoplasm mixed germ cell neoplasm Mixed Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell neoplasm NCIT:C4290 -MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 +MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of the vagina carcinoma of the vagina Carcinoma of the Vagina NCIT:C3917 Vaginal Carcinoma carcinoma of the vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of vagina carcinoma of vagina Carcinoma of Vagina NCIT:C3917 Vaginal Carcinoma carcinoma of vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym vagina carcinoma vagina carcinoma Vagina Carcinoma NCIT:C3917 Vaginal Carcinoma vagina carcinoma NCIT:C3917 @@ -15401,7 +15176,6 @@ MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget disease of MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of nipple Paget's disease of nipple Paget's Disease of Nipple NCIT:C3301 Nipple Paget Disease Paget's disease of nipple NCIT:C3301 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of the nipple Paget's disease of the nipple Paget's Disease of the Nipple NCIT:C3301 Nipple Paget Disease Paget's disease of the nipple NCIT:C3301 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym nipple Paget's disease nipple Paget's disease Nipple Paget's Disease NCIT:C3301 Nipple Paget Disease nipple Paget's disease NCIT:C3301 -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease Paget's Disease of the Breast NCIT:C47857 MONDO:0015892 growth hormone insensitivity syndrome oio:hasExactSynonym Growth hormone insensitivity syndromes Growth hormone insensitivity syndromes Growth Hormone Insensitivity Syndromes NCIT:C129867 Growth Hormone Insensitivity Syndrome Growth hormone insensitivity syndromes NCIT:C129867 MONDO:0015903 hyperalphalipoproteinemia oio:hasExactSynonym HALP1 NCIT:C128806 Hyperalphalipoproteinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HALP1 NCIT:C128806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym May-Hegglin anomaly May-Hegglin anomaly May-Hegglin Anomaly NCIT:C131646 May-Hegglin Anomaly May-Hegglin anomaly NCIT:C131646 @@ -15419,9 +15193,7 @@ MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynon MONDO:0016001 2-hydroxyglutaric aciduria oio:hasExactSynonym 2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria 2-Hydroxyglutaric Aciduria NCIT:C128187 2-Hydroxyglutaric Aciduria 2-hydroxyglutaric aciduria NCIT:C128187 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal Coumadin syndrome fetal Coumadin syndrome Fetal Coumadin Syndrome NCIT:C98906 Fetal Warfarin Syndrome fetal Coumadin syndrome NCIT:C98906 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal warfarin syndrome fetal warfarin syndrome Fetal Warfarin Syndrome NCIT:C98906 Fetal Warfarin Syndrome fetal warfarin syndrome NCIT:C98906 -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD NCIT:C92727 Alcohol Related Birth Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD NCIT:C92727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis Rasmussen Encephalitis NCIT:C125384 MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen encephalitis Rasmussen encephalitis Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis Rasmussen encephalitis NCIT:C125384 MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym chronic focal encephalitis chronic focal encephalitis Chronic Focal Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis chronic focal encephalitis NCIT:C125384 @@ -15469,7 +15241,6 @@ MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasE MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasExactSynonym isolated hyperCKemia isolated hyperCKemia Isolated HyperCKemia NCIT:C148327 HyperCKmia isolated hyperCKemia NCIT:C148327 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic Gastroenteritis NCIT:C35330 Eosinophilic Gastroenteritis eosinophilic gastroenteritis NCIT:C35330 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym spinocerebellar ataxia type 7 spinocerebellar ataxia type 7 Spinocerebellar Ataxia Type 7 NCIT:C126562 Spinocerebellar Ataxia Type 7 spinocerebellar ataxia type 7 NCIT:C126562 -MONDO:0016167 optic pathway glioma oio:hasExactSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma visual pathway glioma NCIT:C7535 MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of the visual pathway glioma of the visual pathway Glioma of the Visual Pathway NCIT:C8567 Visual Pathway Glioma glioma of the visual pathway NCIT:C8567 MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of visual pathway glioma of visual pathway Glioma of Visual Pathway NCIT:C8567 Visual Pathway Glioma glioma of visual pathway NCIT:C8567 MONDO:0016167 optic pathway glioma oio:hasExactSynonym optic pathway glioma optic pathway glioma Optic Pathway Glioma NCIT:C8567 Visual Pathway Glioma optic pathway glioma NCIT:C8567 @@ -15489,23 +15260,21 @@ MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barre syndro MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barré syndrome Guillain Barré syndrome Guillain Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome Guillain Barré syndrome NCIT:C116345 MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain-Barré syndrome Guillain-Barré syndrome Guillain-Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome Guillain-Barré syndrome NCIT:C116345 MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C116345 Guillain-Barre Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBS NCIT:C116345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C87168 Group B Streptococcal Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBS NCIT:C87168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle -cell hemangioma spindle -cell hemangioma Spindle -Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma spindle -cell hemangioma NCIT:C4754 -MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle cell hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 +MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioma spindle cell hemangioma Spindle Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym SCH SCh SCH NCIT:C4754 Spindle Cell Hemangioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCH NCIT:C4754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 +MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous mesothelioma localized fibrous mesothelioma Localized Fibrous Mesothelioma NCIT:C7634 Solitary Fibrous Tumor localized fibrous mesothelioma NCIT:C7634 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized fibrous tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary fibrous tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym submesothelial fibroma submesothelial fibroma Submesothelial Fibroma NCIT:C7634 Solitary Fibrous Tumor submesothelial fibroma NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym SFT NCIT:C7634 Solitary Fibrous Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SFT NCIT:C7634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis cystinosis Cystinosis NCIT:C2976 Cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cystinosis NCIT:C2976 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita adrenal hypoplasia congenita NCIT:C123725 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia adrenal hypoplasia congenita NCIT:C35261 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal Hypoplasia NCIT:C35261 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal gland hypoplasia congenital adrenal gland hypoplasia Congenital Adrenal Gland Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal gland hypoplasia NCIT:C35261 @@ -15585,7 +15354,6 @@ MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AAP MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AFAP NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFAP NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym HFAS NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFAS NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016367 dermatomyositis oio:hasExactSynonym dermatomyositis dermatomyositis Dermatomyositis NCIT:C26744 Dermatomyositis dermatomyositis NCIT:C26744 -MONDO:0016367 dermatomyositis oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016391 neonatal diabetes mellitus oio:hasExactSynonym congenital diabetes mellitus congenital diabetes mellitus Congenital Diabetes Mellitus NCIT:C99248 Neonatal Diabetes Mellitus congenital diabetes mellitus NCIT:C99248 MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym TSH deficiency TSH deficiency TSH Deficiency NCIT:C113144 Central Hypothyroidism TSH deficiency NCIT:C113144 MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym central hypothyroidism central hypothyroidism Central Hypothyroidism NCIT:C113144 Central Hypothyroidism central hypothyroidism NCIT:C113144 @@ -15633,10 +15401,10 @@ MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of lung congenital cystic adenomatoid malformation of lung Congenital Cystic Adenomatoid Malformation of Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung congenital cystic adenomatoid malformation of lung NCIT:C98892 MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of the lung congenital cystic adenomatoid malformation of the lung Congenital Cystic Adenomatoid Malformation of the Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung congenital cystic adenomatoid malformation of the lung NCIT:C98892 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic mastocytosis systemic mastocytosis Systemic Mastocytosis NCIT:C9235 Systemic Mastocytosis systemic mastocytosis NCIT:C9235 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic RVD arrhythmogenic RVD Arrhythmogenic RVD NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia arrhythmogenic RVD NCIT:C84571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia Arrhythmogenic Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia arrhythmogenic right ventricular dysplasia NCIT:C84571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym right ventricular dysplasia right ventricular dysplasia Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia right ventricular dysplasia NCIT:C84571 @@ -15648,7 +15416,6 @@ MONDO:0016611 lipoblastoma oio:hasExactSynonym embryonic lipoma embryonic lipom MONDO:0016611 lipoblastoma oio:hasExactSynonym fetal lipoma fetal lipoma Fetal Lipoma NCIT:C27483 Lipoblastoma fetal lipoma NCIT:C27483 MONDO:0016611 lipoblastoma oio:hasExactSynonym infantile lipoma infantile lipoma Infantile Lipoma NCIT:C27483 Lipoblastoma infantile lipoma NCIT:C27483 MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma meningioma NCIT:C3230 -MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma meningioma NCIT:C8264 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym rose cluster 5 rose cluster 5 ROSE Cluster 5 NCIT:C121984 ROSE Cluster 5 rose cluster 5 NCIT:C121984 MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced cutaneous vasculitis drug induced cutaneous vasculitis Drug Induced Cutaneous Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis drug induced cutaneous vasculitis NCIT:C112204 MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced vasculitis drug induced vasculitis Drug Induced Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis drug induced vasculitis NCIT:C112204 @@ -15681,19 +15448,18 @@ MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytic tumor MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytoma grade II astrocytoma Grade II Astrocytoma NCIT:C7173 Diffuse Astrocytoma grade II astrocytoma NCIT:C7173 MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic astrocytoma NCIT:C4320 Protoplasmic Astrocytoma protoplasmic astrocytoma NCIT:C4320 MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic Astrocytoma NCIT:C4320 Protoplasmic Astrocytoma protoplasmic astrocytoma NCIT:C4320 -MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 +MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym Gemistocytoma NCIT:C4321 Gemistocytic Astrocytoma Gemistocytoma NCIT:C4321 -MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 +MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym pleomorphic Xantho-astrocytoma pleomorphic Xantho-astrocytoma Pleomorphic Xantho-Astrocytoma NCIT:C4323 Pleomorphic Xanthoastrocytoma pleomorphic Xantho-astrocytoma NCIT:C4323 MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym PXA NCIT:C4323 Pleomorphic Xanthoastrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PXA NCIT:C4323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic neoplasm grade I astrocytic neoplasm Grade I Astrocytic Neoplasm NCIT:C4047 Pilocytic Astrocytoma grade I astrocytic neoplasm NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic tumor grade I astrocytic tumor Grade I Astrocytic Tumor NCIT:C4047 Pilocytic Astrocytoma grade I astrocytic tumor NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytoma grade I astrocytoma Grade I Astrocytoma NCIT:C4047 Pilocytic Astrocytoma grade I astrocytoma NCIT:C4047 -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4048 +MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic neoplasm Subependymal Giant Cell Astrocytic Neoplasm NCIT:C3696 Subependymal Giant Cell Astrocytoma subependymal giant cell astrocytic neoplasm NCIT:C3696 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic tumor subependymal giant cell astrocytic tumor Subependymal Giant Cell Astrocytic Tumor NCIT:C3696 Subependymal Giant Cell Astrocytoma subependymal giant cell astrocytic tumor NCIT:C3696 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym SEGA NCIT:C3696 Subependymal Giant Cell Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEGA NCIT:C3696 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15702,8 +15468,6 @@ MONDO:0016695 oligodendroglioma oio:hasExactSynonym WHO grade II oligodendrogli MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma oligodendroglioma NCIT:C3288 MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglial tumor well differentiated oligodendroglial tumor Well Differentiated Oligodendroglial Tumor NCIT:C3288 Oligodendroglioma well differentiated oligodendroglial tumor NCIT:C3288 MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglioma well differentiated oligodendroglioma Well Differentiated Oligodendroglioma NCIT:C3288 Oligodendroglioma well differentiated oligodendroglioma NCIT:C3288 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma oligodendroglioma NCIT:C4014 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma oligodendroglioma NCIT:C4045 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial neoplasm WHO grade III oligodendroglial neoplasm WHO Grade III Oligodendroglial Neoplasm NCIT:C4326 Anaplastic Oligodendroglioma WHO grade III oligodendroglial neoplasm NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial tumor WHO grade III oligodendroglial tumor WHO Grade III Oligodendroglial Tumor NCIT:C4326 Anaplastic Oligodendroglioma WHO grade III oligodendroglial tumor NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym anaplastic oligodendroglioma anaplastic oligodendroglioma Anaplastic Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma anaplastic oligodendroglioma NCIT:C4326 @@ -15711,7 +15475,6 @@ MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym malignant oligod MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym oligodendroglioma, malignant oligodendroglioma, malignant Oligodendroglioma, Malignant NCIT:C4326 Anaplastic Oligodendroglioma oligodendroglioma, malignant NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym undifferentiated oligodendroglioma undifferentiated oligodendroglioma Undifferentiated Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma undifferentiated oligodendroglioma NCIT:C4326 MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma ependymoma NCIT:C3017 -MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma ependymoma NCIT:C8578 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma ependymoma, benign NCIT:C3697 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary Ependymoma NCIT:C3697 Myxopapillary Ependymoma myxopapillary ependymoma NCIT:C3697 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary ependymoma NCIT:C3697 Myxopapillary Ependymoma myxopapillary ependymoma NCIT:C3697 @@ -15724,7 +15487,6 @@ MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym malignant ependymoma ma MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal neoplasm undifferentiated ependymal neoplasm Undifferentiated Ependymal Neoplasm NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymal neoplasm NCIT:C4049 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal tumor undifferentiated ependymal tumor Undifferentiated Ependymal Tumor NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymal tumor NCIT:C4049 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymoma undifferentiated ependymoma Undifferentiated Ependymoma NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymoma NCIT:C4049 -MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma anaplastic ependymoma NCIT:C8269 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym WHO grade II mixed glioma WHO grade II mixed glioma WHO Grade II Mixed Glioma NCIT:C4050 Oligoastrocytoma WHO grade II mixed glioma NCIT:C4050 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym glioma, mixed, benign glioma, mixed, benign GLIOMA, MIXED, BENIGN NCIT:C4050 Oligoastrocytoma glioma, mixed, benign NCIT:C4050 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial neoplasm Mixed Astrocytic-Oligodendroglial Neoplasm NCIT:C4050 Oligoastrocytoma mixed astrocytic-oligodendroglial neoplasm NCIT:C4050 @@ -15745,14 +15507,14 @@ MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordo MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the 3rd ventricle chordoid glioma of the 3rd ventricle Chordoid Glioma of the 3rd Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of the 3rd ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle chordoid glioma of the third ventricle Chordoid Glioma of the Third Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of the third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle (WHO grade II) chordoid glioma of the third ventricle (WHO grade II) Chordoid Glioma of the Third Ventricle (WHO Grade II) NCIT:C5592 Chordoid Glioma chordoid glioma of the third ventricle (WHO grade II) NCIT:C5592 -MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid Glioma of Third Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 +MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym third ventricle chordoid glioma third ventricle chordoid glioma Third Ventricle Chordoid Glioma NCIT:C5592 Chordoid Glioma third ventricle chordoid glioma NCIT:C5592 MONDO:0016707 astroblastoma oio:hasExactSynonym astroblastoma astroblastoma Astroblastoma NCIT:C4324 Astroblastoma, MN1-Altered astroblastoma NCIT:C4324 MONDO:0016709 anaplastic/large cell medulloblastoma oio:hasExactSynonym large cell/anaplastic medulloblastoma large cell/anaplastic medulloblastoma Large Cell/Anaplastic Medulloblastoma NCIT:C129436 Large Cell/Anaplastic Medulloblastoma large cell/anaplastic medulloblastoma NCIT:C129436 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym cerebellar neuroblastoma cerebellar neuroblastoma Cerebellar Neuroblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity cerebellar neuroblastoma NCIT:C5407 -MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 +MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity and advanced neuronal differentiation medulloblastoma with extensive nodularity and advanced neuronal differentiation Medulloblastoma with Extensive Nodularity and Advanced Neuronal Differentiation NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity and advanced neuronal differentiation NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym nodular medulloblastoma nodular medulloblastoma Nodular Medulloblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity nodular medulloblastoma NCIT:C5407 MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym Desmoplastic medulloblastoma Desmoplastic medulloblastoma Desmoplastic Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma Desmoplastic medulloblastoma NCIT:C4956 @@ -15770,22 +15532,18 @@ MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multila MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C4915 MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with abundant neuropil and true Rosettes embryonal tumor with abundant neuropil and true Rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with abundant neuropil and true Rosettes NCIT:C4915 MONDO:0016715 ependymoblastoma oio:hasExactSynonym ependymoblastoma ependymoblastoma Ependymoblastoma NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered ependymoblastoma NCIT:C4915 -MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C8290 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus tumor choroid plexus tumor Choroid Plexus Tumor NCIT:C3473 Choroid Plexus Neoplasm choroid plexus tumor NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of choroid plexus neoplasm of choroid plexus Neoplasm of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm neoplasm of choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of the choroid plexus neoplasm of the choroid plexus Neoplasm of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm neoplasm of the choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm tumor of choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of the choroid plexus tumor of the choroid plexus Tumor of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm tumor of the choroid plexus NCIT:C3473 -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C42080 -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C8568 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma anaplastic choroid plexus papilloma Anaplastic Choroid Plexus Papilloma NCIT:C4715 Choroid Plexus Carcinoma anaplastic choroid plexus papilloma NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of choroid plexus carcinoma of choroid plexus Carcinoma of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma carcinoma of choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of the choroid plexus carcinoma of the choroid plexus Carcinoma of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma carcinoma of the choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma, choroid plexus, malignant carcinoma, choroid plexus, malignant CARCINOMA, CHOROID PLEXUS, MALIGNANT NCIT:C4715 Choroid Plexus Carcinoma carcinoma, choroid plexus, malignant NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma choroid plexus carcinoma NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma choroid plexus carcinoma NCIT:C4715 -MONDO:0016722 pineoblastoma oio:hasExactSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma pineoblastoma NCIT:C8292 MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of pineal gland PNET of pineal gland PNET of Pineal Gland NCIT:C9344 Pineoblastoma PNET of pineal gland NCIT:C9344 MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of the pineal gland PNET of the pineal gland PNET of the Pineal Gland NCIT:C9344 Pineoblastoma PNET of the pineal gland NCIT:C9344 MONDO:0016722 pineoblastoma oio:hasExactSynonym pineal PNET pineal PNET Pineal PNET NCIT:C9344 Pineoblastoma pineal PNET NCIT:C9344 @@ -15815,10 +15573,9 @@ MONDO:0016729 mixed neuronal-glial tumor oio:hasExactSynonym neuronal and mixed MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma NCIT:C3788 Ganglioglioma ganglioglioma NCIT:C3788 MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym papillary glioneuronal tumor (WHO grade I) papillary glioneuronal tumor (WHO grade I) Papillary Glioneuronal Tumor (WHO Grade I) NCIT:C92554 Papillary Glioneuronal Tumor papillary glioneuronal tumor (WHO grade I) NCIT:C92554 MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym PGNT NCIT:C92554 Papillary Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PGNT NCIT:C92554 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-Forming Glioneuronal Tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym RGNT NCIT:C129431 Rosette-Forming Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RGNT NCIT:C129431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor central nervous system yolk Sac tumor NCIT:C6209 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym CNS yolk Sac tumor CNS yolk Sac tumor CNS Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor CNS yolk Sac tumor NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor central nervous system yolk Sac tumor NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of CNS yolk Sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of CNS NCIT:C7011 @@ -15826,13 +15583,9 @@ MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of the CNS NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the central nervous system yolk Sac tumor of the central nervous system Yolk Sac Tumor of the Central Nervous System NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of the central nervous system NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk sac tumor of CNS yolk sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk sac tumor of CNS NCIT:C7011 -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C5793 -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C6206 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C7012 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of CNS choriocarcinoma of CNS Choriocarcinoma of CNS NCIT:C7012 Central Nervous System Choriocarcinoma choriocarcinoma of CNS NCIT:C7012 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of the CNS choriocarcinoma of the CNS Choriocarcinoma of the CNS NCIT:C7012 Central Nervous System Choriocarcinoma choriocarcinoma of the CNS NCIT:C7012 -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C27402 -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C27403 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym CNS mixed germ cell tumor CNS mixed germ cell tumor CNS Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor CNS mixed germ cell tumor NCIT:C7016 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C7016 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym mixed germ cell neoplasm of the central nervous system mixed germ cell neoplasm of the central nervous system Mixed Germ Cell Neoplasm of the Central Nervous System NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor mixed germ cell neoplasm of the central nervous system NCIT:C7016 @@ -15905,14 +15658,12 @@ MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma hemangiosarcoma MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma, malignant hemangiosarcoma, malignant HEMANGIOSARCOMA, MALIGNANT NCIT:C3088 Angiosarcoma hemangiosarcoma, malignant NCIT:C3088 MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant angioendothelioma malignant angioendothelioma Malignant Angioendothelioma NCIT:C3088 Angiosarcoma malignant angioendothelioma NCIT:C3088 MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant hemangioendothelioma malignant hemangioendothelioma Malignant Hemangioendothelioma NCIT:C3088 Angiosarcoma malignant hemangioendothelioma NCIT:C3088 -MONDO:0016982 angiosarcoma oio:hasExactSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma angiosarcoma NCIT:C9174 MONDO:0016984 nevus of Ota oio:hasExactSynonym Ota's Nevus NCIT:C7583 Nevus of Ota Ota's Nevus NCIT:C7583 MONDO:0016984 nevus of Ota oio:hasExactSynonym oculocutaneous melanocytic Nevus oculocutaneous melanocytic Nevus Oculocutaneous Melanocytic Nevus NCIT:C7583 Nevus of Ota oculocutaneous melanocytic Nevus NCIT:C7583 MONDO:0016984 nevus of Ota oio:hasExactSynonym oculodermal melanocytosis oculodermal melanocytosis Oculodermal Melanocytosis NCIT:C7583 Nevus of Ota oculodermal melanocytosis NCIT:C7583 MONDO:0016985 nevus of Ito oio:hasExactSynonym Ito's Nevus NCIT:C7582 Nevus of Ito Ito's Nevus NCIT:C7582 MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym childhood Langerhans cell histiocytosis childhood Langerhans cell histiocytosis Childhood Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis childhood Langerhans cell histiocytosis NCIT:C114483 MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym adult Langerhans cell histiocytosis adult Langerhans cell histiocytosis Adult Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis adult Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C3944 Congenital Melanocytic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMN NCIT:C3944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym congenital mesoblastic nephroma congenital mesoblastic nephroma Congenital Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma congenital mesoblastic nephroma NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym stromal nephroma, malignant stromal nephroma, malignant STROMAL NEPHROMA, MALIGNANT NCIT:C6569 Congenital Mesoblastic Nephroma stromal nephroma, malignant NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C6569 Congenital Mesoblastic Nephroma http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMN NCIT:C6569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15920,8 +15671,8 @@ MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym Myxoma peritonei Myxom MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym gelatinous ascites gelatinous ascites Gelatinous Ascites NCIT:C3345 Pseudomyxoma Peritonei gelatinous ascites NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym mucinous ascites mucinous ascites Mucinous Ascites NCIT:C3345 Pseudomyxoma Peritonei mucinous ascites NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym peritoneal cavity pseudomyxoma peritonei peritoneal cavity pseudomyxoma peritonei Peritoneal Cavity Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei peritoneal cavity pseudomyxoma peritonei NCIT:C3345 -MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 +MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 MONDO:0017050 intraocular medulloepithelioma oio:hasExactSynonym intraocular medulloepithelioma intraocular medulloepithelioma Intraocular Medulloepithelioma NCIT:C66806 Ciliary Body Medulloepithelioma intraocular medulloepithelioma NCIT:C66806 MONDO:0017069 spina bifida cystica oio:hasExactSynonym meningomyelocele meningomyelocele Meningomyelocele NCIT:C101201 Myelomeningocele meningomyelocele NCIT:C101201 MONDO:0017078 cephalocele oio:hasExactSynonym cranium bifidum cranium bifidum Cranium Bifidum NCIT:C84687 Encephalocele cranium bifidum NCIT:C84687 @@ -15933,7 +15684,6 @@ MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G syndrome Opitz G MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G/BBB syndrome Opitz G/BBB syndrome Opitz G/BBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome Opitz G/BBB syndrome NCIT:C125487 MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz GBBB syndrome Opitz GBBB syndrome Opitz GBBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome Opitz GBBB syndrome NCIT:C125487 MONDO:0017148 heritable pulmonary arterial hypertension oio:hasExactSynonym HPAH HpaH HPAH NCIT:C121945 Heritable Pulmonary Arterial Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPAH NCIT:C121945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 multiple endocrine adenomatosis NCIT:C3225 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym men syndromes men syndromes MEN Syndromes NCIT:C6432 Multiple Endocrine Neoplasia men syndromes NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine adenomatosis NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple Endocrine Neoplasia NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine neoplasia NCIT:C6432 @@ -15941,32 +15691,26 @@ MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocri MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia syndrome(s) multiple endocrine neoplasia syndrome(s) Multiple Endocrine Neoplasia Syndrome(s) NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine neoplasia syndrome(s) NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym MEN NCIT:C6432 Multiple Endocrine Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MEN NCIT:C6432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis Dissecans NCIT:C34878 Osteochondritis Dissecans osteochondritis dissecans NCIT:C34878 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism congenital hyperinsulinism NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym hyperinsulinemia of infancy hyperinsulinemia of infancy Hyperinsulinemia of Infancy NCIT:C131425 Congenital Hyperinsulinism hyperinsulinemia of infancy NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym neonatal hyperinsulinism neonatal hyperinsulinism Neonatal Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism neonatal hyperinsulinism NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism nesidioblastosis NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym HHI NCIT:C131425 Congenital Hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHI NCIT:C131425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis nesidioblastosis NCIT:C4375 MONDO:0017194 Blount disease oio:hasExactSynonym Blount disease Blount disease Blount Disease NCIT:C118460 Blount's Disease Blount disease NCIT:C118460 MONDO:0017194 Blount disease oio:hasExactSynonym Blount's disease Blount's disease Blount's Disease NCIT:C118460 Blount's Disease Blount's disease NCIT:C118460 -MONDO:0017198 osteopetrosis oio:hasExactSynonym Albers-Schonberg disease Albers-Schonberg disease Albers-Schonberg Disease NCIT:C129732 Autosomal Dominant Osteopetrosis Albers-Schonberg disease NCIT:C129732 -MONDO:0017198 osteopetrosis oio:hasExactSynonym marble bone disease marble bone disease Marble Bone Disease NCIT:C129732 Autosomal Dominant Osteopetrosis marble bone disease NCIT:C129732 MONDO:0017198 osteopetrosis oio:hasExactSynonym osteopetrosis osteopetrosis Osteopetrosis NCIT:C26840 Osteopetrosis osteopetrosis NCIT:C26840 MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym RPGN NCIT:C35264 Rapidly Progressive Glomerulonephritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RPGN NCIT:C35264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis NCIT:C84989 Panuveitis panuveitis NCIT:C84989 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome Autoimmune Polyendocrine Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyendocrine syndrome NCIT:C129726 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune Polyglandular Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyglandular syndrome NCIT:C129726 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome(s) autoimmune polyglandular syndrome(s) Autoimmune Polyglandular Syndrome(s) NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyglandular syndrome(s) NCIT:C129726 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome NCIT:C61283 Antiphospholipid Syndrome Antiphospholipid Syndrome NCIT:C61283 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune Polyendocrinopathy NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome autoimmune polyendocrinopathy NCIT:C84576 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy syndrome autoimmune polyendocrinopathy syndrome Autoimmune Polyendocrinopathy Syndrome NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome autoimmune polyendocrinopathy syndrome NCIT:C84576 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym congenital penoscrotal transposition congenital penoscrotal transposition Congenital Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition congenital penoscrotal transposition NCIT:C99010 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition penoscrotal transposition NCIT:C99010 MONDO:0017287 IgG4-related disease oio:hasExactSynonym IgG4-related sclerosing disease IgG4-related sclerosing disease IgG4-Related Sclerosing Disease NCIT:C95992 IgG4-Related Disease IgG4-related sclerosing disease NCIT:C95992 -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal lung adenocarcinoma fetal lung adenocarcinoma Fetal Lung Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal lung adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary adenocarcinoma of fetal type pulmonary adenocarcinoma of fetal type Pulmonary Adenocarcinoma of Fetal Type NCIT:C45509 Lung Fetal Adenocarcinoma pulmonary adenocarcinoma of fetal type NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary endodermal tumor resembling fetal lung pulmonary endodermal tumor resembling fetal lung Pulmonary Endodermal Tumor Resembling Fetal Lung NCIT:C45509 Lung Fetal Adenocarcinoma pulmonary endodermal tumor resembling fetal lung NCIT:C45509 @@ -15981,15 +15725,14 @@ MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym i MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym IDH NCIT:C129260 IDH Gene Family http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IDH NCIT:C129260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal angiofibroma nasopharyngeal angiofibroma Nasopharyngeal Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma nasopharyngeal angiofibroma NCIT:C27479 MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal juvenile angiofibroma nasopharyngeal juvenile angiofibroma Nasopharyngeal Juvenile Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma nasopharyngeal juvenile angiofibroma NCIT:C27479 -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive Diffuse Large B-Cell Lymphoma, NOS NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV-Positive diffuse large B-cell lymphoma, NOS NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-Associated B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Senile EBV-associated B-cell lymphoproliferative disorder NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym age-related EBV Positive B-cell lymphoproliferative disorder age-related EBV Positive B-cell lymphoproliferative disorder Age-Related EBV Positive B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified age-related EBV Positive B-cell lymphoproliferative disorder NCIT:C80281 -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C4671 Breast Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBL NCIT:C4671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 +MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C7224 Plasmablastic Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBL NCIT:C7224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017349 myopericytoma oio:hasExactSynonym solitary myofibroma solitary myofibroma Solitary Myofibroma NCIT:C50401 Myopericytoma solitary myofibroma NCIT:C50401 MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella congenital rubella Congenital Rubella NCIT:C34992 Congenital Rubella congenital rubella NCIT:C34992 @@ -16007,25 +15750,20 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposi MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym malignant migrating Partial seizures in infancy malignant migrating Partial seizures in infancy Malignant Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy malignant migrating Partial seizures in infancy NCIT:C125387 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym migrating Partial seizures in infancy migrating Partial seizures in infancy Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy migrating Partial seizures in infancy NCIT:C125387 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym MMPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MMPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma, adult type pleomorphic rhabdomyosarcoma, adult type Pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma NCIT:C4258 -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma NCIT:C7959 -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid cell sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 +MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma epithelioid sarcoma NCIT:C7944 -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma epithelioid sarcoma NCIT:C8095 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD syndrome ROHHAD syndrome ROHHAD Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation ROHHAD syndrome NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ROHHAD NCIT:C121944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017409 fetal cytomegalovirus syndrome oio:hasExactSynonym congenital Cytomegaloviral infection congenital Cytomegaloviral infection Congenital Cytomegaloviral Infection NCIT:C122427 Congenital Cytomegaloviral Infection congenital Cytomegaloviral infection NCIT:C122427 -MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia phocomelia NCIT:C34928 MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia PHOCOMELIA NCIT:C34928 Phocomelia phocomelia NCIT:C34928 +MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia phocomelia NCIT:C34928 MONDO:0017462 congenital pseudoarthrosis of the tibia oio:hasExactSynonym congenital pseudarthrosis of tibia congenital pseudarthrosis of tibia Congenital Pseudarthrosis of Tibia NCIT:C132080 Congenital Pseudarthrosis of Tibia congenital pseudarthrosis of tibia NCIT:C132080 MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym genu recurvatum genu recurvatum Genu Recurvatum NCIT:C103184 Genu Recurvatum genu recurvatum NCIT:C103184 MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym hyperextension deformity of knee hyperextension deformity of knee Hyperextension Deformity of Knee NCIT:C103184 Genu Recurvatum hyperextension deformity of knee NCIT:C103184 @@ -16080,7 +15818,6 @@ MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZBCL NCIT:C4341 Mar MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZL NCIT:C4341 Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MZL NCIT:C4341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia Caudal Dysplasia NCIT:C124505 Caudal Dysplasia caudal dysplasia NCIT:C124505 MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia CAUDAL DYSPLASIA NCIT:C124505 Caudal Dysplasia caudal dysplasia NCIT:C124505 -MONDO:0017607 caudal regression sequence oio:hasExactSynonym Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis Caudal Regression Syndrome NCIT:C99054 MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex NCIT:C84692 Epidermolysis Bullosa Simplex epidermolysis bullosa simplex NCIT:C84692 MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary neoplasm of pituitary Neoplasm of Pituitary NCIT:C3330 Pituitary Gland Neoplasm neoplasm of pituitary NCIT:C3330 MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary gland neoplasm of pituitary gland Neoplasm of Pituitary Gland NCIT:C3330 Pituitary Gland Neoplasm neoplasm of pituitary gland NCIT:C3330 @@ -16097,7 +15834,6 @@ MONDO:0017611 pituitary tumor oio:hasExactSynonym tumor of the pituitary gland MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional epidermolysis bullosa junctional epidermolysis bullosa Junctional Epidermolysis Bullosa NCIT:C90598 Junctional Epidermolysis Bullosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL junctional epidermolysis bullosa NCIT:C90598 MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome PTEN Hamartoma Tumor Syndrome NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL PTEN hamartoma tumor syndrome NCIT:C179915 MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PHTS NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHTS NCIT:C179915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017767 rheumatic fever oio:hasExactSynonym acute rheumatic fever acute rheumatic fever Acute Rheumatic Fever NCIT:C34984 Rheumatic Fever acute rheumatic fever NCIT:C34984 MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym MRKH syndrome MRKH syndrome MRKH Syndrome NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome MRKH syndrome NCIT:C124853 @@ -16118,8 +15854,6 @@ MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neuro MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neurogenic sarcoma neurogenic sarcoma Neurogenic sarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor neurogenic sarcoma NCIT:C3798 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym schwannoma, malignant schwannoma, malignant SCHWANNOMA, MALIGNANT NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor schwannoma, malignant NCIT:C3798 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym MPNST NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPNST NCIT:C3798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor malignant peripheral nerve sheath tumor NCIT:C7814 -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor malignant peripheral nerve sheath tumor NCIT:C8094 MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly cortical hyperostosis with syndactyly Cortical Hyperostosis with Syndactyly NCIT:C131133 Sclerosteosis cortical hyperostosis with syndactyly NCIT:C131133 MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN NCIT:C168588 Senior-Loken Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLSN NCIT:C168588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym bronchopulmonary sequestration bronchopulmonary sequestration Bronchopulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration bronchopulmonary sequestration NCIT:C97124 @@ -16127,19 +15861,17 @@ MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym pulmonary sequestration pulmonary sequestration Pulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration pulmonary sequestration NCIT:C97124 MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym sequestered lobe (pulmonary sequestration) sequestered lobe (pulmonary sequestration) Sequestered Lobe (Pulmonary Sequestration) NCIT:C97124 Bronchopulmonary Sequestration sequestered lobe (pulmonary sequestration) NCIT:C97124 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease NCIT:C3366 Sezary Syndrome Sezary disease NCIT:C3366 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome Sezary syndrome Sezary Syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 +MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease Sezary's disease Sezary's Disease NCIT:C3366 Sezary Syndrome Sezary's disease NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Sézary syndrome Sézary Syndrome NCIT:C3366 Sezary Syndrome Sézary syndrome NCIT:C3366 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome NCIT:C35300 Sheehan Syndrome Sheehan Syndrome NCIT:C35300 MONDO:0017850 sirenomelia oio:hasExactSynonym symmelia symmelia Symmelia NCIT:C118455 Sirenomelia symmelia NCIT:C118455 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia Variabilis NCIT:C84696 Erythrokeratodermia Variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis NCIT:C84696 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym allergic pneumonitis allergic pneumonitis Allergic Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis allergic pneumonitis NCIT:C34369 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym extrinsic allergic alveolitis extrinsic allergic alveolitis Extrinsic Allergic Alveolitis NCIT:C34369 Extrinsic Allergic Alveolitis extrinsic allergic alveolitis NCIT:C34369 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym hypersensitivity pneumonitis hypersensitivity pneumonitis Hypersensitivity Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis hypersensitivity pneumonitis NCIT:C34369 -MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 +MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym M6 acute myeloid leukemia M6 acute myeloid leukemia M6 Acute Myeloid Leukemia NCIT:C8923 Acute Erythroid Leukemia M6 acute myeloid leukemia NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroblastic leukemia acute erythroblastic leukemia Acute Erythroblastic Leukemia NCIT:C8923 Acute Erythroid Leukemia acute erythroblastic leukemia NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroid leukemia acute erythroid leukemia Acute Erythroid Leukemia NCIT:C8923 Acute Erythroid Leukemia acute erythroid leukemia NCIT:C8923 @@ -16152,8 +15884,8 @@ MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil car MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil renal cell carcinoma chromophil renal cell carcinoma Chromophil Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma chromophil renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary (chromophil) renal cell carcinoma papillary (chromophil) renal cell carcinoma Papillary (Chromophil) Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma papillary (chromophil) renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell cancer papillary renal cell cancer Papillary Renal Cell Cancer NCIT:C6975 Papillary Renal Cell Carcinoma papillary renal cell cancer NCIT:C6975 -MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 +MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe Adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe adenocarcinoma NCIT:C4146 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe adenocarcinoma NCIT:C4146 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe carcinoma chromophobe carcinoma Chromophobe carcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe carcinoma NCIT:C4146 @@ -16181,7 +15913,6 @@ MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym 5 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione Synthetase Deficiency NCIT:C128193 Glutathione Synthetase Deficiency glutathione synthetase deficiency NCIT:C128193 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic Aciduria NCIT:C128193 Glutathione Synthetase Deficiency pyroglutamic aciduria NCIT:C128193 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym GSSD NCIT:C128193 Glutathione Synthetase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GSSD NCIT:C128193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC NCIT:C6287 Endometrial Endometrioid Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC NCIT:C6287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex OEIS Complex NCIT:C99142 OEIS Complex OEIS complex NCIT:C99142 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS syndrome OEIS syndrome OEIS Syndrome NCIT:C99142 OEIS Complex OEIS syndrome NCIT:C99142 MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome Canale-Smith syndrome Canale-Smith Syndrome NCIT:C37864 Autoimmune Lymphoproliferative Syndrome Canale-Smith syndrome NCIT:C37864 @@ -16197,7 +15928,6 @@ MONDO:0018017 goblet cell carcinoma oio:hasExactSynonym appendix mixed carcinoi MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym fetal thalidomide syndrome fetal thalidomide syndrome Fetal Thalidomide Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome fetal thalidomide syndrome NCIT:C99082 MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide embryopathy syndrome thalidomide embryopathy syndrome Thalidomide Embryopathy Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome thalidomide embryopathy syndrome NCIT:C99082 MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide-induced birth defect thalidomide-induced birth defect Thalidomide-Induced Birth Defect NCIT:C99082 Thalidomide Embryopathy Syndrome thalidomide-induced birth defect NCIT:C99082 -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency hyper-IgE recurrent infection syndrome NCIT:C126342 MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome hyperimmunoglobulin E syndrome Hyperimmunoglobulin E Syndrome NCIT:C3144 Hyperimmunoglobulin E Syndrome hyperimmunoglobulin E syndrome NCIT:C3144 MONDO:0018044 idiopathic hypersomnia oio:hasExactSynonym primary hypersomnia primary hypersomnia Primary Hypersomnia NCIT:C116343 Idiopathic Hypersomnia primary hypersomnia NCIT:C116343 MONDO:0018053 trichothiodystrophy oio:hasExactSynonym trichothiodystrophy syndrome trichothiodystrophy syndrome Trichothiodystrophy Syndrome NCIT:C4924 Trichothiodystrophy trichothiodystrophy syndrome NCIT:C4924 @@ -16220,8 +15950,8 @@ MONDO:0018075 neural tube defect oio:hasExactSynonym NTD NCIT:C84923 Neural T MONDO:0018076 tuberculosis oio:hasExactSynonym tuberculosis disease tuberculosis disease Tuberculosis Disease NCIT:C3423 Tuberculosis tuberculosis disease NCIT:C3423 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of soft tissue sarcoma of soft tissue Sarcoma of Soft Tissue NCIT:C9306 Soft Tissue Sarcoma sarcoma of soft tissue NCIT:C9306 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of the soft tissue sarcoma of the soft tissue Sarcoma of the Soft Tissue NCIT:C9306 Soft Tissue Sarcoma sarcoma of the soft tissue NCIT:C9306 -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft tissue sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 +MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial neoplasm Thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm Thymus epithelial neoplasm NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial tumor Thymus epithelial tumor Thymus Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm Thymus epithelial tumor NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial neoplasm of Thymus epithelial neoplasm of Thymus Epithelial Neoplasm of Thymus NCIT:C6450 Thymic Epithelial Neoplasm epithelial neoplasm of Thymus NCIT:C6450 @@ -16231,10 +15961,9 @@ MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial tumor o MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelial tumor thymic epithelial tumor Thymic Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm thymic epithelial tumor NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelium neoplasm thymic epithelium neoplasm Thymic Epithelium Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm thymic epithelium neoplasm NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymus epithelial neoplasm thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm thymus epithelial neoplasm NCIT:C6450 -MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym TEN NCIT:C79777 Toxic Epidermal Necrolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TEN NCIT:C79777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF NCIT:C84707 Familial Mediterranean Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMF NCIT:C84707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle Double Outlet Right Ventricle NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 +MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym uveomeningoencephalitic syndrome uveomeningoencephalitic syndrome Uveomeningoencephalitic Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome uveomeningoencephalitic syndrome NCIT:C85218 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg's syndrome Waardenburg's syndrome Waardenburg's Syndrome NCIT:C85222 Waardenburg Syndrome Waardenburg's syndrome NCIT:C85222 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome Waardenburg syndrome Waardenburg Syndrome NCIT:C85222 Waardenburg Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome NCIT:C85222 @@ -16272,10 +16001,9 @@ MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme glioblas MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma multiforme NCIT:C3058 Glioblastoma spongioblastoma multiforme NCIT:C3058 MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma Multiforme NCIT:C3058 Glioblastoma spongioblastoma multiforme NCIT:C3058 MONDO:0018177 glioblastoma oio:hasExactSynonym GBM NCIT:C3058 Glioblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBM NCIT:C3058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma glioblastoma NCIT:C9094 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal Scalded Skin Syndrome NCIT:C85077 Staphylococcal Scalded Skin Syndrome staphylococcal scalded skin syndrome NCIT:C85077 -MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis Plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 +MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of testis teratoma of testis Teratoma of Testis NCIT:C3877 Testicular Teratoma teratoma of testis NCIT:C3877 MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of the testis teratoma of the testis Teratoma of the Testis NCIT:C3877 Testicular Teratoma teratoma of the testis NCIT:C3877 MONDO:0018193 testicular teratoma oio:hasExactSynonym testicular teratoma testicular teratoma Testicular Teratoma NCIT:C3877 Testicular Teratoma testicular teratoma NCIT:C3877 @@ -16303,7 +16031,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym diffuse la MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-DLBCL NCIT:C7225 ALK-Positive Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALK-DLBCL NCIT:C7225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym Stevens Johnson syndrome Stevens Johnson syndrome Stevens Johnson Syndrome NCIT:C79484 Stevens-Johnson Syndrome Stevens Johnson syndrome NCIT:C79484 MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis dysostosis Dysostosis NCIT:C34560 Dysostosis dysostosis NCIT:C34560 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym EOE EOE EoE NCIT:C27105 Eosinophilic Esophagitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOE NCIT:C27105 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym Extra-osseous Ewing's sarcoma Extra-osseous Ewing's sarcoma Extra-Osseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma Extra-osseous Ewing's sarcoma NCIT:C7135 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma extraosseous Ewing sarcoma Extraosseous Ewing Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma extraosseous Ewing sarcoma NCIT:C7135 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma Extraosseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma extraosseous Ewing's sarcoma NCIT:C7135 @@ -16331,8 +16058,6 @@ MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym mesenchymal hamar MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease Hirschsprung Disease NCIT:C34700 Hirschsprung Disease Hirschsprung disease NCIT:C34700 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung's disease Hirschsprung's disease Hirschsprung's Disease NCIT:C34700 Hirschsprung Disease Hirschsprung's disease NCIT:C34700 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic Megacolon NCIT:C34700 Hirschsprung Disease aganglionic megacolon NCIT:C34700 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C114483 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C114929 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell granulomatosis NCIT:C3107 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Langerhans cell granulomatosis Langerhans Cell Granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell granulomatosis NCIT:C3107 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C3107 @@ -16355,7 +16080,6 @@ MONDO:0018352 squamous cell carcinoma of penis oio:hasExactSynonym squamous cel MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian epithelial tumor malignant ovarian epithelial tumor Malignant Ovarian Epithelial Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian epithelial tumor NCIT:C40026 MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal neoplasm Malignant Ovarian Surface Epithelial-Stromal Neoplasm NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian surface epithelial-stromal neoplasm NCIT:C40026 MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal tumor malignant ovarian surface epithelial-stromal tumor Malignant Ovarian Surface Epithelial-Stromal Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian surface epithelial-stromal tumor NCIT:C40026 -MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma ovarian epithelial cancer NCIT:C4908 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary peritoneal serous papillary adenocarcinoma NCIT:C7695 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary carcinoma primary peritoneal serous papillary carcinoma Primary Peritoneal Serous Papillary Carcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary peritoneal serous papillary carcinoma NCIT:C7695 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary Serous Papillary Carcinoma of Peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary serous papillary carcinoma of peritoneum NCIT:C7695 @@ -16374,10 +16098,8 @@ MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym osteonecrosis of jaw MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym ONJ NCIT:C63924 Osteonecrosis of Jaw http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONJ NCIT:C63924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma NCIT:C3830 Chondromyxoid Fibroma Chondromyxoid fibroma NCIT:C3830 MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma Chondromyxoid fibroma Chondromyxoid Fibroma NCIT:C3830 Chondromyxoid Fibroma Chondromyxoid fibroma NCIT:C3830 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym FAMM syndrome FAMM syndrome FAMM Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome FAMM syndrome NCIT:C27264 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical mole melanoma syndrome familial atypical mole melanoma syndrome Familial Atypical Mole Melanoma Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome familial atypical mole melanoma syndrome NCIT:C27264 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym B-K mole syndrome B-K mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome B-K mole syndrome NCIT:C7584 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia familial benign hypercalcemia Familial Benign Hypercalcemia NCIT:C123262 Familial Hypocalciuric Hypercalcemia familial benign hypercalcemia NCIT:C123262 MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis renal agenesis Renal Agenesis NCIT:C99041 Renal Agenesis renal agenesis NCIT:C99041 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin Encephalopathy NCIT:C84799 Kernicterus bilirubin encephalopathy NCIT:C84799 @@ -16427,7 +16149,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym pancreatic mu MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma pancreatic solid pseudopapillary carcinoma Pancreatic Solid Pseudopapillary Carcinoma NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas pancreatic solid pseudopapillary carcinoma NCIT:C5728 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of pancreas solid pseudopapillary carcinoma of pancreas Solid Pseudopapillary Carcinoma of Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas solid pseudopapillary carcinoma of pancreas NCIT:C5728 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of the pancreas solid pseudopapillary carcinoma of the pancreas Solid Pseudopapillary Carcinoma of the Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas solid pseudopapillary carcinoma of the pancreas NCIT:C5728 -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma liver and intrahepatic biliary tract carcinoma NCIT:C3828 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma liver and intrahepatic bile duct carcinoma NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract cancer liver and intrahepatic biliary tract cancer Liver and Intrahepatic Biliary Tract Cancer NCIT:C7927 Liver Carcinoma liver and intrahepatic biliary tract cancer NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma liver and intrahepatic biliary tract carcinoma NCIT:C7927 @@ -16439,7 +16160,6 @@ MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym central hypogonadism central hypogonadism Central Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism central hypogonadism NCIT:C113347 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism NCIT:C113347 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym secondary hypogonadism secondary hypogonadism Secondary Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism secondary hypogonadism NCIT:C113347 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome hypogonadotropic hypogonadism NCIT:C34752 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert Eaton myasthenic syndrome Lambert Eaton myasthenic syndrome Lambert Eaton Myasthenic Syndrome NCIT:C3155 Lambert Eaton Myasthenic Syndrome Lambert Eaton myasthenic syndrome NCIT:C3155 MONDO:0018592 cutaneous polyarteritis nodosa oio:hasExactSynonym cutaneous PAN cutaneous PAN Cutaneous PAN NCIT:C117295 Cutaneous Polyarteritis Nodosa cutaneous PAN NCIT:C117295 MONDO:0018604 familial colorectal cancer type X oio:hasExactSynonym familial colorectal cancer type X familial colorectal cancer type X Familial Colorectal Cancer Type X NCIT:C120084 Hereditary Colorectal Cancer Type X familial colorectal cancer type X NCIT:C120084 @@ -16469,15 +16189,14 @@ MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym Kutt MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym chronic sclerosing sialadenitis chronic sclerosing sialadenitis Chronic Sclerosing Sialadenitis NCIT:C82887 Chronic Sclerosing Sialadenitis chronic sclerosing sialadenitis NCIT:C82887 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia syndrome heterotaxia syndrome Heterotaxia Syndrome NCIT:C117273 Heterotaxy Syndrome heterotaxia syndrome NCIT:C117273 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy syndrome heterotaxy syndrome Heterotaxy Syndrome NCIT:C117273 Heterotaxy Syndrome heterotaxy syndrome NCIT:C117273 -MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus situs ambiguus Situs Ambiguus NCIT:C87121 Situs Inversus situs ambiguus NCIT:C87121 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphadenosis Benigna cutis lymphadenosis Benigna cutis Lymphadenosis Benigna Cutis NCIT:C62776 Cutaneous Pseudolymphoma lymphadenosis Benigna cutis NCIT:C62776 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphocytoma cutis lymphocytoma cutis Lymphocytoma Cutis NCIT:C62776 Cutaneous Pseudolymphoma lymphocytoma cutis NCIT:C62776 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym pseudolymphoma of Spiegler pseudolymphoma of Spiegler Pseudolymphoma of Spiegler NCIT:C62776 Cutaneous Pseudolymphoma pseudolymphoma of Spiegler NCIT:C62776 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired Ichthyosis NCIT:C112831 Ichthyosis Acquisita acquired ichthyosis NCIT:C112831 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym ichthyosis acquisita ichthyosis acquisita Ichthyosis Acquisita NCIT:C112831 Ichthyosis Acquisita ichthyosis acquisita NCIT:C112831 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym leukemia plasmacytic leukemia plasmacytic Leukemia Plasmacytic NCIT:C3180 Plasma Cell Leukemia leukemia plasmacytic NCIT:C3180 -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma cell leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 +MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic Leukemia NCIT:C3180 Plasma Cell Leukemia plasmacytic leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic leukemia NCIT:C3180 Plasma Cell Leukemia plasmacytic leukemia NCIT:C3180 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome NCIT:C34357 Holmes-Adie Syndrome Adie Syndrome NCIT:C34357 @@ -16490,8 +16209,8 @@ MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym tracheoes MONDO:0018712 composite hemangioendothelioma oio:hasExactSynonym composite hemangioendothelioma composite hemangioendothelioma Composite Hemangioendothelioma NCIT:C45475 Composite Hemangioendothelioma composite hemangioendothelioma NCIT:C45475 MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym hobnail hemangioendothelioma hobnail hemangioendothelioma Hobnail Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma hobnail hemangioendothelioma NCIT:C27511 MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym retiform hemangioendothelioma retiform hemangioendothelioma Retiform Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma retiform hemangioendothelioma NCIT:C27511 -MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 +MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym malignant endothelial papillary angioendothelioma malignant endothelial papillary angioendothelioma Malignant Endothelial Papillary Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma malignant endothelial papillary angioendothelioma NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary Endovascular angioendothelioma papillary Endovascular angioendothelioma Papillary Endovascular Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma papillary Endovascular angioendothelioma NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary intralymphatic angioendothelioma papillary intralymphatic angioendothelioma Papillary Intralymphatic Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma papillary intralymphatic angioendothelioma NCIT:C7526 @@ -16527,10 +16246,9 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly NCIT:C103921 Lissencephaly lissencephaly NCIT:C103921 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis Congenital Hepatic Fibrosis NCIT:C97071 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym congenital hepatic fibrosis congenital hepatic fibrosis Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis congenital hepatic fibrosis NCIT:C97071 -MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary effusion lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 +MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym PEL NCIT:C6915 Primary Effusion Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PEL NCIT:C6915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma central nervous system embryonal carcinoma NCIT:C5790 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma central nervous system embryonal carcinoma NCIT:C7010 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal Carcinoma of CNS NCIT:C7010 Central Nervous System Embryonal Carcinoma embryonal carcinoma of CNS NCIT:C7010 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of the central nervous system embryonal carcinoma of the central nervous system Embryonal Carcinoma of the Central Nervous System NCIT:C7010 Central Nervous System Embryonal Carcinoma embryonal carcinoma of the central nervous system NCIT:C7010 @@ -16541,17 +16259,17 @@ MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym Retrope MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym retroperitoneal fibrosis retroperitoneal fibrosis Retroperitoneal Fibrosis NCIT:C26876 Retroperitoneal Fibrosis retroperitoneal fibrosis NCIT:C26876 MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta dentinogenesis imperfecta Dentinogenesis Imperfecta NCIT:C84667 Dentinogenesis Imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dentinogenesis imperfecta NCIT:C84667 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar cyst Pilar cyst Pilar Cyst NCIT:C27125 Proliferating Trichilemmal Tumor Pilar cyst NCIT:C27125 -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor Pilar tumor Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Pilar tumor proliferating Pilar tumor Proliferating Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Tricholemmal tumor proliferating Tricholemmal tumor Proliferating Tricholemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating Tricholemmal tumor NCIT:C27125 -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating trichilemmal tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia achromatopsia Achromatopsia NCIT:C84528 Achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achromatopsia NCIT:C84528 MONDO:0018864 Kikuchi-Fujimoto disease oio:hasExactSynonym histiocytic necrotizing lymphadenitis histiocytic necrotizing lymphadenitis Histiocytic Necrotizing Lymphadenitis NCIT:C71719 Kikuchi-Fujimoto Disease histiocytic necrotizing lymphadenitis NCIT:C71719 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute M4 myeloid leukemia acute M4 myeloid leukemia Acute M4 Myeloid Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute M4 myeloid leukemia NCIT:C7463 -MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 +MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia (FAB type M4) acute myelomonocytic leukemia (FAB type M4) Acute Myelomonocytic Leukemia (FAB Type M4) NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia (FAB type M4) NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym AMML NCIT:C7463 Acute Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMML NCIT:C7463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym FAB M7 FAB M7 Fab M7 NCIT:C3170 Acute Megakaryoblastic Leukemia FAB M7 NCIT:C3170 @@ -16569,10 +16287,10 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leu MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leukemia acute granulocytic leukemia Acute Granulocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute granulocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute myeloblastic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myeloblastic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute Myeloblastic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myeloblastic leukemia NCIT:C3171 -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute Myelocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute myelogenous leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemias acute myelogenous leukemias Acute Myelogenous Leukemias NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemias NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C3171 @@ -16581,7 +16299,6 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym hematopoeitic - acute MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acute myeloid leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AML NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym ANLL NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ANLL NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C9160 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni Familial Cancer Susceptibility Syndrome NCIT:C3476 Li-Fraumeni Syndrome Li-Fraumeni familial cancer susceptibility syndrome NCIT:C3476 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome NCIT:C3476 Li-Fraumeni Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome NCIT:C3476 MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym classical mantle cell lymphoma classical mantle cell lymphoma Classical Mantle Cell Lymphoma NCIT:C4337 Mantle Cell Lymphoma classical mantle cell lymphoma NCIT:C4337 @@ -16600,7 +16317,6 @@ MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym oligoblastic leukemi MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym preleukemia preleukemia Preleukemia NCIT:C3247 Myelodysplastic Syndrome preleukemia NCIT:C3247 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym smoldering leukemia smoldering leukemia Smoldering Leukemia NCIT:C3247 Myelodysplastic Syndrome smoldering leukemia NCIT:C3247 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS NCIT:C3247 Myelodysplastic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS NCIT:C3247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome myelodysplastic syndrome NCIT:C68744 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli Seip syndrome Berardinelli Seip syndrome Berardinelli Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Berardinelli Seip syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli lipodystrophy syndrome Berardinelli lipodystrophy syndrome Berardinelli Lipodystrophy Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Berardinelli lipodystrophy syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Seip-Bernardinelli syndrome Seip-Bernardinelli syndrome Seip-Bernardinelli Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Seip-Bernardinelli syndrome NCIT:C84594 @@ -16647,20 +16363,16 @@ MONDO:0018908 non-Hodgkin lymphoma oio:hasExactSynonym NHL NCIT:C3211 Non-Hod MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young maturity onset diabetes of the young NCIT:C114769 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maturity-onset diabetes of the young NCIT:C114769 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY NCIT:C114769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C129739 Monogenic Diabetes maturity onset diabetes of the young NCIT:C129739 -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C129739 Monogenic Diabetes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY NCIT:C129739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome Cushing syndrome Cushing Syndrome NCIT:C2969 Cushing Syndrome Cushing syndrome NCIT:C2969 MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing's syndrome Cushing's syndrome Cushing's Syndrome NCIT:C2969 Cushing Syndrome Cushing's syndrome NCIT:C2969 MONDO:0018912 Cushing syndrome oio:hasExactSynonym cortisol Excess cortisol Excess Cortisol Excess NCIT:C2969 Cushing Syndrome cortisol Excess NCIT:C2969 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome McCune Albright Syndrome NCIT:C48627 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright syndrome McCune Albright syndrome McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome McCune Albright syndrome NCIT:C48627 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym peripartum cardiomyopathy peripartum cardiomyopathy Peripartum Cardiomyopathy NCIT:C171602 Peripartum Cardiomyopathy peripartum cardiomyopathy NCIT:C171602 MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome NCIT:C98978 Meckel-Gruber Syndrome Meckel-Gruber syndrome NCIT:C98978 -MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy Cell Leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 +MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia leukemic reticuloendotheliosis NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic Reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia leukemic reticuloendotheliosis NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym HCL NCIT:C7402 Hairy Cell Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCL NCIT:C7402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -16693,8 +16405,8 @@ MONDO:0018963 hereditary methemoglobinemia oio:hasExactSynonym congenital methe MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport's syndrome Alport's syndrome Alport's Syndrome NCIT:C34842 Alport Syndrome Alport's syndrome NCIT:C34842 MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome Alport syndrome Alport Syndrome NCIT:C34842 Alport Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alport syndrome NCIT:C34842 MONDO:0018969 craniorachischisis oio:hasExactSynonym cranial rachischisis cranial rachischisis Cranial Rachischisis NCIT:C98907 Craniorachischisis cranial rachischisis NCIT:C98907 -MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis CRANIORACHISCHISIS NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 +MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 Neurofibromatosis 1 NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis 1 neurofibromatosis 1 Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 neurofibromatosis 1 NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym peripheral neurofibromatosis peripheral neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 peripheral neurofibromatosis NCIT:C3273 @@ -16716,8 +16428,6 @@ MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic cerebella MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma dysplastic gangliocytoma of cerebellum NCIT:C8419 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic Gangliocytoma of the Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma dysplastic gangliocytoma of the cerebellum NCIT:C8419 MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple Endocrine Neoplasia Type 2 NCIT:C123329 Multiple Endocrine Neoplasia Type 2 multiple endocrine neoplasia type 2 NCIT:C123329 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' Tumor NCIT:C3267 Wilms Tumor Wilms' Tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym nephroblastoma nephroblastoma Nephroblastoma NCIT:C3267 Wilms Tumor nephroblastoma NCIT:C3267 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms tumor of the kidney Wilms tumor of the kidney Wilms Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor Wilms tumor of the kidney NCIT:C40407 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' tumor of the kidney Wilms' tumor of the kidney Wilms' Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor Wilms' tumor of the kidney NCIT:C40407 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor kidney Wilms tumor NCIT:C40407 @@ -16728,28 +16438,26 @@ MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym renal Wilms' tumor renal W MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis NCIT:C123200 Nephronophthisis nephronophthisis NCIT:C123200 MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy persistent hyperinsulinemic hypoglycemia of infancy Persistent Hyperinsulinemic Hypoglycemia of Infancy NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy persistent hyperinsulinemic hypoglycemia of infancy NCIT:C122923 MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym PHHI NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHHI NCIT:C122923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter 's syndrome Carpenter 's syndrome Carpenter 's Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly Carpenter 's syndrome NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome Carpenter Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly Carpenter syndrome NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type II acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II NCIT:C98873 Type II Acrocephalopolysyndactyly acrocephalopolysyndactyly type II NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly NCIT:C98873 Type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly NCIT:C98873 MONDO:0019015 omphalocele oio:hasExactSynonym congenital omphalocele congenital omphalocele Congenital Omphalocele NCIT:C98997 Omphalocele congenital omphalocele NCIT:C98997 MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos NCIT:C98997 Omphalocele exomphalos NCIT:C98997 -MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele omphalocele NCIT:C98997 MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele Omphalocele NCIT:C98997 Omphalocele omphalocele NCIT:C98997 +MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele omphalocele NCIT:C98997 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo cardiomyopathy Takotsubo cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo cardiomyopathy NCIT:C85181 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo syndrome Takotsubo syndrome Takotsubo Syndrome NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo syndrome NCIT:C85181 -MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous (skin) mastocytosis cutaneous (skin) mastocytosis Cutaneous (Skin) Mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous (skin) mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous Mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast Cell Sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 +MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS NCIT:C9348 Mast Cell Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCS NCIT:C9348 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 +MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive osteopetrosis autosomal recessive osteopetrosis Autosomal Recessive Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis autosomal recessive osteopetrosis NCIT:C129733 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski Syndrome NCIT:C85028 Progressive Supranuclear Palsy Steele-Richardson-Olszewski syndrome NCIT:C85028 MONDO:0019040 chromosomal disorder oio:hasExactSynonym chromosome disorder chromosome disorder Chromosome Disorder NCIT:C34470 Chromosome Disorder chromosome disorder NCIT:C34470 @@ -16761,8 +16469,6 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym inborn errors of MONDO:0019053 peroxisomal disease oio:hasExactSynonym disorder of peroxisomal function disorder of peroxisomal function Disorder of Peroxisomal Function NCIT:C85005 Peroxisomal Disorder disorder of peroxisomal function NCIT:C85005 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disorder peroxisomal disorder Peroxisomal Disorder NCIT:C85005 Peroxisomal Disorder peroxisomal disorder NCIT:C85005 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal function disorder peroxisomal function disorder Peroxisomal Function Disorder NCIT:C85005 Peroxisomal Disorder peroxisomal function disorder NCIT:C85005 -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm osseous neoplasm NCIT:C6603 -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm osseous tumor NCIT:C6603 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm bone neoplasm NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasms bone neoplasms Bone Neoplasms NCIT:C9343 Bone Neoplasm bone neoplasms NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm bone tumor NCIT:C9343 @@ -16773,7 +16479,6 @@ MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neopla MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm osseous tumor NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of bone tumor of bone Tumor of Bone NCIT:C9343 Bone Neoplasm tumor of bone NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of the bone tumor of the bone Tumor of the Bone NCIT:C9343 Bone Neoplasm tumor of the bone NCIT:C9343 -MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym HSP NCIT:C34963 Henoch-Schönlein Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSP NCIT:C34963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019065 amyloidosis oio:hasExactSynonym amyloidosis amyloidosis Amyloidosis NCIT:C2868 Amyloidosis amyloidosis NCIT:C2868 MONDO:0019077 warty dyskeratoma oio:hasExactSynonym follicular dyskeratoma follicular dyskeratoma Follicular Dyskeratoma NCIT:C4087 Warty Dyskeratoma follicular dyskeratoma NCIT:C4087 MONDO:0019077 warty dyskeratoma oio:hasExactSynonym isolated follicular keratosis isolated follicular keratosis Isolated Follicular Keratosis NCIT:C4087 Warty Dyskeratoma isolated follicular keratosis NCIT:C4087 @@ -16783,7 +16488,6 @@ MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of the esophagus carcinoma of the esophagus Carcinoma of the Esophagus NCIT:C3513 Esophageal Carcinoma carcinoma of the esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma esophageal carcinoma Esophageal Carcinoma NCIT:C3513 Esophageal Carcinoma esophageal carcinoma NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophagus carcinoma esophagus carcinoma Esophagus Carcinoma NCIT:C3513 Esophageal Carcinoma esophagus carcinoma NCIT:C3513 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA NCIT:C129865 Congenital Contractural Arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA NCIT:C129865 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym Cholangiocellular carcinoma Cholangiocellular carcinoma Cholangiocellular Carcinoma NCIT:C4436 Cholangiocarcinoma Cholangiocellular carcinoma NCIT:C4436 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma NCIT:C4436 Cholangiocarcinoma cholangiocarcinoma NCIT:C4436 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma, malignant cholangiocarcinoma, malignant CHOLANGIOCARCINOMA, MALIGNANT NCIT:C4436 Cholangiocarcinoma cholangiocarcinoma, malignant NCIT:C4436 @@ -16803,7 +16507,6 @@ MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis jirovecii pneumon MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis pneumonia Pneumocystis pneumonia Pneumocystis Pneumonia NCIT:C3334 Pneumocystis Pneumonia Pneumocystis pneumonia NCIT:C3334 MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019121 pneumocystosis oio:hasExactSynonym PJP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PJP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C4725 Papillary Craniopharyngioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCP NCIT:C4725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler syndrome Loffler syndrome Loffler Syndrome NCIT:C35301 Loffler Syndrome Loffler syndrome NCIT:C35301 MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler's syndrome Loffler's syndrome Loffler's Syndrome NCIT:C35301 Loffler Syndrome Loffler's syndrome NCIT:C35301 MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Löffler syndrome Löffler syndrome Löffler Syndrome NCIT:C35301 Loffler Syndrome Löffler syndrome NCIT:C35301 @@ -16851,7 +16554,6 @@ MONDO:0019187 Axenfeld-Rieger syndrome oio:hasExactSynonym Rieger syndrome Rieg MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome NCIT:C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome NCIT:C75466 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis oio:hasExactSynonym Mikulicz disease Mikulicz disease Mikulicz Disease NCIT:C34819 Mikulicz Disease Mikulicz disease NCIT:C34819 MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym acquired generalized lipodystrophy acquired generalized lipodystrophy Acquired Generalized Lipodystrophy NCIT:C131089 Acquired Generalized Lipodystrophy acquired generalized lipodystrophy NCIT:C131089 -MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Lawrence-Seip syndrome NCIT:C84594 MONDO:0019194 localized lipodystrophy oio:hasExactSynonym focal lipodystrophy focal lipodystrophy Focal Lipodystrophy NCIT:C131814 Focal Lipodystrophy focal lipodystrophy NCIT:C131814 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis Pigmentosa NCIT:C85045 Retinitis Pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa NCIT:C85045 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma NCIT:C6496 Myxofibrosarcoma fibromyxosarcoma NCIT:C6496 @@ -16886,8 +16588,8 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticari MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa/maculopapular cutaneous mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis NCIT:C3433 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION UP/MPCM NCIT:C3433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019319 verrucous nevus oio:hasExactSynonym verrucous Epidermal Nevus verrucous Epidermal Nevus Verrucous Epidermal Nevus NCIT:C4674 Verrucous Nevus verrucous Epidermal Nevus NCIT:C4674 -MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous Lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 +MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner syndrome Gardner syndrome Gardner Syndrome NCIT:C6728 Gardner Syndrome Gardner syndrome NCIT:C6728 MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner's syndrome Gardner's syndrome Gardner's Syndrome NCIT:C6728 Gardner Syndrome Gardner's syndrome NCIT:C6728 MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoid sarcoid Sarcoid NCIT:C34995 Sarcoidosis sarcoid NCIT:C34995 @@ -16912,13 +16614,13 @@ MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus e MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus fever epidemic typhus fever Epidemic Typhus Fever NCIT:C84689 Epidemic Louse-Borne Typhus epidemic typhus fever NCIT:C84689 MONDO:0019372 solitary bone cyst oio:hasExactSynonym simple bone cyst simple bone cyst Simple Bone Cyst NCIT:C2904 Simple Bone Cyst simple bone cyst NCIT:C2904 MONDO:0019372 solitary bone cyst oio:hasExactSynonym unicameral bone cyst unicameral bone cyst Unicameral Bone Cyst NCIT:C2904 Simple Bone Cyst unicameral bone cyst NCIT:C2904 -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor Desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell neoplasm Desmoplastic small round-cell neoplasm Desmoplastic Small Round-Cell Neoplasm NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round-cell neoplasm NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell tumor Desmoplastic small round-cell tumor Desmoplastic Small Round-Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round-cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Polyphenotypic small round cell tumor Polyphenotypic small round cell tumor Polyphenotypic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Polyphenotypic small round cell tumor NCIT:C8300 -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym DSRCT NCIT:C8300 Desmoplastic Small Round Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSRCT NCIT:C8300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019380 western equine encephalitis oio:hasExactSynonym Western equine encephalomyelitis Western equine encephalomyelitis Western Equine Encephalomyelitis NCIT:C85227 Western Equine Encephalomyelitis Western equine encephalomyelitis NCIT:C85227 MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym acute disseminated encephalomyelitis acute disseminated encephalomyelitis Acute Disseminated Encephalomyelitis NCIT:C34578 Acute Disseminated Encephalomyelitis acute disseminated encephalomyelitis NCIT:C34578 @@ -16932,8 +16634,8 @@ MONDO:0019391 Fanconi anemia oio:hasExactSynonym primary erythroid hypoplasia p MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia Fanconi Anemia NCIT:C62505 Fanconi Anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia NCIT:C62505 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum Syringadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary Syringadenoma papillary Syringadenoma Papillary Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary Syringadenoma NCIT:C4172 -MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary Syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 +MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma papilliferum NCIT:C4172 Syringocystadenoma Papilliferum syringocystadenoma papilliferum NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma Papilliferum NCIT:C4172 Syringocystadenoma Papilliferum syringocystadenoma papilliferum NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym SCAP NCIT:C4172 Syringocystadenoma Papilliferum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAP NCIT:C4172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -16953,8 +16655,8 @@ MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynon MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym ERA era ERA NCIT:C119024 Enthesitis-Related Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERA NCIT:C119024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary Amyloidosis NCIT:C3818 Secondary Amyloidosis secondary amyloidosis NCIT:C3818 MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis NCIT:C85199 Trichinosis trichinosis NCIT:C85199 -MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic neutrophilic leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 +MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym neutrophilic leukemia neutrophilic leukemia Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia neutrophilic leukemia NCIT:C3179 MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified CMPD, U NCIT:C27350 MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym MPN, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified MPN, U NCIT:C27350 @@ -16970,8 +16672,8 @@ MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactS MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym MDS-MLD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-MLD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym RCMD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCMD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym myelodysplastic syndrome with Excess blasts myelodysplastic syndrome with Excess blasts Myelodysplastic Syndrome with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts myelodysplastic syndrome with Excess blasts NCIT:C7506 -MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory anemia with excess blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 +MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with an Excess of blasts refractory Anemia with an Excess of blasts Refractory Anemia with an Excess of Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with an Excess of blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym MDS-EB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-EB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym RAEB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAEB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17000,8 +16702,8 @@ MONDO:0019461 B-cell prolymphocytic leukemia oio:hasExactSynonym B-cell prolymp MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of spleen marginal zone lymphoma of spleen Marginal Zone Lymphoma of Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma marginal zone lymphoma of spleen NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of the spleen marginal zone lymphoma of the spleen Marginal Zone Lymphoma of the Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma marginal zone lymphoma of the spleen NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic lymphoma with circulating villous lymphocytes splenic lymphoma with circulating villous lymphocytes Splenic Lymphoma with Circulating Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic lymphoma with circulating villous lymphocytes NCIT:C4663 -MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic Marginal Zone B-Cell Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 +MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma with villous lymphocytes splenic marginal zone B-cell lymphoma with villous lymphocytes Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma with villous lymphocytes NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma splenic marginal zone lymphoma Splenic Marginal Zone Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma with villous lymphocytes splenic marginal zone lymphoma with villous lymphocytes Splenic Marginal Zone Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone lymphoma with villous lymphocytes NCIT:C4663 @@ -17009,11 +16711,11 @@ MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SLVL NCIT:C4 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SMZL NCIT:C4663 Splenic Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMZL NCIT:C4663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019464 heavy chain disease oio:hasExactSynonym heavy chain disease heavy chain disease Heavy Chain Disease NCIT:C3082 Heavy Chain Disease heavy chain disease NCIT:C3082 MONDO:0019464 heavy chain disease oio:hasExactSynonym HCD NCIT:C3082 Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCD NCIT:C3082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma Monocytoid B-cell lymphoma Monocytoid B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone B-cell lymphoma nodal marginal zone B-cell lymphoma Nodal Marginal Zone B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone B-cell lymphoma NCIT:C8863 -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal Marginal Zone Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 MONDO:0019466 lymphomatoid granulomatosis oio:hasExactSynonym LYG NCIT:C7930 Lymphomatoid Granulomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LYG NCIT:C7930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ Hematodermic Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm CD4+/CD56+ hematodermic neoplasm NCIT:C7203 MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym agranular CD4+ CD56+ hematodermic neoplasm/tumor agranular CD4+ CD56+ hematodermic neoplasm/tumor Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm agranular CD4+ CD56+ hematodermic neoplasm/tumor NCIT:C7203 @@ -17031,8 +16733,8 @@ MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T prolymphocyt MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T-cell prolymphocytic leukemia T-cell prolymphocytic leukemia T-Cell Prolymphocytic Leukemia NCIT:C4752 T-Cell Prolymphocytic Leukemia T-cell prolymphocytic leukemia NCIT:C4752 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T gamma lymphoproliferative disorder T gamma lymphoproliferative disorder T Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T gamma lymphoproliferative disorder NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia T-Cell Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocyte leukemia NCIT:C4664 -MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 +MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-gamma lymphoproliferative disorder T-gamma lymphoproliferative disorder T-Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-gamma lymphoproliferative disorder NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym Tgamma large granular lymphocyte leukemia Tgamma large granular lymphocyte leukemia Tgamma Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia Tgamma large granular lymphocyte leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym large cell granular lymphogenous leukemia large cell granular lymphogenous leukemia Large Cell Granular Lymphogenous Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia large cell granular lymphogenous leukemia NCIT:C4664 @@ -17049,14 +16751,14 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukemia natural killer cell leukemia Natural Killer Cell Leukemia NCIT:C8647 Aggressive NK-Cell Leukemia natural killer cell leukemia NCIT:C8647 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma adult T-cell leukemia/lymphoma NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL NCIT:C3184 Adult T-Cell Leukemia/Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLL NCIT:C3184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-Cell Lymphoma, Nasal Type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 +MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma angiocentric T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-cell lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma angiocentric T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma Nasal Type Extranodal NK/T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma nasal type Extranodal NK/T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym reticulosis, malignant reticulosis, malignant RETICULOSIS, MALIGNANT NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma reticulosis, malignant NCIT:C4684 -MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy Associated T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 +MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy-type T-cell lymphoma enteropathy-type T-cell lymphoma Enteropathy-Type T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy-type T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym EATL NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EATL NCIT:C4737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019474 hepatosplenic T-cell lymphoma oio:hasExactSynonym Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic Gamma/Delta T-Cell Lymphoma NCIT:C8459 Hepatosplenic T-Cell Lymphoma Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459 @@ -17071,8 +16773,8 @@ MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExact MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma NCIT:C27349 Histiocytic Sarcoma histiocytic sarcoma NCIT:C27349 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic Sarcoma NCIT:C27349 Histiocytic Sarcoma histiocytic sarcoma NCIT:C27349 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym sarcoma, histiocytic, malignant sarcoma, histiocytic, malignant SARCOMA, HISTIOCYTIC, MALIGNANT NCIT:C27349 Histiocytic Sarcoma sarcoma, histiocytic, malignant NCIT:C27349 -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 +MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferative disorder methotrexate-associated lymphoproliferative disorder Methotrexate-Associated Lymphoproliferative Disorder NCIT:C7184 Methotrexate-Associated Lymphoproliferative Disorder methotrexate-associated lymphoproliferative disorder NCIT:C7184 MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm neuroendocrine neoplasm Neuroendocrine Neoplasm NCIT:C3809 Neuroendocrine Neoplasm neuroendocrine neoplasm NCIT:C3809 MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine tumor neuroendocrine tumor Neuroendocrine Tumor NCIT:C3809 Neuroendocrine Neoplasm neuroendocrine tumor NCIT:C3809 @@ -17180,7 +16882,6 @@ MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD NCIT:C27 MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym congenital malformation syndrome congenital malformation syndrome Congenital Malformation Syndrome NCIT:C99267 Congenital Malformation Syndrome congenital malformation syndrome NCIT:C99267 MONDO:0019759 epispadias oio:hasExactSynonym epispadias epispadias Epispadias NCIT:C98923 Epispadias epispadias NCIT:C98923 MONDO:0019781 astrocytoma (excluding glioblastoma) oio:hasExactSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS astrocytoma NCIT:C60781 -MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym acrocephalosyndactyly acrocephalosyndactyly Acrocephalosyndactyly NCIT:C34348 Acrocephalosyndactyly acrocephalosyndactyly NCIT:C34348 MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym Addisonian crisis Addisonian crisis Addisonian Crisis NCIT:C112840 Adrenal Crisis Addisonian crisis NCIT:C112840 MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym adrenal crisis adrenal crisis Adrenal Crisis NCIT:C112840 Adrenal Crisis adrenal crisis NCIT:C112840 @@ -17306,12 +17007,12 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym pri MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMBL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMBL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMLCL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMLCL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic large cell lymphoma angiotropic large cell lymphoma Angiotropic Large Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic large cell lymphoma NCIT:C4342 -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular B-cell lymphoma NCIT:C4342 -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular Large B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym malignant angioendotheliomatosis malignant angioendotheliomatosis Malignant Angioendotheliomatosis NCIT:C4342 Intravascular Large B-Cell Lymphoma malignant angioendotheliomatosis NCIT:C4342 MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 Positive anaplastic large cell lymphoma CD30 Positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma CD30 Positive anaplastic large cell lymphoma NCIT:C3720 MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 positive anaplastic large cell lymphoma CD30 positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma CD30 positive anaplastic large cell lymphoma NCIT:C3720 @@ -17346,7 +17047,6 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSyn MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSynonym Partial anomalous pulmonary Venous return Partial anomalous pulmonary Venous return Partial Anomalous Pulmonary Venous Return NCIT:C99004 Partial Anomalous Pulmonary Venous Return Partial anomalous pulmonary Venous return NCIT:C99004 MONDO:0020481 myotonia fluctuans oio:hasExactSynonym exercise-induced delayed-onset myotonia exercise-induced delayed-onset myotonia Exercise-Induced Delayed-Onset Myotonia NCIT:C122789 Myotonia Fluctuans exercise-induced delayed-onset myotonia NCIT:C122789 MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020491 subcortical band heterotopia oio:hasExactSynonym double cortex syndrome double cortex syndrome Double Cortex Syndrome NCIT:C116933 Double Cortex Syndrome double cortex syndrome NCIT:C116933 MONDO:0020492 hemimegalencephaly oio:hasExactSynonym unilateral megalencephaly unilateral megalencephaly Unilateral Megalencephaly NCIT:C177779 Hemimegalencephaly unilateral megalencephaly NCIT:C177779 MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym Marburg virus disease Marburg virus disease Marburg Virus Disease NCIT:C84883 Marburg Virus Disease Marburg virus disease NCIT:C84883 @@ -17362,8 +17062,8 @@ MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocyt MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma Thymic Neuroendocrine Carcinoma NCIT:C171031 Thymic Neuroendocrine Carcinoma thymic neuroendocrine carcinoma NCIT:C171031 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym Monostotic Langerhans cell histiocytosis Monostotic Langerhans cell histiocytosis Monostotic Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma Monostotic Langerhans cell histiocytosis NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym chronic unifocal Langerhans cell histiocytosis chronic unifocal Langerhans cell histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma chronic unifocal Langerhans cell histiocytosis NCIT:C3016 -MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic Granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 +MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic xanthomatous granuloma eosinophilic xanthomatous granuloma Eosinophilic Xanthomatous Granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic xanthomatous granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym unifocal Langerhans cell histiocytosis unifocal Langerhans cell histiocytosis Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma unifocal Langerhans cell histiocytosis NCIT:C3016 MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym classic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis Classic Multifocal Langerhans Cell Histiocytosis NCIT:C6920 Hand-Schuller-Christian Disease classic multifocal Langerhans cell histiocytosis NCIT:C6920 @@ -17396,10 +17096,10 @@ MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma dest MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma Destruens NCIT:C6985 Invasive Hydatidiform Mole chorioadenoma destruens NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive Mole invasive Mole Invasive Mole NCIT:C6985 Invasive Hydatidiform Mole invasive Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive gestational trophoblastic neoplasm invasive gestational trophoblastic neoplasm Invasive Gestational Trophoblastic Neoplasm NCIT:C6985 Invasive Hydatidiform Mole invasive gestational trophoblastic neoplasm NCIT:C6985 -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 MONDO:0020550 gestational choriocarcinoma oio:hasExactSynonym gestational choriocarcinoma gestational choriocarcinoma Gestational Choriocarcinoma NCIT:C4646 Gestational Choriocarcinoma gestational choriocarcinoma NCIT:C4646 MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site gestational trophoblastic tumor placental site gestational trophoblastic tumor Placental Site Gestational Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor placental site gestational trophoblastic tumor NCIT:C3757 MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site trophoblastic tumor placental site trophoblastic tumor Placental Site Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor placental site trophoblastic tumor NCIT:C3757 @@ -17440,10 +17140,10 @@ MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tum MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tumor of the central nervous system rhabdoid tumor of the central nervous system Rhabdoid Tumor of the Central Nervous System NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor rhabdoid tumor of the central nervous system NCIT:C6906 MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATRT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic Liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 -MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 +MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 +MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym DDLPS NCIT:C3704 Dedifferentiated Liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DDLPS NCIT:C3704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym CRPS II NCIT:C121572 Complex Regional Pain Syndrome II CRPS II NCIT:C121572 MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym Complex regional pain syndrome II Complex regional pain syndrome II Complex Regional Pain Syndrome II NCIT:C121572 Complex Regional Pain Syndrome II Complex regional pain syndrome II NCIT:C121572 @@ -17453,7 +17153,6 @@ MONDO:0020575 polymorphic ventricular tachycardia oio:hasExactSynonym polymorph MONDO:0020576 cutaneous vasculitis oio:hasExactSynonym cutaneous vasculitis cutaneous vasculitis Cutaneous Vasculitis NCIT:C112210 Cutaneous Vasculitis cutaneous vasculitis NCIT:C112210 MONDO:0020577 childhood gonadal germ cell tumor oio:hasExactSynonym childhood gonadal germ cell tumor childhood gonadal germ cell tumor Childhood Gonadal Germ Cell Tumor NCIT:C114801 Childhood Gonadal Germ Cell Tumor childhood gonadal germ cell tumor NCIT:C114801 MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis mucositis NCIT:C115965 -MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis mucositis NCIT:C3853 MONDO:0020580 germinomatous germ cell tumor oio:hasExactSynonym germinomatous germ cell tumor germinomatous germ cell tumor Germinomatous Germ Cell Tumor NCIT:C121618 Germinomatous Germ Cell Tumor germinomatous germ cell tumor NCIT:C121618 MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa benign PEComa Benign PEComa NCIT:C121791 Benign PEComa benign PEComa NCIT:C121791 MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa, nos benign PEComa, nos Benign PEComa, NOS NCIT:C121791 Benign PEComa benign PEComa, nos NCIT:C121791 @@ -17493,13 +17192,11 @@ MONDO:0020599 acquired coagulation factor deficiency oio:hasExactSynonym acquir MONDO:0020600 acute pharyngitis oio:hasExactSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis acute pharyngitis NCIT:C34355 MONDO:0020601 mosquito-borne viral encephalitis oio:hasExactSynonym mosquito-borne viral encephalitis mosquito-borne viral encephalitis Mosquito-Borne Viral Encephalitis NCIT:C34823 Mosquito-Borne Viral Encephalitis mosquito-borne viral encephalitis NCIT:C34823 MONDO:0020633 anaplastic cancer oio:hasExactSynonym anaplastic malignant neoplasm anaplastic malignant neoplasm Anaplastic Malignant Neoplasm NCIT:C36025 Anaplastic Malignant Neoplasm anaplastic malignant neoplasm NCIT:C36025 -MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma Who Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 +MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym grade 3 meningioma grade 3 meningioma Grade 3 Meningioma NCIT:C38938 Grade 3 Meningioma grade 3 meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym grade III meningioma grade III meningioma Grade III Meningioma NCIT:C38938 Grade 3 Meningioma grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma meningioma, malignant NCIT:C38938 -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma meningioma, malignant NCIT:C4051 -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma meningioma, malignant NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic (malignant) meningioma anaplastic (malignant) meningioma Anaplastic (Malignant) Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma anaplastic (malignant) meningioma NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic meningioma anaplastic meningioma Anaplastic Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma anaplastic meningioma NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym malignant meningioma malignant meningioma Malignant Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma malignant meningioma NCIT:C4051 @@ -17551,8 +17248,8 @@ MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactS MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papilloma virus-related squamous cell carcinoma human papilloma virus-related squamous cell carcinoma Human Papilloma Virus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma human papilloma virus-related squamous cell carcinoma NCIT:C27683 MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papillomavirus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma Human Papillomavirus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma human papillomavirus-related squamous cell carcinoma NCIT:C27683 MONDO:0020660 osteoblastic osteosarcoma oio:hasExactSynonym osteoblastic osteosarcoma osteoblastic osteosarcoma Osteoblastic Osteosarcoma NCIT:C53953 Osteoblastic Osteosarcoma osteoblastic osteosarcoma NCIT:C53953 -MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated Round Cell Sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 +MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous neoplasm borderline ovarian serous neoplasm Borderline Ovarian Serous Neoplasm NCIT:C5226 Borderline Ovarian Serous Tumor borderline ovarian serous neoplasm NCIT:C5226 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous tumor borderline ovarian serous tumor Borderline Ovarian Serous Tumor NCIT:C5226 Borderline Ovarian Serous Tumor borderline ovarian serous tumor NCIT:C5226 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline serous neoplasm of ovary borderline serous neoplasm of ovary Borderline Serous Neoplasm of Ovary NCIT:C5226 Borderline Ovarian Serous Tumor borderline serous neoplasm of ovary NCIT:C5226 @@ -17621,7 +17318,6 @@ MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym brachial amyotr MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym flail arm syndrome flail arm syndrome Flail Arm Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia flail arm syndrome NCIT:C133085 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym man-in-barrel syndrome man-in-barrel syndrome Man-in-barrel Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia man-in-barrel syndrome NCIT:C133085 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020710 amnionitis oio:hasExactSynonym amnionitis amnionitis Amnionitis NCIT:C50459 Amnionitis amnionitis NCIT:C50459 MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym 46,XY sex reversal 1 46,XY sex reversal 1 46,XY Sex Reversal 1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 46,XY sex reversal 1 NCIT:C128188 MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym SRXY1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SRXY1 NCIT:C128188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17652,14 +17348,14 @@ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squamous cell carcinoma in situ skin squamous cell carcinoma in situ Skin Squamous Cell Carcinoma In Situ NCIT:C2906 Skin Squamous Cell Carcinoma In Situ skin squamous cell carcinoma in situ NCIT:C2906 MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of skin squamous cell carcinoma in situ of skin Squamous Cell Carcinoma in situ of Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ squamous cell carcinoma in situ of skin NCIT:C2906 MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of the skin squamous cell carcinoma in situ of the skin Squamous Cell Carcinoma in situ of the Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ squamous cell carcinoma in situ of the skin NCIT:C2906 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease Bowen disease Bowen Disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease of the skin Bowen disease of the skin Bowen Disease of the Skin NCIT:C62571 Bowen Disease of the Skin Bowen disease of the skin NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen's disease of the skin Bowen's disease of the skin Bowen's Disease of the Skin NCIT:C62571 Bowen Disease of the Skin Bowen's disease of the skin NCIT:C62571 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal Squamous Cell Carcinoma, Bowen Type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym cauda equina syndrome with neurogenic bladder cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder cauda equina syndrome with neurogenic bladder NCIT:C34453 MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym cerebrospinal fluid rhinorrhea cerebrospinal fluid rhinorrhea Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea cerebrospinal fluid rhinorrhea NCIT:C84627 MONDO:0020779 cartilage development disorder oio:hasExactSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder cartilage development disorder NCIT:C34466 @@ -17672,7 +17368,6 @@ MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynony MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynonym demyelinating disorder of central nervous system demyelinating disorder of central nervous system Demyelinating Disorder of Central Nervous System NCIT:C34526 Demyelinating Disorder of Central Nervous System demyelinating disorder of central nervous system NCIT:C34526 MONDO:0020801 rectal medullary carcinoma oio:hasExactSynonym rectal medullary carcinoma rectal medullary carcinoma Rectal Medullary Carcinoma NCIT:C60640 Rectal Medullary Carcinoma rectal medullary carcinoma NCIT:C60640 MONDO:0020804 basal cell carcinoma oio:hasExactSynonym malignant basal cell neoplasm malignant basal cell neoplasm Malignant Basal Cell Neoplasm NCIT:C156767 Basal Cell Carcinoma malignant basal cell neoplasm NCIT:C156767 -MONDO:0020804 basal cell carcinoma oio:hasExactSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma basal cell cancer NCIT:C2921 MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Tumor NCIT:C39966 MONDO:0020808 testicular sertoli cell tumor oio:hasExactSynonym Sertoli Cell Neoplasm of Testis NCIT:C4672 Testicular Sertoli Cell Tumor Sertoli Cell Neoplasm of Testis NCIT:C4672 @@ -17707,7 +17402,6 @@ MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy Nevu MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy nevus NCIT:C3074 Hairy Nevus hairy nevus NCIT:C3074 MONDO:0020980 hair nevus oio:hasExactSynonym nevoid hypertrichosis nevoid hypertrichosis Nevoid Hypertrichosis NCIT:C3074 Hairy Nevus nevoid hypertrichosis NCIT:C3074 MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym hereditary persistence of fetal hemoglobin hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin hereditary persistence of fetal hemoglobin NCIT:C129072 -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis hemochromatosis NCIT:C82892 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE-associated hereditary hemochromatosis HFE-associated hereditary hemochromatosis HFE-Associated Hereditary Hemochromatosis NCIT:C84764 HFE-Associated Hereditary Hemochromatosis HFE-associated hereditary hemochromatosis NCIT:C84764 MONDO:0021003 polydactyly oio:hasExactSynonym hyperdactyly hyperdactyly Hyperdactyly NCIT:C87110 Polydactyly hyperdactyly NCIT:C87110 MONDO:0021003 polydactyly oio:hasExactSynonym polydactylism polydactylism Polydactylism NCIT:C87110 Polydactyly polydactylism NCIT:C87110 @@ -17800,10 +17494,10 @@ MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal neoplasm vaginal neo MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm vaginal tumor NCIT:C3437 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Extra-adrenal paraganglioma parasympathetic Extra-adrenal paraganglioma Parasympathetic Extra-Adrenal Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic Extra-adrenal paraganglioma NCIT:C4217 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Paraganglionic neoplasm parasympathetic Paraganglionic neoplasm Parasympathetic Paraganglionic Neoplasm NCIT:C4217 Parasympathetic Paraganglioma parasympathetic Paraganglionic neoplasm NCIT:C4217 -MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 +MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid Body Paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym paraganglioma of carotid body paraganglioma of carotid body Paraganglioma of Carotid Body NCIT:C2932 Carotid Body Paraganglioma paraganglioma of carotid body NCIT:C2932 MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma bone sarcoma Bone Sarcoma NCIT:C9312 Bone Sarcoma bone sarcoma NCIT:C9312 MONDO:0021054 bone sarcoma oio:hasExactSynonym osseous sarcoma osseous sarcoma Osseous Sarcoma NCIT:C9312 Bone Sarcoma osseous sarcoma NCIT:C9312 @@ -17825,13 +17519,8 @@ MONDO:0021058 neoplastic syndrome oio:hasExactSynonym cancer-related syndrome c MONDO:0021058 neoplastic syndrome oio:hasExactSynonym neoplastic syndrome neoplastic syndrome Neoplastic Syndrome NCIT:C54705 Neoplastic Syndrome neoplastic syndrome NCIT:C54705 MONDO:0021058 neoplastic syndrome oio:hasExactSynonym tumor syndrome tumor syndrome Tumor Syndrome NCIT:C54705 Neoplastic Syndrome tumor syndrome NCIT:C54705 MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy NCIT:C179667 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL RASopathy NCIT:C179667 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 neurofibromatosis NCIT:C3273 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 peripheral Neurofibromatosis NCIT:C3273 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 acoustic neurofibromatosis NCIT:C3274 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis Central Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 central Neurofibromatosis NCIT:C3274 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis neurofibromatosis NCIT:C6727 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis syndrome neurofibromatosis syndrome Neurofibromatosis Syndrome NCIT:C6727 Neurofibromatosis neurofibromatosis syndrome NCIT:C6727 -MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma colon cancer NCIT:C4910 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon neoplasm, malignant colon neoplasm, malignant Colon Neoplasm, Malignant NCIT:C9242 Malignant Colon Neoplasm colon neoplasm, malignant NCIT:C9242 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon tumor, malignant colon tumor, malignant Colon Tumor, Malignant NCIT:C9242 Malignant Colon Neoplasm colon tumor, malignant NCIT:C9242 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym malignant colon neoplasm malignant colon neoplasm Malignant Colon Neoplasm NCIT:C9242 Malignant Colon Neoplasm malignant colon neoplasm NCIT:C9242 @@ -17846,8 +17535,8 @@ MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare tumor glomus jugulare tumor Glomus Jugulare Tumor NCIT:C3061 Jugulotympanic Paraganglioma glomus jugulare tumor NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugular paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugular paraganglioma NCIT:C3061 -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 +MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of glomus jugulare neoplasm of glomus jugulare Neoplasm of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma neoplasm of glomus jugulare NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of the glomus jugulare neoplasm of the glomus jugulare Neoplasm of the Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma neoplasm of the glomus jugulare NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym tumor of glomus jugulare tumor of glomus jugulare Tumor of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma tumor of glomus jugulare NCIT:C3061 @@ -17878,7 +17567,6 @@ MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumor ovarian tumor MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumors ovarian tumors Ovarian Tumors NCIT:C4984 Ovarian Neoplasm ovarian tumors NCIT:C4984 MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of ovary tumor of ovary Tumor of Ovary NCIT:C4984 Ovarian Neoplasm tumor of ovary NCIT:C4984 MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm tumor of the ovary NCIT:C4984 -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor Endocrine tumor Endocrine Tumor NCIT:C3010 Endocrine Neoplasm Endocrine tumor NCIT:C3010 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym endocrine neoplasm, malignant endocrine neoplasm, malignant Endocrine Neoplasm, Malignant NCIT:C3575 Malignant Endocrine Neoplasm endocrine neoplasm, malignant NCIT:C3575 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland neoplasm malignant endocrine gland neoplasm Malignant Endocrine Gland Neoplasm NCIT:C3575 Malignant Endocrine Neoplasm malignant endocrine gland neoplasm NCIT:C3575 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland tumor malignant endocrine gland tumor Malignant Endocrine Gland Tumor NCIT:C3575 Malignant Endocrine Neoplasm malignant endocrine gland tumor NCIT:C3575 @@ -17897,11 +17585,11 @@ MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of larynx neoplas MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of the larynx neoplasm of the larynx Neoplasm of the Larynx NCIT:C3156 Laryngeal Neoplasm neoplasm of the larynx NCIT:C3156 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym Chromaffinoma NCIT:C4216 Sympathetic Paraganglioma Chromaffinoma NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin neoplasm chromaffin neoplasm Chromaffin Neoplasm NCIT:C4216 Sympathetic Paraganglioma chromaffin neoplasm NCIT:C4216 -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic Paraganglionic neoplasm sympathetic Paraganglionic neoplasm Sympathetic Paraganglionic Neoplasm NCIT:C4216 Sympathetic Paraganglioma sympathetic Paraganglionic neoplasm NCIT:C4216 -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic Paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 MONDO:0021073 paraneoplastic syndrome oio:hasExactSynonym paraneoplastic syndrome paraneoplastic syndrome Paraneoplastic Syndrome NCIT:C3311 Paraneoplastic Syndrome paraneoplastic syndrome NCIT:C3311 MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous condition precancerous condition Precancerous Condition NCIT:C3341 Precancerous Condition precancerous condition NCIT:C3341 MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous state precancerous state Precancerous State NCIT:C3341 Precancerous Condition precancerous state NCIT:C3341 @@ -17918,8 +17606,8 @@ MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of exocrin MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of the exocrine pancreas tumor of the exocrine pancreas Tumor of the Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm tumor of the exocrine pancreas NCIT:C4445 MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic neoplasm cystic neoplasm Cystic Neoplasm NCIT:C6784 Cystic Neoplasm cystic neoplasm NCIT:C6784 MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic tumor cystic tumor Cystic Tumor NCIT:C6784 Cystic Neoplasm cystic tumor NCIT:C6784 -MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 +MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood neoplasm childhood neoplasm Childhood Neoplasm NCIT:C6283 Childhood Neoplasm childhood neoplasm NCIT:C6283 MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood tumor childhood tumor Childhood Tumor NCIT:C6283 Childhood Neoplasm childhood tumor NCIT:C6283 MONDO:0021079 childhood neoplasm oio:hasExactSynonym pediatric neoplasm pediatric neoplasm Pediatric Neoplasm NCIT:C6283 Childhood Neoplasm pediatric neoplasm NCIT:C6283 @@ -17949,9 +17637,8 @@ MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gingiva tumor of g MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gum tumor of gum Tumor of Gum NCIT:C3057 Gingival Neoplasm tumor of gum NCIT:C3057 MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gingiva tumor of the gingiva Tumor of the Gingiva NCIT:C3057 Gingival Neoplasm tumor of the gingiva NCIT:C3057 MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gum tumor of the gum Tumor of the Gum NCIT:C3057 Gingival Neoplasm tumor of the gum NCIT:C3057 -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma papillary meningioma NCIT:C8293 +MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS neoplasm malignant PNS neoplasm Malignant PNS Neoplasm NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant PNS neoplasm NCIT:C4961 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS tumor malignant PNS tumor Malignant PNS Tumor NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant PNS tumor NCIT:C4961 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant neoplasm of PNS malignant neoplasm of PNS Malignant Neoplasm of PNS NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant neoplasm of PNS NCIT:C4961 @@ -18019,8 +17706,8 @@ MONDO:0021109 inverted urothelial papilloma oio:hasExactSynonym urinary tract i MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of sweat gland adenoma of sweat gland Adenoma of Sweat Gland NCIT:C7560 Sweat Gland Adenoma adenoma of sweat gland NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of the sweat gland adenoma of the sweat gland Adenoma of the Sweat Gland NCIT:C7560 Sweat Gland Adenoma adenoma of the sweat gland NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma, sweat gland, benign adenoma, sweat gland, benign ADENOMA, SWEAT GLAND, BENIGN NCIT:C7560 Sweat Gland Adenoma adenoma, sweat gland, benign NCIT:C7560 -MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 +MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of the ureter neoplasm of the ureter Neoplasm of the Ureter NCIT:C3427 Ureter Neoplasm neoplasm of the ureter NCIT:C3427 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of ureter neoplasm of ureter Neoplasm of Ureter NCIT:C3427 Ureter Neoplasm neoplasm of ureter NCIT:C3427 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasms of the ureter neoplasms of the ureter Neoplasms of the Ureter NCIT:C3427 Ureter Neoplasm neoplasms of the ureter NCIT:C3427 @@ -18037,7 +17724,6 @@ MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal neoplasm mal MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal tumor malignant scrotal tumor Malignant Scrotal Tumor NCIT:C3560 Malignant Scrotal Neoplasm malignant scrotal tumor NCIT:C3560 MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm malignant tumor of scrotum NCIT:C3560 MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of the scrotum malignant tumor of the scrotum Malignant Tumor of the Scrotum NCIT:C3560 Malignant Scrotal Neoplasm malignant tumor of the scrotum NCIT:C3560 -MONDO:0021112 scrotum cancer oio:hasExactSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma cancer of scrotum NCIT:C6389 MONDO:0021113 respiratory failure oio:hasExactSynonym respiratory failure respiratory failure Respiratory Failure NCIT:C26872 Respiratory Failure respiratory failure NCIT:C26872 MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin gland neoplasm Bartholin gland neoplasm Bartholin Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm Bartholin gland neoplasm NCIT:C6434 MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin's gland neoplasm Bartholin's gland neoplasm Bartholin's Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm Bartholin's gland neoplasm NCIT:C6434 @@ -18102,8 +17788,8 @@ MONDO:0021156 hypophysitis oio:hasExactSynonym hypophysis cerebri hypophysis ce MONDO:0021156 hypophysitis oio:hasExactSynonym nervous system, pituitary nervous system, pituitary Nervous System, Pituitary NCIT:C12399 Pituitary Gland nervous system, pituitary NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary NCIT:C12399 Pituitary Gland pituitary NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary pituitary Pituitary NCIT:C12399 Pituitary Gland pituitary NCIT:C12399 -MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary Gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 +MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm kidney neoplasm NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney tumor kidney tumor Kidney Tumor NCIT:C3150 Kidney Neoplasm kidney tumor NCIT:C3150 @@ -18114,8 +17800,6 @@ MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumor renal tumor Renal MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumors renal tumors Renal Tumors NCIT:C3150 Kidney Neoplasm renal tumors NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of kidney tumor of kidney Tumor of Kidney NCIT:C3150 Kidney Neoplasm tumor of kidney NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of the kidney tumor of the kidney Tumor of the Kidney NCIT:C3150 Kidney Neoplasm tumor of the kidney NCIT:C3150 -MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm kidney neoplasm NCIT:C6563 -MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease Paget's disease NCIT:C3292 MONDO:0021165 Paget disease oio:hasExactSynonym Paget disease Paget disease Paget Disease NCIT:C7073 Paget Disease Paget disease NCIT:C7073 MONDO:0021165 Paget disease oio:hasExactSynonym Paget's cell neoplasm Paget's cell neoplasm Paget's Cell Neoplasm NCIT:C7073 Paget Disease Paget's cell neoplasm NCIT:C7073 MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease Paget's disease NCIT:C7073 @@ -18271,7 +17955,6 @@ MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brain stem tumor MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brainstem tumor of brainstem Tumor of Brainstem NCIT:C4869 Brain Stem Neoplasm tumor of brainstem NCIT:C4869 MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brain stem tumor of the brain stem Tumor of the Brain Stem NCIT:C4869 Brain Stem Neoplasm tumor of the brain stem NCIT:C4869 MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm tumor of the brainstem NCIT:C4869 -MONDO:0021228 brainstem neoplasm oio:hasExactSynonym Brain stem neoplasm Brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm Brain stem neoplasm NCIT:C5969 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym ciliary body tumor ciliary body tumor Ciliary Body Tumor NCIT:C4364 Ciliary Body Neoplasm ciliary body tumor NCIT:C4364 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of ciliary body neoplasm of ciliary body Neoplasm of Ciliary Body NCIT:C4364 Ciliary Body Neoplasm neoplasm of ciliary body NCIT:C4364 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of the ciliary body neoplasm of the ciliary body Neoplasm of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm neoplasm of the ciliary body NCIT:C4364 @@ -18333,7 +18016,6 @@ MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym neoplasm of the spinal c MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C3381 Spinal Cord Neoplasm spinal cord tumor NCIT:C3381 MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of spinal cord tumor of spinal cord Tumor of Spinal Cord NCIT:C3381 Spinal Cord Neoplasm tumor of spinal cord NCIT:C3381 MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm tumor of the spinal cord NCIT:C3381 -MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C9234 Childhood Spinal Cord Neoplasm spinal cord tumor NCIT:C9234 MONDO:0021235 external ear neoplasm oio:hasExactSynonym external Ear tumor external Ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm external Ear tumor NCIT:C4652 MONDO:0021235 external ear neoplasm oio:hasExactSynonym external ear tumor external ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm external ear tumor NCIT:C4652 MONDO:0021235 external ear neoplasm oio:hasExactSynonym neoplasm of external Ear neoplasm of external Ear Neoplasm of External Ear NCIT:C4652 External Ear Neoplasm neoplasm of external Ear NCIT:C4652 @@ -18526,8 +18208,8 @@ MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epigl MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic carcinoma aJCC v8 stage 0 epiglottic carcinoma aJCC v8 Stage 0 Epiglottic Carcinoma AJCC v8 NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 stage 0 epiglottic carcinoma aJCC v8 NCIT:C4592 MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic throat cancer stage 0 epiglottic throat cancer Stage 0 Epiglottic Throat Cancer NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 stage 0 epiglottic throat cancer NCIT:C4592 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of hypopharynx carcinoma in situ of hypopharynx Carcinoma in situ of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of hypopharynx NCIT:C9101 -MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma in situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 +MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharyngeal carcinoma in situ hypopharyngeal carcinoma in situ Hypopharyngeal Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 hypopharyngeal carcinoma in situ NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharynx carcinoma in situ hypopharynx carcinoma in situ Hypopharynx Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 hypopharynx carcinoma in situ NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym stage 0 carcinoma of hypopharynx stage 0 carcinoma of hypopharynx Stage 0 Carcinoma of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 stage 0 carcinoma of hypopharynx NCIT:C9101 @@ -18653,9 +18335,6 @@ MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of the neck malignant neoplasm of the neck Malignant Neoplasm of the Neck NCIT:C4940 Malignant Neck Neoplasm malignant neoplasm of the neck NCIT:C4940 MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant tumor of the neck malignant tumor of the neck Malignant Tumor of the Neck NCIT:C4940 Malignant Neck Neoplasm malignant tumor of the neck NCIT:C4940 MONDO:0021310 malignant tumor of neck oio:hasExactSynonym neck cancer neck cancer Neck Cancer NCIT:C4940 Malignant Neck Neoplasm neck cancer NCIT:C4940 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma cancer of parathyroid gland NCIT:C4906 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma parathyroid cancer NCIT:C4906 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma parathyroid gland cancer NCIT:C4906 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid malignant neoplasm of parathyroid Malignant Neoplasm of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of parathyroid gland NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of the parathyroid NCIT:C9322 @@ -18667,7 +18346,6 @@ MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignan MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of parathyroid malignant tumor of parathyroid Malignant Tumor of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid malignant tumor of the parathyroid Malignant Tumor of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of the parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid gland malignant tumor of the parathyroid gland Malignant Tumor of the Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of the parathyroid gland NCIT:C9322 -MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex cancer NCIT:C9325 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex neoplasm malignant adrenal cortex neoplasm Malignant Adrenal Cortex Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenal cortex neoplasm NCIT:C9327 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex tumor malignant adrenal cortex tumor Malignant Adrenal Cortex Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenal cortex tumor NCIT:C9327 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenocortical neoplasm malignant adrenocortical neoplasm Malignant Adrenocortical Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenocortical neoplasm NCIT:C9327 @@ -18680,8 +18358,6 @@ MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant eyelid tumor malignan MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of eyelid malignant neoplasm of eyelid Malignant Neoplasm of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant neoplasm of eyelid NCIT:C6786 MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of the eyelid malignant neoplasm of the eyelid Malignant Neoplasm of the Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant neoplasm of the eyelid NCIT:C6786 MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant tumor of eyelid malignant tumor of eyelid Malignant Tumor of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant tumor of eyelid NCIT:C6786 -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym cancer of nasopharynx cancer of nasopharynx Cancer of Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma cancer of nasopharynx NCIT:C3871 -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym nasopharynx cancer nasopharynx cancer Nasopharynx Cancer NCIT:C3871 Nasopharyngeal Carcinoma nasopharynx cancer NCIT:C3871 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal neoplasm malignant nasopharyngeal neoplasm Malignant Nasopharyngeal Neoplasm NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant nasopharyngeal neoplasm NCIT:C9321 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant nasopharyngeal tumor NCIT:C9321 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant neoplasm of nasopharynx NCIT:C9321 @@ -18711,7 +18387,6 @@ MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant f MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant neoplasm of floor of mouth NCIT:C9318 MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of the floor of the mouth malignant neoplasm of the floor of the mouth Malignant Neoplasm of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant neoplasm of the floor of the mouth NCIT:C9318 MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant tumor of the floor of the mouth NCIT:C9318 -MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma mouth floor cancer NCIT:C9319 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct neoplasm malignant extrahepatic bile duct neoplasm Malignant Extrahepatic Bile Duct Neoplasm NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant extrahepatic bile duct neoplasm NCIT:C7483 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct tumor malignant extrahepatic bile duct tumor Malignant Extrahepatic Bile Duct Tumor NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant extrahepatic bile duct tumor NCIT:C7483 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant neoplasm of extrahepatic bile duct malignant neoplasm of extrahepatic bile duct Malignant Neoplasm of Extrahepatic Bile Duct NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant neoplasm of extrahepatic bile duct NCIT:C7483 @@ -18954,10 +18629,10 @@ MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym tumor of the chest wal MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body neoplasm aortic body neoplasm Aortic Body Neoplasm NCIT:C4218 Aorticopulmonary Paraganglioma aortic body neoplasm NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic Body Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aortic body paraganglioma NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic body paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aortic body paraganglioma NCIT:C4218 -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic body tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of aortic body neoplasm of aortic body Neoplasm of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma neoplasm of aortic body NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of the aortic body neoplasm of the aortic body Neoplasm of the Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma neoplasm of the aortic body NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym paraganglioma of aortic body paraganglioma of aortic body Paraganglioma of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma paraganglioma of aortic body NCIT:C4218 @@ -19737,7 +19412,6 @@ MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament ne MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament tumor uterine ligament tumor Uterine Ligament Tumor NCIT:C40133 Uterine Ligament Neoplasm uterine ligament tumor NCIT:C40133 MONDO:0021631 brain astrocytoma oio:hasExactSynonym brain astrocytoma brain astrocytoma Brain Astrocytoma NCIT:C60780 Brain Astrocytoma brain astrocytoma NCIT:C60780 MONDO:0021632 primary brain neoplasm oio:hasExactSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm primary brain neoplasm NCIT:C170814 -MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma cerebral astrocytoma NCIT:C4347 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebral hemispheres astrocytoma of cerebral hemispheres Astrocytoma of Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma astrocytoma of cerebral hemispheres NCIT:C4951 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma astrocytoma of cerebrum NCIT:C4951 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of the cerebral hemispheres astrocytoma of the cerebral hemispheres Astrocytoma of the Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma astrocytoma of the cerebral hemispheres NCIT:C4951 @@ -19751,8 +19425,6 @@ MONDO:0021634 epithelial skin neoplasm oio:hasExactSynonym skin epithelium tumo MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic neoplasm astrocytic neoplasm Astrocytic Neoplasm NCIT:C6958 Astrocytic Tumor astrocytic neoplasm NCIT:C6958 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor astrocytic tumor NCIT:C6958 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astroglioma astroglioma Astroglioma NCIT:C6958 Astrocytic Tumor astroglioma NCIT:C6958 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor astrocytic tumor NCIT:C7049 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor astrocytic tumor NCIT:C9022 MONDO:0021637 low grade glioma oio:hasExactSynonym low grade glioma low grade glioma Low Grade Glioma NCIT:C132067 Low Grade Glioma low grade glioma NCIT:C132067 MONDO:0021637 low grade glioma oio:hasExactSynonym low-grade glioma low-grade glioma Low-Grade Glioma NCIT:C132067 Low Grade Glioma low-grade glioma NCIT:C132067 MONDO:0021638 low grade astrocytic tumor oio:hasExactSynonym low grade astrocytic neoplasm low grade astrocytic neoplasm Low Grade Astrocytic Neoplasm NCIT:C116342 Low Grade Astrocytoma low grade astrocytic neoplasm NCIT:C116342 @@ -19781,8 +19453,8 @@ MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex co MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex cord-stromal tumor ovarian Sex cord-stromal tumor Ovarian Sex Cord-Stromal Tumor NCIT:C4862 Ovarian Sex Cord-Stromal Tumor ovarian Sex cord-stromal tumor NCIT:C4862 MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym sex cord-stromal tumor of ovary sex cord-stromal tumor of ovary Sex Cord-Stromal Tumor of Ovary NCIT:C4862 Ovarian Sex Cord-Stromal Tumor sex cord-stromal tumor of ovary NCIT:C4862 MONDO:0021658 vascular ectasia oio:hasExactSynonym vascular ectasia vascular ectasia Vascular Ectasia NCIT:C45481 Vascular Ectasia vascular ectasia NCIT:C45481 -MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined carcinoid and adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 +MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid neoplasm and adenocarcinoma combined carcinoid neoplasm and adenocarcinoma Combined Carcinoid Neoplasm and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid neoplasm and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid tumor and adenocarcinoma combined carcinoid tumor and adenocarcinoma Combined Carcinoid Tumor and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid tumor and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym composite carcinoid neoplasm composite carcinoid neoplasm Composite Carcinoid Neoplasm NCIT:C4139 Combined Carcinoid and Adenocarcinoma composite carcinoid neoplasm NCIT:C4139 @@ -19795,8 +19467,8 @@ MONDO:0021662 bile duct neoplasm oio:hasExactSynonym intrahepatic and extrahepa MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym epidermoid spindle cell carcinoma epidermoid spindle cell carcinoma Epidermoid Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma epidermoid spindle cell carcinoma NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym sarcomatoid squamous cell carcinoma sarcomatoid squamous cell carcinoma Sarcomatoid Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma sarcomatoid squamous cell carcinoma NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 -MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous Cell Carcinoma, Sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 +MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous cell carcinoma, spindle cell NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, spindle cell NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous Cell Carcinoma, Spindle Cell NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, spindle cell NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell spindle cell carcinoma squamous cell spindle cell carcinoma Squamous Cell Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell spindle cell carcinoma NCIT:C27084 @@ -19847,8 +19519,8 @@ MONDO:0022022 bowenoid papulosis oio:hasExactSynonym Bowenoid papulosis Bowenoi MONDO:0022022 bowenoid papulosis oio:hasExactSynonym bowenoid papulosis bowenoid papulosis Bowenoid Papulosis NCIT:C8374 Bowenoid Papulosis bowenoid papulosis NCIT:C8374 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor Pindborg tumor Pindborg Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor Pindborg tumor NCIT:C54301 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor Pindborg tumor NCIT:C54301 -MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying epithelial odontogenic tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 +MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 MONDO:0022103 chronic prostatitis oio:hasExactSynonym chronic prostatitis chronic prostatitis Chronic Prostatitis NCIT:C26930 Chronic Prostatitis chronic prostatitis NCIT:C26930 MONDO:0022220 Parinaud syndrome oio:hasExactSynonym Parinaud syndrome Parinaud syndrome Parinaud Syndrome NCIT:C54102 Parinaud Syndrome Parinaud syndrome NCIT:C54102 MONDO:0022293 vascular disorder of penis oio:hasExactSynonym penile vascular disorder penile vascular disorder Penile Vascular Disorder NCIT:C35218 Penile Vascular Disorder penile vascular disorder NCIT:C35218 @@ -19878,8 +19550,8 @@ MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplast MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma Desmoplastic infantile astrocytoma NCIT:C9476 MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma Desmoplastic infantile astrocytoma Desmoplastic Infantile Astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma Desmoplastic infantile astrocytoma NCIT:C9476 MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym DIA NCIT:C9476 Desmoplastic Infantile Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIA NCIT:C9476 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 +MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym DIG NCIT:C4738 Desmoplastic Infantile Ganglioglioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIG NCIT:C4738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym diffuse idiopathic pulmonary neuroendocrine cell hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia NCIT:C7437 MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym DIPNECH NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIPNECH NCIT:C7437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -20015,8 +19687,6 @@ MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal Ear neoplasm inte MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal ear neoplasm internal ear neoplasm Internal Ear Neoplasm NCIT:C39784 Inner Ear Neoplasm internal ear neoplasm NCIT:C39784 MONDO:0024323 glomangiomyoma oio:hasExactSynonym glomangiomyoma glomangiomyoma Glomangiomyoma NCIT:C4223 Glomangiomyoma glomangiomyoma NCIT:C4223 MONDO:0024326 pleural adenomatoid tumor oio:hasExactSynonym pleural adenomatoid tumor pleural adenomatoid tumor Pleural Adenomatoid Tumor NCIT:C4499 Pleural Adenomatoid Tumor pleural adenomatoid tumor NCIT:C4499 -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease Chronic renal disease NCIT:C80078 -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C80078 Chronic Kidney Disease chronic renal failure NCIT:C80078 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym CRF - chronic renal failure CRF - chronic renal failure CRF - Chronic Renal Failure NCIT:C9438 Chronic Renal Failure CRF - chronic renal failure NCIT:C9438 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure Chronic renal disease NCIT:C9438 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C9438 Chronic Renal Failure chronic renal failure NCIT:C9438 @@ -20115,8 +19785,8 @@ MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 grade 2 GRADE 2 NCIT:C28078 Grade 2 grade 2 NCIT:C28078 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade II grade II Grade II NCIT:C28078 Grade 2 grade II NCIT:C28078 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym G2 NCIT:C28078 Grade 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION G2 NCIT:C28078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 Grade 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 +MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade III grade III Grade III NCIT:C28079 Grade 3 grade III NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym G3 NCIT:C28079 Grade 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION G3 NCIT:C28079 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym grade 4 grade 4 Grade 4 NCIT:C28082 Grade 4 grade 4 NCIT:C28082 @@ -20140,8 +19810,6 @@ MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym dige MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastroenteropancreatic neuroendocrine neoplasm gastroenteropancreatic neuroendocrine neoplasm Gastroenteropancreatic Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastroenteropancreatic neuroendocrine neoplasm NCIT:C27721 MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal neuroendocrine neoplasm gastrointestinal neuroendocrine neoplasm Gastrointestinal Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastrointestinal neuroendocrine neoplasm NCIT:C27721 MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal system neuroendocrine neoplasm gastrointestinal system neuroendocrine neoplasm Gastrointestinal System Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastrointestinal system neuroendocrine neoplasm NCIT:C27721 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor digestive system NET NCIT:C95404 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor digestive system neuroendocrine tumor NCIT:C95404 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic NET EC cell, serotonin producing pancreatic NET EC Cell, Serotonin Producing Pancreatic NET NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor EC cell, serotonin producing pancreatic NET NCIT:C4446 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic neuroendocrine tumor EC cell, serotonin producing pancreatic neuroendocrine tumor EC Cell, Serotonin Producing Pancreatic Neuroendocrine Tumor NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor EC cell, serotonin producing pancreatic neuroendocrine tumor NCIT:C4446 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym carcinoid tumor of pancreas carcinoid tumor of pancreas Carcinoid Tumor of Pancreas NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor carcinoid tumor of pancreas NCIT:C4446 @@ -20301,9 +19969,6 @@ MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym d MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse tenosynovial giant cell tumor diffuse tenosynovial giant cell tumor Diffuse Tenosynovial Giant Cell Tumor NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type diffuse tenosynovial giant cell tumor NCIT:C3401 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis pigmented villonodular synovitis Pigmented Villonodular Synovitis NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type pigmented villonodular synovitis NCIT:C3401 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor, diffuse type Tenosynovial Giant Cell Tumor, Diffuse Type NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type tenosynovial giant cell tumor, diffuse type NCIT:C3401 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym TGCT NCIT:C8591 Testicular Germ Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGCT NCIT:C8591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant MEST malignant MEST Malignant MEST NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney malignant MEST NCIT:C37265 MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant mixed epithelial stromal tumor of the kidney malignant mixed epithelial stromal tumor of the kidney Malignant Mixed Epithelial Stromal Tumor of the Kidney NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney malignant mixed epithelial stromal tumor of the kidney NCIT:C37265 MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign neoplasm of synovium benign neoplasm of synovium Benign Neoplasm of Synovium NCIT:C3829 Benign Synovial Neoplasm benign neoplasm of synovium NCIT:C3829 @@ -20345,8 +20010,8 @@ MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of clitoris carc MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of the clitoris carcinoma of the clitoris Carcinoma of the Clitoris NCIT:C9362 Clitoral Carcinoma carcinoma of the clitoris NCIT:C9362 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoral carcinoma clitoral carcinoma Clitoral Carcinoma NCIT:C9362 Clitoral Carcinoma clitoral carcinoma NCIT:C9362 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoris carcinoma clitoris carcinoma Clitoris Carcinoma NCIT:C9362 Clitoral Carcinoma clitoris carcinoma NCIT:C9362 -MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 +MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 MONDO:0024879 metastatic carcinoma oio:hasExactSynonym metastatic carcinoma metastatic carcinoma Metastatic Carcinoma NCIT:C3482 Metastatic Carcinoma metastatic carcinoma NCIT:C3482 MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic cancer metastatic cancer Metastatic Cancer NCIT:C36263 Metastatic Malignant Neoplasm metastatic cancer NCIT:C36263 MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic malignant neoplasm metastatic malignant neoplasm Metastatic Malignant Neoplasm NCIT:C36263 Metastatic Malignant Neoplasm metastatic malignant neoplasm NCIT:C36263 @@ -20373,16 +20038,15 @@ MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic n MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm pineocytic tumor NCIT:C6965 MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of pineal gland tumor of pineal gland Tumor of Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm tumor of pineal gland NCIT:C6965 MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of the pineal gland tumor of the pineal gland Tumor of the Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm tumor of the pineal gland NCIT:C6965 -MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm pineal parenchymal cell tumor NCIT:C8273 MONDO:0026777 VEXAS syndrome oio:hasExactSynonym vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome NCIT:C181924 VEXAS Syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome NCIT:C181924 MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung colloid adenocarcinoma lung colloid adenocarcinoma Lung Colloid Adenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma lung colloid adenocarcinoma NCIT:C45512 MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung mucinous cystadenocarcinoma lung mucinous cystadenocarcinoma Lung Mucinous Cystadenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma lung mucinous cystadenocarcinoma NCIT:C45512 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic Partially Differentiated Nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma cystic partially differentiated nephroblastoma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic partially differentiated nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma cystic partially differentiated nephroblastoma NCIT:C6897 -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant multilocular cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 MONDO:0030705 Trichomonas prostatitis oio:hasExactSynonym Trichomonas prostatitis Trichomonas prostatitis Trichomonas Prostatitis NCIT:C35176 Trichomonas Prostatitis Trichomonas prostatitis NCIT:C35176 MONDO:0030706 Trichomonas cystitis oio:hasExactSynonym Trichomonas cystitis Trichomonas cystitis Trichomonas Cystitis NCIT:C35405 Trichomonas Cystitis Trichomonas cystitis NCIT:C35405 MONDO:0030707 Trichomonas balanoposthitis oio:hasExactSynonym Trichomonas balanoposthitis Trichomonas balanoposthitis Trichomonas Balanoposthitis NCIT:C35406 Trichomonas Balanoposthitis Trichomonas balanoposthitis NCIT:C35406 @@ -20439,8 +20103,8 @@ MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of ep MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of the epithelium benign tumor of the epithelium Benign Tumor of the Epithelium NCIT:C4092 Benign Epithelial Neoplasm benign tumor of the epithelium NCIT:C4092 MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign Epithelioma, benign NCIT:C4092 Benign Epithelial Neoplasm epithelioma, benign NCIT:C4092 MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign EPITHELIOMA, BENIGN NCIT:C4092 Benign Epithelial Neoplasm epithelioma, benign NCIT:C4092 -MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign Leydig cell tumor, benign LEYDIG CELL TUMOR, BENIGN NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 +MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym adenoma, interstitial adenoma, interstitial Adenoma, Interstitial NCIT:C4212 Benign Leydig Cell Tumor adenoma, interstitial NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell neoplasm benign Leydig cell neoplasm Benign Leydig Cell Neoplasm NCIT:C4212 Benign Leydig Cell Tumor benign Leydig cell neoplasm NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell tumor benign Leydig cell tumor Benign Leydig Cell Tumor NCIT:C4212 Benign Leydig Cell Tumor benign Leydig cell tumor NCIT:C4212 @@ -20551,7 +20215,6 @@ MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym me MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym metastatic tumor to the colon metastatic tumor to the colon Metastatic Tumor to the Colon NCIT:C8411 Metastatic Malignant Neoplasm in the Colon metastatic tumor to the colon NCIT:C8411 MONDO:0042233 disseminated candidiasis oio:hasExactSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis disseminated candidiasis NCIT:C116812 MONDO:0042485 infective arthritis oio:hasExactSynonym infective arthritis infective arthritis Infective Arthritis NCIT:C26700 Infective Arthritis infective arthritis NCIT:C26700 -MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous intraepithelial neoplasia, grade III NCIT:C27093 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN 3 aJCC v6 CIN 3 aJCC v6 CIN 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 CIN 3 aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN grade 3 aJCC v6 CIN grade 3 aJCC v6 CIN Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 CIN grade 3 aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym FIGO stage 0 carcinoma of cervix FIGO stage 0 carcinoma of cervix FIGO Stage 0 Carcinoma of Cervix NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 FIGO stage 0 carcinoma of cervix NCIT:C4000 @@ -20599,7 +20262,6 @@ MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym stage 0 cerv MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix Severe dysplasia aJCC v6 uterine cervix Severe dysplasia aJCC v6 Uterine Cervix Severe Dysplasia AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix Severe dysplasia aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix carcinoma in situ aJCC v6 uterine cervix carcinoma in situ aJCC v6 Uterine Cervix Carcinoma in situ AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix carcinoma in situ aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix intraepithelial neoplasia grade 3 aJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 Uterine Cervix Intraepithelial Neoplasia Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 NCIT:C4000 -MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym CIN NCIT:C3782 Cervical Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIN NCIT:C3782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical sil cervical sil Cervical SIL NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical sil NCIT:C7346 MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial lesion cervical squamous intraepithelial lesion Cervical Squamous Intraepithelial Lesion NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical squamous intraepithelial lesion NCIT:C7346 MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial neoplasia cervical squamous intraepithelial neoplasia Cervical Squamous Intraepithelial Neoplasia NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical squamous intraepithelial neoplasia NCIT:C7346 @@ -20658,8 +20320,8 @@ MONDO:0043310 amaurosis fugax oio:hasExactSynonym amaurosis fugax amaurosis fug MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis muscle syndrome piriformis muscle syndrome Piriformis Muscle Syndrome NCIT:C85012 Piriformis Muscle Syndrome piriformis muscle syndrome NCIT:C85012 MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis syndrome piriformis syndrome Piriformis Syndrome NCIT:C85012 Piriformis Muscle Syndrome piriformis syndrome NCIT:C85012 MONDO:0043346 progressive transformation of germinal centers oio:hasExactSynonym progressive transformation of Germinal centers progressive transformation of Germinal centers Progressive Transformation of Germinal Centers NCIT:C38408 Progressive Transformation of Germinal Centers progressive transformation of Germinal centers NCIT:C38408 -MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 +MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson pseudotumor Masson pseudotumor Masson Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson pseudotumor NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudosarcoma Masson's pseudosarcoma Masson's Pseudosarcoma NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson's pseudosarcoma NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudotumor Masson's pseudotumor Masson's Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson's pseudotumor NCIT:C4391 @@ -20863,7 +20525,6 @@ MONDO:0044768 vagus nerve paraganglioma oio:hasExactSynonym vagus nerve paragan MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin's lymphoma nodular lymphocyte predominant Hodgkin's lymphoma Nodular Lymphocyte Predominant Hodgkin's Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin's lymphoma NCIT:C7258 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym NLPHL NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NLPHL NCIT:C7258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym nephrotic syndrome of childhood - steroid sensitive nephrotic syndrome of childhood - steroid sensitive Nephrotic Syndrome of Childhood - Steroid Sensitive NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive nephrotic syndrome of childhood - steroid sensitive NCIT:C122797 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-responsive nephrotic syndrome steroid-responsive nephrotic syndrome Steroid-Responsive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive steroid-responsive nephrotic syndrome NCIT:C122797 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-sensitive nephrotic syndrome steroid-sensitive nephrotic syndrome Steroid-Sensitive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive steroid-sensitive nephrotic syndrome NCIT:C122797 @@ -20887,8 +20548,8 @@ MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasEx MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym Mixed hepatocellular cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma Mixed Hepatocellular Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym carcinoma of the liver and intrahepatic biliary tract carcinoma of the liver and intrahepatic biliary tract Carcinoma of the Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma carcinoma of the liver and intrahepatic biliary tract NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) Combined Hepatocellular Cancer and Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C3828 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevi congenital melanocytic nevi Congenital Melanocytic Nevi NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevi NCIT:C3944 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus congenital melanocytic nevus Congenital Melanocytic Nevus NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevus NCIT:C3944 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus of skin congenital melanocytic nevus of skin Congenital Melanocytic Nevus of Skin NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevus of skin NCIT:C3944 @@ -20929,13 +20590,11 @@ MONDO:0044817 acquired idiopathic torsion dystonia oio:hasExactSynonym non-Fami MONDO:0044872 dysautonomia oio:hasExactSynonym dysautonomia dysautonomia Dysautonomia NCIT:C53439 Dysautonomia dysautonomia NCIT:C53439 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood MDS childhood MDS Childhood MDS NCIT:C68744 Childhood Myelodysplastic Syndrome childhood MDS NCIT:C68744 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood myelodysplastic syndrome childhood myelodysplastic syndrome Childhood Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome childhood myelodysplastic syndrome NCIT:C68744 -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory Cytopenia of Childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 +MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym coronary microvascular disease coronary microvascular disease Coronary Microvascular Disease NCIT:C84478 Coronary Microvascular Disease coronary microvascular disease NCIT:C84478 MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044877 paraneoplastic cerebellar degeneration oio:hasExactSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic Cerebellar Degeneration NCIT:C4685 Paraneoplastic Cerebellar Degeneration paraneoplastic cerebellar degeneration NCIT:C4685 MONDO:0044878 adult germ cell tumor oio:hasExactSynonym Adult germ cell tumor Adult germ cell tumor Adult Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor Adult germ cell tumor NCIT:C114777 MONDO:0044879 pancreatic mucinous-cystic neoplasm oio:hasExactSynonym Pancreatic mucinous cystic neoplasm Pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm Pancreatic mucinous cystic neoplasm NCIT:C41247 @@ -20999,11 +20658,9 @@ MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-Lymphoblastic lymp MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-lymphoblastic lymphoma T-lymphoblastic lymphoma T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma T-lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T Lymphoblastic lymphoma precursor T Lymphoblastic lymphoma Precursor T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-Lymphoblastic lymphoma precursor T-Lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-Lymphoblastic lymphoma NCIT:C6919 -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-cell lymphoblastic lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 +MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-lymphoblastic lymphoma NCIT:C6919 -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T Lymphoblastic lymphoma T Lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma T Lymphoblastic lymphoma NCIT:C7210 -MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma renal pelvis cancer NCIT:C6142 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant neoplasm of renal pelvis NCIT:C7525 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of the renal pelvis malignant neoplasm of the renal pelvis Malignant Neoplasm of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant neoplasm of the renal pelvis NCIT:C7525 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant renal pelvis neoplasm NCIT:C7525 @@ -21012,8 +20669,8 @@ MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tum MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tumor of the renal pelvis malignant tumor of the renal pelvis Malignant Tumor of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant tumor of the renal pelvis NCIT:C7525 MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoid hyperplasia atypical lymphoid hyperplasia Atypical Lymphoid Hyperplasia NCIT:C7764 Atypical Lymphoproliferative Disorder atypical lymphoid hyperplasia NCIT:C7764 MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoproliferative disorder atypical lymphoproliferative disorder Atypical Lymphoproliferative Disorder NCIT:C7764 Atypical Lymphoproliferative Disorder atypical lymphoproliferative disorder NCIT:C7764 -MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 +MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym NPMc+ AML NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation NPMc+ AML NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with cytoplasmic nucleophosmin acute myeloid leukemia with cytoplasmic nucleophosmin Acute Myeloid Leukemia with Cytoplasmic Nucleophosmin NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation acute myeloid leukemia with cytoplasmic nucleophosmin NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute myeloid leukemia with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation acute myeloid leukemia with mutated NPM1 NCIT:C82431 @@ -21101,8 +20758,8 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054868 meconium ileus oio:hasExactSynonym meconium ileus meconium ileus Meconium Ileus NCIT:C98979 Meconium Ileus meconium ileus NCIT:C98979 MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Del Castillo syndrome Del Castillo syndrome Del Castillo Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome Del Castillo syndrome NCIT:C168988 MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Sertoli cell-only syndrome Sertoli cell-only syndrome Sertoli Cell-Only Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome Sertoli cell-only syndrome NCIT:C168988 -MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy Obstructive Nephropathy NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 +MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of peripheral nerve benign granular cell neoplasm of peripheral nerve Benign Granular Cell Neoplasm of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell neoplasm of peripheral nerve NCIT:C5502 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of the peripheral nerve benign granular cell neoplasm of the peripheral nerve Benign Granular Cell Neoplasm of the Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell neoplasm of the peripheral nerve NCIT:C5502 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell tumor of peripheral nerve benign granular cell tumor of peripheral nerve Benign Granular Cell Tumor of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell tumor of peripheral nerve NCIT:C5502 @@ -21210,8 +20867,8 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 NCIT:C85049 Long QT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia Friedreich's Ataxia NCIT:C84718 MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's ataxia Friedreich's ataxia Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia Friedreich's ataxia NCIT:C84718 MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich ataxia Friedreich ataxia Friedreich Ataxia NCIT:C84718 Friedreich Ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Friedreich ataxia NCIT:C84718 -MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant GLIOMA, MALIGNANT NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 +MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym high grade glioma high grade glioma High Grade Glioma NCIT:C4822 Malignant Glioma high grade glioma NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym high-grade glioma high-grade glioma High-Grade Glioma NCIT:C4822 Malignant Glioma high-grade glioma NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym malignant glial neoplasm malignant glial neoplasm Malignant Glial Neoplasm NCIT:C4822 Malignant Glioma malignant glial neoplasm NCIT:C4822 @@ -21228,7 +20885,6 @@ MONDO:0100470 reactive airway disease oio:hasExactSynonym hyperactive airway di MONDO:0100470 reactive airway disease oio:hasExactSynonym reactive airway disease (AQ) reactive airway disease (AQ) Reactive Airway Disease (AQ) NCIT:C113673 Reactive Airway Disease reactive airway disease (AQ) NCIT:C113673 MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison's disease autoimmune Addison's disease Autoimmune Addison's Disease NCIT:C113814 Autoimmune Primary Adrenal Insufficiency autoimmune Addison's disease NCIT:C113814 MONDO:0100482 extensively drug-resistant tuberculosis oio:hasExactSynonym XDR-TB NCIT:C128417 Extensively Drug-Resistant Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XDR-TB NCIT:C128417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome Bonnevie-Ullrich syndrome NCIT:C26900 MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome Bonnevie-Ullrich syndrome NCIT:C34434 MONDO:0100505 food dermatitis oio:hasExactSynonym dermatitis due to food taken internally dermatitis due to food taken internally Dermatitis due to Food taken Internally NCIT:C34534 Dermatitis due to Food taken Internally dermatitis due to food taken internally NCIT:C34534 MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym familial ovarian carcinoma familial ovarian carcinoma Familial Ovarian Carcinoma NCIT:C36102 Hereditary Ovarian Carcinoma familial ovarian carcinoma NCIT:C36102 diff --git a/src/ontology/reports/sync-synonym/ncit.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/ncit.synonyms.updated.robot.tsv index 6ae6af76..0fcd6a46 100644 --- a/src/ontology/reports/sync-synonym/ncit.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/ncit.synonyms.updated.robot.tsv @@ -3,16 +3,6 @@ ID A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >AI oboInOwl:has MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym oio:hasRelatedSynonym NLS NCIT:C14089 Nuclear Localization Signal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000102 NLS NCIT:C14089 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant interstitial cell tumor malignant interstitial cell tumor Malignant Interstitial Cell Tumor NCIT:C4213 Malignant Leydig Cell Tumor DOID:0050616 malignant interstitial cell tumor NCIT:C4213 MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym paranasal sinus cancer paranasal sinus cancer Paranasal Sinus Cancer NCIT:C6014 Paranasal Sinus Carcinoma MONDO:patterns/location, NCIT:C6014 paranasal sinus cancer NCIT:C6014 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mucoepidermoid carcinoma of accessory sinus mucoepidermoid carcinoma of accessory sinus Mucoepidermoid Carcinoma of Accessory Sinus NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 mucoepidermoid carcinoma of accessory sinus NCIT:C6018 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus mucoepidermoid carcinoma paranasal sinus mucoepidermoid carcinoma Paranasal Sinus Mucoepidermoid Carcinoma NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 paranasal sinus mucoepidermoid carcinoma NCIT:C6018 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 adenoid cystic carcinoma of accessory sinus NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of paranasal sinus adenoid cystic carcinoma of paranasal sinus Adenoid Cystic Carcinoma of Paranasal Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 adenoid cystic carcinoma of paranasal sinus NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma Paranasal Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 paranasal sinus adenoid cystic carcinoma NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of paranasal sinus malignant neoplasm of paranasal sinus Malignant Neoplasm of Paranasal Sinus NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer malignant neoplasm of paranasal sinus NCIT:C7487 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant paranasal sinus neoplasm malignant paranasal sinus neoplasm Malignant Paranasal Sinus Neoplasm NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer malignant paranasal sinus neoplasm NCIT:C7487 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym epidermoid carcinoma of the paranasal sinus epidermoid carcinoma of the paranasal sinus Epidermoid Carcinoma of the Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 epidermoid carcinoma of the paranasal sinus NCIT:C8193 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma Paranasal Sinus Squamous Cell Carcinoma NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 paranasal sinus squamous cell carcinoma NCIT:C8193 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus Squamous Cell Carcinoma of Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 squamous cell carcinoma of paranasal sinus NCIT:C8193 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system NET NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system neuroendocrine tumor NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system well differentiated neuroendocrine tumor digestive system well differentiated neuroendocrine tumor Digestive System Well Differentiated Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system well differentiated neuroendocrine tumor NCIT:C95404 @@ -21,150 +11,57 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal NET gastrointestinal NET Gastrointestinal NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal NET NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal neuroendocrine tumor gastrointestinal neuroendocrine tumor Gastrointestinal Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal neuroendocrine tumor NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal system neuroendocrine tumor gastrointestinal system neuroendocrine tumor Gastrointestinal System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal system neuroendocrine tumor NCIT:C95404 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome fetal alcohol syndrome Fetal Alcohol Syndrome NCIT:C84713 Fetal Alcohol Syndrome MESH:D063647 fetal alcohol syndrome NCIT:C84713 MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar Ataxia NCIT:C82341 Spinocerebellar Ataxia spinocerebellar ataxia NCIT:C82341 -MONDO:0000448 paraganglioma oio:hasExactSynonym oio:hasNarrowSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma DOID:0050773 chemodectoma NCIT:C2932 MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis spasmodic torticollis Spasmodic Torticollis NCIT:C85072 Spasmodic Torticollis DOID:0050840 spasmodic torticollis NCIT:C85072 MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ NCIT:C136486 bronchioloalveolar carcinoma NCIT:C136486 -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma NCIT:C136486 bronchioloalveolar carcinoma NCIT:C2923 -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm NCIT:C9272 salivary gland cancer NCIT:C3811 MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma NCIT:C9272 salivary gland cancer NCIT:C9272 -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction NCIT:C3114 allergic reaction NCIT:C114476 MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitive sensitive Sensitive NCIT:C3114 Hypersensitivity NCIT:C3114 sensitive NCIT:C3114 MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitivity sensitivity Sensitivity NCIT:C3114 Hypersensitivity NCIT:C3114 sensitivity NCIT:C3114 -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm of soft tissue neoplasm of soft tissue Neoplasm of Soft Tissue NCIT:C3377 Soft Tissue Neoplasm DOID:0060123 neoplasm of soft tissue NCIT:C3377 -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of the soft tissue tumor of the soft tissue Tumor of the Soft Tissue NCIT:C3377 Soft Tissue Neoplasm NCIT:C3377, DOID:0060123 tumor of the soft tissue NCIT:C3377 MONDO:0000675 pain agnosia oio:hasExactSynonym oio:hasRelatedSynonym analgesia analgesia Analgesia NCIT:C125664 Pain Agnosia DOID:0060145 analgesia NCIT:C125664 MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym disorder of organic acid metabolism disorder of organic acid metabolism Disorder of Organic Acid Metabolism NCIT:C101334 Organic Acid Metabolism Disorder NCIT:C101334 disorder of organic acid metabolism NCIT:C101334 MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym organic acid metabolism disorder organic acid metabolism disorder Organic Acid Metabolism Disorder NCIT:C101334 Organic Acid Metabolism Disorder DOID:0060159 organic acid metabolism disorder NCIT:C101334 MONDO:0000741 angular cheilitis oio:hasExactSynonym oio:hasRelatedSynonym cheilosis cheilosis Cheilosis NCIT:C112198 Angular Cheilitis NCIT:C112198, DOID:0060312 cheilosis NCIT:C112198 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C8644 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C9140 MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C9143 MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X metabolic syndrome X Metabolic Syndrome X NCIT:C84442 Metabolic Syndrome NCIT:C84442 metabolic syndrome X NCIT:C84442 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3168 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C3183 MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C7953 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C9142 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C8644 MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C9140 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C9143 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C4861 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C4861 MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C8263 -MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis DOID:0080178 mucositis NCIT:C115965 MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis DOID:0080178 mucositis NCIT:C3853 MONDO:0000922 pelvic inflammatory disease oio:hasExactSynonym oio:hasRelatedSynonym pelvic infection pelvic infection Pelvic Infection NCIT:C3889 Pelvic Inflammatory Disease NCIT:C3889 pelvic infection NCIT:C3889 -MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym normokalemic periodic paralysis normokalemic periodic paralysis Normokalemic Periodic Paralysis NCIT:C122791 Normokalemic Periodic Paralysis MESH:D010245 normokalemic periodic paralysis NCIT:C122791 -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML NCIT:C3174 Chronic Myeloid Leukemia, BCR-ABL1 Positive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CML NCIT:C3174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye lazy eye Lazy Eye NCIT:C118764 Amblyopia NCIT:C118764 lazy eye NCIT:C118764 -MONDO:0001056 gastric cancer oio:hasExactSynonym oio:hasBroadSynonym gastric neoplasm gastric neoplasm Gastric Neoplasm NCIT:C3387 Gastric Neoplasm DOID:10534, NCIT:C3387 gastric neoplasm NCIT:C3387 -MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph node neoplasm lymph node neoplasm Lymph Node Neoplasm NCIT:C35497 Lymph Node Neoplasm NCIT:C35497, DOID:10619 lymph node neoplasm NCIT:C35497 -MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome adult Fanconi syndrome Adult Fanconi Syndrome NCIT:C4377 Adult Fanconi Syndrome DOID:1062 adult Fanconi syndrome NCIT:C4377 MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym mediastinal neuroblastoma mediastinal neuroblastoma Mediastinal Neuroblastoma NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 mediastinal neuroblastoma NCIT:C6628 MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym neuroblastoma of the mediastinum neuroblastoma of the mediastinum Neuroblastoma of the Mediastinum NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 neuroblastoma of the mediastinum NCIT:C6628 MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele spinal meningocele NCIT:C101209 -MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101214 Spina Bifida spinal meningocele NCIT:C101214 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the bladder tumor of the bladder Tumor of the Bladder NCIT:C2901 Bladder Neoplasm DOID:11054, NCIT:C2901 tumor of the bladder NCIT:C2901 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation arteriovenous malformation Arteriovenous Malformation NCIT:C2882 Arteriovenous Malformation/Hemangioma DOID:11294 arteriovenous malformation NCIT:C2882 MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's Itch NCIT:C128349 Cercarial Dermatitis GARD:0009747 swimmer's itch NCIT:C128349 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis NCIT:C35111 Posterior Uveitis NORD:1601 Posterior Uveitis NCIT:C35111 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior Uveitis NCIT:C35111 Posterior Uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis NCIT:C35111 MONDO:0001302 hypertensive heart disease oio:hasExactSynonym oio:hasRelatedSynonym hypertensive cardiomegaly hypertensive cardiomegaly Hypertensive Cardiomegaly NCIT:C4907 Hypertensive Cardiomegaly hypertensive cardiomegaly NCIT:C4907 -MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial Tumor NCIT:C4651 Pericardial Neoplasm NCIT:C4651, DOID:116 pericardial tumor NCIT:C4651 -MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm penile neoplasm Penile Neoplasm NCIT:C3317 Penile Neoplasm DOID:11615 penile neoplasm NCIT:C3317 -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym Cardiac tumor Cardiac tumor Cardiac Tumor NCIT:C3081 Heart Neoplasm DOID:117, NCIT:C3081 Cardiac tumor NCIT:C3081 -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of heart tumor of heart Tumor of Heart NCIT:C3081 Heart Neoplasm DOID:117 tumor of heart NCIT:C3081 -MONDO:0001398 ureter benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym ureteral tumor ureteral tumor Ureteral Tumor NCIT:C3427 Ureter Neoplasm DOID:11885, NCIT:C3427 ureteral tumor NCIT:C3427 -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vagina neoplasm vagina neoplasm Vagina Neoplasm NCIT:C3437 Vaginal Neoplasm DOID:119 vagina neoplasm NCIT:C3437 -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm NCIT:C3437, DOID:119 vaginal tumor NCIT:C3437 -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm nerve sheath neoplasm Nerve Sheath Neoplasm NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 nerve sheath neoplasm NCIT:C4972 -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath tumors nerve sheath tumors Nerve Sheath Tumors NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 nerve sheath tumors NCIT:C4972 -MONDO:0001407 tracheal cancer oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:11920 tracheal neoplasm NCIT:C3419 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis American trypanosomiasis American Trypanosomiasis NCIT:C84629 Chagas Disease DOID:12140 American trypanosomiasis NCIT:C84629 MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale Cor pulmonale Cor Pulmonale NCIT:C34478 Cor Pulmonale NCIT:C34478 Cor pulmonale NCIT:C34478 MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer retroperitoneal cancer Retroperitoneal Cancer NCIT:C7352 Retroperitoneal Carcinoma NCIT:C7352 retroperitoneal cancer NCIT:C7352 -MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva neoplasm of vulva Neoplasm of Vulva NCIT:C3443 Vulvar Neoplasm DOID:1245 neoplasm of vulva NCIT:C3443 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Hurler syndrome Hurler Syndrome NCIT:C61261 Hurler Syndrome DOID:12802 Hurler syndrome NCIT:C61261 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym MPS I NCIT:C85053 Mucopolysaccharidosis Type I GARD:0010335 MPS I NCIT:C85053 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I mucopolysaccharidosis I Mucopolysaccharidosis I NCIT:C85053 Mucopolysaccharidosis Type I DOID:12802 mucopolysaccharidosis I NCIT:C85053 MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign lymphoepithelial lesion of the salivary gland benign lymphoepithelial lesion of the salivary gland Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 benign lymphoepithelial lesion of the salivary gland NCIT:C3949 MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign salivary gland lymphoepithelial lesion benign salivary gland lymphoepithelial lesion Benign Salivary Gland Lymphoepithelial Lesion NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 benign salivary gland lymphoepithelial lesion NCIT:C3949 MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora Cancer NCIT:C9364 Labia Minora Carcinoma NCIT:C9364, DOID:1293 labia minora cancer NCIT:C9364 MONDO:0001651 scrotum squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of scrotum squamous cell carcinoma of scrotum Squamous Cell Carcinoma of Scrotum NCIT:C4643 Scrotal Squamous Cell Carcinoma DOID:13159 squamous cell carcinoma of scrotum NCIT:C4643 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasRelatedSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm DOID:1319, NCIT:C4952 primary brain neoplasm NCIT:C170814 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym brain neoplasm brain neoplasm Brain Neoplasm NCIT:C2907 Brain Neoplasm DOID:1319 brain neoplasm NCIT:C2907 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brain tumor of the brain Tumor of the Brain NCIT:C2907 Brain Neoplasm DOID:1319, NCIT:C2907 tumor of the brain NCIT:C2907 MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym exocrine pancreas insufficiency exocrine pancreas insufficiency Exocrine Pancreas Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 exocrine pancreas insufficiency NCIT:C84316 MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency pancreatic insufficiency Pancreatic Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 pancreatic insufficiency NCIT:C84316 MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease choroid disease Choroid Disease NCIT:C34468 Choroid Disorder DOID:1417 choroid disease NCIT:C34468 -MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency NCIT:C27142 Selective IgG Immunodeficiency NCIT:C27142, DOID:14176 selective IgG immunodeficiency NCIT:C27142 MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym blindness blindness Blindness NCIT:C97109 Blindness DOID:1432 blindness NCIT:C97109 MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection inner ear infection Inner Ear Infection NCIT:C128369 Labyrinthitis DOID:3930 inner ear infection NCIT:C128369 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCIT:C148366 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria, mut type methylmalonic aciduria, mut type Methylmalonic Aciduria, Mut Type NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 methylmalonic aciduria, mut type NCIT:C148366 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental disorder mental disorder Mental Disorder NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental disorder NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental dysfunction mental dysfunction Mental Dysfunction NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental dysfunction NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental illness mental illness Mental Illness NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental illness NCIT:C2893 -MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis DOID:1508, ICD9CM:112.5 disseminated candidiasis NCIT:C116812 MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma NCIT:C4910 colon cancer NCIT:C4910 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer head and neck cancer Head and Neck Cancer NCIT:C4013 Malignant Head and Neck Neoplasm NCIT:C35850 head and neck cancer NCIT:C4013 MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym fungal infection fungal infection Fungal Infection NCIT:C3245 Fungal Infection NCIT:C3245 fungal infection NCIT:C3245 -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia melancholia Melancholia NCIT:C34812 Melancholic Depression MESH:D003866 melancholia NCIT:C34812 -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma pineal region germinoma Pineal Region Germinoma NCIT:C8712 Pineal Region Germinoma GARD:0012017 pineal region germinoma NCIT:C8712 MONDO:0002081 musculoskeletal system disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal disorder musculoskeletal disorder Musculoskeletal Disorder NCIT:C107377 Musculoskeletal Disorder musculoskeletal disorder NCIT:C107377 -MONDO:0002082 endocrine gland neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant endocrine tumor malignant endocrine tumor Malignant Endocrine Tumor NCIT:C3575 Malignant Endocrine Neoplasm DOID:170 malignant endocrine tumor NCIT:C3575 -MONDO:0002087 peritoneum cancer oio:hasExactSynonym oio:hasRelatedSynonym peritoneal neoplasm peritoneal neoplasm Peritoneal Neoplasm NCIT:C3322 Peritoneal Neoplasm DOID:1725 peritoneal neoplasm NCIT:C3322 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm blood vessel neoplasm Blood Vessel Neoplasm NCIT:C7387 Blood Vessel Neoplasm NCIT:C7387, DOID:175 blood vessel neoplasm NCIT:C7387 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood Vessel Tumor NCIT:C7387 Blood Vessel Neoplasm DOID:175 blood vessel tumor NCIT:C7387 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular tissue neoplasm vascular tissue neoplasm Vascular Tissue Neoplasm NCIT:C7388 Vascular Neoplasm DOID:175 vascular tissue neoplasm NCIT:C7388 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors vascular tumors Vascular Tumors NCIT:C7388 Vascular Neoplasm DOID:175, NCIT:C7388 vascular tumors NCIT:C7388 -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm cardiovascular neoplasm Cardiovascular Neoplasm NCIT:C4784 Cardiovascular Neoplasm DOID:176 cardiovascular neoplasm NCIT:C4784 -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland neoplasm of thyroid gland Neoplasm of Thyroid Gland NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 neoplasm of thyroid gland NCIT:C3414 -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym thyroid gland neoplasm thyroid gland neoplasm Thyroid Gland Neoplasm NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 thyroid gland neoplasm NCIT:C3414 -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary gland neoplasm pituitary gland neoplasm Pituitary Gland Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785, NCIT:C3330 pituitary gland neoplasm NCIT:C3330 -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary neoplasm pituitary neoplasm Pituitary Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785 pituitary neoplasm NCIT:C3330 -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreatic exocrine tumor pancreatic exocrine tumor Pancreatic Exocrine Tumor NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 pancreatic exocrine tumor NCIT:C4445 -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of exocrine pancreas tumor of exocrine pancreas Tumor of Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 tumor of exocrine pancreas NCIT:C4445 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C9343, DOID:184 osseous tumor NCIT:C6603 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm DOID:184 bone neoplasm NCIT:C9343 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm DOID:184 bone tumor NCIT:C9343 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C9343, DOID:184 osseous tumor NCIT:C9343 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C27241 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C3011 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C3011 MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym CARD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C103186 CARD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive Tumor NCIT:C3674 Reproductive System Neoplasm NCIT:C3674, DOID:193 reproductive tumor NCIT:C3674 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute Cholecystitis NCIT:C35152 Acute Cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis NCIT:C35152 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis acalculous cholecystitis Acalculous Cholecystitis NCIT:C35578 Acalculous Cholecystitis GARD:0000030 acalculous cholecystitis NCIT:C35578 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube tumor of the fallopian tube Tumor of the Fallopian Tube NCIT:C3032 Fallopian Tube Neoplasm NCIT:C3032, DOID:1964 tumor of the fallopian tube NCIT:C3032 -MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental Tumors NCIT:C4858 Placental Neoplasm DOID:2021, NCIT:C4858 placental tumors NCIT:C4858 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym eye neoplasm eye neoplasm Eye Neoplasm NCIT:C3030 Eye Neoplasm DOID:2174 eye neoplasm NCIT:C3030 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of eye neoplasm of eye Neoplasm of Eye NCIT:C3030 Eye Neoplasm DOID:2174 neoplasm of eye NCIT:C3030 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym ocular tumor ocular tumor Ocular Tumor NCIT:C3030 Eye Neoplasm NCIT:C3030, DOID:2174 ocular tumor NCIT:C3030 MONDO:0002249 thrombocytosis disease oio:hasExactSynonym oio:hasRelatedSynonym thrombocytosis thrombocytosis Thrombocytosis NCIT:C35530 Thrombocytosis DOID:2228 thrombocytosis NCIT:C35530 -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasBroadSynonym pharyngeal disorder pharyngeal disorder Pharyngeal Disorder NCIT:C26850 Pharyngeal Disorder DOID:2275 pharyngeal disorder NCIT:C26850 -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis ICD9CM:462, DOID:2275 acute pharyngitis NCIT:C34355 -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colon neoplasm colon neoplasm Colon Neoplasm NCIT:C2953 Colon Neoplasm DOID:235 colon neoplasm NCIT:C2953 -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colonic tumor colonic tumor Colonic Tumor NCIT:C2953 Colon Neoplasm DOID:235, NCIT:C2953 colonic tumor NCIT:C2953 MONDO:0002287 glandular cystitis oio:hasExactSynonym oio:hasRelatedSynonym cystitis glandularis cystitis glandularis Cystitis Glandularis NCIT:C39860 Cystitis Glandularis DOID:2392 cystitis glandularis NCIT:C39860 -MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of clitoris carcinoma of clitoris Carcinoma of Clitoris NCIT:C9362 Clitoral Carcinoma DOID:2401, NCIT:C9362 carcinoma of clitoris NCIT:C9362 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease DOID:2477 hereditary motor and sensory neuropathy NCIT:C75467 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym trachea neoplasm trachea neoplasm Trachea Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 trachea neoplasm NCIT:C3419 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 tracheal neoplasm NCIT:C3419 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal tumor tracheal tumor Tracheal Tumor NCIT:C3419 Tracheal Neoplasm DOID:248, NCIT:C3419 tracheal tumor NCIT:C3419 -MONDO:0002328 intracranial hemangioma oio:hasExactSynonym oio:hasBroadSynonym brain hemangioma brain hemangioma Brain Hemangioma NCIT:C7739 Brain Hemangioma MONDO:patterns/location brain hemangioma NCIT:C7739 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hematologic cancer hematologic cancer Hematologic Cancer NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematologic cancer NCIT:C27134 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematologic neoplasm hematologic neoplasm Hematologic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematologic neoplasm NCIT:C27134 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematopoietic neoplasm hematopoietic neoplasm Hematopoietic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematopoietic neoplasm NCIT:C27134 -MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm larynx neoplasm Larynx Neoplasm NCIT:C3156 Laryngeal Neoplasm DOID:2598 larynx neoplasm NCIT:C3156 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 cancer of glottis NCIT:C4923 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the glottis cancer of the glottis Cancer of the Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 cancer of the glottis NCIT:C4923 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottic throat cancer glottic throat cancer Glottic Throat Cancer NCIT:C4923 Glottis Carcinoma NCIT:C4923 glottic throat cancer NCIT:C4923 @@ -173,154 +70,69 @@ MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the larynx cancer of the larynx Cancer of the Larynx NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 cancer of the larynx NCIT:C4855 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal cancer laryngeal cancer Laryngeal Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 laryngeal cancer NCIT:C4855 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal throat cancer laryngeal throat cancer Laryngeal Throat Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 laryngeal throat cancer NCIT:C4855 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary Serous Carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma NCIT:C6882 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma NCIT:C6882 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary Serous Carcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma DOID:2632, NCIT:C8377 papillary serous carcinoma NCIT:C8377 -MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym oio:hasBroadSynonym Brenner tumor Brenner tumor Brenner Tumor NCIT:C39954 Brenner Tumor NCIT:C3872 Brenner tumor NCIT:C39954 -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign synovioma benign synovioma Benign Synovioma NCIT:C3829 Benign Synovial Neoplasm DOID:2701 benign synovioma NCIT:C3829 -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of synovium benign tumor of synovium Benign Tumor of Synovium NCIT:C3829 Benign Synovial Neoplasm DOID:2701, NCIT:C3829 benign tumor of synovium NCIT:C3829 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the liver angioma of the liver Angioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 angioma of the liver NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the liver hemangioma of the liver Hemangioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 hemangioma of the liver NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hepatic hemangioma hepatic hemangioma Hepatic Hemangioma NCIT:C3869 Liver Hemangioma NCIT:C3869 hepatic hemangioma NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym liver angioma liver angioma Liver Angioma NCIT:C3869 Liver Hemangioma NCIT:C3869 liver angioma NCIT:C3869 MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ethmoid sinus adenocarcinoma of ethmoid sinus Adenocarcinoma of Ethmoid Sinus NCIT:C6237 Ethmoid Sinus Adenocarcinoma DOID:2766 adenocarcinoma of ethmoid sinus NCIT:C6237 -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF NCIT:C35716 Idiopathic Pulmonary Fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 IPF NCIT:C35716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor cranial nerve III tumor Cranial Nerve III Tumor NCIT:C6994 Oculomotor Nerve Neoplasm DOID:2817 cranial nerve III tumor NCIT:C6994 MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 NCIT:C84793 Jervell and Lange Nielsen Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 JLNS1 NCIT:C84793 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C7558 endometrial cancer NCIT:C7558 -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes Neoplasm of the Prostate NCIT:C7574 Prostate Phyllodes Tumor NCIT:C7574, DOID:2885 phyllodes neoplasm of the prostate NCIT:C7574 -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor prostate phyllodes tumor Prostate Phyllodes Tumor NCIT:C7574 Prostate Phyllodes Tumor DOID:2885 prostate phyllodes tumor NCIT:C7574 MONDO:0002467 inner ear disorder oio:hasExactSynonym oio:hasNarrowSynonym vestibular disorder vestibular disorder Vestibular Disorder NCIT:C27166 Inner Ear Disorder NCIT:C27166 vestibular disorder NCIT:C27166 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes Malignant Cystosarcoma Phyllodes NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 malignant cystosarcoma phyllodes NCIT:C4275 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym malignant phyllodes neoplasm malignant phyllodes neoplasm Malignant Phyllodes Neoplasm NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 malignant phyllodes neoplasm NCIT:C4275 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast neoplasm phyllodes breast neoplasm Phyllodes Breast Neoplasm NCIT:C7575 Breast Phyllodes Tumor DOID:3016 phyllodes breast neoplasm NCIT:C7575 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumor phyllodes breast tumor Phyllodes Breast Tumor NCIT:C7575 Breast Phyllodes Tumor DOID:3016 phyllodes breast tumor NCIT:C7575 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C6958 MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C7049 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C9022 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C6958 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C7049 MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C9022 -MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis chronic gingivitis Chronic Gingivitis NCIT:C34474 Chronic Gingivitis ICD9CM:523.1, DOID:3087 chronic gingivitis NCIT:C34474 -MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor GI tumor GI Tumor NCIT:C3052 Digestive System Neoplasm NCIT:C3052, DOID:3119 GI tumor NCIT:C3052 -MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym fatty acid metabolism disorder fatty acid metabolism disorder Fatty Acid Metabolism Disorder NCIT:C117115 Fatty Acid Metabolism Disorder DOID:3146 fatty acid metabolism disorder NCIT:C117115 MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym lipid metabolism disorder lipid metabolism disorder Lipid Metabolism Disorder NCIT:C97092 Lipid Metabolism Disorder DOID:3146 lipid metabolism disorder NCIT:C97092 -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 glandular papilloma NCIT:C6880 -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 glandular papilloma NCIT:C6880 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C3288 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C4014 MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C4045 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C3288 MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C4014 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C4045 MONDO:0002561 lysosomal storage disease oio:hasExactSynonym oio:hasRelatedSynonym phospholipidosis phospholipidosis PHOSPHOLIPIDOSIS NCIT:C61250 Lysosomal Storage Disease NCIT:C61250 phospholipidosis NCIT:C61250 MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia aspiration pneumonia Aspiration Pneumonia NCIT:C34932 Aspiration Pneumonitis NCIT:C34932 aspiration pneumonia NCIT:C34932 MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change NCIT:C6940 Breast Fibrocystic Change, Proliferative Type DOID:3274, NCIT:C6940 proliferative fibrocystic change NCIT:C6940 -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic neoplasm thymic neoplasm Thymic Neoplasm NCIT:C3412 Thymus Neoplasm DOID:3277 thymic neoplasm NCIT:C3412 -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor thymic tumor Thymic Tumor NCIT:C3412 Thymus Neoplasm DOID:3277, NCIT:C3412 thymic tumor NCIT:C3412 MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma NCIT:C6585 osteosarcoma NCIT:C6585 -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma NCIT:C6585 osteosarcoma NCIT:C9145 -MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym oio:hasRelatedSynonym SCOS NCIT:C168988 Sertoli Cell-Only Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SCOS SCOS NCIT:C168988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002637 histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytic and dendritic cell neoplasms histiocytic and dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm ONCOTREE:HDCN histiocytic and dendritic cell neoplasms NCIT:C9294 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 cancer of scrotum NCIT:C6389 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the scrotum cancer of the scrotum Cancer of the Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 cancer of the scrotum NCIT:C6389 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym scrotal cancer scrotal cancer Scrotal Cancer NCIT:C6389 Scrotal Carcinoma NCIT:C6389 scrotal cancer NCIT:C6389 -MONDO:0002658 iris cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the iris tumor of the iris Tumor of the Iris NCIT:C3142 Iris Neoplasm NCIT:C3142, DOID:3478 tumor of the iris NCIT:C3142 -MONDO:0002659 uveal cancer oio:hasExactSynonym oio:hasBroadSynonym uveal tumor uveal tumor Uveal Tumor NCIT:C3436 Uveal Neoplasm DOID:3479, NCIT:C3436 uveal tumor NCIT:C3436 MONDO:0002670 ampulla of vater adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ampulla of vater adenocarcinoma of ampulla of vater Adenocarcinoma of Ampulla of Vater NCIT:C6650 Ampulla of Vater Adenocarcinoma DOID:3502 adenocarcinoma of ampulla of vater NCIT:C6650 MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym signet ring cell carcinoma of breast signet ring cell carcinoma of breast Signet Ring Cell Carcinoma of Breast NCIT:C5175 Breast Signet Ring Cell Carcinoma DOID:3503 signet ring cell carcinoma of breast NCIT:C5175 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C3043 MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C7809 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C8088 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C3043 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C7809 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C8088 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C3473 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 tumor of choroid plexus NCIT:C3473 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C42080 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C8568 -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C3473 -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C42080 MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C8568 -MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm childhood choroid plexus neoplasm Childhood Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3545 childhood choroid plexus neoplasm NCIT:C42080 -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma gonadoblastoma Gonadoblastoma NCIT:C3754 Gonadoblastoma OMIM:424500 gonadoblastoma NCIT:C3754 -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm CNS neoplasm CNS Neoplasm NCIT:C9293 Central Nervous System Neoplasm DOID:3620 CNS neoplasm NCIT:C9293 -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor central nervous system tumor Central Nervous System Tumor NCIT:C9293 Central Nervous System Neoplasm DOID:3620 central nervous system tumor NCIT:C9293 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of uterus neoplasm of uterus Neoplasm of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 neoplasm of uterus NCIT:C3435 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of uterus tumor of uterus Tumor of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 tumor of uterus NCIT:C3435 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym uterine tumor uterine tumor Uterine Tumor NCIT:C3435 Uterine Neoplasm DOID:363, NCIT:C3435 uterine tumor NCIT:C3435 -MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm NCIT:C6563 kidney neoplasm NCIT:C3150 MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm NCIT:C6563 kidney neoplasm NCIT:C6563 -MONDO:0002731 cerebral hemisphere cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of cerebrum tumor of cerebrum Tumor of Cerebrum NCIT:C4874 Cerebral Neoplasm DOID:368, NCIT:C4874 tumor of cerebrum NCIT:C4874 -MONDO:0002732 lung benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the lung tumor of the lung Tumor of the Lung NCIT:C3200 Lung Neoplasm NCIT:C3200, DOID:3683 tumor of the lung NCIT:C3200 MONDO:0002747 endometrial mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym uterine corpus mucinous adenocarcinoma uterine corpus mucinous adenocarcinoma Uterine Corpus Mucinous Adenocarcinoma NCIT:C40144 Endometrial Mucinous Adenocarcinoma DOID:3707, NCIT:C40144 uterine corpus mucinous adenocarcinoma NCIT:C40144 MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym SPB NCIT:C7812 Solitary Plasmacytoma of Bone http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SPB SPB NCIT:C7812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002782 cranial nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve palsies cranial nerve palsies Cranial nerve palsies NCIT:C26941 Cranial Nerve Palsy NCIT:C26941 cranial nerve palsies NCIT:C26941 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C3222 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C3997 MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C4011 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C3222 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C3997 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C4011 MONDO:0002803 intestinal pseudo-obstruction oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction intestinal pseudoobstruction Intestinal Pseudoobstruction NCIT:C34733 Intestinal Pseudo-Obstruction GARD:0006789 intestinal pseudoobstruction NCIT:C34733 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 sweat gland adenoma NCIT:C7560 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 sweat gland adenoma NCIT:C7560 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym acrospiroma acrospiroma Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 acrospiroma NCIT:C7563 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 eccrine acrospiroma NCIT:C7563 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 eccrine acrospiroma NCIT:C7563 -MONDO:0002808 pancreatic serous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym PSC NCIT:C4828 Primary Sclerosing Cholangitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PSC PSC NCIT:C4828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm adrenal neoplasm Adrenal Neoplasm NCIT:C2859 Adrenal Gland Neoplasm DOID:3953 adrenal neoplasm NCIT:C2859 -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland Tumor of the Adrenal Gland NCIT:C2859 Adrenal Gland Neoplasm NCIT:C2859, DOID:3953 tumor of the adrenal gland NCIT:C2859 -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma Merkel cell carcinoma Merkel Cell Carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 Merkel cell carcinoma NCIT:C9231 -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 Merkel cell carcinoma NCIT:C9231 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Ringertz carcinoma Ringertz carcinoma Ringertz Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Ringertz carcinoma NCIT:C54287 -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma Schneiderian carcinoma Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal Schneiderian carcinoma Sinonasal Schneiderian carcinoma Sinonasal Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal cylindrical cell carcinoma Sinonasal cylindrical cell carcinoma Sinonasal Cylindrical Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal cylindrical cell carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal transitional cell carcinoma Sinonasal transitional cell carcinoma Sinonasal Transitional Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal transitional cell carcinoma NCIT:C54287 -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym sinonasal squamous cell carcinoma sinonasal squamous cell carcinoma Sinonasal Squamous Cell Carcinoma NCIT:C68611 Sinonasal Squamous Cell Carcinoma ONCOTREE:SNSC sinonasal squamous cell carcinoma NCIT:C68611 MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma oio:hasExactSynonym oio:hasBroadSynonym biliary cystadenocarcinoma biliary cystadenocarcinoma Biliary Cystadenocarcinoma NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma DOID:4075, NCIT:C4130 biliary cystadenocarcinoma NCIT:C4130 -MONDO:0002889 orbital cancer oio:hasExactSynonym oio:hasBroadSynonym orbital tumor orbital tumor Orbital Tumor NCIT:C3290 Orbit Neoplasm DOID:4143, NCIT:C3290 orbital tumor NCIT:C3290 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem neoplasm malignant brain stem neoplasm Malignant Brain Stem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brain stem neoplasm NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem tumor malignant brain stem tumor Malignant Brain Stem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brain stem tumor NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem neoplasm malignant brainstem neoplasm Malignant Brainstem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm MONDO:patterns/cancer, NCIT:C3570 malignant brainstem neoplasm NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem tumor malignant brainstem tumor Malignant Brainstem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brainstem tumor NCIT:C3570 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of brain stem neoplasm of brain stem Neoplasm of Brain Stem NCIT:C4869 Brain Stem Neoplasm DOID:4203 neoplasm of brain stem NCIT:C4869 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm DOID:4203 tumor of the brainstem NCIT:C4869 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of adult brain stem neoplasm of adult brain stem Neoplasm of Adult Brain Stem NCIT:C5967 Adult Brain Stem Neoplasm DOID:4203 neoplasm of adult brain stem NCIT:C5967 -MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum Malignant Tumor of Cerebellum NCIT:C3569 Malignant Cerebellar Neoplasm DOID:4205, NCIT:C3569 malignant tumor of cerebellum NCIT:C3569 MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy centronuclear myopathy Centronuclear Myopathy NCIT:C84648 Congenital Structural Myopathy NCIT:C84648 centronuclear myopathy NCIT:C84648 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of the scrotum basal cell carcinoma of the scrotum Basal Cell Carcinoma of the Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma DOID:4278 basal cell carcinoma of the scrotum NCIT:C6386 MONDO:0002943 external ear basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of external ear basal cell carcinoma of external ear Basal Cell Carcinoma of External Ear NCIT:C6082 External Ear Basal Cell Carcinoma DOID:4287 basal cell carcinoma of external ear NCIT:C6082 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial basal cell carcinoma fibroepithelial basal cell carcinoma Fibroepithelial Basal Cell Carcinoma NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma DOID:4291 fibroepithelial basal cell carcinoma NCIT:C4109 -MONDO:0002969 ciliary body cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ciliary body tumor of the ciliary body Tumor of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm NCIT:C4364, DOID:4352 tumor of the ciliary body NCIT:C4364 -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym cervical neoplasm cervical neoplasm Cervical Neoplasm NCIT:C2940 Cervical Neoplasm DOID:4362 cervical neoplasm NCIT:C2940 -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the cervix uteri tumor of the cervix uteri Tumor of the Cervix Uteri NCIT:C2940 Cervical Neoplasm DOID:4362, NCIT:C2940 tumor of the cervix uteri NCIT:C2940 MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal NET small intestinal NET Small Intestinal NET NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 small intestinal NET NCIT:C96061 MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal neuroendocrine tumor small intestinal neuroendocrine tumor Small Intestinal Neuroendocrine Tumor NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 small intestinal neuroendocrine tumor NCIT:C96061 MONDO:0002998 skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of skull base meningioma of skull base Meningioma of Skull Base NCIT:C5272 Skull Base Meningioma NCIT:C5272 meningioma of skull base NCIT:C5272 MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma NCIT:C6568 renal cell cancer NCIT:C6568 -MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma NCIT:C6568 renal cell cancer NCIT:C9385 MONDO:0003010 multilocular clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym multilocular cystic renal neoplasm of low malignant potential multilocular cystic renal neoplasm of low malignant potential Multilocular Cystic Renal Neoplasm of Low Malignant Potential NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential Orphanet:319287 multilocular cystic renal neoplasm of low malignant potential NCIT:C4524 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder potassium deficiency disorder Potassium Deficiency Disorder NCIT:C34939 Potassium Deficiency Disorder DOID:4500 potassium deficiency disorder NCIT:C34939 -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C3088 Angiosarcoma NCIT:C9174 angiosarcoma NCIT:C3088 MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma NCIT:C9174 angiosarcoma NCIT:C9174 MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C27374 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C3737 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C3737 MONDO:0003053 choroid plexus meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of choroid plexus meningioma of choroid plexus Meningioma of Choroid Plexus NCIT:C4719 Choroid Plexus Meningioma NCIT:C4719 meningioma of choroid plexus NCIT:C4719 -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma NCIT:C8264 meningioma NCIT:C3230 MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma NCIT:C8264 meningioma NCIT:C8264 -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym muscle neoplasm muscle neoplasm Muscle Neoplasm NCIT:C4063 Myomatous Neoplasm DOID:461 muscle neoplasm NCIT:C4063 -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym myomatous tumor myomatous tumor Myomatous Tumor NCIT:C4063 Myomatous Neoplasm NCIT:C4063, DOID:461 myomatous tumor NCIT:C4063 MONDO:0003070 axillary lymphadenitis oio:hasExactSynonym oio:hasRelatedSynonym axillary adenitis axillary adenitis Axillary Adenitis NCIT:C27333 Axillary Lymphadenitis NCIT:C27333 axillary adenitis NCIT:C27333 -MONDO:0003072 retinal cancer oio:hasExactSynonym oio:hasBroadSynonym retinal tumor retinal tumor Retinal Tumor NCIT:C4800 Retinal Neoplasm DOID:4645, NCIT:C4800 retinal tumor NCIT:C4800 -MONDO:0003104 epicardium cancer oio:hasExactSynonym oio:hasBroadSynonym epicardial tumor epicardial tumor Epicardial Tumor NCIT:C5347 Epicardial Neoplasm DOID:4699, NCIT:C5347 epicardial tumor NCIT:C5347 -MONDO:0003113 extragonadal germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym tumor of extragonadal germ cell tumor of extragonadal germ cell Tumor of Extragonadal Germ Cell NCIT:C3918 Extragonadal Germ Cell Tumor DOID:4717 tumor of extragonadal germ cell NCIT:C3918 -MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor physiological malfunction arising from mental factor Physiological Malfunction Arising from Mental Factor NCIT:C35186 Physiological Malfunction Arising from Mental Factor DOID:4737 physiological malfunction arising from mental factor NCIT:C35186 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT mixed germ cell tumor NCIT:C4290 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT mixed germ cell tumor NCIT:C4290 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of testis mixed germ cell neoplasm of testis Mixed Germ Cell Neoplasm of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 mixed germ cell neoplasm of testis NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of the testis mixed germ cell neoplasm of the testis Mixed Germ Cell Neoplasm of the Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 mixed germ cell neoplasm of the testis NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis mixed germ cell tumor of testis Mixed Germ Cell Tumor of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor DOID:4743, NCIT:C6347 mixed germ cell tumor of testis NCIT:C6347 @@ -329,12 +141,9 @@ MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelat MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell neoplasm testicular mixed germ cell neoplasm Testicular Mixed Germ Cell Neoplasm NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 testicular mixed germ cell neoplasm NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell tumor testicular mixed germ cell tumor Testicular Mixed Germ Cell Tumor NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 testicular mixed germ cell tumor NCIT:C6347 MONDO:0003124 testicular Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Leydig cell tumor of the testis Leydig cell tumor of the testis Leydig Cell Tumor of the Testis NCIT:C6356 Testicular Leydig Cell Tumor NCIT:C6356 Leydig cell tumor of the testis NCIT:C6356 -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal Neoplasm NCIT:C3794 Sex Cord-Stromal Tumor DOID:4757 sex cord-stromal neoplasm NCIT:C3794 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of testis sex cord-stromal neoplasm of testis Sex Cord-Stromal Neoplasm of Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal neoplasm of testis NCIT:C6358 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of the testis sex cord-stromal neoplasm of the testis Sex Cord-Stromal Neoplasm of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal neoplasm of the testis NCIT:C6358 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal tumor of the testis sex cord-stromal tumor of the testis Sex Cord-Stromal Tumor of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal tumor of the testis NCIT:C6358 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C8501 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C9042 MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C9091 MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma NCIT:C9347 cancer of trachea NCIT:C9347 MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma NCIT:C9347 trachea cancer NCIT:C9347 @@ -343,37 +152,19 @@ MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendi MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer anal cancer Anal Cancer NCIT:C9291 Anal Carcinoma NCIT:C9291 anal cancer NCIT:C9291 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 cancer of anus NCIT:C9291 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the anus cancer of the anus Cancer of the Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 cancer of the anus NCIT:C9291 -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SBC NCIT:C2904 Simple Bone Cyst http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009408 SBC NCIT:C2904 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336, DOID:4931 cancer of nasal cavity NCIT:C9336 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasal cavity cancer of the nasal cavity Cancer of the Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 cancer of the nasal cavity NCIT:C9336 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 nasal cavity cancer NCIT:C9336 MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AIS AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer gallbladder cancer Gallbladder Cancer NCIT:C3844 Gallbladder Carcinoma NCIT:C3844 gallbladder cancer NCIT:C3844 -MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm NCIT:C8273 pineal parenchymal cell tumor NCIT:C6965 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm NCIT:C8273 pineal parenchymal cell tumor NCIT:C8273 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region Neoplasm of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 neoplasm of the pineal region NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma NCIT:C3328 Pineal Region Neoplasm DOID:5032 pinealoma NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region tumor of the pineal region Tumor of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 tumor of the pineal region NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm DOID:5032 pineocytic tumor NCIT:C6965 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym oio:hasRelatedSynonym cerebellar papillary meningioma cerebellar papillary meningioma Cerebellar Papillary Meningioma NCIT:C5270 Cerebellar Papillary Meningioma NCIT:C5270 cerebellar papillary meningioma NCIT:C5270 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C3904 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C3904 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C8293 -MONDO:0003273 sternum cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of sternum neoplasm of sternum Neoplasm of Sternum NCIT:C6730 Sternal Neoplasm DOID:5090 neoplasm of sternum NCIT:C6730 -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thoracic tumor thoracic tumor Thoracic Tumor NCIT:C3406 Thoracic Neoplasm DOID:5093, NCIT:C3406 thoracic tumor NCIT:C3406 -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax tumor of thorax Tumor of Thorax NCIT:C3406 Thoracic Neoplasm DOID:5093 tumor of thorax NCIT:C3406 -MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear tumor of the middle ear Tumor of the Middle Ear NCIT:C4412 Middle Ear Neoplasm NCIT:C4412, DOID:5099 tumor of the middle ear NCIT:C4412 MONDO:0003307 multiple mucosal neuroma oio:hasExactSynonym oio:hasRelatedSynonym multiple mucosal neuromas multiple mucosal neuromas Multiple Mucosal Neuromas NCIT:C6559 Multiple Mucosal Neuromas NCIT:C6559 multiple mucosal neuromas NCIT:C6559 -MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma benign pleural mesothelioma Benign Pleural Mesothelioma NCIT:C4499 Pleural Adenomatoid Tumor DOID:5157 benign pleural mesothelioma NCIT:C4499 -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant scrotal neoplasm malignant scrotal neoplasm Malignant Scrotal Neoplasm NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 malignant scrotal neoplasm NCIT:C3560 -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 malignant tumor of scrotum NCIT:C3560 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma GARD:0010175 perihilar cholangiocarcinoma NCIT:C36077 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of bladder clear cell adenocarcinoma of bladder Clear Cell Adenocarcinoma of Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma DOID:5306, NCIT:C6179 clear cell adenocarcinoma of bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the bladder clear cell adenocarcinoma of the bladder Clear Cell Adenocarcinoma of the Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of the bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the urinary bladder clear cell adenocarcinoma of the urinary bladder Clear Cell Adenocarcinoma of the Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of the urinary bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of urinary bladder clear cell adenocarcinoma of urinary bladder Clear Cell Adenocarcinoma of Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of urinary bladder NCIT:C6179 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-rich carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma NCIT:C4153 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-Rich Carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma NCIT:C4153 MONDO:0003393 thymus gland disorder oio:hasExactSynonym oio:hasRelatedSynonym thymus disorder thymus disorder Thymus Disorder NCIT:C26962 Thymus Disorder thymus disorder NCIT:C26962 MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of testis granulosa cell neoplasm of testis Granulosa Cell Neoplasm of Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 granulosa cell neoplasm of testis NCIT:C6357 MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of the testis granulosa cell neoplasm of the testis Granulosa Cell Neoplasm of the Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 granulosa cell neoplasm of the testis NCIT:C6357 @@ -397,12 +188,6 @@ MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym childhood central nervous system yolk Sac tumor childhood central nervous system yolk Sac tumor Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 childhood central nervous system yolk Sac tumor NCIT:C6209 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac neoplasm pediatric central nervous system yolk Sac neoplasm Pediatric Central Nervous System Yolk Sac Neoplasm NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 pediatric central nervous system yolk Sac neoplasm NCIT:C6209 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor Pediatric Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C6209 pediatric central nervous system yolk Sac tumor NCIT:C6209 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor NCIT:C6209 central nervous system yolk Sac tumor NCIT:C7011 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk sac tumor central nervous system yolk sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor MONDO:patterns/location central nervous system yolk sac tumor NCIT:C7011 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C7011 yolk Sac tumor of the CNS NCIT:C7011 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C27241 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C3011 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C3011 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of testis endodermal sinus neoplasm of testis Endodermal Sinus Neoplasm of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus neoplasm of testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of the testis endodermal sinus neoplasm of the testis Endodermal Sinus Neoplasm of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus neoplasm of the testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor of testis endodermal sinus tumor of testis Endodermal Sinus Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus tumor of testis NCIT:C8000 @@ -414,124 +199,59 @@ MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynony MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of testis yolk Sac tumor of testis Yolk Sac Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 yolk Sac tumor of testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of the testis yolk Sac tumor of the testis Yolk Sac Tumor of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 yolk Sac tumor of the testis NCIT:C8000 MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C27241 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C3011 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C3011 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C5461 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C6205 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C6285 MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix neoplasm hair matrix neoplasm Hair Matrix Neoplasm NCIT:C7367 Hair Follicle Neoplasm DOID:5375, NCIT:C7367 hair matrix neoplasm NCIT:C7367 MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix tumor hair matrix tumor Hair Matrix Tumor NCIT:C7367 Hair Follicle Neoplasm NCIT:C7367, DOID:5375 hair matrix tumor NCIT:C7367 -MONDO:0003443 papillary urothelial neoplasm oio:hasExactSynonym oio:hasRelatedSynonym inverted papilloma of urinary tract inverted papilloma of urinary tract Inverted Papilloma of Urinary Tract NCIT:C6192 Inverted Urothelial Papilloma NCIT:C6192, DOID:5433 inverted papilloma of urinary tract NCIT:C6192 MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym oio:hasRelatedSynonym adenoma of intrahepatic bile duct adenoma of intrahepatic bile duct Adenoma of Intrahepatic Bile Duct NCIT:C7126 Intrahepatic Bile Duct Adenoma DOID:5437 adenoma of intrahepatic bile duct NCIT:C7126 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign eccrine spiradenoma benign eccrine spiradenoma Benign Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170, DOID:5444 benign eccrine spiradenoma NCIT:C4170 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 eccrine spiradenoma NCIT:C4170 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 eccrine spiradenoma NCIT:C4170 -MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival Tumor NCIT:C2961 Conjunctival Neoplasm DOID:5467, NCIT:C2961 conjunctival tumor NCIT:C2961 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym oio:hasRelatedSynonym adenofibroma of uterine corpus adenofibroma of uterine corpus Adenofibroma of Uterine Corpus NCIT:C6337 Uterine Corpus Adenofibroma DOID:5475 adenofibroma of uterine corpus NCIT:C6337 -MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma NCIT:C8578 ependymoma NCIT:C3017 MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma NCIT:C8578 ependymoma NCIT:C8578 MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma dysgerminoma Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma ONCOTREE:ODYS dysgerminoma NCIT:C8106 -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma NCIT:C4121 -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma NCIT:C4121 -MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:5524 acantholytic squamous cell carcinoma NCIT:C4460 -MONDO:0003499 sarcomatoid squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma NCIT:C27084, DOID:5536 spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 MONDO:0003501 external ear squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of external ear squamous cell carcinoma of external ear Squamous Cell Carcinoma of External Ear NCIT:C6083 External Ear Squamous Cell Carcinoma DOID:5538 squamous cell carcinoma of external ear NCIT:C6083 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal NET anal canal NET Anal Canal NET NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm anal canal NET NCIT:C96540 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal neuroendocrine tumor anal canal neuroendocrine tumor Anal Canal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm anal canal neuroendocrine tumor NCIT:C96540 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal neuroendocrine tumor anal neuroendocrine tumor Anal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor DOID:5545 anal neuroendocrine tumor NCIT:C96540 -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:TCCA choriocarcinoma NCIT:C2948 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C7251 Malignant Testicular Neoplasm NCIT:C9063 testicular cancer NCIT:C7251 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor NCIT:C9063 testicular cancer NCIT:C9063 -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma NCIT:C9013 teratoma NCIT:C3403 MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma NCIT:C9013 teratoma NCIT:C9013 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma gastric gastrinoma Gastric Gastrinoma NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor DOID:5579 gastric gastrinoma NCIT:C27444 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital Papillary Adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 digital papillary adenocarcinoma NCIT:C27534 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 digital papillary adenocarcinoma NCIT:C27534 -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma breast solid papillary carcinoma Breast Solid Papillary Carcinoma NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 breast solid papillary carcinoma NCIT:C6870 -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast solid papillary carcinoma of the breast Solid Papillary Carcinoma of the Breast NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 solid papillary carcinoma of the breast NCIT:C6870 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3168 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm spinal cord neoplasm Spinal Cord Neoplasm NCIT:C3381 Spinal Cord Neoplasm DOID:5612 spinal cord neoplasm NCIT:C3381 -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm DOID:5612, NCIT:C3381 tumor of the spinal cord NCIT:C3381 MONDO:0003556 endometrial adenosquamous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial adenosquamous cancer endometrial adenosquamous cancer Endometrial Adenosquamous Cancer NCIT:C114656 Endometrial Adenosquamous Carcinoma GARD:0013107 endometrial adenosquamous cancer NCIT:C114656 -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:OEC embryonal carcinoma NCIT:C3752 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C7811 liposarcoma NCIT:C3194 MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C7811 liposarcoma NCIT:C7811 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C7811 liposarcoma NCIT:C8091 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C8091 liposarcoma NCIT:C3194 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C8091 liposarcoma NCIT:C7811 MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C8091 liposarcoma NCIT:C8091 -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm adrenal medulla neoplasm Adrenal Medulla Neoplasm NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 adrenal medulla neoplasm NCIT:C4856 -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor adrenal medulla tumor Adrenal Medulla Tumor NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 adrenal medulla tumor NCIT:C4856 -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy peripheral neuropathy Peripheral Neuropathy NCIT:C119734 Peripheral Neuropathy MESH:D010523, DOID:574 peripheral neuropathy NCIT:C119734 MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral nerve disease peripheral nerve disease Peripheral Nerve Disease NCIT:C27580 Peripheral Nervous System Disorder MTH:516, DOID:574, NCIT:C27580, MESH:D010523 peripheral nerve disease NCIT:C27580 -MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rectal neuroendocrine tumor rectal neuroendocrine tumor Rectal Neuroendocrine Tumor NCIT:C135213 Rectal Neuroendocrine Tumor ORCID:0000-0002-0587-4693, Orphanet:100081 rectal neuroendocrine tumor NCIT:C135213 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C5165 lymphoma NCIT:C3208 MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C5165 lymphoma NCIT:C5165 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C5165 lymphoma NCIT:C7587 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C7587 lymphoma NCIT:C3208 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C7587 lymphoma NCIT:C5165 MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C7587 lymphoma NCIT:C7587 -MONDO:0003666 fallopian tube endometrioid adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube endometrioid neoplasm fallopian tube endometrioid neoplasm Fallopian Tube Endometrioid Neoplasm NCIT:C40111 Fallopian Tube Endometrioid Tumor DOID:5831 fallopian tube endometrioid neoplasm NCIT:C40111 -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C4049 Anaplastic Ependymoma NCIT:C8269 anaplastic ependymoma NCIT:C4049 MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma NCIT:C8269 anaplastic ependymoma NCIT:C8269 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C4268 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C7947 MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C8097 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C4268 MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C7947 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C8097 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT mixed germ cell tumor NCIT:C4290 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT mixed germ cell tumor NCIT:C4290 MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA urachal carcinoma NCIT:C39842 MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal Carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA urachal carcinoma NCIT:C39842 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT mature teratoma NCIT:C9015 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT mature teratoma NCIT:C9015 -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:BIMT immature teratoma NCIT:C4286 -MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer Esophageal Ulcer NCIT:C26950 Esophageal Ulcer DOID:6050, NCIT:C26950 esophageal ulcer NCIT:C26950 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C5461 MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C6205 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C6285 -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C114777 -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C3708 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C7928 MONDO:0003752 frontal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of frontal sinus Schneiderian papilloma of frontal sinus Schneiderian Papilloma of Frontal Sinus NCIT:C6837 Frontal Sinus Papilloma NCIT:C6837 Schneiderian papilloma of frontal sinus NCIT:C6837 -MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm malignant ovarian mucinous neoplasm Malignant Ovarian Mucinous Neoplasm NCIT:C40033 Malignant Ovarian Mucinous Tumor DOID:6067 malignant ovarian mucinous neoplasm NCIT:C40033 MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor NCIT:C6552 testicular germ cell tumor NCIT:C6552 -MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C8591 Testicular Germ Cell Tumor NCIT:C6552 testicular germ cell tumor NCIT:C8591 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor childhood ovarian endodermal sinus tumor Childhood Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 childhood ovarian endodermal sinus tumor NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian yolk Sac neoplasm childhood ovarian yolk Sac neoplasm Childhood Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 childhood ovarian yolk Sac neoplasm NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus neoplasm pediatric ovarian endodermal sinus neoplasm Pediatric Ovarian Endodermal Sinus Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian endodermal sinus neoplasm NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus tumor pediatric ovarian endodermal sinus tumor Pediatric Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian endodermal sinus tumor NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian yolk Sac neoplasm pediatric ovarian yolk Sac neoplasm Pediatric Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian yolk Sac neoplasm NCIT:C6551 -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor NCIT:C8588 ovarian germ cell tumor NCIT:C3873 MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor NCIT:C8588 ovarian germ cell tumor NCIT:C8588 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym oio:hasRelatedSynonym melanoma of leptomeninges melanoma of leptomeninges Melanoma of Leptomeninges NCIT:C5317 Meningeal Melanoma NCIT:C5317 melanoma of leptomeninges NCIT:C5317 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of leptomeninges malignant neoplasm of leptomeninges Malignant Neoplasm of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant neoplasm of leptomeninges NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the leptomeninges malignant neoplasm of the leptomeninges Malignant Neoplasm of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant neoplasm of the leptomeninges NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the leptomeninges malignant tumor of the leptomeninges Malignant Tumor of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant tumor of the leptomeninges NCIT:C8506 -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic Bronchitis NCIT:C26722 Chronic Bronchitis DOID:6132 chronic bronchitis NCIT:C26722 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell neoplasm childhood testicular mixed germ cell neoplasm Childhood Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 childhood testicular mixed germ cell neoplasm NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell tumor childhood testicular mixed germ cell tumor Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 childhood testicular mixed germ cell tumor NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell neoplasm pediatric testicular mixed germ cell neoplasm Pediatric Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 pediatric testicular mixed germ cell neoplasm NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell tumor pediatric testicular mixed germ cell tumor Pediatric Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542, DOID:6161 pediatric testicular mixed germ cell tumor NCIT:C6542 -MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal Tumor NCIT:C4361 Corneal Neoplasm DOID:6199, NCIT:C4361 corneal tumor NCIT:C4361 MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary mature teratoma of the ovary Mature Teratoma of the Ovary NCIT:C8112 Mature Ovarian Teratoma NCIT:C8112 mature teratoma of the ovary NCIT:C8112 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT mature teratoma NCIT:C9015 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT mature teratoma NCIT:C9015 MONDO:0003835 gastric cardia adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of gastric cardia adenocarcinoma of gastric cardia Adenocarcinoma of Gastric Cardia NCIT:C5247 Gastric Cardia Adenocarcinoma DOID:6271 adenocarcinoma of gastric cardia NCIT:C5247 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting Adenoma of the Pituitary NCIT:C7915 Thyrotroph Pituitary Neuroendocrine Tumor DOID:6275, NCIT:C8011 TSH secreting adenoma of the pituitary NCIT:C7915 MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma NCIT:C6286 cerebellar astrocytoma NCIT:C6286 -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C9475 Cerebellar Astrocytoma NCIT:C6286 cerebellar astrocytoma NCIT:C9475 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic condition genetic condition Genetic Condition NCIT:C3101 Genetic Disorder NCIT:C3101 genetic condition NCIT:C3101 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disorder genetic disorder Genetic Disorder NCIT:C3101 Genetic Disorder NCIT:C3101 genetic disorder NCIT:C3101 MONDO:0003853 Bartholin gland adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of Bartholin's gland adenocarcinoma of Bartholin's gland Adenocarcinoma of Bartholin's Gland NCIT:C7719 Bartholin Gland Adenocarcinoma DOID:6316 adenocarcinoma of Bartholin's gland NCIT:C7719 MONDO:0003865 acral lentiginous melanoma oio:hasExactSynonym oio:hasRelatedSynonym acral melanoma acral melanoma Acral Melanoma NCIT:C4022 Acral Lentiginous Melanoma ONCOTREE:ACRM acral melanoma NCIT:C4022 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C8501 MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C9042 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C9091 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of testis childhood teratocarcinoma of testis Childhood Teratocarcinoma of Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood teratocarcinoma of testis NCIT:C6539 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis childhood teratocarcinoma of the testis Childhood Teratocarcinoma of the Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood teratocarcinoma of the testis NCIT:C6539 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular teratocarcinoma childhood testicular teratocarcinoma Childhood Testicular Teratocarcinoma NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood testicular teratocarcinoma NCIT:C6539 @@ -544,42 +264,25 @@ MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0003904 lung occult squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult squamous cell carcinoma of lung occult squamous cell carcinoma of lung Occult Squamous Cell Carcinoma of Lung NCIT:C6686 Occult Lung Squamous Cell Carcinoma DOID:6510 occult squamous cell carcinoma of lung NCIT:C6686 MONDO:0003923 ethmoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of ethmoid sinus Schneiderian papilloma of ethmoid sinus Schneiderian Papilloma of Ethmoid Sinus NCIT:C6836 Ethmoid Sinus Papilloma NCIT:C6836 Schneiderian papilloma of ethmoid sinus NCIT:C6836 MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma NCIT:C7535 visual pathway glioma NCIT:C7535 -MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C8567 Visual Pathway Glioma NCIT:C7535 visual pathway glioma NCIT:C8567 MONDO:0003933 chest wall bone cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant bone neoplasm of chest wall malignant bone neoplasm of chest wall Malignant Bone Neoplasm of Chest Wall NCIT:C6724 Malignant Chest Wall Bone Neoplasm DOID:6579 malignant bone neoplasm of chest wall NCIT:C6724 MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome NCIT:C3990 hyperimmunoglobulin M syndrome NCIT:C3990 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C5793 -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C6206 -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C7012 MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma NCIT:C8292 pineoblastoma NCIT:C8292 -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C9344 Pineoblastoma NCIT:C8292 pineoblastoma NCIT:C9344 MONDO:0003962 Froelich syndrome oio:hasExactSynonym oio:hasRelatedSynonym adiposogenital dystrophy adiposogenital dystrophy Adiposogenital Dystrophy NCIT:C34625 Frohlich Syndrome GARD:0006463 adiposogenital dystrophy NCIT:C34625 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva MESH:D009221 fibrodysplasia ossificans progressiva NCIT:C3040 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma DOID:6700, NCIT:C8398 cancer of fundus of stomach NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of gastric fundus cancer of gastric fundus Cancer of Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of gastric fundus NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fundus of the stomach cancer of the fundus of the stomach Cancer of the Fundus of the Stomach NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of the fundus of the stomach NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the gastric fundus cancer of the gastric fundus Cancer of the Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of the gastric fundus NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric fundus (stomach) cancer gastric fundus (stomach) cancer Gastric Fundus (Stomach) Cancer NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 gastric fundus (stomach) cancer NCIT:C8398 MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer bilateral breast cancer Bilateral Breast Cancer NCIT:C8287 Bilateral Breast Carcinoma DOID:6741, NCIT:C8287 bilateral breast cancer NCIT:C8287 -MONDO:0003989 polyembryoma of the ovary oio:hasExactSynonym oio:hasRelatedSynonym polyembryoma polyembryoma Polyembryoma NCIT:C66776 Gonadal Polyembryoma ONCOTREE:OPE polyembryoma NCIT:C66776 MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4047 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4047 MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4048 -MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial Polyp NCIT:C3337 Fibroepithelial Polyp NCIT:C3337, DOID:6873 fibroepithelial polyp NCIT:C3337 -MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma bladder transitional cell papilloma Bladder Transitional Cell Papilloma NCIT:C39858 Bladder Urothelial Papilloma DOID:6933 bladder transitional cell papilloma NCIT:C39858 -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma NCIT:C9047 intraocular retinoblastoma NCIT:C7846 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma NCIT:C9047 intraocular retinoblastoma NCIT:C9047 MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma NCIT:C4347 cerebral astrocytoma NCIT:C4347 -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4951 Cerebral Astrocytoma NCIT:C4347 cerebral astrocytoma NCIT:C4951 MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid squamous carcinoma of the esophagus basaloid squamous carcinoma of the esophagus Basaloid Squamous Carcinoma of the Esophagus NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 basaloid squamous carcinoma of the esophagus NCIT:C7032 MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma esophageal basaloid squamous cell carcinoma Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 esophageal basaloid squamous cell carcinoma NCIT:C7032 MONDO:0004094 multiple skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym multiple skull base meningiomas multiple skull base meningiomas Multiple Skull Base Meningiomas NCIT:C5279 Multiple Skull Base Meningiomas NCIT:C5279 multiple skull base meningiomas NCIT:C5279 -MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung small cell and large cell carcinoma of the lung Small Cell and Large Cell Carcinoma of the Lung NCIT:C9137 Combined Lung Small Cell Carcinoma NCIT:C9424, DOID:7081 small cell and large cell carcinoma of the lung NCIT:C9137 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mixed small cell and squamous cell carcinoma of lung mixed small cell and squamous cell carcinoma of lung Mixed Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma DOID:7081 mixed small cell and squamous cell carcinoma of lung NCIT:C9423 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C3714 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C3714 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C7944 MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C8095 MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult adenocarcinoma of lung occult adenocarcinoma of lung Occult Adenocarcinoma of Lung NCIT:C6699 Occult Lung Adenocarcinoma DOID:7168, NCIT:C6699 occult adenocarcinoma of lung NCIT:C6699 MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult lung adenocarcinoma occult lung adenocarcinoma Occult Lung Adenocarcinoma NCIT:C6699 Occult Lung Adenocarcinoma NCIT:C6699 occult lung adenocarcinoma NCIT:C6699 @@ -587,11 +290,7 @@ MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelate MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult large cell lung carcinoma occult large cell lung carcinoma Occult Large Cell Lung Carcinoma NCIT:C6685 Occult Lung Large Cell Carcinoma NCIT:C6685 occult large cell lung carcinoma NCIT:C6685 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed eosinophil-basophil adenoma mixed eosinophil-basophil adenoma Mixed Eosinophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma DOID:7179 mixed eosinophil-basophil adenoma NCIT:C4148 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric CNS embryonal cell carcinoma pediatric CNS embryonal cell carcinoma Pediatric CNS Embryonal Cell Carcinoma NCIT:C6208 Childhood Central Nervous System Embryonal Carcinoma DOID:7231 pediatric CNS embryonal cell carcinoma NCIT:C6208 -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of urinary system neoplasm of urinary system Neoplasm of Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731 neoplasm of urinary system NCIT:C3431 -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the urinary system tumor of the urinary system Tumor of the Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731, NCIT:C3431 tumor of the urinary system NCIT:C3431 -MONDO:0004192 urethra cancer oio:hasExactSynonym oio:hasRelatedSynonym urethral cancer urethral cancer Urethral Cancer NCIT:C9106 Urethral Carcinoma ONCOTREE:UCA urethral cancer NCIT:C9106 MONDO:0004201 pituitary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym pituitary gland hypoplasia pituitary gland hypoplasia Pituitary Gland Hypoplasia NCIT:C27343 Pituitary Gland Hypoplasia NCIT:C27343 pituitary gland hypoplasia NCIT:C27343 -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma germinoma Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C8712 germinoma NCIT:C7009 MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular yolk Sac tumor, polyvesicular vitelline pattern testicular yolk Sac tumor, polyvesicular vitelline pattern Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 testicular yolk Sac tumor, polyvesicular vitelline pattern NCIT:C39930 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial neoplasm benign mesothelial neoplasm Benign Mesothelial Neoplasm NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign mesothelial neoplasm NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial tumor benign mesothelial tumor Benign Mesothelial Tumor NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign mesothelial tumor NCIT:C3762 @@ -600,10 +299,9 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign neoplasm of the mesothelium benign neoplasm of the mesothelium Benign Neoplasm of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign neoplasm of the mesothelium NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium Benign Tumor of Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign tumor of mesothelium NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of the mesothelium benign tumor of the mesothelium Benign Tumor of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign tumor of the mesothelium NCIT:C3762 +MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign MESOTHELIOMA, BENIGN NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, Benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 -MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma DOID:7497 brain ependymoma NCIT:C9372 MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma supratentorial ependymoma Supratentorial Ependymoma NCIT:C9043 Childhood Supratentorial Ependymoma, Not Otherwise Specified NCIT:C9043 supratentorial ependymoma NCIT:C9043 MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis breast intraductal papillomatosis Breast Intraductal Papillomatosis NCIT:C5201 Breast Intraductal Papillomatosis DOID:7511 breast intraductal papillomatosis NCIT:C5201 MONDO:0004254 focal intraductal papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym localized intraductal papillomatosis localized intraductal papillomatosis Localized Intraductal Papillomatosis NCIT:C7365 Focal Intraductal Papillomatosis NCIT:C7365 localized intraductal papillomatosis NCIT:C7365 @@ -622,50 +320,30 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic intraductal papillary-colloidal carcinoma pancreatic intraductal papillary-colloidal carcinoma Pancreatic Intraductal Papillary-Colloidal Carcinoma NCIT:C5725 Pancreatic Intraductal Papillary-Mucinous Carcinoma NCIT:C5725 pancreatic intraductal papillary-colloidal carcinoma NCIT:C5725 MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma breast scirrhous carcinoma Breast Scirrhous Carcinoma NCIT:C7362 Breast Scirrhous Carcinoma DOID:7578 breast scirrhous carcinoma NCIT:C7362 MONDO:0004290 subglottis verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym verrucous carcinoma of the subglottis verrucous carcinoma of the subglottis Verrucous Carcinoma of the Subglottis NCIT:C8190 Subglottic Verrucous Carcinoma DOID:7584 verrucous carcinoma of the subglottis NCIT:C8190 -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C4915 MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin acantholytic squamous cell carcinoma of skin Acantholytic Squamous Cell Carcinoma of Skin NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:7643 acantholytic squamous cell carcinoma of skin NCIT:C4460 MONDO:0004327 sphenoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of sphenoid sinus Schneiderian papilloma of sphenoid sinus Schneiderian Papilloma of Sphenoid Sinus NCIT:C6838 Sphenoid Sinus Papilloma NCIT:C6838 Schneiderian papilloma of sphenoid sinus NCIT:C6838 MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of maxillary sinus adenocarcinoma of maxillary sinus Adenocarcinoma of Maxillary Sinus NCIT:C6240 Maxillary Sinus Adenocarcinoma NCIT:C6240, DOID:7684 adenocarcinoma of maxillary sinus NCIT:C6240 MONDO:0004331 bladder urachal adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal adenocarcinoma urachal adenocarcinoma Urachal Adenocarcinoma NCIT:C39843 Urachal Adenocarcinoma ONCOTREE:UA urachal adenocarcinoma NCIT:C39843 -MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed ductal-endocrine carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma NCIT:C4301 +MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma NCIT:C8090 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant peripheral nerve sheath tumour NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C7814 MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C8094 -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma NCIT:C9048 extraocular retinoblastoma NCIT:C7848 MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma NCIT:C9048 extraocular retinoblastoma NCIT:C9048 MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma NCIT:C9372 brain ependymoma NCIT:C9372 -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C3161 Leukemia NCIT:C4989 leukemia NCIT:C3161 MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia NCIT:C4989 leukemia NCIT:C4989 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 cancer of subglottis NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the subglottis cancer of the subglottis Cancer of the Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 cancer of the subglottis NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic cancer subglottic cancer Subglottic Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 subglottic cancer NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic throat cancer subglottic throat cancer Subglottic Throat Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 subglottic throat cancer NCIT:C5972 MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma NCIT:C27399 spinal cord ependymoma NCIT:C27399 -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma NCIT:C27399 spinal cord ependymoma NCIT:C3875 MONDO:0004371 spinal multifocal clear cell meningioma oio:hasExactSynonym oio:hasRelatedSynonym multifocal clear cell meningioma of the spine multifocal clear cell meningioma of the spine Multifocal Clear Cell Meningioma of the Spine NCIT:C5287 Spinal Multifocal Clear Cell Meningioma NCIT:C5287 multifocal clear cell meningioma of the spine NCIT:C5287 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C3904 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C3904 MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C8293 MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma NCIT:C7925 extraskeletal osteosarcoma NCIT:C7925 -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma NCIT:C7925 extraskeletal osteosarcoma NCIT:C8810 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 follicular dendritic cell sarcoma NCIT:C9281 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 follicular dendritic cell sarcoma NCIT:C9281 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C27406 MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C5792 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C7009 MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C27402 -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C27403 -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C7016 MONDO:0004441 childhood ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood embryonal carcinoma of the ovary childhood embryonal carcinoma of the ovary Childhood Embryonal Carcinoma of the Ovary NCIT:C6546 Childhood Ovarian Embryonal Carcinoma DOID:8036 childhood embryonal carcinoma of the ovary NCIT:C6546 MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C27406 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C5792 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C7009 MONDO:0004457 maxillary sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of maxillary sinus Schneiderian papilloma of maxillary sinus Schneiderian Papilloma of Maxillary Sinus NCIT:C6839 Maxillary Sinus Papilloma NCIT:C6839 Schneiderian papilloma of maxillary sinus NCIT:C6839 MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym skin pseudovascular squamous cell carcinoma skin pseudovascular squamous cell carcinoma Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 skin pseudovascular squamous cell carcinoma NCIT:C27542 MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym epiglottic carcinoma epiglottic carcinoma Epiglottic Carcinoma NCIT:C35697 Epiglottic Carcinoma NCIT:C35697 epiglottic carcinoma NCIT:C35697 @@ -696,19 +374,11 @@ MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelated MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of oxyphilic cell type thyroid gland follicular adenoma of oxyphilic cell type Thyroid Gland Follicular Adenoma of Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid gland follicular adenoma of oxyphilic cell type NCIT:C6042 MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of the oxyphilic cell type thyroid gland follicular adenoma of the oxyphilic cell type Thyroid Gland Follicular Adenoma of the Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid gland follicular adenoma of the oxyphilic cell type NCIT:C6042 MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid oncocytic adenoma thyroid oncocytic adenoma Thyroid Oncocytic Adenoma NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid oncocytic adenoma NCIT:C6042 -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:UCCA choriocarcinoma NCIT:C2948 MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer lung hilum cancer Lung Hilum Cancer NCIT:C7454 Lung Hilum Carcinoma NCIT:C7454 lung hilum cancer NCIT:C7454 MONDO:0004500 lung superior sulcus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym superior sulcus carcinoma of lung superior sulcus carcinoma of lung Superior Sulcus Carcinoma of Lung NCIT:C7779 Superior Sulcus Lung Carcinoma DOID:8208 superior sulcus carcinoma of lung NCIT:C7779 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis NCIT:C6891, DOID:8243 leptomeningeal melanomatosis NCIT:C6891 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C3714 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C3714 MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C7944 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C8095 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant peripheral nerve sheath tumour NCIT:C3798 MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C7814 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C8094 MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis Meckel's diverticulitis Meckel's Diverticulitis NCIT:C27300 Meckel Diverticulitis NCIT:C27300 Meckel's diverticulitis NCIT:C27300 MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym IFS NCIT:C4244 Infantile Fibrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IFS IFS NCIT:C4244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma DOID:8419 colloid adenoma NCIT:C4161 @@ -716,12 +386,10 @@ MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasR MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine deficiency pyridoxine deficiency Pyridoxine Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681 pyridoxine deficiency NCIT:C85221 MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym vitamin B6 deficiency vitamin B6 deficiency Vitamin B6 Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681, GARD:0004616 vitamin B6 deficiency NCIT:C85221 MONDO:0004597 pulmonary embolism and infarction oio:hasExactSynonym oio:hasRelatedSynonym pulmonary infarction pulmonary infarction Pulmonary Infarction NCIT:C50714 Pulmonary Infarction pulmonary infarction NCIT:C50714 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym oropharyngeal carcinoma oropharyngeal carcinoma Oropharyngeal Carcinoma NCIT:C9105 Oropharyngeal Carcinoma DOID:8557, NCIT:C9105 oropharyngeal carcinoma NCIT:C9105 MONDO:0004619 measles oio:hasExactSynonym oio:hasRelatedSynonym rubeola rubeola Rubeola NCIT:C96406 Measles GARD:0003434 rubeola NCIT:C96406 MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the tongue malignant neoplasm of the tongue Malignant Neoplasm of the Tongue NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345 malignant neoplasm of the tongue NCIT:C9345 MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym tongue neoplasm malignant stage unspecified tongue neoplasm malignant stage unspecified Tongue Neoplasm Malignant Stage Unspecified NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345, DOID:8649 tongue neoplasm malignant stage unspecified NCIT:C9345 MONDO:0004647 in situ carcinoma oio:hasExactSynonym oio:hasBroadSynonym CIS NCIT:C2917 Carcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2917 CIS NCIT:C2917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004648 vascular dementia oio:hasExactSynonym oio:hasNarrowSynonym multi infarct dementia multi infarct dementia Multi Infarct Dementia NCIT:C34522 Multi-Infarct Dementia DOID:8725, MTH:NOCODE, NCIT:C34522 multi infarct dementia NCIT:C34522 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma, malignant chemodectoma, malignant CHEMODECTOMA, MALIGNANT NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 chemodectoma, malignant NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body neoplasm malignant carotid body neoplasm Malignant Carotid Body Neoplasm NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant carotid body neoplasm NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor malignant carotid body tumor Malignant Carotid Body Tumor NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant carotid body tumor NCIT:C3574 @@ -729,37 +397,21 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the carotid body malignant neoplasm of the carotid body Malignant Neoplasm of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant neoplasm of the carotid body NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of carotid body malignant tumor of carotid body Malignant Tumor of Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant tumor of carotid body NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the carotid body malignant tumor of the carotid body Malignant Tumor of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant tumor of the carotid body NCIT:C3574 -MONDO:0004669 salivary gland cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of major salivary gland malignant neoplasm of major salivary gland Malignant Neoplasm of Major Salivary Gland NCIT:C4762 Malignant Major Salivary Gland Neoplasm DOID:8850 malignant neoplasm of major salivary gland NCIT:C4762 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma DOID:8991 squamous intraepithelial neoplasia, grade III NCIT:C27093 -MONDO:0004701 uterine polyp oio:hasExactSynonym oio:hasNarrowSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp NCIT:C6433, DOID:9042 polyp of endometrium NCIT:C6433 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of liver inflammatory pseudotumor of liver Inflammatory Pseudotumor of Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 inflammatory pseudotumor of liver NCIT:C5858 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor DOID:918, NCIT:C5858 inflammatory pseudotumor of the liver NCIT:C5858 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor liver inflammatory pseudotumor Liver Inflammatory Pseudotumor NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 liver inflammatory pseudotumor NCIT:C5858 -MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym UCD NCIT:C115200 Unicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007837 UCD NCIT:C115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004749 myocardium cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of myocardium tumor of myocardium Tumor of Myocardium NCIT:C5349 Myocardial Neoplasm DOID:9299, NCIT:C5349 tumor of myocardium NCIT:C5349 -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis laryngitis Laryngitis NCIT:C26811 Laryngitis NCIT:C26688 laryngitis NCIT:C26811 -MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis meningitis Meningitis NCIT:C26828 Meningitis DOID:9471 meningitis NCIT:C26828 -MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal Ophthalmia Neonatorum NCIT:C116816 Gonococcal Ophthalmia Neonatorum DOID:9699 gonococcal ophthalmia neonatorum NCIT:C116816 MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia Areata NCIT:C50575 Alopecia NCIT:C50575 alopecia areata NCIT:C50575 -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis dacryoadenitis Dacryoadenitis NCIT:C26971 Dacryoadenitis MESH:D003607 dacryoadenitis NCIT:C26971 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911 cancer of stomach NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach cancer of the stomach Cancer of the Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911, DOID:5517 cancer of the stomach NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric (stomach) cancer gastric (stomach) cancer Gastric (Stomach) Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 gastric (stomach) cancer NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 gastric cancer NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 stomach cancer NCIT:C4911 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma MONDO:patterns/cancer cancer of fundus of stomach NCIT:C8398 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer gastric fundus cancer Gastric Fundus Cancer NCIT:C8398 Gastric Fundus Carcinoma DOID:10538 gastric fundus cancer NCIT:C8398 -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym oio:hasRelatedSynonym PTCL NCIT:C3468 Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PTCL PTCL NCIT:C3468 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia lymphoblastic leukemia Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3167 lymphoblastic leukemia NCIT:C3167 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma NCIT:C27094 Cylindroma GARD:0005743 cylindroma NCIT:C27094 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma cribriform carcinoma Cribriform Carcinoma NCIT:C3680 Cribriform Carcinoma GARD:0005743 cribriform carcinoma NCIT:C3680 MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym adenoma, benign adenoma, benign ADENOMA, BENIGN NCIT:C2855 Adenoma NCIT:C2855 adenoma, benign NCIT:C2855 MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma pheochromocytoma Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma NCIT:C3326 pheochromocytoma NCIT:C3326 MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym AITL NCIT:C7528 Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AITL, GARD:0011973 AITL NCIT:C7528 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive Disorder NCIT:C34423 Bipolar Disorder NCIT:C34423, DOID:3312 manic depressive disorder NCIT:C34423 -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym bipolar depression bipolar depression Bipolar Depression NCIT:C34424 Bipolar Depression DOID:3312 bipolar depression NCIT:C34424 -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic bipolar affective disorder manic bipolar affective disorder Manic Bipolar Affective Disorder NCIT:C34805 Manic Bipolar Affective Disorder NCIT:C34805, DOID:3312 manic bipolar affective disorder NCIT:C34805 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C4912 bladder cancer NCIT:C118816 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C4912 bladder cancer NCIT:C4912 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of bladder cancer of bladder Cancer of Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 cancer of bladder NCIT:C4912 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the bladder cancer of the bladder Cancer of the Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 cancer of the bladder NCIT:C4912 @@ -769,25 +421,17 @@ MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma NCIT:C4872 breast cancer NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 cancer of breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the breast cancer of the breast Cancer of the Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 cancer of the breast NCIT:C4872 -MONDO:0004993 carcinoma oio:hasExactSynonym oio:hasBroadSynonym epithelioma epithelioma Epithelioma NCIT:C3709 Epithelial Neoplasm DOID:305 epithelioma NCIT:C3709 -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C3171 -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C3171 MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C9160 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell adenocarcinoma mesonephroid clear cell adenocarcinoma Mesonephroid Clear Cell Adenocarcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 mesonephroid clear cell adenocarcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma DOID:4468, NCIT:C3766 mesonephroid clear cell carcinoma NCIT:C3766 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Wolffian duct neoplasm Wolffian duct neoplasm Wolffian Duct Neoplasm NCIT:C40141 Wolffian Tumor DOID:4468 Wolffian duct neoplasm NCIT:C40141 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant mesonephroma malignant mesonephroma Malignant Mesonephroma NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468, NCIT:C4072 malignant mesonephroma NCIT:C4072 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468 mesonephroma, malignant NCIT:C4072 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C8028 Endometrial Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C8028 MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma hypernephroma Hypernephroma NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 hypernephroma NCIT:C4033 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive Cardiomyopathy NCIT:C84673 Dilated Cardiomyopathy DOID:12930 congestive cardiomyopathy NCIT:C84673 MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast ductal carcinoma in situ breast ductal carcinoma in situ Breast Ductal Carcinoma In Situ NCIT:C2924 Breast Ductal Carcinoma In Situ ONCOTREE:DCIS breast ductal carcinoma in situ NCIT:C2924 -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET NCIT:C3407 Essential Thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 ET NCIT:C3407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma thyroid gland adenocarcinoma Thyroid Gland Adenocarcinoma NCIT:C27380 Thyroid Gland Adenocarcinoma MONDO:patterns/location thyroid gland adenocarcinoma NCIT:C27380 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular adenocarcinoma NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated NCIT:C8054 Thyroid Gland Follicular Carcinoma DOID:3962 follicular adenocarcinoma, well differentiated NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of the thyroid follicular cancer of the thyroid Follicular Cancer of the Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of the thyroid NCIT:C8054 @@ -795,31 +439,19 @@ MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid follicular cancer of thyroid Follicular Cancer of Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of thyroid NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid gland follicular cancer of thyroid gland Follicular Cancer of Thyroid Gland NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of thyroid gland NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland follicular cancer thyroid gland follicular cancer Thyroid Gland Follicular Cancer NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 thyroid gland follicular cancer NCIT:C8054 -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-Differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 +MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 MONDO:0005036 gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym STAD NCIT:C4004 Gastric Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:STAD STAD NCIT:C4004 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension hypertension Hypertension NCIT:C3117 Hypertension DOID:10763 hypertension NCIT:C3117 MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN NCIT:C3117 Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 HTN NCIT:C3117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy NCIT:C84773 Familial Hypertrophic Cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy NCIT:C84773 MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility infertility Infertility NCIT:C3836 Infertility DOID:5223 infertility NCIT:C3836 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma DOID:3457 lobular carcinoma NCIT:C3771 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular Carcinoma of the Breast NCIT:C3771 Breast Lobular Carcinoma DOID:3457 lobular carcinoma of the breast NCIT:C3771 MONDO:0005053 ischemic disease oio:hasExactSynonym oio:hasRelatedSynonym ischemia ischemia Ischemia NCIT:C34738 Ischemia DOID:326, NCIT:C34738 ischemia NCIT:C34738 -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple Hemorrhagic Sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast medullary carcinoma breast medullary carcinoma Breast Medullary Carcinoma NCIT:C9119 Breast Medullary Carcinoma DOID:5605 breast medullary carcinoma NCIT:C9119 MONDO:0005070 neoplasm oio:hasExactSynonym oio:hasNarrowSynonym other neoplasm other neoplasm Other Neoplasm NCIT:C3262 Neoplasm NCIT:C3262 other neoplasm NCIT:C3262 -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy DOID:10591 toxemia of pregnancy NCIT:C34943 MONDO:0005082 prostate adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym PRAD prad PRAD NCIT:C2919 Prostate Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PRAD PRAD NCIT:C2919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton tumor of soft tissue and skeleton Tumor of Soft Tissue and Skeleton NCIT:C3810 Connective and Soft Tissue Neoplasm NCIT:C3810, DOID:1115 tumor of soft tissue and skeleton NCIT:C3810 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective Disorder NCIT:C94378 Schizoaffective Disorder OMIM:181500 schizoaffective disorder NCIT:C94378 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma DOID:264 malignant hemangiopericytoma NCIT:C4301 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma DOID:264 malignant hemangiopericytoma NCIT:C8090 MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke NCIT:C3390 cerebral infarction NCIT:C3390 -MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction NCIT:C3390 cerebral infarction NCIT:C50486 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma NCIT:C26746 Scleroderma DOID:418 Scleroderma NCIT:C26746 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous Neoplasm NCIT:C4248 Lipomatous Neoplasm DOID:3315 lipomatous neoplasm NCIT:C4248 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous Tumor NCIT:C4248 Lipomatous Neoplasm NCIT:C4248, DOID:3315 lipomatous tumor NCIT:C4248 MONDO:0005109 HIV infectious disease oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus infectious disease human immunodeficiency virus infectious disease Human Immunodeficiency Virus Infectious Disease NCIT:C3108 HIV Infection DOID:526 human immunodeficiency virus infectious disease NCIT:C3108 MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple's disease Whipple's disease Whipple's Disease NCIT:C85228 Whipple Disease ICD9CM:040.2, DOID:8476 Whipple's disease NCIT:C85228 MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix cancer of cervix Cancer of Cervix NCIT:C9039 Cervical Carcinoma DOID:2893, NCIT:C9039 cancer of cervix NCIT:C9039 @@ -834,17 +466,15 @@ MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of t MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma NCIT:C4878 lung cancer NCIT:C4878 MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 ovarian cancer NCIT:C4908 MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 ovarian epithelial cancer NCIT:C4908 -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C7431 Malignant Ovarian Neoplasm NCIT:C4908 ovarian cancer NCIT:C7431 MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis NCIT:C3389 Post-Traumatic Stress Disorder NCIT:C3389 combat neurosis NCIT:C3389 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis liver cirrhosis Liver Cirrhosis NCIT:C2951 Cirrhosis DOID:5082 liver cirrhosis NCIT:C2951 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate cancer of prostate Cancer of Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 cancer of prostate NCIT:C4863 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of the prostate cancer of the prostate Cancer of the Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 cancer of the prostate NCIT:C4863 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer prostate cancer Prostate Cancer NCIT:C4863 Prostate Carcinoma NCIT:C4863 prostate cancer NCIT:C4863 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic Tumor NCIT:C7075 Fibroblastic Neoplasm DOID:3355, NCIT:C7075 fibrocytic tumor NCIT:C7075 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor benign tumor Benign Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 benign tumor NCIT:C3677 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign unclassifiable tumor benign unclassifiable tumor Benign Unclassifiable Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 benign unclassifiable tumor NCIT:C3677 -MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign NEOPLASM, BENIGN NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 +MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis Senile hyperkeratosis Senile Hyperkeratosis NCIT:C3148 Actinic Keratosis DOID:8866 Senile hyperkeratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile keratosis Senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 Senile keratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 senile keratosis NCIT:C3148 @@ -865,62 +495,33 @@ MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the hypopharynx cancer of the hypopharynx Cancer of the Hypopharynx NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 cancer of the hypopharynx NCIT:C9465 MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 hypopharyngeal cancer NCIT:C9465 MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal throat cancer hypopharyngeal throat cancer Hypopharyngeal Throat Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 hypopharyngeal throat cancer NCIT:C9465 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma NCIT:C7572 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma NCIT:C7572 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infection urinary tract infection Urinary Tract Infection NCIT:C50791 Urinary Tract Infection MONDO:ambiguous urinary tract infection NCIT:C50791 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infectious disease urinary tract infectious disease Urinary Tract Infectious Disease NCIT:C50791 Urinary Tract Infection NCIT:C50791 urinary tract infectious disease NCIT:C50791 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym UTI NCIT:C50791 Urinary Tract Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C50791 UTI NCIT:C50791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder autism spectrum disorder Autism Spectrum Disorder NCIT:C88412 Autism Spectrum Disorder OMIM:209850 autism spectrum disorder NCIT:C88412 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder autistic disorder Autistic Disorder NCIT:C97161 Autism OMIM:209850 autistic disorder NCIT:C97161 -MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity hypersensitivity Hypersensitivity NCIT:C3114 Hypersensitivity DOID:1205 hypersensitivity NCIT:C3114 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym aregenerative anemia aregenerative anemia Aregenerative Anemia NCIT:C2872 Refractory Anemia NCIT:C2872 aregenerative anemia NCIT:C2872 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma serous cystadenocarcinoma Serous Cystadenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma DOID:3114 serous cystadenocarcinoma NCIT:C3778 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma serous carcinoma Serous carcinoma NCIT:C7550 Ovarian Serous Adenocarcinoma DOID:3114 serous carcinoma NCIT:C7550 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic Renal Insufficiency NCIT:C80078 Chronic Kidney Disease NCIT:C80078 chronic renal insufficiency NCIT:C80078 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym necrotizing enterocolitis in fetus or newborn necrotizing enterocolitis in fetus or newborn Necrotizing Enterocolitis in Fetus or Newborn NCIT:C84915 Necrotizing Enterocolitis NCIT:C84915 necrotizing enterocolitis in fetus or newborn NCIT:C84915 MONDO:0005316 bacterial vaginosis oio:hasExactSynonym oio:hasBroadSynonym BV NCIT:C116973 Bacterial Vaginosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C116973 BV NCIT:C116973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous Stomatitis NCIT:C62546 Canker Sore NCIT:C62546 aphthous stomatitis NCIT:C62546 MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous stomatitis NCIT:C62546 Canker Sore NCIT:C62546 aphthous stomatitis NCIT:C62546 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C156767 Basal Cell Carcinoma NCIT:C2921 basal cell carcinoma NCIT:C156767 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921, DOID:2513 basal cell cancer NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921 basal cell carcinoma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym BCC NCIT:C2921 Skin Basal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2921 BCC NCIT:C2921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal cell tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 basal cell tumor NCIT:C3784 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal Cell Tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 basal cell tumor NCIT:C3784 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease DOID:11949 Creutzfeldt-Jakob disease NCIT:C26802 MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Basedow disease Basedow disease Basedow Disease NCIT:C3071 Graves Disease GARD:0006549 Basedow disease NCIT:C3071 MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' disease Graves' disease Graves' Disease NCIT:C3071 Graves Disease DOID:12361 Graves' disease NCIT:C3071 -MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor Malignant Bone Marrow Tumor NCIT:C35501 Malignant Bone Marrow Neoplasm DOID:4960 malignant bone marrow tumor NCIT:C35501 MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis nephrosis Nephrosis NCIT:C34845 Nephrotic Syndrome NCIT:C34845 nephrosis NCIT:C34845 -MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression neurotic depression Neurotic Depression NCIT:C35369 Neurotic Depression DOID:4964 neurotic depression NCIT:C35369 MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease NCIT:C3292 Paget's disease NCIT:C3292 -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease NCIT:C3292 Paget's disease NCIT:C7073 MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease peripheral artery disease Peripheral Artery Disease NCIT:C84496 Peripheral Artery Disease DOID:0050830 peripheral artery disease NCIT:C84496 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism (female) hypergonadotropic hypogonadism (female) Hypergonadotropic Hypogonadism (Female) NCIT:C113352 Primary Ovarian Failure NCIT:C113352 hypergonadotropic hypogonadism (female) NCIT:C113352 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause premature menopause Premature Menopause NCIT:C80099 Premature Menopause DOID:5426 premature menopause NCIT:C80099 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure premature ovarian failure Premature Ovarian Failure NCIT:C80099 Premature Menopause MESH:D016649, Orphanet:619 premature ovarian failure NCIT:C80099 MONDO:0005391 restless legs syndrome oio:hasExactSynonym oio:hasBroadSynonym RLS NCIT:C84501 Restless Leg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C84501 RLS NCIT:C84501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym gallbladder neoplasm gallbladder neoplasm Gallbladder Neoplasm NCIT:C3048 Gallbladder Neoplasm DOID:3121, MTH:NOCODE gallbladder neoplasm NCIT:C3048 -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the gallbladder tumor of the gallbladder Tumor of the Gallbladder NCIT:C3048 Gallbladder Neoplasm NCIT:C3048, DOID:3121 tumor of the gallbladder NCIT:C3048 MONDO:0005439 familial hypercholesterolemia oio:hasExactSynonym oio:hasRelatedSynonym type II hyperlipidemia type II hyperlipidemia Type II Hyperlipidemia NCIT:C34704 Hyperlipoproteinemia, Type II DOID:13810, NCIT:C34704 type II hyperlipidemia NCIT:C34704 -MONDO:0005447 testicular cancer oio:hasExactSynonym oio:hasBroadSynonym testicular tumor testicular tumor Testicular Tumor NCIT:C3404 Testicular Neoplasm DOID:2998, NCIT:C3404 testicular tumor NCIT:C3404 -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma Endometrial Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma DOID:2870 endometrial endometrioid adenocarcinoma NCIT:C6287 -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium Endometrioid Carcinoma of Endometrium NCIT:C6287 Endometrial Endometrioid Adenocarcinoma NCIT:C6287, DOID:2870 endometrioid carcinoma of endometrium NCIT:C6287 MONDO:0005462 primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor NCIT:C3716 neuroepithelioma NCIT:C3716 MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma NCIT:C27814 bile duct cancer NCIT:C27814 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne Botulism NCIT:C128341 Foodborne Botulism DOID:11976 foodborne botulism NCIT:C128341 MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym hereditary multiple exostoses hereditary multiple exostoses Hereditary Multiple Exostoses NCIT:C5183 Hereditary Multiple Exostoses GARD:0007035 hereditary multiple exostoses NCIT:C5183 -MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym peritoneal mesothelioma peritoneal mesothelioma Peritoneal Mesothelioma NCIT:C7633 Peritoneal Mesothelial Neoplasm DOID:1788 peritoneal mesothelioma NCIT:C7633 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasRelatedSynonym mouth cancer mouth cancer Mouth Cancer NCIT:C8990 Oral Cavity Carcinoma mouth cancer NCIT:C8990 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm MTH:NOCODE, DOID:8618 malignant neoplasm of floor of mouth NCIT:C9318 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm NCIT:C9318, DOID:8618 malignant tumor of the floor of the mouth NCIT:C9318 -MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasNarrowSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder DOID:2256, NCIT:C34466 cartilage development disorder NCIT:C34466 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasRelatedSynonym skeletal dysplasia skeletal dysplasia Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia NCIT:C84978 skeletal dysplasia NCIT:C84978 -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasBroadSynonym pharynx neoplasm pharynx neoplasm Pharynx Neoplasm NCIT:C3325 Pharyngeal Neoplasm DOID:0060119 pharynx neoplasm NCIT:C3325 -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal cancer pharyngeal cancer Pharyngeal Cancer NCIT:C9466 Pharyngeal Carcinoma DOID:0060119 pharyngeal cancer NCIT:C9466 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma MONDO:patterns/location, DOID:4919 renal pelvis cancer NCIT:C6142 -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer malignant neoplasm of renal pelvis NCIT:C7525 -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, MONDO:patterns/cancer, NCIT:C7525 malignant renal pelvis neoplasm NCIT:C7525 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of small bowel cancer of small bowel Cancer of Small Bowel NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 cancer of small bowel NCIT:C7724 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the small bowel cancer of the small bowel Cancer of the Small Bowel NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 cancer of the small bowel NCIT:C7724 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small bowel cancer small bowel cancer Small Bowel Cancer NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 small bowel cancer NCIT:C7724 @@ -928,24 +529,18 @@ MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 small intestine cancer NCIT:C7724 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma renal cell carcinoma Renal Cell Carcinoma NCIT:C9385 Renal Cell Carcinoma NCIT:C9385 renal cell carcinoma NCIT:C9385 MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasNarrowSynonym clinical infection clinical infection Clinical Infection NCIT:C26726 Infectious Disorder NCIT:C26726 clinical infection NCIT:C26726 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C26729 Connective Tissue Disorder NCIT:C27204 connective tissue disease NCIT:C26729 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen disease collagen disease Collagen Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 collagen disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen vascular disease collagen vascular disease Collagen Vascular Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 collagen vascular disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 connective tissue disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204 inflammatory rheumatism NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal pain disorder musculoskeletal pain disorder Musculoskeletal Pain Disorder NCIT:C27204 Rheumatologic Disorder NCIT:C27204 musculoskeletal pain disorder NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym rheumatism rheumatism Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204, MESH:D012216 rheumatism NCIT:C27204 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer large intestine cancer Large Intestine Cancer NCIT:C2955 Colorectal Carcinoma DOID:5672 large intestine cancer NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC NCIT:C2955 Colorectal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical CRC NCIT:C2955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma OMIM:114500 colon cancer NCIT:C4910 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct adenocarcinoma duct adenocarcinoma Duct Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 duct adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma duct carcinoma Duct Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 duct carcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal carcinoma ductal carcinoma Ductal Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal carcinoma NCIT:C4017 MONDO:0005618 anxiety disorder oio:hasExactSynonym oio:hasBroadSynonym anxiety anxiety Anxiety NCIT:C2878 Anxiety Disorder DOID:2030, NCIT:C2878 anxiety NCIT:C2878 -MONDO:0005627 head and neck cancer oio:hasExactSynonym oio:hasBroadSynonym head and neck neoplasm head and neck neoplasm Head and Neck Neoplasm NCIT:C3077 Head and Neck Neoplasm DOID:11934, MTH:NOCODE head and neck neoplasm NCIT:C3077 -MONDO:0005634 acute hemorrhagic conjunctivitis oio:hasExactSynonym oio:hasRelatedSynonym viral conjunctivitis viral conjunctivitis Viral Conjunctivitis NCIT:C34509 Viral Conjunctivitis DOID:11227 viral conjunctivitis NCIT:C34509 MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis acute appendicitis Acute Appendicitis NCIT:C35145 Appendicitis DOID:8337 acute appendicitis NCIT:C35145 MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy NCIT:C26769 Cranial Nerve VII Palsy NCIT:C26769 facial palsy NCIT:C26769 MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym bird-breeder's lung bird-breeder's lung Bird-Breeder's Lung NCIT:C34425 Bird Fancier's Lung NCIT:C34425 bird-breeder's lung NCIT:C34425 @@ -958,27 +553,12 @@ MONDO:0005758 eunuchism oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotro MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis NCIT:C128360 Lymphatic Filariasis NORD:1082 Elephantiasis NCIT:C128360 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis elephantiasis Elephantiasis NCIT:C128360 Lymphatic Filariasis NCIT:C128360, GARD:0003321 elephantiasis NCIT:C128360 MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemorrhagic fever with renal syndrome hemorrhagic fever with renal syndrome Hemorrhagic Fever with Renal Syndrome NCIT:C84753 Hemorrhagic Fever with Renal Syndrome DOID:11266 hemorrhagic fever with renal syndrome NCIT:C84753 -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym islet cell tumor islet cell tumor Islet Cell Tumor NCIT:C27720 Pancreatic Neuroendocrine Tumor DOID:1799 islet cell tumor NCIT:C27720 -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma DOID:1799, NCIT:C3770 malignant pancreatic endocrine tumor NCIT:C3770 MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym Weil disease Weil disease Weil Disease NCIT:C84825 Leptospirosis GARD:0007881 Weil disease NCIT:C84825 MONDO:0005827 lipoatrophic diabetes oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes mellitus lipoatrophic diabetes mellitus Lipoatrophic Diabetes Mellitus NCIT:C34537 Lipoatrophic Diabetes Mellitus MESH:D003923 lipoatrophic diabetes mellitus NCIT:C34537 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasRelatedSynonym adenopathy adenopathy Adenopathy NCIT:C50764 Lymphadenopathy DOID:75 adenopathy NCIT:C50764 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasNarrowSynonym lymphadenopathy lymphadenopathy Lymphadenopathy NCIT:C50764 Lymphadenopathy NCIT:C50764 lymphadenopathy NCIT:C50764 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary Nonpolyposis Colorectal Cancer NCIT:C120083 Hereditary Nonpolyposis Colorectal Cancer Syndrome DOID:3883 hereditary nonpolyposis colorectal cancer NCIT:C120083 -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym male reproductive system neoplasm male reproductive system neoplasm Male Reproductive System Neoplasm NCIT:C3054 Male Reproductive System Neoplasm DOID:3856 male reproductive system neoplasm NCIT:C3054 -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of male reproductive system tumor of male reproductive system Tumor of Male Reproductive System NCIT:C3054 Male Reproductive System Neoplasm DOID:3856, NCIT:C3054 tumor of male reproductive system NCIT:C3054 -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym mediastinal tumor mediastinal tumor Mediastinal Tumor NCIT:C3221 Mediastinal Neoplasm DOID:5559, NCIT:C3221 mediastinal tumor NCIT:C3221 -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of mediastinum tumor of mediastinum Tumor of Mediastinum NCIT:C3221 Mediastinal Neoplasm DOID:5559 tumor of mediastinum NCIT:C3221 -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed neoplasm mixed neoplasm Mixed Neoplasm NCIT:C6930 Mixed Neoplasm DOID:154 mixed neoplasm NCIT:C6930 -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed tumor mixed tumor Mixed Tumor NCIT:C6930 Mixed Neoplasm DOID:154, NCIT:C6930 mixed tumor NCIT:C6930 -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym nervous system neoplasm nervous system neoplasm Nervous System Neoplasm NCIT:C3268 Nervous System Neoplasm DOID:3093 nervous system neoplasm NCIT:C3268 -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the nervous system tumor of the nervous system Tumor of the Nervous System NCIT:C3268 Nervous System Neoplasm DOID:3093, NCIT:C3268 tumor of the nervous system NCIT:C3268 MONDO:0005886 oral candidiasis oio:hasExactSynonym oio:hasBroadSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis DOID:14262, NCIT:C28137 thrush NCIT:C28137 -MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal neoplasm retroperitoneal neoplasm Retroperitoneal Neoplasm NCIT:C3357 Retroperitoneal Neoplasm NCIT:C3357, DOID:5875 retroperitoneal neoplasm NCIT:C3357 -MONDO:0005965 spinal stenosis oio:hasExactSynonym oio:hasNarrowSynonym lumbar spinal stenosis lumbar spinal stenosis Lumbar Spinal Stenosis NCIT:C177445 Lumbar Spinal Stenosis DOID:6725 lumbar spinal stenosis NCIT:C177445 -MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic Neoplasm NCIT:C3383 Splenic Neoplasm DOID:672, NCIT:C3383 splenic neoplasm NCIT:C3383 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection whipworm infection Whipworm Infection NCIT:C128399 Trichuriasis GARD:0010720 whipworm infection NCIT:C128399 -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C61574 endometrial cancer NCIT:C7558 MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever Venezuelan equine fever Venezuelan Equine Fever NCIT:C35121 Venezuelan Equine Fever DOID:9584, ICD9CM:066.2 Venezuelan equine fever NCIT:C35121 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma NCIT:C3781 Verrucous Carcinoma DOID:3737 warty carcinoma NCIT:C3781 MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal Cancer NCIT:C3491 Cecum Carcinoma NCIT:C3491, DOID:1519 cecal cancer NCIT:C3491 @@ -1005,13 +585,8 @@ MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym oio:hasRelated MONDO:0006270 lobular breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast lobular carcinoma in situ breast lobular carcinoma in situ Breast Lobular Carcinoma In Situ NCIT:C4018 Breast Lobular Carcinoma In Situ ONCOTREE:LCIS breast lobular carcinoma in situ NCIT:C4018 MONDO:0006271 low grade central osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade central osteosarcoma low-grade central osteosarcoma Low-grade central osteosarcoma NCIT:C6474 Low Grade Central Osteosarcoma ONCOTREE:LGCOS low-grade central osteosarcoma NCIT:C6474 MONDO:0006272 low grade fibromyxoid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade fibromyxoid sarcoma low-grade fibromyxoid sarcoma Low-grade fibromyxoid sarcoma NCIT:C45202 Low Grade Fibromyxoid Sarcoma ONCOTREE:LGFMS low-grade fibromyxoid sarcoma NCIT:C45202 -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis NORD:1381 Lymphangioleiomyomatosis NCIT:C3725 -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis DOID:3319 lymphangioleiomyomatosis NCIT:C3725 -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym oio:hasRelatedSynonym lymphangiosarcoma of Stewart and Treves lymphangiosarcoma of Stewart and Treves Lymphangiosarcoma of Stewart and Treves NCIT:C4490 Skin Lymphangiosarcoma NCIT:C4490, DOID:2689 lymphangiosarcoma of Stewart and Treves NCIT:C4490 MONDO:0006284 major salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym major salivary gland cancer major salivary gland cancer Major Salivary Gland Cancer NCIT:C5907 Major Salivary Gland Carcinoma NCIT:C5907 major salivary gland cancer NCIT:C5907 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym malignant mesothelial neoplasm malignant mesothelial neoplasm Malignant Mesothelial Neoplasm NCIT:C4456 Malignant Mesothelioma NCIT:C4456 malignant mesothelial neoplasm NCIT:C4456 -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of pleura neoplasm of pleura Neoplasm of Pleura NCIT:C3332 Pleural Neoplasm DOID:5158 neoplasm of pleura NCIT:C3332 -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym pleural tumor pleural tumor Pleural Tumor NCIT:C3332 Pleural Neoplasm NCIT:C3332, DOID:5158 pleural tumor NCIT:C3332 MONDO:0006297 maxillary sinus adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of maxillary sinus adenoid cystic carcinoma of maxillary sinus Adenoid Cystic Carcinoma of Maxillary Sinus NCIT:C6239 Maxillary Sinus Adenoid Cystic Carcinoma DOID:7198, NCIT:C6239 adenoid cystic carcinoma of maxillary sinus NCIT:C6239 MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of mediastinum malignant germ cell neoplasm of mediastinum Malignant Germ Cell Neoplasm of Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 malignant germ cell neoplasm of mediastinum NCIT:C6446 MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of the mediastinum malignant germ cell neoplasm of the mediastinum Malignant Germ Cell Neoplasm of the Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 malignant germ cell neoplasm of the mediastinum NCIT:C6446 @@ -1028,13 +603,8 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oi MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym myeloproliferative/myelodysplastic syndromes myeloproliferative/myelodysplastic syndromes Myeloproliferative/Myelodysplastic Syndromes NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm DOID:4972, NCIT:C27262 myeloproliferative/myelodysplastic syndromes NCIT:C27262 MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS-MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 MDS-MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS/MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 MDS/MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006312 myofibroma oio:hasExactSynonym oio:hasRelatedSynonym infantile hemangiopericytoma infantile hemangiopericytoma Infantile Hemangiopericytoma NCIT:C3742 Myofibromatosis NCIT:C7052 infantile hemangiopericytoma NCIT:C3742 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 Esthesioneuroepithelioma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 esthesioneuroblastoma NCIT:C3789 -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym ovarian transitional cell neoplasm ovarian transitional cell neoplasm Ovarian Transitional Cell Neoplasm NCIT:C3872 Ovarian Brenner Tumor DOID:4000 ovarian transitional cell neoplasm NCIT:C3872 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C27241 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C3011 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C3011 MONDO:0006345 palmar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren's contracture Dupuytren's contracture Dupuytren's Contracture NCIT:C3469 Palmar Fibromatosis NCIT:C3469 Dupuytren's contracture NCIT:C3469 MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of accessory sinus Schneiderian papilloma of accessory sinus Schneiderian Papilloma of Accessory Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 Schneiderian papilloma of accessory sinus NCIT:C6835 MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of paranasal sinus Schneiderian papilloma of paranasal sinus Schneiderian Papilloma of Paranasal Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 Schneiderian papilloma of paranasal sinus NCIT:C6835 @@ -1059,84 +629,40 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym ang MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the placenta angioma of the placenta Angioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 angioma of the placenta NCIT:C4868 MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the placenta hemangioma of the placenta Hemangioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 hemangioma of the placenta NCIT:C4868 MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym placental angioma placental angioma Placental Angioma NCIT:C4868 Placental Hemangioma NCIT:C4868 placental angioma NCIT:C4868 -MONDO:0006427 spindle cell melanoma oio:hasExactSynonym oio:hasRelatedSynonym desmoplastic melanoma desmoplastic melanoma Desmoplastic Melanoma NCIT:C37257 Desmoplastic Melanoma DOID:3162 desmoplastic melanoma NCIT:C37257 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell neoplasm transitional cell neoplasm Transitional Cell Neoplasm NCIT:C6783 Transitional Cell Neoplasm DOID:2671 transitional cell neoplasm NCIT:C6783 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor transitional cell tumor Transitional Cell Tumor NCIT:C6783 Transitional Cell Neoplasm NCIT:C6783, DOID:2671 transitional cell tumor NCIT:C6783 MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma NCIT:C8993 ureter cancer NCIT:C8993 -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym choroidal melanoma choroidal melanoma Choroidal Melanoma NCIT:C4561 Choroid Melanoma Orphanet:39044 choroidal melanoma NCIT:C4561 -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasNarrowSynonym iris melanoma iris melanoma Iris Melanoma NCIT:C9088 Iris Melanoma Orphanet:39044 iris melanoma NCIT:C9088 -MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor malignant vaginal mixed epithelial and mesenchymal tumor Malignant Vaginal Mixed Epithelial and Mesenchymal Tumor NCIT:C40276 Malignant Vaginal Mixed Epithelial and Mesenchymal Neoplasm DOID:136 malignant vaginal mixed epithelial and mesenchymal tumor NCIT:C40276 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor Vaginal Malignant Mixed Mesodermal (Mullerian) Tumor NCIT:C40278 Vaginal Carcinosarcoma NCIT:C40278 vaginal malignant mixed mesodermal (Mullerian) tumor NCIT:C40278 -MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary cystadenoma lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 +MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma angioma Angioma NCIT:C3085 Hemangioma NCIT:C3085 angioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym benign angioma benign angioma Benign Angioma NCIT:C3085 Hemangioma NCIT:C3085 benign angioma NCIT:C3085 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute lung injury acute lung injury Acute Lung Injury NCIT:C155766 Acute Lung Injury GARD:0005698 acute lung injury NCIT:C155766 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALI NCIT:C155766 Acute Lung Injury http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005698 ALI NCIT:C155766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis DOID:2352 hemochromatosis NCIT:C82892 MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm NCIT:C4005 malignant neoplasm NCIT:C4005 -MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C9305 Malignant Neoplasm NCIT:C4005 malignant neoplasm NCIT:C9305 -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of rectum carcinoma of rectum Carcinoma of Rectum NCIT:C9382 Rectal Carcinoma DOID:1993 carcinoma of rectum NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of the rectum carcinoma of the rectum Carcinoma of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382, DOID:1993 carcinoma of the rectum NCIT:C9382 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma NCIT:C9325 adrenal cortex cancer NCIT:C9325 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant adrenocortical tumor malignant adrenocortical tumor Malignant Adrenocortical Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm NCIT:C9327, DOID:660 malignant adrenocortical tumor NCIT:C9327 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of adrenal cortex malignant neoplasm of adrenal cortex Malignant Neoplasm of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 malignant neoplasm of adrenal cortex NCIT:C9327 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of adrenal cortex malignant tumor of adrenal cortex Malignant Tumor of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 malignant tumor of adrenal cortex NCIT:C9327 -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis Orphanet:280886 iridocyclitis NCIT:C34736 -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm choroid neoplasm Choroid Neoplasm NCIT:C2949 Choroid Neoplasm DOID:12759 choroid neoplasm NCIT:C2949 -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal Tumor NCIT:C2949 Choroid Neoplasm NCIT:C2949, DOID:12759 choroidal tumor NCIT:C2949 MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy oio:hasExactSynonym oio:hasRelatedSynonym chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyneuritis Chronic Inflammatory Demyelinating Polyneuritis NCIT:C84636 Chronic Inflammatory Demyelinating Polyneuropathy DOID:2536 chronic inflammatory demyelinating polyneuritis NCIT:C84636 -MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum neoplasm of the duodenum Neoplasm of the Duodenum NCIT:C2995 Duodenal Neoplasm NCIT:C2995, DOID:1737 neoplasm of the duodenum NCIT:C2995 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma hidradenoma Hidradenoma NCIT:C7563 Hidradenoma MESH:D018250, GARD:0005726 hidradenoma NCIT:C7563 -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ cystadenoma NCIT:C2972 -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis NCIT:C35110 pars planitis NCIT:C34903 MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis NCIT:C35110 pars planitis NCIT:C35110 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasRelatedSynonym joint disorder joint disorder Joint Disorder NCIT:C35760 Arthropathy joint disorder NCIT:C35760 -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism NCIT:C34752 hypogonadotropic hypogonadism NCIT:C113347 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome NCIT:C34752 hypogonadotropic hypogonadism NCIT:C34752 -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome Vertebral artery syndrome Vertebral Artery Syndrome NCIT:C35123 Vertebral Artery Syndrome GARD:0009263 Vertebral artery syndrome NCIT:C35123 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome Lateral Medullary Syndrome NCIT:C84807 Lateral Medullary Syndrome GARD:0009263 Lateral medullary syndrome NCIT:C84807 MONDO:0006840 lymphangiectasis oio:hasExactSynonym oio:hasRelatedSynonym lymphangiectasia lymphangiectasia Lymphangiectasia NCIT:C97087 Lymphangiectasia GARD:0006933 lymphangiectasia NCIT:C97087 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma NCIT:C35815 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma NCIT:C35815 -MONDO:0006921 Actinomycetales infectious disease oio:hasExactSynonym oio:hasRelatedSynonym actinomycosis actinomycosis Actinomycosis NCIT:C34350 Actinomycosis actinomycosis NCIT:C34350 MONDO:0006926 haemophilus infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Hemophilus infection Hemophilus infection Hemophilus Infection NCIT:C34654 Hemophilus Infection MESH:D006192 Hemophilus infection NCIT:C34654 -MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor Malignant Sebaceous Tumor NCIT:C8409 Malignant Sebaceous Neoplasm DOID:4840, NCIT:C8409 malignant sebaceous tumor NCIT:C8409 -MONDO:0006976 somatostatinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma GARD:0004900 malignant islet cell tumor NCIT:C3770 -MONDO:0006998 tonsil cancer oio:hasExactSynonym oio:hasBroadSynonym cancer of tonsil cancer of tonsil Cancer of Tonsil NCIT:C4825 Tonsillar Carcinoma MONDO:patterns/cancer cancer of tonsil NCIT:C4825 MONDO:0007000 Treponema infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Treponemal infection Treponemal infection Treponemal Infection NCIT:C85197 Treponemal Infection MESH:D014211 Treponemal infection NCIT:C85197 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome Eagle-Barrett Syndrome NCIT:C85033 Prune Belly Syndrome OMIM:100100 eagle-Barrett syndrome NCIT:C85033 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve VI palsy cranial nerve VI palsy Cranial Nerve VI Palsy NCIT:C27592 Cranial Nerve VI Palsy GARD:0009482 cranial nerve VI palsy NCIT:C27592 -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder VIth nerve disorder VIth Nerve Disorder NCIT:C27593 Abducens Nerve Disorder NCIT:C27593, DOID:10865 VIth nerve disorder NCIT:C27593 -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease abducens nerve disease Abducens Nerve Disease NCIT:C27593 Abducens Nerve Disorder DOID:10865 abducens nerve disease NCIT:C27593 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 NCIT:C3274 acoustic neurofibromatosis NCIT:C3274 MONDO:0007042 Saethre-Chotzen syndrome oio:hasExactSynonym oio:hasRelatedSynonym acrocephalosyndactyly type III acrocephalosyndactyly type III Acrocephalosyndactyly Type III NCIT:C75034 Type III Acrocephalosyndactyly DOID:14768 acrocephalosyndactyly type III NCIT:C75034 MONDO:0007043 Pfeiffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Noack syndrome Noack syndrome Noack Syndrome NCIT:C99100 Type V Acrocephalosyndactyly OMIM:101600, Wikipedia:Acrocephalosyndactylia Noack syndrome NCIT:C99100 MONDO:0007044 Acrodysostosis 1 with or without hormone resistance oio:hasExactSynonym oio:hasRelatedSynonym ACRDYS1 NCIT:C136464 Acrodysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:101800, MONDO:Lexical ACRDYS1 NCIT:C136464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 NCIT:C168756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer anal canal cancer Anal Canal Cancer NCIT:C7489 Anal Canal Carcinoma NCIT:C7489 anal canal cancer NCIT:C7489 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 cloacogenic carcinoma NCIT:C8255 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic Carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 cloacogenic carcinoma NCIT:C8255 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 NCIT:C176911 Diamond-Blackfan Anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 NCIT:C176911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar Syndrome NCIT:C85056 Scimitar Syndrome DOID:4297 scimitar syndrome NCIT:C85056 MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym STL1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:108300 STL1 NCIT:C168733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's disease Behcet's disease Behcet's Disease NCIT:C34416 Behcet Syndrome DOID:13241 Behcet's disease NCIT:C34416 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma NCIT:C122660 Hardcastle's Syndrome MONDO:Lexical, OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma NCIT:C122660 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease Lenegre-Lev Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia OMIM:113900 Lenegre-Lev disease NCIT:C126651 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD NCIT:C4345 Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 CMPD NCIT:C4345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor breast tumor Breast Tumor NCIT:C2910 Breast Neoplasm NCIT:C2910, DOID:1612 breast tumor NCIT:C2910 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma NCIT:C3728 Hepatoblastoma OMIM:114550 hepatoblastoma NCIT:C3728 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C7927, DOID:686 liver and intrahepatic bile duct carcinoma NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma OMIM:114550 liver cancer NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma adult hepatoma Adult Hepatoma NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956, DOID:684 adult hepatoma NCIT:C7956 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma adult primary hepatocellular carcinoma Adult Primary Hepatocellular Carcinoma NCIT:C7956 Adult Hepatocellular Carcinoma DOID:684 adult primary hepatocellular carcinoma NCIT:C7956 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte Adhesion Deficiency NCIT:C27874 Leukocyte Adhesion Deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency NCIT:C27874 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 Immunodeficiency NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 OMIM:116920 Lfa1 immunodeficiency NCIT:C4689 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 LAD1 NCIT:C4689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of Aorta NCIT:C84567 Aortic Coarctation OMIM:120000 coarctation of aorta NCIT:C84567 MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome Papillorenal Syndrome NCIT:C123230 Renal Coloboma Syndrome MONDO:Lexical, OMIM:120330 PAPILLORENAL syndrome NCIT:C123230 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LYNCH syndrome I LYNCH syndrome I Lynch Syndrome I NCIT:C6725 Lynch 1 Syndrome OMIM:120435 LYNCH syndrome I NCIT:C6725 -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 Lynch Syndrome 2 NCIT:C6726 Lynch 2 Syndrome OMIM:120435 Lynch syndrome 2 NCIT:C6726 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 9 arthrogryposis, distal, type 9 Arthrogryposis, Distal, Type 9 NCIT:C129865 Congenital Contractural Arachnodactyly OMIM:121050, MONDO:Lexical arthrogryposis, distal, type 9 NCIT:C129865 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic Diabetes Insipidus NCIT:C84933 Neurogenic Diabetes Insipidus NCIT:C84933 neurogenic diabetes insipidus NCIT:C84933 MONDO:0007452 maturity-onset diabetes of the young type 1 oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young, type 1 maturity-onset diabetes of the young, type 1 Maturity-Onset Diabetes of the Young, Type 1 NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes OMIM:125850, MONDO:Lexical, GARD:0003418 maturity-onset diabetes of the young, type 1 NCIT:C129744 @@ -1144,19 +670,15 @@ MONDO:0007453 maturity-onset diabetes of the young type 2 oio:hasExactSynonym oi MONDO:0007481 Leri-Weill dyschondrosteosis oio:hasExactSynonym oio:hasRelatedSynonym dyschondrosteosis dyschondrosteosis Dyschondrosteosis NCIT:C126560 Leri-Weill Dyschondrosteosis GARD:0003224, OMIM:127300 dyschondrosteosis NCIT:C126560 MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym dyschromatosis symmetrica hereditaria 1 dyschromatosis symmetrica hereditaria 1 Dyschromatosis Symmetrica Hereditaria 1 NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 dyschromatosis symmetrica hereditaria 1 NCIT:C118435 MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym symmetric dyschromatosis of the extremities symmetric dyschromatosis of the extremities Symmetric Dyschromatosis of the Extremities NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 symmetric dyschromatosis of the extremities NCIT:C118435 -MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic Torsion Dystonia NCIT:C34564 Idiopathic Torsion Dystonia Orphanet:256 idiopathic torsion dystonia NCIT:C34564 MONDO:0007496 dystonia 12 oio:hasExactSynonym oio:hasRelatedSynonym rapid-onset dystonia-parkinsonism rapid-onset dystonia-parkinsonism Rapid-Onset Dystonia-Parkinsonism NCIT:C157577 Dystonia 12 Orphanet:71517 rapid-onset dystonia-parkinsonism NCIT:C157577 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 NCIT:C3225 multiple endocrine adenomatosis NCIT:C3225 -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia NCIT:C3225 multiple endocrine adenomatosis NCIT:C6432 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign hair follicle neoplasm benign hair follicle neoplasm Benign Hair Follicle Neoplasm NCIT:C7368 Pilomatricoma NCIT:C7368 benign hair follicle neoplasm NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatricoma benign pilomatricoma Benign Pilomatricoma NCIT:C7368 Pilomatricoma DOID:5374 benign pilomatricoma NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatrixoma benign pilomatrixoma Benign Pilomatrixoma NCIT:C7368 Pilomatricoma NCIT:C7368 benign pilomatrixoma NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying Epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 calcifying epithelioma of Malherbe NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 calcifying epithelioma of Malherbe NCIT:C7368 -MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of abdominal esophagus malignant tumor of abdominal esophagus Malignant Tumor of Abdominal Esophagus NCIT:C4764 Malignant Neoplasm of the Abdominal Esophagus NCIT:C4764, DOID:5041 malignant tumor of abdominal esophagus NCIT:C4764 MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 NCIT:C18252 EXT2 Gene http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 EXT2 NCIT:C18252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 NCIT:C175048 Exudative Vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 EVR1 NCIT:C175048 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity retinopathy of prematurity Retinopathy of Prematurity NCIT:C34982 Retinopathy of Prematurity OMIM:133780 retinopathy of prematurity NCIT:C34982 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva NCIT:C3040 MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS NCIT:C175241 Floating-Harbor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 FLHS NCIT:C175241 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p12.1 deletion syndrome, 520-KB chromosome 16p12.1 deletion syndrome, 520-KB Chromosome 16p12.1 Deletion Syndrome, 520-KB NCIT:C129875 Chromosome 16p12.1 Deletion Syndrome OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-KB NCIT:C129875 @@ -1164,33 +686,19 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 frontonasal dysplasia 1 Frontonasal Dysplasia 1 NCIT:C129028 Frontonasal Dysplasia OMIM:136760, MONDO:Lexical frontonasal dysplasia 1 NCIT:C129028 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 NCIT:C129028 Frontonasal Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical FND1 NCIT:C129028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007644 IgAD1 oio:hasExactSynonym oio:hasRelatedSynonym IMMUNOGLOBULIN A deficiency 1 IMMUNOGLOBULIN A deficiency 1 Immunoglobulin A Deficiency 1 NCIT:C123434 Immunoglobulin A Deficiency 1 MONDO:Lexical, OMIM:137100 IMMUNOGLOBULIN A deficiency 1 NCIT:C123434 -MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym GTS NCIT:C118370 Growing Teratoma Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137580, Orphanet:856, MONDO:Lexical GTS NCIT:C118370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome NCIT:C35078 Tourette Syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome NCIT:C35078 -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis NCIT:C27496 Glomangiomatosis Orphanet:83454 glomangiomatosis NCIT:C27496 MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre Syndrome NCIT:C123815 Myhre Syndrome OMIM:139210 MYHRE syndrome NCIT:C123815 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188 autoimmune thyroiditis NCIT:C27191 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis NCIT:C27191 MONDO:0007743 attention deficit-hyperactivity disorder oio:hasExactSynonym oio:hasRelatedSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146800 IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency NCIT:C126342 hyper-IgE recurrent infection syndrome NCIT:C126342 -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism NCIT:C4375 nesidioblastosis NCIT:C131425 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis NCIT:C4375 nesidioblastosis NCIT:C4375 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia laryngomalacia Laryngomalacia NCIT:C98971 Laryngomalacia OMIM:150280 laryngomalacia NCIT:C98971 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia monocytic leukemia Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C4861 monocytic leukemia NCIT:C4861 MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym oio:hasRelatedSynonym lichen SCLEROSUS ET ATROPHICUS lichen SCLEROSUS ET ATROPHICUS Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus OMIM:151590 lichen SCLEROSUS ET ATROPHICUS NCIT:C26817 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Launois-Bensaude syndrome Launois-Bensaude syndrome Launois-Bensaude Syndrome NCIT:C3193 Lipomatosis GARD:0006957 Launois-Bensaude syndrome NCIT:C3193 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Madelung disease Madelung Disease NCIT:C3193 Lipomatosis Orphanet:2398 Madelung disease NCIT:C3193 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Madelung's disease Madelung's disease Madelung's Disease NCIT:C3193 Lipomatosis GARD:0006957 Madelung's disease NCIT:C3193 -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome OMIM:153480 Ruvalcaba-Myhre-Smith syndrome NCIT:C3076 MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 4 46,XY SEX reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 OMIM:154230 46,XY SEX reversal 4 NCIT:C132270 MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym SRXY4 NCIT:C132270 46,XY Sex Reversal 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154230 SRXY4 NCIT:C132270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria Pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 urticaria pigmentosa NCIT:C3433 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 urticaria pigmentosa NCIT:C3433 MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym MAST cell disease MAST cell disease Mast Cell Disease NCIT:C84269 Mastocytosis OMIM:154800 MAST cell disease NCIT:C84269 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified NCIT:C5398, DOID:0050902 CNS PNET NCIT:C5398 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 CPNET NCIT:C5398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 medulloblastoma with extensive nodularity NCIT:C5407 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0007962 megalodactyly oio:hasExactSynonym oio:hasRelatedSynonym macrodactyly macrodactyly Macrodactyly NCIT:C48900 Macrodactyly OMIM:155500 macrodactyly NCIT:C48900 MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 1 mental retardation, autosomal dominant 1 Mental Retardation, Autosomal Dominant 1 NCIT:C141424 Mental Retardation, Autosomal Dominant 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:156200 mental retardation, autosomal dominant 1 NCIT:C141424 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF NCIT:C188216 Cardiospondylocarpofacial Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 CSCF NCIT:C188216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1198,82 +706,59 @@ MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 Bethlem Myopathy 1 NCIT:C126688 Bethlem Myopathy 1 OMIM:158810, MONDO:Lexical Bethlem myopathy 1 NCIT:C126688 MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym BTHLM1 NCIT:C126688 Bethlem Myopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158810 BTHLM1 NCIT:C126688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 NCIT:C172704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral Muscular Dystrophy NCIT:C84704 Facioscapulohumeral Muscular Dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy NCIT:C84704 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 FSHD2 NCIT:C172705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATXPC NCIT:C176909 Ataxia-Pancytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159550 ATXPC NCIT:C176909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JPM NCIT:C114358 Juvenile Polymyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 JPM NCIT:C114358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JDM NCIT:C27576 Childhood Dermatomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 JDM NCIT:C27576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis myositis Myositis NCIT:C27578 Myositis OMIM:160750 myositis NCIT:C27578 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 dystrophia myotonica 1 Dystrophia Myotonica 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900 dystrophia myotonica 1 NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 myotonic dystrophy 1 Myotonic Dystrophy 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900, MONDO:Lexical myotonic dystrophy 1 NCIT:C84679 MONDO:0008062 narcolepsy 1 oio:hasExactSynonym oio:hasRelatedSynonym cataplexy cataplexy Cataplexy NCIT:C84618 Cataplexy OMIM:161400 cataplexy NCIT:C84618 MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 3 nemaline myopathy 3 Nemaline Myopathy 3 NCIT:C129870 Nemaline Myopathy 3 NCIT:C129870, OMIM:161800, MONDO:Lexical nemaline myopathy 3 NCIT:C129870 MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NEM3 NCIT:C129870 Nemaline Myopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:161800, DOID:0110927, MONDO:Lexical NEM3 NCIT:C129870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Schwannomatosis neurinoma NCIT:C3269 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym oio:hasRelatedSynonym CLN4B NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:162350, MONDO:Lexical CLN4B NCIT:C128116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic Neutropenia NCIT:C3820 Cyclic Neutropenia OMIM:162800 cyclic neutropenia NCIT:C3820 MONDO:0008095 nevus anemicus oio:hasExactSynonym oio:hasRelatedSynonym NEVUS anemicus NEVUS anemicus Nevus Anemicus NCIT:C3943 Nevus Anemicus OMIM:163050 NEVUS anemicus NCIT:C3943 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome Noonan Syndrome NCIT:C34854 Noonan Syndrome OMIM:163950 Noonan syndrome NCIT:C34854 MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008145 Ollier disease oio:hasExactSynonym oio:hasRelatedSynonym enchondromatosis enchondromatosis Enchondromatosis NCIT:C3008 Enchondromatosis GARD:0007251 enchondromatosis NCIT:C3008 -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym ovarian neoplasm ovarian neoplasm Ovarian Neoplasm NCIT:C4984 Ovarian Neoplasm DOID:2394, MTH:NOCODE ovarian neoplasm NCIT:C4984 -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm DOID:2394, NCIT:C4984 tumor of the ovary NCIT:C4984 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget disease, extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 Paget disease, EXTRAMAMMARY NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget Disease, Extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 Paget disease, EXTRAMAMMARY NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym cutaneous Paget's disease cutaneous Paget's disease Cutaneous Paget's Disease NCIT:C3302 Extramammary Paget Disease NCIT:C3302 cutaneous Paget's disease NCIT:C3302 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 OMIM:167320, MONDO:Lexical inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 NCIT:C122663 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym IBMPFD1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167320 IBMPFD1 NCIT:C122663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HP Hp HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita OMIM:168300 paramyotonia congenita of VON Eulenburg NCIT:C122790 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym PMC NCIT:C122790 Paramyotonia Congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168300 PMC NCIT:C122790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign Familial Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 benign familial pemphigus NCIT:C82865 MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym familial benign pemphigus familial benign pemphigus Familial Benign Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 familial benign pemphigus NCIT:C82865 MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS NCIT:C84559 Long QT Syndrome 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS NCIT:C84559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease Pick's disease Pick's Disease NCIT:C85008 Pick's Disease DOID:11870 Pick's disease NCIT:C85008 -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous Dysplasia of Bone NCIT:C34609 Fibrous Dysplasia NCIT:C34609 fibrous dysplasia of bone NCIT:C34609 MONDO:0008277 stomach polyp oio:hasExactSynonym oio:hasRelatedSynonym gastric polyposis gastric polyposis Gastric Polyposis NCIT:C3954 Gastric Polyp NCIT:C3954 gastric polyposis NCIT:C3954 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Greig syndrome Greig syndrome Greig Syndrome NCIT:C35255 Greig Syndrome GARD:0006550 Greig syndrome NCIT:C35255 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP NCIT:C35806 Acute Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP NCIT:C35806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, acute intermittent porphyria, acute intermittent Porphyria, Acute Intermittent NCIT:C84536 Acute Intermittent Porphyria OMIM:176000, MONDO:Lexical porphyria, acute intermittent NCIT:C84536 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria NCIT:C34951 Progeria OMIM:176670, Orphanet:740 progeria NCIT:C34951 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasNarrowSynonym hereditary prostate cancer hereditary prostate cancer Hereditary Prostate Cancer NCIT:C103817 Hereditary Prostate Carcinoma DOID:10283 hereditary prostate cancer NCIT:C103817 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym prostate neoplasm prostate neoplasm Prostate Neoplasm NCIT:C3343 Prostate Neoplasm DOID:10283 prostate neoplasm NCIT:C3343 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the prostate tumor of the prostate Tumor of the Prostate NCIT:C3343 Prostate Neoplasm DOID:10283, NCIT:C3343 tumor of the prostate NCIT:C3343 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym erythropoietic protoporphyria erythropoietic protoporphyria Erythropoietic Protoporphyria NCIT:C84698 Erythropoietic Protoporphyria NCIT:C84698 erythropoietic protoporphyria NCIT:C84698 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, Erythropoietic NCIT:C84698 Erythropoietic Protoporphyria OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic NCIT:C84698 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym EPP NCIT:C84698 Erythropoietic Protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004527, OMIM:177000, MONDO:Lexical EPP NCIT:C84698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRelatedSynonym pseudo-VON WILLEBRAND disease pseudo-VON WILLEBRAND disease Pseudo-von Willebrand Disease NCIT:C131681 Platelet-Type von Willebrand Disease OMIM:177820 pseudo-VON WILLEBRAND disease NCIT:C131681 MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg Craniosynostosis Syndrome NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome OMIM:182212, MONDO:Lexical Shprintzen-Goldberg craniosynostosis syndrome NCIT:C124840 -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat Cell Carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 oat cell carcinoma NCIT:C3915 -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat cell carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 oat cell carcinoma NCIT:C3915 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC NCIT:C4917 Lung Small Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 SCLC NCIT:C4917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym oio:hasRelatedSynonym Strumpell disease Strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A OMIM:182600 Strumpell disease NCIT:C142893 MONDO:0008438 hereditary spastic paraplegia 4 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 4 spastic paraplegia 4 Spastic Paraplegia 4 NCIT:C129981 Spastic Paraplegia 4 GARD:0004925 spastic paraplegia 4 NCIT:C129981 -MONDO:0008449 spina bifida oio:hasExactSynonym oio:hasRelatedSynonym NTD NCIT:C84923 Neural Tube Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182940, MONDO:Lexical NTD NCIT:C84923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym HMN1 NCIT:C132826 Distal Hereditary Motor Neuronopathy Type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:182960 HMN1 NCIT:C132826 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 Wadia-swami syndrome NCIT:C148315 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 2 olivopontocerebellar atrophy 2 Olivopontocerebellar Atrophy 2 NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 olivopontocerebellar atrophy 2 NCIT:C148315 -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym ectrodactyly ectrodactyly Ectrodactyly NCIT:C75000 Ectrodactyly OMIM:183600 ectrodactyly NCIT:C75000 MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 1 split-hand/foot malformation 1 Split-Hand/Foot Malformation 1 NCIT:C75045 Split-Hand/Foot Malformation Type 1 MONDO:Lexical, OMIM:183600 split-hand/foot malformation 1 NCIT:C75045 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person Syndrome NCIT:C85170 Stiff Person Syndrome OMIM:184850 STIFF-PERSON syndrome NCIT:C85170 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff Skin Syndrome NCIT:C118636 Stiff Skin Syndrome OMIM:184900 STIFF skin syndrome NCIT:C118636 -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia Rheumatica NCIT:C85018 Polymyalgia Rheumatica OMIM:187360 polymyalgia rheumatica NCIT:C85018 -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric Dysplasia NCIT:C85187 Thanatophoric Dysplasia OMIM:187600 thanatophoric dysplasia NCIT:C85187 +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 MONDO:0008555 thrombocytopenia 2 oio:hasExactSynonym oio:hasRelatedSynonym THC2 NCIT:C129035 Thrombocytopenia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188000, MONDO:Lexical THC2 NCIT:C129035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia Orphanet:3002 immune thrombocytopenia NCIT:C3446 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune Thrombocytopenic Purpura NCIT:C3446 Primary Immune Thrombocytopenia OMIM:188030 immune thrombocytopenic purpura NCIT:C3446 -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction Orphanet:3002 immune thrombocytopenia NCIT:C3991 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome Shprintzen syndrome Shprintzen Syndrome NCIT:C2989 22q11.2 Deletion Syndrome NCIT:C2989 Shprintzen syndrome NCIT:C2989 MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOP syndrome WITKOP syndrome Witkop Syndrome NCIT:C40553 Tooth and Nail Syndrome OMIM:189500 WITKOP syndrome NCIT:C40553 MONDO:0008583 inherited torticollis oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular torticollis congenital muscular torticollis Congenital Muscular Torticollis NCIT:C4811 Fibromatosis Colli GARD:0004908, MESH:C535425 congenital muscular torticollis NCIT:C4811 -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy OMIM:189800 toxemia of pregnancy NCIT:C34943 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 trisomy 21 Trisomy 21 NCIT:C2993 Down Syndrome OMIM:190685, Orphanet:870, NCIT:C2993 trisomy 21 NCIT:C2993 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome trisomy 21 syndrome Trisomy 21 Syndrome NCIT:C2993 Down Syndrome NCIT:C2993, DOID:14250 trisomy 21 syndrome NCIT:C2993 -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberous sclerosis Complex tuberous sclerosis Complex Tuberous Sclerosis Complex NCIT:C3424 Tuberous Sclerosis OMIM:191100 tuberous sclerosis Complex NCIT:C3424 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome OMIM:191900 MUCKLE-Wells syndrome NCIT:C119054 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS NCIT:C119054 Muckle-Wells Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS NCIT:C119054 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices varices Varices NCIT:C35114 Varicose Vein Wikipedia:Varices, DOID:799 varices NCIT:C35114 @@ -1291,7 +776,6 @@ MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficien MONDO:0008736 peroxisome biogenesis disorder 2B oio:hasExactSynonym oio:hasRelatedSynonym PBD2B NCIT:C155751 Peroxisome Biogenesis Disorder 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:202370 PBD2B NCIT:C155751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasRelatedSynonym afibrinogenemia afibrinogenemia Afibrinogenemia NCIT:C98130 Afibrinogenemia GARD:0005761 afibrinogenemia NCIT:C98130 MONDO:0008748 Hermansky-Pudlak syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPS1 NCIT:C150367 Hermansky-Pudlak Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203300, MONDO:Lexical HPS1 NCIT:C150367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency MAT Deficiency NCIT:C123435 Methionine Adenosyltransferase Deficiency OMIM:203750 Mat deficiency NCIT:C123435 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria Alpha-Methylacetoacetic Aciduria NCIT:C98841 Alpha-Methylacetoacetic Aciduria OMIM:203750 ALPHA-methylacetoacetic aciduria NCIT:C98841 MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten Disease NCIT:C61258 Neuronal Ceroid Lipofuscinosis Type 3 OMIM:204200 batten disease NCIT:C61258 MONDO:0008769 neuronal ceroid lipofuscinosis 2 oio:hasExactSynonym oio:hasBroadSynonym late infantile neuronal ceroid lipofuscinosis late infantile neuronal ceroid lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 NCIT:C85864 late infantile neuronal ceroid lipofuscinosis NCIT:C85864 @@ -1305,7 +789,6 @@ MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A NCIT:C176806 Immunodeficiency 27A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical IMD27A NCIT:C176806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS NCIT:C177251 Behr Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 BEHRS NCIT:C177251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger Disease NCIT:C35070 Buerger Disease OMIM:211480 BUERGER disease NCIT:C35070 -MONDO:0008903 lung cancer oio:hasExactSynonym oio:hasRelatedSynonym lung neoplasm lung neoplasm Lung Neoplasm NCIT:C3200 Lung Neoplasm DOID:1324 lung neoplasm NCIT:C3200 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-Acylcarnitine Translocase Deficiency NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency NCIT:C133086 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic primary carnitine deficiency systemic primary carnitine deficiency Systemic Primary Carnitine Deficiency NCIT:C98864 Primary Carnitine Deficiency Orphanet:158 systemic primary carnitine deficiency NCIT:C98864 MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-Lymphedema Syndrome NCIT:C35709 Aagenaes Syndrome OMIM:214900 cholestasis-lymphedema syndrome NCIT:C35709 @@ -1313,7 +796,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphe MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHLS Chls CHLS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214900 CHLS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS1 NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 LCS1 NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia NCIT:C84639 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia NCIT:C84639 MONDO:0009005 complement component C1r/C1s deficiency oio:hasExactSynonym oio:hasRelatedSynonym C1r/C1s deficiency C1r/C1s deficiency C1r/C1s Deficiency NCIT:C119991 C1r/C1s Deficiency OMIM:216950 C1r/C1s deficiency NCIT:C119991 MONDO:0009006 complement component 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C2 deficiency C2 deficiency C2 Deficiency NCIT:C119992 C2 Deficiency OMIM:217000 C2 deficiency NCIT:C119992 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent Mineralocorticoid Excess NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency OMIM:218030 apparent mineralocorticoid EXCESS NCIT:C131083 @@ -1322,7 +804,6 @@ MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTYS NCIT:C148371 Temtamy Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218340 TEMTYS NCIT:C148371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Cushing disease Cushing Disease NCIT:C113210 Cushing Disease GARD:0012867 Cushing disease NCIT:C113210 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing's disease Cushing's disease Cushing's Disease NCIT:C113210 Cushing Disease GARD:0012867 Cushing's disease NCIT:C113210 -MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Corticotropinoma NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor DOID:7004, NCIT:C7462 Corticotropinoma NCIT:C7462 MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Complex IV deficiency Complex IV deficiency Complex IV Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency GARD:0000048 Complex IV deficiency NCIT:C98910 MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym cytochrome C oxidase deficiency cytochrome C oxidase deficiency Cytochrome C Oxidase Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency OMIM:220110 cytochrome C oxidase deficiency NCIT:C98910 MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation Dandy-Walker malformation Dandy-Walker Malformation NCIT:C75012 Dandy-Walker Malformation OMIM:220200 Dandy-Walker malformation NCIT:C75012 @@ -1341,25 +822,19 @@ MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AGS1 NCIT:C165501 Aicardi-Goutieres Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:225750 AGS1 NCIT:C165501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009176 epidermodysplasia verruciformis oio:hasExactSynonym oio:hasRelatedSynonym EV NCIT:C126877 Epidermodysplasia Verruciformis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:226400, MONDO:Lexical EV NCIT:C126877 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009197 transient erythroblastopenia of childhood oio:hasExactSynonym oio:hasRelatedSynonym TEC tec TEC NCIT:C131683 Transient Erythroblastopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227050, MONDO:Lexical TEC NCIT:C131683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009210 congenital factor V deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor V deficiency factor V deficiency Factor V Deficiency NCIT:C131738 Factor V Deficiency OMIM:227400 factor V deficiency NCIT:C131738 MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor VII deficiency factor VII deficiency Factor VII Deficiency NCIT:C131631 Factor VII Deficiency OMIM:227500 factor VII deficiency NCIT:C131631 -MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency factor X deficiency Factor X Deficiency NCIT:C131632 Factor X Deficiency OMIM:227600 factor X deficiency NCIT:C131632 MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym Stuart-Prower Factor deficiency Stuart-Prower Factor deficiency Stuart-Prower Factor Deficiency NCIT:C98940 Hereditary Factor X Deficiency OMIM:227600 Stuart-Prower Factor deficiency NCIT:C98940 MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group C Fanconi anemia, complementation group C Fanconi Anemia, Complementation Group C NCIT:C125704 Fanconi Anemia, Complementation Group C OMIM:227645, MONDO:Lexical Fanconi anemia, complementation group C NCIT:C125704 MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group D2 Fanconi anemia, complementation group D2 Fanconi Anemia, Complementation Group D2 NCIT:C125706 Fanconi Anemia, Complementation Group D2 MONDO:Lexical, OMIM:227646 Fanconi anemia, complementation group D2 NCIT:C125706 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A Fanconi Anemia, Complementation Group A NCIT:C125702 Fanconi Anemia, Complementation Group A OMIM:227650, MONDO:Lexical Fanconi anemia, complementation group A NCIT:C125702 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia NCIT:C62505 Fanconi Anemia OMIM:227650 Fanconi Anemia NCIT:C62505 MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK Deficiency NCIT:C114767 Galactokinase Deficiency OMIM:230200 Galk deficiency NCIT:C114767 MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C84725 eventration NCIT:C84725 -MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C84725 eventration NCIT:C98997 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency Platelet Glycoprotein Ib Deficiency NCIT:C84595 Bernard-Soulier Syndrome OMIM:231200 Platelet glycoprotein Ib deficiency NCIT:C84595 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym GLC3A NCIT:C148260 Primary Congenital Glaucoma 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231300, MONDO:Lexical GLC3A NCIT:C148260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym Pfkm deficiency Pfkm deficiency PFKM Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 Pfkm deficiency NCIT:C118437 MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym muscle phosphofructokinase deficiency muscle phosphofructokinase deficiency Muscle Phosphofructokinase Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 muscle phosphofructokinase deficiency NCIT:C118437 MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym GSD7 NCIT:C118437 Glycogen Storage Disease Type VII http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:232800 GSD7 NCIT:C118437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-Glomerular Basement Membrane Antibody Disease NCIT:C35798 Anti-Basement Membrane Glomerulonephritis GARD:0002551 anti-glomerular basement membrane antibody disease NCIT:C35798 MONDO:0009315 congenital factor XII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XII deficiency factor XII deficiency Factor XII Deficiency NCIT:C131740 Factor XII Deficiency OMIM:234000 factor XII deficiency NCIT:C131740 -MONDO:0009324 Hartnup disease oio:hasExactSynonym oio:hasRelatedSynonym HND NCIT:C40553 Tooth and Nail Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:234500 HND NCIT:C40553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Chl Chl cHL NCIT:C7164 Classic Hodgkin Lymphoma OMIM:236000, MONDO:Lexical Chl NCIT:C7164 MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym CHL Chl CHL NCIT:C7164 Classic Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236000, MONDO:Lexical CHL NCIT:C7164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym homocystinuria-megaloblastic anemia, cblE complementation type homocystinuria-megaloblastic anemia, cblE complementation type Homocystinuria-Megaloblastic Anemia, cblE Complementation Type NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type OMIM:236270, MONDO:Lexical homocystinuria-megaloblastic anemia, cblE complementation type NCIT:C142173 @@ -1381,14 +856,11 @@ MONDO:0009436 congenital hypothalamic hamartoma syndrome oio:hasExactSynonym oio MONDO:0009452 Vici syndrome oio:hasExactSynonym oio:hasRelatedSynonym VICIS NCIT:C138174 Vici Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:242840, MONDO:Lexical VICIS NCIT:C138174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke IMMUNOOSSEOUS dysplasia Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 Schimke IMMUNOOSSEOUS dysplasia NCIT:C135087 MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke Immunoosseous dysplasia Schimke Immunoosseous dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 Schimke Immunoosseous dysplasia NCIT:C135087 -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive hyper IgE syndrome autosomal recessive hyper IgE syndrome Autosomal Recessive hyper IgE syndrome NCIT:C126343 DOCK8 Deficiency GARD:0002816 autosomal recessive hyper IgE syndrome NCIT:C126343 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome Kartagener syndrome Kartagener Syndrome NCIT:C84797 Kartagener Syndrome OMIM:244400 Kartagener syndrome NCIT:C84797 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PAPILLON-Lefevre syndrome PAPILLON-Lefevre syndrome Papillon-Lefevre Syndrome NCIT:C84992 Papillon-Lefevre Syndrome MONDO:Lexical, OMIM:245000 PAPILLON-Lefevre syndrome NCIT:C84992 MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide Beta-Galactosidase Deficiency NCIT:C61254 Krabbe Disease OMIM:245200 galactosylceramide Beta-galactosidase deficiency NCIT:C61254 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome OMIM:245800 Laurence-MOON syndrome NCIT:C118632 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl Syndrome NCIT:C118632 Bardet-Biedl Syndrome DOID:1930 Laurence-Moon-Biedl syndrome NCIT:C118632 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome OMIM:245800 Laurence-MOON syndrome NCIT:C34760 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency OMIM:246450 HMG-Coa lyase deficiency NCIT:C84523 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 3 split-hand/foot malformation 3 Split-Hand/Foot Malformation 3 NCIT:C75121 Split-Hand/Foot Malformation Type 3 OMIM:246560, MONDO:Lexical split-hand/foot malformation 3 NCIT:C75121 @@ -1410,8 +882,6 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelat MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile Spinal Muscular Atrophy NCIT:C118847 Spinal Muscular Atrophy Type 3 Orphanet:83419 juvenile spinal muscular atrophy NCIT:C118847 MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Miyoshi Muscular Dystrophy 1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 NCIT:C118846 MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 NCIT:C118846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis myelofibrosis Myelofibrosis NCIT:C3248 Myelofibrosis OMIM:254450 myelofibrosis NCIT:C3248 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL Amyloidosis NCIT:C158963 AL Amyloidosis OMIM:254500 Al amyloidosis NCIT:C158963 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym minicore myopathy with external ophthalmoplegia minicore myopathy with external ophthalmoplegia Minicore Myopathy with External Ophthalmoplegia NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia OMIM:255320 minicore myopathy with external ophthalmoplegia NCIT:C150608 MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 NCIT:C74998 Nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 NPH1 NCIT:C74998 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym oio:hasRelatedSynonym diffuse mesangial sclerosis diffuse mesangial sclerosis Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis GARD:0003547 diffuse mesangial sclerosis NCIT:C121198 @@ -1420,18 +890,13 @@ MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym neuram MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym Santavuori disease Santavuori disease Santavuori Disease NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 OMIM:256730 Santavuori disease NCIT:C85861 MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym infantile neuronal ceroid lipofuscinosis infantile neuronal ceroid lipofuscinosis Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 NCIT:C85861 infantile neuronal ceroid lipofuscinosis NCIT:C85861 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 CIPA NCIT:C118633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C161542 Neuroaxonal Dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical NAD NCIT:C161542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C3694 Dysplastic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical NAD NCIT:C3694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type A Niemann-PICK disease, type A Niemann-Pick Disease, Type A NCIT:C126561 Niemann-Pick Disease, Type A OMIM:257200 Niemann-PICK disease, type A NCIT:C126561 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C1 Niemann-PICK disease, type C1 Niemann-Pick Disease, Type C1 NCIT:C126864 Niemann-Pick Disease, Type C1 OMIM:257220 Niemann-PICK disease, type C1 NCIT:C126864 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria Orphanet:30 hereditary orotic aciduria NCIT:C98944 -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSynonym oio:hasRelatedSynonym Torg-Winchester syndrome Torg-Winchester syndrome Torg-Winchester Syndrome NCIT:C170731 Winchester Syndrome OMIM:259600 Torg-Winchester syndrome NCIT:C170731 MONDO:0009820 osteoporosis-pseudoglioma syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis pseudoglioma syndrome osteoporosis pseudoglioma syndrome Osteoporosis Pseudoglioma Syndrome NCIT:C130998 Osteoporosis Pseudoglioma Syndrome GARD:0004160 osteoporosis pseudoglioma syndrome NCIT:C130998 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm pancreas neoplasm Pancreas Neoplasm NCIT:C3305 Pancreatic Neoplasm DOID:1793 pancreas neoplasm NCIT:C3305 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of Choroid Plexus NCIT:C3698 Choroid Plexus Papilloma OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus NCIT:C3698 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma, choroid plexus, benign papilloma, choroid plexus, benign PAPILLOMA, CHOROID PLEXUS, BENIGN NCIT:C3698 Choroid Plexus Papilloma NCIT:C3698 papilloma, choroid plexus, benign NCIT:C3698 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 choroid plexus carcinoma NCIT:C4715 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 choroid plexus carcinoma NCIT:C4715 MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym oio:hasRelatedSynonym hernia uteri inguinale hernia uteri inguinale Hernia Uteri Inguinale NCIT:C120188 Persistent Mullerian Duct Syndrome OMIM:261550 hernia uteri inguinale NCIT:C120188 MONDO:0009862 dihydropteridine reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HPABH4C NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261630, MONDO:Lexical HPABH4C NCIT:C138173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Phosphoglycerate mutase deficiency Phosphoglycerate mutase deficiency Phosphoglycerate Mutase Deficiency NCIT:C131647 Phosphoglycerate Mutase Deficiency GARD:0009964 Phosphoglycerate mutase deficiency NCIT:C131647 @@ -1439,7 +904,6 @@ MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence Pierre Robin sequence Pierre Robin Sequence NCIT:C85010 Pierre Robin Syndrome OMIM:261800, MESH:D010855 Pierre Robin sequence NCIT:C85010 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome Pierre Robin syndrome Pierre Robin Syndrome NCIT:C85010 Pierre Robin Syndrome MONDO:Lexical, OMIM:261800 Pierre Robin syndrome NCIT:C85010 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Robin sequence Robin sequence Robin Sequence NCIT:C85010 Pierre Robin Syndrome MESH:D010855 Robin sequence NCIT:C85010 -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth Hormone Insensitivity Syndrome NCIT:C129867 Growth Hormone Insensitivity Syndrome OMIM:262500 growth hormone insensitivity syndrome NCIT:C129867 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym DIP NCIT:C35288 Desquamative Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:263000 DIP NCIT:C35288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BPS NCIT:C168990 Bartsocas-Papas Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004436 BPS NCIT:C168990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP NCIT:C84697 Erythropoietic Porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 CEP NCIT:C84697 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1449,8 +913,6 @@ MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynon MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly-polydactyly syndrome holoprosencephaly-polydactyly syndrome Holoprosencephaly-Polydactyly Syndrome NCIT:C125418 Pseudotrisomy 13 Syndrome OMIM:264480 holoprosencephaly-polydactyly syndrome NCIT:C125418 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum NCIT:C85036 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary Atresia with Intact Ventricular Septum NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum OMIM:265150 pulmonary atresia with intact ventricular septum NCIT:C99032 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal circulation persistent fetal circulation Persistent Fetal Circulation NCIT:C85006 Persistent Fetal Circulation ICD9CM:747.83, DOID:13042 persistent fetal circulation NCIT:C85006 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent pulmonary hypertension of the newborn persistent pulmonary hypertension of the newborn Persistent Pulmonary Hypertension of the Newborn NCIT:C85006 Persistent Fetal Circulation DOID:13042 persistent pulmonary hypertension of the newborn NCIT:C85006 MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym oio:hasRelatedSynonym hereditary pyropoikilocytosis hereditary pyropoikilocytosis Hereditary Pyropoikilocytosis NCIT:C98943 Hereditary Pyropoikilocytosis GARD:0004619 hereditary pyropoikilocytosis NCIT:C98943 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate Carboxylase Deficiency NCIT:C85040 Pyruvate Carboxylase Deficiency OMIM:266150 pyruvate carboxylase deficiency NCIT:C85040 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym pyruvate kinase deficiency pyruvate kinase deficiency Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency GARD:0007514 pyruvate kinase deficiency NCIT:C99037 @@ -1465,25 +927,16 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy D MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant GM2-Gangliosidosis, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 GM2-gangliosidosis, AB variant NCIT:C133084 MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym Tay-Sachs disease, AB variant Tay-Sachs disease, AB variant Tay-Sachs Disease, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 Tay-Sachs disease, AB variant NCIT:C133084 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease OMIM:272800 TAY-Sachs disease NCIT:C85184 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 endodermal sinus tumor NCIT:C3011 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 endodermal sinus tumor NCIT:C3011 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 spermatocytic seminoma NCIT:C39921 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic Seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 spermatocytic seminoma NCIT:C39921 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer testicular germ cell cancer Testicular Germ Cell Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor DOID:5557 testicular germ cell cancer NCIT:C9063 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma OMIM:273300 seminoma NCIT:C9309 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR Syndrome NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 Tar syndrome NCIT:C99038 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 1Q21.1 deletion syndrome, 200-Kb chromosome 1Q21.1 deletion syndrome, 200-Kb Chromosome 1q21.1 Deletion Syndrome, 200-Kb NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 chromosome 1Q21.1 deletion syndrome, 200-Kb NCIT:C99038 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAR NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274000 TAR NCIT:C99038 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DPD deficiency DPD deficiency DPD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 DPD deficiency NCIT:C84672 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency DPYD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 Dpyd deficiency NCIT:C84672 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance thyroid hormone resistance Thyroid Hormone Resistance NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 thyroid hormone resistance NCIT:C85191 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance syndrome thyroid hormone resistance syndrome Thyroid Hormone Resistance Syndrome NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 thyroid hormone resistance syndrome NCIT:C85191 MONDO:0010132 familial thyroid dyshormonogenesis oio:hasExactSynonym oio:hasBroadSynonym dyshormonogenesis dyshormonogenesis Dyshormonogenesis NCIT:C121751 Thyroid Dyshormonogenesis NCIT:C121751 dyshormonogenesis NCIT:C121751 MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency thyroid peroxidase deficiency Thyroid Peroxidase Deficiency NCIT:C121750 Thyroid Peroxidase Deficiency OMIM:274500 thyroid peroxidase deficiency NCIT:C121750 -MONDO:0010134 Pendred syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDS NCIT:C5576 Skin Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:274600, MONDO:Lexical PDS NCIT:C5576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism hypothalamic hypothyroidism Hypothalamic Hypothyroidism NCIT:C121741 Hypothalamic Hypothyroidism OMIM:275120 hypothalamic hypothyroidism NCIT:C121741 -MONDO:0010150 head and neck squamous cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the head and neck carcinoma of the head and neck Carcinoma of the Head and Neck NCIT:C35850 Head and Neck Carcinoma NCIT:C35850, DOID:5520 carcinoma of the head and neck NCIT:C35850 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral aplasia of the vas deferens congenital bilateral aplasia of the vas deferens Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 congenital bilateral aplasia of the vas deferens NCIT:C129303 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD NCIT:C129303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic aciduria and homocystinuria, cblC type methylmalonic aciduria and homocystinuria, cblC type Methylmalonic Aciduria and Homocystinuria, cblC Type NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type OMIM:277400 methylmalonic aciduria and homocystinuria, cblC type NCIT:C142174 @@ -1502,8 +955,6 @@ MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSy MONDO:0010215 xeroderma pigmentosum group F oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group F xeroderma pigmentosum, complementation group F Xeroderma Pigmentosum, Complementation Group F NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F OMIM:278760, MONDO:Lexical xeroderma pigmentosum, complementation group F NCIT:C3968 MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group G xeroderma pigmentosum, complementation group G Xeroderma Pigmentosum, Complementation Group G NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G OMIM:278780, MONDO:Lexical xeroderma pigmentosum, complementation group G NCIT:C3969 MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 adrenal hypoplasia congenita NCIT:C123725 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia NCIT:C123725 adrenal hypoplasia congenita NCIT:C35261 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC NCIT:C35261 Congenital Adrenal Gland Hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC NCIT:C35261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome OMIM:300260 MECP2 Duplication syndrome NCIT:C126747 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency X-linked creatine transporter deficiency X-Linked Creatine Transporter Deficiency NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 Orphanet:52503 X-linked creatine transporter deficiency NCIT:C125665 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym CCDS1 NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300352 CCDS1 NCIT:C125665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1534,12 +985,8 @@ MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets X-linked hypophosphatemic rickets X-linked Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets Orphanet:89936 X-linked hypophosphatemic rickets NCIT:C85234 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets OMIM:307800 hypophosphatemic vitamin D-resistant rickets NCIT:C85234 MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, X-linked ichthyosis, X-linked Ichthyosis, X-linked NCIT:C84779 X-Linked Ichthyosis OMIM:308100, MONDO:Lexical ichthyosis, X-linked NCIT:C84779 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome hyper IgM syndrome Hyper IgM Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome GARD:0000073 hyper IgM syndrome NCIT:C3990 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency CD40 ligand deficiency CD40 Ligand Deficiency NCIT:C61244 CD40 Ligand Deficiency NCIT:C61244 CD40 ligand deficiency NCIT:C61244 -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS NCIT:C124837 Kabuki Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 KMS NCIT:C124837 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 1 Kallmann syndrome 1 Kallmann Syndrome 1 NCIT:C75480 Kallmann Syndrome 1 OMIM:308700 Kallmann syndrome 1 NCIT:C75480 -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem Cell Leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 stem cell leukemia NCIT:C9298 -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 stem cell leukemia NCIT:C9298 MONDO:0010653 Renpenning syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Renpenning type mental retardation, X-linked, Renpenning type Mental Retardation, X-Linked, Renpenning Type NCIT:C165533 Renpenning Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309500 mental retardation, X-linked, Renpenning type NCIT:C165533 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 myotubular myopathy 1 Myotubular Myopathy 1 NCIT:C118781 X-Linked Centronuclear Myopathy OMIM:310400 myotubular myopathy 1 NCIT:C118781 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX NCIT:C118781 X-Linked Centronuclear Myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 CNMX NCIT:C118781 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1554,8 +1001,6 @@ MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic MONDO:0010795 oncocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm NCIT:C7072 oncocytoma NCIT:C7072 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal Familial Insomnia NCIT:C84711 Fatal Familial Insomnia OMIM:600072 fatal familial INSOMNIA NCIT:C84711 MONDO:0010811 benign prostatic hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym BPH NCIT:C2897 Benign Prostatic Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600082, MONDO:Lexical BPH NCIT:C2897 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia NCIT:C118455 Sirenomelia OMIM:600145 sirenomelia NCIT:C118455 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia SIRENOMELIA NCIT:C118455 Sirenomelia OMIM:600145 sirenomelia NCIT:C118455 MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis OMIM:600145 caudal regression syndrome NCIT:C99054 MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sacral agenesis sacral agenesis Sacral Agenesis NCIT:C99054 Sacral Agenesis OMIM:600145 sacral agenesis NCIT:C99054 MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q37 deletion syndrome chromosome 2q37 deletion syndrome Chromosome 2q37 Deletion Syndrome NCIT:C129021 Chromosome 2q37 Deletion Syndrome OMIM:600430 chromosome 2q37 deletion syndrome NCIT:C129021 @@ -1566,11 +1011,6 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 NCIT:C142894 Long QT Syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 NCIT:C142894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB NCIT:C5669 Pleuropulmonary Blastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601200 PPB NCIT:C5669 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011055 distal monosomy 10p oio:hasExactSynonym oio:hasRelatedSynonym DGS2 Dgs2 DGS2 NCIT:C130982 10p13-p14 Deletion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601362 DGS2 NCIT:C130982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke OMIM:601367 cerebral infarction NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrovascular accident cerebrovascular accident Cerebrovascular Accident NCIT:C3390 Stroke DOID:6713 cerebrovascular accident NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke stroke Stroke NCIT:C3390 Stroke DOID:6713 stroke NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA NCIT:C3390 Stroke http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 CVA NCIT:C3390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction OMIM:601367 cerebral infarction NCIT:C50486 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase Deficiency NCIT:C129073 Mucopolysaccharidosis Type IX OMIM:601492 hyaluronidase deficiency NCIT:C129073 MONDO:0011094 dilated cardiomyopathy 1C oio:hasExactSynonym oio:hasRelatedSynonym CMD1C NCIT:C170436 Dilated Cardiomyopathy-1C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601493, MONDO:Lexical CMD1C NCIT:C170436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym oio:hasRelatedSynonym PBD1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601539 PBD1B NCIT:C155749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1578,8 +1018,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio: MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym infantile convulsions and paroxysmal choreoathetosis, familial infantile convulsions and paroxysmal choreoathetosis, familial Infantile Convulsions and Paroxysmal Choreoathetosis, Familial NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 infantile convulsions and paroxysmal choreoathetosis, familial NCIT:C126650 MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions paroxysmal kinesigenic dyskinesia with infantile convulsions Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 paroxysmal kinesigenic dyskinesia with infantile convulsions NCIT:C126650 MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C126650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA ICCA iCCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C35417 -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 2 dystrophia myotonica 2 Dystrophia Myotonica 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668 dystrophia myotonica 2 NCIT:C84680 MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 2 myotonic dystrophy 2 Myotonic Dystrophy 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668, MONDO:Lexical myotonic dystrophy 2 NCIT:C84680 MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 NCIT:C84680 Dystrophia Myotonica 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical DM2 NCIT:C84680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1589,11 +1027,7 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym oio:hasRelate MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group F Fanconi anemia, complementation group F Fanconi Anemia, Complementation Group F NCIT:C125707 Fanconi Anemia, Complementation Group F OMIM:603467, MONDO:Lexical Fanconi anemia, complementation group F NCIT:C125707 MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym NIID Niid NIID NCIT:C122655 Neuronal Intranuclear Inclusion Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603472 NIID NCIT:C122655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity type 2 spondyloepimetaphyseal dysplasia with JOINT laxity type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 OMIM:603546, MONDO:Lexical spondyloepimetaphyseal dysplasia with JOINT laxity type 2 NCIT:C125419 -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym ovarian germ cell cancer ovarian germ cell cancer Ovarian Germ Cell Cancer NCIT:C4514 Malignant Ovarian Germ Cell Tumor OMIM:603737 ovarian germ cell cancer NCIT:C4514 -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym lumbar disc degeneration lumbar disc degeneration Lumbar Disc Degeneration NCIT:C27154 Lumbar Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 lumbar disc degeneration NCIT:C27154 -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym cervical disc degenerative disease cervical disc degenerative disease Cervical Disc Degenerative Disease NCIT:C27156 Cervical Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 cervical disc degenerative disease NCIT:C27156 MONDO:0011405 poikiloderma with neutropenia oio:hasExactSynonym oio:hasRelatedSynonym PN NCIT:C177535 Poikiloderma with Neutropenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604173 PN NCIT:C177535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis juvenile chronic polyarthritis Juvenile Chronic Polyarthritis NCIT:C26979 Juvenile Chronic Polyarthritis DOID:676 juvenile chronic polyarthritis NCIT:C26979 MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 11 spastic paraplegia 11 Spastic Paraplegia 11 NCIT:C148317 Spastic Paraplegia 11 GARD:0004919 spastic paraplegia 11 NCIT:C148317 MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum NCIT:C148317 Spastic Paraplegia 11 OMIM:604360 spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum NCIT:C148317 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne pyogenic arthritis, pyoderma gangrenosum and acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne GARD:0009176 pyogenic arthritis, pyoderma gangrenosum and acne NCIT:C119055 @@ -1603,11 +1037,10 @@ MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:ha MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine Encephalopathy NCIT:C84937 Glycine Encephalopathy OMIM:605899 GLYCINE encephalopathy NCIT:C84937 MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 21 amyotrophic lateral sclerosis 21 Amyotrophic Lateral Sclerosis 21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 MONDO:Lexical, OMIM:606070 amyotrophic lateral sclerosis 21 NCIT:C168755 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 Deletion Syndrome NCIT:C157124 Phelan-McDermid Syndrome OMIM:606232 chromosome 22Q13.3 deletion syndrome NCIT:C157124 -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C7943 MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasRelatedSynonym LAM NCIT:C3725 Lymphangioleiomyomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:538, OMIM:606690 LAM NCIT:C3725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasNarrowSynonym lung lymphangioleiomyomatosis lung lymphangioleiomyomatosis Lung Lymphangioleiomyomatosis NCIT:C38153 Lung Lymphangioleiomyomatosis DOID:3319 lung lymphangioleiomyomatosis NCIT:C38153 MONDO:0011709 split hand-foot malformation 5 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 5 split-hand/foot malformation 5 Split-Hand/Foot Malformation 5 NCIT:C75002 Split-Hand/Foot Malformation Type 5 MONDO:Lexical, OMIM:606708 split-hand/foot malformation 5 NCIT:C75002 MONDO:0011713 melanoma-pancreatic cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome OMIM:606719 familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 MONDO:0011732 familial digital arthropathy-brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym FDAB NCIT:C175208 Familial Digital Arthropathy-Brachydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606835 FDAB NCIT:C175208 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1615,39 +1048,22 @@ MONDO:0011738 bilateral frontoparietal polymicrogyria oio:hasExactSynonym oio:ha MONDO:0011743 Alzheimer disease 4 oio:hasExactSynonym oio:hasRelatedSynonym AD4 Ad4 AD4 NCIT:C123413 Alzheimer's Disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606889 AD4 NCIT:C123413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011776 CINCA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CINCA NCIT:C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607115 CINCA NCIT:C116380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011784 Moyamoya disease 2 oio:hasExactSynonym oio:hasRelatedSynonym MYMY2 NCIT:C183312 Moyamoya Disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607151, MONDO:Lexical MYMY2 NCIT:C183312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis seasonal allergic rhinitis Seasonal Allergic Rhinitis NCIT:C92188 Seasonal Allergic Rhinitis DOID:4481 seasonal allergic rhinitis NCIT:C92188 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 non-seasonal allergic rhinitis NCIT:C92189 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 perennial allergic rhinitis NCIT:C92189 MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-Girdle Muscular Dystrophy Type 2I NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 GARD:0012533 limb-girdle muscular dystrophy type 2I NCIT:C126739 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma OMIM:genemap2, OMIM:607174 meningioma NCIT:C3230 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma OMIM:genemap2, OMIM:607174 meningioma NCIT:C8264 MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym GCCD2 NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607398 GCCD2 NCIT:C123728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy psoriatic arthropathy Psoriatic Arthropathy NCIT:C61277 Psoriatic Arthritis DOID:9008 psoriatic arthropathy NCIT:C61277 MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B Niemann-Pick Disease, Type B NCIT:C126866 Niemann-Pick Disease, Type B OMIM:607616 Niemann-PICK disease, type B NCIT:C126866 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID Syndrome NCIT:C111814 Griscelli Syndrome Type 2 OMIM:607624 Paid syndrome NCIT:C111814 MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C2 Niemann-PICK disease, type C2 Niemann-Pick Disease, Type C2 NCIT:C126865 Niemann-Pick Disease, Type C2 OMIM:607625 Niemann-PICK disease, type C2 NCIT:C126865 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym TINU NCIT:C123021 Tubulointerstitial Nephritis and Uveitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607665 TINU NCIT:C123021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 NCIT:C176939 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH1 NCIT:C176939 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic Myelomonocytic Leukemia NCIT:C3178 Chronic Myelomonocytic Leukemia NCIT:C9233 chronic myelomonocytic leukemia NCIT:C3178 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym endometrial neoplasm endometrial neoplasm Endometrial Neoplasm NCIT:C3012 Endometrial Neoplasm DOID:1380 endometrial neoplasm NCIT:C3012 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of endometrium neoplasm of endometrium Neoplasm of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380 neoplasm of endometrium NCIT:C3012 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of endometrium tumor of endometrium Tumor of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380, NCIT:C3012 tumor of endometrium NCIT:C3012 MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 39 deafness, autosomal recessive 39 Deafness, Autosomal Recessive 39 NCIT:C129874 Deafness, Autosomal Recessive 39 MONDO:Lexical, OMIM:608265, OMIM:genemap2 deafness, autosomal recessive 39 NCIT:C129874 MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym DFNB39 NCIT:C129874 Deafness, Autosomal Recessive 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110497, MONDO:Lexical, OMIM:608265 DFNB39 NCIT:C129874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland neoplasm parathyroid gland neoplasm Parathyroid Gland Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540, NCIT:C3313 parathyroid gland neoplasm NCIT:C3313 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid neoplasm parathyroid neoplasm Parathyroid Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540 parathyroid neoplasm NCIT:C3313 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 cancer of parathyroid gland NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the parathyroid gland cancer of the parathyroid gland Cancer of the Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 cancer of the parathyroid gland NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 parathyroid cancer NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma DOID:1540, NCIT:C4906 parathyroid gland cancer NCIT:C4906 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm ICD9CM:194.1, DOID:1540 malignant neoplasm of parathyroid gland NCIT:C9322 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm NCIT:C9322, DOID:1540 malignant neoplasm of the parathyroid NCIT:C9322 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary Malformation-Arteriovenous Malformation NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation NCIT:C179668 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym oio:hasRelatedSynonym MYH-associated polyposis MYH-associated polyposis MYH-Associated Polyposis NCIT:C96520 MUTYH-Associated Polyposis GARD:0010805 MYH-associated polyposis NCIT:C96520 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder major depressive disorder Major Depressive Disorder NCIT:C35094 Unipolar Depression MONDO:Lexical, OMIM:608516 major depressive disorder NCIT:C35094 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression unipolar depression Unipolar Depression NCIT:C35094 Unipolar Depression OMIM:608516, DOID:1595 unipolar depression NCIT:C35094 MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 15q11-q13 DUPLICATION syndrome chromosome 15q11-q13 DUPLICATION syndrome Chromosome 15q11-q13 Duplication Syndrome NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome OMIM:608636 chromosome 15q11-q13 DUPLICATION syndrome NCIT:C126692 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Aadc deficiency Aadc deficiency AADC Deficiency NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency OMIM:608643 Aadc deficiency NCIT:C142085 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial Trifunctional Protein Deficiency NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency NCIT:C98991 @@ -1656,11 +1072,9 @@ MONDO:0012186 Fanconi anemia complementation group I oio:hasExactSynonym oio:has MONDO:0012187 Fanconi anemia complementation group J oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group J Fanconi anemia, complementation group J Fanconi Anemia, Complementation Group J NCIT:C129027 Fanconi Anemia, Complementation Group J OMIM:609054, MONDO:Lexical Fanconi anemia, complementation group J NCIT:C129027 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 1 Combined Oxidative Phosphorylation Deficiency 1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 OMIM:609060, MONDO:Lexical combined oxidative phosphorylation deficiency 1 NCIT:C125663 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym COXPD1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609060, MONDO:Lexical COXPD1 NCIT:C125663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012197 idiopathic aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym aplastic anemia aplastic anemia Aplastic Anemia NCIT:C2870 Aplastic Anemia OMIM:609135 aplastic anemia NCIT:C2870 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 oio:hasExactSynonym oio:hasRelatedSynonym CMT2A2A NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609260 CMT2A2A NCIT:C150646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2K limb-girdle muscular dystrophy type 2K Limb-Girdle Muscular Dystrophy Type 2K NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 GARD:0012535 limb-girdle muscular dystrophy type 2K NCIT:C133730 MONDO:0012249 Lynch syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HNPCC2 NCIT:C6726 Lynch 2 Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609310, MONDO:Lexical HNPCC2 NCIT:C6726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AT/RT At/RT AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609322 AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012268 AIDS oio:hasExactSynonym oio:hasRelatedSynonym acquired immunodeficiency syndrome acquired immunodeficiency syndrome Acquired Immunodeficiency Syndrome NCIT:C2851 Acquired Immunodeficiency Syndrome DOID:635 acquired immunodeficiency syndrome NCIT:C2851 MONDO:0012308 Joubert syndrome with renal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 4 Joubert syndrome 4 Joubert Syndrome 4 NCIT:C74997 Joubert Syndrome 4 GARD:0010169, OMIM:609583, MONDO:Lexical Joubert syndrome 4 NCIT:C74997 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed Syndrome NCIT:C119058 Majeed Syndrome OMIM:609628 MAJEED syndrome NCIT:C119058 @@ -1683,11 +1097,9 @@ MONDO:0012727 mucocutaneous lymph node syndrome oio:hasExactSynonym oio:hasRelat MONDO:0012734 SERKAL syndrome oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs NCIT:C123726 SERKAL Syndrome OMIM:611812, MONDO:Lexical 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs NCIT:C123726 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p11.2 deletion syndrome chromosome 16p11.2 deletion syndrome Chromosome 16p11.2 Deletion Syndrome NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome GARD:0010740 chromosome 16p11.2 deletion syndrome NCIT:C120408 MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 oio:hasExactSynonym oio:hasRelatedSynonym CPVT2 NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611938, MONDO:Lexical CPVT2 NCIT:C148368 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor OMIM:612219, OMIM:genemap2 neuroepithelioma NCIT:C3716 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym Ewing tumor NCIT:C4817 Ewing Sarcoma GARD:0006390 Ewing tumor NCIT:C4817 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym EMC NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612237 EMC NCIT:C27502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome oio:hasExactSynonym oio:hasRelatedSynonym CAN can CAN NCIT:C38145 Chronic Allograft Nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612247 CAN NCIT:C38145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XI deficiency factor XI deficiency Factor XI Deficiency NCIT:C131739 Factor XI Deficiency OMIM:612416 factor XI deficiency NCIT:C131739 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym Albright hereditary osteodystrophy without multiple hormone resistance Albright hereditary osteodystrophy without multiple hormone resistance Albright Hereditary Osteodystrophy without Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance OMIM:612463 Albright hereditary osteodystrophy without multiple hormone resistance NCIT:C129722 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym PPHP NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612463 PPHP NCIT:C129722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wagro syndrome Wagro syndrome WAGRO Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome OMIM:612469 Wagro syndrome NCIT:C122804 @@ -1726,9 +1138,7 @@ MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:ha MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical MCAHS1 NCIT:C176896 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013565 Fanconi anemia complementation group G oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group G Fanconi anemia, complementation group G Fanconi Anemia, Complementation Group G NCIT:C125708 Fanconi Anemia, Complementation Group G OMIM:614082, MONDO:Lexical Fanconi anemia, complementation group G NCIT:C125708 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 2 MOSAIC variegated aneuploidy syndrome 2 Mosaic Variegated Aneuploidy Syndrome 2 NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 OMIM:614114 MOSAIC variegated aneuploidy syndrome 2 NCIT:C168989 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis NCIT:C34888 Palmoplantar Pustulosis OMIM:614204 palmoplantar pustulosis NCIT:C34888 MONDO:0013656 intellectual disability, autosomal dominant 9 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 9 mental retardation, autosomal dominant 9 Mental Retardation, Autosomal Dominant 9 NCIT:C133742 Mental Retardation, Autosomal Dominant 9 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:614255, MONDO:Lexical mental retardation, autosomal dominant 9 NCIT:C133742 -MONDO:0013662 Barrett esophagus oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of esophagus adenocarcinoma of esophagus Adenocarcinoma of Esophagus NCIT:C4025 Esophageal Adenocarcinoma OMIM:614266 adenocarcinoma of esophagus NCIT:C4025 MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic lipase deficiency pancreatic lipase deficiency Pancreatic Lipase Deficiency NCIT:C129030 Pancreatic Lipase Deficiency MONDO:Lexical, OMIM:614338 pancreatic lipase deficiency NCIT:C129030 MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym PNLIPD NCIT:C129030 Pancreatic Lipase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614338, MONDO:Lexical PNLIPD NCIT:C129030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013779 Wiskott-Aldrich syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym WAS2 NCIT:C176820 Wiskott-Aldrich Syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614493, MONDO:Lexical WAS2 NCIT:C176820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1774,13 +1184,10 @@ MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXYY sy MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal Neuroendocrine Tumor NCIT:C135090 Jejunal Neuroendocrine Tumor Orphanet:100077 jejunal neuroendocrine tumor NCIT:C135090 MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal Neuroendocrine Tumor NCIT:C135092 Ileal Neuroendocrine Tumor Orphanet:100078 ileal neuroendocrine tumor NCIT:C135092 MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor NCIT:C135212 colon neuroendocrine tumor NCIT:C135212 -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym neuroendocrine neoplasm of the colon neuroendocrine neoplasm of the colon Neuroendocrine Neoplasm of the Colon NCIT:C5697 Colon Neuroendocrine Neoplasm Orphanet:100080 neuroendocrine neoplasm of the colon NCIT:C5697 -MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasBroadSynonym anal canal neuroendocrine neoplasm anal canal neuroendocrine neoplasm Anal Canal Neuroendocrine Neoplasm NCIT:C5603 Anal Canal Neuroendocrine Neoplasm MONDO:patterns/location anal canal neuroendocrine neoplasm NCIT:C5603 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the thyroid cancer of the thyroid Cancer of the Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 cancer of the thyroid NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of thyroid cancer of thyroid Cancer of Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 cancer of thyroid NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer thyroid cancer Thyroid Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 thyroid cancer NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 thyroid gland cancer NCIT:C4815 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym oio:hasNarrowSynonym autoimmune primary adrenal insufficiency autoimmune primary adrenal insufficiency Autoimmune Primary Adrenal Insufficiency NCIT:C113814 Autoimmune Primary Adrenal Insufficiency NCIT:C113814 autoimmune primary adrenal insufficiency NCIT:C113814 MONDO:0015286 congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorders of glycosylation congenital disorders of glycosylation Congenital Disorders of Glycosylation NCIT:C84615 Carbohydrate-Deficient Glycoprotein Syndrome GARD:0010307 congenital disorders of glycosylation NCIT:C84615 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym R4 NCIT:C121983 ROSE Cluster 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001339 R4 NCIT:C121983 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015440 ring chromosome 6 oio:hasExactSynonym oio:hasRelatedSynonym R6 NCIT:C121985 ROSE Cluster 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006095 R6 NCIT:C121985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1790,18 +1197,14 @@ MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasopharynx cancer of the nasopharynx Cancer of the Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 cancer of the nasopharynx NCIT:C3871 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal cancer nasopharyngeal cancer Nasopharyngeal Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 nasopharyngeal cancer NCIT:C3871 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal throat cancer nasopharyngeal throat cancer Nasopharyngeal Throat Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 nasopharyngeal throat cancer NCIT:C3871 -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm NCIT:C9321, DOID:9261 malignant nasopharyngeal tumor NCIT:C9321 -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm ICD9CM:147, DOID:9261, MTH:NOCODE malignant neoplasm of nasopharynx NCIT:C9321 MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired agammaglobulinemia acquired agammaglobulinemia Acquired Agammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency NCIT:C26725, DOID:12177 acquired agammaglobulinemia NCIT:C26725 MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia acquired hypogammaglobulinemia Acquired Hypogammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency DOID:12177 acquired hypogammaglobulinemia NCIT:C26725 MONDO:0015528 congenital epulis oio:hasExactSynonym oio:hasRelatedSynonym gingival granular cell tumor gingival granular cell tumor Gingival Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis NCIT:C4675 gingival granular cell tumor NCIT:C4675 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym oio:hasRelatedSynonym IDCT NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IDCT IDCT NCIT:C81767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic disorder hemophagocytic disorder Hemophagocytic Disorder NCIT:C34792 Hemophagocytic Lymphohistiocytosis NCIT:C34792 hemophagocytic disorder NCIT:C34792 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis GARD:0006589 familial hemophagocytic lymphohistiocytosis NCIT:C61276 MONDO:0015589 paraneoplastic limbic encephalitis oio:hasExactSynonym oio:hasBroadSynonym limbic encephalitis limbic encephalitis Limbic Encephalitis NCIT:C4350 Limbic Encephalitis NCIT:C4350 limbic encephalitis NCIT:C4350 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 hereditary motor and sensory neuropathy NCIT:C75467 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary sensorimotor neuropathy hereditary sensorimotor neuropathy Hereditary Sensorimotor Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 hereditary sensorimotor neuropathy NCIT:C75467 -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia NCIT:C27753 acute myeloid leukemia NCIT:C3171 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 Mosaicism NCIT:C116319 Trisomy 14 Mosaicism GARD:0001327 trisomy 14 mosaicism NCIT:C116319 MONDO:0015742 periventricular leukomalacia oio:hasExactSynonym oio:hasRelatedSynonym PVL NCIT:C99013 Periventricular Leukomalacia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010285 PVL NCIT:C99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015863 polyembryoma oio:hasExactSynonym oio:hasRelatedSynonym gonadal polyembryoma gonadal polyembryoma Gonadal Polyembryoma NCIT:C66776 Gonadal Polyembryoma GARD:0009621 gonadal polyembryoma NCIT:C66776 @@ -1809,11 +1212,6 @@ MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer o MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma NCIT:C3917 cancer of vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 vagina cancer NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer vaginal cancer Vaginal Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 vaginal cancer NCIT:C3917 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma Phyllodes NCIT:C2977 Phyllodes Tumor DOID:1631 cystosarcoma phyllodes NCIT:C2977 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes Neoplasm NCIT:C2977 Phyllodes Tumor NCIT:C2977, DOID:1631 phyllodes neoplasm NCIT:C2977 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes benign cystosarcoma phyllodes Benign Cystosarcoma Phyllodes NCIT:C4274 Benign Phyllodes Tumor DOID:1631 benign cystosarcoma phyllodes NCIT:C4274 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm Benign Phyllodes Neoplasm NCIT:C4274 Benign Phyllodes Tumor DOID:1631, NCIT:C4274 benign phyllodes neoplasm NCIT:C4274 -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Paget disease of the breast Paget Disease of the Breast NCIT:C47857 Breast Paget Disease Orphanet:180275 Paget disease of the breast NCIT:C47857 MONDO:0015998 isolated ectopia lentis oio:hasExactSynonym oio:hasRelatedSynonym congenital ectopic lens congenital ectopic lens Congenital Ectopic Lens NCIT:C34566 Congenital Ectopic Lens NCIT:C34566 congenital ectopic lens NCIT:C34566 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 NCIT:C125700 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VI Ehlers-Danlos Syndrome, Type VI NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400, MONDO:Lexical, MESH:C536198 Ehlers-Danlos syndrome, type VI NCIT:C125700 @@ -1822,41 +1220,18 @@ MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym phenytoin embryopathy phenytoin embryopathy Phenytoin Embryopathy NCIT:C98927 Fetal Hydantoin Syndrome GARD:0006435 phenytoin embryopathy NCIT:C98927 MONDO:0016012 diethylstilbestrol syndrome oio:hasExactSynonym oio:hasRelatedSynonym fetal diethylstilbestrol syndrome fetal diethylstilbestrol syndrome Fetal Diethylstilbestrol Syndrome NCIT:C113422 Diethylstilbestrol Syndrome GARD:0001859 fetal diethylstilbestrol syndrome NCIT:C113422 MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSynonym calcifying aponeurotic fibroma calcifying aponeurotic fibroma Calcifying Aponeurotic Fibroma NCIT:C4818 Calcifying Aponeurotic Fibroma Orphanet:199260 calcifying aponeurotic fibroma NCIT:C4818 -MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma DOID:6457, NCIT:C8419 dysplastic gangliocytoma of cerebellum NCIT:C8419 MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS NCIT:C84657 Cryopyrin-Associated Periodic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS NCIT:C84657 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C3099 -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C7955 MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C7956 MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym oio:hasRelatedSynonym KHE NCIT:C27510 Kaposiform Hemangioendothelioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003077 KHE NCIT:C27510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C7634 hemangiopericytoma NCIT:C3087 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C7634 hemangiopericytoma NCIT:C50401 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C7634 hemangiopericytoma NCIT:C7634 -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasNarrowSynonym carcinosarcoma of the uterus carcinosarcoma of the uterus Carcinosarcoma of the Uterus NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180 carcinosarcoma of the uterus NCIT:C42700 -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasBroadSynonym uterine carcinosarcoma uterine carcinosarcoma Uterine Carcinosarcoma NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180, Orphanet:213610 uterine carcinosarcoma NCIT:C42700 MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development Orphanet:2138 true hermaphroditism NCIT:C127167 -MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism Orphanet:2138 true hermaphroditism NCIT:C85207 MONDO:0016356 diffuse cutaneous systemic sclerosis oio:hasExactSynonym oio:hasRelatedSynonym DcSSc DcSSc dcSSc NCIT:C116791 Diffuse Cutaneous Systemic Sclerosis GARD:0009751 DcSSc NCIT:C116791 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult Dermatomyositis NCIT:C27313 Adult Dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis NCIT:C27313 MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym oio:hasBroadSynonym hypogammaglobulinemia hypogammaglobulinemia Hypogammaglobulinemia NCIT:C26931 Hypogammaglobulinemia NCIT:C26931 hypogammaglobulinemia NCIT:C26931 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasBroadSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis Orphanet:2467 Mast cell disease NCIT:C84269 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis Aggressive Systemic Mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 Aggressive systemic mastocytosis NCIT:C9285 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 Aggressive systemic mastocytosis NCIT:C9285 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm meningeal neoplasm Meningeal Neoplasm NCIT:C3229 Meningeal Neoplasm DOID:3565 meningeal neoplasm NCIT:C3229 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym R5 NCIT:C121984 ROSE Cluster 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010841 R5 NCIT:C121984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016668 sickle cell-beta-thalassemia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym sickle beta thalassemia sickle beta thalassemia Sickle Beta Thalassemia NCIT:C95539 Sickle Beta Thalassemia GARD:0010333 sickle beta thalassemia NCIT:C95539 -MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-Grade Astrocytoma NCIT:C9477 Anaplastic Astrocytoma Orphanet:251561 high-grade astrocytoma NCIT:C9477 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm oligodendroglial neoplasm Oligodendroglial Neoplasm NCIT:C6960 Oligodendroglial Tumor DOID:3181 oligodendroglial neoplasm NCIT:C6960 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial Tumor NCIT:C6960 Oligodendroglial Tumor DOID:3181, NCIT:C6960 oligodendroglial tumor NCIT:C6960 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal neoplasm WHO grade II ependymal neoplasm WHO Grade II Ependymal Neoplasm NCIT:C3017 Ependymoma NCIT:C3017 WHO grade II ependymal neoplasm NCIT:C3017 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO Grade II Ependymal Tumor NCIT:C3017 Ependymoma DOID:4844, NCIT:C3017 WHO grade II ependymal tumor NCIT:C3017 -MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma MONDO:patterns/benign ependymoma, benign NCIT:C3697 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 CNS PNET NCIT:C5398 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system PNET central nervous system PNET Central Nervous System PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 central nervous system PNET NCIT:C5398 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central Nervous System Primitive Neuroectodermal Tumor NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 central nervous system primitive neuroectodermal tumor NCIT:C5398 MONDO:0016715 ependymoblastoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal tumor with abundant neuropil and true rosettes embryonal tumor with abundant neuropil and true rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered GARD:0006352 embryonal tumor with abundant neuropil and true rosettes NCIT:C4915 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of choroid plexus malignant neoplasm of choroid plexus Malignant Neoplasm of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 malignant neoplasm of choroid plexus NCIT:C4533 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm NCIT:C4533, DOID:5648 malignant neoplasm of the choroid plexus NCIT:C4533 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 malignant tumor of choroid plexus NCIT:C4533 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715, DOID:5648 cancer of choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the choroid plexus cancer of the choroid plexus Cancer of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 cancer of the choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 choroid plexus cancer NCIT:C4715 @@ -1864,22 +1239,15 @@ MONDO:0016787 epithelioid trophoblastic tumor oio:hasExactSynonym oio:hasRelated MONDO:0016985 nevus of Ito oio:hasExactSynonym oio:hasRelatedSynonym hypomelanosis of Ito hypomelanosis of Ito Hypomelanosis of Ito NCIT:C7582 Nevus of Ito NCIT:C7582 hypomelanosis of Ito NCIT:C7582 MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired factor II deficiency acquired factor II deficiency Acquired Factor II Deficiency NCIT:C131622 Acquired Factor II Deficiency GARD:0000475 acquired factor II deficiency NCIT:C131622 MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C114483 -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C3107 -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C114483 MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C3107 -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 +MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele NCIT:C101201 Myelomeningocele NCIT:C101201 myelomeningocele NCIT:C101201 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele CRANIAL MENINGOCELE NCIT:C124517 Cranial Meningocele Orphanet:268820 cranial meningocele NCIT:C124517 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial Meningocele NCIT:C124517 Cranial Meningocele Orphanet:268820 cranial meningocele NCIT:C124517 MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym River blindness River blindness River Blindness NCIT:C34861 Onchocerciasis GARD:0007252 River blindness NCIT:C34861 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym oio:hasBroadSynonym hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia Hyperinsulinemic Hypoglycemia NCIT:C131425 Congenital Hyperinsulinism NCIT:C131425 hyperinsulinemic hypoglycemia NCIT:C131425 -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis crescentic glomerulonephritis Crescentic Glomerulonephritis NCIT:C35444 Crescentic Glomerulonephritis Orphanet:280569 crescentic glomerulonephritis NCIT:C35444 -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C50401 hemangiopericytoma NCIT:C3087 MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C50401 hemangiopericytoma NCIT:C50401 -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C50401 hemangiopericytoma NCIT:C7634 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017419 non-syndromic amelia oio:hasExactSynonym oio:hasBroadSynonym amelia amelia Amelia NCIT:C34370 Amelia MONDO:ambiguous amelia NCIT:C34370 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of pituitary cancer of pituitary Cancer of Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of pituitary NCIT:C4536 @@ -1887,19 +1255,11 @@ MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary cancer of the pituitary Cancer of the Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of the pituitary NCIT:C4536 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary gland cancer of the pituitary gland Cancer of the Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of the pituitary gland NCIT:C4536 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 pituitary gland cancer NCIT:C4536 -MONDO:0017767 rheumatic fever oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder GARD:0005699 inflammatory rheumatism NCIT:C27204 MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease Whitmore disease Whitmore Disease NCIT:C128336 Melioidosis GARD:0009546 Whitmore disease NCIT:C128336 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid odontogenic tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 adenomatoid odontogenic tumor NCIT:C4310 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid Odontogenic Tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 adenomatoid odontogenic tumor NCIT:C4310 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym AOT aot AOT NCIT:C4310 Adenomatoid Odontogenic Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005747 AOT NCIT:C4310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma NCIT:C7644 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C3798, Orphanet:3148 neurofibrosarcoma NCIT:C3798 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym oio:hasRelatedSynonym SS NCIT:C3400 Synovial Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SS SS NCIT:C3400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia Variabilis et Progressiva NCIT:C84696 Erythrokeratodermia Variabilis OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva NCIT:C84696 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease pulseless disease Pulseless Disease NCIT:C35062 Takayasu Arteritis OMIM:207600 pulseless disease NCIT:C35062 -MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym TA NCIT:C4487 Tufted Angioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007730 TA NCIT:C4487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency factor XIII deficiency Factor XIII Deficiency NCIT:C131633 Factor XIII Deficiency DOID:2211 factor XIII deficiency NCIT:C131633 -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7955 hepatocellular cancer NCIT:C3099 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood carcinoma of liver cell childhood carcinoma of liver cell Childhood Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood carcinoma of liver cell NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood hepatoma childhood hepatoma Childhood Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood hepatoma NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood liver cell carcinoma childhood liver cell carcinoma Childhood Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood liver cell carcinoma NCIT:C7955 @@ -1907,25 +1267,16 @@ MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric carcinoma of liver cell pediatric carcinoma of liver cell Pediatric Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric carcinoma of liver cell NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric hepatoma pediatric hepatoma Pediatric Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric hepatoma NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric liver cell carcinoma pediatric liver cell carcinoma Pediatric Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric liver cell carcinoma NCIT:C7955 -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7955 hepatocellular cancer NCIT:C7956 MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploid syndrome triploid syndrome Triploid Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 triploid syndrome NCIT:C85204 MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy syndrome triploidy syndrome Triploidy Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 triploidy syndrome NCIT:C85204 MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasNarrowSynonym active tuberculosis active tuberculosis Active Tuberculosis NCIT:C3423 Tuberculosis NCIT:C3423 active tuberculosis NCIT:C3423 MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym TB NCIT:C3423 Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007827 TB NCIT:C3423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malignant soft tissue tumor malignant soft tissue tumor Malignant Soft Tissue Tumor NCIT:C4867 Malignant Soft Tissue Neoplasm Orphanet:3394 malignant soft tissue tumor NCIT:C4867 -MONDO:0018087 viral hemorrhagic fever oio:hasExactSynonym oio:hasBroadSynonym hemorrhagic fever hemorrhagic fever Hemorrhagic Fever NCIT:C36169 Hemorrhagic Fever ORCID:0000-0002-6315-0263, https://medlineplus.gov/hemorrhagicfevers.html hemorrhagic fever NCIT:C36169 MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym oio:hasRelatedSynonym Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome GARD:0007862 Vogt-Koyanagi-Harada syndrome NCIT:C85218 MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood EBV-positive T-cell lymphoproliferative disorder of childhood EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood NCIT:C80373 EBV-Positive T-Cell/NK-Cell Lymphoproliferative Disorder of Childhood DOID:0070324 EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80373 -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema Multiforme Major NCIT:C3385 Erythema Multiforme Major NCIT:C79484 erythema multiforme major NCIT:C3385 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH NCIT:C3107 Langerhans Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 LCH NCIT:C3107 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:OIMT immature teratoma NCIT:C4286 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-Pancreatic Cancer Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome Orphanet:404560 melanoma-pancreatic cancer syndrome NCIT:C176904 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenal hyperplasia adrenal hyperplasia Adrenal Hyperplasia NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenal hyperplasia NCIT:C34360 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital disorder adrenogenital disorder Adrenogenital Disorder NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenogenital disorder NCIT:C34360 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital Syndrome NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenogenital syndrome NCIT:C34360 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm DOID:7235 pancreatic mucinous cystic neoplasm NCIT:C41247 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma Orphanet:424053 pancreatic mucinous cystadenocarcinoma NCIT:C5713 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of pancreas colloid cystadenoma of pancreas Colloid Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloid cystadenoma of pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of the pancreas colloid cystadenoma of the pancreas Colloid Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloid cystadenoma of the pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloidal cystadenoma of pancreas colloidal cystadenoma of pancreas Colloidal Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloidal cystadenoma of pancreas NCIT:C5718 @@ -1933,7 +1284,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelated MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenoma of the pancreas mucinous cystadenoma of the pancreas Mucinous Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 mucinous cystadenoma of the pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma pancreatic colloid cystadenoma Pancreatic Colloid Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 pancreatic colloid cystadenoma NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloidal cystadenoma pancreatic colloidal cystadenoma Pancreatic Colloidal Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 pancreatic colloidal cystadenoma NCIT:C5718 -MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid Pseudopapillary Neoplasm of the Pancreas NCIT:C37212 Solid Pseudopapillary Neoplasm of the Pancreas Orphanet:424065 solid pseudopapillary neoplasm of the pancreas NCIT:C37212 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of liver NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver and intrahepatic biliary tract cancer of liver and intrahepatic biliary tract Cancer of Liver and Intrahepatic Biliary Tract NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of liver and intrahepatic biliary tract NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of the liver cancer of the liver Cancer of the Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of the liver NCIT:C7927 @@ -1942,43 +1292,20 @@ MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSyno MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma NCIT:C7927 liver cancer NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma ORCID:0000-0002-6601-2165 liver carcinoma NCIT:C7927 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome NCIT:C116917 Marshall syndrome NCIT:C116917 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome NCIT:C116917 Marshall syndrome NCIT:C128115 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis diffuse sclerosis Diffuse Sclerosis NCIT:C72070 Systemic Scleroderma DOID:10588 diffuse sclerosis NCIT:C72070 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism hypogonadotropism Hypogonadotropism NCIT:C9227 Hypogonadism MONDO:0004228 hypogonadotropism NCIT:C9227 MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis familial amyloidosis Familial Amyloidosis NCIT:C84555 Familial Amyloidosis GARD:0006611 familial amyloidosis NCIT:C84555 MONDO:0018715 congenital hemangioma oio:hasExactSynonym oio:hasRelatedSynonym congenital angioma congenital angioma Congenital Angioma NCIT:C3841 Congenital Hemangioma NCIT:C3841 congenital angioma NCIT:C3841 MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym benign mucous membrane pemphigoid benign mucous membrane pemphigoid Benign Mucous Membrane Pemphigoid NCIT:C34907 Benign Mucous Membrane Pemphigoid DOID:11656, GARD:0005913 benign mucous membrane pemphigoid NCIT:C34907 MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating Thoracic Dystrophy NCIT:C84794 Jeune Syndrome DOID:0050592 asphyxiating thoracic dystrophy NCIT:C84794 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid Hyperplasia with Eosinophilia NCIT:C4298 Epithelioid Hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia NCIT:C4298 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:BEC embryonal carcinoma NCIT:C3752 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 Lawrence-Seip syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital Generalized Lipodystrophy NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 congenital generalized lipodystrophy NCIT:C84594 MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma NCIT:C2964 cystoma NCIT:C2964 -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma NCIT:C2964 cystoma NCIT:C2972 MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism NCIT:C2969 Cushing Syndrome Orphanet:553 hypercortisolism NCIT:C2969 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic Fibrous Dysplasia NCIT:C34610 Polyostotic Fibrous Dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia NCIT:C34610 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis Type IIIA NCIT:C84897 Mucopolysaccharidosis Type IIIA DOID:12801 mucopolysaccharidosis type IIIA NCIT:C84897 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis Type IIIB NCIT:C84898 Mucopolysaccharidosis Type IIIB DOID:12801 mucopolysaccharidosis type IIIB NCIT:C84898 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis Type IVA NCIT:C84901 Mucopolysaccharidosis Type IVA DOID:12804 mucopolysaccharidosis type IVA NCIT:C84901 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis Type IVB NCIT:C84902 Mucopolysaccharidosis Type IVB DOID:12804 mucopolysaccharidosis type IVB NCIT:C84902 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform Mole NCIT:C3110 Hydatidiform Mole DOID:3590 hydatidiform mole NCIT:C3110 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar Pregnancy NCIT:C3110 Hydatidiform Mole NCIT:C3110, DOID:3590 molar pregnancy NCIT:C3110 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans NCIT:C122789 Myotonia Fluctuans OMIM:608390 Myotonia Fluctuans NCIT:C122789 MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis NCIT:C34842 Alport Syndrome NCIT:C34842, DOID:10983 hereditary nephritis NCIT:C34842 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease Von Recklinghausen Disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 neurofibromatosis NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis Type 1 Microdeletion Syndrome NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome NCIT:C3273 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis NCIT:C3273 neurofibromatosis NCIT:C6727 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor Orphanet:654 Wilms tumor NCIT:C27730 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym childhood renal Wilms tumor childhood renal Wilms tumor Childhood Renal Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor DOID:2154 childhood renal Wilms tumor NCIT:C27730 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor Orphanet:654 Wilms tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor Orphanet:654 Wilms tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor NCIT:C40407 Wilms' tumor NCIT:C3267 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym embryonal nephroma embryonal nephroma Embryonal Nephroma NCIT:C40407 Kidney Wilms Tumor NCIT:C40407 embryonal nephroma NCIT:C40407 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym nonanaplastic renal Wilm's tumor nonanaplastic renal Wilm's tumor Nonanaplastic Renal Wilm's Tumor NCIT:C6951 Nonanaplastic Kidney Wilms Tumor DOID:5176 nonanaplastic renal Wilm's tumor NCIT:C6951 -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism GARD:0003947 congenital hyperinsulinism NCIT:C131425 -MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C98997 eventration NCIT:C84725 MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C98997 eventration NCIT:C98997 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym broken-heart syndrome broken-heart syndrome Broken-heart Syndrome NCIT:C85181 Takotsubo Cardiomyopathy GARD:0009400 broken-heart syndrome NCIT:C85181 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym malignant osteopetrosis malignant osteopetrosis Malignant Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis NCIT:C129733 malignant osteopetrosis NCIT:C129733 @@ -1987,49 +1314,34 @@ MONDO:0019050 inherited hemoglobinopathy oio:hasExactSynonym oio:hasRelatedSynon MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513, DOID:1107 cancer of esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of the esophagus cancer of the esophagus Cancer of the Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513 cancer of the esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma NCIT:C3513 esophageal cancer NCIT:C3513 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma Orphanet:70567 bile duct cancer NCIT:C27814 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C35417 Intrahepatic Cholangiocarcinoma NCIT:C4436 intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C35417 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma NCIT:C4436 intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 -MONDO:0019095 plague oio:hasExactSynonym oio:hasBroadSynonym Yersiniosis NCIT:C128337 Yersiniosis Orphanet:707 Yersiniosis NCIT:C128337 MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome Devic syndrome Devic Syndrome NCIT:C84934 Neuromyelitis Optica GARD:0006267 Devic syndrome NCIT:C84934 MONDO:0019104 Sandifer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sandifer's syndrome Sandifer's syndrome Sandifer's Syndrome NCIT:C113397 Sandifer's Syndrome GARD:0009684 Sandifer's syndrome NCIT:C113397 -MONDO:0019134 central neurocytoma oio:hasExactSynonym oio:hasRelatedSynonym CNC NCIT:C4705 Carney Complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CNC CNC NCIT:C4705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal Acid Lipase Deficiency NCIT:C61271 Wolman Disease NCIT:C61271 lysosomal acid lipase deficiency NCIT:C61271 -MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym pseudohypoaldosteronism type I autosomal recessive pseudohypoaldosteronism type I autosomal recessive Pseudohypoaldosteronism Type I Autosomal Recessive NCIT:C123251 Pseudohypoaldosteronism Type 1 NCIT:C123251 pseudohypoaldosteronism type I autosomal recessive NCIT:C123251 MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym PHA1B NCIT:C123251 Pseudohypoaldosteronism Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C123251 PHA1B NCIT:C123251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome Gordon Syndrome NCIT:C123252 Pseudohypoaldosteronism Type 2 NCIT:C123252 Gordon syndrome NCIT:C123252 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder Zellweger spectrum disorder Zellweger Spectrum Disorder NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder NCIT:C146639 MONDO:0019402 beta thalassemia oio:hasExactSynonym oio:hasRelatedSynonym thalassemia major thalassemia major Thalassemia Major NCIT:C34375 Beta Thalassemia NCIT:C34375 thalassemia major NCIT:C34375 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma NCIT:C6912 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma NCIT:C6912 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic juvenile idiopathic arthritis systemic juvenile idiopathic arthritis Systemic Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 systemic juvenile idiopathic arthritis NCIT:C119031 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic onset juvenile idiopathic arthritis systemic onset juvenile idiopathic arthritis Systemic Onset Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 systemic onset juvenile idiopathic arthritis NCIT:C119031 MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym enthesitis-related arthritis enthesitis-related arthritis Enthesitis-Related Arthritis NCIT:C119024 Enthesitis-Related Arthritis GARD:0010969 enthesitis-related arthritis NCIT:C119024 -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary Systemic Amyloidosis NCIT:C8299 Primary Systemic Amyloidosis GARD:0005797 primary systemic amyloidosis NCIT:C8299 -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed Phenotype Acute Leukemia NCIT:C82179 Mixed Phenotype Acute Leukemia Orphanet:86851 mixed phenotype acute leukemia NCIT:C82179 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 HTLV-1 associated adult T-cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I Associated Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 HTLV-I associated adult T-cell leukemia/lymphoma NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T cell lymphoma/leukemia adult T cell lymphoma/leukemia Adult T Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-cell lymphoma/leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T-cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T-cell lymphoma/leukemia NCIT:C3184 -MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LCS LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome DOID:3491 Bonnevie-Ullrich syndrome NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ullrich-Turner syndrome Ullrich-Turner syndrome Ullrich-Turner Syndrome NCIT:C26900 Turner Syndrome GARD:0007831 Ullrich-Turner syndrome NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C26900 Turner Syndrome NCIT:C26900 gonadal dysgenesis NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X NCIT:C26900 Turner Syndrome DOID:3491, NCIT:C36630 monosomy X NCIT:C26900 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome DOID:3491 Bonnevie-Ullrich syndrome NCIT:C34434 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C61420 Gonadal Dysgenesis NCIT:C26900 gonadal dysgenesis NCIT:C61420 MONDO:0019530 non-syndromic syndactyly oio:hasExactSynonym oio:hasRelatedSynonym syndactyly syndactyly Syndactyly NCIT:C87125 Syndactyly MONDO:ambiguous syndactyly NCIT:C87125 MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym oio:hasRelatedSynonym warm antibody autoimmune hemolytic anemia warm antibody autoimmune hemolytic anemia Warm Antibody Autoimmune Hemolytic Anemia NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia GARD:0007876 warm antibody autoimmune hemolytic anemia NCIT:C162611 MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid Lupus Erythematosus NCIT:C117112 Lupus Erythematosus Tumidus GARD:0013003 tumid lupus erythematosus NCIT:C117112 MONDO:0019563 CREST syndrome oio:hasExactSynonym oio:hasBroadSynonym lcSSc NCIT:C70646 CREST Syndrome NCIT:C70646 lcSSc NCIT:C70646 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Ii Ehlers-Danlos syndrome, type Ii Ehlers-Danlos Syndrome, Type II NCIT:C125697 Ehlers-Danlos Syndrome, Type II OMIM:130010 Ehlers-Danlos syndrome, type Ii NCIT:C125697 MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Cockayne syndrome type A Cockayne syndrome type A Cockayne Syndrome Type A NCIT:C135725 Cockayne Syndrome Type A GARD:0001415 Cockayne syndrome type A NCIT:C135725 -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor Orphanet:913 gastrinoma NCIT:C3050 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Unicentric Castleman disease Unicentric Castleman Disease NCIT:C115200 Unicentric Castleman Disease GARD:0006005 Unicentric Castleman disease NCIT:C115200 MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym TTTS NCIT:C113824 Twin-Twin Transfusion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000325 TTTS NCIT:C113824 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome Lyell Syndrome NCIT:C79777 Toxic Epidermal Necrolysis NCIT:C79777 Lyell syndrome NCIT:C79777 @@ -2037,21 +1349,15 @@ MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynony MONDO:0019903 ring chromosome 2 oio:hasExactSynonym oio:hasRelatedSynonym R2 NCIT:C121981 ROSE Cluster 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010837 R2 NCIT:C121981 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019904 ring chromosome 3 oio:hasExactSynonym oio:hasRelatedSynonym R3 NCIT:C121982 ROSE Cluster 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010839 R3 NCIT:C121982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019928 48,XXXY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXXY syndrome XXXY syndrome XXXY Syndrome NCIT:C89799 XXXY Syndrome GARD:0005676 XXXY syndrome NCIT:C89799 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome WDHA syndrome WDHA Syndrome NCIT:C3488 WDHA Syndrome Orphanet:97282 WDHA syndrome NCIT:C3488 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera pancreatic cholera Pancreatic Cholera NCIT:C3488 WDHA Syndrome GARD:0003787, Orphanet:97282 pancreatic cholera NCIT:C3488 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym watery diarrhea, hypokalemia, and achlorhydria syndrome watery diarrhea, hypokalemia, and achlorhydria syndrome Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome NCIT:C3488 WDHA Syndrome GARD:0003787 watery diarrhea, hypokalemia, and achlorhydria syndrome NCIT:C3488 -MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified NCIT:C27350, DOID:2226 CMPD, U NCIT:C27350 MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym chronic myeloproliferative disorders chronic myeloproliferative disorders Chronic Myeloproliferative Disorders NCIT:C4345 Myeloproliferative Neoplasm GARD:0009319 chronic myeloproliferative disorders NCIT:C4345 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AV septal defect AV septal defect AV Septal Defect NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 AV septal defect NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular Septal Defect NCIT:C101029 Atrioventricular Septal Defect Orphanet:98722 atrioventricular septal defect NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common AV canal common AV canal Common AV Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 common AV canal NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common atrioventricular canal common atrioventricular canal Common Atrioventricular Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 common atrioventricular canal NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect endocardial cushion defect Endocardial Cushion Defect NCIT:C101029 Atrioventricular Septal Defect DOID:0050651 endocardial cushion defect NCIT:C101029 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal (thymic) large B-cell lymphoma primary mediastinal (thymic) large B-cell lymphoma Primary Mediastinal (Thymic) Large B-Cell Lymphoma NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma ONCOTREE:PMBL primary mediastinal (thymic) large B-cell lymphoma NCIT:C9280 MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP NCIT:C3721 Lymphomatoid Papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP LYP NCIT:C3721 MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired Pure Red Cell Aplasia NCIT:C70548 Acquired Pure Red Cell Aplasia GARD:0010898 acquired pure red cell aplasia NCIT:C70548 -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma primary congenital glaucoma Primary Congenital Glaucoma NCIT:C150251 Primary Congenital Glaucoma Orphanet:98976 primary congenital glaucoma NCIT:C150251 MONDO:0020479 pituitary gigantism oio:hasExactSynonym oio:hasRelatedSynonym gigantism gigantism Gigantism NCIT:C93046 Gigantism GARD:0006506 gigantism NCIT:C93046 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B cell acute lymphocytic leukemia B cell acute lymphocytic leukemia B Cell Acute Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 B cell acute lymphocytic leukemia NCIT:C8644 @@ -2062,21 +1368,16 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B cell lymphocytic leukemia acute B cell lymphocytic leukemia Acute B Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 acute B cell lymphocytic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B-cell lymphocytic leukemia acute B-cell lymphocytic leukemia Acute B-Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 acute B-cell lymphocytic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL NCIT:C8644 B Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 B-ALL NCIT:C8644 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C9140 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C9143 MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma NCIT:C3072 Ovarian Gynandroblastoma GARD:0009665 Gynandroblastoma NCIT:C3072 MONDO:0020546 acute graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym acute GVHD acute GVHD Acute GVHD NCIT:C4980 Acute Graft Versus Host Disease GARD:0006544 acute GVHD NCIT:C4980 MONDO:0020547 chronic graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym chronic GVHD chronic GVHD Chronic GVHD NCIT:C4981 Chronic Graft Versus Host Disease GARD:0010964 chronic GVHD NCIT:C4981 -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid Tumor Predisposition Syndrome NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome DOID:2129 rhabdoid tumor predisposition syndrome NCIT:C93268 MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym angiokeratoma of fordyce angiokeratoma of fordyce Angiokeratoma of Fordyce NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 angiokeratoma of fordyce NCIT:C7752 MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym fordyce angiokeratoma fordyce angiokeratoma Fordyce Angiokeratoma NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 fordyce angiokeratoma NCIT:C7752 -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma NCIT:C4051 meningioma, malignant NCIT:C38938 -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 +MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym acute Bronchiolitis acute Bronchiolitis Acute Bronchiolitis NCIT:C39659 Acute Bronchiolitis NCIT:C39659 acute Bronchiolitis NCIT:C39659 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSMC1 NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601776 EDSMC1 NCIT:C168975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020689 AIDS dementia complex oio:hasExactSynonym oio:hasRelatedSynonym AIDS Dementia NCIT:C2864 AIDS Dementia NCIT:C2864 AIDS Dementia NCIT:C2864 -MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C3058 Glioblastoma NCIT:C9094 glioblastoma NCIT:C3058 MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma NCIT:C9094 glioblastoma NCIT:C9094 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym oio:hasBroadSynonym BAD NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS NCIT:C133085 BAD NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020725 anemia due to chronic disorder oio:hasExactSynonym oio:hasRelatedSynonym anemia due to Chronic Disorder anemia due to Chronic Disorder Anemia due to Chronic Disorder NCIT:C35659 Anemia due to Chronic Disorder NCIT:C35659 anemia due to Chronic Disorder NCIT:C35659 @@ -2084,7 +1385,6 @@ MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbo MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbovirus infection Arbovirus infection Arbovirus Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 Arbovirus infection NCIT:C34396 MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection NCIT:C34396 MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-borne viral infection Arthropod-borne viral infection Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 Arthropod-borne viral infection NCIT:C34396 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 oio:hasExactSynonym oio:hasBroadSynonym EDA-ID EDA-Id EDA-ID NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300291 EDA-ID NCIT:C118844 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda equina syndrome with neurogenic bladder Cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder UMLS:C0007459 Cauda equina syndrome with neurogenic bladder NCIT:C34453 MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym oio:hasRelatedSynonym Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea MESH:D002559, NCIT:C84627 Cerebrospinal Fluid Rhinorrhea NCIT:C84627 @@ -2110,17 +1410,13 @@ MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary persistence of fetal hemoglobin Hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin UMLS:C0019025 Hereditary persistence of fetal hemoglobin NCIT:C129072 MONDO:0021032 herpes zoster with dermatitis of eyelid oio:hasExactSynonym oio:hasRelatedSynonym Herpes Zoster Dermatitis of Eyelid NCIT:C34696 Herpes Zoster Dermatitis of Eyelid NCIT:C34696 Herpes Zoster Dermatitis of Eyelid NCIT:C34696 -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor extraosseous Ewing's tumor Extraosseous Ewing's Tumor NCIT:C7135 Extraskeletal Ewing Sarcoma DOID:4985, NCIT:C7135 extraosseous Ewing's tumor NCIT:C7135 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body chemodectoma carotid body chemodectoma Carotid Body Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body chemodectoma NCIT:C2932 -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid Body Tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 chemodectoma NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym paraganglioma of the carotid body paraganglioma of the carotid body Paraganglioma of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 paraganglioma of the carotid body NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of carotid body tumor of carotid body Tumor of Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 tumor of carotid body NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of the carotid body tumor of the carotid body Tumor of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 tumor of the carotid body NCIT:C2932 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym oio:hasNarrowSynonym neurofibromatosis type 2 neurofibromatosis type 2 Neurofibromatosis Type 2 NCIT:C3274 Neurofibromatosis Type 2 DOID:8712 neurofibromatosis type 2 NCIT:C3274 -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Glomus tumor Glomus tumor Glomus Tumor NCIT:C3060 Glomus Tumor GARD:0010599 Glomus tumor NCIT:C3060 -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm endocrine neoplasm Endocrine Neoplasm NCIT:C3010 Endocrine Neoplasm DOID:170 endocrine neoplasm NCIT:C3010 MONDO:0021070 sublingual gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma NCIT:C8397 sublingual gland cancer NCIT:C8397 MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of visual system disorder of visual system Disorder of Visual System NCIT:C35126 Vision Disorder NCIT:C35126 disorder of visual system NCIT:C35126 MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasRelatedSynonym visual Field disorder visual Field disorder Visual Field Disorder NCIT:C35126 Vision Disorder NCIT:C35126 visual Field disorder NCIT:C35126 @@ -2131,18 +1427,14 @@ MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tum MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor Appendiceal L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor NCIT:C27445 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell NET appendix L-cell NET Appendix L-Cell NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendix L-cell NET NCIT:C27445 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell glucagon-like peptide-producing NET appendix L-cell glucagon-like peptide-producing NET Appendix L-Cell Glucagon-Like Peptide-Producing NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendix L-cell glucagon-like peptide-producing NET NCIT:C27445 -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute Respiratory Failure NCIT:C27043 Acute Respiratory Failure NCIT:C27043, DOID:11162 acute respiratory failure NCIT:C27043 MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos microphthalmos Microphthalmos NCIT:C98989 Microphthalmos DOID:10629 microphthalmos NCIT:C98989 MONDO:0021165 Paget disease oio:hasExactSynonym oio:hasBroadSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease NCIT:C7073 Paget cell neoplasm NCIT:C7073 MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis NCIT:C34697 MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic vulvovaginitis Herpetic vulvovaginitis Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis UMLS:C0019386 Herpetic vulvovaginitis NCIT:C34697 MONDO:0021190 DNA repair disease oio:hasExactSynonym oio:hasRelatedSynonym DNA repair deficiency DNA repair deficiency DNA Repair Deficiency NCIT:C7757 DNA Repair Disorder MESH:D049914 DNA repair deficiency NCIT:C7757 -MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar duct papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 -MONDO:0021316 malignant tumor of minor salivary gland oio:hasExactSynonym oio:hasRelatedSynonym minor salivary gland cancer minor salivary gland cancer Minor Salivary Gland Cancer NCIT:C5957 Minor Salivary Gland Carcinoma MONDO:patterns/location minor salivary gland cancer NCIT:C5957 -MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym oio:hasBroadSynonym extrahepatic bile duct cancer extrahepatic bile duct cancer Extrahepatic Bile Duct Cancer NCIT:C3860 Extrahepatic Bile Duct Carcinoma MONDO:patterns/location extrahepatic bile duct cancer NCIT:C3860 +MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 MONDO:0021329 carcinoma of soft palate oio:hasExactSynonym oio:hasBroadSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma NCIT:C8395 soft palate cancer NCIT:C8395 -MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm NCIT:C6791 parotid gland cancer NCIT:C3525 MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma NCIT:C6791 parotid gland cancer NCIT:C6791 MONDO:0021333 carcinoma of lip oio:hasExactSynonym oio:hasBroadSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma NCIT:C3490 lip cancer NCIT:C3490 MONDO:0021335 carcinoma of duodenum oio:hasExactSynonym oio:hasBroadSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma NCIT:C4803 cancer of duodenum NCIT:C4803 @@ -2155,13 +1447,9 @@ MONDO:0021337 tonsil carcinoma oio:hasExactSynonym oio:hasBroadSynonym tonsillar MONDO:0021343 carcinoma of floor of mouth oio:hasExactSynonym oio:hasBroadSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma NCIT:C9319 mouth floor cancer NCIT:C9319 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus NCIT:C34779 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus Hypertrophic lichen planus Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus UMLS:C0023649 Hypertrophic lichen planus NCIT:C34779 -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myoblastoma myoblastoma Myoblastoma NCIT:C3252 Benign Granular Cell Tumor MESH:D009379 myoblastoma NCIT:C3252 -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myofibroblastoma myofibroblastoma Myofibroblastoma NCIT:C49012 Myofibroblastoma MESH:D009379 myofibroblastoma NCIT:C49012 MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia NCIT:C34853 MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-autoimmune hemolytic anemia Non-autoimmune hemolytic anemia Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia UMLS:C0028283 Non-autoimmune hemolytic anemia NCIT:C34853 MONDO:0021562 omphalitis oio:hasExactSynonym oio:hasRelatedSynonym Omphalitis NCIT:C116008 Omphalitis GTR:AN0533760, NCIT:C116008 Omphalitis NCIT:C116008 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma DOID:3069 astrocytoma of cerebrum NCIT:C4951 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytoma NCIT:C60781 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym sexually Transmitted infection sexually Transmitted infection Sexually Transmitted Infection NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 sexually Transmitted infection NCIT:C3365 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym venereal disease venereal disease Venereal Disease NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 venereal disease NCIT:C3365 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym STI NCIT:C3365 Sexually Transmitted Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D012749 STI NCIT:C3365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2203,7 +1491,6 @@ MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym G MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva NCIT:C3881 MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of gingiva Leukoplakia of gingiva Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva UMLS:C0239737 Leukoplakia of gingiva NCIT:C3881 MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C118816 bladder cancer NCIT:C118816 -MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C118816 bladder cancer NCIT:C4912 MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus NCIT:C3937 MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-neoplastic nevus Non-neoplastic nevus Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus UMLS:C0265027 Non-neoplastic nevus NCIT:C3937 MONDO:0022993 dipsogenic diabetes insipidus oio:hasExactSynonym oio:hasBroadSynonym primary polydipsia primary polydipsia Primary Polydipsia NCIT:C129735 Dipsogenic Diabetes Insipidus GARD:0010703, NCIT:C129735 primary polydipsia NCIT:C129735 @@ -2240,12 +1527,8 @@ MONDO:0023628 levator syndrome oio:hasExactSynonym oio:hasRelatedSynonym proctal MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma NCIT:C8428 MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic paraganglioma Tympanic paraganglioma Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma UMLS:C0474820 Tympanic paraganglioma NCIT:C8428 MONDO:0024239 congenital anomaly of cardiovascular system oio:hasExactSynonym oio:hasRelatedSynonym congenital cardiovascular disorder congenital cardiovascular disorder Congenital Cardiovascular Disorder NCIT:C35729 Congenital Cardiovascular Abnormality congenital cardiovascular disorder NCIT:C35729 -MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma Wikipedia:Hidradenocarcinoma hidradenocarcinoma NCIT:C54664 MONDO:0024275 amebic dysentery oio:hasExactSynonym oio:hasRelatedSynonym amebic colitis amebic colitis Amebic Colitis NCIT:C34558 Amebic Colitis MESH:D004404 amebic colitis NCIT:C34558 MONDO:0024287 congenital vascular malformation oio:hasExactSynonym oio:hasBroadSynonym vascular malformation vascular malformation Vascular Malformation NCIT:C112117 Vascular Malformation NCIT:C112117 vascular malformation NCIT:C112117 -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets MESH:D063730 hypophosphatemic vitamin D-resistant rickets NCIT:C85234 -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym vitamin D-resistant rickets vitamin D-resistant rickets Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#DEPRECATED MESH:D063730 vitamin D-resistant rickets NCIT:C85234 -MONDO:0024330 infectious otitis media oio:hasExactSynonym oio:hasBroadSynonym otitis media otitis media Otitis Media NCIT:C34885 Otitis Media NCIT:C84354 otitis media NCIT:C34885 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of large bowel NCIT:C2955 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of large intestine NCIT:C2955 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of the large bowel NCIT:C2955 @@ -2257,9 +1540,6 @@ MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large MONDO:0024422 auditory perceptual disorders oio:hasExactSynonym oio:hasNarrowSynonym auditory perceptual disorder auditory perceptual disorder Auditory Perceptual Disorder NCIT:C84575 Auditory Perceptual Disorder MESH:D001308 auditory perceptual disorder NCIT:C84575 MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIL sil SIL NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 SIL NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIN NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 SIN NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade high grade NCIT:C14158 -MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade high grade NCIT:C14158 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NET NCIT:C95404 Digestive System Neuroendocrine Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 GEP-NET NCIT:C95404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bulbar palsy, progressive, with sensorineural deafness bulbar palsy, progressive, with sensorineural deafness Bulbar Palsy, Progressive, with Sensorineural Deafness NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 OMIM:211530 bulbar palsy, progressive, with sensorineural deafness NCIT:C133724 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530 BVVLS1 NCIT:C133724 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 NCIT:C161005 Familial Focal Epilepsy with Variable Foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 FFEVF1 NCIT:C161005 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2267,19 +1547,8 @@ MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasR MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD1 NCIT:C132224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024574 von Willebrand disease (hereditary or acquired) oio:hasExactSynonym oio:hasRelatedSynonym von Willebrand disease von Willebrand disease von Willebrand Disease NCIT:C68677 von Willebrand Disease von Willebrand disease NCIT:C68677 MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma NCIT:C3778 serous adenocarcinoma NCIT:C3778 -MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma NCIT:C3778 serous adenocarcinoma NCIT:C40101 -MONDO:0024647 urolithiasis oio:hasExactSynonym oio:hasBroadSynonym kidney stone kidney stone Kidney Stone NCIT:C114667 Nephrolithiasis kidney stone NCIT:C114667 -MONDO:0024674 Pancoast syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pancoast tumor Pancoast tumor Pancoast Tumor NCIT:C7527 Malignant Superior Sulcus Neoplasm MESH:D010178 Pancoast tumor NCIT:C7527 MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C27730 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C3267 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C3267 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor NCIT:C27730 kidney Wilms tumor NCIT:C40407 -MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym beta cell tumor beta cell tumor Beta Cell Tumor NCIT:C3140 Pancreatic Insulin-Producing Neuroendocrine Tumor MESH:D007340 beta cell tumor NCIT:C3140 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 tenosynovial giant cell tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 tenosynovial giant cell tumor NCIT:C3402 -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C3473 MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C42080 -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C8568 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym oio:hasBroadSynonym clitoral cancer clitoral cancer Clitoral Cancer NCIT:C9362 Clitoral Carcinoma NCIT:C9362 clitoral cancer NCIT:C9362 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor amyloid tumor Amyloid Tumor NCIT:C8323 Amyloid Tumor DOID:6755 amyloid tumor NCIT:C8323 MONDO:0027026 Buschke Lowenstein tumor oio:hasExactSynonym oio:hasRelatedSynonym Buschke-Lowenstein tumor Buschke-Lowenstein tumor Buschke-Lowenstein Tumor NCIT:C6371 Giant Condyloma Acuminatum MESH:D062688 Buschke-Lowenstein tumor NCIT:C6371 @@ -2297,8 +1566,6 @@ MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:h MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD7 NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618546 TTD7 NCIT:C173102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NOONAN SYNDROME 12 NOONAN SYNDROME 12 Noonan Syndrome 12 NCIT:C177120 Noonan Syndrome 12 OMIM:618624 NOONAN SYNDROME 12 NCIT:C177120 MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NS12 NCIT:C177120 Noonan Syndrome 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618624 NS12 NCIT:C177120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0042233 disseminated candidiasis oio:hasExactSynonym oio:hasRelatedSynonym invasive candidiasis invasive candidiasis Invasive Candidiasis NCIT:C116813 Invasive Candidiasis invasive candidiasis NCIT:C116813 -MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis NCIT:C26700 septic arthritis NCIT:C26699 MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis NCIT:C26700 septic arthritis NCIT:C26700 MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML oio:hasExactSynonym oio:hasNarrowSynonym GATA2 deficiency/MonoMac syndrome NCIT:C126349 GATA2 Deficiency NCIT:C126349 GATA2 deficiency/MonoMac syndrome NCIT:C126349 MONDO:0042983 neurocutaneous syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phacomatosis NCIT:C84348 Phakomatosis MESH:D020752 Phacomatosis NCIT:C84348 @@ -2311,18 +1578,11 @@ MONDO:0043544 nosocomial infection oio:hasExactSynonym oio:hasBroadSynonym HAI MONDO:0043726 multiple organ dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym MODS NCIT:C179648 Multiple Organ Dysfunction Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D009102 MODS NCIT:C179648 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044638 hypopharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the hypopharynx squamous cell carcinoma of the hypopharynx Squamous Cell Carcinoma of the Hypopharynx NCIT:C4043 Hypopharyngeal Squamous Cell Carcinoma Orphanet:494547 squamous cell carcinoma of the hypopharynx NCIT:C4043 MONDO:0044704 oropharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the oropharynx squamous cell carcinoma of the oropharynx Squamous Cell Carcinoma of the Oropharynx NCIT:C8181 Oropharyngeal Squamous Cell Carcinoma Orphanet:500478 squamous cell carcinoma of the oropharynx NCIT:C8181 -MONDO:0044788 perihilar intrahepatic cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma ONCOTREE:PHCH perihilar cholangiocarcinoma NCIT:C36077 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 carcinoma of liver and intrahepatic biliary tract NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 liver and intrahepatic biliary tract carcinoma NCIT:C3828 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C3828 liver and intrahepatic biliary tract carcinoma NCIT:C7927 -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz nevus NCIT:C27007 Spitz Nevus OMIM:137550 spitz nevus NCIT:C27007 -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz Nevus NCIT:C27007 Spitz Nevus OMIM:137550 spitz nevus NCIT:C27007 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant Congenital Melanocytic Nevus NCIT:C4234 Giant Congenital Melanocytic Nevus GARD:0002469, Orphanet:626 giant congenital melanocytic nevus NCIT:C4234 -MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C3247 Myelodysplastic Syndrome NCIT:C68744 myelodysplastic syndrome NCIT:C3247 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome NCIT:C68744 myelodysplastic syndrome NCIT:C68744 MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C114777 -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C3708 -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C7928 MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma NCIT:C8990 oral cavity cancer NCIT:C8990 MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 cancer of oropharynx NCIT:C9105 MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the oropharynx cancer of the oropharynx Cancer of the Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 cancer of the oropharynx NCIT:C9105 @@ -2332,17 +1592,12 @@ MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the rectum cancer of the rectum Cancer of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382 cancer of the rectum NCIT:C9382 MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma NCIT:C9382 rectal cancer NCIT:C9382 MONDO:0044983 benign lipomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm NCIT:C4502 benign tumor of adipose tissue NCIT:C4502 -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 benign osseous neoplasm NCIT:C4880 -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 benign osseous tumor NCIT:C4880 MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 benign osseous neoplasm NCIT:C6602 MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 benign osseous tumor NCIT:C6602 MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 osseous neoplasm NCIT:C6603 MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 osseous tumor NCIT:C6603 -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C9343 Bone Neoplasm NCIT:C6603 osseous neoplasm NCIT:C9343 -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C6603 osseous tumor NCIT:C9343 MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 oio:hasExactSynonym oio:hasRelatedSynonym NSLH2 NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617506 NSLH2 NCIT:C176940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 Tosti syndrome NCIT:C176939 -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasBroadSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054677 combined oxidative phosphorylation deficiency 33 oio:hasExactSynonym oio:hasRelatedSynonym COXPD33 NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617713 COXPD33 NCIT:C174440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym atopic dermatitis, elevated IgE, and eosinophilia atopic dermatitis, elevated IgE, and eosinophilia Atopic Dermatitis, Elevated IgE, and Eosinophilia NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 atopic dermatitis, elevated IgE, and eosinophilia NCIT:C176630 MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 11B with ATOPIC dermatitis immunodeficiency 11B with ATOPIC dermatitis Immunodeficiency 11B with Atopic Dermatitis NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 immunodeficiency 11B with ATOPIC dermatitis NCIT:C176630 @@ -2351,10 +1606,6 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome dopamine transporter deficiency syndrome Dopamine Transporter Deficiency Syndrome NCIT:C129866 Dopamine Transporter Deficiency Syndrome OMIM:613135 dopamine transporter deficiency syndrome NCIT:C129866 MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasBroadSynonym PKDYS NCIT:C129866 Dopamine Transporter Deficiency Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613135 PKDYS NCIT:C129866 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase I deficiency GTP cyclohydrolase I deficiency GTP Cyclohydrolase I Deficiency NCIT:C141442 GTP Cyclohydrolase I Deficiency Orphanet:2102 GTP cyclohydrolase I deficiency NCIT:C141442 -MONDO:0100249 46,XX testicular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym XX Male, Sry-positive XX Male, Sry-positive XX Male, SRY-Positive NCIT:C179867 46,XX Sex Reversal 1 OMIM:400045 XX Male, Sry-positive NCIT:C179867 -MONDO:0100250 46,XX sex reversal 1 oio:hasExactSynonym oio:hasBroadSynonym ovotesticular DSD ovotesticular DSD Ovotesticular DSD NCIT:C127167 Ovotesticular Differences of Sex Development OMIM:400045 ovotesticular DSD NCIT:C127167 -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym glioma glioma Glioma NCIT:C3059 Glioma Orphanet:182067 glioma NCIT:C3059 -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial Tumor NCIT:C3059 Glioma NCIT:C3059, DOID:3070 neuroglial tumor NCIT:C3059 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MMIH syndrome MMIH syndrome MMIH Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 MMIH syndrome NCIT:C98982 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 megacystis, microcolon, hypoperistalsis syndrome NCIT:C98982 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 megacystis, microcolon, intestinal hypoperistalsis syndrome NCIT:C98982 @@ -2367,4 +1618,3 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital Disorder of Deglycosylation NCIT:C126746 Congenital Disorder of Deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation NCIT:C126746 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym CDDG NCIT:C126746 Congenital Disorder of Deglycosylation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615273, MONDO:Lexical CDDG NCIT:C126746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with Vanishing White Matter NCIT:C122664 Leukoencephalopathy with Vanishing White Matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter NCIT:C122664 -MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency congenital mitral insufficiency Congenital Mitral Insufficiency NCIT:C197881 Congenital Mitral Insufficiency DOID:11502 congenital mitral insufficiency NCIT:C197881 diff --git a/src/ontology/reports/sync-synonym/omim.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/omim.synonyms.confirmed.robot.tsv index 85d53438..0f549d2f 100644 --- a/src/ontology/reports/sync-synonym/omim.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/omim.synonyms.confirmed.robot.tsv @@ -12,47 +12,24 @@ MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deleti MONDO:0000104 anemia, hypochromic microcytic with iron overload oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic, with iron overload Anemia, hypochromic microcytic, with iron overload OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic, with iron overload OMIMPS:206100 MONDO:0000118 reticulate pigment disorder oio:hasExactSynonym reticulate pigment disorders reticulate pigment disorders Reticulate pigment disorders OMIMPS:179850 Reticulate pigment disorders reticulate pigment disorders OMIMPS:179850 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies Immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 OMIM:257300 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000152 thiamine-responsive dysfunction syndrome oio:hasExactSynonym thiamine-responsive dysfunction syndrome thiamine-responsive dysfunction syndrome Thiamine-responsive dysfunction syndrome OMIMPS:249270 Thiamine-responsive dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL thiamine-responsive dysfunction syndrome OMIMPS:249270 -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst OMIM:251505 microphthalmia/coloboma 4 microphthalmia with colobomatous cyst OMIM:251505 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 hard syndrome OMIM:236670 MONDO:0000182 congenital myasthenic syndrome with tubular aggregates oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates myasthenic syndrome, congenital, with tubular aggregates Myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 MONDO:0000188 GLUT1 deficiency syndrome oio:hasExactSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL GLUT1 deficiency syndrome OMIMPS:606777 -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 Laband syndrome OMIM:135500 MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym MSSGM1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSSGM1 OMIM:616033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures oio:hasExactSynonym spinal muscular atrophy with congenital bone fractures spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with congenital bone fractures OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures spinal muscular atrophy with congenital bone fractures OMIMPS:616866 -MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, idiopathic, of infancy OMIM:143880 hypercalcemia, infantile, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED hypercalcemia, idiopathic, of infancy OMIM:143880 MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, infantile hypercalcemia, infantile Hypercalcemia, infantile OMIMPS:143880 Hypercalcemia, infantile hypercalcemia, infantile OMIMPS:143880 MONDO:0000334 multinodular goiter oio:hasExactSynonym goiter, multinodular goiter, multinodular Goiter, multinodular OMIMPS:138800 Goiter, multinodular goiter, multinodular OMIMPS:138800 -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym Ullrich scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy ullrich scleroatonic muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a Ullrich scleroatonic muscular dystrophy OMIM:254090 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym Spondylocostal Dysplasia Spondylocostal Dysplasia spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 Spondylocostal Dysplasia OMIM:122600 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 spondylocostal dysplasia OMIM:122600 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym costovertebral dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive costovertebral dysplasia OMIM:277300 MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysostosis spondylocostal dysostosis Spondylocostal dysostosis OMIMPS:277300 Spondylocostal dysostosis spondylocostal dysostosis OMIMPS:277300 MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym macular dystrophy, vitelliform macular dystrophy, vitelliform Macular dystrophy, vitelliform OMIMPS:153840 Macular dystrophy, vitelliform macular dystrophy, vitelliform OMIMPS:153840 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease polycystic liver disease OMIMPS:174050 MONDO:0000453 short QT syndrome oio:hasExactSynonym short QT syndrome short QT syndrome Short QT syndrome OMIMPS:609620 Short QT syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL short QT syndrome OMIMPS:609620 -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS OMIM:275630 chanarin-dorfman syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS OMIM:275630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome OMIMPS:300352 Cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome OMIMPS:300352 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Ochoa syndrome ochoa syndrome OMIM:236730 urofacial syndrome 1 Ochoa syndrome OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome urofacial syndrome OMIM:236730 urofacial syndrome 1 Urofacial Syndrome OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis with peculiar facial expression OMIM:236730 urofacial syndrome 1 hydronephrosis with peculiar facial expression OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 urofacial syndrome OMIM:236730 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome Urofacial Syndrome OMIMPS:236730 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome urofacial syndrome OMIMPS:236730 -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 pagetoid amyotrophic lateral sclerosis OMIM:167320 -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid neuroskeletal syndrome OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 pagetoid neuroskeletal syndrome OMIM:167320 MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia Inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym familial juvenile hyperuricemic nephropathy OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 familial juvenile hyperuricemic nephropathy OMIM:162000 -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 gouty nephropathy, familial juvenile OMIM:162000 MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym tubulointerstitial kidney disease tubulointerstitial kidney disease Tubulointerstitial kidney disease OMIMPS:162000 Tubulointerstitial kidney disease tubulointerstitial kidney disease OMIMPS:162000 -MONDO:0000700 familial hemiplegic migraine oio:hasExactSynonym FHM FHM fhm OMIM:141500 migraine, familial hemiplegic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHM OMIM:141500 -MONDO:0000723 stutter disorder oio:hasExactSynonym stammering OMIM:184450 stuttering, familial persistent, 1 stammering OMIM:184450 MONDO:0000824 congenital diarrhea oio:hasExactSynonym diarrhea, congenital diarrhea, congenital Diarrhea, congenital OMIMPS:214700 Diarrhea, congenital diarrhea, congenital OMIMPS:214700 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 mitochondrial myopathy and sideroblastic anemia OMIM:600462 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Andermann syndrome Andermann syndrome andermann syndrome OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy Andermann syndrome OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Charlevoix disease Charlevoix disease charlevoix disease OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy Charlevoix disease OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 @@ -73,35 +50,25 @@ MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:207 MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:301800 anus, imperforate anus, imperforate OMIM:301800 MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer OMIM:613659 gastric cancer gastric cancer OMIM:613659 MONDO:0001115 familial polycythemia oio:hasExactSynonym erythrocytosis, familial erythrocytosis, familial Erythrocytosis, familial OMIMPS:133100 Erythrocytosis, familial erythrocytosis, familial OMIMPS:133100 -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 Landouzy-Dejerine muscular dystrophy OMIM:158900 -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy OMIM:158900 MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy OMIMPS:158900 MONDO:0001384 myopia oio:hasExactSynonym myopia myopia Myopia OMIMPS:160700 Myopia myopia OMIMPS:160700 -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberose sclerosis OMIM:191100 tuberous sclerosis 1 tuberose sclerosis OMIM:191100 -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis complex OMIM:191100 tuberous sclerosis 1 tuberous sclerosis complex OMIM:191100 MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis tuberous sclerosis Tuberous sclerosis OMIMPS:191100 Tuberous sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tuberous sclerosis OMIMPS:191100 MONDO:0002009 major depressive disorder oio:hasExactSynonym major depressive disorder OMIM:608516 major depressive disorder major depressive disorder OMIM:608516 MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression OMIM:608516 major depressive disorder unipolar depression OMIM:608516 -MONDO:0002010 FG syndrome oio:hasExactSynonym Keller syndrome Keller syndrome keller syndrome OMIM:305450 opitz-kaveggia syndrome Keller syndrome OMIM:305450 MONDO:0002070 ventricular septal defect oio:hasExactSynonym ventricular septal defect ventricular septal defect Ventricular septal defect OMIMPS:614429 Ventricular septal defect ventricular septal defect OMIMPS:614429 -MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym GSD OMIM:137440 gerstmann-straussler disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GSD OMIM:137440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen storage disease OMIMPS:232200 Glycogen storage disease glycogen storage disease OMIMPS:232200 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones OMIM:102660 adamantinoma of long bones adamantinoma of long bones OMIM:102660 -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 Treacher Collins Syndrome OMIM:154500 -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome Treacher Collins syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 Treacher Collins syndrome OMIM:154500 MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome Treacher Collins Syndrome OMIMPS:154500 MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome Treacher Collins syndrome OMIMPS:154500 MONDO:0002474 primary hyperoxaluria oio:hasExactSynonym hyperoxaluria, primary hyperoxaluria, primary Hyperoxaluria, primary OMIMPS:259900 Hyperoxaluria, primary hyperoxaluria, primary OMIMPS:259900 MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym immunodeficiency with hyper-IgM immunodeficiency with hyper-IgM Immunodeficiency with hyper-IgM OMIMPS:308230 Immunodeficiency with hyper-IgM immunodeficiency with hyper-IgM OMIMPS:308230 MONDO:0004573 ariboflavinosis oio:hasExactSynonym riboflavin deficiency OMIM:615026 riboflavin deficiency riboflavin deficiency OMIM:615026 MONDO:0004743 hyperhomocysteinemia oio:hasExactSynonym hyperhomocysteinemia OMIM:603174 hyperhomocysteinemia hyperhomocysteinemia OMIM:603174 -MONDO:0004822 bronchiectasis oio:hasExactSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 Polynesian bronchiectasis OMIM:244400 MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm oio:hasExactSynonym celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym CLL OMIM:151400 leukemia, chronic lymphocytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLL OMIM:151400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic OMIM:603165 dermatitis, atopic dermatitis, atopic OMIM:603165 MONDO:0004980 atopic eczema oio:hasExactSynonym eczema, atopic OMIM:603165 dermatitis, atopic eczema, atopic OMIM:603165 MONDO:0004980 atopic eczema oio:hasExactSynonym ATOD ATOD atod OMIM:603165 dermatitis, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATOD OMIM:603165 -MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic dermatitis, atopic Dermatitis, atopic OMIMPS:603165 Dermatitis, atopic dermatitis, atopic OMIMPS:603165 MONDO:0004983 spermatogenic failure oio:hasExactSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure spermatogenic failure OMIMPS:258150 MONDO:0005002 chronic obstructive pulmonary disease oio:hasExactSynonym COPD OMIM:606963 pulmonary disease, chronic obstructive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COPD OMIM:606963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005081 preeclampsia oio:hasExactSynonym preeclampsia/eclampsia preeclampsia/eclampsia Preeclampsia/eclampsia OMIMPS:189800 Preeclampsia/eclampsia preeclampsia/eclampsia OMIMPS:189800 @@ -116,7 +83,6 @@ MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym noninsulin-dependent MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes mellitus OMIM:125853 type 2 diabetes mellitus type 2 diabetes mellitus OMIM:125853 MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym T2D OMIM:125853 type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION T2D OMIM:125853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005150 age-related macular degeneration oio:hasExactSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related macular degeneration, age-related OMIMPS:603075 -MONDO:0005180 Parkinson disease oio:hasExactSynonym PD OMIM:168600 parkinson disease, late-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PD OMIM:168600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease OMIMPS:168600 Parkinson disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Parkinson disease OMIMPS:168600 MONDO:0005260 autism oio:hasExactSynonym autism OMIM:209850 autism autism OMIM:209850 MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease inflammatory bowel disease Inflammatory bowel disease OMIMPS:266600 Inflammatory bowel disease inflammatory bowel disease OMIMPS:266600 @@ -125,10 +91,8 @@ MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym corneal dystroph MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias OMIMPS:300633 Hypospadias hypospadias OMIMPS:300633 MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis OMIMPS:166800 Otosclerosis otosclerosis OMIMPS:166800 MONDO:0005382 bone Paget disease oio:hasExactSynonym Paget disease of bone OMIMPS:167250 Paget disease of bone Paget disease of bone OMIMPS:167250 -MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym PBC PBC pbc OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBC OMIM:109720 MONDO:0005500 congenital disorder of glycosylation type I oio:hasExactSynonym congenital disorders of glycosylation, type I congenital disorders of glycosylation, type I Congenital disorders of glycosylation, type I OMIMPS:212065 Congenital disorders of glycosylation, type I congenital disorders of glycosylation, type I OMIMPS:212065 MONDO:0005501 congenital disorder of glycosylation type II oio:hasExactSynonym congenital disorders of glycosylation, type II congenital disorders of glycosylation, type II Congenital disorders of glycosylation, type II OMIMPS:212066 Congenital disorders of glycosylation, type II congenital disorders of glycosylation, type II OMIMPS:212066 -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym multiple cartilaginous exostoses OMIM:133700 exostoses, multiple, type 1 multiple cartilaginous exostoses OMIM:133700 MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym exostoses, multiple exostoses, multiple Exostoses, Multiple OMIMPS:133700 Exostoses, Multiple exostoses, multiple OMIMPS:133700 MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer OMIM:114500 colorectal cancer colorectal cancer OMIM:114500 MONDO:0005579 idiopathic generalized epilepsy oio:hasExactSynonym epilepsy, idiopathic generalized OMIM:600669 epilepsy, idiopathic generalized epilepsy, idiopathic generalized OMIM:600669 @@ -141,22 +105,15 @@ MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym adult lactase MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym disaccharide intolerance 3 OMIM:223100 lactose intolerance, adult type disaccharide intolerance 3 OMIM:223100 MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym hypolactasia, adult type OMIM:223100 lactose intolerance, adult type hypolactasia, adult type OMIM:223100 MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym lactose intolerance, ADULT type lactose intolerance, ADULT type lactose intolerance, adult type OMIM:223100 lactose intolerance, adult type lactose intolerance, ADULT type OMIM:223100 -MONDO:0006248 hydatidiform mole oio:hasExactSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 hydatidiform mole OMIM:231090 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant OMIM:156240 mesothelioma, malignant mesothelioma, malignant OMIM:156240 -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym hemochromatosis, hereditary OMIM:235200 hemochromatosis, type 1 hemochromatosis, hereditary OMIM:235200 MONDO:0006536 congenital generalized lipodystrophy oio:hasExactSynonym lipodystrophy, congenital generalized lipodystrophy, congenital generalized Lipodystrophy, congenital generalized OMIMPS:608594 Lipodystrophy, congenital generalized lipodystrophy, congenital generalized OMIMPS:608594 MONDO:0006602 porokeratosis oio:hasExactSynonym porokeratosis porokeratosis Porokeratosis OMIMPS:175800 Porokeratosis porokeratosis OMIMPS:175800 -MONDO:0006664 atrial septal defect oio:hasExactSynonym ASD ASD asd OMIM:108800 atrial septal defect 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASD OMIM:108800 MONDO:0006664 atrial septal defect oio:hasExactSynonym atrial septal defect atrial septal defect Atrial septal defect OMIMPS:108800 Atrial septal defect atrial septal defect OMIMPS:108800 MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym fibromuscular dysplasia of arteries OMIM:135580 fibromuscular dysplasia, arterial fibromuscular dysplasia of arteries OMIM:135580 MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym FMDA OMIM:135580 fibromuscular dysplasia, arterial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMDA OMIM:135580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym Melnick-Fraser syndrome Melnick-Fraser syndrome melnick-fraser syndrome OMIM:113650 branchiootorenal syndrome 1 Melnick-Fraser syndrome OMIM:113650 -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal dysplasia OMIM:113650 branchiootorenal syndrome 1 branchiootorenal dysplasia OMIM:113650 MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal syndrome branchiootorenal syndrome Branchiootorenal syndrome OMIMPS:113650 Branchiootorenal syndrome branchiootorenal syndrome OMIMPS:113650 MONDO:0007031 familial abdominal aortic aneurysm oio:hasExactSynonym aortic aneurysm, familial abdominal aortic aneurysm, familial abdominal Aortic aneurysm, familial abdominal OMIMPS:100070 Aortic aneurysm, familial abdominal aortic aneurysm, familial abdominal OMIMPS:100070 MONDO:0007032 prune belly syndrome oio:hasExactSynonym prune belly syndrome OMIM:100100 prune belly syndrome prune belly syndrome OMIM:100100 -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 congenital scalp defects with distal limb reduction anomalies OMIM:100300 -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AOS OMIM:100300 MONDO:0007036 Achard syndrome oio:hasExactSynonym Achard syndrome Achard syndrome achard syndrome OMIM:100700 achard syndrome Achard syndrome OMIM:100700 MONDO:0007037 Achondroplasia oio:hasExactSynonym Achondroplasia Achondroplasia achondroplasia OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Achondroplasia OMIM:100800 MONDO:0007037 Achondroplasia oio:hasExactSynonym ACH OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACH OMIM:100800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -265,8 +222,6 @@ MONDO:0007132 anonychia-ectrodactyly oio:hasExactSynonym anonychia-ectrodactyly MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly oio:hasExactSynonym anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type B and ectrodactyly OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly OMIM:106990 MONDO:0007134 Cooks syndrome oio:hasExactSynonym Cooks syndrome Cooks syndrome cooks syndrome OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cooks syndrome OMIM:106995 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym anterior segment dysgenesis 1 OMIM:107250 anterior segment dysgenesis 1 anterior segment dysgenesis 1 OMIM:107250 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym rear syndrome OMIM:107480 townes-brocks syndrome 1 rear syndrome OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 renal-ear-anal-radial syndrome OMIM:107480 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome OMIMPS:107480 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Townes-Brocks syndrome OMIMPS:107480 MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma oio:hasExactSynonym aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome OMIM:107650 apnea, obstructive sleep obstructive sleep apnea syndrome OMIM:107650 @@ -319,10 +274,6 @@ MONDO:0007184 alopecia, androgenetic, 1 oio:hasExactSynonym AGA1 OMIM:109200 MONDO:0007185 Banki syndrome oio:hasExactSynonym Banki syndrome Banki syndrome banki syndrome OMIM:109300 banki syndrome Banki syndrome OMIM:109300 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux OMIM:109350 gastroesophageal reflux gastroesophageal reflux OMIM:109350 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux disease OMIM:109350 gastroesophageal reflux gastroesophageal reflux disease OMIM:109350 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin syndrome Gorlin syndrome gorlin syndrome OMIM:109400 basal cell nevus syndrome 1 Gorlin syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin-Goltz syndrome Gorlin-Goltz syndrome gorlin-goltz syndrome OMIM:109400 basal cell nevus syndrome 1 Gorlin-Goltz syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome OMIM:109400 basal cell nevus syndrome 1 basal cell nevus syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym nevoid basal cell carcinoma syndrome OMIM:109400 basal cell nevus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nevoid basal cell carcinoma syndrome OMIM:109400 MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome basal cell nevus syndrome Basal cell nevus syndrome OMIMPS:109400 Basal cell nevus syndrome basal cell nevus syndrome OMIMPS:109400 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 MONDO:0007191 Behcet disease oio:hasExactSynonym Behcet disease OMIM:109650 Behcet syndrome Behcet disease OMIM:109650 @@ -375,8 +326,6 @@ MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym hemangiomatous b MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip pseudocleft-hemangiomatous branchial cyst syndrome OMIM:113620 branchiooculofacial syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome OMIM:113620 MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym BOFS OMIM:113620 branchiooculofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOFS OMIM:113620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 OMIM:113650 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL branchiootorenal syndrome 1 OMIM:113650 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 bullous congenital ichthyosiform erythroderma OMIM:113800 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis OMIM:113800 epidermolytic hyperkeratosis 1 epidermolytic ichthyosis OMIM:113800 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis epidermolytic hyperkeratosis Epidermolytic hyperkeratosis OMIMPS:113800 Epidermolytic hyperkeratosis epidermolytic hyperkeratosis OMIMPS:113800 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym PFHB1A OMIM:113900 progressive familial heart block, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFHB1A OMIM:113900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007241 bundle branch block, familial isolated complete right oio:hasExactSynonym bundle branch block, familial isolated complete right OMIM:113950 bundle branch block, familial isolated complete right bundle branch block, familial isolated complete right OMIM:113950 @@ -389,7 +338,6 @@ MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial o MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset oio:hasExactSynonym basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly OMIM:114150 camptobrachydactyly camptobrachydactyly OMIM:114150 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia OMIM:114290 campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia OMIM:114290 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD CMD cmd OMIM:123000 craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD OMIM:123000 MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 Gordon syndrome OMIM:114300 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym cancer, hepatocellular OMIM:114550 hepatocellular carcinoma cancer, hepatocellular OMIM:114550 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma OMIM:114550 hepatocellular carcinoma hepatocellular carcinoma OMIM:114550 @@ -465,16 +413,12 @@ MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym HMSN1A HM MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym CMT1A OMIM:118220 charcot-marie-tooth disease, demyelinating, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT1A OMIM:118220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type oio:hasExactSynonym Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease, Guadalajara neuronal type charcot-marie-tooth disease, guadalajara neuronal type OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal type Charcot-Marie-Tooth disease, Guadalajara neuronal type OMIM:118230 MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness Charcot-Marie-Tooth disease and deafness OMIM:118300 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers Charcot-Marie-Tooth disease and deafness OMIM:214370 MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism oio:hasExactSynonym Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism charcot-marie-tooth disease with ptosis and parkinsonism OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism OMIM:118301 MONDO:0007313 cheilitis glandularis oio:hasExactSynonym cheilitis glandularis OMIM:118330 cheilitis glandularis cheilitis glandularis OMIM:118330 MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas oio:hasExactSynonym chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 MONDO:0007315 cherubism oio:hasExactSynonym cherubism OMIM:118400 cherubism cherubism OMIM:118400 MONDO:0007315 cherubism oio:hasExactSynonym CRBM CRBM crbm OMIM:118400 cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRBM OMIM:118400 MONDO:0007316 Chiari malformation type I oio:hasExactSynonym Chiari malformation type 1 Chiari malformation type 1 chiari malformation type 1 OMIM:118420 chiari malformation type 1 Chiari malformation type 1 OMIM:118420 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome Alagille syndrome alagille syndrome OMIM:118450 alagille syndrome 1 Alagille syndrome OMIM:118450 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome Alagille-Watson syndrome alagille-watson syndrome OMIM:118450 alagille syndrome 1 Alagille-Watson syndrome OMIM:118450 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia Arteriohepatic dysplasia arteriohepatic dysplasia OMIM:118450 alagille syndrome 1 Arteriohepatic dysplasia OMIM:118450 MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome OMIMPS:118450 Alagille syndrome Alagille syndrome OMIMPS:118450 MONDO:0007319 chondrocalcinosis 2 oio:hasExactSynonym chondrocalcinosis 2 OMIM:118600 chondrocalcinosis 2 chondrocalcinosis 2 OMIM:118600 MONDO:0007320 chondrocalcinosis due to apatite crystal deposition oio:hasExactSynonym chondrocalcinosis due to apatite crystal deposition OMIM:118610 chondrocalcinosis due to apatite crystal deposition chondrocalcinosis due to apatite crystal deposition OMIM:118610 @@ -483,7 +427,6 @@ MONDO:0007323 Chondronectin oio:hasExactSynonym Chondronectin Chondronectin cho MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym choreoathetosis, familial inverted OMIM:118750 choreoathetosis, familial inverted choreoathetosis, familial inverted OMIM:118750 MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 MONDO:0007328 choroidal osteoma, bilateral oio:hasExactSynonym choroidal osteoma, bilateral OMIM:118865 choroidal osteoma, bilateral choroidal osteoma, bilateral OMIM:118865 -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial cirrhosis, familial OMIM:118900 MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial cirrhosis, familial OMIM:215600 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym split-hand/foot malformation with long bone deficiency 1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 split-hand/foot malformation with long bone deficiency 1 OMIM:119100 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym SHFLD1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SHFLD1 OMIM:119100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -493,8 +436,6 @@ MONDO:0007335 orofacial cleft 1 oio:hasExactSynonym OFC1 OMIM:119530 orofacia MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym CPLS syndrome CPLS syndrome cpls syndrome OMIM:119550 syngnathia CPLS syndrome OMIM:119550 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym cleft palate-lateral synechia syndrome OMIM:119550 syngnathia cleft palate-lateral synechia syndrome OMIM:119550 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate OMIM:119570 cleft soft palate cleft soft palate OMIM:119570 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 BCD syndrome OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome 1 blepharocheilodontic syndrome OMIM:119580 MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome blepharocheilodontic syndrome OMIMPS:119580 MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym cleidocranial dysostosis OMIM:119600 cleidocranial dysplasia 1 cleidocranial dysostosis OMIM:119600 MONDO:0007341 cleidorhizomelic syndrome oio:hasExactSynonym cleidorhizomelic syndrome OMIM:119650 cleidorhizomelic syndrome cleidorhizomelic syndrome OMIM:119650 @@ -534,7 +475,6 @@ MONDO:0007375 epithelial basement membrane dystrophy oio:hasExactSynonym EBMD MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym fleck corneal dystrophy OMIM:121850 corneal dystrophy, fleck fleck corneal dystrophy OMIM:121850 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym Maumenee corneal dystrophy Maumenee corneal dystrophy maumenee corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 Maumenee corneal dystrophy OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym PPCD1 Ppcd1 PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym Meesmann corneal dystrophy Meesmann corneal dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 Meesmann corneal dystrophy OMIM:122100 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy OMIM:122400 epithelial recurrent erosion dystrophy epithelial recurrent erosion dystrophy OMIM:122400 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED OMIM:122400 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERED OMIM:122400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007382 Ramos-Arroyo syndrome oio:hasExactSynonym Ramos-Arroyo syndrome Ramos-Arroyo syndrome ramos-arroyo syndrome OMIM:122430 ramos-arroyo syndrome Ramos-Arroyo syndrome OMIM:122430 @@ -543,7 +483,6 @@ MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym scoliosis, congen MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 OMIM:122600 spondylocostal dysostosis 5 spondylocostal dysostosis 5 OMIM:122600 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis OMIM:122600 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCDO5 OMIM:122600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis OMIM:277300 MONDO:0007390 coumarin resistance oio:hasExactSynonym coumarin resistance OMIM:122700 coumarin resistance coumarin resistance OMIM:122700 MONDO:0007391 coxa vara oio:hasExactSynonym coxa vara OMIM:122750 coxa vara coxa vara OMIM:122750 MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome OMIM:122780 coxoauricular syndrome coxoauricular syndrome OMIM:122780 @@ -584,9 +523,7 @@ MONDO:0007426 deafness, unilateral oio:hasExactSynonym deafness, unilateral O MONDO:0007427 deafness with anhidrotic ectodermal dysplasia oio:hasExactSynonym deafness with anhidrotic ectodermal dysplasia OMIM:125050 deafness with anhidrotic ectodermal dysplasia deafness with anhidrotic ectodermal dysplasia OMIM:125050 MONDO:0007428 deafness-craniofacial syndrome oio:hasExactSynonym deafness-craniofacial syndrome OMIM:125230 deafness-craniofacial syndrome deafness-craniofacial syndrome OMIM:125230 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy plus syndrome OMIM:258501 3-methylglutaconic aciduria, type 3 optic atrophy plus syndrome OMIM:258501 MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus OMIM:125280 dens evaginatus dens evaginatus OMIM:125280 -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym CADASIL CADASIL cadasil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CADASIL OMIM:125310 MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques oio:hasExactSynonym dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-alzheimer amyloid plaques OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques OMIM:125320 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym primary retention of teeth OMIM:125350 failure of tooth eruption, primary primary retention of teeth OMIM:125350 @@ -628,14 +565,8 @@ MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym Doyne honey MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym DHRD OMIM:126600 doyne honeycomb retinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DHRD OMIM:126600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007472 basal laminar drusen oio:hasExactSynonym basal laminar drusen OMIM:126700 basal laminar drusen basal laminar drusen OMIM:126700 MONDO:0007472 basal laminar drusen oio:hasExactSynonym drusen of Bruch membrane drusen of Bruch membrane drusen of bruch membrane OMIM:126700 basal laminar drusen drusen of Bruch membrane OMIM:126700 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 Duane syndrome OMIM:126800 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym DRS DRS drs OMIM:126800 duane retraction syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DRS OMIM:126800 MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane retraction syndrome OMIMPS:126800 Duane retraction syndrome Duane retraction syndrome OMIMPS:126800 MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction oio:hasExactSynonym duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral g-cell hyperfunction OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction duodenal ulcer due to antral G-cell hyperfunction OMIM:126840 -MONDO:0007477 3-M syndrome oio:hasExactSynonym Dolichospondylic dysplasia Dolichospondylic dysplasia dolichospondylic dysplasia OMIM:273750 three m syndrome 1 Dolichospondylic dysplasia OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym Le Merrer syndrome Le Merrer syndrome le merrer syndrome OMIM:273750 three m syndrome 1 Le Merrer syndrome OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym dolichospondylic dysplasia OMIM:273750 three m syndrome 1 dolichospondylic dysplasia OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym gloomy face syndrome OMIM:273750 three m syndrome 1 gloomy face syndrome OMIM:273750 MONDO:0007477 3-M syndrome oio:hasExactSynonym Three M Syndrome Three M Syndrome Three M syndrome OMIMPS:273750 Three M syndrome Three M Syndrome OMIMPS:273750 MONDO:0007477 3-M syndrome oio:hasExactSynonym three M syndrome three M syndrome Three M syndrome OMIMPS:273750 Three M syndrome three M syndrome OMIMPS:273750 MONDO:0007479 dwarfism, Levi type oio:hasExactSynonym dwarfism, Levi type dwarfism, Levi type dwarfism, levi type OMIM:127100 dwarfism, levi type dwarfism, Levi type OMIM:127100 @@ -818,7 +749,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym CAKUT with MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD OMIM:137920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym fibronectin glomerulopathy OMIM:601894 glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy OMIM:601894 MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym glomerulopathy with fibronectin deposits glomerulopathy with fibronectin deposits Glomerulopathy with fibronectin deposits OMIMPS:137950 Glomerulopathy with fibronectin deposits glomerulopathy with fibronectin deposits OMIMPS:137950 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym Venous malformations with glomus cells Venous malformations with glomus cells venous malformations with glomus cells OMIM:138000 glomuvenous malformations Venous malformations with glomus cells OMIM:138000 MONDO:0007673 Glucoglycinuria oio:hasExactSynonym Glucoglycinuria Glucoglycinuria glucoglycinuria OMIM:138070 glucoglycinuria Glucoglycinuria OMIM:138070 @@ -890,7 +820,6 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym HPE3 OMIM:142945 holopr MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym holoprosencephaly 4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL holoprosencephaly 4 OMIM:142946 MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym HPE4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPE4 OMIM:142946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis humeroradial synostosis OMIM:143050 -MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis humeroradial synostosis OMIM:236400 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym Humerospinal dysostosis Humerospinal dysostosis humerospinal dysostosis OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations Humerospinal dysostosis OMIM:143095 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym chondrodysplasia with multiple dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations chondrodysplasia with multiple dislocations OMIM:143095 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 @@ -909,7 +838,6 @@ MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipopr MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2a OMIM:143890 hypercholesterolemia, familial, 1 hyperlipoproteinemia, type 2A OMIM:143890 MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial, 1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypercholesterolemia, familial, 1 OMIM:143890 MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym FHCL1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHCL1 OMIM:143890 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial hypercholesterolemia, familial Hypercholesterolemia, familial OMIMPS:143890 Hypercholesterolemia, familial hypercholesterolemia, familial OMIMPS:143890 MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, familial, 2 hypercholesterolemia, familial, 2 OMIM:144010 MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, autosomal dominant, type B OMIM:144010 hypercholesterolemia, familial, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypercholesterolemia, autosomal dominant, type B OMIM:144010 MONDO:0007752 hyperheparinemia oio:hasExactSynonym hyperheparinemia OMIM:144050 hyperheparinemia hyperheparinemia OMIM:144050 @@ -1039,10 +967,6 @@ MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym hyperekplexia 1 OMIM:149400 MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym HKPX1 OMIM:149400 hyperekplexia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HKPX1 OMIM:149400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007869 Kyrle disease oio:hasExactSynonym Kyrle disease Kyrle disease kyrle disease OMIM:149500 kyrle disease Kyrle disease OMIM:149500 MONDO:0007870 labia minora, incomplete adhesion of oio:hasExactSynonym labia minora, incomplete adhesion of OMIM:149600 labia minora, incomplete adhesion of labia minora, incomplete adhesion of OMIM:149600 -MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 LACRIMOAURICULODENTODIGITAL syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym LADD syndrome LADD syndrome ladd syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 LADD syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym Levy-Hollister syndrome Levy-Hollister syndrome levy-hollister syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 Levy-Hollister syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 lacrimoauriculodentodigital syndrome OMIM:149730 MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome LACRIMOAURICULODENTODIGITAL syndrome OMIMPS:149730 MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital syndrome OMIMPS:149730 MONDO:0007873 lactic acidosis, chronic adult form oio:hasExactSynonym lactic acidosis, chronic adult form OMIM:150170 lactic acidosis, chronic adult form lactic acidosis, chronic adult form OMIM:150170 @@ -1104,7 +1028,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym Best macular MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym macular degeneration, polymorphic vitelline OMIM:153700 macular dystrophy, vitelliform, 2 macular degeneration, polymorphic vitelline OMIM:153700 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, early-onset OMIM:153700 macular dystrophy, vitelliform, 2 vitelliform macular dystrophy, early-onset OMIM:153700 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, juvenile-onset OMIM:153700 macular dystrophy, vitelliform, 2 vitelliform macular dystrophy, juvenile-onset OMIM:153700 -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD OMIM:300376 muscular dystrophy, becker type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD OMIM:300376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007932 age related macular degeneration 2 oio:hasExactSynonym ARMD2 OMIM:153800 macular degeneration, age-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMD2 OMIM:153800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007933 vitelliform macular dystrophy 1 oio:hasExactSynonym VMD1 OMIM:153840 macular dystrophy, vitelliform, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VMD1 OMIM:153840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007934 benign concentric annular macular dystrophy oio:hasExactSynonym retinitis pigmentosa 91 OMIM:153870 retinitis pigmentosa 91 retinitis pigmentosa 91 OMIM:153870 @@ -1142,7 +1065,6 @@ MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma OMIM:155255 MONDO:0007961 megalencephaly, autosomal dominant oio:hasExactSynonym megalencephaly, autosomal dominant OMIM:155350 megalencephaly, autosomal dominant megalencephaly, autosomal dominant OMIM:155350 MONDO:0007962 megalodactyly oio:hasExactSynonym Megalodactyly Megalodactyly megalodactyly OMIM:155500 macrodactyly Megalodactyly OMIM:155500 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome b-k mole syndrome OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 B-K Mole syndrome OMIM:155600 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 MONDO:0007965 melanoma, malignant familial intraocular oio:hasExactSynonym melanoma, malignant familial intraocular OMIM:155700 melanoma, malignant familial intraocular melanoma, malignant familial intraocular OMIM:155700 MONDO:0007967 melanoma and neural system tumor syndrome oio:hasExactSynonym melanoma and neural system tumor syndrome OMIM:155755 melanoma-astrocytoma syndrome melanoma and neural system tumor syndrome OMIM:155755 @@ -1215,7 +1137,6 @@ MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytope MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym myelocerebellar disorder OMIM:159550 ataxia-pancytopenia syndrome myelocerebellar disorder OMIM:159550 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis OMIM:159595 myeloproliferative syndrome, transient transient abnormal myelopoiesis OMIM:159595 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST MST mst OMIM:159595 myeloproliferative syndrome, transient http://purl.obolibrary.org/obo/mondo#ABBREVIATION MST OMIM:159595 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD OMIM:600334 tibial muscular dystrophy, tardive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD OMIM:600334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008041 myoclonic epilepsy, Hartung type oio:hasExactSynonym myoclonic epilepsy, Hartung type myoclonic epilepsy, Hartung type myoclonic epilepsy, hartung type OMIM:159600 myoclonic epilepsy, hartung type myoclonic epilepsy, Hartung type OMIM:159600 MONDO:0008046 autosomal dominant myoglobinuria oio:hasExactSynonym myoglobinuria, autosomal dominant OMIM:160010 myoglobinuria, autosomal dominant myoglobinuria, autosomal dominant OMIM:160010 MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia OMIM:160120 episodic ataxia, type 1 episodic ataxia with myokymia OMIM:160120 @@ -1226,7 +1147,6 @@ MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym CNM MONDO:0008049 myopathy, distal, infantile-onset oio:hasExactSynonym myopathy, distal, infantile-onset OMIM:160300 myopathy, distal, infantile-onset myopathy, distal, infantile-onset OMIM:160300 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym Laing distal myopathy Laing distal myopathy laing distal myopathy OMIM:160500 myopathy, distal, 1 Laing distal myopathy OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 OMIM:160500 myopathy, distal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPD1 OMIM:160500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tubular aggregate myopathy OMIM:160565 MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans oio:hasExactSynonym myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and glycosaminoglycans OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans OMIM:160570 MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym myopia 2, autosomal dominant OMIM:160700 myopia 2, autosomal dominant myopia 2, autosomal dominant OMIM:160700 MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym MYP2 OMIM:160700 myopia 2, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MYP2 OMIM:160700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1235,7 +1155,6 @@ MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym myoton MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease steinert disease OMIM:160900 myotonic dystrophy 1 Steinert disease OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica OMIM:160900 myotonic dystrophy 1 dystrophia myotonica OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym DM1 OMIM:160900 myotonic dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM1 OMIM:160900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy OMIMPS:160900 Myotonic dystrophy Myotonic Dystrophy OMIMPS:160900 MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym Carney complex, type 1 Carney complex, type 1 carney complex, type 1 OMIM:160980 carney complex, type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Carney complex, type 1 OMIM:160980 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome NFJ syndrome nfj syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome NFJ syndrome OMIM:161000 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym Naegeli syndrome Naegeli syndrome naegeli syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome Naegeli syndrome OMIM:161000 @@ -1305,10 +1224,8 @@ MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentodigital MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentoosseous dysplasia OMIM:164200 oculodentodigital dysplasia oculodentoosseous dysplasia OMIM:164200 MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym odd syndrome OMIM:164200 oculodentodigital dysplasia odd syndrome OMIM:164200 MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym Schilbach-Rott syndrome Schilbach-Rott syndrome schilbach-rott syndrome OMIM:164220 schilbach-rott syndrome Schilbach-Rott syndrome OMIM:164220 -MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym obsessive-compulsive disorder OMIM:164230 obsessive-compulsive disorder obsessive-compulsive disorder OMIM:164230 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym FGLDS1 OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FGLDS1 OMIM:164280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym muscular dystrophy, oculopharyngeal OMIM:164300 oculopharyngeal muscular dystrophy 1 muscular dystrophy, oculopharyngeal OMIM:164300 MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy OMIMPS:164300 Oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy OMIMPS:164300 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym SCA1 Sca1 SCA1 OMIM:164400 spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA1 OMIM:164400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair oio:hasExactSynonym onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 @@ -1328,7 +1245,6 @@ MONDO:0008139 OSLAM syndrome oio:hasExactSynonym OSLAM syndrome OSLAM syndrome MONDO:0008140 ossified ear cartilages oio:hasExactSynonym ossified ear cartilages OMIM:165670 ossified ear cartilages ossified ear cartilages OMIM:165670 MONDO:0008141 ossicular malformations, familial oio:hasExactSynonym ossicular malformations, familial OMIM:165680 ossicular malformations, familial ossicular malformations, familial OMIM:165680 MONDO:0008143 osteoarthritis susceptibility 1 oio:hasExactSynonym osteoarthritis susceptibility 1 OMIM:165720 osteoarthritis susceptibility 1 osteoarthritis susceptibility 1 OMIM:165720 -MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 osteochondromatosis OMIM:133700 MONDO:0008145 Ollier disease oio:hasExactSynonym Ollier disease Ollier disease ollier disease OMIM:166000 enchondromatosis, multiple, ollier type Ollier disease OMIM:166000 MONDO:0008145 Ollier disease oio:hasExactSynonym dyschondroplasia OMIM:166000 enchondromatosis, multiple, ollier type dyschondroplasia OMIM:166000 MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type osteochondromatosis OMIM:166000 @@ -1415,7 +1331,6 @@ MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym HYPP OMIM:1 MONDO:0008225 normokalemic periodic paralysis oio:hasExactSynonym normokalemic periodic paralysis OMIM:170600 normokalemic periodic paralysis normokalemic periodic paralysis OMIM:170600 MONDO:0008227 peripheral dysostosis oio:hasExactSynonym peripheral dysostosis OMIM:170700 peripheral dysostosis peripheral dysostosis OMIM:170700 MONDO:0008228 pernicious anemia oio:hasExactSynonym pernicious anemia OMIM:170900 pernicious anemia pernicious anemia OMIM:170900 -MONDO:0008228 pernicious anemia oio:hasExactSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency intrinsic factor deficiency OMIM:261000 MONDO:0008229 peroneal nerve, accessory deep oio:hasExactSynonym peroneal nerve, accessory deep OMIM:170980 peroneal nerve, accessory deep peroneal nerve, accessory deep OMIM:170980 MONDO:0008230 peroxidase, salivary oio:hasExactSynonym peroxidase, salivary OMIM:170990 peroxidase, salivary peroxidase, salivary OMIM:170990 MONDO:0008231 Peyronie disease oio:hasExactSynonym Peyronie disease Peyronie disease peyronie disease OMIM:171000 peyronie disease Peyronie disease OMIM:171000 @@ -1516,8 +1431,6 @@ MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym Pseudoachondroplastic dy MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplastic dysplasia OMIM:177170 pseudoachondroplasia pseudoachondroplastic dysplasia OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplasia OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudoachondroplasia OMIM:177170 -MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 Liddle syndrome OMIM:177200 -MONDO:0008323 Liddle syndrome oio:hasExactSynonym pseudoaldosteronism OMIM:177200 liddle syndrome 1 pseudoaldosteronism OMIM:177200 MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome Liddle syndrome OMIMPS:177200 MONDO:0008324 pseudoarthrogryposis oio:hasExactSynonym pseudoarthrogryposis OMIM:177300 pseudoarthrogryposis pseudoarthrogryposis OMIM:177300 MONDO:0008325 Pseudoatrophoderma colli oio:hasExactSynonym Pseudoatrophoderma colli Pseudoatrophoderma colli pseudoatrophoderma colli OMIM:177350 pseudoatrophoderma colli Pseudoatrophoderma colli OMIM:177350 @@ -1575,9 +1488,6 @@ MONDO:0008391 Robinow-Sorauf syndrome oio:hasExactSynonym Robinow-Sorauf syndro MONDO:0008392 Roussy-Levy syndrome oio:hasExactSynonym Roussy-levy syndrome Roussy-levy syndrome roussy-levy syndrome OMIM:180800 roussy-levy hereditary areflexic dystasia Roussy-levy syndrome OMIM:180800 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome 1 rubinstein-taybi syndrome 1 OMIM:180849 rubinstein-taybi syndrome 1 Rubinstein-Taybi syndrome 1 OMIM:180849 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym RSTS1 OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RSTS1 OMIM:180849 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver Syndrome Russell-Silver Syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 Russell-Silver Syndrome OMIM:180860 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 Russell-Silver syndrome OMIM:180860 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism silver-russell dwarfism OMIM:180860 silver-russell syndrome 1 Silver-Russell dwarfism OMIM:180860 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome OMIMPS:180860 Silver-Russell syndrome Silver-Russell syndrome OMIMPS:180860 MONDO:0008395 Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba syndrome Ruvalcaba syndrome ruvalcaba syndrome OMIM:180870 ruvalcaba syndrome Ruvalcaba syndrome OMIM:180870 MONDO:0008396 oculodental syndrome, Rutherfurd type oio:hasExactSynonym Rutherfurd syndrome Rutherfurd syndrome rutherfurd syndrome OMIM:180900 rutherfurd syndrome Rutherfurd syndrome OMIM:180900 @@ -1619,7 +1529,6 @@ MONDO:0008423 sinus node disease and myopia oio:hasExactSynonym sinus node dise MONDO:0008424 sella turcica, bridged oio:hasExactSynonym sella turcica, bridged OMIM:182200 sella turcica, bridged sella turcica, bridged OMIM:182200 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Marfanoid craniosynostosis syndrome marfanoid craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome Marfanoid craniosynostosis syndrome OMIM:182212 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:269150 MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym sister chromatid exchange, frequency of OMIM:182220 sister chromatid exchange, frequency of sister chromatid exchange, frequency of OMIM:182220 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septooptic dysplasia OMIM:182230 septooptic dysplasia septooptic dysplasia OMIM:182230 MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome OMIMPS:182250 Singleton-Merten syndrome Singleton-Merten syndrome OMIMPS:182250 @@ -1701,7 +1610,6 @@ MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSyno MONDO:0008500 striae distensae, familial oio:hasExactSynonym striae distensae, familial OMIM:185200 striae distensae, familial striae distensae, familial OMIM:185200 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber syndrome Sturge-Weber syndrome sturge-weber syndrome OMIM:185300 sturge-weber syndrome Sturge-Weber syndrome OMIM:185300 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS OMIM:601559 MONDO:0008502 sulfhemoglobinemia, congenital oio:hasExactSynonym sulfhemoglobinemia, congenital OMIM:185460 sulfhemoglobinemia, congenital sulfhemoglobinemia, congenital OMIM:185460 MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Worster-Drought syndrome worster-drought syndrome OMIM:185480 suprabulbar paresis, congenital Worster-Drought syndrome OMIM:185480 MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis OMIM:185500 supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL supravalvular aortic stenosis OMIM:185500 @@ -1720,7 +1628,6 @@ MONDO:0008519 multiple synostoses syndrome 1 oio:hasExactSynonym multiple synos MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym Liebenberg syndrome Liebenberg syndrome liebenberg syndrome OMIM:186550 liebenberg syndrome Liebenberg syndrome OMIM:186550 MONDO:0008521 tarsal-carpal coalition syndrome oio:hasExactSynonym tarsal-carpal coalition syndrome OMIM:186570 tarsal-carpal coalition syndrome tarsal-carpal coalition syndrome OMIM:186570 MONDO:0008522 synovial chondromatosis, familial, with dwarfism oio:hasExactSynonym synovial chondromatosis, familial, with dwarfism OMIM:186575 synovial chondromatosis, familial, with dwarfism synovial chondromatosis, familial, with dwarfism OMIM:186575 -MONDO:0008523 Blau syndrome oio:hasExactSynonym EOS EOS eos OMIM:131400 eosinophilia, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOS OMIM:131400 MONDO:0008523 Blau syndrome oio:hasExactSynonym Jabs syndrome Jabs syndrome jabs syndrome OMIM:186580 blau syndrome Jabs syndrome OMIM:186580 MONDO:0008523 Blau syndrome oio:hasExactSynonym arthrocutaneouveal granulomatosis OMIM:186580 blau syndrome arthrocutaneouveal granulomatosis OMIM:186580 MONDO:0008523 Blau syndrome oio:hasExactSynonym granulomatosis, familial juvenile systemic OMIM:186580 blau syndrome granulomatosis, familial juvenile systemic OMIM:186580 @@ -1786,7 +1693,6 @@ MONDO:0008579 toes, relative length of first and second oio:hasExactSynonym toe MONDO:0008580 toes, space between first and second oio:hasExactSynonym toes, space between first and second OMIM:189230 toes, space between first and second toes, space between first and second OMIM:189230 MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia oio:hasExactSynonym malposition of teeth with or without hypodontia/oligodontia OMIM:189490 malposition of teeth with or without hypodontia/oligodontia malposition of teeth with or without hypodontia/oligodontia OMIM:189490 MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym Witkop syndrome Witkop syndrome witkop syndrome OMIM:189500 witkop syndrome Witkop syndrome OMIM:189500 -MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym HND OMIM:234500 hartnup disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HND OMIM:234500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008583 inherited torticollis oio:hasExactSynonym torticollis OMIM:189600 torticollis torticollis OMIM:189600 MONDO:0008584 torus palatinus and torus mandibularis oio:hasExactSynonym torus palatinus and torus mandibularis OMIM:189700 torus palatinus and torus mandibularis torus palatinus and torus mandibularis OMIM:189700 MONDO:0008587 tracheobronchopathia osteochondroplastica oio:hasExactSynonym tracheobronchopathia osteochondroplastica OMIM:189961 tracheopathia osteoplastica tracheobronchopathia osteochondroplastica OMIM:189961 @@ -1845,7 +1751,6 @@ MONDO:0008649 venular insufficiency, systemic oio:hasExactSynonym venular insuf MONDO:0008651 vertebral hypoplasia with lumbar kyphosis oio:hasExactSynonym vertebral hypoplasia with lumbar kyphosis OMIM:192900 vertebral hypoplasia with lumbar kyphosis vertebral hypoplasia with lumbar kyphosis OMIM:192900 MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym vesicoureteral reflux 1 OMIM:193000 vesicoureteral reflux 1 vesicoureteral reflux 1 OMIM:193000 MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym VUR1 OMIM:193000 vesicoureteral reflux 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VUR1 OMIM:193000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym Vesicoureteral reflux OMIMPS:193000 Vesicoureteral reflux Vesicoureteral reflux OMIMPS:193000 MONDO:0008655 vestibulocochlear dysfunction, progressive oio:hasExactSynonym vestibulocochlear dysfunction, progressive OMIM:193005 vestibulocochlear dysfunction, progressive vestibulocochlear dysfunction, progressive OMIM:193005 MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym hypophosphatemic rickets, autosomal dominant OMIM:193100 hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal dominant OMIM:193100 MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym ADHR OMIM:193100 hypophosphatemic rickets, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADHR OMIM:193100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1915,7 +1820,6 @@ MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACLS OMIM:200990 acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACLS OMIM:200990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:200995 acrocephalopolydactylous dysplasia Elejalde syndrome OMIM:200995 MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym acrocephalopolydactylous dysplasia OMIM:200995 acrocephalopolydactylous dysplasia acrocephalopolydactylous dysplasia OMIM:200995 -MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome Elejalde syndrome OMIM:256710 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym Carpenter syndrome 1 Carpenter syndrome 1 carpenter syndrome 1 OMIM:201000 carpenter syndrome 1 Carpenter syndrome 1 OMIM:201000 MONDO:0008711 Goodman syndrome oio:hasExactSynonym ACPS 4 ACPS 4 acps 4 OMIM:201020 acrocephalopolysyndactyly type 4 ACPS 4 OMIM:201020 MONDO:0008711 Goodman syndrome oio:hasExactSynonym Goodman syndrome Goodman syndrome goodman syndrome OMIM:201020 acrocephalopolysyndactyly type 4 Goodman syndrome OMIM:201020 @@ -2030,7 +1934,6 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym arterial tortuosity syndrome OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arterial tortuosity syndrome OMIM:208050 MONDO:0008819 arteriosclerosis, severe juvenile oio:hasExactSynonym arteriosclerosis, severe juvenile OMIM:208060 arteriosclerosis, severe juvenile arteriosclerosis, severe juvenile OMIM:208060 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence OMIM:208150 fetal akinesia deformation sequence 1 fetal akinesia deformation sequence OMIM:208150 MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence fetal akinesia deformation sequence Fetal akinesia deformation sequence OMIMPS:208150 Fetal akinesia deformation sequence fetal akinesia deformation sequence OMIMPS:208150 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym Illum syndrome Illum syndrome illum syndrome OMIM:208155 illum syndrome Illum syndrome OMIM:208155 MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExactSynonym progressive pseudorheumatoid arthropathy of childhood OMIM:208230 progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL progressive pseudorheumatoid arthropathy of childhood OMIM:208230 @@ -2079,7 +1982,6 @@ MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of oio:hasExactSynony MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase 1 deficiency OMIM:210200 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 -MONDO:0008863 sitosterolemia oio:hasExactSynonym phytosterolemia OMIM:210250 sitosterolemia 1 phytosterolemia OMIM:210250 MONDO:0008863 sitosterolemia oio:hasExactSynonym sitosterolemia sitosterolemia Sitosterolemia OMIMPS:210250 Sitosterolemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sitosterolemia OMIMPS:210250 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym Bietti crystalline corneoretinal dystrophy Bietti crystalline corneoretinal dystrophy bietti crystalline corneoretinal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bietti crystalline corneoretinal dystrophy OMIM:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym BCD OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BCD OMIM:210370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2160,7 +2062,6 @@ MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz s MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome cenani-lenz syndactyly syndrome OMIM:212780 cenani-lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome OMIM:212780 MONDO:0008932 premature centromere division oio:hasExactSynonym premature centromere division OMIM:212790 premature centromere division premature centromere division OMIM:212790 MONDO:0008932 premature centromere division oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008932 premature centromere division oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:244400 MONDO:0008933 cephalin lipidosis oio:hasExactSynonym cephalin lipidosis OMIM:212800 cephalin lipidosis cephalin lipidosis OMIM:212800 MONDO:0008936 cerebellar ataxia and neurosensory deafness oio:hasExactSynonym cerebellar ataxia and neurosensory deafness OMIM:212850 cerebellar ataxia and neurosensory deafness cerebellar ataxia and neurosensory deafness OMIM:212850 MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia oio:hasExactSynonym cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 @@ -2172,8 +2073,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym Joubert syndrome 1 Joubert MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym JBTS1 OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS1 OMIM:213300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym myoclonus and ataxia OMIM:213400 dyssynergia cerebellaris myoclonica of hunt myoclonus and ataxia OMIM:213400 MONDO:0008946 cerebral angiopathy, dysphoric oio:hasExactSynonym cerebral angiopathy, dysphoric OMIM:213500 cerebral angiopathy, dysphoric cerebral angiopathy, dysphoric OMIM:213500 -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym Primary Familial Brain Calcification Primary Familial Brain Calcification primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 Primary Familial Brain Calcification OMIM:213600 -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 primary familial brain calcification OMIM:213600 MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym cerebrotendinous xanthomatosis OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebrotendinous xanthomatosis OMIM:213700 MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym CTX CTx CTX OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTX OMIM:213700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers oio:hasExactSynonym cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 @@ -2204,10 +2103,6 @@ MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym p MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym RCDP1 Rcdp1 RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym Greenberg dysplasia Greenberg dysplasia greenberg dysplasia OMIM:215140 greenberg dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Greenberg dysplasia OMIM:215140 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive Nance-Insley syndrome OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive Nance-Sweeney chondrodysplasia OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym chondrodystrophy with sensorineural deafness OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive chondrodystrophy with sensorineural deafness OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym OSMED OSMED osmed OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION OSMED OMIM:215150 MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia OMIMPS:184840 Otospondylomegaepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL otospondylomegaepiphyseal dysplasia OMIMPS:184840 MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome oio:hasExactSynonym chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 MONDO:0008977 chondrosarcoma oio:hasExactSynonym chondrosarcoma OMIM:215300 chondrosarcoma chondrosarcoma OMIM:215300 @@ -2261,8 +2156,6 @@ MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym Crane-Heise syndrome Cra MONDO:0009029 cranial nerves, congenital paresis of oio:hasExactSynonym cranial nerves, congenital paresis of OMIM:218100 cranial nerves, congenital paresis of cranial nerves, congenital paresis of OMIM:218100 MONDO:0009030 cranial nerves, recurrent paresis of oio:hasExactSynonym cranial nerves, recurrent paresis of OMIM:218200 cranial nerves, recurrent paresis of cranial nerves, recurrent paresis of OMIM:218200 MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym craniodiaphyseal dysplasia OMIM:218300 craniodiaphyseal dysplasia craniodiaphyseal dysplasia OMIM:218300 -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym CED CED ced OMIM:131300 camurati-engelmann disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION CED OMIM:131300 -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym Sensenbrenner syndrome Sensenbrenner syndrome sensenbrenner syndrome OMIM:218330 cranioectodermal dysplasia 1 Sensenbrenner syndrome OMIM:218330 MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym cranioectodermal dysplasia cranioectodermal dysplasia Cranioectodermal dysplasia OMIMPS:218330 Cranioectodermal dysplasia cranioectodermal dysplasia OMIMPS:218330 MONDO:0009033 temtamy syndrome oio:hasExactSynonym temtamy syndrome OMIM:218340 temtamy syndrome temtamy syndrome OMIM:218340 MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive oio:hasExactSynonym craniometaphyseal dysplasia, autosomal recessive OMIM:218400 craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia, autosomal recessive OMIM:218400 @@ -2271,9 +2164,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym Baller-Gerold syndrome MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome oio:hasExactSynonym craniosynostosis-mental retardation-clefting syndrome OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED craniosynostosis-mental retardation-clefting syndrome OMIM:218650 MONDO:0009042 craniotelencephalic dysplasia oio:hasExactSynonym craniotelencephalic dysplasia OMIM:218670 craniotelencephalic dysplasia craniotelencephalic dysplasia OMIM:218670 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome oio:hasExactSynonym crome syndrome OMIM:218900 crome syndrome crome syndrome OMIM:218900 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 cryptophthalmos with other malformations OMIM:219000 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 cryptophthalmos-syndactyly syndrome OMIM:219000 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome Fraser syndrome fraser syndrome OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fraser syndrome OMIM:219000 MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fraser syndrome OMIMPS:219000 MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis OMIM:219050 cryptorchidism, unilateral or bilateral undescended testis OMIM:219050 MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym curved nail of fourth toe OMIM:219070 curved nail of fourth toe curved nail of fourth toe OMIM:219070 @@ -2310,9 +2200,6 @@ MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome oio:hasExa MONDO:0009087 deafness, neural, congenital moderate oio:hasExactSynonym deafness, neural, congenital moderate OMIM:221500 deafness, neural, congenital moderate deafness, neural, congenital moderate OMIM:221500 MONDO:0009088 deafness, neural, with atypical atopic dermatitis oio:hasExactSynonym deafness, neural, with atypical atopic dermatitis OMIM:221700 deafness, neural, with atypical atopic dermatitis deafness, neural, with atypical atopic dermatitis OMIM:221700 MONDO:0009089 deafness-oligodontia syndrome oio:hasExactSynonym deafness-oligodontia syndrome OMIM:221740 deafness-oligodontia syndrome deafness-oligodontia syndrome OMIM:221740 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym Nasu-Hakola disease Nasu-Hakola disease nasu-hakola disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Nasu-Hakola disease OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym presenile dementia with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 presenile dementia with bone cysts OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym PLOSL PLOSL plosl OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLOSL OMIM:221770 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 MONDO:0009093 dermatoleukodystrophy oio:hasExactSynonym Dermatoleukodystrophy Dermatoleukodystrophy dermatoleukodystrophy OMIM:221790 dermatoleukodystrophy Dermatoleukodystrophy OMIM:221790 MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym dermochondrocorneal dystrophy OMIM:221800 dermochondrocorneal dystrophy dermochondrocorneal dystrophy OMIM:221800 @@ -2366,7 +2253,6 @@ MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym Riley-Day syndrome Riley-D MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym HSAN3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN3 OMIM:223900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009132 dysautonomia-like disorder oio:hasExactSynonym dysautonomia-like disorder OMIM:224000 dysautonomia-like disorder dysautonomia-like disorder OMIM:224000 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym dysequilibrium syndrome OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 dysequilibrium syndrome OMIM:224050 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium cerebellar ataxia, mental retardation, and dysequilibrium Cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium http://purl.obolibrary.org/obo/mondo#DEPRECATED cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type ia OMIM:224120 anemia, congenital dyserythropoietic, type ia anemia, congenital dyserythropoietic, type Ia OMIM:224120 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym dyskeratosis congenita, autosomal recessive 1 OMIM:224230 dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita, autosomal recessive 1 OMIM:224230 @@ -2615,7 +2501,6 @@ MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym hydranencephaly with renal aplasia-dysplasia OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly hydranencephaly with renal aplasia-dysplasia OMIM:236500 MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 oio:hasExactSynonym hydrocephalus, congenital, 1 OMIM:236600 hydrocephalus, congenital, 1 hydrocephalus, congenital, 1 OMIM:236600 MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 -MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym hydrolethalus syndrome 1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hydrolethalus syndrome 1 OMIM:236680 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym Kaufman-Mckusick syndrome Kaufman-Mckusick syndrome kaufman-mckusick syndrome OMIM:236700 mckusick-kaufman syndrome Kaufman-Mckusick syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym McKusick-Kaufman syndrome McKusick-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome McKusick-Kaufman syndrome OMIM:236700 @@ -2707,8 +2592,6 @@ MONDO:0009453 immune deficiency disease oio:hasExactSynonym immune deficiency d MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 MONDO:0009456 Immunoerythromyeloid hypoplasia oio:hasExactSynonym Immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia immunoerythromyeloid hypoplasia OMIM:242880 immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia OMIM:242880 MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia schimke immunoosseous dysplasia OMIM:242900 schimke immunoosseous dysplasia Schimke immunoosseous dysplasia OMIM:242900 -MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke syndrome Schimke syndrome schimke syndrome OMIM:312840 schimke syndrome Schimke syndrome OMIM:312840 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym insensitivity to pain, congenital OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 insensitivity to pain, congenital OMIM:608654 MONDO:0009460 indolylacroyl glycinuria with intellectual disability oio:hasExactSynonym indolylacroyl glycinuria with mental retardation OMIM:243050 indolylacroyl glycinuria with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED indolylacroyl glycinuria with mental retardation OMIM:243050 MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 spermatogenic failure 5 male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym spermatogenic failure 5 OMIM:243060 spermatogenic failure 5 spermatogenic failure 5 OMIM:243060 @@ -2732,7 +2615,6 @@ MONDO:0009476 atresia of small intestine oio:hasExactSynonym jejunal atresia MONDO:0009477 Stromme syndrome oio:hasExactSynonym Stromme syndrome Stromme syndrome stromme syndrome OMIM:243605 stromme syndrome Stromme syndrome OMIM:243605 MONDO:0009477 Stromme syndrome oio:hasExactSynonym apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 stromme syndrome apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 MONDO:0009477 Stromme syndrome oio:hasExactSynonym jejunal atresia with microcephaly and ocular anomalies OMIM:243605 stromme syndrome jejunal atresia with microcephaly and ocular anomalies OMIM:243605 -MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym Johanson-Blizzard syndrome Johanson-Blizzard syndrome johanson-blizzard syndrome OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Johanson-Blizzard syndrome OMIM:243800 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym Arima syndrome Arima syndrome arima syndrome OMIM:243910 arima syndrome Arima syndrome OMIM:243910 @@ -2767,9 +2649,7 @@ MONDO:0009507 Lambert syndrome oio:hasExactSynonym Lambert syndrome Lambert syn MONDO:0009508 Lambotte syndrome oio:hasExactSynonym Lambotte syndrome Lambotte syndrome lambotte syndrome OMIM:245552 lambotte syndrome Lambotte syndrome OMIM:245552 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous logic syndrome OMIM:245660 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:130720 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome laurence-moon syndrome OMIM:245800 laurence-moon syndrome Laurence-Moon syndrome OMIM:245800 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Norum disease norum disease OMIM:245900 lecithin:cholesterol acyltransferase deficiency Norum disease OMIM:245900 MONDO:0009515 Norum disease oio:hasExactSynonym lecithin:cholesterol acyltransferase deficiency OMIM:245900 lecithin:cholesterol acyltransferase deficiency lecithin:cholesterol acyltransferase deficiency OMIM:245900 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome donohue syndrome OMIM:246200 donohue syndrome Donohue syndrome OMIM:246200 @@ -2802,7 +2682,6 @@ MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblast MONDO:0009537 lymphoid interstitial pneumonia oio:hasExactSynonym lymphoid interstitial pneumonia OMIM:247610 lymphoid interstitial pneumonia lymphoid interstitial pneumonia OMIM:247610 MONDO:0009538 lymphoid system deterioration, progressive oio:hasExactSynonym lymphoid system deterioration, progressive OMIM:247630 lymphoid system deterioration, progressive lymphoid system deterioration, progressive OMIM:247630 MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym leukemia, acute lymphoblastic OMIM:613065 leukemia, acute lymphoblastic leukemia, acute lymphoblastic OMIM:613065 MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency oio:hasExactSynonym lymphokine deficiency OMIM:247650 lymphokine deficiency lymphokine deficiency OMIM:247650 MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis oio:hasExactSynonym lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 MONDO:0009542 lysine malabsorption syndrome oio:hasExactSynonym lysine malabsorption syndrome OMIM:247950 lysine malabsorption syndrome lysine malabsorption syndrome OMIM:247950 @@ -2829,9 +2708,6 @@ MONDO:0009562 beta-mannosidosis oio:hasExactSynonym Beta-mannosidase deficiency MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal beta-mannosidase deficiency OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidosis OMIM:248510 mannosidosis, beta a, lysosomal beta-mannosidosis OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal lysosomal beta-mannosidase deficiency OMIM:248510 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym BCKD deficiency BCKD deficiency bckd deficiency OMIM:248600 maple syrup urine disease, type 1a BCKD deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym branched-chain ketoaciduria OMIM:248600 maple syrup urine disease, type 1a branched-chain ketoaciduria OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease OMIM:248600 maple syrup urine disease, type 1a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maple syrup urine disease OMIM:248600 MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease maple syrup urine disease Maple syrup urine disease OMIMPS:248600 Maple syrup urine disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maple syrup urine disease OMIMPS:248600 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym Marden-Walker syndrome Marden-Walker syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome Marden-Walker syndrome OMIM:248700 MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome marinesco-sjogren syndrome OMIM:248800 marinesco-sjogren syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marinesco-Sjogren syndrome OMIM:248800 @@ -2851,7 +2727,6 @@ MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSyno MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym thiamine-responsive myelodysplasia OMIM:249270 thiamine-responsive megaloblastic anemia syndrome thiamine-responsive myelodysplasia OMIM:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym TRMA OMIM:249270 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TRMA OMIM:249270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:249300 megalocornea megalocornea OMIM:249300 -MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:309300 megalocornea megalocornea OMIM:309300 MONDO:0009577 megalocornea-intellectual disability syndrome oio:hasExactSynonym MMR syndrome MMR syndrome mmr syndrome OMIM:249310 neuhauser syndrome MMR syndrome OMIM:249310 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Borrone Dermatocardioskeletal syndrome Borrone Dermatocardioskeletal syndrome borrone dermatocardioskeletal syndrome OMIM:249420 frank-ter haar syndrome Borrone Dermatocardioskeletal syndrome OMIM:249420 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Frank-Ter Haar syndrome Frank-Ter Haar syndrome frank-ter haar syndrome OMIM:249420 frank-ter haar syndrome Frank-Ter Haar syndrome OMIM:249420 @@ -2876,7 +2751,6 @@ MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-coa hydrolase deficiency OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620 MONDO:0009604 methemoglobin reductase deficiency oio:hasExactSynonym methemoglobin reductase deficiency OMIM:250700 methemoglobin reductase deficiency methemoglobin reductase deficiency OMIM:250700 MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase oio:hasExactSynonym methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 -MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria MAT deficiency OMIM:203750 MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT I/III deficiency MAT I/III deficiency mat i/iii deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency MAT I/III deficiency OMIM:250850 MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency MAT deficiency OMIM:250850 MONDO:0009608 methionine malabsorption syndrome oio:hasExactSynonym methionine malabsorption syndrome OMIM:250900 methionine malabsorption syndrome methionine malabsorption syndrome OMIM:250900 @@ -2894,15 +2768,8 @@ MONDO:0009619 microcephaly-micromelia syndrome oio:hasExactSynonym microcephaly MONDO:0009622 Jawad syndrome oio:hasExactSynonym Jawad syndrome Jawad syndrome jawad syndrome OMIM:251255 jawad syndrome Jawad syndrome OMIM:251255 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome nijmegen breakage syndrome OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Nijmegen breakage syndrome OMIM:251260 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome NBs OMIM:601358 -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 Pseudotoxoplasmosis syndrome OMIM:225750 MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym DMJDS1 OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMJDS1 OMIM:251280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria OMIM:251290 pseudo-torch syndrome 1 band-like calcification with simplified gyration and polymicrogyria OMIM:251290 -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 pseudo-TORCH syndrome OMIM:251290 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome pseudo-TORCH syndrome OMIMPS:251290 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 Galloway syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 nephrosis-microcephaly syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome OMIM:251300 galloway-mowat syndrome 1 nephrosis-neuronal dysmigration syndrome OMIM:251300 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome OMIMPS:251300 Galloway-Mowat syndrome Galloway-Mowat syndrome OMIMPS:251300 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym Desbuquois dysplasia 1 Desbuquois dysplasia 1 desbuquois dysplasia 1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Desbuquois dysplasia 1 OMIM:251450 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 OMIM:251600 microphthalmia, isolated 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOP1 OMIM:251600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3001,8 +2868,6 @@ MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclon MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym myoclonic epilepsy, juvenile OMIM:254770 epilepsy, myoclonic juvenile myoclonic epilepsy, juvenile OMIM:254770 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym EJM OMIM:254770 epilepsy, myoclonic juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EJM OMIM:254770 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclonic juvenile epilepsy, myoclonic juvenile Epilepsy, myoclonic juvenile OMIMPS:254770 Epilepsy, myoclonic juvenile epilepsy, myoclonic juvenile OMIMPS:254770 -MONDO:0009697 Lafora disease oio:hasExactSynonym EPM2 EPM2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM2 OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym Lafora disease Lafora disease lafora disease OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Lafora disease OMIM:254780 MONDO:0009697 Lafora disease oio:hasExactSynonym myoclonic epilepsy of Lafora myoclonic epilepsy of Lafora Myoclonic epilepsy of Lafora OMIMPS:254780 Myoclonic epilepsy of Lafora myoclonic epilepsy of Lafora OMIMPS:254780 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym ULD ULD uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg http://purl.obolibrary.org/obo/mondo#ABBREVIATION ULD OMIM:254800 MONDO:0009699 action myoclonus-renal failure syndrome oio:hasExactSynonym action myoclonus-renal failure syndrome OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure action myoclonus-renal failure syndrome OMIM:254900 @@ -3025,17 +2890,10 @@ MONDO:0009720 Keipert syndrome oio:hasExactSynonym nasodigitoacoustic syndrome, MONDO:0009720 Keipert syndrome oio:hasExactSynonym KPTS OMIM:301026 keipert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KPTS OMIM:301026 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009721 Nathalie syndrome oio:hasExactSynonym Nathalie syndrome Nathalie syndrome nathalie syndrome OMIM:255990 nathalie syndrome Nathalie syndrome OMIM:255990 MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym Native American myopathy Native American myopathy native american myopathy OMIM:255995 congenital myopathy 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED Native American myopathy OMIM:255995 -MONDO:0009723 Leigh syndrome oio:hasExactSynonym LSS OMIM:135750 laurin-sandrow syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LSS OMIM:135750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym focal segmental glomerulosclerosis 10 OMIM:256020 focal segmental glomerulosclerosis 10 focal segmental glomerulosclerosis 10 OMIM:256020 MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym nail-patella-like renal disease OMIM:256020 focal segmental glomerulosclerosis 10 nail-patella-like renal disease OMIM:256020 MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym nemaline myopathy 2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nemaline myopathy 2 OMIM:256030 MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym NEM2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEM2 OMIM:256030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym JMP syndrome JMP syndrome jmp syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 JMP syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Nakajo-Nishimura syndrome Nakajo-Nishimura syndrome nakajo-nishimura syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 Nakajo-Nishimura syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AOII AOII aoii OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AOII OMIM:256050 MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AO2 OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AO2 OMIM:256050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NPH1 nph1 OMIM:256100 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPH1 OMIM:256100 @@ -3153,8 +3011,6 @@ MONDO:0009828 palant cleft palate syndrome oio:hasExactSynonym Palant cleft pal MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym Pallidopyramidal syndrome Pallidopyramidal syndrome pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset Pallidopyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset pallidopyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym parkinsonian-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parkinsonian-pyramidal syndrome OMIM:260300 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 pancreatic insufficiency and bone marrow dysfunction OMIM:260400 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Shwachman-Diamond syndrome OMIM:260400 MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Schwachman-Diamond syndrome OMIMPS:260400 Schwachman-Diamond syndrome Schwachman-Diamond syndrome OMIMPS:260400 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis OMIM:260470 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis subacute sclerosing panencephalitis OMIM:260470 @@ -3277,13 +3133,11 @@ MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 oio:hasExactSynony MONDO:0009932 pulmonary bullae causing pneumothorax oio:hasExactSynonym pulmonary bullae causing pneumothorax OMIM:265200 pulmonary bullae causing pneumothorax pulmonary bullae causing pneumothorax OMIM:265200 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACDMPV OMIM:265380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym PVOD PVOD pvod OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION PVOD OMIM:265450 MONDO:0009938 pulmonic stenosis oio:hasExactSynonym pulmonic stenosis OMIM:265500 pulmonic stenosis pulmonic stenosis OMIM:265500 MONDO:0009939 pulmonic stenosis and congenital nephrosis oio:hasExactSynonym pulmonic stenosis and congenital nephrosis OMIM:265600 pulmonic stenosis and congenital nephrosis pulmonic stenosis and congenital nephrosis OMIM:265600 MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Pyknodysostosis pyknodysostosis OMIM:265800 pycnodysostosis Pyknodysostosis OMIM:265800 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis OMIM:265800 pycnodysostosis pycnodysostosis OMIM:265800 MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym pyknoachondrogenesis OMIM:265880 pyknoachondrogenesis pyknoachondrogenesis OMIM:265880 -MONDO:0009943 Pyle disease oio:hasExactSynonym chondrodysplasia calcificans metaphysealis OMIM:215050 chondrodysplasia calcificans metaphysealis chondrodysplasia calcificans metaphysealis OMIM:215050 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle disease Pyle disease pyle disease OMIM:265900 pyle disease Pyle disease OMIM:265900 MONDO:0009943 Pyle disease oio:hasExactSynonym metaphyseal dysplasia, Pyle type metaphyseal dysplasia, Pyle type metaphyseal dysplasia, pyle type OMIM:265900 pyle disease metaphyseal dysplasia, Pyle type OMIM:265900 MONDO:0009944 pyloric atresia oio:hasExactSynonym pyloric atresia OMIM:265950 pyloric atresia pyloric atresia OMIM:265950 @@ -3296,7 +3150,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 pyruvate kinase deficiency of erythrocyte OMIM:266200 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 pyruvate kinase deficiency of red cells OMIM:266200 MONDO:0009951 radiculoneuropathy, fatal neonatal oio:hasExactSynonym Radiculoneuropathy, fatal neonatal Radiculoneuropathy, fatal neonatal radiculoneuropathy, fatal neonatal OMIM:266250 radiculoneuropathy, fatal neonatal Radiculoneuropathy, fatal neonatal OMIM:266250 -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc CDG IIc cdg iic OMIM:266265 congenital disorder of glycosylation, type iic CDG IIc OMIM:266265 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome Rambam-Hasharon syndrome rambam-hasharon syndrome OMIM:266265 congenital disorder of glycosylation, type iic Rambam-Hasharon syndrome OMIM:266265 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG2C OMIM:266265 congenital disorder of glycosylation, type iic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2C OMIM:266265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3311,7 +3164,6 @@ MONDO:0009958 adult Refsum disease oio:hasExactSynonym hereditary motor and sen MONDO:0009958 adult Refsum disease oio:hasExactSynonym heredopathia atactica polyneuritiformis OMIM:266500 refsum disease, classic heredopathia atactica polyneuritiformis OMIM:266500 MONDO:0009958 adult Refsum disease oio:hasExactSynonym phytanic acid oxidase deficiency OMIM:266500 refsum disease, classic phytanic acid oxidase deficiency OMIM:266500 MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3b OMIM:266510 peroxisome biogenesis disorder 3b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder 3B OMIM:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym infantile phytanic acid storage disease OMIM:601539 peroxisome biogenesis disorder 1b infantile phytanic acid storage disease OMIM:601539 MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym IBD1 OMIM:266600 inflammatory bowel disease (crohn disease) 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD1 OMIM:266600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009961 renal and mullerian duct hypoplasia oio:hasExactSynonym renal and mullerian duct hypoplasia OMIM:266810 renal and mullerian duct hypoplasia renal and mullerian duct hypoplasia OMIM:266810 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym Senior-Loken syndrome 1 Senior-Loken syndrome 1 senior-loken syndrome 1 OMIM:266900 senior-loken syndrome 1 Senior-Loken syndrome 1 OMIM:266900 @@ -3348,8 +3200,6 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym dyskeratosis congenita, autos MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bone marrow failure OMIM:268130 revesz syndrome exudative retinopathy with bone marrow failure OMIM:268130 MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive oio:hasExactSynonym myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction oio:hasExactSynonym rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM:268315 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome rothmund-thomson syndrome OMIM:268400 rothmund-thomson syndrome, type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome OMIM:268400 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym RTS RTS rts OMIM:312750 rett syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS OMIM:312750 MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome OMIMPS:268400 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome OMIMPS:268400 MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym Rowley-Rosenberg syndrome Rowley-Rosenberg syndrome rowley-rosenberg syndrome OMIM:268500 rowley-rosenberg syndrome Rowley-Rosenberg syndrome OMIM:268500 MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopine dehydrogenase deficiency OMIM:268700 saccharopinuria saccharopine dehydrogenase deficiency OMIM:268700 @@ -3357,7 +3207,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria OMIM:268700 MONDO:0010006 Sandhoff disease oio:hasExactSynonym Hexosaminidases A and B deficiency Hexosaminidases A and B deficiency hexosaminidases a and B deficiency OMIM:268800 sandhoff disease Hexosaminidases A and B deficiency OMIM:268800 MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Sandhoff disease sandhoff disease OMIM:268800 sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sandhoff disease OMIM:268800 MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sarcosinemia OMIM:268900 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:269150 MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly OMIM:269160 schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizencephaly OMIM:269160 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome Schmidt syndrome schmidt syndrome OMIM:269200 autoimmune polyendocrine syndrome, type 2 Schmidt syndrome OMIM:269200 @@ -3407,7 +3256,6 @@ MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym SPG23 OMIM MONDO:0010047 hereditary spastic paraplegia 5A oio:hasExactSynonym SPG5A OMIM:270800 spastic paraplegia 5a, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG5A OMIM:270800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010048 spastic paraplegia with myoclonic epilepsy oio:hasExactSynonym spastic paraplegia with myoclonic epilepsy OMIM:270805 spastic paraplegia with myoclonic epilepsy spastic paraplegia with myoclonic epilepsy OMIM:270805 MONDO:0010052 spermatogenic failure 4 oio:hasExactSynonym spermatogenic failure 4 OMIM:270960 spermatogenic failure 4 spermatogenic failure 4 OMIM:270960 -MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym SPH3 OMIM:270970 spherocytosis, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPH3 OMIM:270970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010054 spinal muscular atrophy with intellectual disability oio:hasExactSynonym spinal muscular atrophy with mental retardation OMIM:271109 spinal muscular atrophy with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED spinal muscular atrophy with mental retardation OMIM:271109 MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym spinal muscular atrophy, adult form OMIM:271150 spinal muscular atrophy, type 4 spinal muscular atrophy, adult form OMIM:271150 @@ -3420,7 +3268,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym SCAR3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR3 OMIM:271250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010063 corneal-cerebellar syndrome oio:hasExactSynonym corneal-cerebellar syndrome OMIM:271310 spinocerebellar degeneration and corneal dystrophy corneal-cerebellar syndrome OMIM:271310 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome oio:hasExactSynonym Bedouin spastic ataxia syndrome Bedouin spastic ataxia syndrome bedouin spastic ataxia syndrome OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia Bedouin spastic ataxia syndrome OMIM:271320 -MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:183090 spinocerebellar ataxia 2 spinocerebellar degeneration with slow eye movements OMIM:183090 MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements spinocerebellar degeneration with slow eye movements OMIM:271322 MONDO:0010067 splenoportal vascular anomalies oio:hasExactSynonym splenoportal vascular anomalies OMIM:271500 splenoportal vascular anomalies splenoportal vascular anomalies OMIM:271500 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym sponastrime dysplasia OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type sponastrime dysplasia OMIM:271510 @@ -3586,7 +3433,6 @@ MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis, localized, aut MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis 8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypotrichosis 8 OMIM:278150 MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym HYPT8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT8 OMIM:278150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oio:hasExactSynonym Salamon syndrome Salamon syndrome salamon syndrome OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears Salamon syndrome OMIM:278200 -MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS WSS wss OMIM:241080 woodhouse-sakati syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION WSS OMIM:241080 MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym wrinkly skin syndrome OMIM:278250 wrinkly skin syndrome wrinkly skin syndrome OMIM:278250 MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS OMIM:278250 wrinkly skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WSS OMIM:278250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010209 xanthinuria type I oio:hasExactSynonym xanthinuria, type 1 OMIM:278300 xanthinuria, type 1 xanthinuria, type 1 OMIM:278300 @@ -3832,7 +3678,6 @@ MONDO:0010449 autism, susceptibility to, X-linked 5 oio:hasExactSynonym autism, MONDO:0010454 intellectual disability, X-linked 88 oio:hasExactSynonym mental retardation, X-linked 88 OMIM:300852 intellectual developmental disorder, X-linked 88 http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked 88 OMIM:300852 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XMEN OMIM:300853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, Xp11-associated renal cell carcinoma, Xp11-associated renal cell carcinoma, xp11-associated OMIM:300854 renal cell carcinoma, xp11-associated renal cell carcinoma, Xp11-associated OMIM:300854 -MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, papillary, 1 OMIM:605074 renal cell carcinoma, papillary, 1 renal cell carcinoma, papillary, 1 OMIM:605074 MONDO:0010457 Ogden syndrome oio:hasExactSynonym N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency n-terminal acetyltransferase deficiency OMIM:300855 ogden syndrome N-terminal acetyltransferase deficiency OMIM:300855 MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome ogden syndrome OMIM:300855 ogden syndrome Ogden syndrome OMIM:300855 MONDO:0010457 Ogden syndrome oio:hasExactSynonym OGDNS OMIM:300855 ogden syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OGDNS OMIM:300855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3953,7 +3798,6 @@ MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with apla MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined oio:hasExactSynonym Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined OMIM:302900 MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym Abruzzo-Erickson syndrome Abruzzo-Erickson syndrome abruzzo-erickson syndrome OMIM:302905 abruzzo-erickson syndrome Abruzzo-Erickson syndrome OMIM:302905 MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym ABERS OMIM:302905 abruzzo-erickson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ABERS OMIM:302905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal brachytelephalangic chondrodysplasia punctata OMIM:602497 MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL choroideremia OMIM:303100 MONDO:0010557 choroideremia oio:hasExactSynonym CHM OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHM OMIM:303100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome gareis-mason syndrome OMIM:303350 masa syndrome Gareis-Mason syndrome OMIM:303350 @@ -4039,7 +3883,6 @@ MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym incontinentia pigmenti MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym epileptic encephalopathy, early infantile, 1 OMIM:308350 developmental and epileptic encephalopathy 1 epileptic encephalopathy, early infantile, 1 OMIM:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym DEE1 OMIM:308350 developmental and epileptic encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE1 OMIM:308350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma iris hypoplasia with glaucoma OMIM:308500 -MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 iris hypoplasia with glaucoma OMIM:601631 MONDO:0010634 jaundice, familial obstructive, of infancy oio:hasExactSynonym jaundice, familial obstructive, of infancy OMIM:308600 jaundice, familial obstructive, of infancy jaundice, familial obstructive, of infancy OMIM:308600 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 MONDO:0010636 Kallmann syndrome with spastic paraplegia oio:hasExactSynonym Kallmann syndrome with spastic paraplegia Kallmann syndrome with spastic paraplegia kallmann syndrome with spastic paraplegia OMIM:308750 kallmann syndrome with spastic paraplegia Kallmann syndrome with spastic paraplegia OMIM:308750 @@ -4066,7 +3909,6 @@ MONDO:0010651 Menkes disease oio:hasExactSynonym MNK OMIM:309400 menkes disea MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Golabi-Ito-Hall syndrome Golabi-Ito-Hall syndrome golabi-ito-hall syndrome OMIM:309500 renpenning syndrome 1 Golabi-Ito-Hall syndrome OMIM:309500 MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Sutherland-Haan X-linked mental retardation syndrome Sutherland-Haan X-linked mental retardation syndrome sutherland-haan X-linked mental retardation syndrome OMIM:309500 renpenning syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED Sutherland-Haan X-linked mental retardation syndrome OMIM:309500 MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome Partington syndrome OMIM:309510 -MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked Partington syndrome OMIM:312780 MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym Lujan-Fryns syndrome Lujan-Fryns syndrome lujan-fryns syndrome OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type Lujan-Fryns syndrome OMIM:309520 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym MRX MRX mrx OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRX OMIM:309530 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym mental retardation, X-linked 1 OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked 1 OMIM:309530 @@ -4092,7 +3934,6 @@ MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, s MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, syndromic 4, formerly OMIM:309800 microphthalmia, syndromic 1 microphthalmia, syndromic 4, formerly OMIM:309800 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MAA, formerly MAA, formerly maa, formerly OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAA, formerly OMIM:309800 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS1 OMIM:309800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome MIDAS syndrome midas syndrome OMIM:309801 linear skin defects with multiple congenital anomalies 1 MIDAS syndrome OMIM:309801 MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies Linear skin defects with multiple congenital anomalies OMIMPS:309801 Linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies OMIMPS:309801 MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym modifier, X-linked, for Neurofunctional defects modifier, X-linked, for Neurofunctional defects modifier, x-linked, for neurofunctional defects OMIM:309840 modifier, x-linked, for neurofunctional defects modifier, X-linked, for Neurofunctional defects OMIM:309840 MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome Hunter syndrome hunter syndrome OMIM:309900 mucopolysaccharidosis, type 2 Hunter syndrome OMIM:309900 @@ -4213,7 +4054,6 @@ MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked, with congenital contractures and Low fingertip arches OMIM:314580 MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked, with congenital contractures and low fingertip arches OMIM:314580 MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym WRWF OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WRWF OMIM:314580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym Wieacker-Wolff syndrome OMIMPS:314580 Wieacker-Wolff syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wieacker-Wolff syndrome OMIMPS:314580 MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Cervicooculoacoustic syndrome Cervicooculoacoustic syndrome cervicooculoacoustic syndrome OMIM:314600 wildervanck syndrome Cervicooculoacoustic syndrome OMIM:314600 MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Wildervanck syndrome Wildervanck syndrome wildervanck syndrome OMIM:314600 wildervanck syndrome Wildervanck syndrome OMIM:314600 MONDO:0010761 retinitis pigmentosa Y-linked oio:hasExactSynonym retinitis pigmentosa, Y-linked OMIM:400004 retinitis pigmentosa, Y-linked retinitis pigmentosa, Y-linked OMIM:400004 @@ -4413,10 +4253,8 @@ MONDO:0010991 laterality defects, autosomal dominant oio:hasExactSynonym latera MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym Ayme-Gripp syndrome Ayme-Gripp syndrome ayme-gripp syndrome OMIM:601088 ayme-gripp syndrome Ayme-Gripp syndrome OMIM:601088 MONDO:0010993 Harrod syndrome oio:hasExactSynonym Harrod syndrome Harrod syndrome harrod syndrome OMIM:601095 harrod syndrome Harrod syndrome OMIM:601095 MONDO:0010995 Charcot-Marie-Tooth disease type 1C oio:hasExactSynonym CMT1C OMIM:601098 charcot-marie-tooth disease, demyelinating, type 1c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT1C OMIM:601098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive, 1 OMIM:601104 supranuclear palsy, progressive, 1 supranuclear palsy, progressive, 1 OMIM:601104 MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP PSP psp OMIM:601104 supranuclear palsy, progressive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSP OMIM:601104 -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive supranuclear palsy, progressive Supranuclear palsy, progressive OMIMPS:601104 Supranuclear palsy, progressive supranuclear palsy, progressive OMIMPS:601104 MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDG1D OMIM:601110 congenital disorder of glycosylation, type id http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG1D OMIM:601110 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym Brugada syndrome 1 Brugada syndrome 1 brugada syndrome 1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome 1 OMIM:601144 MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym BRGDA1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRGDA1 OMIM:601144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4683,7 +4521,6 @@ MONDO:0011274 Muenke syndrome oio:hasExactSynonym Muenke syndrome Muenke syndro MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type oio:hasExactSynonym acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, maroteaux type OMIM:602875 acromesomelic dysplasia 1 acromesomelic dysplasia, Maroteaux type OMIM:602875 MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym orofacial cleft 2 OMIM:602966 orofacial cleft 2 orofacial cleft 2 OMIM:602966 MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC2 OMIM:615560 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia 6 OMIM:603013 schizophrenia 6 schizophrenia 6 OMIM:603013 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8p-related OMIM:603013 schizophrenia 6 schizophrenia susceptibility locus, chromosome 8P-related OMIM:603013 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym SCZD6 OMIM:603013 schizophrenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD6 OMIM:603013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4732,7 +4569,6 @@ MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior MONDO:0011318 Tonoki syndrome oio:hasExactSynonym Tonoki syndrome Tonoki syndrome tonoki syndrome OMIM:603396 tonoki syndrome Tonoki syndrome OMIM:603396 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Giuffre-Tsukahara syndrome Giuffre-Tsukahara syndrome giuffre-tsukahara syndrome OMIM:603438 tsukahara syndrome Giuffre-Tsukahara syndrome OMIM:603438 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome Tsukahara syndrome OMIM:603438 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome Tsukahara syndrome OMIM:613627 MONDO:0011321 expansile bone lesions oio:hasExactSynonym expansile bone lesions OMIM:603439 expansile bone lesions expansile bone lesions OMIM:603439 MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type oio:hasExactSynonym Oroacral syndrome, Verloes-Koulischer type Oroacral syndrome, Verloes-Koulischer type oroacral syndrome, verloes-koulischer type OMIM:603446 oroacral syndrome, verloes-koulischer type Oroacral syndrome, Verloes-Koulischer type OMIM:603446 MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym FANCF OMIM:603467 fanconi anemia, complementation group f http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FANCF OMIM:603467 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4740,7 +4576,6 @@ MONDO:0011326 citrullinemia, type II, adult-onset oio:hasExactSynonym citrullin MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease OMIM:603472 neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease OMIM:603472 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 OMIM:603516 spinocerebellar ataxia 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA10 OMIM:603516 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin oio:hasExactSynonym Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:130720 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome OMIM:603543 limb-mammary syndrome limb-mammary syndrome OMIM:603543 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, type 2 spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 @@ -4773,7 +4608,6 @@ MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities oio:has MONDO:0011358 blue nevi, familial multiple oio:hasExactSynonym blue nevi, familial multiple OMIM:603670 blue nevi, familial multiple blue nevi, familial multiple OMIM:603670 MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym acromelic frontonasal dysostosis OMIM:603671 acromelic frontonasal dysostosis acromelic frontonasal dysostosis OMIM:603671 MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011361 prostate cancer/brain cancer susceptibility oio:hasExactSynonym prostate cancer/brain cancer susceptibility OMIM:603688 prostate cancer/brain cancer susceptibility prostate cancer/brain cancer susceptibility OMIM:603688 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym Edstrom myopathy Edstrom myopathy edstrom myopathy OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure Edstrom myopathy OMIM:603689 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 @@ -4877,7 +4711,6 @@ MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplas MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym nephronophthisis 3 OMIM:604387 nephronophthisis 3 nephronophthisis 3 OMIM:604387 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPH3 NPH3 nph3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPH3 OMIM:604387 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPHP3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHP3 OMIM:604387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym ATLD ATLD atld OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLD OMIM:604391 MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym Leber congenital amaurosis 4 Leber congenital amaurosis 4 leber congenital amaurosis 4 OMIM:604393 leber congenital amaurosis 4 Leber congenital amaurosis 4 OMIM:604393 MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym LCA4 OMIM:604393 leber congenital amaurosis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA4 OMIM:604393 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 @@ -4909,7 +4742,6 @@ MONDO:0011481 craniosynostosis 2 oio:hasExactSynonym CRS2 OMIM:604757 cranios MONDO:0011482 dilated cardiomyopathy 1I oio:hasExactSynonym CMD1I OMIM:604765 cardiomyopathy, dilated, 1i http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1I OMIM:604765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011483 polycystic bone disease oio:hasExactSynonym polycystic bone disease OMIM:604771 polycystic bone disease polycystic bone disease OMIM:604771 MONDO:0011485 autosomal recessive congenital ichthyosis 5 oio:hasExactSynonym ARCI5 OMIM:604777 ichthyosis, congenital, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCI5 OMIM:604777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym CMD1B OMIM:600884 cardiomyopathy, dilated, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1B OMIM:600884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym MDC1B OMIM:604801 muscular dystrophy, congenital, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDC1B OMIM:604801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym Huntington disease-like 3 Huntington disease-like 3 huntington disease-like 3 OMIM:604802 huntington disease-like 3 Huntington disease-like 3 OMIM:604802 MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym HDL3 OMIM:604802 huntington disease-like 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HDL3 OMIM:604802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5003,7 +4835,6 @@ MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym cone-rod dystrophy 8 O MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym CORD8 OMIM:605549 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD8 OMIM:605549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011565 metabolic syndrome X oio:hasExactSynonym abdominal obesity-metabolic syndrome 1 OMIM:605552 abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome 1 OMIM:605552 MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 -MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym Abdominal obesity-metabolic syndrome OMIMPS:605552 Abdominal obesity-metabolic syndrome Abdominal obesity-metabolic syndrome OMIMPS:605552 MONDO:0011567 dilated cardiomyopathy 1K oio:hasExactSynonym CMD1K OMIM:605582 cardiomyopathy, dilated, 1k http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1K OMIM:605582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 oio:hasExactSynonym CMT2B1 OMIM:605588 charcot-marie-tooth disease, axonal, type 2b1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2B1 OMIM:605588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 oio:hasExactSynonym ARCMT2B ARCMT2B arcmt2b OMIM:605589 charcot-marie-tooth disease, axonal, type 2b2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCMT2B OMIM:605589 @@ -5047,7 +4878,6 @@ MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym birdshot chorioret MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym BSCR BSCR bscr OMIM:605808 birdshot chorioretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION BSCR OMIM:605808 MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS4A OMIM:605809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy Nonaka myopathy nonaka myopathy OMIM:605820 nonaka myopathy Nonaka myopathy OMIM:605820 -MONDO:0011603 GNE myopathy oio:hasExactSynonym DMRV OMIM:617158 myopathy, distal, with rimmed vacuoles http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMRV OMIM:617158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011606 baby rattle pelvis dysplasia oio:hasExactSynonym baby rattle pelvis dysplasia OMIM:605838 baby rattle pelvis dysplasia baby rattle pelvis dysplasia OMIM:605838 MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym narcolepsy 2, susceptibility to OMIM:605841 narcolepsy 2, susceptibility to narcolepsy 2, susceptibility to OMIM:605841 MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym NRCLP2 OMIM:605841 narcolepsy 2, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NRCLP2 OMIM:605841 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5123,7 +4953,6 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDI1 CMTDI1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDI1 OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDIB OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDIB OMIM:606482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMT2GG OMIM:606483 charcot-marie-tooth disease, axonal, type 2gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2GG OMIM:606483 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMTDIA OMIM:620378 charcot-marie-tooth disease, dominant intermediate a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDIA OMIM:620378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011677 Megarbane syndrome oio:hasExactSynonym Megarbane syndrome Megarbane syndrome megarbane syndrome OMIM:606527 megarbane syndrome Megarbane syndrome OMIM:606527 MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym homozygous 11P15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome homozygous 11p15-p14 deletion syndrome OMIM:606528 homozygous 11p15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome OMIM:606528 MONDO:0011679 craniosynostosis syndrome, autosomal recessive oio:hasExactSynonym craniosynostosis syndrome, autosomal recessive OMIM:606529 craniosynostosis syndrome, autosomal recessive craniosynostosis syndrome, autosomal recessive OMIM:606529 @@ -5140,7 +4969,6 @@ MONDO:0011689 dyslexia, susceptibility to, 6 oio:hasExactSynonym DYX6 OMIM:60 MONDO:0011690 Camurati-Engelmann disease, type 2 oio:hasExactSynonym Camurati-Engelmann disease, type 2 Camurati-Engelmann disease, type 2 camurati-engelmann disease, type 2 OMIM:606631 camurati-engelmann disease, type 2 Camurati-Engelmann disease, type 2 OMIM:606631 MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 OMIM:606640 amyotrophic lateral sclerosis 3 amyotrophic lateral sclerosis 3 OMIM:606640 MONDO:0011693 glaucoma, normal tension, susceptibility to oio:hasExactSynonym glaucoma, normal tension, susceptibility to OMIM:606657 glaucoma, normal tension, susceptibility to glaucoma, normal tension, susceptibility to OMIM:606657 -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 OMIM:615768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym melanoma, uveal, susceptibility to, 1 OMIM:606660 melanoma, uveal, susceptibility to, 1 melanoma, uveal, susceptibility to, 1 OMIM:606660 MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym UVM1 OMIM:606660 melanoma, uveal, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION UVM1 OMIM:606660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011696 melanoma, uveal, susceptibility to, 2 oio:hasExactSynonym melanoma, uveal, susceptibility to, 2 OMIM:606661 melanoma, uveal, susceptibility to, 2 melanoma, uveal, susceptibility to, 2 OMIM:606661 @@ -5226,9 +5054,6 @@ MONDO:0011765 multiple epiphyseal dysplasia type 5 oio:hasExactSynonym EDM5 O MONDO:0011768 myasthenia gravis with thymus hyperplasia oio:hasExactSynonym myasthenia gravis with thymus hyperplasia OMIM:607085 myasthenia gravis with thymus hyperplasia myasthenia gravis with thymus hyperplasia OMIM:607085 MONDO:0011770 aortic aneurysm, familial thoracic 2 oio:hasExactSynonym aortic aneurysm, familial thoracic 2 OMIM:607087 aortic aneurysm, familial thoracic 2 aortic aneurysm, familial thoracic 2 OMIM:607087 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D OMIM:607091 congenital disorder of glycosylation, type iid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2D OMIM:607091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia OMIM:607095 anauxetic dysplasia 1 anauxetic dysplasia OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 spondylometaepiphyseal dysplasia, Menger type OMIM:607095 MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia anauxetic dysplasia OMIMPS:607095 MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome cinca syndrome OMIM:607115 cinca syndrome CINCA syndrome OMIM:607115 MONDO:0011776 CINCA syndrome oio:hasExactSynonym chronic neurologic cutaneous and articular syndrome OMIM:607115 cinca syndrome chronic neurologic cutaneous and articular syndrome OMIM:607115 @@ -5271,7 +5096,6 @@ MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 oio:hasExactSynonym SLEH1 OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLEH1 OMIM:607279 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011808 cataract 27 oio:hasExactSynonym cataract 27 OMIM:607304 cataract 27 cataract 27 OMIM:607304 MONDO:0011808 cataract 27 oio:hasExactSynonym CTRCT27 OMIM:607304 cataract 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTRCT27 OMIM:607304 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym HGPPS HGPPS hgpps OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HGPPS OMIM:607313 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym SCAR4 OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR4 OMIM:607317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym DR syndrome DR syndrome dr syndrome OMIM:607323 duane-radial ray syndrome DR syndrome OMIM:607323 MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym Duane anomaly with radial ray abnormalities and deafness Duane anomaly with radial ray abnormalities and deafness duane anomaly with radial ray abnormalities and deafness OMIM:607323 duane-radial ray syndrome Duane anomaly with radial ray abnormalities and deafness OMIM:607323 @@ -5294,7 +5118,6 @@ MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym autism, suscepti MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym AUTS8 OMIM:607373 autism, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AUTS8 OMIM:607373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011825 streptococcus, group A, severity of infection by oio:hasExactSynonym streptococcus, group A, severity of infection by streptococcus, group A, severity of infection by streptococcus, group a, severity of infection by OMIM:607395 streptococcus, group a, severity of infection by streptococcus, group A, severity of infection by OMIM:607395 MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 glucocorticoid deficiency 2 OMIM:607398 -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA OMIM:607411 MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent ductus arteriosus OMIMPS:607411 Patent ductus arteriosus patent ductus arteriosus OMIMPS:607411 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym coenzyme Q10 deficiency, primary, 1 OMIM:607426 coenzyme Q10 deficiency, primary, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL coenzyme Q10 deficiency, primary, 1 OMIM:607426 MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 @@ -5319,7 +5142,6 @@ MONDO:0011850 migraine with or without aura, susceptibility to, 5 oio:hasExactSy MONDO:0011851 migraine with or without aura, susceptibility to, 6 oio:hasExactSynonym migraine with or without aura, susceptibility to, 6 OMIM:607516 migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to, 6 OMIM:607516 MONDO:0011853 Camptosynpolydactyly, complex oio:hasExactSynonym camptosynpolydactyly, complex OMIM:607539 camptosynpolydactyly, complex camptosynpolydactyly, complex OMIM:607539 MONDO:0011854 secretory diarrhea, myopathy, and deafness oio:hasExactSynonym secretory diarrhea, myopathy, and deafness OMIM:607540 secretory diarrhea, myopathy, and deafness secretory diarrhea, myopathy, and deafness OMIM:607540 -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym CGD2 OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD2 OMIM:233710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym Avellino corneal dystrophy Avellino corneal dystrophy avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type Avellino corneal dystrophy OMIM:607541 MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type avellino corneal dystrophy OMIM:607541 MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym combined granular-lattice corneal dystrophy OMIM:607541 corneal dystrophy, avellino type combined granular-lattice corneal dystrophy OMIM:607541 @@ -5336,7 +5158,6 @@ MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym leth MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym LCCS2 OMIM:607598 lethal congenital contracture syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS2 OMIM:607598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym epidermolysis bullosa simplex superficialis OMIM:607600 epidermolysis bullosa simplex superficialis epidermolysis bullosa simplex superficialis OMIM:607600 MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym EBSS OMIM:607600 epidermolysis bullosa simplex superficialis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EBSS OMIM:607600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym AEI AEI aei OMIM:607602 ichthyosis, annular epidermolytic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AEI OMIM:607602 MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym ichthyosis, annular epidermolytic ichthyosis, annular epidermolytic Ichthyosis, annular epidermolytic OMIMPS:607602 Ichthyosis, annular epidermolytic ichthyosis, annular epidermolytic OMIMPS:607602 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym Griscelli syndrome with hemophagocytic syndrome Griscelli syndrome with hemophagocytic syndrome griscelli syndrome with hemophagocytic syndrome OMIM:607624 griscelli syndrome, type 2 Griscelli syndrome with hemophagocytic syndrome OMIM:607624 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym PAID syndrome PAID syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 PAID syndrome OMIM:607624 @@ -5367,7 +5188,6 @@ MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E O MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 11, autosomal dominant, susceptibility to Parkinson disease 11, autosomal dominant, susceptibility to parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to Parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym HLD7 OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLD7 OMIM:607694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome tosti syndrome OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 Tosti syndrome OMIM:607721 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym porokeratosis 4, disseminated superficial actinic type OMIM:607728 porokeratosis 4, disseminated superficial actinic type porokeratosis 4, disseminated superficial actinic type OMIM:607728 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym POROK4 OMIM:607728 porokeratosis 4, disseminated superficial actinic type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION POROK4 OMIM:607728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5396,7 +5216,6 @@ MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSyn MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSynonym nonimmune chronic idiopathic neutropenia of adults OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults nonimmune chronic idiopathic neutropenia of adults OMIM:607847 MONDO:0011923 osteoarthritis susceptibility 3 oio:hasExactSynonym osteoarthritis susceptibility 3 OMIM:607850 osteoarthritis susceptibility 3 osteoarthritis susceptibility 3 OMIM:607850 MONDO:0011924 panic disorder 2 oio:hasExactSynonym panic disorder 2 OMIM:607853 panic disorder 2 panic disorder 2 OMIM:607853 -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym CMD1A OMIM:115200 cardiomyopathy, dilated, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1A OMIM:115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym MDC1A OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDC1A OMIM:607855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym psoriasis 9, susceptibility to OMIM:607857 psoriasis 9, susceptibility to psoriasis 9, susceptibility to OMIM:607857 MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym PSORS9 OMIM:607857 psoriasis 9, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSORS9 OMIM:607857 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5674,7 +5493,6 @@ MONDO:0012159 lung cancer susceptibility 1 oio:hasExactSynonym LNCR1 OMIM:608 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 OMIM:608970 macular dystrophy, patterned, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDPT2 OMIM:608970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym IMD104 OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD104 OMIM:608971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0012164 Meacham syndrome oio:hasExactSynonym Meacham syndrome Meacham syndrome meacham syndrome OMIM:608978 meacham syndrome Meacham syndrome OMIM:608978 MONDO:0012165 BNAR syndrome oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies OMIM:608980 MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA ADSA adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADSA OMIM:608984 @@ -5978,9 +5796,6 @@ MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym esophagitis, eos MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym EOE1 OMIM:610247 esophagitis, eosinophilic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOE1 OMIM:610247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 OMIM:610250 spastic paraplegia 31, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 OMIM:610250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012454 alcohol sensitivity, acute oio:hasExactSynonym alcohol sensitivity, acute OMIM:610251 alcohol sensitivity, acute alcohol sensitivity, acute OMIM:610251 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome OMIM:610253 kleefstra syndrome 1 9Q subtelomeric deletion syndrome OMIM:610253 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q- syndrome 9Q- syndrome 9q- syndrome OMIM:610253 kleefstra syndrome 1 9Q- syndrome OMIM:610253 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym chromosome 9Q34.3 deletion syndrome chromosome 9Q34.3 deletion syndrome chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 chromosome 9Q34.3 deletion syndrome OMIM:610253 MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome OMIMPS:610253 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary OMIM:610256 anterior segment dysgenesis 2 aphakia, congenital primary OMIM:610256 MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 oio:hasExactSynonym pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 @@ -6007,7 +5822,6 @@ MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym orofacial cleft 9 OMIM:61 MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym OFC9 OMIM:610361 orofacial cleft 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC9 OMIM:610361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric anendocrinosis OMIM:610370 diarrhea 4, malabsorptive, congenital enteric anendocrinosis OMIM:610370 MONDO:0012480 diabetes mellitus, transient neonatal, 2 oio:hasExactSynonym diabetes mellitus, transient neonatal, 2 OMIM:610374 diabetes mellitus, transient neonatal, 2 diabetes mellitus, transient neonatal, 2 OMIM:610374 -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS OMIM:260920 hyper-igd syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIDS OMIM:260920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria OMIM:610377 mevalonic aciduria mevalonic aciduria OMIM:610377 MONDO:0012482 West Nile virus, susceptibility to oio:hasExactSynonym West Nile virus, susceptibility to West Nile virus, susceptibility to west nile virus, susceptibility to OMIM:610379 west nile virus, susceptibility to West Nile virus, susceptibility to OMIM:610379 MONDO:0012483 cone-rod dystrophy 11 oio:hasExactSynonym cone-rod dystrophy 11 OMIM:610381 cone-rod dystrophy 11 cone-rod dystrophy 11 OMIM:610381 @@ -6420,7 +6234,6 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym retinitis pigmentosa 29 OMIM:612165 retinitis pigmentosa 29 retinitis pigmentosa 29 OMIM:612165 MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym RP29 OMIM:612165 retinitis pigmentosa 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP29 OMIM:612165 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012814 diastasis recti and weakness of the linea alba oio:hasExactSynonym diastasis recti and weakness of the linea alba OMIM:612198 diastasis recti and weakness of the linea alba diastasis recti and weakness of the linea alba OMIM:612198 -MONDO:0012815 Coats plus syndrome oio:hasExactSynonym CRMCC CRMCC crmcc OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRMCC OMIM:612199 MONDO:0012815 Coats plus syndrome oio:hasExactSynonym cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcfications and cysts Cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 MONDO:0012816 atrial fibrillation, familial, 6 oio:hasExactSynonym atrial fibrillation, familial, 6 OMIM:612201 atrial fibrillation, familial, 6 atrial fibrillation, familial, 6 OMIM:612201 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma ewing sarcoma OMIM:612219 ewing sarcoma Ewing sarcoma OMIM:612219 @@ -6522,7 +6335,6 @@ MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExa MONDO:0012881 major affective disorder 7 oio:hasExactSynonym major affective disorder 7 OMIM:612371 major affective disorder 7 major affective disorder 7 OMIM:612371 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym major affective disorder 9 OMIM:612372 major affective disorder 9 major affective disorder 9 OMIM:612372 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym MAFD9 OMIM:612372 major affective disorder 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAFD9 OMIM:612372 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym acute promyelocytic leukemia OMIM:612376 acute promyelocytic leukemia acute promyelocytic leukemia OMIM:612376 MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 @@ -6555,7 +6367,6 @@ MONDO:0012908 complement component 6 deficiency oio:hasExactSynonym complement MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability oio:hasExactSynonym skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym age-related hearing impairment 1 OMIM:612448 age-related hearing impairment 1 age-related hearing impairment 1 OMIM:612448 MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym ARHI1 OMIM:612448 age-related hearing impairment 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARHI1 OMIM:612448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance albright hereditary osteodystrophy with multiple hormone resistance OMIM:103580 pseudohypoparathyroidism, type 1a Albright Hereditary osteodystrophy with multiple hormone resistance OMIM:103580 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism OMIM:612463 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudopseudohypoparathyroidism OMIM:612463 MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 wagro syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym chromosome 1q21.1 duplication syndrome OMIM:612475 chromosome 1q21.1 duplication syndrome chromosome 1q21.1 duplication syndrome OMIM:612475 @@ -6665,7 +6476,6 @@ MONDO:0013002 cone-rod dystrophy 9 oio:hasExactSynonym CORD9 OMIM:612775 cone MONDO:0013004 hypotonia, seizures, and precocious puberty oio:hasExactSynonym hypotonia, seizures, and precocious puberty OMIM:612777 hypotonia, seizures, and precocious puberty hypotonia, seizures, and precocious puberty OMIM:612777 MONDO:0013005 EAST syndrome oio:hasExactSynonym EAST syndrome EAST syndrome east syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance EAST syndrome OMIM:612780 MONDO:0013005 EAST syndrome oio:hasExactSynonym sesame syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance sesame syndrome OMIM:612780 -MONDO:0013006 isolated growth hormone deficiency type IB oio:hasExactSynonym dwarfism of Sindh dwarfism of Sindh dwarfism of sindh OMIM:618157 isolated growth hormone deficiency, type 4 dwarfism of Sindh OMIM:618157 MONDO:0013009 Megarbane-Jalkh syndrome oio:hasExactSynonym Megarbane-Jalkh syndrome Megarbane-Jalkh syndrome megarbane-jalkh syndrome OMIM:612785 megarbane-jalkh syndrome Megarbane-Jalkh syndrome OMIM:612785 MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym atrial septal defect 5 OMIM:612794 atrial septal defect 5 atrial septal defect 5 OMIM:612794 MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym ASD5 OMIM:612794 atrial septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASD5 OMIM:612794 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6835,19 +6645,15 @@ MONDO:0013146 Brugada syndrome 7 oio:hasExactSynonym BRGDA7 OMIM:613120 bruga MONDO:0013147 dilated cardiomyopathy 1CC oio:hasExactSynonym CMD1CC OMIM:613122 cardiomyopathy, dilated, 1cc http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1CC OMIM:613122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym Brugada syndrome 8 Brugada syndrome 8 brugada syndrome 8 OMIM:613123 brugada syndrome 8 Brugada syndrome 8 OMIM:613123 MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym BRGDA8 OMIM:613123 brugada syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRGDA8 OMIM:613123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym dopamine transporter deficiency syndrome OMIM:613135 parkinsonism-dystonia 1, infantile-onset dopamine transporter deficiency syndrome OMIM:613135 -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PKDYS PKDYS pkdys OMIM:613135 parkinsonism-dystonia 1, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKDYS OMIM:613135 MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PARKINSONISM-dystonia, infantile PARKINSONISM-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile PARKINSONISM-dystonia, infantile OMIMPS:613135 MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym parkinsonism-dystonia, infantile parkinsonism-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parkinsonism-dystonia, infantile OMIMPS:613135 MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym choroidal dystrophy, central areolar, 3 OMIM:613144 choroidal dystrophy, central areolar, 3 choroidal dystrophy, central areolar, 3 OMIM:613144 MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym CACD3 OMIM:613144 choroidal dystrophy, central areolar, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACD3 OMIM:613144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym SLEB14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLEB14 OMIM:613145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease 28, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive inflammatory bowel disease 28, autosomal recessive OMIM:613148 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym IBD28 OMIM:613148 inflammatory bowel disease 28, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD28 OMIM:613148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related walker-warburg syndrome or muscle-eye-brain disease, pomt2-related OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related OMIM:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym MDDGA2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDDGA2 OMIM:613150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6999,7 +6805,6 @@ MONDO:0013306 combined oxidative phosphorylation defect type 7 oio:hasExactSynon MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 oio:hasExactSynonym myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 MONDO:0013308 CBL-related disorder oio:hasExactSynonym Cbl syndrome Cbl syndrome cbl syndrome OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Cbl syndrome OMIM:613563 MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome oio:hasExactSynonym chromosome 2p12-p11.2 deletion syndrome OMIM:613564 chromosome 2p12-p11.2 deletion syndrome chromosome 2p12-p11.2 deletion syndrome OMIM:613564 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym EDSS1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSS1 OMIM:613573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym retinitis pigmentosa 55 OMIM:613575 retinitis pigmentosa 55 retinitis pigmentosa 55 OMIM:613575 MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym RP55 OMIM:613575 retinitis pigmentosa 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP55 OMIM:613575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym EDSS2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSS2 OMIM:613576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7032,8 +6837,6 @@ MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B oio:hasExactS MONDO:0013339 dilated cardiomyopathy 1GG oio:hasExactSynonym CMD1GG OMIM:613642 cardiomyopathy, dilated, 1gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1GG OMIM:613642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, autosomal dominant, susceptibility to parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 MONDO:0013342 hereditary spastic paraplegia 48 oio:hasExactSynonym SPG48 OMIM:613647 spastic paraplegia 48, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG48 OMIM:613647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 C1q deficiency OMIM:613652 -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL C1Q deficiency OMIM:613652 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency OMIMPS:613652 C1q deficiency C1q deficiency OMIMPS:613652 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency C1q deficiency OMIMPS:613652 C1q deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL C1Q deficiency OMIMPS:613652 MONDO:0013345 d-2-hydroxyglutaric aciduria 2 oio:hasExactSynonym d-2-hydroxyglutaric aciduria 2 OMIM:613657 d-2-hydroxyglutaric aciduria 2 d-2-hydroxyglutaric aciduria 2 OMIM:613657 @@ -7046,10 +6849,8 @@ MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym N MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Van Asperen syndrome Van Asperen syndrome van asperen syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb Van Asperen syndrome OMIM:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-mb OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb chromosome 17q11.2 deletion syndrome, 1.4-MB OMIM:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis 1 microdeletion syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb neurofibromatosis 1 microdeletion syndrome OMIM:613675 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microduplication syndrome NF1 microduplication syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb NF1 microduplication syndrome OMIM:618874 MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym Seckel syndrome 4 Seckel syndrome 4 seckel syndrome 4 OMIM:613676 seckel syndrome 4 Seckel syndrome 4 OMIM:613676 MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym SCKL4 OMIM:613676 seckel syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCKL4 OMIM:613676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013359 familial hyperaldosteronism type III oio:hasExactSynonym FH3 FH3 fh3 OMIM:603776 hypercholesterolemia, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FH3 OMIM:603776 MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia type 2 OMIM:613678 brachyolmia type 2 brachyolmia type 2 OMIM:613678 MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia, Maroteaux type brachyolmia, Maroteaux type brachyolmia, maroteaux type OMIM:613678 brachyolmia type 2 brachyolmia, Maroteaux type OMIM:613678 MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oio:hasExactSynonym Beaulieu-Boycott-Innes syndrome Beaulieu-Boycott-Innes syndrome beaulieu-boycott-innes syndrome OMIM:613680 beaulieu-boycott-innes syndrome Beaulieu-Boycott-Innes syndrome OMIM:613680 @@ -7379,7 +7180,6 @@ MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 oio:hasExactSy MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O oio:hasExactSynonym CMT2O OMIM:614228 charcot-marie-tooth disease, axonal, type 2o http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2O OMIM:614228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 oio:hasExactSynonym SCAR11 OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR11 OMIM:614229 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013646 chromosome 8q21.11 deletion syndrome oio:hasExactSynonym chromosome 8q21.11 deletion syndrome OMIM:614230 chromosome 8q21.11 deletion syndrome chromosome 8q21.11 deletion syndrome OMIM:614230 -MONDO:0013648 familial progressive hyperpigmentation oio:hasExactSynonym melanosis universalis hereditaria OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive melanosis universalis hereditaria OMIM:145250 MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym hypotrichosis 9 OMIM:614237 hypotrichosis 9 hypotrichosis 9 OMIM:614237 MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym HYPT9 hypt9 HYPT9 OMIM:614237 hypotrichosis 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT9 OMIM:614237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013650 hypotrichosis 10 oio:hasExactSynonym hypotrichosis 10 OMIM:614238 hypotrichosis 10 hypotrichosis 10 OMIM:614238 @@ -7394,7 +7194,6 @@ MONDO:0013659 microcephaly-capillary malformation syndrome oio:hasExactSynonym MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy oio:hasExactSynonym arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, perthes disease, and upward gaze palsy OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy arthrogryposis, Perthes disease, and upward gaze palsy OMIM:614262 MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym combined malonic and methylmalonic aciduria OMIM:614265 combined malonic and methylmalonic aciduria combined malonic and methylmalonic aciduria OMIM:614265 MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym CMAMMA OMIM:614265 combined malonic and methylmalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMAMMA OMIM:614265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE OMIM:130710 emphysema, congenital lobar http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE OMIM:130710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym Barrett esophagus Barrett esophagus barrett esophagus OMIM:614266 barrett esophagus Barrett esophagus OMIM:614266 MONDO:0013663 platelet-activating factor acetylhydrolase deficiency oio:hasExactSynonym platelet-activating factor acetylhydrolase deficiency OMIM:614278 platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency OMIM:614278 MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 @@ -7524,7 +7323,6 @@ MONDO:0013785 intellectual disability, autosomal recessive 34 oio:hasExactSynony MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 retinal dystrophy with early macular involvement OMIM:614500 MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym cone-rod dystrophy 16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy 16 OMIM:614500 MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym CORD16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD16 OMIM:614500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 retinal dystrophy with early macular involvement OMIM:616502 MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 MONDO:0013788 Usher syndrome type 3B oio:hasExactSynonym USH3B OMIM:614504 usher syndrome, type 3b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION USH3B OMIM:614504 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7718,7 +7516,6 @@ MONDO:0013976 ectodermal dysplasia 9, hair/nail type oio:hasExactSynonym ectode MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSynonym COXPD13 OMIM:614932 combined oxidative phosphorylation deficiency 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD13 OMIM:614932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym CILD19 OMIM:614935 ciliary dyskinesia, primary, 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CILD19 OMIM:614935 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013980 palmoplantar keratoderma, punctate type ib oio:hasExactSynonym PPKP1B OMIM:614936 palmoplantar keratoderma, punctate type 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPKP1B OMIM:614936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013981 myoclonus, familial oio:hasExactSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 myoclonus, familial cortical OMIM:614937 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 MONDO:0013986 combined oxidative phosphorylation defect type 14 oio:hasExactSynonym COXPD14 OMIM:614946 combined oxidative phosphorylation deficiency 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD14 OMIM:614946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7733,7 +7530,6 @@ MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 OMIM MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym Joubert syndrome 20 Joubert syndrome 20 joubert syndrome 20 OMIM:614970 joubert syndrome 20 Joubert syndrome 20 OMIM:614970 MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym JBTS20 OMIM:614970 joubert syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS20 OMIM:614970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 oio:hasExactSynonym cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome setleis syndrome OMIM:227260 focal facial dermal dysplasia 3, setleis type Setleis Syndrome OMIM:227260 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, brauer-setleis type OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type focal facial dermal dysplasia 2, Brauer-Setleis type OMIM:614973 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FFDD2 OMIM:614973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013997 focal facial dermal dysplasia type IV oio:hasExactSynonym focal facial dermal dysplasia 4 OMIM:614974 focal facial dermal dysplasia 4 focal facial dermal dysplasia 4 OMIM:614974 @@ -7825,7 +7621,6 @@ MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oio:hasExactSynonym MSPC OMIM:615225 palmoplantar carcinoma, multiple self-healing http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSPC OMIM:615225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014090 polydactyly, postaxial, type A6 oio:hasExactSynonym polydactyly, postaxial, type A6 polydactyly, postaxial, type A6 polydactyly, postaxial, type a6 OMIM:615226 polydactyly, postaxial, type a6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL polydactyly, postaxial, type A6 OMIM:615226 MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B oio:hasExactSynonym MC5DN4B OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MC5DN4B OMIM:615228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 duplication syndrome, 362-kb OMIM:613959 schizophrenia 16 chromosome 7q36.3 Duplication syndrome, 362-Kb OMIM:613959 MONDO:0014092 schizophrenia 18 oio:hasExactSynonym schizophrenia 18 OMIM:615232 schizophrenia 18 schizophrenia 18 OMIM:615232 MONDO:0014092 schizophrenia 18 oio:hasExactSynonym SCZD18 OMIM:615232 schizophrenia 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD18 OMIM:615232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014093 retinitis pigmentosa 66 oio:hasExactSynonym retinitis pigmentosa 66 OMIM:615233 retinitis pigmentosa 66 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa 66 OMIM:615233 @@ -7909,7 +7704,6 @@ MONDO:0014173 microcephaly 11, primary, autosomal recessive oio:hasExactSynonym MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 oio:hasExactSynonym renal-hepatic-pancreatic dysplasia 2 OMIM:615415 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal-hepatic-pancreatic dysplasia 2 OMIM:615415 MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM:615418 MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym MTDPS12B OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MTDPS12B OMIM:615418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym IHPRF IHPRF ihprf OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION IHPRF OMIM:615419 MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies Hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 MONDO:0014177 myopia 22, autosomal dominant oio:hasExactSynonym myopia 22, autosomal dominant OMIM:615420 myopia 22, autosomal dominant myopia 22, autosomal dominant OMIM:615420 MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 oio:hasExactSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 OMIM:615422 @@ -8420,7 +8214,6 @@ MONDO:0014677 achromatopsia 7 oio:hasExactSynonym ACHM7 OMIM:616517 achromato MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym intellectual developmental disorder, autosomal dominant 39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 intellectual developmental disorder, autosomal dominant 39 OMIM:616521 MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym MRD39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRD39 OMIM:616521 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis oio:hasExactSynonym polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 MONDO:0014681 thyroid cancer, nonmedullary, 4 oio:hasExactSynonym thyroid cancer, nonmedullary, 4 OMIM:616534 thyroid cancer, nonmedullary, 4 thyroid cancer, nonmedullary, 4 OMIM:616534 MONDO:0014682 thyroid cancer, nonmedullary, 5 oio:hasExactSynonym thyroid cancer, nonmedullary, 5 OMIM:616535 thyroid cancer, nonmedullary, 5 thyroid cancer, nonmedullary, 5 OMIM:616535 MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 OMIM:616540 epilepsy, progressive myoclonic, 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM9 OMIM:616540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8874,7 +8667,6 @@ MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym Harel-Yoon syndrome Harel MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym HAYOS OMIM:617183 harel-yoon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HAYOS OMIM:617183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym MTDPS12A OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MTDPS12A OMIM:617184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym PEBEL PEBEL pebel OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PEBEL OMIM:617186 MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym spermatogenic failure 16 OMIM:617187 spermatogenic failure 16 spermatogenic failure 16 OMIM:617187 MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym SPGF16 OMIM:617187 spermatogenic failure 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF16 OMIM:617187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8908,7 +8700,6 @@ MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:ha MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2z OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 muscular dystrophy, limb-girdle, type 2Z OMIM:617232 MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym myoclonus, intractable, neonatal OMIM:617235 myoclonus, intractable, neonatal myoclonus, intractable, neonatal OMIM:617235 MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym NEIMY OMIM:617235 myoclonus, intractable, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEIMY OMIM:617235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym CRDHL CRDHL crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRDHL OMIM:617236 MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy and hearing loss OMIMPS:617236 MONDO:0014981 immunodeficiency 49 oio:hasExactSynonym IMD49 OMIM:617237 immunodeficiency 49, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD49 OMIM:617237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014982 myopia 25, autosomal dominant oio:hasExactSynonym myopia 25, autosomal dominant OMIM:617238 myopia 25, autosomal dominant myopia 25, autosomal dominant OMIM:617238 @@ -8994,56 +8785,29 @@ MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive Muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita OMIMPS:617468 MONDO:0015229 Bardet-Biedl syndrome oio:hasExactSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bardet-Biedl syndrome OMIMPS:209900 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Aase syndrome Aase syndrome aase syndrome OMIM:105650 diamond-blackfan anemia 1 Aase syndrome OMIM:105650 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 erythrogenesis imperfecta OMIM:105650 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DBA OMIM:105650 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia OMIMPS:105650 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Diamond-Blackfan anemia OMIMPS:105650 -MONDO:0015263 Brugada syndrome oio:hasExactSynonym right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, st segment elevation, and sudden death syndrome OMIM:601144 brugada syndrome 1 right bundle branch block, ST segment elevation, and sudden death syndrome OMIM:601144 -MONDO:0015263 Brugada syndrome oio:hasExactSynonym sudden unexplained nocturnal death syndrome OMIM:601144 brugada syndrome 1 sudden unexplained nocturnal death syndrome OMIM:601144 MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome OMIMPS:601144 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome OMIMPS:601144 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome ODED syndrome oded syndrome OMIM:164280 feingold syndrome 1 ODED syndrome OMIM:164280 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 feingold syndrome 1 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym butyrylcholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL butyrylcholinesterase deficiency OMIM:617936 -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC OMIM:163000 capillary malformations, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMC OMIM:163000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym familial candidiasis familial candidiasis Familial candidiasis OMIMPS:114580 Familial candidiasis familial candidiasis OMIMPS:114580 -MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 CFC syndrome OMIM:115150 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cardiofaciocutaneous syndrome OMIMPS:115150 MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym Nf1 Microduplication Syndrome Nf1 Microduplication Syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb Nf1 Microduplication Syndrome OMIM:618874 MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym HMN 5A HMN 5A hmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 HMN 5A OMIM:600794 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym dHMN 5A dHMN 5A dhmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 dHMN 5A OMIM:600794 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym indifference to pain, Congenital, autosomal recessive indifference to pain, Congenital, autosomal recessive indifference to pain, congenital, autosomal recessive OMIM:243000 indifference to pain, congenital, autosomal recessive indifference to pain, Congenital, autosomal recessive OMIM:243000 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP OMIM:243000 indifference to pain, congenital, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIP OMIM:243000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy OMIMPS:162400 Hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy OMIMPS:162400 -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD OFD ofd OMIM:607278 osteofibrous dysplasia, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD OMIM:607278 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome OMIMPS:311200 Orofaciodigital syndrome orofaciodigital syndrome OMIMPS:311200 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym Goldenhar syndrome Goldenhar syndrome goldenhar syndrome OMIM:164210 craniofacial microsomia 1 Goldenhar syndrome OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym OAV dysplasia OAV dysplasia oav dysplasia OMIM:164210 craniofacial microsomia 1 OAV dysplasia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym hemifacial microsomia OMIM:164210 craniofacial microsomia 1 hemifacial microsomia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral dysplasia OMIM:164210 craniofacial microsomia 1 oculoauriculovertebral dysplasia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral spectrum OMIM:164210 craniofacial microsomia 1 oculoauriculovertebral spectrum OMIM:164210 -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 desbuquois syndrome OMIM:251450 -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia OMIMPS:251450 Desbuquois dysplasia Desbuquois dysplasia OMIMPS:251450 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 fifth digit syndrome OMIM:135900 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome Coffin-Siris syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome OMIM:135900 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome OMIMPS:135900 MONDO:0015486 keratoconus oio:hasExactSynonym keratoconus keratoconus Keratoconus OMIMPS:148300 Keratoconus keratoconus OMIMPS:148300 -MONDO:0015526 cold-induced sweating syndrome oio:hasExactSynonym Sohar-Crisponi syndrome Sohar-Crisponi syndrome sohar-crisponi syndrome OMIM:272430 crisponi/cold-induced sweating syndrome 1 Sohar-Crisponi syndrome OMIM:272430 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym Van Esch-O'Driscoll syndrome Van Esch-O'Driscoll syndrome van esch-o'driscoll syndrome OMIM:301030 van esch-o'driscoll syndrome Van Esch-O'Driscoll syndrome OMIM:301030 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, x-linked, syndromic, van esch-o'driscoll type OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type OMIM:301030 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VEODS OMIM:301030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b peroneal muscular atrophy OMIM:118200 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease OMIMPS:118220 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease OMIMPS:118220 MONDO:0015643 photosensitive epilepsy oio:hasExactSynonym photoparoxysmal response photoparoxysmal response Photoparoxysmal response OMIMPS:132100 Photoparoxysmal response photoparoxysmal response OMIMPS:132100 MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency oio:hasExactSynonym vitamin K-dependent clotting factors, combined deficiency of vitamin K-dependent clotting factors, combined deficiency of Vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 White sponge nevus of Cannon OMIM:193900 -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus of Cannon white sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 white sponge nevus of Cannon OMIM:193900 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus white sponge nevus White sponge nevus OMIMPS:193900 White sponge nevus white sponge nevus OMIMPS:193900 MONDO:0015762 progressive familial intrahepatic cholestasis oio:hasExactSynonym cholestasis, progressive familial intrahepatic cholestasis, progressive familial intrahepatic Cholestasis, progressive familial intrahepatic OMIMPS:211600 Cholestasis, progressive familial intrahepatic cholestasis, progressive familial intrahepatic OMIMPS:211600 -MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 chondrodysplasia punctata, rhizomelic form OMIM:215100 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata OMIMPS:215100 Rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL rhizomelic chondrodysplasia punctata OMIMPS:215100 MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita dyskeratosis congenita Dyskeratosis congenita OMIMPS:127550 Dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dyskeratosis congenita OMIMPS:127550 MONDO:0015827 distal renal tubular acidosis oio:hasExactSynonym distal renal tubular acidosis distal renal tubular acidosis Distal renal tubular acidosis OMIMPS:179800 Distal renal tubular acidosis distal renal tubular acidosis OMIMPS:179800 @@ -9058,23 +8822,18 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia OMIMPS:305620 Frontometaphyseal dysplasia frontometaphyseal dysplasia OMIMPS:305620 MONDO:0015977 agammaglobulinemia oio:hasExactSynonym agammaglobulinemia agammaglobulinemia Agammaglobulinemia OMIMPS:601495 Agammaglobulinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL agammaglobulinemia OMIMPS:601495 -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym cone-rod retinal dystrophy OMIM:120970 cone-rod dystrophy 2 cone-rod retinal dystrophy OMIM:120970 MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynonym pigmented nodular adrenocortical disease, primary pigmented nodular adrenocortical disease, primary Pigmented nodular adrenocortical disease, primary OMIMPS:610489 Pigmented nodular adrenocortical disease, primary pigmented nodular adrenocortical disease, primary OMIMPS:610489 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym EDS 6 EDS 6 eds 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 EDS 6 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 6 Ehlers-Danlos syndrome, type 6 ehlers-danlos syndrome, type 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, type 6 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym nevo syndrome OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED nevo syndrome OMIM:225400 MONDO:0016027 benign neonatal seizures oio:hasExactSynonym seizures, benign familial neonatal seizures, benign familial neonatal Seizures, benign familial neonatal OMIMPS:121200 Seizures, benign familial neonatal seizures, benign familial neonatal OMIMPS:121200 -MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Brachmann-de Lange syndrome Brachmann-de Lange syndrome brachmann-de lange syndrome OMIM:122470 cornelia lange lange syndrome 1 Brachmann-de Lange syndrome OMIM:122470 MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Cornelia de Lange syndrome OMIMPS:122470 Cornelia de Lange syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cornelia de Lange syndrome OMIMPS:122470 -MONDO:0016063 Cowden disease oio:hasExactSynonym multiple hamartoma syndrome OMIM:158350 cowden syndrome 1 multiple hamartoma syndrome OMIM:158350 MONDO:0016063 Cowden disease oio:hasExactSynonym Cowden disease OMIMPS:158350 Cowden disease Cowden disease OMIMPS:158350 MONDO:0016073 syndromic microphthalmia oio:hasExactSynonym microphthalmia, syndromic microphthalmia, syndromic Microphthalmia, syndromic OMIMPS:309800 Microphthalmia, syndromic microphthalmia, syndromic OMIMPS:309800 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym SCA7 OMIM:164500 spinocerebellar ataxia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA7 OMIM:164500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym spastic quadriplegic cerebral palsy spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy OMIMPS:612900 Spastic quadriplegic cerebral palsy spastic quadriplegic cerebral palsy OMIMPS:612900 MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym episodic ataxia episodic ataxia Episodic ataxia OMIMPS:160120 Episodic ataxia episodic ataxia OMIMPS:160120 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC OMIM:300200 adrenal hypoplasia, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHC OMIM:300200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood alternating hemiplegia of childhood Alternating hemiplegia of childhood OMIMPS:104290 Alternating hemiplegia of childhood alternating hemiplegia of childhood OMIMPS:104290 -MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 MONDO:0016293 congenital stationary night blindness oio:hasExactSynonym night blindness, congenital stationary night blindness, congenital stationary Night blindness, congenital stationary OMIMPS:310500 Night blindness, congenital stationary night blindness, congenital stationary OMIMPS:310500 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym Hirschsprung disease with type d brachydactyly Hirschsprung disease with type d brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly Hirschsprung disease with type d brachydactyly OMIM:306980 @@ -9087,37 +8846,21 @@ MONDO:0016381 hypertrichosis lanuginosa congenita oio:hasExactSynonym hypertric MONDO:0016390 familial hypoparathyroidism oio:hasExactSynonym hypoparathyroidism, familial hypoparathyroidism, familial Hypoparathyroidism, familial OMIMPS:146200 Hypoparathyroidism, familial hypoparathyroidism, familial OMIMPS:146200 MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome OMIMPS:609322 Rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome OMIMPS:609322 MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym aneurysm, intracranial berry aneurysm, intracranial berry Aneurysm, intracranial berry OMIMPS:105800 Aneurysm, intracranial berry aneurysm, intracranial berry OMIMPS:105800 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Kabuki make-up syndrome Kabuki make-up syndrome kabuki make-up syndrome OMIM:147920 kabuki syndrome 1 Kabuki make-up syndrome OMIM:147920 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 Niikawa-Kuroki syndrome OMIM:147920 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym KMS KMS kms OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION KMS OMIM:308700 -MONDO:0016516 Kenny-Caffey syndrome oio:hasExactSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 Kenny syndrome OMIM:127000 MONDO:0016537 lymphoproliferative syndrome oio:hasExactSynonym lymphoproliferative syndrome lymphoproliferative syndrome Lymphoproliferative syndrome OMIMPS:308240 Lymphoproliferative syndrome lymphoproliferative syndrome OMIMPS:308240 -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:244400 -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly OMIM:183600 split-hand/foot malformation 1 ectrodactyly OMIM:183600 -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand deformity OMIM:183600 split-hand/foot malformation 1 split-hand deformity OMIM:183600 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot malformation split-hand/foot malformation Split-hand/foot malformation OMIMPS:183600 Split-hand/foot malformation split-hand/foot malformation OMIMPS:183600 MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym conotruncal heart malformations OMIM:217095 conotruncal heart malformations conotruncal heart malformations OMIM:217095 MONDO:0016584 mandibuloacral dysplasia oio:hasExactSynonym mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia with lipodystrophy Mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym Mabry syndrome Mabry syndrome mabry syndrome OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 Mabry syndrome OMIM:239300 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome hyperphosphatasia with mental retardation syndrome Hyperphosphatasia with mental retardation syndrome OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome OMIMPS:239300 -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Touraine-Solente-Gole syndrome OMIM:259100 MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym hypertropic osteoarthropathy, primary hypertropic osteoarthropathy, primary Hypertropic osteoarthropathy, primary OMIMPS:259100 Hypertropic osteoarthropathy, primary hypertropic osteoarthropathy, primary OMIMPS:259100 -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome Warburg micro syndrome warburg micro syndrome OMIM:600118 warburg micro syndrome 1 Warburg micro syndrome OMIM:600118 -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 micro syndrome OMIM:600118 MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome OMIMPS:600118 Warburg micro syndrome Warburg micro syndrome OMIMPS:600118 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym DA10 OMIM:187370 arthrogryposis, distal, type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DA10 OMIM:187370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia OMIM:184250 MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia OMIMPS:184255 -MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 Meier-Gorlin syndrome OMIM:224690 MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome Meier-Gorlin syndrome OMIMPS:224690 MONDO:0016824 infantile myofibromatosis oio:hasExactSynonym infantile myofibromatosis infantile myofibromatosis Infantile myofibromatosis OMIMPS:228550 Infantile myofibromatosis infantile myofibromatosis OMIMPS:228550 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome oio:hasExactSynonym mitochondrial myopathy with lactic acidosis OMIM:251950 mitochondrial myopathy with lactic acidosis mitochondrial myopathy with lactic acidosis OMIM:251950 MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreifuss muscular dystrophy OMIMPS:310300 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Emery-Dreifuss muscular dystrophy OMIMPS:310300 -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym ARC syndrome ARC syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 ARC syndrome OMIM:208085 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis arthrogryposis, renal dysfunction, and cholestasis Arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple endocrine neoplasia OMIMPS:131100 Multiple endocrine neoplasia multiple endocrine neoplasia OMIMPS:131100 -MONDO:0017195 Bruck syndrome oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures OMIM:609220 bruck syndrome 2 osteogenesis imperfecta with congenital joint contractures OMIM:609220 MONDO:0017265 autosomal recessive congenital ichthyosis oio:hasExactSynonym ichthyosis, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive Ichthyosis, congenital, autosomal recessive OMIMPS:242300 Ichthyosis, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive OMIMPS:242300 MONDO:0017312 Perrault syndrome oio:hasExactSynonym Perrault syndrome OMIMPS:233400 Perrault syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Perrault syndrome OMIMPS:233400 MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome OMIMPS:605711 @@ -9125,9 +8868,7 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile intestin MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym polyposis, juvenile intestinal OMIM:174900 juvenile polyposis syndrome polyposis, juvenile intestinal OMIM:174900 MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposis syndrome OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL juvenile polyposis syndrome OMIM:174900 MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym JPS jPS JPS OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION JPS OMIM:174900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017398 3MC syndrome oio:hasExactSynonym oculopalatoskeletal syndrome OMIM:257920 3mc syndrome 1 oculopalatoskeletal syndrome OMIM:257920 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym Mitchell-Riley syndrome Mitchell-Riley syndrome mitchell-riley syndrome OMIM:615710 mitchell-riley syndrome Mitchell-Riley syndrome OMIM:615710 -MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS LCCS lccs OMIM:253310 lethal congenital contracture syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS OMIM:253310 MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome oio:hasExactSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly TPT-PS syndrome OMIM:190605 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome OMIMPS:243310 Baraitser-Winter syndrome Baraitser-Winter syndrome OMIMPS:243310 MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex OMIMPS:131760 Epidermolysis Bullosa Simplex epidermolysis bullosa simplex OMIMPS:131760 @@ -9136,27 +8877,15 @@ MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:h MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym polyposis, gastric OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach polyposis, gastric OMIM:619182 MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym GAPPS OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GAPPS OMIM:619182 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome OMIMPS:601390 Van Maldergem syndrome Van Maldergem syndrome OMIMPS:601390 -MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly OMIM:269500 sclerosteosis 1 cortical hyperostosis with syndactyly OMIM:269500 -MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 renal-retinal syndrome OMIM:266900 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis OMIM:133200 MONDO:0017868 diencephalic-mesencephalic junction dysplasia oio:hasExactSynonym diencephalic-mesencephalic junction dysplasia syndrome diencephalic-mesencephalic junction dysplasia syndrome Diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 MONDO:0017896 familial nonmedullary thyroid carcinoma oio:hasExactSynonym thyroid cancer, nonmedullary thyroid cancer, nonmedullary Thyroid cancer, nonmedullary OMIMPS:188550 Thyroid cancer, nonmedullary thyroid cancer, nonmedullary OMIMPS:188550 -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC EEC eec OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC OMIM:129900 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex oeis complex OMIM:258040 oeis complex OEIS complex OMIM:258040 -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome WL syndrome wl syndrome OMIM:186500 multiple synostoses syndrome 1 WL syndrome OMIM:186500 -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-brachydactyly syndrome OMIM:186500 multiple synostoses syndrome 1 symphalangism-brachydactyly syndrome OMIM:186500 MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic Ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Takayasu arteritis takayasu arteritis OMIM:207600 takayasu arteritis Takayasu arteritis OMIM:207600 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym aortic arch syndrome OMIM:207600 takayasu arteritis aortic arch syndrome OMIM:207600 MONDO:0018023 hemoglobin M disease oio:hasExactSynonym methemoglobinemia, beta type OMIM:617971 methemoglobinemia, beta type methemoglobinemia, beta type OMIM:617971 MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome OMIMPS:147060 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome OMIMPS:193500 Waardenburg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome OMIMPS:193500 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 mesodermal Dysmorphodystrophy, congenital OMIM:277600 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 spherophakia-brachymorphia syndrome OMIM:277600 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 mesodermal Dysmorphodystrophy, congenital OMIM:608328 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 spherophakia-brachymorphia syndrome OMIM:608328 -MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG HOMG homg OMIM:602014 hypomagnesemia 1, intestinal http://purl.obolibrary.org/obo/mondo#ABBREVIATION HOMG OMIM:602014 -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency OMIM:278300 xanthinuria, type 1 xanthine dehydrogenase deficiency OMIM:278300 MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia galactosemia OMIMPS:230400 MONDO:0018130 brain dopamine-serotonin vesicular transport disease oio:hasExactSynonym PKDYS2 OMIM:618049 parkinsonism-dystonia 2, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKDYS2 OMIM:618049 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018151 coenzyme Q10 deficiency oio:hasExactSynonym coenzyme Q10 deficiency, primary coenzyme Q10 deficiency, primary Coenzyme Q10 deficiency, primary OMIMPS:607426 Coenzyme Q10 deficiency, primary coenzyme Q10 deficiency, primary OMIMPS:607426 @@ -9168,7 +8897,6 @@ MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2a OMIM:219200 cutis laxa, autosomal recessive, type 2a cutis laxa, autosomal recessive, type 2A OMIM:219200 MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, debre type OMIM:219200 cutis laxa, autosomal recessive, type 2a cutis laxa, debre type OMIM:219200 MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym ARCL2A OMIM:219200 cutis laxa, autosomal recessive, type 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCL2A OMIM:219200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy oio:hasExactSynonym SMALED SMALED smaled OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMALED OMIM:158600 MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym epilepsy, generalized, with febrile seizures plus epilepsy, generalized, with febrile seizures plus Epilepsy, generalized, with febrile seizures plus OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus epilepsy, generalized, with febrile seizures plus OMIMPS:604233 MONDO:0018264 oculocutaneous albinism type 6 oio:hasExactSynonym OCA6 OMIM:113750 albinism, oculocutaneous, type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCA6 OMIM:113750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym Amish infantile epilepsy syndrome Amish infantile epilepsy syndrome amish infantile epilepsy syndrome OMIM:609056 salt and pepper developmental regression syndrome Amish infantile epilepsy syndrome OMIM:609056 @@ -9176,10 +8904,7 @@ MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym epilepsy syndrome, in MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt and pepper developmental regression syndrome OMIM:609056 salt and pepper developmental regression syndrome salt and pepper developmental regression syndrome OMIM:609056 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym GM3 synthase deficiency GM3 synthase deficiency gm3 synthase deficiency OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL GM3 synthase deficiency OMIM:609056 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym SPDRS OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPDRS OMIM:609056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym CGD CGD cgd OMIM:306400 granulomatous disease, chronic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD OMIM:306400 MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation OMIMPS:234200 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation OMIMPS:234200 -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 Hirschsprung disease OMIM:142623 -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 aganglionic megacolon OMIM:142623 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease Hirschsprung disease OMIMPS:142623 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis langerhans cell histiocytosis OMIM:604856 langerhans cell histiocytosis Langerhans cell histiocytosis OMIM:604856 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH LCH lch OMIM:604856 langerhans cell histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCH OMIM:604856 @@ -9188,13 +8913,8 @@ MONDO:0018382 epiphysiolysis of the hip oio:hasExactSynonym slipped femoral cap MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym glow syndrome OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor glow syndrome OMIM:618272 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym GLOW OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GLOW OMIM:618272 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018470 renal agenesis oio:hasExactSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 hereditary renal aplasia OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 renal adysplasia OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis OMIM:191830 renal hypodysplasia/aplasia 1 renal agenesis OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 renal aplasia OMIM:191830 MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym Broad-betalipoproteinemia Broad-betalipoproteinemia broad-betalipoproteinemia OMIM:617347 hyperlipoproteinemia, type 3 Broad-betalipoproteinemia OMIM:617347 MONDO:0018542 severe congenital neutropenia oio:hasExactSynonym neutropenia, severe congenital neutropenia, severe congenital Neutropenia, severe congenital OMIMPS:202700 Neutropenia, severe congenital neutropenia, severe congenital OMIMPS:202700 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis OMIM:272100 sudanophilic cerebral sclerosis sudanophilic cerebral sclerosis OMIM:272100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease siemerling-creutzfeldt disease OMIM:300100 adrenoleukodystrophy Siemerling-Creutzfeldt disease OMIM:300100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-ALD X-ALD x-ald OMIM:300100 adrenoleukodystrophy X-ALD OMIM:300100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym adrenoleukodystrophy OMIM:300100 adrenoleukodystrophy adrenoleukodystrophy OMIM:300100 @@ -9210,12 +8930,8 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy, visceral hete MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome Adie Syndrome adie syndrome OMIM:103100 adie pupil Adie Syndrome OMIM:103100 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie pupil Adie pupil adie pupil OMIM:103100 adie pupil Adie pupil OMIM:103100 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Adie syndrome adie syndrome OMIM:103100 adie pupil Adie syndrome OMIM:103100 -MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym FCAS FCAS fcas OMIM:120100 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FCAS OMIM:120100 MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome OMIMPS:120100 Familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome OMIMPS:120100 -MONDO:0018770 Jeune syndrome oio:hasExactSynonym Jeune syndrome Jeune syndrome jeune syndrome OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly Jeune syndrome OMIM:208500 MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia short-rib thoracic dysplasia Short-rib thoracic dysplasia OMIMPS:208500 Short-rib thoracic dysplasia short-rib thoracic dysplasia OMIMPS:208500 -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 Joubert-Boltshauser syndrome OMIM:213300 -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome OMIM:213300 MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome OMIMPS:213300 MONDO:0018805 bile duct cyst oio:hasExactSynonym bile duct cysts OMIM:603003 bile duct cysts bile duct cysts OMIM:603003 MONDO:0018805 bile duct cyst oio:hasExactSynonym choledochal cysts OMIM:603003 bile duct cysts choledochal cysts OMIM:603003 @@ -9227,33 +8943,25 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly OMIMPS:607432 Lissencephaly lissencephaly OMIMPS:607432 MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym bile acid synthesis defect, congenital bile acid synthesis defect, congenital Bile acid synthesis defect, congenital OMIMPS:607765 Bile acid synthesis defect, congenital bile acid synthesis defect, congenital OMIMPS:607765 MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym keratosis pilaris atrophicans OMIM:604093 keratosis pilaris atrophicans keratosis pilaris atrophicans OMIM:604093 -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym Cree encephalitis Cree encephalitis cree encephalitis OMIM:225750 aicardi-goutieres syndrome 1 Cree encephalitis OMIM:225750 -MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym idiopathic infantile arterial calcification OMIM:208000 arterial calcification, generalized, of infancy, 1 idiopathic infantile arterial calcification OMIM:208000 MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym Generalized Arterial Calcification of Infancy Generalized Arterial Calcification of Infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy Generalized Arterial Calcification of Infancy OMIMPS:208000 MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym generalized arterial calcification of infancy generalized arterial calcification of infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy generalized arterial calcification of infancy OMIMPS:208000 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML OMIM:601626 leukemia, acute myeloid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AML OMIM:601626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym SBLA syndrome SBLA syndrome sbla syndrome OMIM:151623 li-fraumeni syndrome SBLA syndrome OMIM:151623 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome li-fraumeni syndrome OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome OMIM:151623 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LFS OMIM:151623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia OMIM:602588 branchiootic syndrome 1 branchiootic dysplasia OMIM:602588 -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS MDS mds OMIM:247200 miller-dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS OMIM:247200 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome OMIM:614286 myelodysplastic syndrome myelodysplastic syndrome OMIM:614286 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS OMIM:614286 myelodysplastic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS OMIM:614286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym Mason-type diabetes Mason-type diabetes mason-type diabetes OMIM:606391 maturity-onset diabetes of the young Mason-type diabetes OMIM:606391 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maturity-onset diabetes of the young OMIM:606391 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY OMIM:606391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS OMIM:174800 mccune-albright syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS OMIM:174800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 Meckel-Gruber syndrome OMIM:249000 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym ML 3 alpha/beta ML 3 alpha/beta ml 3 alpha/beta OMIM:252600 mucolipidosis 3 alpha/beta ML 3 alpha/beta OMIM:252600 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym pseudo-Hurler polydystrophy pseudo-Hurler polydystrophy pseudo-hurler polydystrophy OMIM:252600 mucolipidosis 3 alpha/beta pseudo-Hurler polydystrophy OMIM:252600 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym myasthenic syndrome, congenital myasthenic syndrome, congenital Myasthenic syndrome, congenital OMIMPS:601462 Myasthenic syndrome, congenital myasthenic syndrome, congenital OMIMPS:601462 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym McLeod syndrome McLeod syndrome mcleod syndrome OMIM:300842 mcleod syndrome McLeod syndrome OMIM:300842 MONDO:0018947 centronuclear myopathy oio:hasExactSynonym myopathy, centronuclear myopathy, centronuclear Myopathy, centronuclear OMIMPS:160150 Myopathy, centronuclear myopathy, centronuclear OMIMPS:160150 -MONDO:0018953 parietal foramina oio:hasExactSynonym catlin marks OMIM:168500 parietal foramina 1 catlin marks OMIM:168500 -MONDO:0018953 parietal foramina oio:hasExactSynonym foramina parietalia permagna OMIM:168500 parietal foramina 1 foramina parietalia permagna OMIM:168500 MONDO:0018953 parietal foramina oio:hasExactSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parietal foramina OMIMPS:168500 MONDO:0018954 Loeys-Dietz syndrome oio:hasExactSynonym Loeys-Dietz syndrome OMIMPS:609192 Loeys-Dietz syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Loeys-Dietz syndrome OMIMPS:609192 -MONDO:0018958 nemaline myopathy oio:hasExactSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018958 nemaline myopathy oio:hasExactSynonym nemaline myopathy nemaline myopathy Nemaline myopathy OMIMPS:161800 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nemaline myopathy OMIMPS:161800 MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome OMIMPS:301050 Alport syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alport syndrome OMIMPS:301050 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis, type 1 OMIM:162200 neurofibromatosis, type 1 neurofibromatosis, type 1 OMIM:162200 @@ -9261,21 +8969,13 @@ MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym NF1 OMIM:162200 ne MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-ocular apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ataxia-ocular apraxia 2 OMIM:606002 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-oculomotor apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ataxia-oculomotor apraxia 2 OMIM:606002 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym SCAN2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAN2 OMIM:606002 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome OMIM:163950 MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome OMIMPS:163950 -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA OMIM:204000 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis OMIMPS:204000 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis OMIMPS:204000 MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis OMIMPS:256100 Nephronophthisis nephronophthisis OMIMPS:256100 MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic OMIMPS:243300 -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 Carpenter syndrome OMIM:201000 -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 acrocephalopolysyndactyly type 2 OMIM:201000 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome Carpenter syndrome OMIMPS:201000 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym mastocytosis, cutaneous OMIM:154800 mastocytosis, cutaneous mastocytosis, cutaneous OMIM:154800 -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome steele-richardson-olszewski syndrome OMIM:601104 supranuclear palsy, progressive, 1 Steele-Richardson-Olszewski syndrome OMIM:601104 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym 3C syndrome 3C syndrome 3c syndrome OMIM:220210 ritscher-schinzel syndrome 1 3C syndrome OMIM:220210 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 Craniocerebellocardiac dysplasia OMIM:220210 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 craniocerebellocardiac dysplasia OMIM:220210 MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome OMIMPS:220210 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LAL deficiency, partial LAL deficiency, partial lal deficiency, partial OMIM:278000 cholesteryl ester storage disease LAL deficiency, partial OMIM:278000 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LIPA deficiency, partial LIPA deficiency, partial lipa deficiency, partial OMIM:278000 cholesteryl ester storage disease LIPA deficiency, partial OMIM:278000 @@ -9284,56 +8984,32 @@ MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym lysosomal a MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym androgen insensitivity syndrome OMIM:300068 androgen insensitivity syndrome androgen insensitivity syndrome OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym testicular feminization syndrome OMIM:300068 androgen insensitivity syndrome testicular feminization syndrome OMIM:300068 MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym pseudohypoaldosteronism, type I pseudohypoaldosteronism, type I Pseudohypoaldosteronism, type I OMIMPS:177735 Pseudohypoaldosteronism, type I pseudohypoaldosteronism, type I OMIMPS:177735 -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym Gordon hyperkalemia-hypertension syndrome Gordon hyperkalemia-hypertension syndrome gordon hyperkalemia-hypertension syndrome OMIM:145260 pseudohypoaldosteronism, type 2a Gordon hyperkalemia-hypertension syndrome OMIM:145260 -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym familial hyperkalemic hypertension OMIM:614495 pseudohypoaldosteronism, type 2d familial hyperkalemic hypertension OMIM:614495 MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym pseudohypoaldosteronism, type II pseudohypoaldosteronism, type II Pseudohypoaldosteronism, type II OMIMPS:145260 Pseudohypoaldosteronism, type II pseudohypoaldosteronism, type II OMIMPS:145260 -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019165 central precocious puberty oio:hasExactSynonym precocious puberty, central precocious puberty, central Precocious puberty, central OMIMPS:176400 Precocious puberty, central precocious puberty, central OMIMPS:176400 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency Pyruvate Dehydrogenase Complex Deficiency OMIM:312170 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency pyruvate decarboxylase deficiency OMIM:312170 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency Pyruvate Dehydrogenase Complex Deficiency OMIMPS:312170 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency OMIMPS:312170 -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Romano-Ward syndrome Romano-Ward syndrome romano-ward syndrome OMIM:192500 long qt syndrome 1 Romano-Ward syndrome OMIM:192500 -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Ward-Romano syndrome Ward-Romano syndrome ward-romano syndrome OMIM:192500 long qt syndrome 1 Ward-Romano syndrome OMIM:192500 MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Long QT Syndrome Long QT Syndrome Long QT syndrome OMIMPS:192500 Long QT syndrome Long QT Syndrome OMIMPS:192500 -MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym HHT HHT hht OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHT OMIM:187300 MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym telangiectasia, hereditary hemorrhagic OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) telangiectasia, hereditary hemorrhagic OMIMPS:187300 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Broad thumb-hallux syndrome Broad thumb-hallux syndrome broad thumb-hallux syndrome OMIM:180849 rubinstein-taybi syndrome 1 Broad thumb-hallux syndrome OMIM:180849 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein syndrome Rubinstein syndrome rubinstein syndrome OMIM:180849 rubinstein-taybi syndrome 1 Rubinstein syndrome OMIM:180849 MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome OMIMPS:180849 Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome OMIMPS:180849 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa OMIM:268000 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa OMIMPS:268000 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder OMIM:601539 peroxisome biogenesis disorder 1b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder OMIM:601539 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder peroxisome biogenesis disorder Peroxisome biogenesis disorder OMIMPS:214100 Peroxisome biogenesis disorder http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder OMIMPS:214100 MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses Mucopolysaccharidoses OMIMPS:607014 MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym mucopolysaccharidoses mucopolysaccharidoses Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses mucopolysaccharidoses OMIMPS:607014 MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym nail disorder, nonsyndromic congenital nail disorder, nonsyndromic congenital Nail disorder, nonsyndromic congenital OMIMPS:161050 Nail disorder, nonsyndromic congenital nail disorder, nonsyndromic congenital OMIMPS:161050 MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) ectodermal dysplasia OMIMPS:305100 MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia (select examples) ectodermal dysplasia (select examples) Ectodermal dysplasia (select examples) OMIMPS:305100 Ectodermal dysplasia (select examples) ectodermal dysplasia (select examples) OMIMPS:305100 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym Seckel-type Dwarfism Seckel-type Dwarfism seckel-type dwarfism OMIM:210600 seckel syndrome 1 Seckel-type Dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym bird-headed dwarfism OMIM:210600 seckel syndrome 1 bird-headed dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym nanocephalic Dwarfism nanocephalic Dwarfism nanocephalic dwarfism OMIM:210600 seckel syndrome 1 nanocephalic Dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym SCKL SCKL sckl OMIM:210600 seckel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCKL OMIM:210600 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin OMIM:270300 peeling skin syndrome 1 deciduous skin OMIM:270300 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS OMIM:270300 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS OMIM:601224 MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism OMIM:117550 sotos syndrome cerebral gigantism OMIM:117550 MONDO:0019349 Sotos syndrome oio:hasExactSynonym chromosome 5q35 deletion syndrome OMIM:117550 sotos syndrome chromosome 5q35 deletion syndrome OMIM:117550 MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome Sotos syndrome sotos syndrome OMIM:117550 sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sotos syndrome OMIM:117550 MONDO:0019354 Stickler syndrome oio:hasExactSynonym Stickler syndrome OMIMPS:108300 Stickler syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Stickler syndrome OMIMPS:108300 -MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia OMIM:227650 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia OMIMPS:227650 Fanconi anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia OMIMPS:227650 -MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym CDA OMIM:607541 corneal dystrophy, avellino type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDA OMIM:607541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic Anemia, congenital dyserythropoietic OMIMPS:224120 Anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic OMIMPS:224120 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym Saul-Wilson syndrome Saul-Wilson syndrome saul-wilson syndrome OMIM:618150 saul-wilson syndrome Saul-Wilson syndrome OMIM:618150 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia OMIM:618150 saul-wilson syndrome microcephalic osteodysplastic dysplasia OMIM:618150 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym SWILS OMIM:618150 saul-wilson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWILS OMIM:618150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis OMIM:259750 osteoporosis, juvenile idiopathic juvenile osteoporosis OMIM:259750 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym SPTCL OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPTCL OMIM:618398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 anterior segment mesenchymal dysgenesis OMIM:107250 -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 anterior segment ocular dysgenesis OMIM:107250 -MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym Criswick-Schepens syndrome Criswick-Schepens syndrome criswick-schepens syndrome OMIM:133780 exudative vitreoretinopathy 1 Criswick-Schepens syndrome OMIM:133780 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type, 1 ehlers-danlos syndrome, classic type, 1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Ehlers-Danlos syndrome, classic type, 1 OMIM:130000 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym EDSCL1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSCL1 OMIM:130000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 2 ehlers-danlos syndrome, classic type, 2 OMIM:130010 ehlers-danlos syndrome, classic type, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Ehlers-Danlos syndrome, classic type, 2 OMIM:130010 @@ -9341,25 +9017,17 @@ MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym EDSCL MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome A Cockayne syndrome A Cockayne syndrome a OMIM:216400 Cockayne syndrome a Cockayne syndrome A OMIM:216400 MONDO:0019570 Cockayne syndrome type 2 oio:hasExactSynonym Cockayne syndrome B OMIM:133540 Cockayne syndrome B Cockayne syndrome B OMIM:133540 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes spondyloepimetaphyseal dysplasia, Pakistani type OMIM:612847 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym SEMDJL SEMDJL semdjl OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEMDJL OMIM:271640 MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 MONDO:0019719 congenital anomaly of kidney and urinary tract oio:hasExactSynonym congenital anomalies of kidney and urinary tract congenital anomalies of kidney and urinary tract Congenital anomalies of kidney and urinary tract OMIMPS:610805 Congenital anomalies of kidney and urinary tract congenital anomalies of kidney and urinary tract OMIMPS:610805 MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym rippling muscle disease 2 OMIM:606072 rippling muscle disease 2 rippling muscle disease 2 OMIM:606072 MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym RMD2 OMIM:606072 rippling muscle disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RMD2 OMIM:606072 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019978 Robinow syndrome oio:hasExactSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 Robinow dwarfism OMIM:180700 -MONDO:0019978 Robinow syndrome oio:hasExactSynonym acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 acral dysostosis with facial and genital abnormalities OMIM:180700 -MONDO:0019978 Robinow syndrome oio:hasExactSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 fetal face syndrome OMIM:180700 -MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg progressive myoclonic epilepsy OMIM:254800 MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym epilepsy, progressive myoclonic epilepsy, progressive myoclonic Epilepsy, progressive myoclonic OMIMPS:254800 Epilepsy, progressive myoclonic epilepsy, progressive myoclonic OMIMPS:254800 MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym lipodystrophy, familial partial lipodystrophy, familial partial Lipodystrophy, familial partial OMIMPS:151660 Lipodystrophy, familial partial lipodystrophy, familial partial OMIMPS:151660 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia pontocerebellar hypoplasia Pontocerebellar hypoplasia OMIMPS:607596 Pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pontocerebellar hypoplasia OMIMPS:607596 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect atrioventricular septal defect OMIM:606215 atrioventricular septal defect Atrioventricular Septal Defect OMIM:606215 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect Atrioventricular Septal Defect OMIMPS:606215 -MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 epilepsy, familial focal, with variable foci OMIM:604364 MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci OMIMPS:604364 MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventricular nodular heterotopia periventricular nodular heterotopia Periventricular nodular heterotopia OMIMPS:300049 Periventricular nodular heterotopia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL periventricular nodular heterotopia OMIMPS:300049 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym corneal dystrophy, posterior polymorphous corneal dystrophy, posterior polymorphous Corneal dystrophy, posterior polymorphous OMIMPS:122000 Corneal dystrophy, posterior polymorphous corneal dystrophy, posterior polymorphous OMIMPS:122000 -MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium OMIM:169150 macular dystrophy, patterned, 1 patterned dystrophy of retinal pigment epithelium OMIM:169150 MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym macular dystrophy, patterned macular dystrophy, patterned Macular dystrophy, patterned OMIMPS:169150 Macular dystrophy, patterned macular dystrophy, patterned OMIMPS:169150 MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction oio:hasExactSynonym adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym peho-like syndrome OMIM:617507 peho-like syndrome peho-like syndrome OMIM:617507 @@ -9505,7 +9173,6 @@ MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 o MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 hemochromatosis OMIM:235200 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis, type 1 OMIM:235200 hemochromatosis, type 1 hemochromatosis, type 1 OMIM:235200 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 OMIM:235200 hemochromatosis, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFE1 OMIM:235200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis hemochromatosis OMIMPS:235200 MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly OMIM:603596 polydactyly polydactyly OMIM:603596 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym chorea, benign hereditary OMIM:118700 chorea, benign hereditary chorea, benign hereditary OMIM:118700 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym hereditary progressive chorea without dementia OMIM:118700 chorea, benign hereditary hereditary progressive chorea without dementia OMIM:118700 @@ -9522,13 +9189,10 @@ MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym Crigler-Najjar MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, crigler-najjar type 1 OMIM:218800 crigler-najjar syndrome, type 1 hyperbilirubinemia, Crigler-Najjar type 1 OMIM:218800 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym Kok disease Kok disease kok disease OMIM:149400 hyperekplexia 1 Kok disease OMIM:149400 MONDO:0021024 malaria, susceptibility to oio:hasExactSynonym malaria, susceptibility to OMIM:611162 malaria, susceptibility to malaria, susceptibility to OMIM:611162 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-intellectual disability syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 alopecia-intellectual disability syndrome 1 OMIM:203650 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED alopecia-mental retardation syndrome 1 OMIM:203650 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym APMR1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED APMR1 OMIM:203650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 adenomatous polyposis of the colon OMIM:175100 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis Familial Adenomatous Polyposis OMIMPS:175100 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis familial adenomatous polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis familial adenomatous polyposis OMIMPS:175100 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 OMIM:175100 familial adenomatous polyposis 1 familial adenomatous polyposis 1 OMIM:175100 @@ -9581,7 +9245,6 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2G6-associated neurodegeneration, Pla2G6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2G6-associated OMIM:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2g6-associated OMIM:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2A OMIM:256600 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA2A OMIM:256600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 melanoma, cutaneous malignant OMIM:155600 MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant melanoma, cutaneous malignant OMIMPS:155600 MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 OMIM:233300 ovarian dysgenesis 1 ovarian dysgenesis 1 OMIM:233300 MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ODG1 OMIM:233300 ovarian dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ODG1 OMIM:233300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9683,7 +9346,6 @@ MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSy MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSynonym IMD98 OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD98 OMIM:301078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym immunodeficiency 102 OMIM:301082 immunodeficiency 102 immunodeficiency 102 OMIM:301082 MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym IMD102 OMIM:301082 immunodeficiency 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD102 OMIM:301082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 oculopharyngodistal myopathy OMIM:164310 MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy oculopharyngodistal myopathy OMIMPS:164310 MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym Linked syndrome Linked syndrome linked syndrome OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked Linked syndrome OMIM:301056 MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym MCAND OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCAND OMIM:301056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9961,7 +9623,6 @@ MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym spermatogenic failur MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym SPGF55 OMIM:619380 spermatogenic failure 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF55 OMIM:619380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym immunodeficiency 82 with systemic inflammation OMIM:619381 immunodeficiency 82 with systemic inflammation immunodeficiency 82 with systemic inflammation OMIM:619381 MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym IMD82 OMIM:619381 immunodeficiency 82 with systemic inflammation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD82 OMIM:619381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym LHONAR LHONAR lhonar OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LHONAR OMIM:619382 MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym combined oxidative phosphorylation deficiency 52 OMIM:619386 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 OMIM:619386 MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym COXPD52 OMIM:619386 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD52 OMIM:619386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11034,7 +10695,6 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym long QT syndrome 1 long QT MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 OMIM:192500 long qt syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LQT1 OMIM:192500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym Goldblatt syndrome Goldblatt syndrome goldblatt syndrome OMIM:184260 odontochondrodysplasia 1 Goldblatt syndrome OMIM:184260 MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym ODCD ODCD odcd OMIM:184260 odontochondrodysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ODCD OMIM:184260 -MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Glanzmann thrombasthenia OMIM:273800 MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Glanzmann thrombasthenia OMIMPS:273800 MONDO:0100327 hypercholanemia, familial oio:hasExactSynonym hypercholanemia, familial hypercholanemia, familial Hypercholanemia, familial OMIMPS:607748 Hypercholanemia, familial hypercholanemia, familial OMIMPS:607748 MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym Friedreich ataxia 1 Friedreich ataxia 1 friedreich ataxia 1 OMIM:229300 friedreich ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Friedreich ataxia 1 OMIM:229300 @@ -11138,7 +10798,6 @@ MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym Carey-Fineman- MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with moebius sequence and robin sequence OMIM:254940 carey-fineman-ziter syndrome 1 myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence OMIM:254940 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym CFZS1 OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CFZS1 OMIM:254940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEDSSH1 OMIM:616901 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800444 Birt-Hogg-Dube syndrome oio:hasExactSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION BHD OMIM:135150 MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym Hornstein-Knickenberg syndrome Hornstein-Knickenberg syndrome hornstein-knickenberg syndrome OMIM:135150 birt-hogg-dube syndrome 1 Hornstein-Knickenberg syndrome OMIM:135150 MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 birt-hogg-dube syndrome 1 fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to oio:hasExactSynonym bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 @@ -11155,7 +10814,6 @@ MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 oio:has MONDO:0957820 congenital disorder of glycosylation, type IIbb oio:hasExactSynonym CDG IIbb CDG IIbb cdg iibb OMIM:620546 congenital disorder of glycosylation, type iibb CDG IIbb OMIM:620546 MONDO:0958237 isolated hyperferritinemia oio:hasExactSynonym hyperferritinemia OMIM:620729 hyperferritinemia hyperferritinemia OMIM:620729 MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIMS WHIMS whims OMIM:193670 whim syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION WHIMS OMIM:193670 -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIM Syndrome WHIM Syndrome WHIM syndrome OMIMPS:193670 WHIM syndrome WHIM Syndrome OMIMPS:193670 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym cataract-mental retardation-hypogonadism OMIM:212720 martsolf syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED cataract-mental retardation-hypogonadism OMIM:212720 MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym IMNEPD IMNEPD imnepd OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMNEPD OMIM:616263 MONDO:8000014 familial antiphospholipid syndrome oio:hasExactSynonym antiphospholipid syndrome, familial OMIM:107320 antiphospholipid syndrome, familial antiphospholipid syndrome, familial OMIM:107320 diff --git a/src/ontology/reports/sync-synonym/omim.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/omim.synonyms.updated.robot.tsv index c5c4584b..4f80d733 100644 --- a/src/ontology/reports/sync-synonym/omim.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/omim.synonyms.updated.robot.tsv @@ -1,13 +1,6 @@ mondo_id mondo_label synonym_scope_source synonym_scope_mondo synonym synonym_case_diff_mondo synonym_case_diff_source source_id source_label synonym_type synonym_type_mondo mondo_evidence case exact_synonym exact_source_id exact_synonym_type broad_synonym broad_source_id broad_synonym_type narrow_synonym narrow_source_id narrow_synonym_type related_synonym related_source_id related_synonym_type ID A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >AI oboInOwl:hasSynonymType SPLIT=| A oboInOwl:hasBroadSynonym >A oboInOwl:hasDbXref >AI oboInOwl:hasSynonymType SPLIT=| A oboInOwl:hasNarrowSynonym >A oboInOwl:hasDbXref >AI oboInOwl:hasSynonymType SPLIT=| A oboInOwl:hasRelatedSynonym >A oboInOwl:hasDbXref >AI oboInOwl:hasSynonymType SPLIT=| -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB1 OMIM:300345 microphthalmia/coloboma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300345 MCOPCB1 OMIM:300345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome 1 zimmermann-laband syndrome 1 OMIM:135500 zimmermann-laband syndrome 1 MONDO:Lexical, OMIM:135500 Zimmermann-Laband syndrome 1 OMIM:135500 -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym ZLS1 OMIM:135500 zimmermann-laband syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135500 ZLS1 OMIM:135500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym MSSGM MSSGM mssgm OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616033, MONDO:Lexical MSSGM OMIM:616033 -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, short stature, and impaired glucose metabolism microcephaly, short stature, and impaired glucose metabolism Microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism OMIM:616033, MONDO:Lexical microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ Ullrich disease OMIM:254090 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym oio:hasRelatedSynonym Jarcho-Levin syndrome Jarcho-Levin syndrome jarcho-levin syndrome OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, DOID:0050568 Jarcho-Levin syndrome OMIM:277300 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym oio:hasRelatedSynonym inverted smile and occult neuropathic bladder OMIM:236730 urofacial syndrome 1 GARD:0000104 inverted smile and occult neuropathic bladder OMIM:236730 MONDO:0000723 stutter disorder oio:hasExactSynonym oio:hasNarrowSynonym stuttering, familial persistent stuttering, familial persistent Stuttering, familial persistent OMIMPS:184450 Stuttering, familial persistent OMIMPS:184450 stuttering, familial persistent OMIMPS:184450 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with neuronopathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 corpus callosum, agenesis of, with neuronopathy OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 @@ -18,48 +11,29 @@ MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynony MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym neurosensory nonsyndromic recessive deafness 5 OMIM:600792 deafness, autosomal recessive 5 OMIM:600792 neurosensory nonsyndromic recessive deafness 5 OMIM:600792 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 OMIM:600792 deafness, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 DFNB5 OMIM:600792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym spherocytosis, hereditary, 2 OMIM:616649 spherocytosis, type 2 OMIM:616649 spherocytosis, hereditary, 2 OMIM:616649 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy GARD:0001049 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 1 OMIM:608520 major depressive disorder 1 OMIM:608516, OMIM:genemap2 major depressive disorder 1 OMIM:608520 -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 2 OMIM:608691 major depressive disorder 2 OMIM:608516, OMIM:genemap2 major depressive disorder 2 OMIM:608691 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome OMIM:305450 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0002317 mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym oio:hasBroadSynonym hyperbilirubinemia hyperbilirubinemia Hyperbilirubinemia OMIMPS:237450 Hyperbilirubinemia DOID:2741 hyperbilirubinemia OMIMPS:237450 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome 1 jervell and lange-nielsen syndrome 1 OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400, MONDO:Lexical Jervell and Lange-Nielsen syndrome 1 OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Surdo-cardiac syndrome Surdo-cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 Surdo-cardiac syndrome OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 deafness, congenital, and functional heart disease OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma OMIM:424500 gonadoblastoma OMIM:424500 gonadoblastoma OMIM:424500 MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym GBY OMIM:424500 gonadoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:424500 GBY OMIM:424500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym tremor, hereditary essential tremor, hereditary essential Tremor, hereditary essential OMIMPS:190300 Tremor, hereditary essential OMIMPS:190300 tremor, hereditary essential OMIMPS:190300 -MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 OMIM:194070 wilms tumor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 WT1 OMIM:194070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic LYMPHOCYTIC leukemia, chronic LYMPHOCYTIC leukemia, chronic lymphocytic OMIM:151400 leukemia, chronic lymphocytic MONDO:Lexical, OMIM:151400 leukemia, chronic LYMPHOCYTIC OMIM:151400 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic lymphatic OMIM:151400 leukemia, chronic lymphocytic OMIM:151400 leukemia, chronic lymphatic OMIM:151400 MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym HIV-1, susceptibility to HIV-1, susceptibility to hiv-1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 HIV-1, susceptibility to OMIM:609423 MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus type 1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy OMIM:189800 preeclampsia/eclampsia 1 DOID:10591 toxemia of pregnancy OMIM:189800 MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia with or without an affective disorder OMIM:181500 schizophrenia OMIM:181500 schizophrenia with or without an affective disorder OMIM:181500 MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym SCZD OMIM:181500 schizophrenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181500, MONDO:Lexical SCZD OMIM:181500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 OMIM:608543 schizophrenia 12 OMIM:genemap2, OMIM:181500 schizophrenia 12 OMIM:608543 MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes OMIM:125853 type 2 diabetes mellitus OMIM:125853 maturity-onset diabetes OMIM:125853 -MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasNarrowSynonym diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 type 2 diabetes mellitus 2 OMIM:genemap2, OMIM:125853 diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder OMIM:209850 autism OMIM:209850 autistic disorder OMIM:209850 MONDO:0005298 osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, involutional OMIM:166710 osteoporosis OMIM:166710 osteoporosis, involutional OMIM:166710 MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary biliary cirrhosis, primary Biliary cirrhosis, primary OMIMPS:109720 Biliary cirrhosis, primary OMIMPS:109720 biliary cirrhosis, primary OMIMPS:109720 MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym kala-azar, susceptibility to kala-azar, susceptibility to Kala-azar, susceptibility to OMIMPS:608207 Kala-azar, susceptibility to OMIMPS:608207 kala-azar, susceptibility to OMIMPS:608207 MONDO:0005486 tooth agenesis oio:hasExactSynonym oio:hasRelatedSynonym tooth agenesis, selective tooth agenesis, selective Tooth agenesis, selective OMIMPS:106600 Tooth agenesis, selective OMIMPS:106600 tooth agenesis, selective OMIMPS:106600 -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EXT OMIM:133700 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer OMIM:114500 colorectal cancer OMIM:114500 colon cancer OMIM:114500 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC OMIM:114500 colorectal cancer http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical CRC OMIM:114500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005711 congenital diaphragmatic hernia oio:hasExactSynonym oio:hasBroadSynonym diaphragmatic hernia diaphragmatic hernia Diaphragmatic hernia OMIMPS:142340 Diaphragmatic hernia DOID:3827, NCIT:C34687 diaphragmatic hernia OMIMPS:142340 -MONDO:0005803 hyperinsulinemic hypoglycemia oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 DOID:13317 nesidioblastosis OMIM:601820 MONDO:0006248 hydatidiform mole oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole, recurrent hydatidiform mole, recurrent Hydatidiform mole, recurrent OMIMPS:231090 Hydatidiform mole, recurrent OMIMPS:231090 hydatidiform mole, recurrent OMIMPS:231090 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym MESOM OMIM:156240 mesothelioma, malignant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:156240 MESOM OMIM:156240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 DOID:2352 hemochromatosis OMIM:235200 MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis DOID:2352 hemochromatosis OMIMPS:235200 MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome, autosomal dominant Aarskog syndrome, autosomal dominant aarskog syndrome, autosomal dominant OMIM:100050 aarskog syndrome, autosomal dominant OMIM:100050 Aarskog syndrome, autosomal dominant OMIM:100050 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome DOID:6683 Aarskog-Scott syndrome OMIM:305400 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome DOID:6683 faciogenital dysplasia OMIM:305400 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism OMIM:100100 prune belly syndrome OMIM:100100 abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism OMIM:100100 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome eagle-barrett syndrome OMIM:100100 prune belly syndrome OMIM:100100 eagle-Barrett syndrome OMIM:100100 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym PBS OMIM:100100 prune belly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100100, MONDO:Lexical PBS OMIM:100100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -159,7 +133,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebra MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis 8 OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis 8 OMIM:105200 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial visceral OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis, familial visceral OMIM:105200 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, systemic Nonneuropathic amyloidosis, systemic Nonneuropathic amyloidosis, systemic nonneuropathic OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis, systemic Nonneuropathic OMIM:105200 -MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym oio:hasRelatedSynonym hereditary amyloidosis, transthyretin-related OMIM:105210 amyloidosis, hereditary systemic 1 OMIM:105210 hereditary amyloidosis, transthyretin-related OMIM:105210 MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400 amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, familial OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400, MESH:C531617 amyotrophic lateral sclerosis 1, familial OMIM:105400 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-pDC ALS-pDC als-pdc OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 ALS-pDC OMIM:105500 @@ -167,7 +140,6 @@ MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:ha MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam OMIM:105500 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 OMIM:105550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 MONDO:0007106 anal sphincter dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ASDP OMIM:105563 anal sphincter dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:105563 ASDP OMIM:105563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007107 anal sphincter myopathy, internal oio:hasExactSynonym oio:hasRelatedSynonym proctalgia fugax due to anal sphincter myopathy OMIM:105565 anal sphincter myopathy, internal OMIM:105565 proctalgia fugax due to anal sphincter myopathy OMIM:105565 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym Erythroreticulosis, hereditary benign Erythroreticulosis, hereditary benign erythroreticulosis, hereditary benign OMIM:105600 anemia, congenital dyserythropoietic, type iiia OMIM:105600 Erythroreticulosis, hereditary benign OMIM:105600 @@ -182,7 +154,6 @@ MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 OMIM:105650 erythrogenesis imperfecta OMIM:105650 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasBroadSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650 DBA OMIM:105650 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 OMIM:105650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:105650 Aase-Smith syndrome 2 OMIM:612561 MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysm, intracranial berry, 1 OMIM:105800 aneurysm, intracranial berry, 1 MONDO:Lexical, OMIM:105800 aneurysm, intracranial berry, 1 OMIM:105800 MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysmal subarachnoid hemorrhage, familial OMIM:105800 aneurysm, intracranial berry, 1 OMIM:105800 aneurysmal subarachnoid hemorrhage, familial OMIM:105800 MONDO:0007112 interventricular septum aneurysm oio:hasExactSynonym oio:hasRelatedSynonym aneurysm of interventricular septum OMIM:105805 aneurysm of interventricular septum OMIM:105805 aneurysm of interventricular septum OMIM:105805 @@ -222,17 +193,11 @@ MONDO:0007137 isolated congenital anosmia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 MONDO:Lexical, OMIM:107250 anterior segment mesenchymal dysgenesis OMIM:107250 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 OMIM:107250 anterior segment ocular dysgenesis OMIM:107250 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym ASGD1 OMIM:107250 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107250 ASGD1 OMIM:107250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym Townes-Brocks syndrome 1 Townes-Brocks syndrome 1 townes-brocks syndrome 1 OMIM:107480 townes-brocks syndrome 1 OMIM:107480 Townes-Brocks syndrome 1 OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and ear anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 anus, imperforate, with hand, foot, and Ear anomalies OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 OMIM:107480 renal-Ear-anal-radial syndrome OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym TBS1 OMIM:107480 townes-brocks syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107480 TBS1 OMIM:107480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym aplasia cutis congenita, nonsyndromic OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600, MONDO:Lexical aplasia cutis congenita, nonsyndromic OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital defect of skull and scalp OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 congenital defect of skull and scalp OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym scalp defect, congenital OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 scalp defect, congenital OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC OMIM:217990 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Osa Osa osa OMIM:107650 apnea, obstructive sleep OMIM:107650 Osa OMIM:107650 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym apnea, obstructive sleep OMIM:107650 apnea, obstructive sleep MESH:D020181, OMIM:107650 apnea, obstructive sleep OMIM:107650 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym sleep apnea/hypopnea syndrome OMIM:107650 apnea, obstructive sleep OMIM:107650 sleep apnea/hypopnea syndrome OMIM:107650 @@ -242,7 +207,6 @@ MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:h MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriovenous malformations OMIM:108010 arteriovenous malformations of the brain OMIM:108010 cerebral arteriovenous malformations OMIM:108010 MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 arthrogryposis, distal, type 1 OMIM:108120 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita OMIM:108120 arthrogryposis multiplex congenita OMIMPS:617468 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, GARD:0004047 arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 2B arthrogryposis, distal, type 2B arthrogryposis, distal, type 2b OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145 arthrogryposis, distal, type 2B OMIM:108145 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 5 OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, MONDO:Lexical arthrogryposis, distal, type 5 OMIM:108145 @@ -289,7 +253,6 @@ MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym S MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 3 OMIM:109150 machado-joseph disease OMIM:109150 spinocerebellar atrophy 3 OMIM:109150 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym gastroesophageal reflux, pediatric OMIM:109350 gastroesophageal reflux OMIM:109350 gastroesophageal reflux, pediatric OMIM:109350 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym GER ger GER OMIM:109350 gastroesophageal reflux http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109350, MONDO:Lexical GER OMIM:109350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 basal cell nevus syndrome 1 OMIM:109400 multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 MONDO:0007188 primary basilar invagination oio:hasExactSynonym oio:hasRelatedSynonym basilar impression, primary OMIM:109500 basilar impression, primary OMIM:109500 basilar impression, primary OMIM:109500 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym B-cell malignancy, low-grade B-cell malignancy, low-grade b-cell malignancy, low-grade OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 B-cell malignancy, low-grade OMIM:109543 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym Clls2 Clls2 clls2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 Clls2 OMIM:109543 @@ -299,8 +262,6 @@ MONDO:0007192 beta-amino acids, renal transport of oio:hasExactSynonym oio:hasRe MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pbc Pbc pbc OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720 Pbc OMIM:109720 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720, MONDO:Lexical biliary cirrhosis, primary, 1 OMIM:109720 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical PBC1 OMIM:109720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 OMIM:109730 aortic valve disease 1 OMIM:109730, MONDO:Lexical aortic valve disease 1 OMIM:109730 -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym AOVD1 OMIM:109730 aortic valve disease 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:109730 AOVD1 OMIM:109730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis, myopia, and ectopia lentis OMIM:110150 blepharoptosis, myopia, and ectopia lentis OMIM:110150 blepharoptosis, myopia, and ectopia lentis OMIM:110150 MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COLE-CARPENTER syndrome 1 COLE-CARPENTER syndrome 1 cole-carpenter syndrome 1 OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 COLE-CARPENTER syndrome 1 OMIM:112240 MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features OMIM:112240 @@ -355,8 +316,6 @@ MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym gigantomastia, juvenile OMIM:113670 hypertrophy of the breast, juvenile OMIM:113670 gigantomastia, juvenile OMIM:113670 MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym hypertrophy of the breast, juvenile OMIM:113670 hypertrophy of the breast, juvenile MONDO:Lexical, OMIM:113670 hypertrophy of the breast, juvenile OMIM:113670 MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym JHB OMIM:113670 hypertrophy of the breast, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113670 JHB OMIM:113670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma ichthyosiformis congenita of brocq OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 bullous erythroderma Ichthyosiformis congenita of Brocq OMIM:113800 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 bullous ichthyosiform erythroderma OMIM:113800 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Cardiac conduction defect, progressive Cardiac conduction defect, progressive cardiac conduction defect, progressive OMIM:113900 progressive familial heart block, type 1a OMIM:113900 Cardiac conduction defect, progressive OMIM:113900 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease lenegre-lev disease OMIM:113900 progressive familial heart block, type 1a OMIM:113900 Lenegre-Lev disease OMIM:113900 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym heart block, progressive familial, type 1 OMIM:113900 progressive familial heart block, type 1a OMIM:113900 heart block, progressive familial, type 1 OMIM:113900 @@ -383,7 +342,6 @@ MONDO:0007257 candidiasis, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 CFC syndrome OMIM:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cfcs Cfcs cfcs OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 Cfcs OMIM:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 OMIM:115150 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 CFC1 OMIM:115150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 cardiofaciocutaneous syndrome OMIMPS:115150 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 2 OMIM:115195 cardiomyopathy, familial hypertrophic, 2 OMIM:115195, MONDO:Lexical cardiomyopathy, familial hypertrophic, 2 OMIM:115195 MONDO:0007267 hypertrophic cardiomyopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 3 OMIM:115196 cardiomyopathy, familial hypertrophic, 3 OMIM:115196, MONDO:Lexical cardiomyopathy, familial hypertrophic, 3 OMIM:115196 MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, congestive OMIM:115200 cardiomyopathy, dilated, 1a OMIM:115200 cardiomyopathy, congestive OMIM:115200 @@ -457,7 +415,6 @@ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oi MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Klippel-FEIL syndrome 1, autosomal dominant Klippel-FEIL syndrome 1, autosomal dominant klippel-feil syndrome 1, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 Klippel-FEIL syndrome 1, autosomal dominant OMIM:118100 MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 cervical vertebral fusion, autosomal dominant OMIM:118100 MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym KFS1 OMIM:118100 klippel-feil syndrome 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118100 KFS1 OMIM:118100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome OMIMPS:118100 Klippel-Feil syndrome NORD:1336 Klippel-Feil Syndrome OMIMPS:118100 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B OMIM:118200 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, demyelinating, type 1B Charcot-Marie-Tooth disease, demyelinating, type 1B charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200, MONDO:Lexical Charcot-Marie-Tooth disease, demyelinating, type 1B OMIM:118200 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy charcot-marie-tooth disease, slow nerve conduction type, linked to duffy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy OMIM:118200 @@ -488,7 +445,6 @@ MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSyno MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym oio:hasRelatedSynonym infantile choreoathetosis of Fisher infantile choreoathetosis of Fisher infantile choreoathetosis of fisher OMIM:118750 choreoathetosis, familial inverted OMIM:118750 infantile choreoathetosis of Fisher OMIM:118750 MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1c OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 hyperlipoproteinemia, type 1C OMIM:118830 -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym oio:hasRelatedSynonym Sen syndrome Sen syndrome sen syndrome OMIM:181270 scalp-ear-nipple syndrome OMIM:215600 Sen syndrome OMIM:181270 MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym clavicle, pseudarthrosis of, congenital OMIM:118980 clavicle, pseudarthrosis of, congenital OMIM:118980 clavicle, pseudarthrosis of, congenital OMIM:118980 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym aplasia of tibia with ectrodactyly OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 aplasia of tibia with ectrodactyly OMIM:119100 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym cleft hand and absent tibia OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 cleft hand and absent tibia OMIM:119100 @@ -510,10 +466,6 @@ MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cl MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym CPI OMIM:119540 cleft palate, isolated http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:119540 CPI OMIM:119540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome cpls syndrome OMIM:119550 syngnathia OMIM:119550 Cpls syndrome OMIM:119550 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia OMIM:119550 syngnathia OMIM:119550 syngnathia OMIM:119550 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Elschnig syndrome elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 Elschnig syndrome OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym clefting, ectropion, and conical teeth OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 clefting, ectropion, and conical teeth OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym CLCD CLCD clcd OMIM:119600 cleidocranial dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006118 CLCD OMIM:119600 MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800, MONDO:Lexical clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly OMIM:119800 MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym CCF OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119800, MONDO:Lexical CCF OMIM:119800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -543,7 +495,6 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colon cancer, familial nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 colon cancer, familial nonpolyposis, type 1 OMIM:120435 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 COCA1 coca1 OMIM:120435 lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 COCA1 OMIM:120435 -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 lynch syndrome 2 OMIM:609310 lynch syndrome 2 OMIM:120435 Lynch syndrome 2 OMIM:609310 MONDO:0007360 branchiootic syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym bo syndrome 2 OMIM:120502 branchiootic syndrome 2 OMIM:120502 bo syndrome 2 OMIM:120502 MONDO:0007361 C1 inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement component 4, partial deficiency OF complement component 4, partial deficiency OF complement component 4, partial deficiency of OMIM:120790 complement component 4, partial deficiency of OMIM:120790 complement component 4, partial deficiency OF OMIM:120790 MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:120970 cone-rod dystrophy OMIM:120970 @@ -562,7 +513,6 @@ MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Cpx deficiency Cpx deficiency cpx deficiency OMIM:121300 coproporphyria, hereditary OMIM:121300 Cpx deficiency OMIM:121300 MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym coproporphyria, hereditary OMIM:121300 coproporphyria, hereditary OMIM:121300, MONDO:Lexical coproporphyria, hereditary OMIM:121300 MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym HCP OMIM:121300 coproporphyria, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121300 HCP OMIM:121300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Harderoporphyria harderoporphyria OMIM:618892 harderoporphyria OMIM:121300 Harderoporphyria OMIM:618892 MONDO:0007372 cornea plana 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym CNA1 OMIM:121400 cornea plana 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121400 CNA1 OMIM:121400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007373 corneal degeneration, ribbonlike, with deafness oio:hasExactSynonym oio:hasRelatedSynonym band keratopathy with deafness OMIM:121450 corneal degeneration, ribbonlike, with deafness OMIM:121450 band keratopathy with deafness OMIM:121450 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Schnyder corneal dystrophy, Schnyder corneal dystrophy, schnyder OMIM:121800 schnyder corneal dystrophy OMIM:121800 corneal dystrophy, Schnyder OMIM:121800 @@ -583,8 +533,6 @@ MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 posterior polymorphous corneal dystrophy OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann epithelial corneal dystrophy, Meesmann epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, Meesmann epithelial OMIM:122100 -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, juvenile epithelial, of Meesmann OMIM:122100 MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann corneal dystrophy, Meesmann Corneal dystrophy, Meesmann OMIMPS:122100 Corneal dystrophy, Meesmann OMIM:122100, MONDO:Lexical corneal dystrophy, Meesmann OMIMPS:122100 MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, lattice type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200, GARD:0009678 corneal dystrophy, lattice type 1 OMIM:122200 MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym lattice corneal dystrophy, type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200 lattice corneal dystrophy, type 1 OMIM:122200 @@ -602,10 +550,8 @@ MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cdl Cdl cdl OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 Cdl OMIM:122470 MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym typus Degenerativus Amstelodamensis typus Degenerativus Amstelodamensis typus degenerativus amstelodamensis OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 typus Degenerativus Amstelodamensis OMIM:122470 MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDLS1 OMIM:122470 cornelia lange lange syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470, MONDO:Lexical CDLS1 OMIM:122470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDL Cdl CDL OMIM:126550 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470 CDL OMIM:126550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007388 congenitally short costocoracoid ligament oio:hasExactSynonym oio:hasRelatedSynonym costocoracoid ligament, congenitally short OMIM:122580 costocoracoid ligament, congenitally short OMIM:122580 costocoracoid ligament, congenitally short OMIM:122580 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 OMIM:122600 spondylocostal dysplasia OMIM:122600 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive NORD:1915 Spondylothoracic Dysplasia OMIM:277300 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym coumarin, poor metabolism of OMIM:122700 coumarin resistance OMIM:122700 coumarin, poor metabolism of OMIM:122700 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance OMIM:122700 coumarin resistance OMIM:122700 warfarin resistance OMIM:122700 MONDO:0007396 dysostosis, Stanescu type oio:hasExactSynonym oio:hasRelatedSynonym craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 @@ -656,7 +602,6 @@ MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelat MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:genemap2, OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNA1 OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110541, OMIM:124900, MONDO:Lexical DFNA1 OMIM:124900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym oio:hasRelatedSynonym dominant optic atrophy plus syndrome OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 dominant optic atrophy plus syndrome OMIM:125250 -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym oio:hasRelatedSynonym Casil Casil casil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 OMIM:125310 Casil OMIM:125310 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption OMIM:125350 failure of tooth eruption, primary OMIM:125350 dental noneruption OMIM:125350 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym failure of tooth eruption, primary OMIM:125350 failure of tooth eruption, primary OMIM:125350, MONDO:Lexical failure of tooth eruption, primary OMIM:125350 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym posterior Openbite malocclusion, familial posterior Openbite malocclusion, familial posterior openbite malocclusion, familial OMIM:125350 failure of tooth eruption, primary OMIM:125350 posterior Openbite malocclusion, familial OMIM:125350 @@ -678,13 +623,6 @@ MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:125480 bipolar affective disorder OMIM:125480 MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis OMIM:125480 major affective disorder 1 OMIM:125480 manic-depressive psychosis OMIM:125480 MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, autosomal OMIM:125480 major affective disorder 1 OMIM:125480 manic-depressive psychosis, autosomal OMIM:125480 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:125480 bipolar affective disorder OMIM:309200 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:125480 bipolar affective disorder OMIM:611247 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:125480 bipolar affective disorder OMIM:611535 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:125480 bipolar affective disorder OMIM:611536 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:125480 bipolar affective disorder OMIM:612357 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:125480 bipolar affective disorder OMIM:612371 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:125480 bipolar affective disorder OMIM:612372 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym DGI-II DGI-II dgi-ii OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 DGI-II OMIM:125490 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta 1 OMIM:125490 dentinogenesis imperfecta 1 MONDO:Lexical, OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 @@ -697,10 +635,6 @@ MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasE MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, partial, unilateral OMIM:125520 cayler cardiofacial syndrome OMIM:125520 facial paresis, partial, unilateral OMIM:125520 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR OMIM:125595 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 DPR OMIM:125595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007447 autosomal dominant vibratory urticaria oio:hasExactSynonym oio:hasBroadSynonym vibratory angioedema OMIM:125630 vibratory urticaria OMIM:193050, MONDO:0024254, MONDO:0008657 vibratory angioedema OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermodistortive urticaria Dermodistortive urticaria dermodistortive urticaria OMIM:125630 vibratory urticaria MESH:C536612 Dermodistortive urticaria OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory angioedema OMIM:125630 vibratory urticaria MESH:C536612 vibratory angioedema OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria OMIM:125630 vibratory urticaria MESH:C536612 vibratory urticaria OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym VBU OMIM:125630 vibratory urticaria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536612 VBU OMIM:125630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermatographism, familial Dermatographism, familial dermatographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 Dermatographism, familial OMIM:125635 MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 dermographism, familial OMIM:125635 MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-tooth type OMIM:125640 dermoodontodysplasia OMIM:125640 ectodermal dysplasia, hair-nail-Tooth type OMIM:125640 @@ -722,8 +656,6 @@ MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym alb MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym hypopigmentation OMIM:126070 dilution, pigmentary OMIM:126070 hypopigmentation OMIM:126070 MONDO:0007460 discrimination, Two-point, reduction 1N oio:hasExactSynonym oio:hasRelatedSynonym sensory discrimination OMIM:126180 discrimination, two-point, reduction 1n OMIM:126180 sensory discrimination OMIM:126180 MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome oio:hasExactSynonym oio:hasRelatedSynonym disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 disseminated sclerosis OMIM:126200 -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200 MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007463 distal osteosclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis, distal OMIM:126250 distal osteosclerosis OMIM:126250 osteosclerosis, distal OMIM:126250 MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym D1Z1 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 D1Z1 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -732,13 +664,7 @@ MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSyn MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym drusen, radial, autosomal dominant OMIM:126600 doyne honeycomb retinal dystrophy OMIM:126600 drusen, radial, autosomal dominant OMIM:126600 MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, cuticular OMIM:126700 basal laminar drusen OMIM:126700 drusen, cuticular OMIM:126700 MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, early adult-onset, grouped OMIM:126700 basal laminar drusen OMIM:126700 drusen, early adult-onset, grouped OMIM:126700 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 GARD:0006288, OMIM:126800 Duane anomaly OMIM:126800 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym retraction syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 retraction syndrome OMIM:126800 MONDO:0007476 familial Dupuytren contracture oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren contracture Dupuytren contracture dupuytren contracture OMIM:126900 dupuytren contracture OMIM:126900 Dupuytren contracture OMIM:126900 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism with tall vertebrae OMIM:126950 dwarfism with tall vertebrae OMIM:126950 dwarfism with tall vertebrae OMIM:126950 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 MESH:C535314 3M syndrome OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym three M syndrome 1 three M syndrome 1 three m syndrome 1 OMIM:273750 three m syndrome 1 MESH:C535314 three M syndrome 1 OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym 3M1 OMIM:273750 three m syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535314 3M1 OMIM:273750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 Kenny syndrome OMIM:127000 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kenny-Caffey syndrome, type 2 Kenny-Caffey syndrome, type 2 kenny-caffey syndrome, type 2 OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000, MONDO:Lexical Kenny-Caffey syndrome, type 2 OMIM:127000 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 @@ -782,10 +708,8 @@ MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSyno MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 basan syndrome OMIM:129200, GARD:0002336 adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM:129400 rapp-hodgkin syndrome OMIM:129400 ectodermal dysplasia, anhidrotic, with cleft Lip/palate OMIM:129400 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 OMIM:618149 orofacial cleft 8 OMIM:129400 orofacial cleft 8 OMIM:618149 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:129490 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 ECTD10A OMIM:129490 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:129490 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clouston hidrotic ectodermal dysplasia Clouston hidrotic ectodermal dysplasia clouston hidrotic ectodermal dysplasia OMIM:129500 clouston syndrome OMIM:129500 Clouston hidrotic ectodermal dysplasia OMIM:129500 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, clouston type OMIM:129500 clouston syndrome OMIM:129500 ectodermal dysplasia 2, Clouston type OMIM:129500 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 clouston syndrome OMIM:129500 ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 @@ -808,7 +732,6 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VIIA, autosomal dominant Ehlers-Danlos syndrome, type VIIA, autosomal dominant ehlers-danlos syndrome, type viia, autosomal dominant OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 OMIM:130060 Ehlers-Danlos syndrome, type VIIA, autosomal dominant OMIM:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 GARD:0002084, MESH:C562625, OMIM:130060 arthrochalasis multiplex congenita OMIM:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym EDSARTH1 OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130060 EDSARTH1 OMIM:130060 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasNarrowSynonym EDS 7B EDS 7B eds 7b OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 OMIM:130060 EDS 7B OMIM:617821 MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym EDS, unspecified type EDS, unspecified type eds, unspecified type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 EDS, unspecified type OMIM:130090 MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, Friedman-Harrod type Ehlers-Danlos syndrome, Friedman-Harrod type ehlers-danlos syndrome, friedman-harrod type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 Ehlers-Danlos syndrome, Friedman-Harrod type OMIM:130090 MONDO:0007529 elastosis perforans serpiginosa oio:hasExactSynonym oio:hasRelatedSynonym Miescher elastoma Miescher elastoma miescher elastoma OMIM:130100 elastosis perforans serpiginosa OMIM:130100 Miescher elastoma OMIM:130100 @@ -819,7 +742,6 @@ MONDO:0007533 elliptocytosis 2 oio:hasExactSynonym oio:hasRelatedSynonym EL2 O MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym oio:hasRelatedSynonym EMG syndrome EMG syndrome emg syndrome OMIM:130650 beckwith-wiedemann syndrome OMIM:130650 EMG syndrome OMIM:130650 MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lms Lms lms OMIM:130720 lateral meningocele syndrome OMIM:130720 Lms OMIM:130720 MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMNS OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720, MONDO:Lexical LMNS OMIM:130720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomineralization type OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, hypomineralization type OMIM:130900 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, type 3 OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, type 3 OMIM:130900 @@ -892,7 +814,6 @@ MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple osteochondromas OMIM:133700 exostoses, multiple, type 1 OMIM:133700 multiple osteochondromas OMIM:133700 MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 OMIM:133700 osteochondromatosis OMIM:133700 MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133700 EXT OMIM:133700 -MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type OMIM:133700 osteochondromatosis OMIM:166000 MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 OMIM:133701 exostoses, multiple, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 EXT2 OMIM:133701 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Rasmussen syndrome rasmussen syndrome OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 Rasmussen syndrome OMIM:133705 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 @@ -933,12 +854,6 @@ MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym HTC3 OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:135400, MONDO:Lexical HTC3 OMIM:135400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with progressive deafness OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym gingival fibromatosis with sensorineural hearing loss OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 gingival fibromatosis with sensorineural hearing loss OMIM:135550 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym Feom1 locus Feom1 locus feom1 locus OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 Feom1 locus OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis with absent eye movements OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 blepharoptosis with absent eye movements OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym fibrosis of extraocular muscles, congenital, 1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 MONDO:Lexical, OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia, congenital OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 ophthalmoplegia, congenital OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym CFEOM1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135700 CFEOM1 OMIM:135700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome Tukel syndrome tukel syndrome OMIM:609428 tukel syndrome DOID:0080143 Tukel syndrome OMIM:609428 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, duplication of, with absence of tibia and radius OMIM:135750 laurin-sandrow syndrome OMIM:135750 fibula and ulna, Duplication of, with absence of tibia and radius OMIM:135750 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror hands and feet with nasal defects OMIM:135750 laurin-sandrow syndrome OMIM:135750 mirror hands and feet with nasal defects OMIM:135750 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly OMIM:135750 laurin-sandrow syndrome OMIM:135750 mirror-Image polydactyly OMIM:135750 @@ -947,7 +862,6 @@ MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome OMIM:135900 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 OMIM:135900, DOID:0070042 fifth digit syndrome OMIM:135900 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 12 OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614562 mental retardation, autosomal dominant 12 OMIM:135900 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome OMIMPS:135900 MONDO:0007618 Eng-Strom syndrome oio:hasExactSynonym oio:hasRelatedSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia OMIM:136000 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 adermatoglyphia OMIM:136000 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym fingerprints, absence of OMIM:136000 adermatoglyphia OMIM:136000 fingerprints, absence of OMIM:136000 @@ -974,7 +888,6 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal malformation OMIM:136760 frontonasal dysplasia 1 OMIM:136760 frontonasal malformation OMIM:136760 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym median Facial cleft syndrome median Facial cleft syndrome median facial cleft syndrome OMIM:136760 frontonasal dysplasia 1 OMIM:136760 median Facial cleft syndrome OMIM:136760 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia OMIMPS:136760 Frontonasal dysplasia OMIM:136760 frontonasal dysplasia OMIMPS:136760 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, fuchs endothelial, early-onset OMIM:136800 corneal dystrophy, fuchs endothelial, 1 OMIM:136800 corneal dystrophy, Fuchs endothelial, early-onset OMIM:136800 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym FECD1 OMIM:136800 corneal dystrophy, fuchs endothelial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136800 FECD1 OMIM:136800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007638 fucosidase regulator oio:hasExactSynonym oio:hasRelatedSynonym Alpha-L-fucosidase regulator Alpha-L-fucosidase regulator alpha-l-fucosidase regulator OMIM:136830 fucosidase regulator OMIM:136830 Alpha-L-fucosidase regulator OMIM:136830 @@ -1014,13 +927,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelat MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulocystic kidney, familial hypoplastic OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 glomerulocystic kidney, familial hypoplastic OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the young, type 5 OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 maturity-onset diabetes of the Young, type 5 OMIM:137920 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 1 OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950, MESH:C536826, MONDO:Lexical glomerulopathy with fibronectin deposits 1 OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826, GARD:0009268 glomerulopathy with giant fibrillar deposits OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym lobular glomerulopathy, familial OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826 lobular glomerulopathy, familial OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND1 OMIM:137950 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137950, MESH:C536826, MONDO:Lexical, GARD:0009268 GFND1 OMIM:137950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerular nephritis, familial, with fibronectin deposits OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 glomerular nephritis, familial, with fibronectin deposits OMIM:601894 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 2 OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 glomerulopathy with fibronectin deposits 2 OMIM:601894 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND2 OMIM:601894 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536826 GFND2 OMIM:601894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym GLOMUVENOUS malformations GLOMUVENOUS malformations glomuvenous malformations OMIM:138000 glomuvenous malformations MONDO:Lexical, OMIM:138000 GLOMUVENOUS malformations OMIM:138000 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomas, multiple OMIM:138000 glomuvenous malformations OMIM:138000 glomangiomas, multiple OMIM:138000 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, multiple OMIM:138000 glomuvenous malformations OMIM:138000 glomus tumors, multiple OMIM:138000 @@ -1069,10 +975,8 @@ MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrom MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial OMIM:141200 hematuria, benign familial, 1 OMIM:141200, MONDO:Lexical hematuria, benign familial OMIM:141200 MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 thin membrane nephropathy OMIM:141200 MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin-basement-membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 thin-basement-membrane nephropathy OMIM:141200 -MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial hematuria, benign familial Hematuria, benign familial OMIMPS:141200 Hematuria, benign familial OMIM:141200, MONDO:Lexical hematuria, benign familial OMIMPS:141200 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial atrophy, progressive OMIM:141300 hemifacial atrophy, progressive MONDO:Lexical, OMIM:141300 hemifacial atrophy, progressive OMIM:141300 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym HFA OMIM:141300 hemifacial atrophy, progressive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:141300, MONDO:Lexical HFA OMIM:141300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA OMIM:169400 pelger-huet anomaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 PHA OMIM:169400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007711 Bencze syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia with strabismus OMIM:141350 hemifacial hyperplasia with strabismus OMIM:141350 hemifacial hyperplasia with strabismus OMIM:141350 MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Goldenhar syndrome with ipsilateral radial defect Goldenhar syndrome with ipsilateral radial defect goldenhar syndrome with ipsilateral radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 Goldenhar syndrome with ipsilateral radial defect OMIM:141400 MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Oavs with radial defect Oavs with radial defect oavs with radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 Oavs with radial defect OMIM:141400 @@ -1095,10 +999,8 @@ MONDO:0007721 hiatus hernia oio:hasExactSynonym oio:hasRelatedSynonym hernia, hi MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 Hirschsprung disease OMIM:142623 MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 aganglionic megacolon OMIM:142623 MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym megacolon, aganglionic OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 megacolon, aganglionic OMIM:142623 -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease OMIM:142623 Hirschsprung disease OMIMPS:142623 MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 MONDO:0007725 hereditary progressive mucinous histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytosis, progressive mucinous OMIM:142630 histiocytosis, progressive mucinous OMIM:142630 histiocytosis, progressive mucinous OMIM:142630 -MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:142669, MONDO:Lexical BHD OMIM:135150 MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym Beukes hip dysplasia Beukes hip dysplasia beukes hip dysplasia OMIM:142669 beukes hip dysplasia OMIM:142669, MONDO:Lexical Beukes hip dysplasia OMIM:142669 MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym osteoarthropathy, premature degenerative, of hip OMIM:142669 beukes hip dysplasia OMIM:142669 osteoarthropathy, premature degenerative, of hip OMIM:142669 MONDO:0007727 autosomal dominant familial periodic fever oio:hasExactSynonym oio:hasRelatedSynonym periodic FEVER, familial, autosomal dominant periodic FEVER, familial, autosomal dominant periodic fever, familial, autosomal dominant OMIM:142680 periodic fever, familial, autosomal dominant OMIM:142680 periodic FEVER, familial, autosomal dominant OMIM:142680 @@ -1153,9 +1055,6 @@ MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio: MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, Vorner type palmoplantar keratoderma, Vorner type palmoplantar keratoderma, vorner type OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 palmoplantar keratoderma, Vorner type OMIM:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 tylosis OMIM:144200 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:144200 tylosis OMIM:600962 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym keratosis of Greither keratosis of Greither keratosis of greither OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 OMIM:144200 keratosis of Greither OMIM:620411 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, epidermolytic OMIMPS:144200 Palmoplantar keratoderma, epidermolytic MONDO:Lexical, OMIM:144200 palmoplantar keratoderma, epidermolytic OMIMPS:144200 MONDO:0007759 hyperlipidemia, familial combined, LPL related oio:hasExactSynonym oio:hasRelatedSynonym familial combined hyperlipidemia OMIM:144250 hyperlipidemia, familial combined, 3 OMIM:144250 familial combined hyperlipidemia OMIM:144250 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with hyperprebetalipoproteinemia, familial OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 hyperchylomicronemia with Hyperprebetalipoproteinemia, familial OMIM:144650 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 hyperchylomicronemia, late-onset OMIM:144650 @@ -1187,19 +1086,11 @@ MONDO:0007773 hyperproglucagonemia oio:hasExactSynonym oio:hasRelatedSynonym glu MONDO:0007774 hyperreflexia oio:hasExactSynonym oio:hasRelatedSynonym HRX OMIM:145290 hyperreflexia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145290, MONDO:Lexical HRX OMIM:145290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential OMIM:145500 hypertension, essential OMIM:145500 hypertension, essential OMIM:145500 MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym EHT EHT eht OMIM:145500 hypertension, essential http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145500 EHT OMIM:145500 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential, susceptibility to, 1 OMIM:603918 hypertension, essential, susceptibility to, 1 OMIM:145500, OMIM:genemap2 hypertension, essential, susceptibility to, 1 OMIM:603918 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 2 OMIM:604329 hypertension, essential, susceptibility to, 2 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 2 OMIM:604329 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 3 OMIM:607329 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 4 OMIM:608742 hypertension, essential, susceptibility to, 4 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 4 OMIM:608742 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 5 OMIM:610261 hypertension, essential, susceptibility to, 5 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 5 OMIM:610261 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 6 OMIM:610262 hypertension, essential, susceptibility to, 6 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 6 OMIM:610262 MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea oio:hasExactSynonym oio:hasRelatedSynonym farmer syndrome OMIM:145590 hyperthermia, cutaneous, with headaches and nausea OMIM:145590 farmer syndrome OMIM:145590 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperpyrexia, malignant OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363 hyperpyrexia, malignant OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperthermia of anesthesia OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363, MESH:C535694 hyperthermia of anesthesia OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS MHS mhs OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145600, GARD:0003363, MESH:C535694 MHS OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS1 OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535694, GARD:0003363, MONDO:Lexical, OMIM:145600 MHS1 OMIM:145600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King syndrome King syndrome king syndrome OMIM:619542 king-denborough syndrome OMIM:145600 King syndrome OMIM:619542 -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King-Denborough syndrome King-Denborough syndrome king-denborough syndrome OMIM:619542 king-denborough syndrome OMIM:145600 King-Denborough syndrome OMIM:619542 MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650 hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone resistance, selective pituitary OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650, MONDO:Lexical thyroid hormone resistance, selective pituitary OMIM:145650 MONDO:0007785 hyperthyroxinemia, dystransthyretinemic oio:hasExactSynonym oio:hasRelatedSynonym euthryroidal hyperthyroxinemia 2 OMIM:145680 hyperthyroxinemia, dystransthyretinemic OMIM:145680 euthryroidal hyperthyroxinemia 2 OMIM:145680 @@ -1238,7 +1129,6 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE responsiveness, ATOPIC IgE responsiveness, ATOPIC ige responsiveness, atopic OMIM:147050 ige responsiveness, atopic OMIM:147050 IgE responsiveness, ATOPIC OMIM:147050 MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE, level of IgE, level of ige, level of OMIM:147050 ige responsiveness, atopic OMIM:147050 IgE, level of OMIM:147050 MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IGER OMIM:147050 ige responsiveness, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147050, MONDO:Lexical IGER OMIM:147050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome NCIT:C126342 hyper-IgE recurrent infection syndrome OMIMPS:147060 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused incisors Fused incisors fused incisors OMIM:147250 solitary median maxillary central incisor OMIM:147250 Fused incisors OMIM:147250 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym incisors, Fused incisors, Fused incisors, fused OMIM:147250 solitary median maxillary central incisor OMIM:147250 incisors, Fused OMIM:147250 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym single central maxillary incisor OMIM:147250 solitary median maxillary central incisor OMIM:147250 single central maxillary incisor OMIM:147250 @@ -1257,19 +1147,15 @@ MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSULINOMATOSIS and diabetes mellitus INSULINOMATOSIS and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 INSULINOMATOSIS and diabetes mellitus OMIM:147630 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym Insulinomatosis and diabetes mellitus Insulinomatosis and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 Insulinomatosis and diabetes mellitus OMIM:147630 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSDM OMIM:147630 insulinomatosis and diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147630 INSDM OMIM:147630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 NCIT:C4375 nesidioblastosis OMIM:601820 MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootoradial syndrome OMIM:147750 ivic syndrome OMIM:147750 oculootoradial syndrome OMIM:147750 MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 ivic syndrome OMIM:147750 radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 -MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 OORS OMIM:619356 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aadh syndrome Aadh syndrome aadh syndrome OMIM:147770 johnson neuroectodermal syndrome OMIM:147770 Aadh syndrome OMIM:147770 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome OMIM:147791 jacobsen syndrome OMIM:147791 chromosome 11q deletion syndrome OMIM:147791 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome OMIM:147791 jacobsen syndrome OMIM:147791 partial 11q monosomy syndrome OMIM:147791 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 1 Aase-Smith syndrome 1 aase-smith syndrome 1 OMIM:147800 aase-smith syndrome 1 OMIM:147800 Aase-Smith syndrome 1 OMIM:147800 MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Joint contractures with Other abnormalities Joint contractures with Other abnormalities joint contractures with other abnormalities OMIM:147800 aase-smith syndrome 1 OMIM:147800 Joint contractures with Other abnormalities OMIM:147800 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICPPS OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147891 ICPPS OMIM:147891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS OMIM:184850 stiff-person syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS OMIM:184850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS Xi, formerly EDS Xi, formerly eds xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 EDS Xi, formerly OMIM:147900 MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS11, formerly EDS11, formerly eds11, formerly OMIM:147900 joint laxity, familial OMIM:147900 EDS11, formerly OMIM:147900 MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Xi, formerly Ehlers-Danlos syndrome, type Xi, formerly ehlers-danlos syndrome, type xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 Ehlers-Danlos syndrome, type Xi, formerly OMIM:147900 @@ -1279,7 +1165,6 @@ MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome Kabuki syndrome kabuki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 Kabuki syndrome OMIM:147920 MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 Niikawa-Kuroki syndrome OMIM:147920 MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KABUK1 OMIM:147920 kabuki syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147920, MONDO:Lexical KABUK1 OMIM:147920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome OMIMPS:147920 Kabuki syndrome OMIM:147920 Kabuki syndrome OMIMPS:147920 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 2 Kallmann syndrome 2 kallmann syndrome 2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia OMIM:147950 Kallmann syndrome 2 OMIM:147950 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147950, MONDO:Lexical HH2 OMIM:147950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007845 Kaposi sarcoma, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 kaposi sarcoma, susceptibility to OMIM:148000 multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 @@ -1343,7 +1228,6 @@ MONDO:0007874 trichorhinophalangeal syndrome type II oio:hasExactSynonym oio:has MONDO:0007875 Larsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym LRS OMIM:150250 larsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:150250, MONDO:Lexical LRS OMIM:150250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym Labd Labd labd OMIM:150260 laryngeal abductor paralysis OMIM:150260 Labd OMIM:150260 MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:150260 vocal cord dysfunction, familial OMIM:150260 -MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:150260 vocal cord dysfunction, familial OMIM:308850 MONDO:0007877 laryngeal adductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, adductor type OMIM:150270 laryngeal adductor paralysis OMIM:150270 vocal cord dysfunction, adductor type OMIM:150270 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia OMIM:150280 laryngomalacia OMIM:150280 laryngomalacia OMIM:150280 MONDO:0007879 larynx atresia oio:hasExactSynonym oio:hasRelatedSynonym larynx, congenital partial atresia OF larynx, congenital partial atresia OF larynx, congenital partial atresia of OMIM:150300 larynx, congenital partial atresia of OMIM:150300 larynx, congenital partial atresia OF OMIM:150300 @@ -1442,7 +1326,6 @@ MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins-Franceschetti syndrome Treacher Collins-Franceschetti syndrome treacher collins-franceschetti syndrome OMIM:154500 treacher collins syndrome 1 OMIM:154500 Treacher Collins-Franceschetti syndrome OMIM:154500 MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis OMIM:154500 treacher collins syndrome 1 OMIM:154500 mandibulofacial dysostosis OMIM:154500 MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TCS1 OMIM:154500 treacher collins syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154500 TCS1 OMIM:154500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome OMIM:154500 Treacher Collins syndrome OMIMPS:154500 MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type oio:hasExactSynonym oio:hasRelatedSynonym phosphodiester glycoside deficiency OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese type OMIM:154570 phosphodiester glycoside deficiency OMIM:154570 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS OMIM:154780 marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 MRSHS OMIM:154780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007951 masticatory muscles, hypertrophy of oio:hasExactSynonym oio:hasRelatedSynonym masseter muscle Hypertrophy masseter muscle Hypertrophy masseter muscle hypertrophy OMIM:154850 masticatory muscles, hypertrophy of OMIM:154850 masseter muscle Hypertrophy OMIM:154850 @@ -1459,7 +1342,6 @@ MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSy MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, familial OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, familial OMIM:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, malignant OMIM:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym CMM1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155600 CMM1 OMIM:155600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant OMIM:155600 melanoma, cutaneous malignant OMIMPS:155600 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym CMM2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155601 CMM2 OMIM:155601 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007968 melanoma tumor antigen Gp90 oio:hasExactSynonym oio:hasRelatedSynonym Class 1 unique tumor antigen of melanoma Class 1 unique tumor antigen of melanoma class 1 unique tumor antigen of melanoma OMIM:155770 melanoma tumor antigen gp90 OMIM:155770 Class 1 unique tumor antigen of melanoma OMIM:155770 MONDO:0007969 Melkersson-Rosenthal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Melkersson syndrome Melkersson syndrome melkersson syndrome OMIM:155900 melkersson-rosenthal syndrome OMIM:155900 Melkersson syndrome OMIM:155900 @@ -1497,7 +1379,6 @@ MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym biman MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/or agenesis of the corpus callosum OMIM:157600 mirror movements 1 OMIM:157600 mirror movements 1 and/Or agenesis of the corpus callosum OMIM:157600 MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements, congenital OMIM:157600 mirror movements 1 OMIM:157600 mirror movements, congenital OMIM:157600 MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym MRMV1 OMIM:157600 mirror movements 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157600, MONDO:Lexical MRMV1 OMIM:157600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008004 familial mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym mitral valve prolapse, familial OMIM:157700 mitral valve prolapse 1 MONDO:Lexical, OMIM:157700 mitral valve prolapse, familial OMIM:157700 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 cardiospondylocarpofacial syndrome OMIM:157800 mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF OMIM:157800 cardiospondylocarpofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 CSCF OMIM:157800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis OMIM:157950 permanent molars, secondary retention of OMIM:157950 dental ankylosis OMIM:157950 @@ -1530,14 +1411,11 @@ MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atroph MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant MONDO:Lexical, OMIM:158600 spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant OMIM:158600 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 -MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810, MONDO:Lexical Bethlem myopathy 1 OMIM:158810 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 GARD:0009941, OMIM:158900, MESH:C536391 Landouzy-Dejerine muscular dystrophy OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 OMIM:158900, MESH:C536391 muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasNarrowSynonym muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1a OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900, GARD:0009941 muscular dystrophy, facioscapulohumeral, type 1A OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 OMIM:158900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 FMD OMIM:305620 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy OMIMPS:158900 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Fshd2, digenic Fshd2, digenic fshd2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 Fshd2, digenic OMIM:158901 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1b OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 muscular dystrophy, facioscapulohumeral, type 1B OMIM:158901 @@ -1569,8 +1447,6 @@ MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym E MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 1 OMIM:160500 myopathy, distal, 1 OMIM:160500, MONDO:Lexical myopathy, distal, 1 OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, early-onset, autosomal dominant OMIM:160500 myopathy, distal, 1 OMIM:160500 myopathy, distal, early-onset, autosomal dominant OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, late distal hereditary OMIM:160500 myopathy, distal, 1 OMIM:160500 myopathy, late distal hereditary OMIM:160500 -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate, 1 OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565, MONDO:Lexical myopathy, tubular aggregate, 1 OMIM:160565 -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565, MONDO:Lexical TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900 dystrophia myotonica 1 OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900, MONDO:Lexical myotonic dystrophy 1 OMIM:160900 MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Carney Myxoma-endocrine Complex Carney Myxoma-endocrine Complex carney myxoma-endocrine complex OMIM:160980 carney complex, type 1 OMIM:160980 Carney Myxoma-endocrine Complex OMIM:160980 @@ -1609,7 +1485,6 @@ MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasR MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephritis, IgA type nephritis, IgA type nephritis, iga type OMIM:161950 iga nephropathy, susceptibility to, 1 OMIM:161950 nephritis, IgA type OMIM:161950 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasBroadSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:162000 gouty nephropathy, familial juvenile OMIM:162000 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease 2, autosomal dominant OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:603860 medullary cystic kidney disease 2, autosomal dominant OMIM:162000 -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 neurilemmomatosis, congenital cutaneous OMIM:162091 MONDO:0008076 amyotrophic neuralgia oio:hasExactSynonym oio:hasRelatedSynonym HNA OMIM:162100 amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:162100 HNA OMIM:162100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008078 neurofibromatosis, familial spinal oio:hasExactSynonym oio:hasRelatedSynonym Fsnf Fsnf fsnf OMIM:162210 neurofibromatosis, familial spinal OMIM:162210 Fsnf OMIM:162210 MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome oio:hasExactSynonym oio:hasRelatedSynonym Npdc syndrome Npdc syndrome npdc syndrome OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome OMIM:162240 Npdc syndrome OMIM:162240 @@ -1674,8 +1549,6 @@ MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Male T MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 Noonan syndrome OMIM:163950 MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turner phenotype with normal karyotype Turner phenotype with normal karyotype turner phenotype with normal karyotype OMIM:163950 noonan syndrome 1 OMIM:163950 Turner phenotype with normal karyotype OMIM:163950 MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym female pseudo-Turner syndrome female pseudo-Turner syndrome female pseudo-turner syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 female pseudo-Turner syndrome OMIM:163950 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pterygium colli syndrome OMIM:265000 multiple pterygium syndrome, escobar variant OMIM:163950 pterygium colli syndrome OMIM:265000 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome OMIM:163950 Noonan syndrome OMIMPS:163950 MONDO:0008105 nose, anomalous shape of oio:hasExactSynonym oio:hasRelatedSynonym potato Nose potato Nose potato nose OMIM:164000 nose, anomalous shape of OMIM:164000 potato Nose OMIM:164000 MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 2, congenital, autosomal dominant NYSTAGMUS 2, congenital, autosomal dominant nystagmus 2, congenital, autosomal dominant OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100, MONDO:Lexical NYSTAGMUS 2, congenital, autosomal dominant OMIM:164100 MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Nystagmus, congenital motor, 2 Nystagmus, congenital motor, 2 nystagmus, congenital motor, 2 OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100 Nystagmus, congenital motor, 2 OMIM:164100 @@ -1694,7 +1567,6 @@ MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym oculodigitoesophagoduodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 oculodigitoesophagoduodenal syndrome OMIM:164280 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:164280 microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome OMIMPS:164280 Feingold syndrome OMIM:164280 Feingold syndrome OMIMPS:164280 MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym odontoma-dysphagia syndrome OMIM:164330 odontoma-dysphagia syndrome OMIM:164330 odontoma-dysphagia syndrome OMIM:164330 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Menzel type OPCA Menzel type OPCA menzel type opca OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 Menzel type OPCA OMIM:164400 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym OPCA 1 OPCA 1 opca 1 OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 OPCA 1 OMIM:164400 @@ -1771,7 +1643,6 @@ MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 buschke-ollendorff syndrome OMIM:166700 dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata OMIM:166700 buschke-ollendorff syndrome OMIM:166700 osteopathia condensans disseminata OMIM:166700 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOS Bos BOS OMIM:166700 buschke-ollendorff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166700, MONDO:Lexical BOS OMIM:166700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bos Bos bos OMIM:605039 bohring-opitz syndrome OMIM:166700, MONDO:Lexical Bos OMIM:605039 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopoikilosis and dacryocystitis OMIM:166705 osteopoikilosis and dacryocystitis OMIM:166705 osteopoikilosis and dacryocystitis OMIM:166705 MONDO:0008160 osteosclerosis with ichthyosis and fractures oio:hasExactSynonym oio:hasRelatedSynonym cortical thickening of long bones with bowing and ichthyosis OMIM:166740 osteosclerosis with ichthyosis and fractures OMIM:166740 cortical thickening of long bones with bowing and ichthyosis OMIM:166740 MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q13 deletion syndrome OMIM:166750 otodental dysplasia OMIM:166750 chromosome 11q13 deletion syndrome OMIM:166750 @@ -1821,7 +1692,6 @@ MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelated MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HPC HPC hpc OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 HPC OMIM:167800 MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym PCTT OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:167800, MESH:C537262, MONDO:Lexical PCTT OMIM:167800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13q-related OMIM:167870 panic disorder 1 OMIM:167870 panic disorder susceptibility locus, chromosome 13Q-related OMIM:167870 -MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder panic disorder Panic disorder OMIMPS:167870 Panic disorder OMIM:167870 panic disorder OMIMPS:167870 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, familial cutaneous OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 papillomatosis, familial cutaneous OMIM:167900 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of gougerot and carteaud OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 papillomatosis, reticulated and confluent, of Gougerot and Carteaud OMIM:167900 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym CARP carp CARP OMIM:167900 papillomatosis, confluent and reticulated http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167900 CARP OMIM:167900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1845,7 +1715,6 @@ MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym fora MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina, symmetric OMIM:168500 parietal foramina 1 OMIM:168500 parietal foramina, symmetric OMIM:168500 MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM PFM pfm OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168500 PFM OMIM:168500 MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM1 OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168500 PFM1 OMIM:168500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina MONDO:Lexical, OMIM:168500 parietal foramina OMIMPS:168500 MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with parietal foramina OMIM:168550 parietal foramina with cleidocranial dysplasia OMIM:168550 cleidocranial dysplasia with parietal foramina OMIM:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym PFMCCD OMIM:168550 parietal foramina with cleidocranial dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168550, MONDO:Lexical PFMCCD OMIM:168550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 1, autosomal dominant Parkinson disease 1, autosomal dominant parkinson disease 1, autosomal dominant OMIM:168601 parkinson disease 1, autosomal dominant OMIM:168601, MONDO:Lexical Parkinson disease 1, autosomal dominant OMIM:168601 @@ -1870,15 +1739,11 @@ MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:ha MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, adult-onset, autosomal dominant OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:Lexical, OMIM:169500 leukodystrophy, demyelinating, ADULT-onset, autosomal dominant OMIM:169500 MONDO:0008219 pemphigus vulgaris oio:hasExactSynonym oio:hasRelatedSynonym pemphigus vulgaris, familial OMIM:169610 pemphigus vulgaris, familial OMIM:169610 pemphigus vulgaris, familial OMIM:169610 MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasRelatedSynonym periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, potassium-sensitive cardiodysrhythmic type OMIM:170390 andersen cardiodysrhythmic periodic paralysis OMIM:170390 periodic paralysis, Potassium-sensitive cardiodysrhythmic type OMIM:170390 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS OMIM:208050 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS OMIM:301050 -MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym sodium channel muscle disease OMIM:608390 myotonia, potassium-aggravated GARD:0000195 sodium channel muscle disease OMIM:608390 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, aggressive, 1 OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, juvenile OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, juvenile OMIM:170650 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, prepubertal OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, prepubertal OMIM:170650 MONDO:0008230 peroxidase, salivary oio:hasExactSynonym oio:hasRelatedSynonym SAPX OMIM:170990 peroxidase, salivary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:170990 SAPX OMIM:170990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008233 pheochromocytoma oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma, susceptibility to OMIM:171300 pheochromocytoma OMIM:171300 pheochromocytoma, susceptibility to OMIM:171300 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary OMIM:155240 thyroid carcinoma, familial medullary OMIM:171400 thyroid carcinoma, familial medullary OMIM:155240 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2a OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 multiple endocrine neoplasia, type 2A OMIM:171400 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oio:hasExactSynonym oio:hasRelatedSynonym facioauriculoradial dysplasia OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia OMIM:171480 facioauriculoradial dysplasia OMIM:171480 @@ -1907,7 +1772,6 @@ MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroad MONDO:0008256 platelet membrane fluidity oio:hasExactSynonym oio:hasRelatedSynonym PMF OMIM:173560 platelet membrane fluidity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173560, MONDO:Lexical PMF OMIM:173560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym pneumothorax, primary spontaneous OMIM:173600 pneumothorax, primary spontaneous OMIM:173600 pneumothorax, primary spontaneous OMIM:173600 MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym PSP Psp PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173600 PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym Psp Psp psp OMIM:601104 supranuclear palsy, progressive, 1 OMIM:173600 Psp OMIM:601104 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome kindler syndrome OMIM:173650 kindler syndrome OMIM:173650 KINDLER syndrome OMIM:173650 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of kindler and weary OMIM:173650 kindler syndrome OMIM:173650 bullous acrokeratotic poikiloderma of Kindler and Weary OMIM:173650 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, weary type OMIM:173650 kindler syndrome OMIM:173650 poikiloderma, congenital, with bullae, Weary type OMIM:173650 @@ -1919,11 +1783,9 @@ MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease, adult OMIM:173900 MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult, type 1 OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease, adult, type 1 OMIM:173900 -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease MONDO:Lexical, OMIM:174050 polycystic liver disease OMIMPS:174050 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 polydactyly, postaxial OMIM:174200 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A postaxial polydactyly, type A postaxial polydactyly, type a OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 postaxial polydactyly, type A OMIM:174200 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym PAPA1 OMIM:174200 polydactyly, postaxial, type a1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174200, MONDO:Lexical PAPA1 OMIM:174200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial polydactyly, postaxial Polydactyly, postaxial OMIMPS:174200 Polydactyly, postaxial OMIM:174200 polydactyly, postaxial OMIMPS:174200 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym Ofds 5 Ofds 5 ofds 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 Ofds 5 OMIM:174300 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 5 oral-Facial-digital syndrome, type 5 oral-facial-digital syndrome, type 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 oral-Facial-digital syndrome, type 5 OMIM:174300 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 5 OMIM:174300 orofaciodigital syndrome 5 GARD:0004120 orofaciodigital syndrome 5 OMIM:174300 @@ -1933,9 +1795,6 @@ MONDO:0008269 polydactyly of a biphalangeal thumb oio:hasExactSynonym oio:hasRel MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly of triphalangeal thumb OMIM:174500 polydactyly, preaxial 2 OMIM:174500 polydactyly of triphalangeal thumb OMIM:174500 MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 2 OMIM:174500 polydactyly, preaxial 2 OMIM:174500 polydactyly, preaxial 2 OMIM:174500 MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polydactyly syndrome OMIM:174500 polydactyly, preaxial 2 OMIM:174500 triphalangeal thumb-polydactyly syndrome OMIM:174500 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 TPT-PS syndrome OMIM:190605 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb with polysyndactyly OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 triphalangeal thumb with polysyndactyly OMIM:190605 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polysyndactyly syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 triphalangeal thumb-polysyndactyly syndrome OMIM:190605 MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym index finger polydactyly OMIM:174600 polydactyly, preaxial 3 OMIM:174600 index finger polydactyly OMIM:174600 MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 3 OMIM:174600 polydactyly, preaxial 3 OMIM:174600 polydactyly, preaxial 3 OMIM:174600 MONDO:0008272 polysyndactyly 4 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 4 OMIM:174700 polydactyly, preaxial 4 OMIM:174700 polydactyly, preaxial 4 OMIM:174700 @@ -1991,7 +1850,6 @@ MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym PPOX MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata OMIM:176200 variegate porphyria OMIM:176200 porphyria variegata OMIM:176200 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, South African type porphyria, South African type porphyria, south african type OMIM:176200 variegate porphyria OMIM:176200 porphyria, South African type OMIM:176200 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym VP OMIM:176200 variegate porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007848 VP OMIM:176200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym variegate porphyria, homozygous variant OMIM:620483 variegate porphyria, childhood-onset OMIM:176200 variegate porphyria, homozygous variant OMIM:620483 MONDO:0008298 postaxial tetramelic oligodactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial oligodactyly, tetramelic OMIM:176240 postaxial oligodactyly, tetramelic OMIM:176240 postaxial oligodactyly, tetramelic OMIM:176240 MONDO:0008299 posterior column ataxia oio:hasExactSynonym oio:hasRelatedSynonym Biemond ataxia Biemond ataxia biemond ataxia OMIM:176250 posterior column ataxia OMIM:176250 Biemond ataxia OMIM:176250 MONDO:0008300 Prader-Willi syndrome oio:hasExactSynonym oio:hasRelatedSynonym PWS OMIM:176270 prader-willi syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176270, MONDO:Lexical PWS OMIM:176270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2005,7 +1863,6 @@ MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARIN MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 cerebral amyloid angiopathy, ITM2B-RELATED, 1 OMIM:176500 MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym dementia, familial British dementia, familial British dementia, familial british OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 dementia, familial British OMIM:176500 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria OMIM:176670 hutchinson-gilford progeria syndrome OMIM:176670, Orphanet:740 progeria OMIM:176670 -MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria OMIMPS:176670 Progeria OMIM:176670, Orphanet:740 progeria OMIMPS:176670 MONDO:0008311 progeria-short stature-pigmented nevi syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid short stature with pigmented nevi OMIM:176690 progeroid short stature with pigmented nevi OMIM:176690 progeroid short stature with pigmented nevi OMIM:176690 MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Habsburg jaw' 'Habsburg jaw' 'habsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 'Habsburg jaw' OMIM:176700 MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Hapsburg jaw' 'Hapsburg jaw' 'hapsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 'Hapsburg jaw' OMIM:176700 @@ -2020,7 +1877,6 @@ MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant oio: MONDO:0008318 Proteus syndrome oio:hasExactSynonym oio:hasRelatedSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 proteus syndrome OMIM:176920, MESH:C537716, GARD:0000170 gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrohepatic protoporphyria OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, GARD:0004527 erythrohepatic protoporphyria OMIM:177000 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic OMIM:177000 -MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, erythropoietic OMIMPS:177000 Protoporphyria, erythropoietic OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic OMIMPS:177000 MONDO:0008320 Protrusio acetabuli oio:hasExactSynonym oio:hasRelatedSynonym PROTRUSIO acetabuli PROTRUSIO acetabuli protrusio acetabuli OMIM:177050 protrusio acetabuli OMIM:177050 PROTRUSIO acetabuli OMIM:177050 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia OMIM:177170 spondyloepiphyseal dysplasia, Pseudoachondroplastic OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym PSACH OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:177170 PSACH OMIM:177170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2047,7 +1903,6 @@ MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiog MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP OMIM:178995 pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 PUPPP OMIM:178995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 pyloric stenosis, infantile OMIM:179010 MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 pyloric stenosis, infantile hypertrophic OMIM:179010 -MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic pyloric stenosis, infantile hypertrophic Pyloric stenosis, infantile hypertrophic OMIMPS:179010 Pyloric stenosis, infantile hypertrophic OMIM:179010 pyloric stenosis, infantile hypertrophic OMIMPS:179010 MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial RAY hypoplasia with choanal atresia radial RAY hypoplasia with choanal atresia radial ray hypoplasia with choanal atresia OMIM:179270 radial ray hypoplasia with choanal atresia OMIM:179270 radial RAY hypoplasia with choanal atresia OMIM:179270 MONDO:0008359 radio-renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial-renal syndrome OMIM:179280 radial-renal syndrome OMIM:179280 radial-renal syndrome OMIM:179280 MONDO:0008364 Raynaud disease oio:hasExactSynonym oio:hasRelatedSynonym cold fingers, hereditary OMIM:179600 raynaud disease OMIM:179600 cold fingers, hereditary OMIM:179600 @@ -2072,12 +1927,8 @@ MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone Degeneration retinal cone Degeneration retinal cone degeneration OMIM:180020 retinal cone dystrophy 1 OMIM:180020 retinal cone Degeneration OMIM:180020 MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 OMIM:180020 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 retinal cone dystrophy 1 OMIM:180020 MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCD1 OMIM:180020 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:180020 RCD1 OMIM:180020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa OMIM:268000 -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym RP OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268000, MONDO:Lexical RP OMIM:268000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa OMIMPS:268000 MONDO:0008381 dominant pericentral pigmentary retinopathy oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, pericentral pigmentary, dominant OMIM:180210 retinopathy, pericentral pigmentary, dominant OMIM:180210 retinopathy, pericentral pigmentary, dominant OMIM:180210 MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasRelatedSynonym rheumatoid arthritis, susceptibility to OMIM:180300 rheumatoid arthritis OMIM:180300 rheumatoid arthritis, susceptibility to OMIM:180300 -MONDO:0008385 rhiny oio:hasExactSynonym oio:hasRelatedSynonym craniorhiny OMIM:123050 craniorhiny OMIM:180360 craniorhiny OMIM:123050 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 1 Axenfeld-Rieger syndrome, type 1 axenfeld-rieger syndrome, type 1 OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500, MONDO:Lexical Axenfeld-Rieger syndrome, type 1 OMIM:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rgs Rgs rgs OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 Rgs OMIM:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rieg Rieg rieg OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 Rieg OMIM:180500 @@ -2134,7 +1985,6 @@ MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome shprintzen-goldberg craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212, MONDO:Lexical Shprintzen-Goldberg craniosynostosis syndrome OMIM:182212 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212 craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym oio:hasRelatedSynonym SCE, frequency of SCE, frequency of sce, frequency of OMIM:182220 sister chromatid exchange, frequency of OMIM:182220 SCE, frequency of OMIM:182220 -MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SGMRT1 OMIM:182250 singleton-merten syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182250, MONDO:Lexical SGMRT1 OMIM:182250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell cancer of the lung OMIM:182280 small cell cancer of the lung OMIM:182280 small cell cancer of the lung OMIM:182280 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC SCLC sclc OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 SCLC OMIM:182280 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SCLC1 SCLC1 sclc1 OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182280 SCLC1 OMIM:182280 @@ -2172,7 +2022,6 @@ MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090, MONDO:Lexical spinocerebellar ataxia 2 OMIM:183090 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, Cuban type spinocerebellar ataxia, Cuban type spinocerebellar ataxia, cuban type OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 spinocerebellar ataxia, Cuban type OMIM:183090 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 spinocerebellar atrophy 2 OMIM:183090 -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar Degeneration with slow eye movements spinocerebellar Degeneration with slow eye movements spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements OMIM:183090 spinocerebellar Degeneration with slow eye movements OMIM:271322 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome sgfld syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 Sgfld syndrome OMIM:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion limb defect syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion limb defect syndrome OMIM:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 @@ -2199,7 +2048,6 @@ MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynon MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, strudwick type OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 spondylometaepiphyseal dysplasia congenita, Strudwick type OMIM:184250 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 spondylometaphyseal dysplasia OMIM:184250 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym SEMDSTWK OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:184250 SEMDSTWK OMIM:184250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia OMIMPS:184255 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SmD, Kozlowski type SmD, Kozlowski type smd, kozlowski type OMIM:184252 spondylometaphyseal dysplasia, kozlowski type OMIM:184252 SmD, Kozlowski type OMIM:184252 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SMDK OMIM:184252 spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184252, MONDO:Lexical SMDK OMIM:184252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia, corner fracture type OMIM:184255 spondylometaphyseal dysplasia, corner fracture type OMIM:184255 spondylometaphyseal dysplasia, corner fracture type OMIM:184255 @@ -2215,7 +2063,6 @@ MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasRelatedSynony MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym polycystic ovary syndrome 1 OMIM:184700 polycystic ovary syndrome 1 OMIM:genemap2, MONDO:Lexical, OMIM:184700 polycystic ovary syndrome 1 OMIM:184700 MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym PCOS1 OMIM:184700 polycystic ovary syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184700, MONDO:Lexical PCOS1 OMIM:184700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome steinfeld syndrome OMIM:184705 steinfeld syndrome OMIM:184705 STEINFELD syndrome OMIM:184705 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS OMIM:182290 smith-magenis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 SMS OMIM:182290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome stiff-person syndrome OMIM:184850 stiff-person syndrome OMIM:184850 STIFF-PERSON syndrome OMIM:184850 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome stiff-man syndrome OMIM:184850 stiff-person syndrome OMIM:184850 Stiff-Man syndrome OMIM:184850 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-trunk syndrome Stiff-trunk syndrome stiff-trunk syndrome OMIM:184850 stiff-person syndrome OMIM:184850 Stiff-trunk syndrome OMIM:184850 @@ -2226,8 +2073,6 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym Potassium-sodium disorder of erythrocyte Potassium-sodium disorder of erythrocyte potassium-sodium disorder of erythrocyte OMIM:185000 overhydrated hereditary stomatocytosis OMIM:185000 Potassium-sodium disorder of erythrocyte OMIM:185000 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical OHS OMIM:185000 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHST OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000 OHST OMIM:185000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OMIM:304150 occipital horn syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical OHS OMIM:304150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008494 cryohydrocytosis oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Cardiff pseudohyperkalemia Cardiff pseudohyperkalemia cardiff OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:185020 pseudohyperkalemia Cardiff OMIM:609153 MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym storage pool platelet disease OMIM:185050 storage pool platelet disease OMIM:185050 storage pool platelet disease OMIM:185050 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Thrombocytopathy, asplenia, and miosis Thrombocytopathy, asplenia, and miosis thrombocytopathy, asplenia, and miosis OMIM:185070 stormorken syndrome OMIM:185070 Thrombocytopathy, asplenia, and miosis OMIM:185070 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym york Platelet syndrome york Platelet syndrome york platelet syndrome OMIM:185070 stormorken syndrome OMIM:185070 york Platelet syndrome OMIM:185070 @@ -2242,7 +2087,6 @@ MONDO:0008507 surface polypeptides, anonymous oio:hasExactSynonym oio:hasRelated MONDO:0008508 symphalangism, C. S. Lewis type oio:hasExactSynonym oio:hasRelatedSynonym thumbs, stiff OMIM:185650 symphalangism, c. s. lewis type OMIM:185650 thumbs, stiff OMIM:185650 MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym Sym2 Sym2 sym2 OMIM:185700 symphalangism, distal OMIM:185700 Sym2 OMIM:185700 MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym symphalangism, distal OMIM:185700 symphalangism, distal OMIM:185700 symphalangism, distal OMIM:185700 -MONDO:0008511 proximal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 hereditary absence of the proximal interphalangeal joints OMIM:185800 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sd1 Sd1 sd1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 Sd1 OMIM:185900 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q35 DUPLICATION syndrome chromosome 2q35 DUPLICATION syndrome chromosome 2q35 duplication syndrome OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 chromosome 2q35 DUPLICATION syndrome OMIM:185900 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly, type 1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 syndactyly, type 1 OMIM:185900 @@ -2327,8 +2171,6 @@ MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome oio MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:188400 chromosome 22Q11.2 deletion syndrome OMIM:188400 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplasia of thymus and parathyroids OMIM:188400 digeorge syndrome OMIM:188400 hypoplasia of thymus and parathyroids OMIM:188400 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym third and fourth pharyngeal pouch syndrome OMIM:188400 digeorge syndrome OMIM:188400 third and fourth pharyngeal pouch syndrome OMIM:188400 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:188400 chromosome 22Q11.2 deletion syndrome OMIM:192430 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome OMIM:192430 velocardiofacial syndrome NCIT:C2989 velocardiofacial syndrome OMIM:192430 MONDO:0008565 familial thyroglossal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym thyroglossal duct cyst, familial OMIM:188455 thyroglossal duct cyst, familial OMIM:188455 thyroglossal duct cyst, familial OMIM:188455 MONDO:0008566 thyroid cancer, nonmedullary, 2 oio:hasExactSynonym oio:hasRelatedSynonym NMTC2 OMIM:188470 thyroid cancer, nonmedullary, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188470 NMTC2 OMIM:188470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial nonmedullary thyroid cancer, papillary OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:188550 familial nonmedullary thyroid cancer, papillary OMIM:188550 @@ -2338,8 +2180,6 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelated MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 Gthr OMIM:188570 MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 thyroid hormone unresponsiveness OMIM:188570 -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 Gthr OMIM:274300 -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 thyroid hormone unresponsiveness OMIM:274300 MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym TTPP1 OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188580, MONDO:Lexical TTPP1 OMIM:188580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym Osteochondrosis deformans tibiae, infantile Osteochondrosis deformans tibiae, infantile osteochondrosis deformans tibiae, infantile OMIM:188700 blount disease, infantile OMIM:188700 Osteochondrosis deformans tibiae, infantile OMIM:188700 MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym tibia vara, infantile OMIM:188700 blount disease, infantile OMIM:188700 tibia vara, infantile OMIM:188700 @@ -2367,7 +2207,6 @@ MONDO:0008598 trichodysplasia-xeroderma syndrome oio:hasExactSynonym oio:hasRela MONDO:0008599 trigeminal neuralgia oio:hasExactSynonym oio:hasRelatedSynonym Tic douloureux Tic douloureux tic douloureux OMIM:190400 trigeminal neuralgia OMIM:190400 Tic douloureux OMIM:190400 MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:190440 craniosynostosis, metopic OMIM:190440 MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO1 OMIM:190440 trigonocephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190440, MONDO:Lexical TRIGNO1 OMIM:190440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:190440 craniosynostosis, metopic OMIM:614485 MONDO:0008606 Say-field-Coldwell syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs and dislocation of patella OMIM:190650 triphalangeal thumbs and dislocation of patella OMIM:190650 triphalangeal thumbs and dislocation of patella OMIM:190650 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs with brachyectrodactyly OMIM:190680 triphalangeal thumbs with brachyectrodactyly OMIM:190680 triphalangeal thumbs with brachyectrodactyly OMIM:190680 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 OMIM:190685 down syndrome OMIM:190685, Orphanet:870, NCIT:C2993 trisomy 21 OMIM:190685 @@ -2398,7 +2237,6 @@ MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MU MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uda syndrome Uda syndrome uda syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 Uda syndrome OMIM:191900 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym urticaria-deafness-amyloidosis syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 urticaria-deafness-amyloidosis syndrome OMIM:191900 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS MWS mws OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS OMIM:248700 MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis OMIM:192050 MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, bifid OMIM:192100 uvula, bifid OMIM:192100 uvula, bifid OMIM:192100 MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, cleft OMIM:192100 uvula, bifid OMIM:192100 uvula, cleft OMIM:192100 @@ -2406,7 +2244,6 @@ MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varicose MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym cerebroretinal vasculopathy, hereditary OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 cerebroretinal vasculopathy, hereditary OMIM:192315 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena OMIM:192315 MONDO:0008642 VACTERL/vater association oio:hasExactSynonym oio:hasRelatedSynonym VATER/VACTERL association VATER/VACTERL association vater/vacterl association OMIM:192350 vater/vacterl association OMIM:192350 VATER/VACTERL association OMIM:192350 -MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:192430 chromosome 22Q11.2 deletion syndrome OMIM:188400 MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:192430 chromosome 22Q11.2 deletion syndrome OMIM:192430 MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome oio:hasExactSynonym oio:hasRelatedSynonym ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence OMIM:192445 MONDO:0008647 hypertrophic cardiomyopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym Cmh Cmh cmh OMIM:192600 cardiomyopathy, familial hypertrophic, 1 OMIM:192600 Cmh OMIM:192600 @@ -2479,10 +2316,8 @@ MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperka MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to red cell leak OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 pseudohyperkalemia, familial, 1, due to Red cell leak OMIM:194380 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym xerocytosis, hereditary OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 xerocytosis, hereditary OMIM:194380 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS1 OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380 DHS1 OMIM:194380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS DHS dhs OMIM:304350 deafness-hypogonadism syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380, MONDO:Lexical DHS OMIM:304350 MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym albumin binding of zinc, elevated OMIM:194470 zinc, elevated plasma OMIM:194470 albumin binding of zinc, elevated OMIM:194470 MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia, familial Dysalbuminemic hyperzincemia, familial Dysalbuminemic hyperzincemia, familial dysalbuminemic OMIM:194470 zinc, elevated plasma OMIM:194470 hyperzincemia, familial Dysalbuminemic OMIM:194470 -MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia and hypercalprotectinemia OMIM:601979 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia OMIM:194470 hyperzincemia and hypercalprotectinemia OMIM:601979 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym Bassen-Kornzweig syndrome Bassen-Kornzweig syndrome bassen-kornzweig syndrome OMIM:200100 abetalipoproteinemia OMIM:200100 Bassen-Kornzweig syndrome OMIM:200100 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym MTP deficiency MTP deficiency mtp deficiency OMIM:200100 abetalipoproteinemia OMIM:200100 MTP deficiency OMIM:200100 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym acanthocytosis OMIM:200100 abetalipoproteinemia OMIM:200100 acanthocytosis OMIM:200100 @@ -2514,7 +2349,6 @@ MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelate MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 OMIM:genemap2, OMIM:201000 Carpenter syndrome OMIM:201000 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 OMIM:201000 acrocephalopolysyndactyly type 2 OMIM:201000 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRPT1 OMIM:201000 carpenter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201000 CRPT1 OMIM:201000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome OMIM:genemap2, OMIM:201000 Carpenter syndrome OMIMPS:201000 MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type MONDO:Lexical, OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym Rodriguez lethal acrofacial dysostosis syndrome Rodriguez lethal acrofacial dysostosis syndrome rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 Rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of rodriguez OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 acrofacial dysostosis syndrome of Rodriguez OMIM:201170 @@ -2592,14 +2426,12 @@ MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400, GARD:0005660 aldosterone deficiency 1 OMIM:203400 MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym steroid 18-hydroxylase deficiency OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 steroid 18-hydroxylase deficiency OMIM:203400 -MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:203400 hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym ALXDRD OMIM:203450 alexander disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203450 ALXDRD OMIM:203450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym AKU aku AKU OMIM:203500 alkaptonuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203500 AKU OMIM:203500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ACD mental retardation syndrome ACD mental retardation syndrome acd mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 ACD mental retardation syndrome OMIM:203550 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Moynahan alopecia syndrome Moynahan alopecia syndrome moynahan alopecia syndrome OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 Moynahan alopecia syndrome OMIM:203600 MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of Moynahan OMIM:203600 -MONDO:0008756 alopecia - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Amr syndrome Amr syndrome amr syndrome OMIM:203650 alopecia-intellectual disability syndrome 1 OMIM:203650 Amr syndrome OMIM:203650 MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym ALUNC OMIM:203655 alopecia universalis congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203655 ALUNC OMIM:203655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis OMIM:203700 MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700, MONDO:Lexical mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM:203700 @@ -2614,7 +2446,6 @@ MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria alpha-methylacetoacetic aciduria OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 ALPHA-methylacetoacetic aciduria OMIM:203750 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 Mat deficiency OMIM:203750 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-coa thiolase deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 mitochondrial acetoacetyl-Coa thiolase deficiency OMIM:203750 -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency OMIM:203750 Mat deficiency OMIM:250850 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym amaurosis congenita of Leber 1 amaurosis congenita of Leber 1 amaurosis congenita of leber 1 OMIM:204000 leber congenital amaurosis 1 OMIM:204000 amaurosis congenita of Leber 1 OMIM:204000 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal blindness, congenital OMIM:204000 leber congenital amaurosis 1 OMIM:204000 retinal blindness, congenital OMIM:204000 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 LCA OMIM:204000 @@ -2655,7 +2486,6 @@ MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym iron-hand MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudo-iron-deficiency Anemia pseudo-iron-deficiency Anemia pseudo-iron-deficiency anemia OMIM:206200 iron-refractory iron deficiency anemia OMIM:206200 pseudo-iron-deficiency Anemia OMIM:206200 MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym IRIDA OMIM:206200 iron-refractory iron deficiency anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206200, MONDO:Lexical IRIDA OMIM:206200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym ANPH ANPH anph OMIM:206500 anencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206500 ANPH OMIM:206500 -MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym anencephaly anencephaly Anencephaly OMIMPS:206500 Anencephaly OMIM:206500 anencephaly OMIMPS:206500 MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipoma Microthromboticum angiolipoma Microthromboticum angiolipoma microthromboticum OMIM:206550 angiolipomatosis, familial OMIM:206550 angiolipoma Microthromboticum OMIM:206550 MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipomatosis, familial OMIM:206550 angiolipomatosis, familial OMIM:206550 angiolipomatosis, familial OMIM:206550 MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert oio:hasExactSynonym oio:hasRelatedSynonym Divry-Van Bogaert syndrome Divry-Van Bogaert syndrome divry-van bogaert syndrome OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert OMIM:206570 Divry-Van Bogaert syndrome OMIM:206570 @@ -2695,13 +2525,10 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym GACI1 OMIM:208000 arterial calcification, generalized, of infancy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208000, MONDO:Lexical GACI1 OMIM:208000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial tortuosity OMIM:208050 arterial tortuosity syndrome OMIM:208050 arterial tortuosity OMIM:208050 MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS OMIM:208050 -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS OMIM:301050 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 Arc syndrome OMIM:208085 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical ARCS1 OMIM:208085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym AMC, neurogenic type AMC, neurogenic type amc, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type OMIM:208100 AMC, neurogenic type OMIM:208100 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type MONDO:Lexical, OMIM:208100 arthrogryposis multiplex congenita, neurogenic type OMIM:208100 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 fetal akinesia sequence OMIM:208150 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome illum syndrome OMIM:208155 illum syndrome OMIM:208155 ILLUM syndrome OMIM:208155 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, whistling face, and developmental retardation OMIM:208155 illum syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:208155 arthrogryposis, whistling face, and developmental retardation OMIM:208155 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with hyperkeratosis OMIM:208158 arthrogryposis with hyperkeratosis OMIM:208158 arthrogryposis with hyperkeratosis OMIM:208158 @@ -2736,7 +2563,6 @@ MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia o MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oio:hasExactSynonym oio:hasRelatedSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 MONDO:0008846 atransferrinemia oio:hasExactSynonym oio:hasRelatedSynonym hypotransferrinemia, familial OMIM:209300 atransferrinemia OMIM:209300 hypotransferrinemia, familial OMIM:209300 MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008848 atrioventricular dissociation oio:hasExactSynonym oio:hasRelatedSynonym A-V dissociation A-V dissociation a-v dissociation OMIM:209600 atrioventricular dissociation OMIM:209600 A-V dissociation OMIM:209600 MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata OMIM:209700 Atrophodermia reticulata symmetrica faciei OMIM:209700 MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata OMIM:209700 Atrophodermia vermiculata OMIM:209700 @@ -2748,18 +2574,6 @@ MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARB MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:209885 Bss OMIM:209885 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 barber-say syndrome OMIM:209885, GARD:0000819 hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BBRSAY OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885, MONDO:Lexical BBRSAY OMIM:209885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:209885 Bss OMIM:605041 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 2 Bare lymphocyte syndrome, type 2 bare lymphocyte syndrome, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bare lymphocyte syndrome, type 2 OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group A Bare lymphocyte syndrome, type II, complementation group A bare lymphocyte syndrome, type ii, complementation group a OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group A OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 2 Bls, type 2 bls, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bls, type 2 OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCID, HLA Class II-negative SCID, HLA Class II-negative scid, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920, MESH:C537079 SCID, HLA Class II-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 severe combined immunodeficiency, HLA Class II-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 GARD:0000824, MESH:C537079 severe combined immunodeficiency, HLA class ii-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group B Bare lymphocyte syndrome, type II, complementation group B bare lymphocyte syndrome, type ii, complementation group B OMIM:620815 mhc class 2 deficiency 2 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group B OMIM:620815 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group C Bare lymphocyte syndrome, type II, complementation group C bare lymphocyte syndrome, type ii, complementation group c OMIM:620816 mhc class 2 deficiency 3 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group C OMIM:620816 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group D Bare lymphocyte syndrome, type II, complementation group D bare lymphocyte syndrome, type ii, complementation group d OMIM:620817 mhc class 2 deficiency 4 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group D OMIM:620817 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group E Bare lymphocyte syndrome, type II, complementation group E bare lymphocyte syndrome, type ii, complementation group e OMIM:620818 mhc class 2 deficiency 5 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group E OMIM:620818 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IFNGR1 deficiency, autosomal recessive IFNGR1 deficiency, autosomal recessive ifngr1 deficiency, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 IFNGR1 deficiency, autosomal recessive OMIM:209950 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27a, mycobacteriosis, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 immunodeficiency 27A, Mycobacteriosis, autosomal recessive OMIM:209950 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A OMIM:209950 immunodeficiency 27a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical IMD27A OMIM:209950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2785,7 +2599,6 @@ MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2 deficiency MCC2 deficiency mcc2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 MCC2 deficiency OMIM:210210 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria, type 2 OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 methylcrotonylglycinuria, type 2 OMIM:210210 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2D OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:210210 MCC2D OMIM:210210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008863 sitosterolemia oio:hasExactSynonym oio:hasRelatedSynonym STSL STSL stsl OMIM:210250 sitosterolemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210250 STSL OMIM:210250 MONDO:0008864 Biemond syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Biemond syndrome 2 Biemond syndrome 2 biemond syndrome 2 OMIM:210350 biemond syndrome 2 GARD:0000882 Biemond syndrome 2 OMIM:210350 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti crystalline dystrophy Bietti crystalline dystrophy bietti crystalline dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 Bietti crystalline dystrophy OMIM:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti tapetoretinal Degeneration with marginal corneal dystrophy Bietti tapetoretinal Degeneration with marginal corneal dystrophy bietti tapetoretinal degeneration with marginal corneal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 Bietti tapetoretinal Degeneration with marginal corneal dystrophy OMIM:210370 @@ -2815,12 +2628,8 @@ MONDO:0008882 congenital bowing of long bones oio:hasExactSynonym oio:hasRelated MONDO:0008886 Sabinas brittle hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle hair and mental Deficit brittle hair and mental Deficit brittle hair and mental deficit OMIM:211390 sabinas brittle hair syndrome OMIM:211390 brittle hair and mental Deficit OMIM:211390 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:211400 cystic fibrosis-like syndrome OMIM:211400 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym BESC1 OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211400, MONDO:Lexical BESC1 OMIM:211400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:211400 cystic fibrosis-like syndrome OMIM:613021 -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:211400 cystic fibrosis-like syndrome OMIM:613071 MONDO:0008888 Williams-Campbell syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRONCHOMALACIA BRONCHOMALACIA bronchomalacia OMIM:211450 williams-campbell syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211450 BRONCHOMALACIA OMIM:211450 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease buerger disease OMIM:211480 buerger disease OMIM:211480 BUERGER disease OMIM:211480 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 brown-vialetto-van laere syndrome 1 OMIM:211530 brown-vialetto-van laere syndrome 1 OMIM:211530, MONDO:Lexical Brown-Vialetto-Van Laere syndrome 1 OMIM:211530 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 OMIM:211530 brown-vialetto-van laere syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530, MONDO:Lexical BVVLS1 OMIM:211530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 1 OMIM:211600 cholestasis, progressive familial intrahepatic, 1 MONDO:Lexical, OMIM:211600 cholestasis, progressive familial intrahepatic, 1 OMIM:211600 MONDO:0008893 C syndrome oio:hasExactSynonym oio:hasRelatedSynonym trigonocephaly syndrome OMIM:211750 c syndrome OMIM:211750 trigonocephaly syndrome OMIM:211750 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataract, hypertrichosis, mental retardation syndrome OMIM:211770 cahmr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:211770 cataract, hypertrichosis, mental retardation syndrome OMIM:211770 @@ -2836,7 +2645,6 @@ MONDO:0008904 camptomelic syndrome, long-limb type oio:hasExactSynonym oio:hasRe MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARD9 immunodeficiency CARD9 immunodeficiency card9 immunodeficiency OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 CARD9 immunodeficiency OMIM:212050 MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 2 OMIM:212050 immunodeficiency 103, susceptibility to fungal infections MONDO:Lexical, OMIM:212050 candidiasis, familial, 2 OMIM:212050 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:212050 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Jaeken syndrome Jaeken syndrome jaeken syndrome OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 Jaeken syndrome OMIM:212065 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type ia, formerly OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 carbohydrate-deficient glycoprotein syndrome, type Ia, formerly OMIM:212065 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type ia OMIM:212065 congenital disorder of glycosylation, type ia MONDO:Lexical, OMIM:212065 congenital disorder of glycosylation, type Ia OMIM:212065 @@ -2860,7 +2668,6 @@ MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine transporter, plasma-Membrane, deficiency of Carnitine transporter, plasma-Membrane, deficiency of carnitine transporter, plasma-membrane, deficiency of OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 Carnitine transporter, plasma-Membrane, deficiency of OMIM:212140 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine uptake defect Carnitine uptake defect carnitine uptake defect OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 Carnitine uptake defect OMIM:212140 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic Carnitine deficiency systemic Carnitine deficiency systemic carnitine deficiency OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 systemic Carnitine deficiency OMIM:212140 -MONDO:0008921 carnosinemia oio:hasExactSynonym oio:hasRelatedSynonym homocarnosinosis OMIM:236130 homocarnosinosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:1361 homocarnosinosis OMIM:236130 MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy and cataract OMIM:212350 sengers syndrome OMIM:212350 cardiomyopathy and cataract OMIM:212350 MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) OMIM:212350 sengers syndrome OMIM:212350 mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) OMIM:212350 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym Ppkca, Wallis type Ppkca, Wallis type ppkca, wallis type OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 OMIM:212360 Ppkca, Wallis type OMIM:212360 @@ -2897,7 +2704,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cereb MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 Joubert syndrome OMIM:213300 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 Joubert-Boltshauser syndrome OMIM:213300 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 4 OMIM:213300 joubert syndrome 1 OMIM:213300 cerebelloparenchymal disorder 4 OMIM:213300 -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome OMIM:213300 Joubert syndrome OMIMPS:213300 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym Spinodentate atrophy Spinodentate atrophy spinodentate atrophy OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 Spinodentate atrophy OMIM:213400 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 5 OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 cerebelloparenchymal disorder 5 OMIM:213400 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of hunt OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 dyssynergia cerebellaris myoclonica of Hunt OMIM:213400 @@ -2915,7 +2721,6 @@ MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym o MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal recessive OMIM:214300 klippel-feil syndrome 2, autosomal recessive OMIM:214300 cervical vertebral fusion, autosomal recessive OMIM:214300 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym KFS2 OMIM:214300 klippel-feil syndrome 2, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214300, MONDO:Lexical KFS2 OMIM:214300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008959 CHAND syndrome oio:hasExactSynonym oio:hasRelatedSynonym curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 chand syndrome OMIM:214350 curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness OMIM:214370 Charcot-Marie-Tooth disease and deafness OMIM:118300 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 Charcot-Marie-Tooth disease and deafness OMIM:214370 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness with Charcot-Marie-Tooth disease deafness with Charcot-Marie-Tooth disease deafness with charcot-marie-tooth disease OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 deafness with Charcot-Marie-Tooth disease OMIM:214370 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 @@ -2935,7 +2740,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym choles MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema-cholestasis syndrome OMIM:214900 cholestasis-lymphedema syndrome OMIM:214900 lymphedema-cholestasis syndrome OMIM:214900 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 4 OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950, MONDO:Lexical bile acid synthesis defect, congenital, 4 OMIM:214950 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950 cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid OMIM:214950 -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency AMACR deficiency amacr deficiency OMIM:614307 alpha-methylacyl-coa racemase deficiency Orphanet:79095 AMACR deficiency OMIM:614307 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 chondrodysplasia punctata, rhizomelic form OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodystrophia calcificans punctata OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 chondrodystrophia calcificans punctata OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2948,13 +2752,10 @@ MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBG MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym chordoma, susceptibility to OMIM:215400 chordoma, susceptibility to MONDO:Lexical, OMIM:215400 chordoma, susceptibility to OMIM:215400 MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym CHDM OMIM:215400 chordoma, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215400 CHDM OMIM:215400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008981 infantile choroidocerebral calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus calcification and mental retardation OMIM:215480 choroid plexus calcification and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:215480 choroid plexus calcification and mental retardation OMIM:215480 -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500, MONDO:Lexical choroidal dystrophy, central areolar, 1 OMIM:215500 -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215500 CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008984 ciliary discoordination due to random ciliary orientation oio:hasExactSynonym oio:hasRelatedSynonym Rutland ciliary disorientation syndrome Rutland ciliary disorientation syndrome rutland ciliary disorientation syndrome OMIM:215518 ciliary discoordination due to random ciliary orientation OMIM:215518 Rutland ciliary disorientation syndrome OMIM:215518 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Citrullinuria Citrullinuria citrullinuria OMIM:215700 citrullinemia, classic OMIM:215700 Citrullinuria OMIM:215700 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, classic OMIM:215700 citrullinemia, classic OMIM:215700 citrullinemia, classic OMIM:215700 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, type 1 OMIM:215700 citrullinemia, classic OMIM:215700 citrullinemia, type 1 OMIM:215700 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia OMIMPS:215700 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia OMIMPS:215700 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clh syndrome Clh syndrome clh syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 Clh syndrome OMIM:215850 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft-limb-heart malformation syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 MONDO:0008992 Juberg-Hayward syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft LIP/palate with abnormal thumbs and microcephaly cleft LIP/palate with abnormal thumbs and microcephaly cleft lip/palate with abnormal thumbs and microcephaly OMIM:216100 juberg-hayward syndrome OMIM:216100 cleft LIP/palate with abnormal thumbs and microcephaly OMIM:216100 @@ -2996,7 +2797,6 @@ MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular corneal dystrophy, type 1 OMIM:217800 macular dystrophy, corneal OMIM:217800 macular corneal dystrophy, type 1 OMIM:217800 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, corneal OMIM:217800 macular dystrophy, corneal MONDO:Lexical, OMIM:217800 macular dystrophy, corneal OMIM:217800 MONDO:0009021 Toriello-Carey syndrome oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 corpus callosum, agenesis of, with facial anomalies and ROBIN sequence OMIM:217980 -MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 ACC OMIM:217990 MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym cortical blindness, retardation, and postaxial polydactyly OMIM:218010 cortical blindness, retardation, and postaxial polydactyly OMIM:218010 cortical blindness, retardation, and postaxial polydactyly OMIM:218010 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym Ame1 Ame1 ame1 OMIM:218030 apparent mineralocorticoid excess OMIM:218030 Ame1 OMIM:218030 @@ -3005,7 +2805,6 @@ MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelat MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym AME OMIM:218030 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218030 AME OMIM:218030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009026 Costello syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSTLO OMIM:218040 costello syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218040, MONDO:Lexical CSTLO OMIM:218040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 crane-heise syndrome OMIM:218090 cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome temtamy syndrome OMIM:218340 temtamy syndrome OMIM:218340 TEMTAMY syndrome OMIM:218340 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 temtamy syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:218340 mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 @@ -3020,7 +2819,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym B MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with radial defects OMIM:218600 baller-gerold syndrome OMIM:218600 craniosynostosis with radial defects OMIM:218600 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-radial aplasia syndrome OMIM:218600 baller-gerold syndrome OMIM:218600 craniosynostosis-radial aplasia syndrome OMIM:218600 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BGS OMIM:218600 baller-gerold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218600 BGS OMIM:218600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009046 Fraser syndrome oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos with Other malformations OMIM:219000 MONDO:0009047 cryptorchidism oio:hasExactSynonym oio:hasRelatedSynonym cryptorchidism, unilateral or bilateral OMIM:219050 cryptorchidism, unilateral or bilateral OMIM:219050 cryptorchidism, unilateral or bilateral OMIM:219050 MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym oio:hasRelatedSynonym claw-like fingers and toes OMIM:219070 curved nail of fourth toe OMIM:219070 claw-like fingers and toes OMIM:219070 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous photosensitivity and colitis, lethal OMIM:219095 cutaneous photosensitivity and colitis, lethal OMIM:219095 cutaneous photosensitivity and colitis, lethal OMIM:219095 @@ -3050,7 +2848,6 @@ MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 Craniocerebellocardiac dysplasia OMIM:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym RTSC1 OMIM:220210 ritscher-schinzel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220210 RTSC1 OMIM:220210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 Ritscher-Schinzel syndrome OMIMPS:220210 MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy OMIM:220219 dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:220219 Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY OMIM:220219 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with postaxial polydactyly Dandy-Walker malformation with postaxial polydactyly dandy-walker malformation with postaxial polydactyly OMIM:220220 dandy-walker malformation with postaxial polydactyly OMIM:220220 Dandy-Walker malformation with postaxial polydactyly OMIM:220220 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 1A deafness, autosomal recessive 1A deafness, autosomal recessive 1a OMIM:220290 deafness, autosomal recessive 1a MONDO:Lexical, OMIM:220290 deafness, autosomal recessive 1A OMIM:220290 @@ -3074,9 +2871,6 @@ MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abno MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, 3 OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750, MONDO:Lexical pituitary hormone deficiency, combined, 3 OMIM:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750 pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym CPHD3 OMIM:221750 pituitary hormone deficiency, combined, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:221750, GARD:0010603, MONDO:Lexical CPHD3 OMIM:221750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym brain-bone-fat disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 brain-bone-fat disease OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, prefrontal, with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 dementia, prefrontal, with bone cysts OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Francois syndrome Francois syndrome francois syndrome OMIM:221800 dermochondrocorneal dystrophy OMIM:221800 Francois syndrome OMIM:221800 MONDO:0009095 dermatoosteolysis, Kirghizian type oio:hasExactSynonym oio:hasRelatedSynonym Kirghizian Dermatoosteolysis Kirghizian Dermatoosteolysis kirghizian dermatoosteolysis OMIM:221810 dermatoosteolysis, kirghizian type OMIM:221810 Kirghizian Dermatoosteolysis OMIM:221810 MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal vasculature OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive OMIM:221900 persistent fetal vasculature OMIM:221900 @@ -3090,7 +2884,6 @@ MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diabe MONDO:0009102 diaminopentanuria oio:hasExactSynonym oio:hasRelatedSynonym cystine-lysinuria OMIM:222350 diaminopentanuria OMIM:222350 cystine-lysinuria OMIM:222350 MONDO:0009103 diaphragmatic hernia 2 oio:hasExactSynonym oio:hasRelatedSynonym DIH2 OMIM:222400 diaphragmatic hernia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222400 DIH2 OMIM:222400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria OMIM:222448 donnai-barrow syndrome OMIM:222448 diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria OMIM:222448 -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 OMIM:222470 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 THES1 OMIM:222470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD DD dd OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 DD OMIM:222600 MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DTD OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600, MONDO:Lexical DTD OMIM:222600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009108 hyperdibasic aminoaciduria type 1 oio:hasExactSynonym oio:hasRelatedSynonym dibasic amino aciduria 1 OMIM:222690 dibasic amino aciduria 1 OMIM:222690 dibasic amino aciduria 1 OMIM:222690 @@ -3142,7 +2935,6 @@ MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 Meier-Gorlin syndrome OMIM:224690 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microtia, absent patellae, micrognathia syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 microtia, absent patellae, micrognathia syndrome OMIM:224690 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MGORS1 OMIM:224690 meier-gorlin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224690, MONDO:Lexical MGORS1 OMIM:224690 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome OMIM:224690 Meier-Gorlin syndrome OMIMPS:224690 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome schopf-schulz-passarge syndrome OMIM:224750 schopf-schulz-passarge syndrome MONDO:Lexical, OMIM:224750 SCHOPF-Schulz-Passarge syndrome OMIM:224750 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym eccrine tumors with ectodermal dysplasia OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 eccrine tumors with ectodermal dysplasia OMIM:224750 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 @@ -3150,8 +2942,6 @@ MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome oio:hasExactS MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, anhidrotic OMIM:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, hypohidrotic OMIM:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical ECTD10B OMIM:224900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, anhidrotic OMIM:614941 -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, hypohidrotic OMIM:614941 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita island type OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome OMIM:225060 ectodermal dysplasia, margarita Island type OMIM:225060 @@ -3205,8 +2995,6 @@ MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSyn MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa junctionalis, progressive OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 epidermolysis bullosa Junctionalis, progressive OMIM:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa junctionalis, severe nonlethal OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 epidermolysis bullosa Junctionalis, severe Nonlethal OMIM:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym junctional epidermolysis bullosa inversa OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 junctional epidermolysis bullosa inversa OMIM:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, generalized atrophic benign OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 epidermolysis bullosa, generalized atrophic benign OMIM:619787 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, localisata variant OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 epidermolysis bullosa, junctional, Localisata variant OMIM:619787 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym MD-EBS MD-EBS md-ebs OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy OMIM:226670, GARD:0002137 MD-EBS OMIM:226670 MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa junctionalis, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 epidermolysis bullosa Junctionalis, Herlitz type OMIM:226700 MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 epidermolysis bullosa, junctional, Herlitz type OMIM:226700 @@ -3268,7 +3056,6 @@ MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:ha MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi pancytopenia, type 4 Fanconi pancytopenia, type 4 fanconi pancytopenia, type 4 OMIM:227646 fanconi anemia, complementation group d2 OMIM:227646 Fanconi pancytopenia, type 4 OMIM:227646 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a OMIM:227650 Fanconi Anemia OMIM:227650 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A fanconi anemia, complementation group a OMIM:227650 fanconi anemia, complementation group a OMIM:227650, MONDO:Lexical Fanconi anemia, complementation group A OMIM:227650 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia OMIMPS:227650 Fanconi anemia OMIM:227650 Fanconi Anemia OMIMPS:227650 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type glycogenosis, Fanconi type glycogenosis, fanconi type OMIM:227810 fanconi-bickel syndrome OMIM:227810 glycogenosis, Fanconi type OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with fanconi nephropathy OMIM:227810 fanconi-bickel syndrome OMIM:227810 hepatic glycogenosis with Fanconi nephropathy OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 @@ -3276,7 +3063,6 @@ MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynon MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 fanconi-bickel syndrome GARD:0002268 hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudo-phlorizin diabetes OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 pseudo-phlorizin diabetes OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:227810 fanconi-bickel syndrome http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 glycogen storage disease 11 OMIM:227810 -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 glycogen storage disease 11 OMIM:612933 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym AC deficiency AC deficiency ac deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 AC deficiency OMIM:228000 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency n-laurylsphingosine deacylase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 N-Laurylsphingosine deacylase deficiency OMIM:228000 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym ceramidase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 ceramidase deficiency OMIM:228000 @@ -3316,9 +3102,6 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria figlu-uria OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 Figlu-Uria OMIM:229100 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 formiminotransferase deficiency OMIM:229100 MONDO:0009241 fountain syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 fountain syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:229120 mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 OMIM:229200 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical brittle cornea syndrome 1 OMIM:229200 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:229200 BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 OMIM:614170 brittle cornea syndrome 2 DOID:14775 brittle cornea syndrome 2 OMIM:614170 MONDO:0009243 Fraser-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 fraser-like syndrome OMIM:229230 Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Ffnd Ffnd ffnd OMIM:229400 frontofacionasal dysplasia OMIM:229400 Ffnd OMIM:229400 MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Frontofacionasal dysostosis Frontofacionasal dysostosis frontofacionasal dysostosis OMIM:229400 frontofacionasal dysplasia OMIM:229400 Frontofacionasal dysostosis OMIM:229400 @@ -3336,7 +3119,6 @@ MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedS MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency galt deficiency OMIM:230400 galactosemia 1 OMIM:230400 Galt deficiency OMIM:230400 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 galactosemia 1 OMIM:230400 galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia, classic OMIM:230400 galactosemia 1 OMIM:230400 galactosemia, classic OMIM:230400 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia OMIM:230400 galactosemia OMIMPS:230400 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Beta-galactosidase-1 deficiency beta-galactosidase-1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 Beta-galactosidase-1 deficiency OMIM:230500 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym GM1-gangliosidosis, type 1 GM1-gangliosidosis, type 1 gm1-gangliosidosis, type 1 OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 GM1-gangliosidosis, type 1 OMIM:230500 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency glb1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 Glb1 deficiency OMIM:230500 @@ -3371,7 +3153,6 @@ MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelated MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform Mole, complete OMIM:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform mole OMIM:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym HYDM1 OMIM:231090 hydatidiform mole, recurrent, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231090, MONDO:Lexical HYDM1 OMIM:231090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:231090 hydatidiform Mole, complete OMIM:614293 MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia ghosal hematodiaphyseal dysplasia OMIM:231095 ghosal hematodiaphyseal dysplasia OMIM:231095 GHOSAL hematodiaphyseal dysplasia OMIM:231095 MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHDD OMIM:231095 ghosal hematodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231095, GARD:0010297, MONDO:Lexical GHDD OMIM:231095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym Nh Nh nh OMIM:231100 hemochromatosis, neonatal OMIM:231100 Nh OMIM:231100 @@ -3380,13 +3161,11 @@ MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym giant cell Hepatitis, formerly giant cell Hepatitis, formerly giant cell hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 giant cell Hepatitis, formerly OMIM:231100 MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym hemochromatosis, neonatal OMIM:231100 hemochromatosis, neonatal OMIM:231100 hemochromatosis, neonatal OMIM:231100 MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym neonatal Hepatitis, formerly neonatal Hepatitis, formerly neonatal hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 neonatal Hepatitis, formerly OMIM:231100 -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:209885 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency platelet glycoprotein ib deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 Platelet glycoprotein Ib deficiency OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Von Willebrand Factor receptor deficiency Von Willebrand Factor receptor deficiency von willebrand factor receptor deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 Von Willebrand Factor receptor deficiency OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 1 bleeding disorder, Platelet-type, 1 bleeding disorder, platelet-type, 1 OMIM:231200 bernard-soulier syndrome OMIM:231200 bleeding disorder, Platelet-type, 1 OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym glycoprotein Ib, Platelet, deficiency of glycoprotein Ib, Platelet, deficiency of glycoprotein ib, platelet, deficiency of OMIM:231200 bernard-soulier syndrome OMIM:231200 glycoprotein Ib, Platelet, deficiency of OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:605041 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos OMIM:231300 glaucoma 3, primary congenital, a DOID:11211, OMIM:231300 buphthalmos OMIM:231300 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma 3, primary congenital, A glaucoma 3, primary congenital, A glaucoma 3, primary congenital, a OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300, MONDO:Lexical glaucoma 3, primary congenital, A OMIM:231300 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma, congenital OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300 glaucoma, congenital OMIM:231300 @@ -3464,7 +3243,6 @@ MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym renal glucosuria OMIM:233100 renal glucosuria OMIM:233100, GARD:0007548, MONDO:Lexical renal glucosuria OMIM:233100 MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym GLYS OMIM:233100 renal glucosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:233100 GLYS OMIM:233100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009298 GOMBO syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 gombo syndrome OMIM:233270 Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 -MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym XX gonadal dysgenesis XX gonadal dysgenesis xx gonadal dysgenesis OMIM:233300 ovarian dysgenesis 1 OMIM:233300 XX gonadal dysgenesis OMIM:233300 MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis ovarian dysgenesis Ovarian dysgenesis OMIMPS:233300 Ovarian dysgenesis OMIMPS:233300 ovarian dysgenesis OMIMPS:233300 MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym gonadal dysgenesis, 20 type, with deafness OMIM:233400 perrault syndrome 1 OMIM:233400 gonadal dysgenesis, 20 type, with deafness OMIM:233400 MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis with sensorineural deafness OMIM:233400 perrault syndrome 1 OMIM:233400 ovarian dysgenesis with sensorineural deafness OMIM:233400 @@ -3512,7 +3290,6 @@ MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 oio:hasE MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lymphatic dysplasia, generalized OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 lymphatic dysplasia, generalized OMIM:235510 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HKLLS1 OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:235510 HKLLS1 OMIM:235510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym hepatic venoocclusive disease with immunodeficiency OMIM:235550 hepatic venoocclusive disease with immunodeficiency OMIM:235550, MONDO:Lexical hepatic venoocclusive disease with immunodeficiency OMIM:235550 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym VODI OMIM:235550 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537257, MONDO:Lexical, OMIM:235550, GARD:0010083 VODI OMIM:235550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009339 congenital bile acid synthesis defect 2 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 2 OMIM:235555 bile acid synthesis defect, congenital, 2 OMIM:235555, MONDO:Lexical bile acid synthesis defect, congenital, 2 OMIM:235555 @@ -3539,7 +3316,6 @@ MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficie MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym methylcobalamin deficiency, cblE type methylcobalamin deficiency, cblE type methylcobalamin deficiency, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 methylcobalamin deficiency, cblE type OMIM:236270 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type vitamin B12-responsive homocystinuria, cblE type vitamin b12-responsive homocystinuria, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 vitamin B12-responsive homocystinuria, cblE type OMIM:236270 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE OMIM:236270 homocystinuria-megaloblastic anemia, cble type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 HMAE OMIM:236270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:143050 MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:236400 MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cond OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome OMIM:236450 cond OMIM:236450 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly OMIM:236500 @@ -3559,7 +3335,6 @@ MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670, MONDO:Lexical muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM:236670 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 MDDGA1 OMIM:236670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical HLS1 OMIM:236680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome hydrolethalus syndrome Hydrolethalus syndrome OMIMPS:236680 Hydrolethalus syndrome OMIM:genemap2, OMIM:236680 hydrolethalus syndrome OMIMPS:236680 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 MCKUSICK-Kaufman syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 hydrometrocolpos syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 mckusick-kaufman syndrome OMIM:236700 hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 @@ -3571,7 +3346,6 @@ MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 OMIM:236730 urofacial syndrome OMIM:236730 MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome 1 OMIM:236730 urofacial syndrome 1 OMIM:236730, MONDO:Lexical urofacial syndrome 1 OMIM:236730 MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym UFS1 OMIM:236730 urofacial syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236730, MONDO:Lexical UFS1 OMIM:236730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome OMIM:236730 urofacial syndrome OMIMPS:236730 MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym hydrops fetalis, nonimmune OMIM:236750 hydrops fetalis, nonimmune OMIM:236750, MONDO:Lexical hydrops fetalis, nonimmune OMIM:236750 MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym NIHF OMIM:236750 hydrops fetalis, nonimmune http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236750 NIHF OMIM:236750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009370 L-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym L2HGA OMIM:236792 l-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236792, MONDO:Lexical L2HGA OMIM:236792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3615,7 +3389,6 @@ MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym L-lysine: MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 1 OMIM:238700 hyperlysinemia, type 1 OMIM:238700 hyperlysinemia, type 1 OMIM:238700 MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine intolerance OMIM:238700 hyperlysinemia, type 1 OMIM:238700 lysine intolerance OMIM:238700 MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine:Alpha-ketoglutarate reductase deficiency lysine:Alpha-ketoglutarate reductase deficiency lysine:alpha-ketoglutarate reductase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:238700 lysine:Alpha-ketoglutarate reductase deficiency OMIM:238700 -MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:238700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 MONDO:0009390 hyperlysinuria with hyperammonemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, periodic OMIM:238750 hyperlysinuria with hyperammonemia OMIM:238750 hyperlysinemia, periodic OMIM:238750 MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome hhh syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 Hhh syndrome OMIM:238970 MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 @@ -3694,13 +3467,10 @@ MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oi MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly OMIM:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosis, congenital, autosomal recessive 2 MONDO:Lexical, OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242100 collodion baby, self-healing OMIM:242300 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242100 collodion baby, self-healing OMIM:606545 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Desmons syndrome Desmons syndrome desmons syndrome OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 Desmons syndrome OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym KID syndrome, autosomal recessive KID syndrome, autosomal recessive kid syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 KID syndrome, autosomal recessive OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasNarrowSynonym ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242300 collodion baby, self-healing OMIM:242100 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 collodion baby, self-healing OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion fetus OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 collodion fetus OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym desquamation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300, GARD:0003170 desquamation of newborn OMIM:242300 @@ -3710,7 +3480,6 @@ MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oi MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 1, formerly OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 ichthyosis, lamellar, 1, formerly OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym lamellar exfoliation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 lamellar exfoliation of newborn OMIM:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242300 collodion baby, self-healing OMIM:606545 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym 'Harlequin fetus' 'Harlequin fetus' 'harlequin fetus' OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 'Harlequin fetus' OMIM:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis congenita, Harlequin fetus type ichthyosis congenita, Harlequin fetus type ichthyosis congenita, harlequin fetus type OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 ichthyosis congenita, Harlequin fetus type OMIM:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4b OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500, MONDO:Lexical ichthyosis, congenital, autosomal recessive 4B OMIM:242500 @@ -3743,7 +3512,6 @@ MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome oi MONDO:0009468 pseudotumor cerebri oio:hasExactSynonym oio:hasRelatedSynonym intracranial hypertension, idiopathic OMIM:243200 intracranial hypertension, idiopathic OMIM:243200 intracranial hypertension, idiopathic OMIM:243200 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Summerskill syndrome Summerskill syndrome summerskill syndrome OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 GARD:0010028, OMIM:243300 Summerskill syndrome OMIM:243300 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 OMIM:243300, MONDO:Lexical cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasBroadSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic OMIM:genemap2, OMIM:243300 cholestasis, benign recurrent intrahepatic OMIMPS:243300 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 baraitser-winter syndrome 1 OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 Baraitser-WINTER syndrome 1 OMIM:243310 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculofacial lymphatic syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 cerebrooculofacial lymphatic syndrome OMIM:243310 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7P22 deletion syndrome chromosome 7P22 deletion syndrome chromosome 7p22 deletion syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 chromosome 7P22 deletion syndrome OMIM:243310 @@ -3769,10 +3537,8 @@ MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome with bilateral chorioretinal coloboma Joubert syndrome with bilateral chorioretinal coloboma joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 arima syndrome GARD:0009455, OMIM:243910 Joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculohepatorenal syndrome OMIM:243910 arima syndrome OMIM:243910 cerebrooculohepatorenal syndrome OMIM:243910 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 arima syndrome OMIM:243910 coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 -MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 5 Joubert syndrome 5 joubert syndrome 5 OMIM:610188 joubert syndrome 5 GARD:0009455 Joubert syndrome 5 OMIM:610188 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH3 OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:244200 HH3 OMIM:244200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym oio:hasRelatedSynonym long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft lip/palate and eye, heart, and intestinal anomalies OMIM:244300 kapur-toriello syndrome OMIM:244300 long columella with cleft Lip/palate and eye, heart, and intestinal anomalies OMIM:244300 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244400 PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 Polynesian bronchiectasis OMIM:244400 MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1 OMIM:244400 ciliary dyskinesia, primary, 1 MONDO:Lexical, OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 @@ -3817,11 +3583,8 @@ MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactS MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis, fatal infantile, formerly OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 lactic acidosis, fatal infantile, formerly OMIM:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400, MONDO:Lexical mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS9 OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:245400 MTDPS9 OMIM:245400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 lactoferrin-deficient neutrophils OMIM:245480 -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 neutrophil lactoferrin deficiency OMIM:245480 MONDO:0009507 Lambert syndrome oio:hasExactSynonym oio:hasRelatedSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 lambert syndrome OMIM:245550 branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 MONDO:0009508 Lambotte syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine growth retardation OMIM:245552 lambotte syndrome OMIM:245552 microcephaly, holoprosencephaly, and intrauterine Growth retardation OMIM:245552 -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes OMIM:117100 centralopathic epilepsy OMIM:245570 benign epilepsy of childhood with centrotemporal spikes OMIM:117100 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym aphasia, acquired, with epilepsy OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 aphasia, acquired, with epilepsy OMIM:245570 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym FESD OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 FESD OMIM:245570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3842,7 +3605,6 @@ MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRel MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency hmg-coa lyase deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 HMG-Coa lyase deficiency OMIM:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym Hmgcl deficiency Hmgcl deficiency hmgcl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 Hmgcl deficiency OMIM:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMGCLD OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:246450 HMGCLD OMIM:246450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:246450 HL deficiency OMIM:614025 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 limb defects, distal transverse, with impaired intellectual development and spasticity http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym Shsf3 Shsf3 shsf3 OMIM:246560 split-hand/foot malformation 3 OMIM:246560 Shsf3 OMIM:246560 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 10Q24 Duplication syndrome chromosome 10Q24 Duplication syndrome chromosome 10q24 duplication syndrome OMIM:246560 split-hand/foot malformation 3 OMIM:246560 chromosome 10Q24 Duplication syndrome OMIM:246560 @@ -3898,13 +3660,6 @@ MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSA MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal OMIM:248510 lysosomal Beta-mannosidase deficiency OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym mannosidosis, BETA A, lysosomal mannosidosis, BETA A, lysosomal mannosidosis, beta a, lysosomal OMIM:248510 mannosidosis, beta a, lysosomal MONDO:Lexical, OMIM:248510 mannosidosis, BETA A, lysosomal OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSB OMIM:248510 mannosidosis, beta a, lysosomal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248510, MONDO:Lexical MANSB OMIM:248510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency OMIM:246900 dihydrolipoamide dehydrogenase deficiency DOID:9269, OMIM:246900 dihydrolipoamide dehydrogenase deficiency OMIM:246900 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym Keto acid decarboxylase deficiency Keto acid decarboxylase deficiency keto acid decarboxylase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 Keto acid decarboxylase deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain alpha-keto acid dehydrogenase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 branched-chain Alpha-Keto acid dehydrogenase deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1A maple syrup urine disease, type 1A maple syrup urine disease, type 1a OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 maple syrup urine disease, type 1A OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1B maple syrup urine disease, type 1B maple syrup urine disease, type 1b OMIM:620698 maple syrup urine disease, type 1b OMIM:248600 maple syrup urine disease, type 1B OMIM:620698 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 2 OMIM:620699 maple syrup urine disease, type 2 OMIM:248600 maple syrup urine disease, type 2 OMIM:620699 -MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS Mws MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248700 MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome OMIM:248700 MARDEN-WALKER syndrome OMIM:248700 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mws Mws mws OMIM:248700 marden-walker syndrome OMIM:248700 Mws OMIM:248700 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWKS OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:248700 MWKS OMIM:248700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3918,7 +3673,6 @@ MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome Meckel syndrome meckel syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Meckel syndrome OMIM:249000 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Meckel-Gruber syndrome OMIM:249000 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mes Mes mes OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Mes OMIM:249000 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome OMIMPS:249000 Meckel syndrome MESH:C536133, OMIM:249000 Meckel syndrome OMIMPS:249000 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial MEDITERRANEAN FEVER familial MEDITERRANEAN FEVER familial mediterranean fever OMIM:249100 familial mediterranean fever OMIM:249100 familial MEDITERRANEAN FEVER OMIM:249100 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial Mediterranean fever familial Mediterranean fever familial mediterranean fever OMIM:249100 familial mediterranean fever MONDO:Lexical, OMIM:249100 familial Mediterranean fever OMIM:249100 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym polyserositis, familial paroxysmal OMIM:249100 familial mediterranean fever OMIM:249100 polyserositis, familial paroxysmal OMIM:249100 @@ -4034,9 +3788,6 @@ MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 MONDO:Lexical, OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251270 MCCRP1 OMIM:251270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM:251280 microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 GARD:0000065, OMIM:251300 microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 galloway-mowat syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:251300 cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 OMIM:251450 desbuquois syndrome OMIM:251450 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 OMIM:251450 micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBQD1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251450 DBQD1 OMIM:251450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4046,7 +3797,6 @@ MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:251600 anophthalmia, clinical, isolated OMIM:251600 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 1 OMIM:251600 microphthalmia, isolated 1 OMIM:251600, MONDO:Lexical microphthalmia, isolated 1 OMIM:251600 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmos, autosomal recessive OMIM:251600 microphthalmia, isolated 1 OMIM:251600 microphthalmos, autosomal recessive OMIM:251600 -MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:251600 anophthalmia, clinical, isolated OMIM:610093 MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma oio:hasExactSynonym oio:hasRelatedSynonym MSPKA OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:251750, MONDO:Lexical MSPKA OMIM:251750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte brush-border abnormalities OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis OMIM:251850 congenital familial protracted diarrhea with enterocyte Brush-border abnormalities OMIM:251850 MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 2, with microvillus atrophy OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis MONDO:Lexical, OMIM:251850 diarrhea 2, with microvillus atrophy OMIM:251850 @@ -4064,7 +3814,6 @@ MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome oio:hasExactSyno MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease Moyamoya disease moyamoya disease OMIM:252350 moyamoya disease 1 OMIM:252350 Moyamoya disease OMIM:252350 MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease 1 Moyamoya disease 1 moyamoya disease 1 OMIM:252350 moyamoya disease 1 OMIM:252350, MONDO:Lexical Moyamoya disease 1 OMIM:252350 MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of willis OMIM:252350 moyamoya disease 1 OMIM:252350 spontaneous occlusion of the circle of Willis OMIM:252350 -MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease OMIMPS:252350 Moyamoya disease OMIM:252350 Moyamoya disease OMIMPS:252350 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym ML 2 Alpha/Beta ML 2 Alpha/Beta ml 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 ML 2 Alpha/Beta OMIM:252500 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 OMIM:252500 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 @@ -4144,11 +3893,8 @@ MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:h MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy ullrich congenital muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 Ullrich congenital muscular dystrophy OMIM:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 Ullrich disease OMIM:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Scleroatonic muscular dystrophy, Scleroatonic muscular dystrophy, scleroatonic OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 muscular dystrophy, Scleroatonic OMIM:254090 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy OMIMPS:254090 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich congenital muscular dystrophy OMIMPS:254090 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Hutterite type muscular dystrophy, Hutterite type muscular dystrophy, hutterite type OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110 muscular dystrophy, Hutterite type OMIM:254110 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2h OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110, MONDO:Lexical muscular dystrophy, limb-girdle, type 2H OMIM:254110 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 OMIM:254130 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 OMIM:254130 miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 OMIM:254130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009688 myasthenia gravis oio:hasExactSynonym oio:hasRelatedSynonym MG OMIM:254200 myasthenia gravis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254200, MONDO:Lexical MG OMIM:254200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2, formerly CMS Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759 CMS Ia2, formerly OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ia2, formerly Cms Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 Cms Ia2, formerly OMIM:254210 @@ -4157,22 +3903,15 @@ MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelate MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, familial infantile, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, MESH:C535759 myasthenia, familial infantile, formerly OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759, OMIM:254210, MONDO:Lexical myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, GARD:0009689, MESH:C535759 myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 CMS1A OMIM:601462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ib, formerly Cms Ib, formerly cms ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 Cms Ib, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 congenital myasthenic syndrome type IB, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, limb-girdle, familial, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 myasthenia, limb-girdle, familial, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic myopathy, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 myasthenic myopathy, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 10 OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300, MONDO:Lexical myasthenic syndrome, congenital, 10 OMIM:254300 -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 CMS1B OMIM:608930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis OMIM:254450 myelofibrosis OMIM:254450 myelofibrosis OMIM:254450 MONDO:0009694 myeloperoxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPOD OMIM:254600 myeloperoxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254600, MONDO:Lexical MPOD OMIM:254600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome Janz syndrome janz syndrome OMIM:254770 epilepsy, myoclonic juvenile DOID:4890, OMIM:254770 Janz syndrome OMIM:254770 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym petit mal, impulsive OMIM:254770 epilepsy, myoclonic juvenile OMIM:254770 petit mal, impulsive OMIM:254770 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Epm2 Epm2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Epm2 OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Lafora body disease Lafora body disease lafora body disease OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Lafora body disease OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Melf Melf melf OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Melf OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2a OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 epilepsy, progressive myoclonic, 2A OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2b OMIM:620681 myoclonic epilepsy of lafora 2 OMIM:254780 epilepsy, progressive myoclonic, 2B OMIM:620681 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Baltic myoclonic epilepsy Baltic myoclonic epilepsy baltic myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 Baltic myoclonic epilepsy OMIM:254800 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uld Uld uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 Uld OMIM:254800 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 1 OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 epilepsy, progressive myoclonic, 1 OMIM:254800 @@ -4232,16 +3971,12 @@ MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical HHF1 OMIM:256450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 hyperinsulinism, congenital OMIM:601820 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Comel-Netherton syndrome Comel-Netherton syndrome comel-netherton syndrome OMIM:256500 netherton syndrome OMIM:256500 Comel-Netherton syndrome OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease Netherton disease netherton disease OMIM:256500 netherton syndrome OMIM:256500 Netherton disease OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-ige OMIM:256500 netherton syndrome OMIM:256500 erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym NETH neth NETH OMIM:256500 netherton syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256500 NETH OMIM:256500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Neu-Laxova syndrome neu-laxova syndrome OMIM:256520 neu-laxova syndrome 1 OMIM:256520 Neu-Laxova syndrome OMIM:256520 MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym NLS1 OMIM:256520 neu-laxova syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256520, MONDO:Lexical NLS1 OMIM:256520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome OMIMPS:256520 Neu-Laxova syndrome OMIM:256520 Neu-Laxova syndrome OMIMPS:256520 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym PPCA deficiency PPCA deficiency ppca deficiency OMIM:256540 galactosialidosis OMIM:256540 PPCA deficiency OMIM:256540 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym cathepsin A deficiency cathepsin A deficiency cathepsin a deficiency OMIM:256540 galactosialidosis OMIM:256540 cathepsin A deficiency OMIM:256540 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal protective Protein deficiency lysosomal protective Protein deficiency lysosomal protective protein deficiency OMIM:256540 galactosialidosis OMIM:256540 lysosomal protective Protein deficiency OMIM:256540 @@ -4288,9 +4023,6 @@ MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 CSNB, complete, autosomal recessive OMIM:257270 MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1b OMIM:257270 night blindness, congenital stationary, type 1b MONDO:Lexical, OMIM:257270 night blindness, congenital stationary, type 1B OMIM:257270 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:257270 CSNB, complete, autosomal recessive OMIM:613216 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:257270 CSNB, complete, autosomal recessive OMIM:613830 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:257270 CSNB, complete, autosomal recessive OMIM:614565 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MOSAIC variegated aneuploidy syndrome 1 OMIM:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA syndrome MVA syndrome mva syndrome OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MVA syndrome OMIM:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257300 MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4315,7 +4047,6 @@ MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3MC1 OM MONDO:0009771 oculotrichodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OTD OMIM:257960 oculotrichodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257960 OTD OMIM:257960 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome ORC syndrome orc syndrome OMIM:257970 oculorenocerebellar syndrome OMIM:257970 ORC syndrome OMIM:257970 MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym odontoonychodermal dysplasia OMIM:257980 odontoonychodermal dysplasia MONDO:Lexical, OMIM:257980 odontoonychodermal dysplasia OMIM:257980 -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) OMIM:257980 ectodermal dysplasia OMIMPS:305100 MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym Oguchi disease 1 Oguchi disease 1 oguchi disease 1 OMIM:258100 oguchi disease 1 OMIM:258100 Oguchi disease 1 OMIM:258100 MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, oguchi type 1 OMIM:258100 oguchi disease 1 OMIM:258100 night blindness, congenital stationary, Oguchi type 1 OMIM:258100 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility OMIM:258150 spermatogenic failure 1 OMIM:258150 Oligochiasmatic infertility OMIM:258150 @@ -4389,7 +4120,6 @@ MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSy MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis syndrome, recessive OMIM:259610 osteolysis syndrome, recessive OMIM:259610 osteolysis syndrome, recessive OMIM:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:259610 osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance OMIM:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0004144 osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 -MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym osteomyelitis, chronic multifocal OMIM:259680 chronic recurrent multifocal osteomyelitis 3 OMIM:259680 osteomyelitis, chronic multifocal OMIM:259680 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopenia and sparse hair OMIM:259690 osteopenia and sparse hair OMIM:259690 osteopenia and sparse hair OMIM:259690 MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym Albers-Schonberg disease, autosomal recessive Albers-Schonberg disease, autosomal recessive albers-schonberg disease, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 Albers-Schonberg disease, autosomal recessive OMIM:259700 MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym marble bones, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 marble bones, autosomal recessive OMIM:259700 @@ -4421,10 +4151,6 @@ MONDO:0009826 PA polymorphism of alpha-2-globulin oio:hasExactSynonym oio:hasRel MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 15, autosomal recessive early-onset Parkinson disease 15, autosomal recessive early-onset parkinson disease 15, autosomal recessive early-onset OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300, MONDO:Lexical Parkinson disease 15, autosomal recessive early-onset OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym pallido-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300 pallido-pyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym PARK15 OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260300, MONDO:Lexical PARK15 OMIM:260300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis 1 OMIM:260370 pancreatic agenesis 1 OMIM:260370, MONDO:Lexical pancreatic agenesis 1 OMIM:260370 -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260370 PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Bodian syndrome OMIM:260400 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 lipomatosis of pancreas, congenital OMIM:260400 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym panencephalitis, SUBACUTE sclerosing panencephalitis, SUBACUTE sclerosing panencephalitis, subacute sclerosing OMIM:260470 subacute sclerosing panencephalitis OMIM:260470 panencephalitis, SUBACUTE sclerosing OMIM:260470 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus OMIM:260500 papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus OMIM:260500 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4432,7 +4158,6 @@ MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome oio:hasExactS MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile Cerebellooptic atrophy infantile Cerebellooptic atrophy infantile cerebellooptic atrophy OMIM:260565 peho syndrome OMIM:260565 infantile Cerebellooptic atrophy OMIM:260565 MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 peho syndrome OMIM:260565 progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHO peho PEHO OMIM:260565 peho syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260565 PEHO OMIM:260565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome OMIM:617507 peho-like syndrome OMIM:260565 peho-like syndrome OMIM:617507 MONDO:0009843 hypomyelinating leukodystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 3 OMIM:260600 leukodystrophy, hypomyelinating, 3 OMIM:260600, MONDO:Lexical leukodystrophy, hypomyelinating, 3 OMIM:260600 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome cousin syndrome OMIM:260660 cousin syndrome OMIM:260660 COUSIN syndrome OMIM:260660 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 cousin syndrome OMIM:260660 craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 @@ -4447,7 +4172,6 @@ MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSyno MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSynonym periodontitis, chronic OMIM:260950 periodontitis, chronic OMIM:260950 periodontitis, chronic OMIM:260950 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 intrinsic factor deficiency OMIM:261000 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasRelatedSynonym pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious anemia, congenital, due to defect of intrinsic factor OMIM:261000 intrinsic factor deficiency OMIM:261000 pernicious Anemia, congenital, due to defect of intrinsic Factor OMIM:261000 -MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym oio:hasRelatedSynonym enterocyte cobalamin malabsorption OMIM:261100 imerslund-grasbeck syndrome 1 OMIM:261100 enterocyte cobalamin malabsorption OMIM:261100 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym DBP deficiency DBP deficiency dbp deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 DBP deficiency OMIM:261515 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym Pbfe deficiency Pbfe deficiency pbfe deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 Pbfe deficiency OMIM:261515 @@ -4641,7 +4365,6 @@ MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia and retinal aplasia OMIM:266900 senior-loken syndrome 1 OMIM:266900 renal dysplasia and retinal aplasia OMIM:266900 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 OMIM:266900 renal-retinal syndrome OMIM:266900 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SLSN1 OMIM:266900 senior-loken syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:266900, MONDO:Lexical SLSN1 OMIM:266900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Senior-Loken syndrome OMIMPS:266900 Senior-Loken syndrome OMIM:266900 Senior-Loken syndrome OMIMPS:266900 MONDO:0009963 Ulbright-Hodes syndrome oio:hasExactSynonym oio:hasRelatedSynonym RL syndrome RL syndrome rl syndrome OMIM:266910 renal dysplasia-limb defects syndrome OMIM:266910 RL syndrome OMIM:266910 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 MONDO:0009965 Perlman syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor OMIM:267000 perlman syndrome OMIM:267000 nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor OMIM:267000 @@ -4668,7 +4391,6 @@ MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSyn MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700, MONDO:Lexical hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic reticulosis, familial OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 hemophagocytic reticulosis, familial OMIM:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym reticulosis, familial histiocytic OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 reticulosis, familial histiocytic OMIM:267700 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial OMIM:267700 hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 @@ -4695,10 +4417,8 @@ MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRe MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym costovertebral segmentation defect with mesomelia, formerly OMIM:268310 robinow syndrome, autosomal recessive 1 OMIM:268310 costovertebral segmentation defect with mesomelia, formerly OMIM:268310 MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym RODRIGUES blindness RODRIGUES blindness rodrigues blindness OMIM:268320 rodrigues blindness OMIM:268320 RODRIGUES blindness OMIM:268320 MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 rodrigues blindness OMIM:268320 microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:268400 poikiloderma atrophicans and cataract OMIM:618625 MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, pulmonary hypertension, and amino aciduria Growth retardation, pulmonary hypertension, and amino aciduria growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 rowley-rosenberg syndrome OMIM:268500 Growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 MONDO:0010004 EEC syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUDIGER syndrome RUDIGER syndrome rudiger syndrome OMIM:268650 rudiger syndrome OMIM:268650 RUDIGER syndrome OMIM:268650 -MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:268700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:268700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 2 OMIM:268700 saccharopinuria OMIM:268700 hyperlysinemia, type 2 OMIM:268700 MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, type 2 GM2-gangliosidosis, type 2 gm2-gangliosidosis, type 2 OMIM:268800 sandhoff disease OMIM:268800 GM2-gangliosidosis, type 2 OMIM:268800 @@ -4711,7 +4431,6 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARDH defic MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym hypersarcosinemia OMIM:268900 sarcosinemia OMIM:268900 hypersarcosinemia OMIM:268900 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency OMIM:268900 sarcosinemia OMIM:268900, Orphanet:3129 sarcosine dehydrogenase complex deficiency OMIM:268900 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268900, MONDO:Lexical SARCOS OMIM:268900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome Schinzel-Giedion midface retraction syndrome schinzel-giedion midface retraction syndrome OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 Schinzel-Giedion midface retraction syndrome OMIM:269150 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgs Sgs sgs OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 Sgs OMIM:269150 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym oio:hasRelatedSynonym APS 2 APS 2 aps 2 OMIM:269200 autoimmune polyendocrine syndrome, type 2 OMIM:269200 APS 2 OMIM:269200 @@ -4803,7 +4522,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile-onset OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 spinocerebellar ataxia, infantile-onset OMIM:271245 MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MTDPS7 OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271245, MONDO:Lexical MTDPS7 OMIM:271245 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 8 OMIM:608768 spinocerebellar ataxia 8 OMIM:271245 spinocerebellar ataxia 8 OMIM:608768 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with blindness and deafness OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 spinocerebellar ataxia with blindness and deafness OMIM:271250 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250, MONDO:Lexical spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with dysmorphism OMIM:271270 spinocerebellar ataxia with dysmorphism OMIM:271270 spinocerebellar ataxia with dysmorphism OMIM:271270 @@ -4884,7 +4602,6 @@ MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Male germ cell tumor Male germ cell tumor male germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:273300 Male germ cell tumor OMIM:273300 -MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETRAAMELIA syndrome, autosomal recessive TETRAAMELIA syndrome, autosomal recessive tetraamelia syndrome, autosomal recessive OMIM:273395 tetraamelia syndrome 1 MONDO:Lexical, OMIM:273395 TETRAAMELIA syndrome, autosomal recessive OMIM:273395 MONDO:0010114 thanatophoric dysplasia, Glasgow variant oio:hasExactSynonym oio:hasRelatedSynonym neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, glasgow type OMIM:273680 thanatophoric dysplasia, glasgow variant OMIM:273680 neonatally lethal short-limb skeletal dysplasia, Glasgow type OMIM:273680 MONDO:0010116 thoracomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym 'thoraco-limb' dysplasia OMIM:273740 thoracomelic dysplasia OMIM:273740 'thoraco-limb' dysplasia OMIM:273740 MONDO:0010117 3M syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 OMIM:273750 3M syndrome OMIM:273750 @@ -4911,8 +4628,6 @@ MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency dpyd deficiency OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 Dpyd deficiency OMIM:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyrimidinemia, familial OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 pyrimidinemia, familial OMIM:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thymine-Uraciluria, hereditary thymine-Uraciluria, hereditary thymine-uraciluria, hereditary OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 thymine-Uraciluria, hereditary OMIM:274270 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 Gthr OMIM:188570 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 thyroid hormone unresponsiveness OMIM:188570 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 Gthr OMIM:274300 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Refetoff syndrome Refetoff syndrome refetoff syndrome OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300, GARD:0000301 Refetoff syndrome OMIM:274300 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 thyroid hormone unresponsiveness OMIM:274300 @@ -4929,14 +4644,12 @@ MONDO:0010139 isolated thyroid-stimulating hormone deficiency oio:hasExactSynony MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym TRH deficiency TRH deficiency trh deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 TRH deficiency OMIM:275120 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 hypothalamic hypothyroidism OMIM:275120 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin-releasing hormone deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:275200 thyrotropin resistance OMIM:218700 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, Nonautoimmune hypothyroidism, Nonautoimmune hypothyroidism, nonautoimmune OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, Nonautoimmune OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to tsh resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, congenital, due to TSH resistance OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200, MONDO:Lexical hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyroid-stimulating hormone, resistance to OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 thyroid-stimulating hormone, resistance to OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 thyrotropin resistance OMIM:275200 -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:275200 thyrotropin resistance OMIM:609893 MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym Thm Thm thm OMIM:275220 tibial hemimelia OMIM:275220 Thm OMIM:275220 MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence of OMIM:275220 tibial hemimelia OMIM:275220 tibia, absence of OMIM:275220 MONDO:0010146 Kerion celsi oio:hasExactSynonym oio:hasRelatedSynonym TINEA imbricata, susceptibility to TINEA imbricata, susceptibility to tinea imbricata, susceptibility to OMIM:275240 tinea imbricata, susceptibility to OMIM:275240 TINEA imbricata, susceptibility to OMIM:275240 @@ -4963,7 +4676,6 @@ MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelat MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turcot syndrome Turcot syndrome turcot syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 Turcot syndrome OMIM:276300 MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym childhood cancer syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 childhood cancer syndrome OMIM:276300 MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair deficiency OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 mismatch repair deficiency OMIM:276300 -MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair cancer syndrome mismatch repair cancer syndrome Mismatch repair cancer syndrome OMIMPS:276300 Mismatch repair cancer syndrome OMIM:276300, MONDO:Lexical mismatch repair cancer syndrome OMIMPS:276300 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Oregon type tyrosinemia Oregon type tyrosinemia oregon type tyrosinemia OMIM:276600 tyrosinemia, type 2 OMIM:276600 Oregon type tyrosinemia OMIM:276600 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tat deficiency Tat deficiency tat deficiency OMIM:276600 tyrosinemia, type 2 OMIM:276600 Tat deficiency OMIM:276600 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tyrosinosis, oculocutaneous type Tyrosinosis, oculocutaneous type tyrosinosis, oculocutaneous type OMIM:276600 tyrosinemia, type 2 OMIM:276600 Tyrosinosis, oculocutaneous type OMIM:276600 @@ -5010,7 +4722,6 @@ MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelated MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of OMIM:277180 vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 vas deferens, congenital bilateral aplasia of OMIM:277180 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD CAVD cavd OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD OMIM:277180 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical CBAVD OMIM:277180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of vas deferens, congenital bilateral aplasia of Vas deferens, congenital bilateral aplasia of OMIMPS:277180 Vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 vas deferens, congenital bilateral aplasia of OMIMPS:277180 MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Irvh Irvh irvh OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 Irvh OMIM:277200 MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym right ventricular hypoplasia, isolated OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 MONDO:0010181 oculogastrointestinal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia OMIM:277320 intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 @@ -5073,8 +4784,6 @@ MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 mesodermal Dysmorphodystrophy, congenital OMIM:277600 MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 spherophakia-brachymorphia syndrome OMIM:277600 MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WMS1 OMIM:277600 weill-marchesani syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:277600 WMS1 OMIM:277600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 mesodermal Dysmorphodystrophy, congenital OMIM:608328 -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 spherophakia-brachymorphia syndrome OMIM:608328 MONDO:0010196 Werner syndrome oio:hasExactSynonym oio:hasRelatedSynonym WRN OMIM:277700 werner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277700, MONDO:Lexical WRN OMIM:277700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-induced encephalopathy OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 alcohol-induced encephalopathy OMIM:277730 MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym transketolase defect OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 transketolase defect OMIM:277730 @@ -5208,7 +4917,6 @@ MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym o MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 7 mental retardation, X-linked, syndromic 7 mental retardation, x-linked, syndromic 7 OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300218, MONDO:Lexical mental retardation, X-linked, syndromic 7 OMIM:300218 MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy with abnormal genital development OMIM:300219 myotubular myopathy with abnormal genital development OMIM:300219 myotubular myopathy with abnormal genital development OMIM:300219 MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease, X-linked Pseudoautosomal Hodgkin disease, X-linked Pseudoautosomal hodgkin disease, X-linked pseudoautosomal OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal OMIM:300221 Hodgkin disease, X-linked Pseudoautosomal OMIM:300221 -MONDO:0010274 testicular germ cell tumor 1 oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:genemap2, OMIM:300228 testicular germ cell tumor OMIM:273300 MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, X-linked, with mental deterioration SEMD, X-linked, with mental deterioration semd, x-linked, with mental deterioration OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy OMIM:300232 SEMD, X-linked, with mental deterioration OMIM:300232 MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy MONDO:Lexical, OMIM:300660 leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Shashi type mental retardation, X-linked, Shashi type mental retardation, x-linked, shashi type OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300238 mental retardation, X-linked, Shashi type OMIM:300238 @@ -5240,9 +4948,6 @@ MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oi MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome uruguay faciocardiomusculoskeletal syndrome OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome OMIM:300280 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, uruguay type OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 faciocardiomusculoskeletal syndrome, Uruguay type OMIM:300280 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCMSU OMIM:300280 uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300280 FCMSU OMIM:300280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym Xln Xln xln OMIM:300299 neutropenia, severe congenital, X-linked OMIM:300299 Xln OMIM:300299 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym neutropenia, severe congenital, X-linked OMIM:300299 neutropenia, severe congenital, X-linked MONDO:Lexical, OMIM:300299 neutropenia, severe congenital, X-linked OMIM:300299 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym SCNX OMIM:300299 neutropenia, severe congenital, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300299, MONDO:Lexical SCNX OMIM:300299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5375,8 +5080,6 @@ MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym marke MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation and macroorchidism OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 X-linked mental retardation and macroorchidism OMIM:300624 MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 mental retardation syndrome OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 fragile 10 mental retardation syndrome OMIM:300624 MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, associated with Marxq28 mental retardation, X-linked, associated with Marxq28 mental retardation, x-linked, associated with marxq28 OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 mental retardation, X-linked, associated with Marxq28 OMIM:300624 -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 premature ovarian failure OMIM:311360 premature ovarian failure 1 OMIM:300624 fragile 10 premature ovarian failure OMIM:311360 -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile x-associated OMIM:311360 premature ovarian failure 1 OMIM:300624 primary ovarian insufficiency, fragile X-associated OMIM:311360 MONDO:0010384 hypospadias 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HYSP1 OMIM:300633 hypospadias 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300633 HYSP1 OMIM:300633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym Xiap deficiency Xiap deficiency xiap deficiency OMIM:300635 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 Xiap deficiency OMIM:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 lymphoproliferative syndrome, x-linked, 2 MONDO:Lexical, OMIM:300635, GARD:0010916 lymphoproliferative syndrome, X-linked, 2 OMIM:300635 @@ -5402,7 +5105,6 @@ MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oi MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal myopathy, X-linked dominant OMIM:300695 scapuloperoneal myopathy, X-linked dominant OMIM:300695, MONDO:Lexical scapuloperoneal myopathy, X-linked dominant OMIM:300695 MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym SPM OMIM:300695 scapuloperoneal myopathy, X-linked dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300695 SPM OMIM:300695 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, X-linked, with postural muscle atrophy myopathy, X-linked, with postural muscle atrophy myopathy, x-linked, with postural muscle atrophy OMIM:300696 myopathy, x-linked, with postural muscle atrophy OMIM:300696, MONDO:Lexical myopathy, X-linked, with postural muscle atrophy OMIM:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:300696, OMIM:genemap2 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 29 mental retardation, X-linked, syndromic 29 mental retardation, x-linked, syndromic 29 OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699 mental retardation, X-linked, syndromic 29 OMIM:300699 MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym MRXSW OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699, MONDO:Lexical MRXSW OMIM:300699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSynonym albinism-deafness syndrome OMIM:300700 albinism-deafness syndrome OMIM:300700, OMIM:genemap2, MONDO:Lexical albinism-deafness syndrome OMIM:300700 @@ -5433,7 +5135,6 @@ MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:has MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752, MONDO:Lexical protoporphyria, erythropoietic, X-linked OMIM:300752 MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked dominant OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752 protoporphyria, erythropoietic, X-linked dominant OMIM:300752 MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLEPP OMIM:300752 protoporphyria, erythropoietic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300752 XLEPP OMIM:300752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP XLP xlp OMIM:308240 lymphoproliferative syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 XLP OMIM:308240 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked OMIM:300755 agammaglobulinemia, X-linked MONDO:Lexical, OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked, type 1 agammaglobulinemia, X-linked, type 1 agammaglobulinemia, x-linked, type 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 agammaglobulinemia, X-linked, type 1 OMIM:300755 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 immunodeficiency 1 OMIM:300755 @@ -5556,7 +5257,6 @@ MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:ha MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-thalassemia/mental retardation syndrome, X-linked ALPHA-thalassemia/mental retardation syndrome, X-linked alpha-thalassemia/mental retardation syndrome, X-linked OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 ALPHA-thalassemia/mental retardation syndrome, X-linked OMIM:301040 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, Nondeletion type Alpha-thalassemia/mental retardation syndrome, Nondeletion type alpha-thalassemia/mental retardation syndrome, nondeletion type OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:301040 Alpha-thalassemia/mental retardation syndrome, Nondeletion type OMIM:301040 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATRX OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 ATRX OMIM:301040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS OMIM:208050 MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS OMIM:301050 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, X-linked 1 OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 amelogenesis imperfecta, X-linked 1 OMIM:301200 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with snow-capped teeth OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth OMIM:301200 @@ -5623,7 +5323,6 @@ MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRe MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, brachytelephalangic OMIM:302950 chondrodysplasia punctata 1, X-linked recessive GARD:0001296 chondrodysplasia punctata, brachytelephalangic OMIM:302950 MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CPXR CPXR cpxr OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001296 CPXR OMIM:302950 MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CDPX1 OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0001296, OMIM:302950 CDPX1 OMIM:302950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:303100 choroidal sclerosis OMIM:215500 MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym Tapetochoroidal dystrophy, progressive Tapetochoroidal dystrophy, progressive tapetochoroidal dystrophy, progressive OMIM:303100 choroideremia OMIM:303100 Tapetochoroidal dystrophy, progressive OMIM:303100 MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq21 deletion syndrome chromosome Xq21 deletion syndrome chromosome xq21 deletion syndrome OMIM:303110 chromosome xq21 deletion syndrome OMIM:303110 chromosome Xq21 deletion syndrome OMIM:303110 MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroideremia, deafness, and mental retardation OMIM:303110 chromosome xq21 deletion syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:303110 choroideremia, deafness, and mental retardation OMIM:303110 @@ -5651,7 +5350,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 faciopalatoosseous syndrome OMIM:304120 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym otopalatodigital syndrome, type 2 OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 OMIM:304120 otopalatodigital syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 OPD2 OMIM:304120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical OHS OMIM:185000 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS IX, formerly EDS IX, formerly eds ix, formerly OMIM:304150 occipital horn syndrome OMIM:304150 EDS IX, formerly OMIM:304150 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS9, formerly EDS9, formerly eds9, formerly OMIM:304150 occipital horn syndrome OMIM:304150 EDS9, formerly OMIM:304150 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, occipital horn type, formerly Ehlers-Danlos syndrome, occipital horn type, formerly ehlers-danlos syndrome, occipital horn type, formerly OMIM:304150 occipital horn syndrome OMIM:304150 Ehlers-Danlos syndrome, occipital horn type, formerly OMIM:304150 @@ -5701,7 +5399,6 @@ MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:ha MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Fevr, X-linked Fevr, X-linked fevr, X-linked OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 Fevr, X-linked OMIM:305390 MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym exudative vitreoretinopathy, familial, 2 OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 exudative vitreoretinopathy, familial, 2 OMIM:305390 MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 OMIM:305390 exudative vitreoretinopathy 2, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical EVR2 OMIM:305390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-like syndrome Aarskog-like syndrome aarskog-like syndrome OMIM:227330 faciodigitogenital syndrome, autosomal recessive MESH:C535331 Aarskog-like syndrome OMIM:227330 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome OMIM:305400, MESH:C535331, MONDO:Lexical Aarskog-Scott syndrome OMIM:305400 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome OMIM:305400 aarskog-scott syndrome MESH:C535331, OMIM:305400, Orphanet:915 faciodigitogenital syndrome OMIM:305400 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome Orphanet:915, MESH:C535331, OMIM:305400 faciogenital dysplasia OMIM:305400 @@ -5711,10 +5408,8 @@ MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Keller syn MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome MONDO:Lexical, OMIM:305450 Opitz-Kaveggia syndrome OMIM:305450 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:305450 mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OKS OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305450, MONDO:Lexical OKS OMIM:305450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome OMIMPS:305450 FG syndrome OMIM:305450 FG syndrome OMIMPS:305450 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Fodh Fodh fodh OMIM:305600 focal dermal hypoplasia OMIM:305600 Fodh OMIM:305600 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH OMIM:615999 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Mesangiocapillary glomerulonephritis, X-linked Mesangiocapillary glomerulonephritis, X-linked mesangiocapillary glomerulonephritis, X-linked OMIM:305800 membranoproliferative glomerulonephritis, X-linked OMIM:305800 Mesangiocapillary glomerulonephritis, X-linked OMIM:305800 MONDO:0010597 glutamyl ribose-5-phosphate storage disease oio:hasExactSynonym oio:hasRelatedSynonym ADP-ribose Protein hydrolase deficiency ADP-ribose Protein hydrolase deficiency adp-ribose protein hydrolase deficiency OMIM:305920 glutamyl ribose-5-phosphate storage disease OMIM:305920 ADP-ribose Protein hydrolase deficiency OMIM:305920 MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym oio:hasRelatedSynonym GSD VIII, formerly GSD VIII, formerly gsd viii, formerly OMIM:306000 glycogen storage disease ixa1 OMIM:306000 GSD VIII, formerly OMIM:306000 @@ -5735,7 +5430,6 @@ MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelat MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HTX1 OMIM:306955 heterotaxy, visceral, 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:306955, MONDO:Lexical HTX1 OMIM:306955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010608 Hhhh syndrome oio:hasExactSynonym oio:hasRelatedSynonym hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 hhhh syndrome OMIM:306960 hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 microhydranencephaly, X-linked OMIM:306990 holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000, MONDO:Lexical hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym aqueductal stenosis, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 aqueductal stenosis, X-linked OMIM:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000, MONDO:Lexical hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 hydrocephalus, X-linked OMIM:307000 @@ -5746,7 +5440,6 @@ MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelat MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GK1 deficiency GK1 deficiency gk1 deficiency OMIM:307030 glycerol kinase deficiency OMIM:307030 GK1 deficiency OMIM:307030 MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia OMIM:307030 glycerol kinase deficiency OMIM:307030 hyperglycerolemia OMIM:307030 MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GKD OMIM:307030 glycerol kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307030 GKD OMIM:307030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, congenital generalized OMIM:145701 hypertrichosis universalis congenita, ambras type MONDO:Lexical, OMIM:307150 hypertrichosis, congenital generalized OMIM:145701 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym Cgh Cgh cgh OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 Cgh OMIM:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 Interchromosomal insertion syndrome chromosome Xq27.1 Interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 chromosome Xq27.1 Interchromosomal insertion syndrome OMIM:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 interchromosomal insertion syndrome chromosome Xq27.1 interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 GARD:0002863 chromosome Xq27.1 interchromosomal insertion syndrome OMIM:307150 @@ -5797,8 +5490,6 @@ MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactS MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX Kfsdx KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536159 KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308800, MONDO:Lexical KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis OMIM:150260 laryngeal abductor paralysis OMIM:308850 laryngeal abductor paralysis OMIM:150260 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:308850 vocal cord dysfunction, familial OMIM:150260 MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:308850 vocal cord dysfunction, familial OMIM:308850 MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Leber hereditary optic neuropathy, modifier of Leber hereditary optic neuropathy, modifier of leber hereditary optic neuropathy, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 Leber hereditary optic neuropathy, modifier of OMIM:308905 MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Lhon, modifier of Lhon, modifier of lhon, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 Lhon, modifier of OMIM:308905 @@ -5810,18 +5501,10 @@ MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome oio:hasExactSynony MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ocrl1 Ocrl1 ocrl1 OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 Ocrl1 OMIM:309000 MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 OMIM:309120 spermatogenic failure, x-linked, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical SPGFX2 OMIM:309120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:309200 bipolar affective disorder OMIM:125480 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 2 MAJOR affective disorder 2 major affective disorder 2 OMIM:309200 major affective disorder 2 OMIM:309200 MAJOR affective disorder 2 OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:309200 bipolar affective disorder OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive illness OMIM:309200 major affective disorder 2 OMIM:309200 manic-depressive illness OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, X-linked OMIM:309200 major affective disorder 2 OMIM:309200 manic-depressive psychosis, X-linked OMIM:309200 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:309200 bipolar affective disorder OMIM:611247 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:309200 bipolar affective disorder OMIM:611535 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:309200 bipolar affective disorder OMIM:611536 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:309200 bipolar affective disorder OMIM:612357 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:309200 bipolar affective disorder OMIM:612371 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:309200 bipolar affective disorder OMIM:612372 -MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:249300 megalocornea MONDO:Lexical, OMIM:309300 megalocornea OMIM:249300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym Mgcn Mgcn mgcn OMIM:309300 megalocornea OMIM:309300 Mgcn OMIM:309300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:309300 megalocornea MONDO:Lexical, OMIM:309300 megalocornea OMIM:309300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym MGC1 OMIM:309300 megalocornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309300, MONDO:Lexical MGC1 OMIM:309300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5854,8 +5537,6 @@ MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExa MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with optic atrophy, deafness, and seizures OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309555 mental retardation with optic atrophy, deafness, and seizures OMIM:309555 MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, x-linked, 1 OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580, MONDO:Lexical mental retardation-hypotonic facies syndrome, X-linked, 1 OMIM:309580 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasNarrowSynonym Juberg-Marsidi syndrome Juberg-Marsidi syndrome juberg-marsidi syndrome OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type OMIM:309580 Juberg-Marsidi syndrome OMIM:309590 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, x-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580 mental retardation, X-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, x-linked, syndromic, snyder-robinson type OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 mental retardation, X-linked, syndromic, Snyder-Robinson type OMIM:309583 MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym MRXSSR OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 MRXSSR OMIM:309583 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010665 Wilson-Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilson-TURNER X-linked mental retardation syndrome Wilson-TURNER X-linked mental retardation syndrome wilson-turner X-linked mental retardation syndrome OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309585, MONDO:Lexical Wilson-TURNER X-linked mental retardation syndrome OMIM:309585 @@ -5867,8 +5548,6 @@ MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSy MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion OMIM:309630 metacarpal 4-5 fusion OMIM:309630, MONDO:Lexical metacarpal 4-5 fusion OMIM:309630 MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym MF4 OMIM:309630 metacarpal 4-5 fusion http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309630 MF4 OMIM:309630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia OMIM:309640 mental retardation with spastic paraplegia http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309640 mental retardation with spastic paraplegia OMIM:309640 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical linear skin defects with multiple congenital anomalies 1 OMIM:309801 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym LSDMCA1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309801 LSDMCA1 OMIM:309801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym oio:hasRelatedSynonym Tourette syndrome, modifier of Tourette syndrome, modifier of tourette syndrome, modifier of OMIM:309840 modifier, x-linked, for neurofunctional defects OMIM:309840 Tourette syndrome, modifier of OMIM:309840 MONDO:0010678 muscular dystrophy, progressive Pectorodorsal oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 muscular dystrophy, progressive pectorodorsal OMIM:310095 muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Duchenne type muscular dystrophy, Duchenne type muscular dystrophy, duchenne type OMIM:310200 muscular dystrophy, duchenne type MONDO:Lexical, OMIM:310200 muscular dystrophy, Duchenne type OMIM:310200 @@ -5931,7 +5610,6 @@ MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency Orphanet:79243 pyruvate decarboxylase deficiency OMIM:312170 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency OMIM:312170 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase E1-ALPHA deficiency OMIM:312170 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency OMIMPS:312170 MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia and anogenital anomalies OMIM:312190 radial aplasia, X-linked OMIM:312190 radial aplasia and anogenital anomalies OMIM:312190 MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia, X-linked OMIM:312190 radial aplasia, X-linked OMIM:312190 radial aplasia, X-linked OMIM:312190 MONDO:0010719 radiation sensitivity of natural killer activity oio:hasExactSynonym oio:hasRelatedSynonym X-Ray Nk sensitivity X-Ray Nk sensitivity x-ray nk sensitivity OMIM:312210 radiation sensitivity of natural killer activity OMIM:312210 X-Ray Nk sensitivity OMIM:312210 @@ -5942,7 +5620,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym R MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym XLRS1 XLRS1 xlrs1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700 XLRS1 OMIM:312700 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym RS1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700, MONDO:Lexical RS1 OMIM:312700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym oio:hasRelatedSynonym autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 rett syndrome OMIM:312750 autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 -MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome OMIM:312780 Partington syndrome OMIM:309510 MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 Partington syndrome OMIM:312780 MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Russell-Silver-like syndrome with skin pigmentation Russell-Silver-like syndrome with skin pigmentation russell-silver-like syndrome with skin pigmentation OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 Russell-Silver-like syndrome with skin pigmentation OMIM:312780 MONDO:0010728 SCARF syndrome oio:hasExactSynonym oio:hasRelatedSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities OMIM:312830 scarf syndrome OMIM:312830 skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities OMIM:312830 @@ -5982,7 +5659,6 @@ MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC T MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC1 OMIM:313900 thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:313900 THC1 OMIM:313900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked MONDO:Lexical, OMIM:314050 thrombocytopenia with BETA-thalassemia, X-linked OMIM:314050 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis OMIM:314050 -MONDO:0010746 thumbs, congenital Clasped oio:hasExactSynonym oio:hasRelatedSynonym adducted thumbs syndrome OMIM:201550 adducted thumbs syndrome OMIM:314100 adducted thumbs syndrome OMIM:201550 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia 3, torsion, X-linked OMIM:314250 dystonia 3, torsion, X-linked MONDO:Lexical, OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia-Parkinsonism, X-linked dystonia-Parkinsonism, X-linked dystonia-parkinsonism, X-linked OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 dystonia-Parkinsonism, X-linked OMIM:314250 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia-Parkinsonism, Filipino type torsion dystonia-Parkinsonism, Filipino type torsion dystonia-parkinsonism, filipino type OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 torsion dystonia-Parkinsonism, Filipino type OMIM:314250 @@ -6093,7 +5769,6 @@ MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynon MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym Parkinsonism, early-onset, with diurnal fluctuation Parkinsonism, early-onset, with diurnal fluctuation parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 parkinson disease 2, autosomal recessive juvenile OMIM:600116 Parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym PARK2 OMIM:600116 parkinson disease 2, autosomal recessive juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600116, MONDO:Lexical PARK2 OMIM:600116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym dysphasia, familial developmental OMIM:600117 dysphasia, familial developmental OMIM:600117 dysphasia, familial developmental OMIM:600117 -MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym specific language impairment specific language impairment Specific language impairment OMIMPS:606711 Specific language impairment GARD:0001823 specific language impairment OMIMPS:606711 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 warburg micro syndrome 1 OMIM:600118 warburg micro syndrome 1 OMIM:600118 WARBURG micro syndrome 1 OMIM:600118 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 OMIM:600118 micro syndrome OMIM:600118 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency AGPS deficiency agps deficiency OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 DOID:0110853 AGPS deficiency OMIM:600121 @@ -6228,8 +5903,6 @@ MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynony MONDO:0010917 chondrocalcinosis 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrocalcinosis with early-onset osteoarthritis OMIM:600668 chondrocalcinosis 1 OMIM:600668 chondrocalcinosis with early-onset osteoarthritis OMIM:600668 MONDO:0010921 nasal dermoid cyst oio:hasExactSynonym oio:hasRelatedSynonym dermoid cysts, familial frontonasal OMIM:600679 dermoid cysts, familial frontonasal OMIM:600679 dermoid cysts, familial frontonasal OMIM:600679 MONDO:0010922 Satoyoshi syndrome oio:hasExactSynonym oio:hasRelatedSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 satoyoshi syndrome OMIM:600705 muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 1 d-2-hydroxyglutaric aciduria 1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical D-2-hydroxyglutaric aciduria 1 OMIM:600721 -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D2HGA D2HGA d2hga OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600721 D2HGA OMIM:600721 MONDO:0010925 velo-facial-skeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym VELOFACIOSKELETAL syndrome VELOFACIOSKELETAL syndrome velofacioskeletal syndrome OMIM:600736 velofacioskeletal syndrome OMIM:600736 VELOFACIOSKELETAL syndrome OMIM:600736 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypercalcemia, type 3 OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 familial benign hypercalcemia, type 3 OMIM:600740 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, oklahoma type OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 hypercalcemia, familial benign, Oklahoma type OMIM:600740 @@ -6279,7 +5952,6 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010960 protocadherin 3 oio:hasExactSynonym oio:hasRelatedSynonym Pcdh3 Pcdh3 pcdh3 OMIM:600931 protocadherin 3 OMIM:600931 Pcdh3 OMIM:600931 MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym proprotein convertase 1/3 deficiency OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:600962, DOID:0050428 tylosis OMIM:144200 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym keratoderma, nonepidermolytic palmoplantar OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962 keratoderma, nonepidermolytic palmoplantar OMIM:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962, DOID:0050428 tylosis OMIM:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym PPKNE PPKNE ppkne OMIM:600962 palmoplantar keratoderma, nonepidermolytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600962 PPKNE OMIM:600962 @@ -6310,8 +5982,6 @@ MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynonym NPHS2 OMIM:600995 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600995, MONDO:Lexical NPHS2 OMIM:600995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010977 Brody myopathy oio:hasExactSynonym oio:hasRelatedSynonym Brody disease Brody disease brody disease OMIM:601003 brody disease GARD:0009158 Brody disease OMIM:601003 MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome with syndactyly long QT syndrome with syndactyly long qt syndrome with syndactyly OMIM:601005 timothy syndrome OMIM:601005 long QT syndrome with syndactyly OMIM:601005 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 long QT syndrome 8 long qt syndrome 8 OMIM:618447 long qt syndrome 8 OMIM:601005 long QT syndrome 8 OMIM:618447 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 OMIM:618447 long qt syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 OMIM:618447 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym Dincsoy syndrome Dincsoy syndrome dincsoy syndrome OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism OMIM:601016 Dincsoy syndrome OMIM:601016 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies OMIM:601027 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies GARD:0005210 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 @@ -6395,7 +6065,6 @@ MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome oio:hasExactSynonym o MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome MONDO:Lexical, OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym OOCH OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601220, MONDO:Lexical OOCH OMIM:601220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 PSS OMIM:270300 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Defect11 syndrome Defect11 syndrome defect11 syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 Defect11 syndrome OMIM:601224 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P11.2 deletion syndrome chromosome 11P11.2 deletion syndrome chromosome 11p11.2 deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 chromosome 11P11.2 deletion syndrome OMIM:601224 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome proximal 11p deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 proximal 11P deletion syndrome OMIM:601224 @@ -6438,7 +6107,6 @@ MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome oio:hasE MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial AMELIA, cleft LIP, and holoprosencephaly brachial AMELIA, cleft LIP, and holoprosencephaly brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly MONDO:Lexical, OMIM:601357 brachial AMELIA, cleft LIP, and holoprosencephaly OMIM:601357 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and facial clefts OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 brachial amelia, forebrain defects, and Facial clefts OMIM:601357 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym ACLH OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601357 ACLH OMIM:601357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome OMIM:601358 NBs OMIM:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome nicolaides-baraitser syndrome OMIM:601358 nicolaides-baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome OMIM:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NCBRS OMIM:601358 nicolaides-baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358, MONDO:Lexical NCBRS OMIM:601358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6499,7 +6167,6 @@ MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelat MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type iia, formerly OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel OMIM:601462 myasthenic syndrome, congenital, type IIa, formerly OMIM:601462 MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym portosystemic Venous shunt, congenital portosystemic Venous shunt, congenital portosystemic venous shunt, congenital OMIM:601466 patent ductus venosus OMIM:601466 portosystemic Venous shunt, congenital OMIM:601466 MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym PDV OMIM:601466 patent ductus venosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601466, MONDO:Lexical PDV OMIM:601466 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial palsy, congenital, unilateral or bilateral OMIM:601471 facial paresis, hereditary congenital, 1 OMIM:601471 facial palsy, congenital, unilateral or bilateral OMIM:601471 MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, hereditary congenital facial paresis, hereditary congenital Facial paresis, hereditary congenital OMIMPS:601471 Facial paresis, hereditary congenital OMIMPS:601471 facial paresis, hereditary congenital OMIMPS:601471 MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2D Charcot-Marie-Tooth disease, axonal, type 2D charcot-marie-tooth disease, axonal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d MONDO:Lexical, GARD:0001251, OMIM:601472 Charcot-Marie-Tooth disease, axonal, type 2D OMIM:601472 MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, neuronal, type 2D Charcot-Marie-Tooth disease, neuronal, type 2D charcot-marie-tooth disease, neuronal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d OMIM:601472 Charcot-Marie-Tooth disease, neuronal, type 2D OMIM:601472 @@ -6546,7 +6213,6 @@ MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSy MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym LACHT OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601612, MONDO:Lexical LACHT OMIM:601612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 cysts of iris pigment epithelium OMIM:601616 MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym ruffles and cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 ruffles and cysts of iris pigment epithelium OMIM:601616 -MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym neural tube defects, susceptibility to OMIM:182940 neural tube defects, susceptibility to OMIM:genemap2, OMIM:601634 neural tube defects, susceptibility to OMIM:182940 MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTD, folate-sensitive NTD, folate-sensitive ntd, folate-sensitive OMIM:601634 neural tube defects, folate-sensitive OMIM:601634 NTD, folate-sensitive OMIM:601634 MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTDFS OMIM:601634 neural tube defects, folate-sensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601634 NTDFS OMIM:601634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011121 paragangliomas 2 oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, familial, 2 OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 OMIM:601650 glomus tumors, familial, 2 OMIM:601650 @@ -6579,9 +6245,6 @@ MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelate MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym PENTT OMIM:601812 premature aging syndrome, penttinen type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601812, MONDO:Lexical PENTT OMIM:601812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 OMIM:601813 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical EVR4 OMIM:601813 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011152 PHGDH deficiency oio:hasExactSynonym oio:hasRelatedSynonym PHGDHD OMIM:601815 phosphoglycerate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601815 PHGDHD OMIM:601815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 hyperinsulinism, congenital OMIM:256450 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, persistent OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinemic hypoglycemia, persistent OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinism, congenital OMIM:601820 @@ -6590,7 +6253,6 @@ MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 nesidioblastosis OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical HHF2 OMIM:601820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011155 vacuolar Neuromyopathy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM:601846 muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 2 OMIM:601847 cholestasis, progressive familial intrahepatic, 2 MONDO:Lexical, OMIM:601847 cholestasis, progressive familial intrahepatic, 2 OMIM:601847 MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cerebellotrigeminal dermal dysplasia Cerebellotrigeminal dermal dysplasia cerebellotrigeminal dermal dysplasia OMIM:601853 gomez-lopez-hernandez syndrome GARD:0000229 Cerebellotrigeminal dermal dysplasia OMIM:601853 MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym GOMEZ-LOPEZ-HERNANDEZ syndrome GOMEZ-LOPEZ-HERNANDEZ syndrome gomez-lopez-hernandez syndrome OMIM:601853 gomez-lopez-hernandez syndrome OMIM:601853 GOMEZ-LOPEZ-HERNANDEZ syndrome OMIM:601853 @@ -6711,7 +6373,6 @@ MONDO:0011229 ethylmalonic encephalopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0011230 ossification of the posterior longitudinal ligament of the spine oio:hasExactSynonym oio:hasRelatedSynonym ossification of the POSTERIOR longitudinal ligament of spine ossification of the POSTERIOR longitudinal ligament of spine ossification of the posterior longitudinal ligament of spine OMIM:602475 ossification of the posterior longitudinal ligament of spine MONDO:Lexical, OMIM:602475 ossification of the POSTERIOR longitudinal ligament of spine OMIM:602475 MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mhp2 Mhp2 mhp2 OMIM:602481 migraine, familial hemiplegic, 2 OMIM:602481 Mhp2 OMIM:602481 MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FHM2 OMIM:602481 migraine, familial hemiplegic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602481, MONDO:Lexical FHM2 OMIM:602481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 DOID:0110122, OMIM:602482 anterior segment mesenchymal dysgenesis OMIM:107250 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss OMIM:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 3 Axenfeld-Rieger syndrome, type 3 axenfeld-rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482, MONDO:Lexical Axenfeld-Rieger syndrome, type 3 OMIM:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Rieger syndrome, type 3 Rieger syndrome, type 3 rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 Rieger syndrome, type 3 OMIM:602482 @@ -6799,7 +6460,6 @@ MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:has MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS1 OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603041, MONDO:Lexical MTDPS1 OMIM:603041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 MONDO:Lexical, OMIM:603075 macular degeneration, age-related, 1 OMIM:603075 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym maculopathy, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 OMIM:603075 maculopathy, age-related, 1 OMIM:603075 -MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasBroadSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related OMIM:603075, OMIM:genemap2 macular degeneration, age-related OMIMPS:603075 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 13 OMIM:603098 deafness, autosomal recessive 13 MONDO:Lexical, OMIM:603098, OMIM:genemap2 deafness, autosomal recessive 13 OMIM:603098 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNB13 OMIM:603098 deafness, autosomal recessive 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110468, MONDO:Lexical, OMIM:603098 DFNB13 OMIM:603098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 cdags syndrome OMIM:603116 craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 @@ -6894,15 +6554,6 @@ MONDO:0011384 hypertension, essential, susceptibility to, 1 oio:hasExactSynonym MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MVCD1 OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603933, MONDO:Lexical MVCD1 OMIM:603933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 end-stage renal disease, diabetic, susceptibility to OMIM:612623 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 end-stage renal disease, diabetic, susceptibility to OMIM:612624 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612635 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 16 OMIM:603964 deafness, autosomal dominant 16 OMIM:genemap2, MONDO:Lexical, OMIM:603964 deafness, autosomal dominant 16 OMIM:603964 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 OMIM:603964 deafness, autosomal dominant 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 DFNA16 OMIM:603964 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011390 focal segmental glomerulosclerosis 2 oio:hasExactSynonym oio:hasRelatedSynonym glomerulosclerosis, focal segmental, 2 OMIM:603965 focal segmental glomerulosclerosis 2 OMIM:603965 glomerulosclerosis, focal segmental, 2 OMIM:603965 @@ -6911,7 +6562,6 @@ MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynon MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym HDL cholesterol, Low serum HDL cholesterol, Low serum hdl cholesterol, low serum OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 HDL cholesterol, Low serum OMIM:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial HDL deficiency familial HDL deficiency familial hdl deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 GARD:0002872, OMIM:604091 familial HDL deficiency OMIM:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 high density lipoprotein deficiency OMIM:604091 -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:604091 high density lipoprotein deficiency OMIM:618463 MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym Vohwinkel syndrome, variant form Vohwinkel syndrome, variant form vohwinkel syndrome, variant form OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 Vohwinkel syndrome, variant form OMIM:604117 MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym mutilating keratoderma with ichthyosis OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 mutilating keratoderma with ichthyosis OMIM:604117 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:Lexical, OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 @@ -6991,9 +6641,6 @@ MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotric MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis, total, Mari type hypotrichosis, total, Mari type hypotrichosis, total, mari type OMIM:604379 hypotrichosis 7 OMIM:604379 hypotrichosis, total, Mari type OMIM:604379 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym Nph3 Nph3 nph3 OMIM:604387 nephronophthisis 3 OMIM:604387 Nph3 OMIM:604387 -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ataxia-telangiectasia-like disorder 1 OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391, MONDO:Lexical ataxia-telangiectasia-like disorder 1 OMIM:604391 -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604391 ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:genemap2, OMIM:604393 cone-rod dystrophy OMIM:120970 MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 OMIM:604403 generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 GEFSP2 OMIM:604403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7014,8 +6661,6 @@ MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:h MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block, type 1B progressive familial heart block, type 1B progressive familial heart block, type 1b OMIM:604559 progressive familial heart block, type 1b OMIM:604559 progressive familial heart block, type 1B OMIM:604559 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 OMIM:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 4B2 Charcot-Marie-Tooth neuropathy, type 4B2 charcot-marie-tooth neuropathy, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 Charcot-Marie-Tooth neuropathy, type 4B2 OMIM:604563 -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 1 Bare lymphocyte syndrome, type 1 bare lymphocyte syndrome, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 Bare lymphocyte syndrome, type 1 OMIM:604571 -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 1 Bls, type 1 bls, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 Bls, type 1 OMIM:604571 MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym hypodontia/oligodontia 3 OMIM:604625 tooth agenesis, selective, 3 OMIM:604625 hypodontia/oligodontia 3 OMIM:604625 MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym STHAG3 OMIM:604625 tooth agenesis, selective, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604625, MONDO:Lexical STHAG3 OMIM:604625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia oio:hasExactSynonym oio:hasRelatedSynonym Roca syndrome Roca syndrome roca syndrome OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia OMIM:604690 Roca syndrome OMIM:604690 @@ -7066,8 +6711,6 @@ MONDO:0011509 low density lipoprotein cholesterol, mild elevation of oio:hasExac MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome bohring-opitz syndrome OMIM:605039 bohring-opitz syndrome OMIM:605039 BOHRING-Opitz syndrome OMIM:605039 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOPS OMIM:605039 bohring-opitz syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605039 BOPS OMIM:605039 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia oio:hasExactSynonym oio:hasRelatedSynonym Chzam Chzam chzam OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia OMIM:605040 Chzam OMIM:605040 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:605041 Bss OMIM:209885 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605041 BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:605041 Bss OMIM:605041 MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Spiegler-Brooke syndrome Spiegler-Brooke syndrome spiegler-brooke syndrome OMIM:605041 brooke-spiegler syndrome OMIM:605041 Spiegler-Brooke syndrome OMIM:605041 MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7114,7 +6757,6 @@ MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym cataton MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15q15-related OMIM:605419 schizophrenia 10 OMIM:605419 schizophrenia susceptibility locus, chromosome 15Q15-related OMIM:605419 MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 26 OMIM:605428 deafness, autosomal recessive 26 MONDO:Lexical, OMIM:genemap2, OMIM:605428 deafness, autosomal recessive 26 OMIM:605428 MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym DFNB26 OMIM:605428 deafness, autosomal recessive 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605428, DOID:0110484, MONDO:Lexical DFNB26 OMIM:605428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUSAT RUSAT rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605432 RUSAT OMIM:605432 MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radioulnar synostosis with amegakaryocytic thrombocytopenia radioulnar synostosis with amegakaryocytic thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia MONDO:Lexical, OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 MONDO:0011558 Usher syndrome type 2C oio:hasExactSynonym oio:hasRelatedSynonym Usher syndrome, type 2C Usher syndrome, type 2C usher syndrome, type 2c OMIM:605472 usher syndrome, type 2c GARD:0008497 Usher syndrome, type 2C OMIM:605472 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 OMIM:605479, MONDO:Lexical cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 @@ -7197,7 +6839,6 @@ MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion b MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy, quadriceps-sparing OMIM:605820 nonaka myopathy OMIM:605820, GARD:0009493 inclusion body myopathy, quadriceps-sparing OMIM:605820 MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with or without rimmed vacuoles OMIM:605820 nonaka myopathy OMIM:605820 myopathy, distal, with or without rimmed vacuoles OMIM:605820 MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with rimmed vacuoles OMIM:617158 myopathy, distal, with rimmed vacuoles OMIM:605820 myopathy, distal, with rimmed vacuoles OMIM:617158 MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondyloocular syndrome OMIM:605822 spondyloocular syndrome MONDO:Lexical, OMIM:605822 spondyloocular syndrome OMIM:605822 MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOS OMIM:605822 spondyloocular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605822, MONDO:Lexical SOS OMIM:605822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011605 generalized basaloid follicular hamartoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:Lexical, OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 @@ -7206,8 +6847,6 @@ MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym oio:hasRelatedSynonym de MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym oio:hasRelatedSynonym dermatitis, ATOPIC, 6 dermatitis, ATOPIC, 6 dermatitis, atopic, 6 OMIM:605845 dermatitis, atopic, 6 OMIM:605845, MONDO:Lexical dermatitis, ATOPIC, 6 OMIM:605845 MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency dmgdh deficiency OMIM:605850 dimethylglycine dehydrogenase deficiency OMIM:605850 Dmgdh deficiency OMIM:605850 MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DMGDHD OMIM:605850 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605850 DMGDHD OMIM:605850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym hyperglycinemia, Nonketotic hyperglycinemia, Nonketotic hyperglycinemia, nonketotic OMIM:605899 glycine encephalopathy 1 OMIM:605899 hyperglycinemia, Nonketotic OMIM:605899 -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GCE GCE gce OMIM:605899 glycine encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605899 GCE OMIM:605899 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy OMIMPS:605899 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy OMIMPS:605899 MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, autosomal recessive early-onset Parkinson disease 6, autosomal recessive early-onset parkinson disease 6, autosomal recessive early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909, MONDO:Lexical Parkinson disease 6, autosomal recessive early-onset OMIM:605909 MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, early-onset Parkinson disease 6, early-onset parkinson disease 6, early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909 Parkinson disease 6, early-onset OMIM:605909 @@ -7262,7 +6901,6 @@ MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 oio:hasExactS MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and joint dislocations OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606220 mental retardation, short stature, facial anomalies, and JOINT dislocations OMIM:606220 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome chromosome 22q13.3 deletion syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 chromosome 22Q13.3 deletion syndrome OMIM:606232 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym telomeric 22Q13 monosomy syndrome telomeric 22Q13 monosomy syndrome telomeric 22q13 monosomy syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 telomeric 22Q13 monosomy syndrome OMIM:606232 -MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1 OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:606240 thyroid cancer, nonmedullary, 1 OMIM:188550 MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1, formerly OMIM:606240 thyroid cancer, nonmedullary, 3 OMIM:606240 thyroid cancer, nonmedullary, 1, formerly OMIM:606240 MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym Kondoh syndrome Kondoh syndrome kondoh syndrome OMIM:606242 kondoh syndrome OMIM:606242 Kondoh syndrome OMIM:606242 MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism OMIM:606242 kondoh syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606242 mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism OMIM:606242 @@ -7299,14 +6937,10 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate B Charcot-Marie-Tooth neuropathy, dominant Intermediate B charcot-marie-tooth neuropathy, dominant intermediate B OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Charcot-Marie-Tooth neuropathy, dominant Intermediate B OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Cmtdi1 Cmtdi1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Cmtdi1 OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Di-CMTB Di-CMTB di-cmtb OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Di-CMTB OMIM:606482 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate A Charcot-Marie-Tooth disease, dominant intermediate A charcot-marie-tooth disease, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a MONDO:Lexical, OMIM:606483 Charcot-Marie-Tooth disease, dominant intermediate A OMIM:620378 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate a Charcot-Marie-Tooth neuropathy, dominant Intermediate a charcot-marie-tooth neuropathy, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a OMIM:606483 Charcot-Marie-Tooth neuropathy, dominant Intermediate a OMIM:620378 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym PHACE association PHACE association phace association OMIM:606519 phace association OMIM:606519 PHACE association OMIM:606519 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phaces association Phaces association phaces association OMIM:606519 phace association OMIM:606519 Phaces association OMIM:606519 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, giant congenital OMIM:606519 phace association OMIM:606519 aortic aneurysm, giant congenital OMIM:606519 MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 homozygous 11p15-p14 deletion syndrome OMIM:606528 hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:606545 collodion baby, self-healing OMIM:242100 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:606545 collodion baby, self-healing OMIM:242300 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 collodion baby, self-healing OMIM:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 3 OMIM:606545 ichthyosis, congenital, autosomal recessive 3 MONDO:Lexical, OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 5, formerly OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 ichthyosis, lamellar, 5, formerly OMIM:606545 @@ -7364,11 +6998,9 @@ MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:has MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose Transport defect, blood-brain barrier glucose Transport defect, blood-brain barrier glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 OMIM:606777 glucose Transport defect, blood-brain barrier OMIM:606777 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 MESH:C536830, GARD:0009265 glucose transport defect, blood-brain barrier OMIM:606777 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 OMIM:606777 glut1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1DS1 OMIM:606777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome GARD:0009265 GLUT1 deficiency syndrome OMIMPS:606777 MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Crigler-Najjar syndrome, type 2 Crigler-Najjar syndrome, type 2 crigler-najjar syndrome, type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 Crigler-Najjar syndrome, type 2 OMIM:606785 MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, crigler-najjar type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 hyperbilirubinemia, Crigler-Najjar type 2 OMIM:606785 MONDO:0011726 peripheral arterial occlusive disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Paod1 Paod1 paod1 OMIM:606787 peripheral arterial occlusive disease 1 OMIM:606787 Paod1 OMIM:606787 -MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:106210 aniridia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 AN OMIM:106210 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym anorexia nervosa, susceptibility to OMIM:606788 anorexia nervosa, susceptibility to OMIM:606788 anorexia nervosa, susceptibility to OMIM:606788 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 AN OMIM:606788 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym ANON anon ANON OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 ANON OMIM:606788 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7429,9 +7061,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 OMIM:607088, MONDO:Lexical spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId CDG IId cdg iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091 CDG IId OMIM:607091 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091, MONDO:Lexical congenital disorder of glycosylation, type IId OMIM:607091 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 OMIM:607095 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 anauxetic dysplasia 1 OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 30 OMIM:607101 deafness, autosomal recessive 30 OMIM:genemap2, MONDO:Lexical, OMIM:607101 deafness, autosomal recessive 30 OMIM:607101 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 OMIM:607101 deafness, autosomal recessive 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 DFNB30 OMIM:607101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Npca Npca npca OMIM:607107 nasopharyngeal carcinoma OMIM:607107 Npca OMIM:607107 @@ -7471,7 +7100,6 @@ MONDO:0011796 epilepsy, partial, with pericentral spikes oio:hasExactSynonym oio MONDO:0011797 infantile-onset ascending hereditary spastic paralysis oio:hasExactSynonym oio:hasRelatedSynonym spastic paralysis, infantile-onset ascending OMIM:607225 spastic paralysis, infantile-onset ascending OMIM:607225, MONDO:Lexical spastic paralysis, infantile-onset ascending OMIM:607225 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 33 OMIM:607239 deafness, autosomal recessive 33 OMIM:607239, OMIM:genemap2, MONDO:Lexical deafness, autosomal recessive 33 OMIM:607239 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym DFNB33 OMIM:607239 deafness, autosomal recessive 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607239, DOID:0110492 DFNB33 OMIM:607239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia, autosomal recessive, with axonal neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 MONDO:0011802 hypercalciuria, absorptive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Hca1 Hca1 hca1 OMIM:607258 hypercalciuria, absorptive, 1 OMIM:607258 Hca1 OMIM:607258 MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 7, autosomal recessive OMIM:607259 spastic paraplegia 7, autosomal recessive OMIM:607259, MONDO:Lexical spastic paraplegia 7, autosomal recessive OMIM:607259 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds ceds OMIM:607271 caspase 8 deficiency OMIM:607271 Ceds OMIM:607271 @@ -7491,7 +7119,6 @@ MONDO:0011813 polydactyly, postaxial, type A3 oio:hasExactSynonym oio:hasRelated MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 smith-mccort dysplasia 1 OMIM:607326 smith-mccort dysplasia 1 OMIM:607326 SMITH-McCort dysplasia 1 OMIM:607326 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC SMC smc OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326 SMC OMIM:607326 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC1 Smc1 SMC1 OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326, MONDO:Lexical SMC1 OMIM:607326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia OMIMPS:607326 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 Smith-McCort dysplasia OMIMPS:607326 MONDO:0011815 hypertension, essential, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Hyt3 Hyt3 hyt3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:607329 Hyt3 OMIM:607329 MONDO:0011816 lathosterolosis oio:hasExactSynonym oio:hasRelatedSynonym Sc5D deficiency Sc5D deficiency sc5d deficiency OMIM:607330 lathosterolosis OMIM:607330 Sc5D deficiency OMIM:607330 MONDO:0011817 coronary heart disease, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Chds1 Chds1 chds1 OMIM:607339 coronary heart disease, susceptibility to, 1 OMIM:607339 Chds1 OMIM:607339 @@ -7570,14 +7197,12 @@ MONDO:0011862 hereditary spastic paraplegia 24 oio:hasExactSynonym oio:hasRelate MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 oio:hasExactSynonym oio:hasRelatedSynonym HPCqtl19 HPCqtl19 hpcqtl19 OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 OMIM:607592 HPCqtl19 OMIM:607592 MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym antibody deficiency due to Icos defect antibody deficiency due to Icos defect antibody deficiency due to icos defect OMIM:607594 immunodeficiency, common variable, 1 OMIM:607594 antibody deficiency due to Icos defect OMIM:607594 MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym CVID1 OMIM:607594 immunodeficiency, common variable, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607594 CVID1 OMIM:607594 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, common variable immunodeficiency, common variable Immunodeficiency, common variable OMIMPS:607594 Immunodeficiency, common variable OMIM:607594 immunodeficiency, common variable OMIMPS:607594 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym Pch1 Pch1 pch1 OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 Pch1 OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia, type 1a MONDO:Lexical, OMIM:607596 pontocerebellar hypoplasia, type 1A OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1A OMIM:607596 pontocerebellar hypoplasia, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596, MONDO:Lexical PCH1A OMIM:607596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, israeli bedouin type a OMIM:607598 lethal congenital contracture syndrome 2 OMIM:607598 multiple contracture syndrome, Israeli Bedouin type a OMIM:607598 -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 ichthyosis, annular epidermolytic, 1 OMIM:607602 ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B niemann-pick disease, type B OMIM:607616 niemann-pick disease, type B OMIM:607616 Niemann-PICK disease, type B OMIM:607616 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Griscelli syndrome, type 2 Griscelli syndrome, type 2 griscelli syndrome, type 2 OMIM:607624 griscelli syndrome, type 2 OMIM:607624, MONDO:Lexical Griscelli syndrome, type 2 OMIM:607624 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 OMIM:607624 Paid syndrome OMIM:607624 @@ -7621,9 +7246,6 @@ MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CMT2 with vocal cord paresis, autosomal recessive CMT2 with vocal cord paresis, autosomal recessive cmt2 with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 CMT2 with vocal cord paresis, autosomal recessive OMIM:607706 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NSLH nslh OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 NSLH OMIM:607721 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH1 OMIM:607721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis, disseminated superficial actinic, 2 OMIM:607728 porokeratosis 4, disseminated superficial actinic type OMIM:607728 porokeratosis, disseminated superficial actinic, 2 OMIM:607728 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2H Charcot-Marie-Tooth disease, axonal, type 2H charcot-marie-tooth disease, axonal, type 2h OMIM:607731 charcot-marie-tooth disease, axonal, type 2h MONDO:Lexical, OMIM:607731 Charcot-Marie-Tooth disease, axonal, type 2H OMIM:607731 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 charcot-marie-tooth disease, axonal, type 2h OMIM:607731 Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 @@ -7698,10 +7320,8 @@ MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar atax MONDO:0011951 amyotrophic lateral sclerosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia MONDO:Lexical, OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 MONDO:Lexical, OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym IIAE3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608033, MONDO:Lexical IIAE3 OMIM:608033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute necrotizing, susceptibility to OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:608033 encephalopathy, acute necrotizing, susceptibility to OMIM:620461 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 oio:hasExactSynonym oio:hasRelatedSynonym noninsulin-dependent diabetes mellitus 4 OMIM:608036 type 2 diabetes mellitus 4 OMIM:608036 noninsulin-dependent diabetes mellitus 4 OMIM:608036 MONDO:0011957 retinal macular dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, retinal, 2 OMIM:608051 macular dystrophy, retinal, 2 MONDO:Lexical, OMIM:608051 macular dystrophy, retinal, 2 OMIM:608051 -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gomm-button disease Gomm-button disease gomm-button disease OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 Gomm-button disease OMIM:608068 MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym neutrophilic dermatosis, acute febrile OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7715,7 +7335,6 @@ MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oi MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type ij OMIM:608093 congenital disorder of glycosylation, type ij OMIM:608093, MONDO:Lexical congenital disorder of glycosylation, type Ij OMIM:608093 MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym Ftle Ftle ftle OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096 Ftle OMIM:608096 MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe, 2 OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096, MONDO:Lexical epilepsy, familial temporal lobe, 2 OMIM:608096 -MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe epilepsy, familial temporal lobe Epilepsy, familial temporal lobe OMIMPS:600512 Epilepsy, familial temporal lobe GARD:0005135 epilepsy, familial temporal lobe OMIMPS:600512 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym heterotopia, periventricular, autosomal recessive OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 heterotopia, periventricular, autosomal recessive OMIM:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym periventricular nodular heterotopia 2 OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 periventricular nodular heterotopia 2 OMIM:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ARPHM OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608097 ARPHM OMIM:608097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7776,15 +7395,12 @@ MONDO:0012011 coronary artery disease, autosomal dominant, 1 oio:hasExactSynonym MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate C Charcot-Marie-Tooth disease, dominant intermediate C charcot-marie-tooth disease, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323, MONDO:Lexical Charcot-Marie-Tooth disease, dominant intermediate C OMIM:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate C Charcot-Marie-Tooth neuropathy, dominant Intermediate C charcot-marie-tooth neuropathy, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 Charcot-Marie-Tooth neuropathy, dominant Intermediate C OMIM:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Di-Cmtc Di-Cmtc di-cmtc OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 Di-Cmtc OMIM:608323 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 mesodermal Dysmorphodystrophy, congenital OMIM:277600 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 spherophakia-brachymorphia syndrome OMIM:277600 MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 mesodermal Dysmorphodystrophy, congenital OMIM:608328 MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 spherophakia-brachymorphia syndrome OMIM:608328 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, recessive intermediate A charcot-marie-tooth disease, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340, MONDO:Lexical Charcot-Marie-Tooth disease, recessive intermediate A OMIM:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, recessive Intermediate a Charcot-Marie-Tooth neuropathy, recessive Intermediate a charcot-marie-tooth neuropathy, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 Charcot-Marie-Tooth neuropathy, recessive Intermediate a OMIM:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Ri-Cmta Ri-Cmta ri-cmta OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 Ri-Cmta OMIM:608340 MONDO:0012015 nystagmus 3, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 3, congenital, autosomal dominant NYSTAGMUS 3, congenital, autosomal dominant nystagmus 3, congenital, autosomal dominant OMIM:608345 nystagmus 3, congenital, autosomal dominant MONDO:Lexical, OMIM:608345 NYSTAGMUS 3, congenital, autosomal dominant OMIM:608345 -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation OMIM:608354 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation OMIMPS:608354 MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK Sedk SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7832,7 +7448,6 @@ MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelated MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A4 postaxial polydactyly, type A4 postaxial polydactyly, type a4 OMIM:608562 polydactyly, postaxial, type a4 OMIM:608562 postaxial polydactyly, type A4 OMIM:608562 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 35 OMIM:608565 deafness, autosomal recessive 35 MONDO:Lexical, OMIM:608565, OMIM:genemap2 deafness, autosomal recessive 35 OMIM:608565 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym DFNB35 OMIM:608565 deafness, autosomal recessive 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110493, MONDO:Lexical, OMIM:608565 DFNB35 OMIM:608565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012061 familial sick sinus syndrome oio:hasExactSynonym oio:hasRelatedSynonym SSS1 OMIM:608567 sick sinus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608567 SSS1 OMIM:608567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1o OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569, MONDO:Lexical cardiomyopathy, dilated, 1O OMIM:608569 MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569 cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ulnar/fibular RAY defect and brachydactyly ulnar/fibular RAY defect and brachydactyly ulnar/fibular ray defect and brachydactyly OMIM:608571 ulnar/fibular ray defect and brachydactyly OMIM:608571 ulnar/fibular RAY defect and brachydactyly OMIM:608571 @@ -7916,13 +7531,6 @@ MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym o MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome oio:hasExactSynonym oio:hasRelatedSynonym sudden infant death with dysgenesis of the testes syndrome OMIM:608800 sudden infant death with dysgenesis of the testes syndrome MONDO:Lexical, OMIM:608800 sudden infant death with dysgenesis of the testes syndrome OMIM:608800 MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Pelizaeus-Merzbacher-like disease, 1 Pelizaeus-Merzbacher-like disease, 1 pelizaeus-merzbacher-like disease, 1 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804 Pelizaeus-Merzbacher-like disease, 1 OMIM:608804 MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 2 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804, MONDO:Lexical leukodystrophy, hypomyelinating, 2 OMIM:608804 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary, 1 avascular NECROSIS of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular NECROSIS of femoral head, primary, 1 OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular Necrosis of femoral head, primary, 1 avascular Necrosis of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular Necrosis of femoral head, primary, 1 OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, aseptic Necrosis of femoral head, aseptic Necrosis of femoral head, aseptic necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 femoral head, aseptic Necrosis of OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, avascular Necrosis of femoral head, avascular Necrosis of femoral head, avascular necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 femoral head, avascular Necrosis of OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ischemic Necrosis of femoral head ischemic Necrosis of femoral head ischemic necrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 ischemic Necrosis of femoral head OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym osteonecrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 osteonecrosis of femoral head OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ANFH1 OMIM:608805 avascular necrosis of femoral head, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608805 ANFH1 OMIM:608805 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary avascular NECROSIS of femoral head, primary Avascular necrosis of femoral head, primary OMIMPS:608805 Avascular necrosis of femoral head, primary OMIM:608805, MONDO:Lexical avascular NECROSIS of femoral head, primary OMIMPS:608805 MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema oio:hasExactSynonym oio:hasRelatedSynonym LACH OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608809, MONDO:Lexical LACH OMIM:608809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 2 OMIM:608810 myopathy, myofibrillar, 2 OMIM:608810, MONDO:Lexical myopathy, myofibrillar, 2 OMIM:608810 @@ -7949,8 +7557,6 @@ MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSyno MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:608885 cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym SDCHCN OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608885 SDCHCN OMIM:608885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym ARMD3 OMIM:608895 macular degeneration, age-related, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608895 ARMD3 OMIM:608895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 neuropathy, hereditary, with or without age-related macular Degeneration OMIM:619764 -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hlh3 Hlh3 hlh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 Hlh3 OMIM:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hplh3 Hplh3 hplh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 Hplh3 OMIM:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 MONDO:Lexical, OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 @@ -7959,7 +7565,6 @@ MONDO:0012147 coronary heart disease, susceptibility to, 5 oio:hasExactSynonym o MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, late-onset Alzheimer disease 9, late-onset alzheimer disease 9, late-onset OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 Alzheimer disease 9, late-onset OMIM:608907 MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, susceptibility to Alzheimer disease 9, susceptibility to alzheimer disease 9, susceptibility to OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 Alzheimer disease 9, susceptibility to OMIM:608907 MONDO:0012154 myopia 6 oio:hasExactSynonym oio:hasRelatedSynonym MYP6 OMIM:608908 myopia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608908 MYP6 OMIM:608908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA OMIM:105250 MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym choanal atresia, POSTERIOR choanal atresia, POSTERIOR choanal atresia, posterior OMIM:608911 choanal atresia, posterior OMIM:608911, MONDO:Lexical choanal atresia, POSTERIOR OMIM:608911 MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 myasthenic syndrome, congenital, 1B, FAST-channel OMIM:608930 @@ -7973,7 +7578,6 @@ MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-shaped pigmentary, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, butterfly-Shaped pigmentary, 2 OMIM:608970 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:608971 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:608971 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies MONDO:Lexical, OMIM:608980 bifid NOSE with or without anorectal and renal anomalies OMIM:608980 MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym BNAR OMIM:608980 bifid nose with or without anorectal and renal anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608980 BNAR OMIM:608980 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym Adsa Adsa adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant OMIM:608984 Adsa OMIM:608984 @@ -7981,12 +7585,9 @@ MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRel MONDO:0012169 premature ovarian failure 3 oio:hasExactSynonym oio:hasRelatedSynonym POF3 Pof3 POF3 OMIM:608996 premature ovarian failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608996 POF3 OMIM:608996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006, MONDO:Lexical deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym DFNB36 OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609006, MONDO:Lexical, DOID:0110494 DFNB36 OMIM:609006 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym trifunctional Protein deficiency trifunctional Protein deficiency trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional protein deficiency 1 OMIM:609015 trifunctional Protein deficiency OMIM:609015 -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym MTPD MTPD mtpd OMIM:609015 mitochondrial trifunctional protein deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609015 MTPD OMIM:609015 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency OMIMPS:609015 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency OMIMPS:609015 MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:609016 MONDO:0012175 cataract 28 oio:hasExactSynonym oio:hasRelatedSynonym cataract, age-related cortical, 1 OMIM:609026 cataract 28 OMIM:609026 cataract, age-related cortical, 1 OMIM:609026 -MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:609029 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym supernumerary Der(22)T(11 supernumerary Der(22)T(11 supernumerary der(22)t(11 OMIM:609029 emanuel syndrome OMIM:609029 supernumerary Der(22)T(11 OMIM:609029 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym POSTERIOR column ataxia with retinitis pigmentosa POSTERIOR column ataxia with retinitis pigmentosa posterior column ataxia with retinitis pigmentosa OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033, MONDO:Lexical POSTERIOR column ataxia with retinitis pigmentosa OMIM:609033 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pcarp Pcarp pcarp OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033 Pcarp OMIM:609033 @@ -8028,7 +7629,6 @@ MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia East London pseudohyperkalemia East London pseudohyperkalemia east london OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia East London OMIM:609153 MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Falkirk pseudohyperkalemia Falkirk pseudohyperkalemia falkirk OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia Falkirk OMIM:609153 MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Lille pseudohyperkalemia Lille pseudohyperkalemia lille OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia Lille OMIM:609153 -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 oio:hasExactSynonym oio:hasRelatedSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant MONDO:Lexical, OMIM:609161 striatal degeneration, autosomal dominant OMIMPS:609161 MONDO:0012207 umbilicus, familial flat oio:hasExactSynonym oio:hasRelatedSynonym flat umbilicus, autosomal dominant OMIM:609164 umbilicus, familial flat OMIM:609164 flat umbilicus, autosomal dominant OMIM:609164 MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, congenital reticular OMIM:609165 ichthyosis with confetti OMIM:609165, MONDO:Lexical erythroderma, ichthyosiform, congenital reticular OMIM:609165 MONDO:0012209 branchiogenic deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRANCHIOGENIC-deafness syndrome BRANCHIOGENIC-deafness syndrome branchiogenic-deafness syndrome OMIM:609166 branchiogenic-deafness syndrome OMIM:609166 BRANCHIOGENIC-deafness syndrome OMIM:609166 @@ -8039,7 +7639,6 @@ MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 5 OMIM:609192 loeys-dietz syndrome 1 OMIM:609192 aortic aneurysm, familial thoracic 5 OMIM:609192 MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LDS1 OMIM:609192 loeys-dietz syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609192 LDS1 OMIM:609192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012213 hereditary spastic paraplegia 26 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 26, autosomal recessive OMIM:609195 spastic paraplegia 26, autosomal recessive OMIM:609195, MONDO:Lexical spastic paraplegia 26, autosomal recessive OMIM:609195 -MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 OMIM:609197 glucocorticoid deficiency 2 OMIM:607398 MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym familial glucocorticoid deficiency 3 OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 familial glucocorticoid deficiency 3 OMIM:609197 MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2, formerly OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 glucocorticoid deficiency 2, formerly OMIM:609197 MONDO:0012215 myofibrillar myopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 3 OMIM:609200 myopathy, myofibrillar, 3 OMIM:609200, MONDO:Lexical myopathy, myofibrillar, 3 OMIM:609200 @@ -8080,7 +7679,6 @@ MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 oio:hasExactSynonym o MONDO:0012237 nemaline myopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym NEM6 OMIM:609273 nemaline myopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609273 NEM6 OMIM:609273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM:609283 progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOA2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609283, MONDO:Lexical PEOA2 OMIM:609283 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012239 congenital myopathy 4B, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 1 OMIM:255310 congenital myopathy 4a, autosomal dominant MONDO:Lexical, OMIM:609284 nemaline myopathy 1 OMIM:255310 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM:609286 progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym PEOA3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609286, MONDO:Lexical PEOA3 OMIM:609286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012242 syncope, familial vasovagal oio:hasExactSynonym oio:hasRelatedSynonym syncope, familial Neurocardiogenic syncope, familial Neurocardiogenic syncope, familial neurocardiogenic OMIM:609289 syncope, familial vasovagal OMIM:609289 syncope, familial Neurocardiogenic OMIM:609289 @@ -8171,7 +7769,6 @@ MONDO:0012314 short QT syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012315 distal 10q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal chromosome 10Q26 deletion syndrome terminal chromosome 10Q26 deletion syndrome terminal chromosome 10q26 deletion syndrome OMIM:609625 chromosome 10q26 deletion syndrome OMIM:609625 terminal chromosome 10Q26 deletion syndrome OMIM:609625 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome majeed syndrome OMIM:609628 majeed syndrome OMIM:609628 MAJEED syndrome OMIM:609628 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MJDS OMIM:609628 majeed syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609628 MJDS OMIM:609628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, idiopathic intestinal OMIM:155310 visceral myopathy 1 OMIM:609629 pseudoobstruction, idiopathic intestinal OMIM:155310 MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym enteric neuropathy, familial OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 enteric neuropathy, familial OMIM:609629 MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Clls1 Clls1 clls1 OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 OMIM:609630 Clls1 OMIM:609630 @@ -8205,7 +7802,6 @@ MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 22, multiple types OMIM:609741 cataract 22, multiple types OMIM:609741, MONDO:Lexical cataract 22, multiple types OMIM:609741 MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 cataract 22, multiple types OMIM:609741 cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 celiac disease, susceptibility to, 4 OMIM:609753 gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym CELIAC4 OMIM:609753 celiac disease, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609753 CELIAC4 OMIM:609753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012340 celiac disease, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 celiac disease, susceptibility to, 2 OMIM:609754 gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 @@ -8239,9 +7835,6 @@ MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynon MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym oio:hasNarrowSynonym DFNB28 OMIM:609823 deafness, autosomal recessive 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609823, DOID:0110486 DFNB28 OMIM:609823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012358 leprosy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym leprosy, Paucibacillary type, susceptibility to, 1 leprosy, Paucibacillary type, susceptibility to, 1 leprosy, paucibacillary type, susceptibility to, 1 OMIM:609888 leprosy, susceptibility to, 1 OMIM:609888 leprosy, Paucibacillary type, susceptibility to, 1 OMIM:609888 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity OMIM:609889 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 resistance to thyrotropin OMIM:218700 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 thyrotropin resistance OMIM:218700 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:609893 thyrotropin resistance OMIM:275200 MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 resistance to thyrotropin OMIM:609893 MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 thyrotropin resistance OMIM:609893 MONDO:0012364 dilated cardiomyopathy 1Q oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1q OMIM:609915 cardiomyopathy, dilated, 1q MONDO:Lexical, OMIM:609915 cardiomyopathy, dilated, 1Q OMIM:609915 @@ -8259,9 +7852,6 @@ MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynony MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynonym oio:hasNarrowSynonym DFNA53 OMIM:609965 deafness, autosomal dominant 53 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609965, DOID:0110579 DFNA53 OMIM:609965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968, MONDO:Lexical hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym HHF5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609968 HHF5 OMIM:609968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HADH deficiency HADH deficiency hadh deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency GARD:0009870, MESH:C535310, OMIM:231530 HADH deficiency OMIM:231530 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency, formerly SCHAD deficiency, formerly schad deficiency, formerly OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 SCHAD deficiency, formerly OMIM:231530 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 HHF4 OMIM:609975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 OMIM:609981 immunodeficiency 54 OMIM:609981 immunodeficiency 54 OMIM:609981 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural killer cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 immunodeficiency 54 OMIM:609981, MONDO:Lexical natural KILLER cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 @@ -8275,7 +7865,6 @@ MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym me MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 trichoscyphodysplasia OMIM:609990 metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 OMIM:600143 ceroid lipofuscinosis, neuronal, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 CLN8 OMIM:600143 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant OMIM:610003 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive, with mental retardation OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:610003 epilepsy, progressive, with mental retardation OMIM:610003 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym 2-methylbutyryl Glycinuria 2-methylbutyryl Glycinuria 2-methylbutyryl glycinuria OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency OMIM:610006 2-methylbutyryl Glycinuria OMIM:610006 @@ -8303,7 +7892,6 @@ MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:ha MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, plp-sensitive OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency OMIM:610090 seizures, pyridoxine-resistant, PLP-sensitive OMIM:610090 MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym PNPOD OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610090 PNPOD OMIM:610090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012408 microphthalmia, isolated, with coloboma 3 oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB3 OMIM:610092 microphthalmia/coloboma 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610092, MONDO:Lexical MCOPCB3 OMIM:610092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:610093 anophthalmia, clinical, isolated OMIM:251600 MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:610093 anophthalmia, clinical, isolated OMIM:610093 MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 2 OMIM:610093 microphthalmia, isolated 2 OMIM:610093, MONDO:Lexical microphthalmia, isolated 2 OMIM:610093 MONDO:0012410 Finnish upper limb-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 3 OMIM:610099 myopathy, distal, 3 MONDO:Lexical, OMIM:610099 myopathy, distal, 3 OMIM:610099 @@ -8330,11 +7918,6 @@ MONDO:0012423 MORM syndrome oio:hasExactSynonym oio:hasRelatedSynonym MORMS OM MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym Fcd1 locus Fcd1 locus fcd1 locus OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 Fcd1 locus OMIM:610158 MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 2 OMIM:610158 MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 MONDO:0012426 immunodeficiency 25 oio:hasExactSynonym oio:hasRelatedSynonym IMD25 OMIM:610163 immunodeficiency 25 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610163 IMD25 OMIM:610163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Marfan syndrome, type II, formerly Marfan syndrome, type II, formerly marfan syndrome, type ii, formerly OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 Marfan syndrome, type II, formerly OMIM:610168 MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 3 OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 aortic aneurysm, familial thoracic 3 OMIM:610168 @@ -8435,14 +8018,12 @@ MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:has MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, rhodopsin-related OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 OMIM:610445 night blindness, congenital stationary, rhodopsin-related OMIM:610445 MONDO:0012499 Buruli ulcer, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Mycobacterium ulcerans, susceptibility to Mycobacterium ulcerans, susceptibility to mycobacterium ulcerans, susceptibility to OMIM:610446 buruli ulcer, susceptibility to OMIM:610446 Mycobacterium ulcerans, susceptibility to OMIM:610446 MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasRelatedSynonym CHBL1 OMIM:610448 chilblain lupus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610448 CHBL1 OMIM:610448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasBroadSynonym chilblain lupus chilblain lupus Chilblain lupus OMIMPS:610448 Chilblain lupus OMIM:610448, OMIM:genemap2 chilblain lupus OMIMPS:610448 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with normophosphatemia OMIM:610455 tumoral calcinosis, normophosphatemic, familial OMIM:610455 calcinosis, tumoral, with Normophosphatemia OMIM:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym tumoral calcinosis, normophosphatemic, familial OMIM:610455 tumoral calcinosis, normophosphatemic, familial MONDO:Lexical, OMIM:610455 tumoral calcinosis, normophosphatemic, familial OMIM:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym NFTC OMIM:610455 tumoral calcinosis, normophosphatemic, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610455 NFTC OMIM:610455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of, 1 Thiopurines, poor metabolism of, 1 thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 Thiopurines, poor metabolism of, 1 OMIM:610460 MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym THPM1 OMIM:610460 thiopurines, poor metabolism of, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610460 THPM1 OMIM:610460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of OMIMPS:610460 Thiopurines, poor metabolism of OMIM:610460 Thiopurines, poor metabolism of OMIMPS:610460 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym CATSHLS OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610474 CATSHLS OMIM:610474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Cushing syndrome, adrenal, due to PPNAD2 Cushing syndrome, adrenal, due to PPNAD2 cushing syndrome, adrenal, due to ppnad2 OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 OMIM:610475 Cushing syndrome, adrenal, due to PPNAD2 OMIM:610475 @@ -8477,7 +8058,6 @@ MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRela MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 MONDO:0012522 diabetes mellitus, transient neonatal, 3 oio:hasExactSynonym oio:hasRelatedSynonym Tndm3 Tndm3 tndm3 OMIM:610582 diabetes mellitus, transient neonatal, 3 OMIM:610582 Tndm3 OMIM:610582 -MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:610600 hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 18-oxidase deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 18-oxidase deficiency OMIM:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cmo 2 deficiency Cmo 2 deficiency cmo 2 deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 Cmo 2 deficiency OMIM:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 2 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 aldosterone deficiency 2 OMIM:610600 @@ -8622,15 +8202,8 @@ MONDO:0012638 microphthalmia-brain atrophy syndrome oio:hasExactSynonym oio:hasR MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and joint contractures OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225 intellectual disability, motor dysfunction, and Joint contractures OMIM:611225 MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 18, autosomal recessive OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225, MONDO:Lexical spastic paraplegia 18, autosomal recessive OMIM:611225 MONDO:0012640 Charcot-Marie-Tooth disease type 4J oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal recessive, type 4J Charcot-Marie-Tooth disease, autosomal recessive, type 4J charcot-marie-tooth disease, autosomal recessive, type 4j OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j OMIM:611228 Charcot-Marie-Tooth disease, autosomal recessive, type 4J OMIM:611228 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611247 bipolar affective disorder OMIM:125480 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611247 bipolar affective disorder OMIM:309200 MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 4 MAJOR affective disorder 4 major affective disorder 4 OMIM:611247 major affective disorder 4 OMIM:611247 MAJOR affective disorder 4 OMIM:611247 MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611247 bipolar affective disorder OMIM:611247 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611247 bipolar affective disorder OMIM:611535 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611247 bipolar affective disorder OMIM:611536 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611247 bipolar affective disorder OMIM:612357 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611247 bipolar affective disorder OMIM:612371 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611247 bipolar affective disorder OMIM:612372 MONDO:0012643 hereditary spastic paraplegia 32 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 32, autosomal recessive OMIM:611252 spastic paraplegia 32, autosomal recessive MONDO:Lexical, OMIM:611252 spastic paraplegia 32, autosomal recessive OMIM:611252 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acad8 deficiency Acad8 deficiency acad8 deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 Acad8 deficiency OMIM:611283 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym IBD deficiency IBD deficiency ibd deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 IBD deficiency OMIM:611283 @@ -8675,24 +8248,10 @@ MONDO:0012681 febrile seizures, familial, 7 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523 encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 6 OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523, MONDO:Lexical pontocerebellar hypoplasia, type 6 OMIM:611523 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611535 bipolar affective disorder OMIM:125480 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611535 bipolar affective disorder OMIM:309200 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611535 bipolar affective disorder OMIM:611247 MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 5 MAJOR affective disorder 5 major affective disorder 5 OMIM:611535 major affective disorder 5 OMIM:611535 MAJOR affective disorder 5 OMIM:611535 MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611535 bipolar affective disorder OMIM:611535 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611535 bipolar affective disorder OMIM:611536 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611535 bipolar affective disorder OMIM:612357 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611535 bipolar affective disorder OMIM:612371 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611535 bipolar affective disorder OMIM:612372 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611536 bipolar affective disorder OMIM:125480 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611536 bipolar affective disorder OMIM:309200 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611536 bipolar affective disorder OMIM:611247 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611536 bipolar affective disorder OMIM:611535 MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 6 MAJOR affective disorder 6 major affective disorder 6 OMIM:611536 major affective disorder 6 OMIM:611536 MAJOR affective disorder 6 OMIM:611536 MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611536 bipolar affective disorder OMIM:611536 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611536 bipolar affective disorder OMIM:612357 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611536 bipolar affective disorder OMIM:612371 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611536 bipolar affective disorder OMIM:612372 MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym cavitary optic DISC anomalies cavitary optic DISC anomalies cavitary optic disc anomalies OMIM:611543 cavitary optic disc anomalies OMIM:611543, MONDO:Lexical cavitary optic DISC anomalies OMIM:611543 MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym CODA OMIM:611543 cavitary optic disc anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:611543 CODA OMIM:611543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012688 cataract 17 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 17, multiple types OMIM:611544 cataract 17, multiple types OMIM:611544, MONDO:Lexical cataract 17, multiple types OMIM:611544 @@ -8787,7 +8346,6 @@ MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:ha MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 MONDO:0012758 prostate cancer, hereditary, 13 oio:hasExactSynonym oio:hasRelatedSynonym HPC13 OMIM:611928 prostate cancer, hereditary, 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611928, MONDO:Lexical HPC13 OMIM:611928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 camptodactyly syndrome, Guadalajara, type 3 OMIM:611929 -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 3q29 DUPLICATION syndrome chromosome 3q29 DUPLICATION syndrome chromosome 3q29 duplication syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 chromosome 3q29 DUPLICATION syndrome OMIM:611936 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym microduplication 3Q29 syndrome microduplication 3Q29 syndrome microduplication 3q29 syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 microduplication 3Q29 syndrome OMIM:611936 @@ -8907,34 +8465,13 @@ MONDO:0012874 porokeratosis 6, disseminated superficial actinic type oio:hasExac MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf 2 deficiency Hcf 2 deficiency hcf 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 Hcf 2 deficiency OMIM:612356 MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf2 deficiency Hcf2 deficiency hcf2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 Hcf2 deficiency OMIM:612356 MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612357 bipolar affective disorder OMIM:125480 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612357 bipolar affective disorder OMIM:309200 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612357 bipolar affective disorder OMIM:611247 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612357 bipolar affective disorder OMIM:611535 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612357 bipolar affective disorder OMIM:611536 MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 8 MAJOR affective disorder 8 major affective disorder 8 OMIM:612357 major affective disorder 8 OMIM:612357 MAJOR affective disorder 8 OMIM:612357 MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612357 bipolar affective disorder OMIM:612357 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612357 bipolar affective disorder OMIM:612371 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612357 bipolar affective disorder OMIM:612372 MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym Sczd14 Sczd14 sczd14 OMIM:612361 schizophrenia 14 OMIM:612361 Sczd14 OMIM:612361 MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2q32-related OMIM:612361 schizophrenia 14 OMIM:612361 schizophrenia susceptibility locus, chromosome 2Q32-related OMIM:612361 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH5 OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612370, MONDO:Lexical HH5 OMIM:612370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612371 bipolar affective disorder OMIM:125480 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612371 bipolar affective disorder OMIM:309200 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612371 bipolar affective disorder OMIM:611247 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612371 bipolar affective disorder OMIM:611535 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612371 bipolar affective disorder OMIM:611536 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612371 bipolar affective disorder OMIM:612357 MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612371 bipolar affective disorder OMIM:612371 MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym MAFD7 OMIM:612371 major affective disorder 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612371, MONDO:Lexical MAFD7 OMIM:612371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612371 bipolar affective disorder OMIM:612372 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612372 bipolar affective disorder OMIM:125480 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612372 bipolar affective disorder OMIM:309200 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612372 bipolar affective disorder OMIM:611247 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612372 bipolar affective disorder OMIM:611535 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612372 bipolar affective disorder OMIM:611536 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612372 bipolar affective disorder OMIM:612357 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612372 bipolar affective disorder OMIM:612371 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 9 MAJOR affective disorder 9 major affective disorder 9 OMIM:612372 major affective disorder 9 OMIM:612372 MAJOR affective disorder 9 OMIM:612372 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612372 bipolar affective disorder OMIM:612372 MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute promyelocytic OMIM:612376 acute promyelocytic leukemia OMIM:612376 leukemia, acute promyelocytic OMIM:612376 @@ -9002,15 +8539,12 @@ MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 oio:hasExact MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Clls3 Clls3 clls3 OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 OMIM:612557 Clls3 OMIM:612557 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym Clls4 Clls4 clls4 OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 OMIM:612558 Clls4 OMIM:612558 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym Clls5 Clls5 clls5 OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 OMIM:612559 Clls5 OMIM:612559 -MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:105650 diamond-blackfan anemia 1 OMIM:612561 Aase-Smith syndrome 2 OMIM:105650 MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:612561 Aase-Smith syndrome 2 OMIM:612561 MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym DBA6 OMIM:612561 diamond-blackfan anemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612561 DBA6 OMIM:612561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012938 Diamond-Blackfan anemia 7 oio:hasExactSynonym oio:hasRelatedSynonym DBA7 OMIM:612562 diamond-blackfan anemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612562 DBA7 OMIM:612562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012939 Diamond-Blackfan anemia 8 oio:hasExactSynonym oio:hasRelatedSynonym DBA8 OMIM:612563 diamond-blackfan anemia 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612563 DBA8 OMIM:612563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease 25, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive MONDO:Lexical, OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:612567 MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0012942 lung cancer susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of lung, susceptibility to OMIM:612571 lung cancer susceptibility 3 OMIM:612571 adenocarcinoma of lung, susceptibility to OMIM:612571 MONDO:0012943 retinitis pigmentosa 46 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, idh3b-related OMIM:612572 retinitis pigmentosa 46 OMIM:612572 retinitis pigmentosa, autosomal recessive, Idh3B-related OMIM:612572 MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation with long bone deficiency 3 OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome OMIM:612576 split-hand/foot malformation with long bone deficiency 3 OMIM:612576 @@ -9025,39 +8559,20 @@ MONDO:0012953 colorectal cancer, susceptibility to, 10 oio:hasExactSynonym oio:h MONDO:0012954 colorectal cancer, susceptibility to, 11 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20p OMIM:612592 colorectal cancer, susceptibility to, 11 OMIM:612592 colorectal cancer, susceptibility to, on chromosome 20P OMIM:612592 MONDO:0012960 intellectual disability, autosomal dominant 5 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 5 OMIM:612621 intellectual developmental disorder, autosomal dominant 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:612621 mental retardation, autosomal dominant 5 OMIM:612621 MONDO:0012961 type 1 diabetes mellitus 23 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-dependent, 23 OMIM:612622 type 1 diabetes mellitus 23 MONDO:Lexical, OMIM:612622 diabetes mellitus, insulin-dependent, 23 OMIM:612622 -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 end-stage renal disease, diabetic, susceptibility to OMIM:612623 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym MVCD2 OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612623 MVCD2 OMIM:612623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612623 end-stage renal disease, diabetic, susceptibility to OMIM:612624 -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612624 end-stage renal disease, diabetic, susceptibility to OMIM:612623 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 end-stage renal disease, diabetic, susceptibility to OMIM:612624 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612624 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym MVCD3 OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612624 MVCD3 OMIM:612624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012965 seizures, benign familial infantile, 4 oio:hasExactSynonym oio:hasRelatedSynonym convulsions, benign familial infantile, 4 OMIM:612627 seizures, benign familial infantile, 4 OMIM:612627 convulsions, benign familial infantile, 4 OMIM:612627 -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612624 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612628 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym MVCD4 OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612628 MVCD4 OMIM:612628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ADENYLATE KINASE deficiency, hemolytic anemia due to ADENYLATE KINASE deficiency, hemolytic anemia due to adenylate kinase deficiency, hemolytic anemia due to OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 OMIM:612631 ADENYLATE KINASE deficiency, hemolytic anemia due to OMIM:612631 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, diabetic, susceptibility to OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 OMIM:612633 retinopathy, diabetic, susceptibility to OMIM:612633 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym MVCD5 OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612633 MVCD5 OMIM:612633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612628 MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612634 MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym MVCD6 OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612634 MVCD6 OMIM:612634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612635 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612634 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 @@ -9190,7 +8705,6 @@ MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit de MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oio:hasExactSynonym oio:hasRelatedSynonym GSD11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:612933, MESH:C538133 GSD11 OMIM:612933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 spastic paraplegia 50, autosomal recessive OMIM:612936 cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 50, autosomal recessive OMIM:612936 spastic paraplegia 50, autosomal recessive MONDO:Lexical, OMIM:612936 spastic paraplegia 50, autosomal recessive OMIM:612936 -MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3 OMIM:617008 cerebral palsy, spastic quadriplegic, 3 OMIM:612936 cerebral palsy, spastic quadriplegic, 3 OMIM:617008 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG Io CDG Io cdg io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 CDG Io OMIM:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Cdg1(Dpm3) Cdg1(Dpm3) cdg1(dpm3) OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 Cdg1(Dpm3) OMIM:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937, MONDO:Lexical congenital disorder of glycosylation, type Io OMIM:612937 @@ -9239,10 +8753,8 @@ MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 3 OMIM:613008 biliary cirrhosis, primary, 3 OMIM:613008, MONDO:Lexical biliary cirrhosis, primary, 3 OMIM:613008 MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym PBC3 OMIM:613008 biliary cirrhosis, primary, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613008, MONDO:Lexical PBC3 OMIM:613008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013083 neuroblastoma, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym NBLST3 OMIM:613014 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613014, MONDO:Lexical NBLST3 OMIM:613014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613021 cystic fibrosis-like syndrome OMIM:211400 MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613021 cystic fibrosis-like syndrome OMIM:613021 MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym BESC2 OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613021 BESC2 OMIM:613021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613021 cystic fibrosis-like syndrome OMIM:613071 MONDO:0013091 glycogen storage disease IXc oio:hasExactSynonym oio:hasRelatedSynonym GSD IXc GSD IXc gsd ixc OMIM:613027 glycogen storage disease ixc OMIM:613027 GSD IXc OMIM:613027 MONDO:0013092 glioma susceptibility 2 oio:hasExactSynonym oio:hasRelatedSynonym GLM2 OMIM:613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613028, MONDO:Lexical GLM2 OMIM:613028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013093 glioma susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym GLM3 OMIM:613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613029, MONDO:Lexical GLM3 OMIM:613029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9252,8 +8764,6 @@ MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 oio:hasExactSyno MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 MONDO:Lexical, OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym ALL2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613067, MONDO:Lexical ALL2 OMIM:613067 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency oio:hasExactSynonym oio:hasRelatedSynonym neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate transport deficiency OMIM:613068 neurodegeneration due to cerebral folate transport deficiency OMIM:613068 neurodegeneration due to cerebral folate TRANSPORT deficiency OMIM:613068 -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613071 cystic fibrosis-like syndrome OMIM:211400 -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613071 cystic fibrosis-like syndrome OMIM:613021 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613071 cystic fibrosis-like syndrome OMIM:613071 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym BESC3 OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613071, MONDO:Lexical BESC3 OMIM:613071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013113 metaphyseal anadysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MANDP2 OMIM:613073 metaphyseal anadysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613073 MANDP2 OMIM:613073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9341,11 +8851,8 @@ MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oi MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oio:hasRelatedSynonym ASRT8 OMIM:613207 asthma-related traits, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613207, MONDO:Lexical ASRT8 OMIM:613207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211, MONDO:Lexical amelogenesis imperfecta, hypomaturation type, IIA3 OMIM:613211 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 chromosome 17p13.3, centromeric, DUPLICATION syndrome OMIM:613215 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613216 CSNB, complete, autosomal recessive OMIM:257270 MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613216 CSNB, complete, autosomal recessive OMIM:613216 MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1c OMIM:613216 night blindness, congenital stationary, type 1c MONDO:Lexical, OMIM:613216 night blindness, congenital stationary, type 1C OMIM:613216 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613216 CSNB, complete, autosomal recessive OMIM:613830 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613216 CSNB, complete, autosomal recessive OMIM:614565 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 5, with tufting enteropathy, congenital OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217, MONDO:Lexical diarrhea 5, with tufting enteropathy, congenital OMIM:613217 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym enteropathy, congenital tufting OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 enteropathy, congenital tufting OMIM:613217 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym intestinal epithelial cell dysplasia OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 intestinal epithelial cell dysplasia OMIM:613217 @@ -9364,41 +8871,16 @@ MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4B, with Hirschsprung disease Waardenburg syndrome, type 4B, with Hirschsprung disease waardenburg syndrome, type 4b, with hirschsprung disease OMIM:613265 waardenburg syndrome, type 4b OMIM:613265 Waardenburg syndrome, type 4B, with Hirschsprung disease OMIM:613265 MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome with Hirschsprung disease, type 4C Waardenburg syndrome with Hirschsprung disease, type 4C waardenburg syndrome with hirschsprung disease, type 4c OMIM:613266 waardenburg syndrome, type 4c OMIM:613266 Waardenburg syndrome with Hirschsprung disease, type 4C OMIM:613266 MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4C Waardenburg syndrome, type 4C waardenburg syndrome, type 4c OMIM:613266 waardenburg syndrome, type 4c MONDO:Lexical, OMIM:613266 Waardenburg syndrome, type 4C OMIM:613266 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym Fcd2 locus Fcd2 locus fcd2 locus OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 Fcd2 locus OMIM:613267 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym FECD3 OMIM:613267 corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613267, MONDO:Lexical FECD3 OMIM:613267 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FECD4 OMIM:613268 corneal dystrophy, fuchs endothelial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613268, MONDO:Lexical FECD4 OMIM:613268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym Fcd3 locus Fcd3 locus fcd3 locus OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 Fcd3 locus OMIM:613269 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 5 OMIM:613269 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym FECD6 OMIM:613270 corneal dystrophy, fuchs endothelial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613270, MONDO:Lexical FECD6 OMIM:613270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym Fcd4 locus Fcd4 locus fcd4 locus OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 Fcd4 locus OMIM:613271 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 7 OMIM:613271 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 @@ -9531,7 +9013,6 @@ MONDO:0013308 CBL-related disorder oio:hasExactSynonym oio:hasRelatedSynonym NSL MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency OMIM:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to por deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to POR deficiency OMIM:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency OMIM:613571 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 MONDO:Lexical, OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 MONDO:Lexical, OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 MONDO:0013316 occult macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Omd Omd omd OMIM:613587 occult macular dystrophy OMIM:613587 Omd OMIM:613587 MONDO:0013318 early repolarization associated with ventricular fibrillation oio:hasExactSynonym oio:hasRelatedSynonym early repolarization syndrome OMIM:613601 early repolarization associated with ventricular fibrillation OMIM:613601 early repolarization syndrome OMIM:613601 @@ -9552,7 +9033,6 @@ MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSynonym HP3 OMIM:613616 hyperoxaluria, primary, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613616, MONDO:Lexical HP3 OMIM:613616 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 chromosome 17q23.1-q23.2 DUPLICATION syndrome OMIM:613618 MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 oio:hasExactSynonym oio:hasRelatedSynonym F5F8D2 OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613625, MONDO:Lexical F5F8D2 OMIM:613625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome OMIM:613627 Tsukahara syndrome OMIM:603438 MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome OMIM:613627 Tsukahara syndrome OMIM:613627 MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym Tst1 Tst1 tst1 OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 Tst1 OMIM:613636 MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym tst reactivity, absence of OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 tst reactivity, absence of OMIM:613636 @@ -9693,11 +9173,8 @@ MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P oio:has MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9 deficiency C9 deficiency c9 deficiency OMIM:613825 complement component 9 deficiency OMIM:613825 C9 deficiency OMIM:613825 MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9D OMIM:613825 complement component 9 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613825, MONDO:Lexical C9D OMIM:613825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 oio:hasExactSynonym oio:hasRelatedSynonym Gefs+, type 8 Gefs+, type 8 gefs+, type 8 OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 OMIM:613828 Gefs+, type 8 OMIM:613828 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613830 Csnb, complete, autosomal recessive OMIM:257270 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613830 Csnb, complete, autosomal recessive OMIM:613216 MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613830 Csnb, complete, autosomal recessive OMIM:613830 MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1d OMIM:613830 night blindness, congenital stationary, type 1d MONDO:Lexical, OMIM:613830 night blindness, congenital stationary, type 1D OMIM:613830 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613830 Csnb, complete, autosomal recessive OMIM:614565 MONDO:0013452 multisystemic smooth muscle dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 smooth muscle dysfunction syndrome OMIM:613834 mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 MONDO:0013455 hypertrophic cardiomyopathy 16 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 16 OMIM:613838 cardiomyopathy, familial hypertrophic, 16 MONDO:Lexical, OMIM:613838 cardiomyopathy, familial hypertrophic, 16 OMIM:613838 MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease oio:hasExactSynonym oio:hasRelatedSynonym megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 @@ -9757,14 +9234,11 @@ MONDO:0013497 Okt4 epitope deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia 15 with or without an affective disorder OMIM:613950 schizophrenia 15 OMIM:613950 schizophrenia 15 with or without an affective disorder OMIM:613950 MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22q13-related OMIM:613950 schizophrenia 15 OMIM:613950 schizophrenia susceptibility locus, chromosome 22Q13-related OMIM:613950 MONDO:0013499 Fanconi anemia complementation group P oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group P Fanconi anemia, complementation group P fanconi anemia, complementation group p OMIM:613951 fanconi anemia, complementation group p MONDO:Lexical, OMIM:613951 Fanconi anemia, complementation group P OMIM:613951 -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 5, formerly OMIM:613953 immunodeficiency 51 OMIM:613953 candidiasis, familial, 5, formerly OMIM:613953 MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 OMIM:613953 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 IMD51 OMIM:613953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 oio:hasExactSynonym oio:hasRelatedSynonym PLCA2 OMIM:613955 amyloidosis, primary localized cutaneous, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613955, MONDO:Lexical PLCA2 OMIM:613955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:613956 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym CANDF6 OMIM:613956 candidiasis, familial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613956, MONDO:Lexical CANDF6 OMIM:613956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:613956 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 OMIM:613957 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 SPGF8 OMIM:613957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, complete OMIM:613958 spermatogenic failure 9 OMIM:613958 globozoospermia, complete OMIM:613958 MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, total OMIM:613958 spermatogenic failure 9 OMIM:613958 globozoospermia, total OMIM:613958 @@ -9795,7 +9269,6 @@ MONDO:0013528 intellectual disability, autosomal recessive 14 oio:hasExactSynony MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021, MONDO:Lexical ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym CPVT3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614021, MONDO:Lexical CPVT3 OMIM:614021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013530 atrial fibrillation, familial, 10 oio:hasExactSynonym oio:hasRelatedSynonym ATFB10 OMIM:614022 atrial fibrillation, familial, 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614022, MONDO:Lexical ATFB10 OMIM:614022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:614025 HL deficiency OMIM:246450 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 HL deficiency OMIM:614025 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic lipase deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym lipc deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 lipc deficiency OMIM:614025 @@ -9835,7 +9308,6 @@ MONDO:0013557 Hermansky-Pudlak syndrome 5 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013558 Hermansky-Pudlak syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym HPS6 OMIM:614075 hermansky-pudlak syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614075, MONDO:Lexical HPS6 OMIM:614075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM:614080 glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical MCAHS1 OMIM:614080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym Ahaptoglobinemia Ahaptoglobinemia ahaptoglobinemia OMIM:614081 anhaptoglobinemia OMIM:614081 Ahaptoglobinemia OMIM:614081 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym ANHAPTOGLOBINEMIA ANHAPTOGLOBINEMIA anhaptoglobinemia OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081 ANHAPTOGLOBINEMIA OMIM:614081 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym AHP OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081, MONDO:Lexical AHP OMIM:614081 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9883,7 +9355,6 @@ MONDO:0013595 hyperbiliverdinemia oio:hasExactSynonym oio:hasRelatedSynonym HBLV MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, platelet-type, 14 OMIM:614158 bleeding disorder, platelet-type, 14 MONDO:Lexical, OMIM:614158 bleeding disorder, platelet-type, 14 OMIM:614158 MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym thromboxane synthetase deficiency OMIM:614158 bleeding disorder, platelet-type, 14 OMIM:614158 thromboxane synthetase deficiency OMIM:614158 MONDO:0013598 myostatin-related muscle hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym muscle hypertrophy OMIM:614160 muscle hypertrophy OMIM:614160, MONDO:Lexical muscle hypertrophy OMIM:614160 -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:614162 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:614162 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 7 OMIM:614162 immunodeficiency 31c OMIM:614162 candidiasis, familial, 7 OMIM:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 31C immunodeficiency 31C immunodeficiency 31c OMIM:614162 immunodeficiency 31c OMIM:614162, MONDO:Lexical immunodeficiency 31C OMIM:614162 @@ -9967,7 +9438,6 @@ MONDO:0013666 Stickler syndrome, type 5 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0013668 tetrasomy 18p oio:hasExactSynonym oio:hasRelatedSynonym Isochromosome 18P syndrome Isochromosome 18P syndrome isochromosome 18p syndrome OMIM:614290 tetrasomy 18p OMIM:614290 Isochromosome 18P syndrome OMIM:614290 MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym BROVCA4 OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614291, MONDO:Lexical BROVCA4 OMIM:614291 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym MCVD OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614292, MONDO:Lexical MCVD OMIM:614292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:614293 hydatidiform Mole, complete OMIM:231090 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform MOLE, recurrent, 2 hydatidiform MOLE, recurrent, 2 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform MOLE, recurrent, 2 OMIM:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform Mole, complete OMIM:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym HYDM2 OMIM:614293 hydatidiform mole, recurrent, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614293 HYDM2 OMIM:614293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9976,7 +9446,6 @@ MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym he MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym WFSL OMIM:614296 wolfram-like syndrome, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614296 WFSL OMIM:614296 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical MMDS2 OMIM:614299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:614302 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 7, autosomal dominant EMERY-Dreifuss muscular dystrophy 7, autosomal dominant emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 EMERY-Dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD7 OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614302, MONDO:Lexical EDMD7 OMIM:614302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013678 EDICT syndrome oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 edict syndrome OMIM:614303 endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 @@ -10052,7 +9521,6 @@ MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 oio:hasExactSynony MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL2 OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614390, MONDO:Lexical RPRGL2 OMIM:614390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL3 OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614391, MONDO:Lexical RPRGL3 OMIM:614391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 congenital myopathy 10a, severe variant OMIM:614399, MONDO:Lexical myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 -MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 congenital myopathy 10b, mild variant OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 MONDO:0013732 glucocorticoid therapy, response to oio:hasExactSynonym oio:hasRelatedSynonym GCTR OMIM:614400 glucocorticoid therapy, response to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614400 GCTR OMIM:614400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013734 microphthalmia, syndromic 11 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS11 OMIM:614402 microphthalmia, syndromic 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614402 MCOPS11 OMIM:614402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zaki-Gleeson syndrome Zaki-Gleeson syndrome zaki-gleeson syndrome OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome OMIM:614407 Zaki-Gleeson syndrome OMIM:614407 @@ -10072,12 +9540,8 @@ MONDO:0013748 ventricular septal defect 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013749 ventricular septal defect 3 oio:hasExactSynonym oio:hasRelatedSynonym VSD3 OMIM:614432 ventricular septal defect 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614432, MONDO:Lexical VSD3 OMIM:614432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013751 cutis laxa, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym ADCL2 OMIM:614434 cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614434, MONDO:Lexical ADCL2 OMIM:614434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013752 hypoplastic left heart syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HLHS2 OMIM:614435 hypoplastic left heart syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614435, MONDO:Lexical HLHS2 OMIM:614435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2G, formerly Charcot-Marie-Tooth disease, axonal, type 2G, formerly charcot-marie-tooth disease, axonal, type 2g, formerly OMIM:614436 charcot-marie-tooth disease, axonal, type 2p OMIM:614436 Charcot-Marie-Tooth disease, axonal, type 2G, formerly OMIM:614436 MONDO:0013755 PYCR1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3b OMIM:614438 cutis laxa, autosomal recessive, type 3b OMIM:614438 cutis laxa, autosomal recessive, type 3B OMIM:614438 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 PDP, autosomal recessive OMIM:259100 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 pachydermoperiostosis, autosomal recessive OMIM:259100 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 PDP, autosomal recessive OMIM:614441 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 pachydermoperiostosis, autosomal recessive OMIM:614441 MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease, dominant intermediate E charcot-marie-tooth disease, dominant intermediate e OMIM:614455 charcot-marie-tooth disease, dominant intermediate e OMIM:614455, MONDO:Lexical Charcot-Marie-Tooth disease, dominant intermediate E OMIM:614455 @@ -10099,7 +9563,6 @@ MONDO:0013768 arterial calcification, generalized, of infancy, 2 oio:hasExactSyn MONDO:0013769 atrioventricular septal defect 5 oio:hasExactSynonym oio:hasRelatedSynonym AVSD5 OMIM:614474 atrioventricular septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614474, MONDO:Lexical AVSD5 OMIM:614474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym hypertriglyceridemia, transient infantile OMIM:614480 hypertriglyceridemia, transient infantile OMIM:614480, MONDO:Lexical hypertriglyceridemia, transient infantile OMIM:614480 MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym HTGTI OMIM:614480 hypertriglyceridemia, transient infantile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614480 HTGTI OMIM:614480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:614485 craniosynostosis, metopic OMIM:190440 MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:614485 craniosynostosis, metopic OMIM:614485 MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO2 OMIM:614485 trigonocephaly 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614485 TRIGNO2 OMIM:614485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013775 thrombomodulin-related bleeding disorder oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to thrombomodulin defect OMIM:614486 thrombophilia due to thrombomodulin defect MONDO:Lexical, OMIM:614486 thrombophilia due to thrombomodulin defect OMIM:614486 @@ -10131,9 +9594,6 @@ MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSyno MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564, MONDO:Lexical cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCTCS OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614564 FCTCS OMIM:614564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:614565 Csnb, complete, autosomal recessive OMIM:257270 -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:614565 Csnb, complete, autosomal recessive OMIM:613216 -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:614565 Csnb, complete, autosomal recessive OMIM:613830 MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565 Csnb, complete, autosomal recessive OMIM:614565 MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1e OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565, MONDO:Lexical night blindness, congenital stationary, type 1E OMIM:614565 MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type multiple enchondromatosis, maffucci type OMIM:614569 multiple enchondromatosis, maffucci type OMIM:614569 multiple enchondromatosis, Maffucci type OMIM:614569 @@ -10146,7 +9606,6 @@ MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelated MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym endemic Nonfilarial elephantiasis, susceptibility to endemic Nonfilarial elephantiasis, susceptibility to endemic nonfilarial elephantiasis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 endemic Nonfilarial elephantiasis, susceptibility to OMIM:614590 MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym lymphostatic verrucosis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 lymphostatic verrucosis, susceptibility to OMIM:614590 MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BBDS BBDS bbds OMIM:614592 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614592, MONDO:Lexical BBDS OMIM:614592 -MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bent bone dysplasia syndrome bent bone dysplasia syndrome Bent bone dysplasia syndrome OMIMPS:614592 Bent bone dysplasia syndrome OMIM:614592, MONDO:Lexical bent bone dysplasia syndrome OMIMPS:614592 MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PREECLAMPSIA/eclampsia 5 PREECLAMPSIA/eclampsia 5 preeclampsia/eclampsia 5 OMIM:614595 preeclampsia/eclampsia 5 OMIM:614595 PREECLAMPSIA/eclampsia 5 OMIM:614595 MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PEE5 OMIM:614595 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614595 PEE5 OMIM:614595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013818 trichohepatoenteric syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym TRICHOHEPATOENTERIC syndrome 2 TRICHOHEPATOENTERIC syndrome 2 trichohepatoenteric syndrome 2 OMIM:614602 trichohepatoenteric syndrome 2 OMIM:614602 TRICHOHEPATOENTERIC syndrome 2 OMIM:614602 @@ -10213,7 +9672,6 @@ MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei MONDO:0013876 basal cell carcinoma, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym BCC7 OMIM:614740 basal cell carcinoma, susceptibility to, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614740, MONDO:Lexical BCC7 OMIM:614740 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013877 mitochondrial pyruvate carrier deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPYCD OMIM:614741 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614741, MONDO:Lexical MPYCD OMIM:614741 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT1 OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614742, MONDO:Lexical PFBMFT1 OMIM:614742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasBroadSynonym aplastic anemia OMIM:609135 aplastic anemia OMIM:genemap2, OMIM:614743 aplastic anemia OMIM:609135 MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT2 OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614743, MONDO:Lexical PFBMFT2 OMIM:614743 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013880 facial paresis, hereditary congenital, 3 oio:hasExactSynonym oio:hasRelatedSynonym HCFP3 OMIM:614744 facial paresis, hereditary congenital, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614744 HCFP3 OMIM:614744 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome OMIM:614748, MONDO:Lexical interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 @@ -10240,12 +9698,9 @@ MONDO:0013899 Weill-Marchesani syndrome 3 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013900 alternating hemiplegia of childhood 2 oio:hasExactSynonym oio:hasRelatedSynonym AHC2 OMIM:614820 alternating hemiplegia of childhood 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614820, MONDO:Lexical AHC2 OMIM:614820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus OMIM:614822 spermatogenic failure 10 OMIM:614822 spermatogenic failure with defective sperm annulus OMIM:614822 MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 OMIM:614822 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical SPGF10 OMIM:614822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:614823 bicuspid aortic valve OMIM:109730 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:614823 aortic valve disease 2 OMIM:614823 aortic valve stenosis OMIM:614823 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:614823 bicuspid aortic valve OMIM:614823 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym AOVD2 OMIM:614823 aortic valve disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614823, MONDO:Lexical AOVD2 OMIM:614823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:618496 aortic valve disease 3 OMIM:614823 aortic valve stenosis OMIM:618496 -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:614823 bicuspid aortic valve OMIM:618496 MONDO:0013903 nystagmus 7, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 7, congenital, autosomal dominant NYSTAGMUS 7, congenital, autosomal dominant nystagmus 7, congenital, autosomal dominant OMIM:614826 nystagmus 7, congenital, autosomal dominant MONDO:Lexical, OMIM:614826 NYSTAGMUS 7, congenital, autosomal dominant OMIM:614826 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related OMIM:614830 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 OMIM:614830 @@ -10352,11 +9807,8 @@ MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSyno MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 oio:hasExactSynonym oio:hasNarrowSynonym DFNB70 OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614934, DOID:0110521 DFNB70 OMIM:614934 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19 OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935, MONDO:Lexical ciliary dyskinesia, primary, 19 OMIM:614935 MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935 ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:614940 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD11A OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614940, MONDO:Lexical ECTD11A OMIM:614940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, anhidrotic OMIM:224900 -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, hypohidrotic OMIM:224900 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, anhidrotic OMIM:614941 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, hypohidrotic OMIM:614941 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD11B OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614941, MONDO:Lexical ECTD11B OMIM:614941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10623,7 +10075,6 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2, formerly OMIM:615486 interstitial lung and liver disease OMIM:615486 infantile liver failure syndrome 2, formerly OMIM:615486 MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, reunion island OMIM:615486 interstitial lung and liver disease OMIM:615486 pulmonary alveolar proteinosis, Reunion Island OMIM:615486 MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym ILLD OMIM:615486 interstitial lung and liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615486, MONDO:Lexical ILLD OMIM:615486 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2 OMIM:616483 infantile liver failure syndrome 2 OMIM:615486 infantile liver failure syndrome 2 OMIM:616483 MONDO:0014207 age related macular degeneration 14 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 14 OMIM:615489 macular degeneration, age-related, 14 OMIM:615489, MONDO:Lexical macular degeneration, age-related, 14 OMIM:615489 MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R charcot-marie-tooth disease, axonal, autosomal recessive, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r GARD:0012451, OMIM:615490 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R OMIM:615490 MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2R Charcot-Marie-Tooth disease, axonal, type 2R charcot-marie-tooth disease, axonal, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r MONDO:Lexical, OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R OMIM:615490 @@ -10666,7 +10117,6 @@ MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:ha MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 oio:hasExactSynonym oio:hasRelatedSynonym FECD8 OMIM:615523 corneal dystrophy, fuchs endothelial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615523 FECD8 OMIM:615523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects OMIM:615524 microphthalmia, syndromic 12 OMIM:615524 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects OMIM:615524 MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS12 OMIM:615524 microphthalmia, syndromic 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615524, MONDO:Lexical MCOPS12 OMIM:615524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:615527 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:615527 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym CANDF8 OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615527 CANDF8 OMIM:615527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014231 juvenile onset Parkinson disease 19A oio:hasExactSynonym oio:hasRelatedSynonym Park19, formerly Park19, formerly park19, formerly OMIM:615528 parkinson disease 19a, juvenile-onset OMIM:615528 Park19, formerly OMIM:615528 @@ -10709,7 +10159,6 @@ MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRela MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, normotriglyceridemic OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, Normotriglyceridemic OMIM:615558 MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, familial OMIM:615558 MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558, MONDO:Lexical hypobetalipoproteinemia, familial, 1 OMIM:615558 -MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical OFC2 OMIM:615560 MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OTFCS2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560 OTFCS2 OMIM:615560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014255 complement factor b deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement factor B deficiency OMIM:615561 complement factor B deficiency OMIM:615561 complement factor B deficiency OMIM:615561 @@ -10891,7 +10340,6 @@ MONDO:0014411 myopia 24, autosomal dominant oio:hasExactSynonym oio:hasRelatedSy MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 14 OMIM:615948 orofaciodigital syndrome 14 OMIM:615948 orofaciodigital syndrome 14 OMIM:615948 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym ADMIO1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615952 ADMIO1 OMIM:615952 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset autoimmune disease, multisystem, infantile-onset Autoimmune disease, multisystem, infantile-onset OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset MONDO:Lexical, OMIM:615952 autoimmune disease, multisystem, infantile-onset OMIMPS:615952 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 OMIM:615954 primary macronodular adrenal hyperplasia OMIM:615954 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 AIMAH2 OMIM:615954 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014417 spinocerebellar ataxia type 38 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 38 OMIM:615957 spinocerebellar ataxia 38 MONDO:Lexical, OMIM:615957 spinocerebellar ataxia 38 OMIM:615957 @@ -10917,8 +10365,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014430 intellectual disability, autosomal recessive 45 oio:hasExactSynonym oio:hasRelatedSynonym MRT45 OMIM:615979 intellectual developmental disorder, autosomal recessive 45 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615979 MRT45 OMIM:615979 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with lipe mutations OMIM:615980 lipodystrophy, familial partial, type 6 OMIM:615980 lipodystrophy, familial partial, associated with Lipe mutations OMIM:615980 MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, type 6 OMIM:615980 lipodystrophy, familial partial, type 6 MONDO:Lexical, GARD:0013126, OMIM:615980 lipodystrophy, familial partial, type 6 OMIM:615980 -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome GARD:0000821 Bardet-Biedl syndrome OMIMPS:209900 -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym euthyroid hyperthyroxinemia 1 OMIM:615999 hyperthyroxinemia, familial dysalbuminemic OMIM:615999 euthyroid hyperthyroxinemia 1 OMIM:615999 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 FDH OMIM:615999 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDAH OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615999 FDAH OMIM:615999 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11013,7 +10459,6 @@ MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2S Charcot-Marie-Tooth neuropathy, type 2S charcot-marie-tooth neuropathy, type 2s OMIM:616155 charcot-marie-tooth disease, axonal, type 2s OMIM:616155 Charcot-Marie-Tooth neuropathy, type 2S OMIM:616155 MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 aortic aneurysm, familial thoracic 9 OMIM:616166 aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym AAT9 OMIM:616166 aortic aneurysm, familial thoracic 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616166, MONDO:Lexical AAT9 OMIM:616166 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 aortic aneurysm, familial thoracic 10 OMIM:616166 aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 MONDO:0014515 macular dystrophy with central cone involvement oio:hasExactSynonym oio:hasRelatedSynonym CCMD OMIM:616170 macular dystrophy with central cone involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616170 CCMD OMIM:616170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 MONDO:Lexical, OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616171 MCCRP2 OMIM:616171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11151,7 +10596,6 @@ MONDO:0014626 spinocerebellar ataxia type 41 oio:hasExactSynonym oio:hasRelatedS MONDO:0014627 dystonia 27 oio:hasExactSynonym oio:hasRelatedSynonym DYT27 OMIM:616411 dystonia 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616411 DYT27 OMIM:616411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014628 basal ganglia calcification, idiopathic, 6 oio:hasExactSynonym oio:hasRelatedSynonym IBGC6 OMIM:616413 basal ganglia calcification, idiopathic, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616413 IBGC6 OMIM:616413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome oio:hasExactSynonym oio:hasRelatedSynonym autoimmune interstitial lung, joint, and kidney disease OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation MONDO:Lexical, OMIM:616414 autoimmune interstitial lung, joint, and kidney disease OMIM:616414 -MONDO:0014631 hypomagnesemia, seizures, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR HOMGSMR homgsmr OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616418, MONDO:Lexical HOMGSMR OMIM:616418 MONDO:0014632 hypomyelinating leukodystrophy 10 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 10 OMIM:616420 leukodystrophy, hypomyelinating, 10 MONDO:Lexical, OMIM:616420 leukodystrophy, hypomyelinating, 10 OMIM:616420 MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 10 46,XY SEX reversal 10 46,xy sex reversal 10 OMIM:616425 46,xy sex reversal 10 OMIM:616425 46,XY SEX reversal 10 OMIM:616425 MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17Q24 deletion syndrome chromosome 17Q24 deletion syndrome chromosome 17q24 deletion syndrome OMIM:616425 46,xy sex reversal 10 OMIM:616425 chromosome 17Q24 deletion syndrome OMIM:616425 @@ -11190,7 +10634,6 @@ MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2V Charcot-Marie-Tooth disease, axonal, type 2V charcot-marie-tooth disease, axonal, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491, MONDO:Lexical Charcot-Marie-Tooth disease, axonal, type 2V OMIM:616491 MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2V Charcot-Marie-Tooth neuropathy, type 2V charcot-marie-tooth neuropathy, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491 Charcot-Marie-Tooth neuropathy, type 2V OMIM:616491 MONDO:0014666 hypomyelinating leukodystrophy 11 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 11 OMIM:616494 leukodystrophy, hypomyelinating, 11 OMIM:616494, MONDO:Lexical leukodystrophy, hypomyelinating, 11 OMIM:616494 -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 OMIM:616502 retinal dystrophy with early macular involvement OMIM:614500 MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 OMIM:616502 retinal dystrophy with early macular involvement OMIM:616502 MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym CORD21 OMIM:616502 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616502, MONDO:Lexical CORD21 OMIM:616502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014670 lethal congenital contracture syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym LCCS9 OMIM:616503 lethal congenital contracture syndrome 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616503 LCCS9 OMIM:616503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11279,7 +10722,6 @@ MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome oi MONDO:0014765 wooly hair, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 woolly hair, autosomal recessive 3 http://purl.obolibrary.org/obo/OMO_0003005 woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym LDAMD OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616763 LDAMD OMIM:616763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014769 inherited oocyte maturation defect oio:hasExactSynonym oio:hasRelatedSynonym OOMD OOMD oomd OMIM:615774 oocyte/zygote/embryo maturation arrest 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616780 OOMD OMIM:615774 MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive facial features with or without cardiac defects OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616789 mental retardation and distinctive FACIAL features with or without CARDIAC defects OMIM:616789 MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 OMIM:616809 glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Birk-Flusser syndrome Birk-Flusser syndrome birk-flusser syndrome OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM:616819 Birk-Flusser syndrome OMIM:616819 @@ -11307,7 +10749,6 @@ MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfan-progeroid-lipodystrophy syndrome Marfan-progeroid-lipodystrophy syndrome marfan-progeroid-lipodystrophy syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 Marfan-progeroid-lipodystrophy syndrome OMIM:616914 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfanoid-progeroid syndrome Marfanoid-progeroid syndrome marfanoid-progeroid syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 Marfanoid-progeroid syndrome OMIM:616914 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym MFLS OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616914 MFLS OMIM:616914 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014835 striatal degeneration, autosomal dominant 2 oio:hasExactSynonym oio:hasBroadSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant OMIM:genemap2, OMIM:616922 striatal degeneration, autosomal dominant OMIMPS:609161 MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2CC Charcot-Marie-Tooth disease, axonal, type 2CC charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC OMIM:616924 MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Cc Charcot-Marie-Tooth neuropathy, type 2Cc charcot-marie-tooth neuropathy, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 Charcot-Marie-Tooth neuropathy, type 2Cc OMIM:616924 MONDO:0014837 thrombocytopenia 6 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, autosomal dominant, 6 OMIM:616937 thrombocytopenia 6 OMIM:616937 thrombocytopenia, autosomal dominant, 6 OMIM:616937 @@ -11347,7 +10788,6 @@ MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym inte MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 intellectual developmental disorder with persistence of fetal Hemoglobin OMIM:617101 MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome thauvin-robinet-faivre syndrome OMIM:617107 thauvin-robinet-faivre syndrome OMIM:617107 THAUVIN-robinet-Faivre syndrome OMIM:617107 MONDO:0014922 myofibrillar myopathy 7 oio:hasExactSynonym oio:hasRelatedSynonym MFM7 OMIM:617114 myopathy, myofibrillar, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617114 MFM7 OMIM:617114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014926 Bardet-Biedl syndrome 22 oio:hasExactSynonym oio:hasRelatedSynonym BBS20 OMIM:619471 bardet-biedl syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617119 BBS20 OMIM:619471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym Ofds 15 Ofds 15 ofds 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 Ofds 15 OMIM:617127 MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 15 oral-Facial-digital syndrome, type 15 oral-facial-digital syndrome, type 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 oral-Facial-digital syndrome, type 15 OMIM:617127 MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 @@ -11386,10 +10826,6 @@ MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudocholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency OMIM:617936, GARD:0007482 pseudocholinesterase deficiency OMIM:617936 MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym BCHED OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617936 BCHED OMIM:617936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015278 familial pancreatic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic acinar carcinoma OMIM:260350 pancreatic cancer OMIM:260350 pancreatic acinar carcinoma OMIM:260350 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym Fav sequence Fav sequence fav sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 Fav sequence OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym facioauriculovertebral sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 facioauriculovertebral sequence OMIM:164210 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 Dent disease 1 dent disease 1 OMIM:300009 dent disease 1 DOID:0050699 Dent disease 1 OMIM:300009 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 Dent disease 2 dent disease 2 OMIM:300555 dent disease 2 DOID:0050699 Dent disease 2 OMIM:300555 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Alport syndrome with macrothrombocytopenia, formerly Alport syndrome with macrothrombocytopenia, formerly alport syndrome with macrothrombocytopenia, formerly OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 Alport syndrome with macrothrombocytopenia, formerly OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Dohle leukocyte inclusions with giant platelets Dohle leukocyte inclusions with giant platelets dohle leukocyte inclusions with giant platelets OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 Dohle leukocyte inclusions with giant platelets OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 6 bleeding disorder, Platelet-type, 6 bleeding disorder, platelet-type, 6 OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 bleeding disorder, Platelet-type, 6 OMIM:155100 @@ -11398,8 +10834,6 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, and deafness OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153650 macrothrombocytopenia, nephritis, and deafness OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym MATINS matins MATINS OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155100 MATINS OMIM:155100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical FMD OMIM:305620 -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency OMIM:215700 citrullinemia, classic DOID:9273 ass deficiency OMIM:215700 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, ocular-scoliotic type ehlers-danlos syndrome, ocular-scoliotic type OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400, MESH:C536198 Ehlers-Danlos syndrome, ocular-scoliotic type OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type VIA, formerly ehlers-danlos syndrome, type via, formerly OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 MESH:C536198 Ehlers-Danlos syndrome, type VIA, formerly OMIM:225400 @@ -11413,16 +10847,11 @@ MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym o MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 3 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500 olivopontocerebellar atrophy 3 OMIM:164500 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 7 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500, MONDO:Lexical spinocerebellar ataxia 7 OMIM:164500 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hirschsprung disease with type D brachydactyly Hirschsprung disease with type D brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly OMIM:306980 Hirschsprung disease with type D brachydactyly OMIM:306980 -MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym HYC3 OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYC3 OMIM:617967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Poikiloderma Atrophicans and Cataract Poikiloderma Atrophicans and Cataract poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 Poikiloderma Atrophicans and Cataract OMIM:618625 MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym ROTHMUND-THOMSON SYNDROME, TYPE 1 ROTHMUND-THOMSON SYNDROME, TYPE 1 rothmund-thomson syndrome, type 1 OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 ROTHMUND-THOMSON SYNDROME, TYPE 1 OMIM:618625 MONDO:0016419 hereditary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast cancer, familial OMIM:114480 breast cancer OMIM:114480 breast cancer, familial OMIM:114480 MONDO:0016532 Lennox-Gastaut syndrome oio:hasExactSynonym oio:hasRelatedSynonym macrocephaly and epileptic encephalopathy OMIM:606369 macrocephaly and epileptic encephalopathy OMIM:606369 macrocephaly and epileptic encephalopathy OMIM:606369 MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym CTHM OMIM:217095 conotruncal heart malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:217095 CTHM OMIM:217095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100, MONDO:Lexical hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100, MONDO:Lexical PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 OMIM:136760 frontonasal dysplasia 1 NCIT:C129028 frontonasal dysplasia 1 OMIM:136760 -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C129028 FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym epiphyseal dysplasia, multiple epiphyseal dysplasia, multiple Epiphyseal dysplasia, multiple OMIMPS:132400 Epiphyseal dysplasia, multiple OMIMPS:132400, GARD:0010756 epiphyseal dysplasia, multiple OMIMPS:132400 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 10 OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370, MONDO:Lexical arthrogryposis, distal, type 10 OMIM:187370 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital plantar contractures OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370 congenital plantar contractures OMIM:187370 @@ -11434,17 +10863,10 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym cholestasis with peripheral pulmonary stenosis OMIM:118450 alagille syndrome 1 OMIM:118450 cholestasis with peripheral pulmonary stenosis OMIM:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym hepatic ductular hypoplasia, syndromatic OMIM:118450 alagille syndrome 1 OMIM:118450 hepatic ductular hypoplasia, syndromatic OMIM:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym ALGS1 OMIM:118450 alagille syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118450, MONDO:Lexical ALGS1 OMIM:118450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym MMDS MMDS mmds OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical MMDS OMIM:605711 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 mitchell-riley syndrome OMIM:615710 diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTCHRS OMIM:615710 mitchell-riley syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615710, MONDO:Lexical MTCHRS OMIM:615710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fryns-Aftimos syndrome Fryns-Aftimos syndrome fryns-aftimos syndrome OMIM:243310 baraitser-winter syndrome 1 GARD:0005279 Fryns-Aftimos syndrome OMIM:243310 MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional epidermolysis bullosa, junctional Epidermolysis bullosa, junctional OMIMPS:226650 Epidermolysis bullosa, junctional GARD:0002152 epidermolysis bullosa, junctional OMIMPS:226650 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis et progressiva OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 GARD:0003096, MESH:C536154 erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia, progressive symmetric OMIM:133200 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva OMIMPS:133200 -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym BEEC OMIM:600057 bladder exstrophy and epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:322 BEEC OMIM:600057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym Young female arteritis Young female arteritis young female arteritis OMIM:207600 takayasu arteritis OMIM:207600 Young female arteritis OMIM:207600 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease OMIM:207600 takayasu arteritis OMIM:207600 pulseless disease OMIM:207600 MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym oio:hasRelatedSynonym atrial fibrillation, familial atrial fibrillation, familial Atrial fibrillation, familial OMIMPS:608583 Atrial fibrillation, familial GARD:0009740, OMIMPS:608583 atrial fibrillation, familial OMIMPS:608583 @@ -11475,13 +10897,7 @@ MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding di MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym sclerosing cholangitis, neonatal OMIM:617394 sclerosing cholangitis, neonatal OMIM:617394 sclerosing cholangitis, neonatal OMIM:617394 MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym NSC OMIM:617394 sclerosing cholangitis, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617394 NSC OMIM:617394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym PTORCH2 OMIM:617397 pseudo-torch syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617397 PTORCH2 OMIM:617397 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata MESH:C537412 Atrophodermia reticulata symmetrica faciei OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata MESH:C537412 Atrophodermia vermiculata OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis ulerythematosa reticulata OMIM:209700 atrophoderma vermiculata MESH:C537412 folliculitis ulerythematosa reticulata OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym honeycomb atrophy OMIM:209700 atrophoderma vermiculata MESH:C537412 honeycomb atrophy OMIM:209700 MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym KPA OMIM:604093 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604093 KPA OMIM:604093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 GARD:0000575 pseudotoxoplasmosis syndrome OMIM:225750 -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS AGS ags OMIM:225750 aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 AGS OMIM:225750 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myelogenous OMIM:601626 leukemia, acute myeloid OMIM:601626 leukemia, acute myelogenous OMIM:601626 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myeloid OMIM:601626 leukemia, acute myeloid MONDO:Lexical, OMIM:601626 leukemia, acute myeloid OMIM:601626 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and fraumeni OMIM:151623 li-fraumeni syndrome OMIM:151623 sarcoma family syndrome of 51 and Fraumeni OMIM:151623 @@ -11493,7 +10909,6 @@ MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRela MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym McLeod phenotype McLeod phenotype mcleod phenotype OMIM:300842 mcleod syndrome OMIM:300842 McLeod phenotype OMIM:300842 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis, McLeod type neuroacanthocytosis, McLeod type neuroacanthocytosis, mcleod type OMIM:300842 mcleod syndrome OMIM:300842 neuroacanthocytosis, McLeod type OMIM:300842 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCLDS OMIM:300842 mcleod syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300842, MONDO:Lexical MCLDS OMIM:300842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy OMIMPS:254130 Miyoshi muscular dystrophy DOID:11720 Miyoshi muscular dystrophy OMIMPS:254130 MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria methylcrotonylglycinuria Methylcrotonylglycinuria OMIMPS:210200 Methylcrotonylglycinuria OMIMPS:210200 methylcrotonylglycinuria OMIMPS:210200 MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym MYOTONIA, POTASSIUM-AGGRAVATED MYOTONIA, POTASSIUM-AGGRAVATED myotonia, potassium-aggravated OMIM:608390 myotonia, potassium-aggravated OMIM:608390 MYOTONIA, POTASSIUM-AGGRAVATED OMIM:608390 MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Congenita, Acetazolamide-Responsive Myotonia Congenita, Acetazolamide-Responsive myotonia congenita, acetazolamide-responsive OMIM:608390 myotonia, potassium-aggravated OMIM:608390 Myotonia Congenita, Acetazolamide-Responsive OMIM:608390 @@ -11509,26 +10924,20 @@ MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym oio:hasBroadSyno MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulonephritis with sparse hair and telangiectases OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 glomerulonephritis with sparse hair and telangiectases OMIM:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectatic membranoproliferative glomerulonephritis OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 telangiectatic membranoproliferative glomerulonephritis OMIM:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 HLTRS OMIM:137940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 MESH:C535313 Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RH-null, regulator type RH-null, regulator type rh-null, regulator type OMIM:268150 rh-null, regulator type OMIM:268150, MONDO:Lexical RH-null, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null disease, regulator type Rh-null disease, regulator type rh-null disease, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 Rh-null disease, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null hemolytic Anemia, regulator type Rh-null hemolytic Anemia, regulator type rh-null hemolytic anemia, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 Rh-null hemolytic Anemia, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHNR OMIM:268150 rh-null, regulator type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268150 RHNR OMIM:268150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019111 familial thrombocytosis oio:hasExactSynonym oio:hasRelatedSynonym thrombocythemia thrombocythemia Thrombocythemia OMIMPS:187950 Thrombocythemia OMIMPS:187950 thrombocythemia OMIMPS:187950 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency OMIMPS:278000 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency OMIMPS:278000 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD OMIM:278000 cholesteryl ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 CESD OMIM:278000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym AR deficiency AR deficiency ar deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 AR deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym DHTR deficiency DHTR deficiency dhtr deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 DHTR deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym androgen receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 androgen receptor deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym dihydrotestosterone receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 dihydrotestosterone receptor deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS OMIM:300068 androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS OMIM:300068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 NCIT:C123252 Gordon syndrome OMIM:114300 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym oio:hasRelatedSynonym RSTS RSTS rsts OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007593 RSTS OMIM:180849 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome OMIM:214100 MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome GARD:0010341, OMIMPS:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, juvenile OMIM:259750 osteoporosis, juvenile OMIM:259750 osteoporosis, juvenile OMIM:259750 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE OMIM:618398 -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome OMIM:500004 retinitis pigmentosa-deafness syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome OMIM:500004 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY hemolytic anemia due to glutathione reductase deficiency OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 OMIM:618660 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM:618660 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDS II, formerly EDS II, formerly eds ii, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 EDS II, formerly OMIM:130010 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers Danlos syndrome, mild Classic type, formerly Ehlers Danlos syndrome, mild Classic type, formerly ehlers Danlos syndrome, mild classic type, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 Ehlers Danlos syndrome, mild Classic type, formerly OMIM:130010 @@ -11540,25 +10949,18 @@ MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym o MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive OMIM:607197 deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 deafness, autosomal recessive OMIM:607197 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive deafness, autosomal recessive Deafness, autosomal recessive OMIMPS:220290 Deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 deafness, autosomal recessive OMIMPS:220290 MONDO:0019623 hereditary angioedema oio:hasExactSynonym oio:hasRelatedSynonym angioedema, hereditary angioedema, hereditary Angioedema, Hereditary OMIMPS:106100 Angioedema, Hereditary GARD:0005979 angioedema, hereditary OMIMPS:106100 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia OMIM:607086 aortic aneurysm, familial thoracic 1 Orphanet:229 annuloaortic ectasia OMIM:607086 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, Pakistani type SEMD, Pakistani type semd, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 SEMD, Pakistani type OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes MONDO:Lexical, OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplasia and premature pubarche OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 spondylodysplasia and premature pubarche OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym BCYM4 OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612847, MONDO:Lexical BCYM4 OMIM:612847 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 SEMDJL1 OMIM:271640 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome mulchandani-bhoj-conlin syndrome OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 MULCHANDANI-BHOJ-CONLIN syndrome OMIM:617352 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym uniparental disomy, maternal, chromosome 20 OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 uniparental disomy, maternal, chromosome 20 OMIM:617352 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS OMIM:617352 mulchandani-bhoj-conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 MBCS OMIM:617352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym anemia, autoimmune hemolytic OMIM:205700 anemia, autoimmune hemolytic OMIM:205700 anemia, autoimmune hemolytic OMIM:205700 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect OMIM:606215 atrioventricular septal defect DOID:0050651 atrioventricular canal defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect OMIM:606215 atrioventricular septal defect Orphanet:98722 atrioventricular septal defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect OMIM:606215 atrioventricular septal defect DOID:0050651 endocardial cushion defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD OMIM:606215 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD OMIM:606215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect Orphanet:98722 atrioventricular septal defect OMIMPS:606215 MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar ataxia OMIMPS:164400 Spinocerebellar ataxia DOID:1441 spinocerebellar ataxia OMIMPS:164400 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency molybdenum cofactor deficiency Molybdenum cofactor deficiency OMIMPS:252150 Molybdenum cofactor deficiency OMIMPS:252150 molybdenum cofactor deficiency OMIMPS:252150 MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHOL OMIM:617507 peho-like syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617507 PEHOL OMIM:617507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 Cree leukoencephalopathy OMIM:620315 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome Golabi-Rosen syndrome golabi-rosen syndrome OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 Golabi-Rosen syndrome OMIM:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sgbs Sgbs sgbs OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 Sgbs OMIM:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Simpson-Golabi-Behmel syndrome, type 1 Simpson-Golabi-Behmel syndrome, type 1 simpson-golabi-behmel syndrome, type 1 OMIM:312870 simpson-golabi-behmel syndrome, type 1 MONDO:Lexical, OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1 OMIM:312870 @@ -11566,13 +10968,11 @@ MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasR MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 OMIM:177200 Liddle syndrome OMIM:177200 MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Pseudoaldosteronism Pseudoaldosteronism pseudoaldosteronism OMIM:177200 liddle syndrome 1 OMIM:177200 Pseudoaldosteronism OMIM:177200 MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LIDLS1 OMIM:177200 liddle syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:177200 LIDLS1 OMIM:177200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome OMIM:177200 Liddle syndrome OMIMPS:177200 MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 oio:hasExactSynonym oio:hasRelatedSynonym MGRISCE2 OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618097 MGRISCE2 OMIM:618097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym multisynostotic osteodysgenesis with long bone fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 multisynostotic osteodysgenesis with long bone fractures OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym osteodysgenesis, multisynostotic, with fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 osteodysgenesis, multisynostotic, with fractures OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 trapezoidocephaly-synostosis Syndrome OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym ABS2 OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:207410 ABS2 OMIM:207410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:229200 brittle cornea syndrome 1 OMIM:601776 Ehlers-Danlos syndrome, type Vib, formerly OMIM:229200 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Arthrogryposis, Distal, with peculiar facies and hydronephrosis Arthrogryposis, Distal, with peculiar facies and hydronephrosis arthrogryposis, distal, with peculiar facies and hydronephrosis OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Arthrogryposis, Distal, with peculiar facies and hydronephrosis OMIM:601776 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Dundar syndrome Dundar syndrome dundar syndrome OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Dundar syndrome OMIM:601776 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, musculocontractural type, 1 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type, 1 OMIM:601776 @@ -11588,7 +10988,6 @@ MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, periodontosis type Ehlers-Danlos syndrome, periodontosis type ehlers-danlos syndrome, periodontosis type OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 Ehlers-Danlos syndrome, periodontosis type OMIM:130080 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type 8 Ehlers-Danlos syndrome, type 8 ehlers-danlos syndrome, type 8 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 Ehlers-Danlos syndrome, type 8 OMIM:130080 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSPD1 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130080 EDSPD1 OMIM:130080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis OMIM:122600 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym vertebral anomalies OMIM:277300 spondylocostal dysostosis 1, autosomal recessive OMIM:277300 vertebral anomalies OMIM:277300 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis OMIM:277300 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysplasia OMIM:277300 @@ -11606,7 +11005,6 @@ MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelated MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary iron-loading Anemia hereditary iron-loading Anemia hereditary iron-loading anemia OMIM:300751 anemia, sideroblastic, 1 OMIM:300751 hereditary iron-loading Anemia OMIM:300751 MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym SIDBA1 OMIM:300751 anemia, sideroblastic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300751 SIDBA1 OMIM:300751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym urolithiasis, calcium oxalate OMIM:167030 nephrolithiasis, calcium oxalate, 1 DOID:585, OMIM:167030 urolithiasis, calcium oxalate OMIM:167030 -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis, calcium oxalate nephrolithiasis, calcium oxalate Nephrolithiasis, calcium oxalate OMIMPS:167030 Nephrolithiasis, calcium oxalate OMIM:167030, DOID:585 nephrolithiasis, calcium oxalate OMIMPS:167030 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-alpha, 25-hydroxyvitamin d3 deficiency, selective OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective OMIM:264700 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha-Hydroxylase deficiency 1-Alpha-Hydroxylase deficiency 1-alpha-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 1-Alpha-Hydroxylase deficiency OMIM:264700 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 25-hydroxycholecalciferol-1-Hydroxylase deficiency OMIM:264700 @@ -11620,7 +11018,6 @@ MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelat MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cerebral capillary malformations OMIM:116860 MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIM:116860 MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIMPS:116860 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mckd Mckd mckd OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 Mckd OMIM:174000 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidneys, medullary type OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 polycystic kidneys, medullary type OMIM:174000 MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 OMIM:616045 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 COXPD22 OMIM:616045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11630,7 +11027,6 @@ MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym re MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym RHUC1 OMIM:220150 hypouricemia, renal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220150, MONDO:Lexical RHUC1 OMIM:220150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia 1, autosomal recessive OMIM:601495 agammaglobulinemia 1, autosomal recessive MONDO:Lexical, OMIM:601495 agammaglobulinemia 1, autosomal recessive OMIM:601495 MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to ighm defect OMIM:601495 agammaglobulinemia 1, autosomal recessive OMIM:601495 agammaglobulinemia, autosomal recessive, due to IGHM defect OMIM:601495 -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome carpal tunnel syndrome Carpal tunnel syndrome OMIMPS:115430 Carpal tunnel syndrome OMIM:115430 carpal tunnel syndrome OMIMPS:115430 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Cushing symphalangism Cushing symphalangism cushing symphalangism OMIM:185800 symphalangism, proximal, 1a OMIM:185800 Cushing symphalangism OMIM:185800 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Sym1 Sym1 sym1 OMIM:185800 symphalangism, proximal, 1a OMIM:185800 Sym1 OMIM:185800 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 hereditary absence of the proximal interphalangeal joints OMIM:185800 @@ -11668,29 +11064,23 @@ MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 1 CONE-ROD DYSTROPHY AND HEARING LOSS 1 cone-rod dystrophy and hearing loss 1 OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS 1 OMIM:617236 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym Crdhl Crdhl crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 Crdhl OMIM:617236 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL1 OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617236 CRDHL1 OMIM:617236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss OMIM:617236, OMIM:genemap2 cone-rod dystrophy and hearing loss OMIMPS:617236 MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 2 CONE-ROD DYSTROPHY AND HEARING LOSS 2 cone-rod dystrophy and hearing loss 2 OMIM:618358 cone-rod dystrophy and hearing loss 2 OMIM:618358 CONE-ROD DYSTROPHY AND HEARING LOSS 2 OMIM:618358 MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL2 OMIM:618358 cone-rod dystrophy and hearing loss 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618358 CRDHL2 OMIM:618358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 OMIM:617186 MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym PEBEL1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617186 PEBEL1 OMIM:617186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasBroadSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM:617186, OMIM:genemap2 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354 Capillary Malformation-Arteriovenous Malformation OMIM:608354 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354 Capillary Malformation-Arteriovenous Malformation OMIMPS:608354 MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 capillary malformation-arteriovenous malformation 2 OMIM:618196 capillary malformation-arteriovenous malformation 2 OMIM:618196 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 OMIM:618196 MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CMAVM2 OMIM:618196 capillary malformation-arteriovenous malformation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618196 CMAVM2 OMIM:618196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 hypomagnesemia, seizures, and mental retardation 1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 OMIM:616418 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 OMIM:616418 MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616418 HOMGSMR1 OMIM:616418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasBroadSynonym hypomagnesemia, seizures, and mental retardation hypomagnesemia, seizures, and mental retardation Hypomagnesemia, seizures, and mental retardation OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation OMIM:genemap2, OMIM:616418 hypomagnesemia, seizures, and mental retardation OMIMPS:616418 MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR2 OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618314 HOMGSMR2 OMIM:618314 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 OMIM:251290 pseudo-TORCH syndrome OMIM:251290 -MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome OMIM:251290 pseudo-TORCH syndrome OMIMPS:251290 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym CORNEAL DYSTROPHY, MEESMANN, 1 CORNEAL DYSTROPHY, MEESMANN, 1 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 CORNEAL DYSTROPHY, MEESMANN, 1 OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Juvenile Epithelial, of Meesmann Corneal Dystrophy, Juvenile Epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Corneal Dystrophy, Juvenile Epithelial, of Meesmann OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Meesmann Epithelial Corneal Dystrophy, Meesmann Epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Corneal Dystrophy, Meesmann Epithelial OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Meesmann Corneal Dystrophy OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym MECD1 OMIM:122100 corneal dystrophy, meesmann, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122100 MECD1 OMIM:122100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 oculopharyngodistal myopathy OMIM:164310 -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy OMIMPS:164310 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym oio:hasRelatedSynonym BCH BCH bch OMIM:118700 chorea, benign hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 BCH OMIM:118700 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome amish brittle hair brain syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 Amish brittle hair brain syndrome OMIM:234050 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome BIDS syndrome bids syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 BIDS syndrome OMIM:234050 @@ -11703,7 +11093,6 @@ MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRela MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRelatedSynonym albinism, ocular, type 1 OMIM:300500 albinism, ocular, type 1 OMIM:300500 albinism, ocular, type 1 OMIM:300500 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia OMIMPS:149400 Hyperekplexia Orphanet:3197 hyperekplexia OMIMPS:149400 MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:118900 -MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:215600 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym APMR APMR apmr OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203650 APMR OMIM:203650 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 adenomatous polyposis of the colon OMIM:175100 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym familial polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 familial polyposis of the colon OMIM:175100 @@ -11720,7 +11109,6 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 disseminated sclerosis OMIM:126200 MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical multiple sclerosis, susceptibility to OMIM:126200 MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200, MONDO:Lexical MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to multiple sclerosis, susceptibility to Multiple sclerosis, susceptibility to OMIMPS:126200 Multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical multiple sclerosis, susceptibility to OMIMPS:126200 MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA central centrifugal cicatricial alopecia OMIM:618352 central centrifugal cicatricial alopecia OMIM:618352 CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA OMIM:618352 MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CCCA OMIM:618352 central centrifugal cicatricial alopecia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618352 CCCA OMIM:618352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hair defect with photosensitivity and mental retardation OMIM:234030 hair defect with photosensitivity and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:234030 hair defect with photosensitivity and mental retardation OMIM:234030 @@ -11734,9 +11122,6 @@ MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid hypoplasia OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyroid hypoplasia OMIM:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid, ectopic OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyroid, ectopic OMIM:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyrotropin resistance OMIM:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:218700 thyrotropin resistance OMIM:275200 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 resistance to thyrotropin OMIM:609893 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 thyrotropin resistance OMIM:609893 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Drs Drs drs OMIM:126800 duane retraction syndrome 1 OMIM:126800 Drs OMIM:126800 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 OMIM:126800 Duane anomaly OMIM:126800 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 Duane syndrome OMIM:126800 @@ -11750,7 +11135,6 @@ MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExact MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 Robinow dwarfism OMIM:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 acral dysostosis with Facial and genital abnormalities OMIM:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 fetal face syndrome OMIM:180700 -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma MESH:C535535, OMIM:601631 iris hypoplasia with glaucoma OMIM:308500 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym glaucoma iridogoniodysplasia, familial OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 glaucoma iridogoniodysplasia, familial OMIM:601631 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 iris hypoplasia with glaucoma OMIM:601631 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym neuroaxonal dystrophy, infantile OMIM:256600 neurodegeneration with brain iron accumulation 2a OMIM:256600 neuroaxonal dystrophy, infantile OMIM:256600 @@ -11768,7 +11152,6 @@ MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 OMIM:100300 congenital scalp defects with distal limb reduction anomalies OMIM:100300 MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100300 AOS OMIM:100300 MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasRelatedSynonym aniridia II, formerly aniridia II, formerly aniridia ii, formerly OMIM:106210 aniridia 1 OMIM:106210 aniridia II, formerly OMIM:106210 -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia aniridia Aniridia OMIMPS:106210 Aniridia OMIM:106210, OMIM:genemap2 aniridia OMIMPS:106210 MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 neurilemmomatosis, congenital cutaneous OMIM:162091 MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 hereditary renal aplasia OMIM:191830 MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 renal adysplasia OMIM:191830 @@ -11779,21 +11162,16 @@ MONDO:0024521 aortic aneurysm, familial abdominal, 1 oio:hasExactSynonym oio:has MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial cutaneous lichen OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 amyloidosis, familial cutaneous lichen OMIM:105250 MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym lichen amyloidosis, familial OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 lichen amyloidosis, familial OMIM:105250 MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA OMIM:105250 -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic stenosis, calcific OMIM:109730 aortic valve disease 1 OMIM:109730 aortic stenosis, calcific OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve disease OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, bicuspid OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve, bicuspid OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, calcification of OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve, calcification of OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:109730 bicuspid aortic valve OMIM:109730 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:109730 bicuspid aortic valve OMIM:614823 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:109730 bicuspid aortic valve OMIM:618496 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease aortic valve disease Aortic valve disease OMIMPS:109730 Aortic valve disease OMIM:109730 aortic valve disease OMIMPS:109730 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome Fanconi renotubular syndrome fanconi renotubular syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Fanconi renotubular syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi syndrome without cystinosis Fanconi syndrome without cystinosis fanconi syndrome without cystinosis OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Fanconi syndrome without cystinosis OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Luder-Sheldon syndrome Luder-Sheldon syndrome luder-sheldon syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Luder-Sheldon syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome adult Fanconi syndrome adult fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 adult Fanconi syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal Fanconi syndrome renal Fanconi syndrome renal fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 renal Fanconi syndrome OMIM:134600 -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome OMIMPS:134600 Fanconi renotubular syndrome OMIM:134600 Fanconi renotubular syndrome OMIMPS:134600 MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 Laband syndrome OMIM:135500 MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly OMIM:135500 MONDO:0024527 glomerulopathy with fibronectin deposits 1 oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950 glomerulopathy with giant fibrillar deposits OMIM:137950 @@ -11811,15 +11189,11 @@ MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Beth MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasBroadSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810 Bethlem myopathy 1 OMIM:158810 MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, benign congenital OMIM:158810 bethlem myopathy 1a OMIM:158810 muscular dystrophy, benign congenital OMIM:158810 MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym myopathy, benign congenital, with contractures OMIM:158810 bethlem myopathy 1a OMIM:158810 myopathy, benign congenital, with contractures OMIM:158810 -MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy OMIMPS:158810 Bethlem myopathy OMIM:158810 Bethlem myopathy OMIMPS:158810 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 myopathy, tubular aggregate OMIM:160565 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 tubular aggregate myopathy OMIM:160565 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565 TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate myopathy, tubular aggregate Myopathy, tubular aggregate OMIMPS:160565 Myopathy, tubular aggregate OMIM:160565 myopathy, tubular aggregate OMIMPS:160565 -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OFC1 OMIM:119530 orofacial cleft 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OFC1 OMIM:119530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OFC OFC ofc OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OFC OMIM:166780 MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OTFCS OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OTFCS OMIM:166780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym otofaciocervical syndrome otofaciocervical syndrome Otofaciocervical syndrome OMIMPS:166780 Otofaciocervical syndrome OMIM:166780, OMIM:genemap2 otofaciocervical syndrome OMIMPS:166780 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary arterial hypertension OMIM:178600 pulmonary hypertension, primary, 1 OMIM:178600 pulmonary arterial hypertension OMIM:178600 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHT PHT pht OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 PHT OMIM:178600 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PPH1 OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 PPH1 OMIM:178600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11844,12 +11218,10 @@ MONDO:0024538 basal ganglia calcification, idiopathic, 1 oio:hasExactSynonym oio MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal dystrophy, central areolar OMIM:215500 MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal sclerosis OMIM:215500 MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215500 CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar choroidal dystrophy, central areolar Choroidal dystrophy, central areolar OMIMPS:215500 Choroidal dystrophy, central areolar OMIM:215500 choroidal dystrophy, central areolar OMIMPS:215500 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Surdo-Cardiac syndrome Surdo-Cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 Surdo-Cardiac syndrome OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 deafness, congenital, and functional heart disease OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400 JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Jervell and Lange-Nielsen syndrome OMIMPS:220400 Jervell and Lange-Nielsen syndrome OMIM:genemap2, OMIM:220400 Jervell and Lange-Nielsen syndrome OMIMPS:220400 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym The syndrome The syndrome the syndrome OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 The syndrome OMIM:222470 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, syndromic OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 diarrhea, syndromic OMIM:222470 @@ -11865,7 +11237,6 @@ MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility OMIM:229200 brittle cornea syndrome 1 OMIM:229200 corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility OMIM:229200 MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym dysgenesis Mesodermalis corneae Et sclerae dysgenesis Mesodermalis corneae Et sclerae dysgenesis mesodermalis corneae et sclerae OMIM:229200 brittle cornea syndrome 1 OMIM:229200 dysgenesis Mesodermalis corneae Et sclerae OMIM:229200 MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:229200 BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:229200 Ehlers-Danlos syndrome, type Vib, formerly OMIM:601776 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 MIYOSHI muscular dystrophy 1 OMIM:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy Miyoshi myopathy miyoshi myopathy OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 Miyoshi myopathy OMIM:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 @@ -11875,8 +11246,6 @@ MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 Touraine-Solente-Gole syndrome OMIM:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 pachydermoperiostosis, autosomal recessive OMIM:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100 PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 PDP, autosomal recessive OMIM:614441 -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 pachydermoperiostosis, autosomal recessive OMIM:614441 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pagen Pagen pagen OMIM:260370 pancreatic agenesis 1 OMIM:260370 Pagen OMIM:260370 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic hypoplasia, congenital OMIM:260370 pancreatic agenesis 1 OMIM:260370 pancreatic hypoplasia, congenital OMIM:260370 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260370 PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11885,7 +11254,6 @@ MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym skin peeling, familial continuous generalized OMIM:270300 peeling skin syndrome 1 OMIM:270300 skin peeling, familial continuous generalized OMIM:270300 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS OMIM:270300 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 OMIM:270300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS OMIM:601224 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 FRONTOMETAPHYSEAL dysplasia 1 OMIM:305620 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Fmd Fmd fmd OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 Fmd OMIM:305620 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD1 OMIM:305620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11909,7 +11277,6 @@ MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasEx MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM:600462 mitochondrial myopathy and sideroblastic anemia OMIM:600462 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 MLASA1 OMIM:600462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 D2HGA1 OMIM:600721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria OMIMPS:600721 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 D-2-hydroxyglutaric aciduria OMIMPS:600721 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Lvm Lvm lvm OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Lvm OMIM:604004 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease Van Der Knaap disease van der knaap disease OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Van Der Knaap disease OMIM:604004 @@ -11919,7 +11286,6 @@ MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:h MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 epilepsy, familial focal, with variable foci OMIM:604364 MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, partial, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 epilepsy, partial, with variable foci OMIM:604364 MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 OMIM:604364 epilepsy, familial focal, with variable foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 FFEVF1 OMIM:604364 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci OMIMPS:604364 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym Atld Atld atld OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391 Atld OMIM:604391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Rusat Rusat rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM:605432 Rusat OMIM:605432 @@ -11930,7 +11296,6 @@ MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRe MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 aortic aneurysm, familial thoracic OMIM:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic dissection, familial OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 aortic dissection, familial OMIM:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym FAA1 FAA1 faa1 OMIM:607086 aortic aneurysm, familial thoracic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607086 FAA1 OMIM:607086 -MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic aortic aneurysm, familial thoracic Aortic aneurysm, familial thoracic OMIMPS:607086 Aortic aneurysm, familial thoracic OMIM:607086 aortic aneurysm, familial thoracic OMIMPS:607086 MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus 1 OMIM:607411 patent ductus arteriosus 1 OMIM:607411 patent ductus arteriosus 1 OMIM:607411 MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607411 PDA OMIM:607411 MONDO:0024561 vitelliform macular dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym foveomacular dystrophy, adult-onset OMIM:608161 macular dystrophy, vitelliform, 3 OMIM:608161 foveomacular dystrophy, adult-onset OMIM:608161 @@ -11957,7 +11322,6 @@ MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteris MONDO:0024568 infantile liver failure syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ILFS1 OMIM:615438 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615438 ILFS1 OMIM:615438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024570 hyperparathyroidism 4 oio:hasExactSynonym oio:hasRelatedSynonym HRPT4 OMIM:617343 hyperparathyroidism 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617343 HRPT4 OMIM:617343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym MDCCAID OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617404 MDCCAID OMIM:617404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oio:hasRelatedSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 1 X INACTIVATION, FAMILIAL SKEWED, 1 x inactivation, familial skewed, 1 OMIM:300087 x inactivation, familial skewed, 1 OMIM:300087 X INACTIVATION, FAMILIAL SKEWED, 1 OMIM:300087 MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym SXI1 OMIM:300087 x inactivation, familial skewed, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300087 SXI1 OMIM:300087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0026426 X inactivation, familial skewed, 2 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 2 X INACTIVATION, FAMILIAL SKEWED, 2 x inactivation, familial skewed, 2 OMIM:300179 x inactivation, familial skewed, 2 OMIM:300179 X INACTIVATION, FAMILIAL SKEWED, 2 OMIM:300179 @@ -12001,7 +11365,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 OMIM:301051 immunodeficiency 74, covid19-related, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 IMD74 OMIM:301051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 DOID:0070075 chromosome 9q34.3 deletion syndrome OMIM:610253 MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym KLEFS1 OMIM:610253 kleefstra syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610253 KLEFS1 OMIM:610253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome DOID:0070075 Kleefstra syndrome OMIMPS:610253 MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2d OMIM:617403 cutis laxa, autosomal recessive, type 2d OMIM:617403 cutis laxa, autosomal recessive, type 2D OMIM:617403 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2c OMIM:617402 cutis laxa, autosomal recessive, type 2c OMIM:617402 cutis laxa, autosomal recessive, type 2C OMIM:617402 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym ARCL2C OMIM:617402 cutis laxa, autosomal recessive, type 2c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617402 ARCL2C OMIM:617402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12042,8 +11405,6 @@ MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 77 OMIM:618915 deafness, autosomal dominant 77 OMIM:618915, OMIM:genemap2 deafness, autosomal dominant 77 OMIM:618915 MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 OMIM:618915 deafness, autosomal dominant 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 DFNA77 OMIM:618915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 OMIM:619396 herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 MONDO:0030480 hearing loss, autosomal recessive 119 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 119 OMIM:619615 deafness, autosomal recessive 119 OMIM:619615 deafness, autosomal recessive 119 OMIM:619615 @@ -12052,8 +11413,6 @@ MONDO:0030719 hearing loss, autosomal dominant 82 oio:hasExactSynonym oio:hasNar MONDO:0030723 hearing loss, autosomal dominant 83 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 83 OMIM:619808 deafness, autosomal dominant 83 OMIM:619808 deafness, autosomal dominant 83 OMIM:619808 MONDO:0030724 hearing loss, autosomal dominant 84 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 84 OMIM:619810 deafness, autosomal dominant 84 OMIM:619810 deafness, autosomal dominant 84 OMIM:619810 MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities oio:hasExactSynonym oio:hasBroadSynonym NEDMILEG OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619092 NEDMILEG OMIM:619092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure OMIM:619145, OMIM:genemap2 spermatogenic failure OMIMPS:258150 -MONDO:0030903 Hermansky-Pudlak syndrome 11 oio:hasExactSynonym oio:hasBroadSynonym Hermansky-Pudlak syndrome OMIMPS:203300 Hermansky-Pudlak syndrome OMIM:619172 Hermansky-Pudlak syndrome OMIMPS:203300 MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 117 OMIM:619174 deafness, autosomal recessive 117 OMIM:genemap2, OMIM:619174 deafness, autosomal recessive 117 OMIM:619174 MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym DFNB117 OMIM:619174 deafness, autosomal recessive 117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619174 DFNB117 OMIM:619174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked 106 OMIM:300997 intellectual developmental disorder, X-linked 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 mental retardation, X-linked 106 OMIM:300997 @@ -12087,21 +11446,12 @@ MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio: MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio:hasExactSynonym oio:hasRelatedSynonym MRD55 OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617831 MRD55 OMIM:617831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 mental retardation, autosomal dominant 56 OMIM:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym MRD56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 MRD56 OMIM:617854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 oio:hasExactSynonym oio:hasBroadSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:genemap2, OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 80 OMIM:619274 deafness, autosomal dominant 80 OMIM:genemap2, OMIM:619274 deafness, autosomal dominant 80 OMIM:619274 MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym DFNA80 OMIM:619274 deafness, autosomal dominant 80 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619274 DFNA80 OMIM:619274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angioma, familial OMIM:116860 cerebral cavernous malformations OMIM:116860 cavernous angioma, familial OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cavernous angiomatous malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cerebral capillary malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIMPS:116860 -MONDO:0031213 restrictive dermopathy oio:hasExactSynonym oio:hasNarrowSynonym hyperkeratosis-contracture syndrome OMIM:275210 restrictive dermopathy 1 DOID:0060762 hyperkeratosis-contracture syndrome OMIM:275210 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 DOID:2219, MONDO:Lexical, OMIM:273800 Glanzmann thrombasthenia OMIM:273800 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein IIb-IIIa deficiency Platelet glycoprotein IIb-IIIa deficiency platelet glycoprotein iib-iiia deficiency OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 Platelet glycoprotein IIb-IIIa deficiency OMIM:273800 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 2 bleeding disorder, Platelet-type, 2 bleeding disorder, platelet-type, 2 OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 bleeding disorder, Platelet-type, 2 OMIM:273800 -MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia DOID:2219, MONDO:Lexical, OMIM:273800 Glanzmann thrombasthenia OMIMPS:273800 -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym microcephaly, epilepsy, and diabetes syndrome microcephaly, epilepsy, and diabetes syndrome Microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome OMIM:genemap2, OMIM:614231, MONDO:Lexical microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym Mental Retardation, Autosomal Dominant 61 Mental Retardation, Autosomal Dominant 61 mental retardation, autosomal dominant 61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 OMIM:618009 Mental Retardation, Autosomal Dominant 61 OMIM:618009 MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym MRD61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618009 MRD61 OMIM:618009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032526 spinocerebellar ataxia 48 oio:hasExactSynonym oio:hasRelatedSynonym SPINOCEREBELLAR ATAXIA 48 SPINOCEREBELLAR ATAXIA 48 spinocerebellar ataxia 48 OMIM:618093 spinocerebellar ataxia 48 OMIM:618093 SPINOCEREBELLAR ATAXIA 48 OMIM:618093 @@ -12392,7 +11742,6 @@ MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3KS OMIM:618460 khan-khan-katsanis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618460 3KS OMIM:618460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BLEEDING DISORDER, PLATELET-TYPE, 22 BLEEDING DISORDER, PLATELET-TYPE, 22 bleeding disorder, platelet-type, 22 OMIM:618462 bleeding disorder, platelet-type, 22 OMIM:618462 BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM:618462 MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BDPLT22 OMIM:618462 bleeding disorder, platelet-type, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618462 BDPLT22 OMIM:618462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:618463 High Density Lipoprotein Deficiency OMIM:604091 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Apolipoprotein A-I Deficiency Apolipoprotein A-I Deficiency apolipoprotein a-i deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 Apolipoprotein A-I Deficiency OMIM:618463 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 High Density Lipoprotein Deficiency OMIM:618463 MONDO:0032767 paragangliomas 6 oio:hasExactSynonym oio:hasRelatedSynonym PARAGANGLIOMAS 6 PARAGANGLIOMAS 6 paragangliomas 6 OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 OMIM:618464 PARAGANGLIOMAS 6 OMIM:618464 @@ -12712,7 +12061,6 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 polycystic kidney disease, autosomal recessive OMIM:263200 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, infantile, type 1 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 polycystic kidney disease, infantile, type 1 OMIM:263200 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD4 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263200 PKD4 OMIM:263200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 OMIM:600666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 Galloway syndrome OMIM:251300 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 nephrosis-microcephaly syndrome OMIM:251300 @@ -12730,7 +12078,6 @@ MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynony MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia, progressive symmetric OMIM:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym EKVP1 OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133200 EKVP1 OMIM:133200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis Et progressiva erythrokeratodermia variabilis Et progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200 erythrokeratodermia variabilis Et progressiva OMIMPS:133200 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis ET progressiva 2 OMIM:617524 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym EKVP2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617524 EKVP2 OMIM:617524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis ET progressiva 3 OMIM:617525 @@ -12897,14 +12244,12 @@ MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym eosinophil peroxidase deficiency, partial OMIM:261500 eosinophil peroxidase deficiency GARD:0012361, MESH:C564893 eosinophil peroxidase deficiency, partial OMIM:261500 MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym presentey anomaly OMIM:261500 eosinophil peroxidase deficiency presentey anomaly OMIM:261500 MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EPXD OMIM:261500 eosinophil peroxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261500, GARD:0012361 EPXD OMIM:261500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044203 foveal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FVH OMIM:618549 hepatitis, fulminant viral, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical FVH OMIM:618549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Bodian syndrome OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Diamond syndrome OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 lipomatosis of pancreas, congenital OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 pancreatic insufficiency and bone marrow dysfunction OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SDS1 OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260400 SDS1 OMIM:260400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044205 Shwachman-Diamond syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym SDS2 OMIM:617941 shwachman-diamond syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617941 SDS2 OMIM:617941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome Weissenbacher-Zweymuller syndrome weissenbacher-zweymuller syndrome OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:215150 Weissenbacher-Zweymuller syndrome OMIM:184840 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Nance-Insley syndrome OMIM:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Nance-Sweeney chondrodysplasia OMIM:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome, formerly Weissenbacher-Zweymuller syndrome, formerly weissenbacher-zweymuller syndrome, formerly OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Weissenbacher-Zweymuller syndrome, formerly OMIM:215150 @@ -12914,7 +12259,6 @@ MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasEx MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 lactoferrin-deficient neutrophils OMIM:245480 MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 neutrophil lactoferrin deficiency OMIM:245480 MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym SGD1 OMIM:245480 specific granule deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245480 SGD1 OMIM:245480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym specific granule deficiency specific granule deficiency Specific granule deficiency OMIMPS:245480 Specific granule deficiency OMIM:245480, OMIM:genemap2 specific granule deficiency OMIMPS:245480 MONDO:0044208 specific granule deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym SGD2 OMIM:617475 specific granule deficiency 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617475 SGD2 OMIM:617475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym Prepl deficiency Prepl deficiency prepl deficiency OMIM:616224 myasthenic syndrome, congenital, 22 OMIM:616224 Prepl deficiency OMIM:616224 MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym CMS22 OMIM:616224 myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616224 CMS22 OMIM:616224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12999,7 +12343,6 @@ MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym sp MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, Menger type OMIM:607095 MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia OMIM:607095 anauxetic dysplasia OMIMPS:607095 MONDO:0054561 anauxetic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym ANXD2 OMIM:617396 anauxetic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617396 ANXD2 OMIM:617396 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 short-rib thoracic dysplasia 17 with or without POLYDACTYLY OMIM:617405 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym SRTD17 OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617405 SRTD17 OMIM:617405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13065,7 +12408,6 @@ MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos with Other malformations OMIM:219000 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos-syndactyly syndrome OMIM:219000 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 FRASRS1 OMIM:219000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome OMIM:219000 Fraser syndrome OMIMPS:219000 MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 OMIM:617666 fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 FRASRS2 OMIM:617666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 OMIM:617667 fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 FRASRS3 OMIM:617667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 BCD syndrome OMIM:119580 @@ -13075,7 +12417,6 @@ MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelated MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ectropion, Inferior, with cleft 51P and/Or palate ectropion, Inferior, with cleft 51P and/Or palate ectropion, inferior, with cleft 51p and/or palate OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 ectropion, Inferior, with cleft 51P and/Or palate OMIM:119580 MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 elschnig syndrome OMIM:119580 MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome OMIMPS:119580 MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 OMIM:617872 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 COXPD34 OMIM:617872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 OMIM:617873 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 COXPD35 OMIM:617873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054743 polycystic liver disease 3 with or without kidney cysts oio:hasExactSynonym oio:hasRelatedSynonym PCLD3 OMIM:617874 polycystic liver disease 3 with or without kidney cysts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617874 PCLD3 OMIM:617874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13229,7 +12570,6 @@ MONDO:0060711 Jaberi-Elahi syndrome oio:hasExactSynonym oio:hasRelatedSynonym JA MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon oio:hasExactSynonym oio:hasRelatedSynonym DCHE OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617992 DCHE OMIM:617992 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HFTC2 OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617993 HFTC2 OMIM:617993 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 oio:hasExactSynonym oio:hasRelatedSynonym HFTC3 OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617994 HFTC3 OMIM:617994 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0060720 congenital disorder of glycosylation with defective fucosylation oio:hasExactSynonym oio:hasRelatedSynonym CDGF CDGF cdgf OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618005 CDGF OMIM:618005 MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 oio:hasExactSynonym oio:hasRelatedSynonym GPIBD17 OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618010 GPIBD17 OMIM:618010 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060729 protoporphyria, erythropoietic, 2 oio:hasExactSynonym oio:hasRelatedSynonym EPP2 OMIM:618015 protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618015 EPP2 OMIM:618015 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060732 tetraamelia syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 tetraamelia syndrome 2 OMIM:618021 tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 @@ -13256,7 +12596,6 @@ MONDO:0100083 hereditary thrombocytopenia and hematological cancer predispositio MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 platelet disorder, familial, with associated myeloid malignancy https://clinicalgenome.org/affiliation/50034/, OMIM:601399 thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym FPDMM OMIM:601399 platelet disorder, familial, with associated myeloid malignancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, https://clinicalgenome.org/affiliation/50034/, OMIM:601399 FPDMM OMIM:601399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100093 myoclonus, familial, 1 oio:hasExactSynonym oio:hasBroadSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 OMIM:614937 myoclonus, familial cortical OMIM:614937 -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIMPS:606176 diabetes mellitus, permanent, of infancy OMIM:606176 MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent neonatal diabetes mellitus, permanent neonatal Diabetes mellitus, permanent neonatal OMIMPS:606176 Diabetes mellitus, permanent neonatal OMIMPS:606176, MONDO:Lexical diabetes mellitus, permanent neonatal OMIMPS:606176 MONDO:0100165 permanent neonatal diabetes mellitus 1 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIM:606176 diabetes mellitus, permanent, of infancy OMIM:606176 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency GTP cyclohydrolase 1 deficiency gtp cyclohydrolase 1 deficiency OMIM:233910 hyperphenylalaninemia, bh4-deficient, B OMIM:233910 GTP cyclohydrolase 1 deficiency OMIM:233910 @@ -13270,10 +12609,7 @@ MONDO:0100255 adenosine kinase deficiency oio:hasExactSynonym oio:hasRelatedSyno MONDO:0100288 enhanced S-cone syndrome oio:hasExactSynonym oio:hasRelatedSynonym ESCS OMIM:268100 enhanced s-cone syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268100, MONDO:Lexical ESCS OMIM:268100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate CoQ reductase deficiency succinate CoQ reductase deficiency succinate coq reductase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 OMIM:252011 succinate CoQ reductase deficiency OMIM:252011 MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate dehydrogenase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 GARD:0005053 succinate dehydrogenase deficiency OMIM:252011 -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome OMIMPS:614594 Olmsted syndrome Orphanet:659 Olmsted syndrome OMIMPS:614594 -MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 odontochondrodysplasia 1 OMIM:184260 spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 -MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym odontochondrodysplasia odontochondrodysplasia Odontochondrodysplasia OMIMPS:184260 Odontochondrodysplasia OMIM:184260 odontochondrodysplasia OMIMPS:184260 MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia Friedreich ataxia friedreich ataxia OMIM:229300 friedreich ataxia OMIM:229300, OMIM:genemap2 Friedreich ataxia OMIM:229300 MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Bartter syndrome, type 1, antenatal Bartter syndrome, type 1, antenatal bartter syndrome, type 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 Bartter syndrome, type 1, antenatal OMIM:601678 MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 @@ -13283,7 +12619,6 @@ MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelat MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia OMIM:128200 episodic kinesigenic dyskinesia 1 OMIM:128200 paroxysmal kinesigenic dyskinesia OMIM:128200 MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym EKD1 OMIM:128200 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:128200, MONDO:Lexical EKD1 OMIM:128200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0007960, OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960, OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Chondrodystrophic myotonia Chondrodystrophic myotonia chondrodystrophic myotonia OMIM:255800 schwartz-jampel syndrome, type 1 OMIM:255800 Chondrodystrophic myotonia OMIM:255800 MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 1 Schwartz-Jampel syndrome, type 1 schwartz-jampel syndrome, type 1 OMIM:255800 schwartz-jampel syndrome, type 1 MONDO:Lexical, OMIM:255800 Schwartz-Jampel syndrome, type 1 OMIM:255800 MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSynonym proliferative vitreoretinopathy OMIM:193235 vitreoretinopathy, neovascular inflammatory https://clinicalgenome.org/affiliation/40072/, MONDO:0006928 proliferative vitreoretinopathy OMIM:193235 @@ -13293,7 +12628,6 @@ MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSy MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSynonym oio:hasRelatedSynonym athelia OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 MESH:C535565, OMIM:113700 athelia OMIM:113700 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease, formerly Humeroperoneal neuromuscular disease, formerly humeroperoneal neuromuscular disease, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 Humeroperoneal neuromuscular disease, formerly OMIM:310300 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, x-linked, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 scapuloperoneal syndrome, X-linked, formerly OMIM:310300 -MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:310300, OMIM:genemap2 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, familial paroxysmal OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 choreoathetosis, familial paroxysmal OMIM:118800 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, nonkinesigenic OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 choreoathetosis, nonkinesigenic OMIM:118800 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym dystonia 8 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 dystonia 8 OMIM:118800 @@ -13302,37 +12636,20 @@ MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:has MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PNKD1 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118800 PNKD1 OMIM:118800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Teebi hypertelorism syndrome teebi hypertelorism syndrome OMIM:145420 teebi hypertelorism syndrome 1 Orphanet:1519 Teebi hypertelorism syndrome OMIM:145420 MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hypertelorism, Teebi type hypertelorism, Teebi type hypertelorism, teebi type OMIM:145420 teebi hypertelorism syndrome 1 OMIM:145420 hypertelorism, Teebi type OMIM:145420 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome OMIMPS:145420 Teebi hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome OMIMPS:145420 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym central hypoventilation syndrome, congenital central hypoventilation syndrome, congenital Central hypoventilation syndrome, congenital OMIMPS:209880 Central hypoventilation syndrome, congenital MONDO:Lexical, OMIM:209880 central hypoventilation syndrome, congenital OMIMPS:209880 -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym leukoencephalopathy, hereditary diffuse, with spheroids leukoencephalopathy, hereditary diffuse, with spheroids Leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary fibrosis, idiopathic OMIM:178500 interstitial lung disease 2 MONDO:Lexical, OMIM:178500 pulmonary fibrosis, idiopathic OMIM:178500 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym intestinal atresia, multiple OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 OMIM:243150 intestinal atresia, multiple OMIM:243150 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy restrictive dermopathy Restrictive dermopathy OMIMPS:275210 Restrictive dermopathy Orphanet:1662 restrictive dermopathy OMIMPS:275210 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 2 Schwartz-Jampel syndrome, type 2 schwartz-jampel syndrome, type 2 OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Schwartz-Jampel syndrome, type 2 OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome stuve-wiedemann/schwartz-jampel type 2 syndrome OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stws Stws stws OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Stws OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS OMIM:601559 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STUVE-Wiedemann syndrome STUVE-Wiedemann syndrome Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome OMIM:601559 STUVE-Wiedemann syndrome OMIMPS:601559 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome Stuve-Wiedemann syndrome OMIMPS:601559 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation OMIM:615273 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type iv, formerly OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273 congenital disorder of glycosylation, type IV, formerly OMIM:615273 -MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital disorder of deglycosylation OMIMPS:615273 Congenital disorder of deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation OMIMPS:615273 -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 oio:hasExactSynonym oio:hasBroadSynonym autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome, familial, Behcet-like Autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like OMIM:616744 autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 -MONDO:0800046 thyroid hormone metabolism, abnormal 1 oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone metabolism, abnormal thyroid hormone metabolism, abnormal Thyroid hormone metabolism, abnormal OMIMPS:609698 Thyroid hormone metabolism, abnormal OMIM:609698 thyroid hormone metabolism, abnormal OMIMPS:609698 -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KNO KNO kno OMIM:267750 knobloch syndrome 1 OMIM:267750 KNO OMIM:267750 MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal detachment and occipital encephalocele OMIM:267750 knobloch syndrome 1 OMIM:267750 retinal detachment and occipital encephalocele OMIM:267750 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFZS CFZS cfzs OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003889, OMIM:254940 CFZS OMIM:254940 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome Loucks-Innes syndrome loucks-innes syndrome OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM:616901 Loucks-Innes syndrome OMIM:616901 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair developmental delay with short stature, dysmorphic facial features, and sparse hair Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIM:genemap2, OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym childhood ataxia with central nervous system hypomyelinization OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 childhood ataxia with central nervous system hypomyelinization OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 vanishing White matter leukodystrophy OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 DOID:0060868 vanishing white matter leukodystrophy OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 Cree leukoencephalopathy OMIM:620315 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter OMIMPS:603896 Leukoencephalopathy with vanishing white matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter OMIMPS:603896 MONDO:0859366 hearing loss, autosomal dominant 85 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 85 OMIM:620227 deafness, autosomal dominant 85 OMIM:620227 deafness, autosomal dominant 85 OMIM:620227 MONDO:0859374 hearing loss, autosomal recessive 120 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 120 OMIM:620238 deafness, autosomal recessive 120 OMIM:620238 deafness, autosomal recessive 120 OMIM:620238 @@ -13342,15 +12659,10 @@ MONDO:0958232 hearing loss, autosomal dominant 90 oio:hasExactSynonym oio:hasNar MONDO:0958277 hearing loss, autosomal recessive 123 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 123 OMIM:620745 deafness, autosomal recessive 123 OMIM:620745 deafness, autosomal recessive 123 OMIM:620745 MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 124 OMIM:620794 deafness, autosomal recessive 124 OMIM:620794 deafness, autosomal recessive 124 OMIM:620794 MONDO:0971152 hearing loss, autosomal recessive 125 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 125 OMIM:620877 deafness, autosomal recessive 125 ORCID:0000-0002-4142-7153, OMIM:620877 deafness, autosomal recessive 125 OMIM:620877 -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome OMIMPS:193670 WHIM syndrome OMIM:193670, MONDO:Lexical WHIM syndrome OMIMPS:193670 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 OMIM:212720 MARTSOLF syndrome OMIM:212720 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Martsolf syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 Orphanet:1387 Martsolf syndrome OMIM:212720 -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome OMIMPS:212720 Martsolf syndrome OMIM:212720 MARTSOLF syndrome OMIMPS:212720 -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome OMIMPS:212720 Martsolf syndrome Orphanet:1387 Martsolf syndrome OMIMPS:212720 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Argyrophil myenteric plexus, deficiency of Argyrophil myenteric plexus, deficiency of argyrophil myenteric plexus, deficiency of OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 Argyrophil myenteric plexus, deficiency of OMIM:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction due to neuronal disease OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 intestinal pseudoobstruction due to neuronal disease OMIM:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym oio:hasBroadSynonym neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:Lexical, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 -MONDO:8000013 portal hypertension, noncirrhotic, 1 oio:hasExactSynonym oio:hasBroadSynonym portal hypertension, noncirrhotic portal hypertension, noncirrhotic Portal hypertension, noncirrhotic OMIMPS:617068 Portal hypertension, noncirrhotic OMIM:617068 portal hypertension, noncirrhotic OMIMPS:617068 MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym anorchia, familial OMIM:273250 46,xy sex reversal 11 OMIM:273250 anorchia, familial OMIM:273250 MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym testicular regression, embryonic OMIM:273250 46,xy sex reversal 11 OMIM:273250 testicular regression, embryonic OMIM:273250 diff --git a/src/ontology/reports/sync-synonym/ordo.synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/ordo.synonyms.confirmed.robot.tsv index caa257db..f23c2c59 100644 --- a/src/ontology/reports/sync-synonym/ordo.synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/ordo.synonyms.confirmed.robot.tsv @@ -14,7 +14,6 @@ MONDO:0000153 transposition of the great arteries oio:hasExactSynonym complete MONDO:0000153 transposition of the great arteries oio:hasExactSynonym transposition of the great vessels transposition of the great vessels Transposition of the great vessels Orphanet:216675 Transposition of the great arteries transposition of the great vessels Orphanet:216675 MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGA Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGA Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGV Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGV Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym MAC Orphanet:1456 Middle aortic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAC Orphanet:1456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym colobomatous microphthalmia colobomatous microphthalmia Colobomatous microphthalmia Orphanet:98938 Colobomatous microphthalmia colobomatous microphthalmia Orphanet:98938 MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst microphthalmia with colobomatous cyst Microphthalmia with colobomatous cyst Orphanet:98938 Colobomatous microphthalmia microphthalmia with colobomatous cyst Orphanet:98938 MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia-anophthalmia-coloboma syndrome microphthalmia-anophthalmia-coloboma syndrome Microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 Colobomatous microphthalmia microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 @@ -42,7 +41,6 @@ MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebra MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym creatine deficiency syndrome creatine deficiency syndrome Creatine deficiency syndrome Orphanet:79172 Creatine deficiency syndrome creatine deficiency syndrome Orphanet:79172 MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CCDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Orphanet:2704 Urofacial syndrome Ochoa syndrome Orphanet:2704 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome Orphanet:2704 Urofacial syndrome Urofacial Syndrome Orphanet:2704 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis-inverted smile syndrome hydronephrosis-inverted smile syndrome Hydronephrosis-inverted smile syndrome Orphanet:2704 Urofacial syndrome hydronephrosis-inverted smile syndrome Orphanet:2704 @@ -62,7 +60,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym rare form of salmonellosis rare MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone fibrous dysplasia of bone Orphanet:249 MONDO:0000859 spina bifida occulta oio:hasExactSynonym closed spinal dysraphism closed spinal dysraphism Closed spinal dysraphism Orphanet:645202 Closed spinal dysraphism closed spinal dysraphism Orphanet:645202 MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta spina bifida occulta Spina bifida occulta Orphanet:645202 Closed spinal dysraphism spina bifida occulta Orphanet:645202 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MSA Orphanet:102 Multiple system atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSA Orphanet:102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia Orphanet:2598 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym myopathy, lactic acidosis and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia Myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MLASA Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MLASA Orphanet:2598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -97,7 +94,6 @@ MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurilemoma acousti MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurinoma acoustic neurinoma Acoustic neurinoma Orphanet:252175 Vestibular schwannoma acoustic neurinoma Orphanet:252175 MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic neuroma Orphanet:252175 Vestibular schwannoma acoustic neuroma Orphanet:252175 MONDO:0001569 acoustic neuroma oio:hasExactSynonym vestibular schwannoma vestibular schwannoma Vestibular schwannoma Orphanet:252175 Vestibular schwannoma vestibular schwannoma Orphanet:252175 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Alpha-L-iduronidase deficiency Orphanet:579 Mucopolysaccharidosis type 1 Alpha-L-iduronidase deficiency Orphanet:579 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I Mucopolysaccharidosis Type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 Mucopolysaccharidosis Type I Orphanet:579 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 mucopolysaccharidosis type I Orphanet:579 @@ -120,7 +116,6 @@ MONDO:0001956 capillary leak syndrome oio:hasExactSynonym capillary leak syndro MONDO:0001956 capillary leak syndrome oio:hasExactSynonym idiopathic capillary leak syndrome idiopathic capillary leak syndrome Idiopathic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome idiopathic capillary leak syndrome Orphanet:188 MONDO:0001956 capillary leak syndrome oio:hasExactSynonym systemic capillary leak syndrome systemic capillary leak syndrome Systemic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome systemic capillary leak syndrome Orphanet:188 MONDO:0001956 capillary leak syndrome oio:hasExactSynonym SCLS Orphanet:188 Systemic capillary leak syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCLS Orphanet:188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001956 capillary leak syndrome oio:hasExactSynonym CLS Orphanet:192 Coffin-Lowry syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLS Orphanet:192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma Orphanet:2415 Rare lymphatic malformation lymphangioma Orphanet:2415 MONDO:0002095 vascular cancer oio:hasExactSynonym malignant vascular tumor malignant vascular tumor Malignant vascular tumor Orphanet:673466 Malignant vascular tumor malignant vascular tumor Orphanet:673466 MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym conjunctival malignant melanoma conjunctival malignant melanoma Conjunctival malignant melanoma Orphanet:617910 Conjunctival malignant melanoma conjunctival malignant melanoma Orphanet:617910 @@ -353,7 +348,6 @@ MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSy MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSynonym minimally differentiated acute myeloblastic leukemia minimally differentiated acute myeloblastic leukemia Minimally differentiated acute myeloblastic leukemia Orphanet:98832 Acute myeloid leukemia with minimal differentiation minimally differentiated acute myeloblastic leukemia Orphanet:98832 MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym AML M1 Orphanet:98833 Acute myeloblastic leukemia without maturation AML M1 Orphanet:98833 MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym acute myeloblastic leukemia M1 acute myeloblastic leukemia M1 Acute myeloblastic leukemia M1 Orphanet:98833 Acute myeloblastic leukemia without maturation acute myeloblastic leukemia M1 Orphanet:98833 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia Orphanet:98826 Myelodysplastic neoplasm with low blasts refractory anemia Orphanet:98826 MONDO:0005308 ciliopathy oio:hasExactSynonym ciliopathy ciliopathy Ciliopathy Orphanet:363250 Ciliopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL ciliopathy Orphanet:363250 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing enterocolitis Orphanet:391673 Necrotizing enterocolitis necrotizing enterocolitis Orphanet:391673 @@ -672,7 +666,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym HCHWA, Icelandic type Orph MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cystatin amyloidosis cystatin amyloidosis Cystatin amyloidosis Orphanet:100008 ACys amyloidosis cystatin amyloidosis Orphanet:100008 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis, Icelandic type hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 ACys amyloidosis hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cystatin C amyloid angiopathy hereditary cystatin C amyloid angiopathy Hereditary cystatin C amyloid angiopathy Orphanet:100008 ACys amyloidosis hereditary cystatin C amyloid angiopathy Orphanet:100008 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 Cerebral Amyloid Angiopathy hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, Ostertag type amyloidosis, Ostertag type Amyloidosis, Ostertag type Orphanet:85450 Hereditary amyloidosis with primary renal involvement amyloidosis, Ostertag type Orphanet:85450 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial amyloid nephropathy familial amyloid nephropathy Familial amyloid nephropathy Orphanet:85450 Hereditary amyloidosis with primary renal involvement familial amyloid nephropathy Orphanet:85450 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial renal amyloidosis familial renal amyloidosis Familial renal amyloidosis Orphanet:85450 Hereditary amyloidosis with primary renal involvement familial renal amyloidosis Orphanet:85450 @@ -807,7 +800,6 @@ MONDO:0007248 hereditary painful callosities oio:hasExactSynonym keratosis palm MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly camptobrachydactyly Camptobrachydactyly Orphanet:1319 Camptobrachydactyly camptobrachydactyly Orphanet:1319 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dwarfism campomelic dwarfism Campomelic dwarfism Orphanet:140 Campomelic dysplasia campomelic dwarfism Orphanet:140 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic dysplasia Orphanet:140 Campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia Orphanet:140 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD Orphanet:97242 Congenital muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD Orphanet:97242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Orphanet:376 Gordon syndrome Gordon syndrome Orphanet:376 MONDO:0007252 Gordon syndrome oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome camptodactyly-cleft palate-clubfoot syndrome Camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 MONDO:0007252 Gordon syndrome oio:hasExactSynonym distal arthrogryposis type 3 distal arthrogryposis type 3 Distal arthrogryposis type 3 Orphanet:376 Gordon syndrome distal arthrogryposis type 3 Orphanet:376 @@ -818,7 +810,6 @@ MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym Cantu crani MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome Orphanet:363705 Craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome Orphanet:363705 MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:195 Cat-eye syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CES Orphanet:195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:645749 Congenital esophageal stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CES Orphanet:645749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome oio:hasExactSynonym Wellesley-Carman-French syndrome Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome Wellesley-Carman-French syndrome Orphanet:1373 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym leukocyte adhesion deficiency type I leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type I Orphanet:99842 Leukocyte adhesion deficiency type I leukocyte adhesion deficiency type I Orphanet:99842 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym LAD-I lad-I LAD-I Orphanet:99842 Leukocyte adhesion deficiency type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION LAD-I Orphanet:99842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -894,7 +885,6 @@ MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals-Hecht syndrome Orphanet:115 Congenital contractural arachnodactyly Beals-Hecht syndrome Orphanet:115 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA syndrome Orphanet:115 Congenital contractural arachnodactyly CCA syndrome Orphanet:115 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym distal arthrogryposis type 9 distal arthrogryposis type 9 Distal arthrogryposis type 9 Orphanet:115 Congenital contractural arachnodactyly distal arthrogryposis type 9 Orphanet:115 -MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA Orphanet:70567 Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA Orphanet:70567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym hereditary coproporphyria hereditary coproporphyria Hereditary coproporphyria Orphanet:79273 Hereditary coproporphyria hereditary coproporphyria Orphanet:79273 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy Schnyder corneal dystrophy Orphanet:98967 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder crystalline corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy Orphanet:98967 @@ -996,7 +986,6 @@ MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym DI-2 Orpha MONDO:0007442 dentinogenesis imperfecta type 3 oio:hasExactSynonym dentinogenesis imperfecta, Shields type 3 dentinogenesis imperfecta, Shields type 3 Dentinogenesis imperfecta, Shields type 3 Orphanet:166265 Dentinogenesis imperfecta type 3 dentinogenesis imperfecta, Shields type 3 Orphanet:166265 MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym isolated asymmetric crying facies isolated asymmetric crying facies Isolated asymmetric crying facies Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris isolated asymmetric crying facies Orphanet:1166 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis Orphanet:86920 Dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis Orphanet:86920 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym Arginine vasopressin deficiency Orphanet:178029 Arginine vasopressin deficiency Arginine vasopressin deficiency Orphanet:178029 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary CDI hereditary CDI Hereditary CDI Orphanet:30925 Hereditary arginine vasopressin deficiency hereditary CDI Orphanet:30925 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary neurogenic diabetes insipidus hereditary neurogenic diabetes insipidus Hereditary neurogenic diabetes insipidus Orphanet:30925 Hereditary arginine vasopressin deficiency hereditary neurogenic diabetes insipidus Orphanet:30925 MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSynonym familial doughnut lesions of skull familial doughnut lesions of skull Familial doughnut lesions of skull Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome familial doughnut lesions of skull Orphanet:85192 @@ -1339,8 +1328,8 @@ MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-ano MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-anosmia-deafness-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Johnson neuroectodermal syndrome alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Del(11)(q23.3) del(11)(q23.3) Orphanet:2308 Jacobsen syndrome Del(11)(q23.3) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Orphanet:2308 Jacobsen syndrome Del(11)(q23.3) Orphanet:2308 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Del(11)(qter) del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 +MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Orphanet:2308 Jacobsen syndrome Jacobsen syndrome Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal deletion 11q distal deletion 11q Distal deletion 11q Orphanet:2308 Jacobsen syndrome distal deletion 11q Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal monosomy 11q distal monosomy 11q Distal monosomy 11q Orphanet:2308 Jacobsen syndrome distal monosomy 11q Orphanet:2308 @@ -1463,7 +1452,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym polymorphic v MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy type 2 vitelliform macular dystrophy type 2 Vitelliform macular dystrophy type 2 Orphanet:1243 Best vitelliform macular dystrophy vitelliform macular dystrophy type 2 Orphanet:1243 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BVMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BVMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007935 cystoid macular edema oio:hasExactSynonym autosomal dominant cystoid macular edema autosomal dominant cystoid macular edema Autosomal dominant cystoid macular edema Orphanet:75381 Cystoid macular dystrophy autosomal dominant cystoid macular edema Orphanet:75381 MONDO:0007935 cystoid macular edema oio:hasExactSynonym familial macular edema familial macular edema Familial macular edema Orphanet:75381 Cystoid macular dystrophy familial macular edema Orphanet:75381 MONDO:0007935 cystoid macular edema oio:hasExactSynonym DCMD Orphanet:75381 Cystoid macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DCMD Orphanet:75381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1557,7 +1545,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disease transient myeloproliferative disease Transient myeloproliferative disease Orphanet:420611 Transient myeloproliferative syndrome transient myeloproliferative disease Orphanet:420611 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome transient myeloproliferative syndrome Transient myeloproliferative syndrome Orphanet:420611 Transient myeloproliferative syndrome transient myeloproliferative syndrome Orphanet:420611 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Jankovic-Rivera syndrome Orphanet:2590 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia episodic ataxia with myokymia Episodic ataxia with myokymia Orphanet:37612 Episodic ataxia type 1 episodic ataxia with myokymia Orphanet:37612 @@ -1570,7 +1557,6 @@ MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 Orphane MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy tubular aggregate myopathy Tubular aggregate myopathy Orphanet:2593 Tubular aggregate myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tubular aggregate myopathy Orphanet:2593 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile DM juvenile DM Juvenile DM Orphanet:93672 Juvenile dermatomyositis juvenile DM Orphanet:93672 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis Orphanet:93672 Juvenile dermatomyositis juvenile dermatomyositis Orphanet:93672 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy Orphanet:206647 Myotonic dystrophy Myotonic Dystrophy Orphanet:206647 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Orphanet:273 Steinert myotonic dystrophy Steinert disease Orphanet:273 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym myotonic dystrophy type 1 myotonic dystrophy type 1 Myotonic dystrophy type 1 Orphanet:273 Steinert myotonic dystrophy myotonic dystrophy type 1 Orphanet:273 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome NFJ syndrome Orphanet:69087 @@ -1894,14 +1880,12 @@ MONDO:0008421 flat face-microstomia-ear anomaly syndrome oio:hasExactSynonym bl MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Orphanet:2462 Shprintzen-Goldberg syndrome Marfanoid craniosynostosis syndrome Orphanet:2462 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Shprintzen-Goldberg syndrome Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Shprintzen-Goldberg syndrome Orphanet:2462 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008428 septooptic dysplasia oio:hasExactSynonym De Morsier syndrome Orphanet:3157 Septo-optic dysplasia spectrum De Morsier syndrome Orphanet:3157 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septo-optic dysplasia septo-optic dysplasia Septo-optic dysplasia Orphanet:3157 Septo-optic dysplasia spectrum septo-optic dysplasia Orphanet:3157 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome Orphanet:85191 Singleton-Merten dysplasia Singleton-Merten syndrome Orphanet:85191 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym Small cell lung cancer Orphanet:70573 Small cell lung cancer Small cell lung cancer Orphanet:70573 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym small cell lung cancer small cell lung cancer Small cell lung cancer Orphanet:70573 Small cell lung cancer small cell lung cancer Orphanet:70573 -MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym 17p11.2 microdeletion syndrome Orphanet:819 Smith-Magenis syndrome 17p11.2 microdeletion syndrome Orphanet:819 MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMITH-Magenis syndrome SMITH-Magenis syndrome Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome SMITH-Magenis syndrome Orphanet:819 MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Smith-Magenis syndrome Orphanet:819 @@ -1969,7 +1953,6 @@ MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber-Krabbe syn MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalofacial angiomatosis encephalofacial angiomatosis Encephalofacial angiomatosis Orphanet:3205 Sturge-Weber syndrome encephalofacial angiomatosis Orphanet:3205 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalotrigeminal angiomatosis encephalotrigeminal angiomatosis Encephalotrigeminal angiomatosis Orphanet:3205 Sturge-Weber syndrome encephalotrigeminal angiomatosis Orphanet:3205 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Orphanet:3465 Worster-Drought syndrome Worster-Drought syndrome Orphanet:3465 MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym congenital suprabulbar paresis congenital suprabulbar paresis Congenital suprabulbar paresis Orphanet:3465 Worster-Drought syndrome congenital suprabulbar paresis Orphanet:3465 MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis supravalvular aortic stenosis Supravalvular aortic stenosis Orphanet:3193 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL supravalvular aortic stenosis Orphanet:3193 @@ -2094,8 +2077,8 @@ MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams syndrome Orphane MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome Orphanet:904 Williams syndrome Williams-Beuren syndrome Orphanet:904 MONDO:0008678 Williams syndrome oio:hasExactSynonym deletion 7q11.23 deletion 7q11.23 Deletion 7q11.23 Orphanet:904 Williams syndrome deletion 7q11.23 Orphanet:904 MONDO:0008678 Williams syndrome oio:hasExactSynonym monosomy 7q11.23 monosomy 7q11.23 Monosomy 7q11.23 Orphanet:904 Williams syndrome monosomy 7q11.23 Orphanet:904 -MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 +MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome Orphanet:893 WAGR syndrome WAGR syndrome Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 WAGR syndrome Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym deletion 11p13 deletion 11p13 Deletion 11p13 Orphanet:893 WAGR syndrome deletion 11p13 Orphanet:893 @@ -2136,7 +2119,6 @@ MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficienc MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short limb skeletal dysplasia with SCID short limb skeletal dysplasia with SCID Short limb skeletal dysplasia with SCID Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency short limb skeletal dysplasia with SCID Orphanet:935 MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short-limb skeletal dysplasia with severe combined immunodeficiency short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 MONDO:0008705 lysosomal acid phosphatase deficiency oio:hasExactSynonym lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency Lysosomal acid phosphatase deficiency Orphanet:35121 Lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency Orphanet:35121 -MONDO:0008706 Ackerman syndrome oio:hasExactSynonym Ackerman syndrome Orphanet:79099 Interstitial granulomatous dermatitis with arthritis Ackerman syndrome Orphanet:79099 MONDO:0008707 acro-renal-mandibular syndrome oio:hasExactSynonym split hand/split foot-mandibular hypoplasia syndrome split hand/split foot-mandibular hypoplasia syndrome Split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 Acro-renal-mandibular syndrome split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal syndrome Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrocallosal syndrome Orphanet:36 MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS Orphanet:36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2269,7 +2251,6 @@ MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExact MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym CACP syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome CACP syndrome Orphanet:2848 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym arthropathy-camptodactyly syndrome arthropathy-camptodactyly syndrome Arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome arthropathy-camptodactyly syndrome Orphanet:2848 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym pericarditis-arthropathy-camptodactyly syndrome pericarditis-arthropathy-camptodactyly syndrome Pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym Jacobs syndrome Orphanet:8 47,XYY syndrome Jacobs syndrome Orphanet:8 MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminidase deficiency aspartylglucosaminidase deficiency Aspartylglucosaminidase deficiency Orphanet:93 Aspartylglucosaminuria aspartylglucosaminidase deficiency Orphanet:93 MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminuria aspartylglucosaminuria Aspartylglucosaminuria Orphanet:93 Aspartylglucosaminuria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL aspartylglucosaminuria Orphanet:93 MONDO:0008832 right atrial isomerism oio:hasExactSynonym Ivemark Syndrome Ivemark Syndrome Ivemark syndrome Orphanet:97548 Right sided atrial isomerism Ivemark Syndrome Orphanet:97548 @@ -2471,7 +2452,6 @@ MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExact MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym infantile hereditary endothelial dystrophy infantile hereditary endothelial dystrophy Infantile hereditary endothelial dystrophy Orphanet:293603 Congenital hereditary endothelial dystrophy type II infantile hereditary endothelial dystrophy Orphanet:293603 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED2 Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHED2 Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHEDII Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEDII Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy Orphanet:98969 Macular corneal dystrophy Fehr corneal dystrophy Orphanet:98969 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym corneal dystrophy Groenouw type II corneal dystrophy Groenouw type II Corneal dystrophy Groenouw type II Orphanet:98969 Macular corneal dystrophy corneal dystrophy Groenouw type II Orphanet:98969 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular corneal dystrophy Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy Orphanet:98969 @@ -2649,7 +2629,6 @@ MONDO:0009168 Fowler syndrome oio:hasExactSynonym Encephaloclastic proliferativ MONDO:0009168 Fowler syndrome oio:hasExactSynonym cerebral proliferative glomeruloid vasculopathy cerebral proliferative glomeruloid vasculopathy Cerebral proliferative glomeruloid vasculopathy Orphanet:221126 Fowler vasculopathy cerebral proliferative glomeruloid vasculopathy Orphanet:221126 MONDO:0009168 Fowler syndrome oio:hasExactSynonym hydrocephaly/hydranencephaly due to cerebral vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 Fowler vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 MONDO:0009168 Fowler syndrome oio:hasExactSynonym proliferative vasculopathy and hydranencephaly/hydrocephaly proliferative vasculopathy and hydranencephaly/hydrocephaly Proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 Fowler vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 -MONDO:0009168 Fowler syndrome oio:hasExactSynonym Fowler syndrome Orphanet:2795 Fowler urethral sphincter dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fowler syndrome Orphanet:2795 MONDO:0009169 endocardial fibroelastosis oio:hasExactSynonym endocardial fibroelastosis endocardial fibroelastosis Endocardial fibroelastosis Orphanet:2022 Endocardial fibroelastosis endocardial fibroelastosis Orphanet:2022 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency oio:hasExactSynonym congenital enterokinase deficiency congenital enterokinase deficiency Congenital enterokinase deficiency Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency congenital enterokinase deficiency Orphanet:168601 MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Shulman syndrome Orphanet:3165 Eosinophilic fasciitis Shulman syndrome Orphanet:3165 @@ -2723,7 +2702,6 @@ MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym acid ceramidase def MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym FFU complex Orphanet:2019 Femur-fibula-ulna complex FFU complex Orphanet:2019 MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna dysostosis femur-fibula-ulna dysostosis Femur-fibula-ulna dysostosis Orphanet:2019 Femur-fibula-ulna complex femur-fibula-ulna dysostosis Orphanet:2019 MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna syndrome femur-fibula-ulna syndrome Femur-fibula-ulna syndrome Orphanet:2019 Femur-fibula-ulna complex femur-fibula-ulna syndrome Orphanet:2019 -MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym PFFD Orphanet:633228 Isolated proximal femoral focal deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFFD Orphanet:633228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym Gollop-Wolfgang complex Orphanet:1986 Gollop-Wolfgang complex Gollop-Wolfgang complex Orphanet:1986 MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym bifid femur-monodactylous ectrodactyly syndrome bifid femur-monodactylous ectrodactyly syndrome Bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 Gollop-Wolfgang complex bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia oio:hasExactSynonym 46,XY DSD due to LHB deficiency Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency 46,XY DSD due to LHB deficiency Orphanet:325448 @@ -2787,7 +2765,6 @@ MONDO:0009263 GAPO syndrome oio:hasExactSynonym Growth delay-alopecia-pseudoano MONDO:0009263 GAPO syndrome oio:hasExactSynonym gapo syndrome gapo syndrome GAPO syndrome Orphanet:2067 GAPO syndrome gapo syndrome Orphanet:2067 MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis Gastroschisis Orphanet:2368 Gastroschisis gastroschisis Orphanet:2368 MONDO:0009264 gastroschisis oio:hasExactSynonym laparoschisis laparoschisis Laparoschisis Orphanet:2368 Gastroschisis laparoschisis Orphanet:2368 -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid beta-glucosidase deficiency Orphanet:355 Gaucher disease acid Beta-glucosidase deficiency Orphanet:355 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym non-cerebral juvenile Gaucher disease non-cerebral juvenile Gaucher disease Non-cerebral juvenile Gaucher disease Orphanet:77259 Gaucher disease type 1 non-cerebral juvenile Gaucher disease Orphanet:77259 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym acute neuronopathic Gaucher disease acute neuronopathic Gaucher disease Acute neuronopathic Gaucher disease Orphanet:77260 Gaucher disease type 2 acute neuronopathic Gaucher disease Orphanet:77260 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile cerebral Gaucher disease Orphanet:77260 Gaucher disease type 2 infantile cerebral Gaucher disease Orphanet:77260 @@ -3149,10 +3126,8 @@ MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym kapur-Toriello syndro MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oculocerebrofacial syndrome, Kaufman type oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial syndrome, Kaufman type Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL oculocerebrofacial syndrome, Kaufman type Orphanet:2707 MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym PPK, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type PPK, Gamborg-Nielsen type Orphanet:86923 MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym keratosis palmoplantar-periodontopathy syndrome keratosis palmoplantar-periodontopathy syndrome Keratosis palmoplantar-periodontopathy syndrome Orphanet:678 Papillon-Lefèvre syndrome keratosis palmoplantar-periodontopathy syndrome Orphanet:678 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome Haim-Munk syndrome Orphanet:2342 MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym keratosis palmoplantaris-periodontopathia-onychogryposis syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 @@ -3199,7 +3174,6 @@ MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym laryngo-ony MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome logic syndrome LOGIC syndrome Orphanet:2407 Laryngo-onycho-cutaneous syndrome logic syndrome Orphanet:2407 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome Laurence-Moon syndrome Orphanet:2377 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Orphanet:79293 Familial LCAT deficiency Norum disease Orphanet:79293 MONDO:0009515 Norum disease oio:hasExactSynonym complete LCAT deficiency complete LCAT deficiency Complete LCAT deficiency Orphanet:79293 Familial LCAT deficiency complete LCAT deficiency Orphanet:79293 MONDO:0009515 Norum disease oio:hasExactSynonym FLD Orphanet:79293 Familial LCAT deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FLD Orphanet:79293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3790,7 +3764,6 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome oio:hasExactSynonym MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym autosomal recessive popliteal pterygium syndrome autosomal recessive popliteal pterygium syndrome Autosomal recessive popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome autosomal recessive popliteal pterygium syndrome Orphanet:1234 MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym lethal popliteal pterygium syndrome lethal popliteal pterygium syndrome Lethal popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome lethal popliteal pterygium syndrome Orphanet:1234 MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym Bartsocas-Papas syndrome Orphanet:1234 Bartsocas-Papas syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bartsocas-Papas syndrome Orphanet:1234 -MONDO:0009902 cutaneous porphyria oio:hasExactSynonym erythropoietic porphyria erythropoietic porphyria Erythropoietic porphyria Orphanet:659681 Erythropoietic porphyria erythropoietic porphyria Orphanet:659681 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria Congenital erythropoietic porphyria Orphanet:79277 Congenital erythropoietic porphyria Congenital Erythropoietic Porphyria Orphanet:79277 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Günther disease Orphanet:79277 Congenital erythropoietic porphyria Günther disease Orphanet:79277 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3850,7 +3823,6 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia Congenital alveolar capillary dysplasia Orphanet:210122 Congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia Orphanet:210122 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACDMPV Orphanet:210122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary capillary hemangiomatosis pulmonary capillary hemangiomatosis Pulmonary capillary hemangiomatosis Orphanet:199241 Pulmonary capillary hemangiomatosis pulmonary capillary hemangiomatosis Orphanet:199241 MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Orphanet:763 Pycnodysostosis Pyknodysostosis Orphanet:763 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis Orphanet:763 Pycnodysostosis pycnodysostosis Orphanet:763 MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym camera syndrome camera syndrome Camera syndrome Orphanet:3003 Pyknoachondrogenesis camera syndrome Orphanet:3003 @@ -3937,7 +3909,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria saccharopinur MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Orphanet:796 Sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sandhoff disease Orphanet:796 MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome oio:hasExactSynonym Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia sarcosinemia Sarcosinemia Orphanet:3129 Sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sarcosinemia Orphanet:3129 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym Schinzel-Giedion syndrome Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Schinzel-Giedion syndrome Orphanet:798 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly schizencephaly Schizencephaly Orphanet:799 Schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizencephaly Orphanet:799 @@ -4055,7 +4026,6 @@ MONDO:0010101 Teebi-Shaltout syndrome oio:hasExactSynonym Teebi-Shaltout syndro MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym Stoelinga-de Koomen-Davis syndrome Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Stoelinga-de Koomen-Davis syndrome Orphanet:2972 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ cell tumor of testis Orphanet:363504 Germ cell tumor of testis germ cell tumor of testis Orphanet:363504 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular germ cell tumor Orphanet:363504 Germ cell tumor of testis testicular germ cell tumor Orphanet:363504 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym TGCT Orphanet:66627 Tenosynovial giant cell tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGCT Orphanet:66627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym Zimmer phocomelia Orphanet:3301 Tetraamelia-multiple malformations syndrome Zimmer phocomelia Orphanet:3301 MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym Freire-Maia syndrome Orphanet:2723 Odontotrichomelic syndrome Freire-Maia syndrome Orphanet:2723 MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym odontotrichomelic syndrome odontotrichomelic syndrome Odontotrichomelic syndrome Orphanet:2723 Odontotrichomelic syndrome odontotrichomelic syndrome Orphanet:2723 @@ -4261,7 +4231,6 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym X-linked intellectual disability, Cabezas type Orphanet:85293 X-linked intellectual disability, Cabezas type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked intellectual disability, Cabezas type Orphanet:85293 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome Robinow-Unger syndrome Orphanet:2780 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations hyperostosis generalisata with striations Hyperostosis generalisata with striations Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome hyperostosis generalisata with striations Orphanet:2780 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker dystrophinopathy Orphanet:98895 Becker muscular dystrophy Becker dystrophinopathy Orphanet:98895 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy Orphanet:98895 Becker muscular dystrophy Becker muscular dystrophy Orphanet:98895 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4718,7 +4687,6 @@ MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked juvenile retinoschisis Orphanet:792 X-linked retinoschisis X-linked juvenile retinoschisis Orphanet:792 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked retinoschisis Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked retinoschisis Orphanet:792 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XLRS Orphanet:792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS Orphanet:2909 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS Orphanet:2909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Orphanet:778 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome Orphanet:778 MONDO:0010728 SCARF syndrome oio:hasExactSynonym SCARF syndrome Orphanet:3134 SCARF syndrome SCARF syndrome Orphanet:3134 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Golabi-Rosen syndrome Orphanet:373 Simpson-Golabi-Behmel syndrome Golabi-Rosen syndrome Orphanet:373 @@ -4837,7 +4805,6 @@ MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym pseudoaminopterin MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym ASSA Orphanet:221120 Pseudoaminopterin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASSA Orphanet:221120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010867 PARC syndrome oio:hasExactSynonym PARC syndrome Orphanet:2825 PARC syndrome PARC syndrome Orphanet:2825 MONDO:0010867 PARC syndrome oio:hasExactSynonym poikiloderma-alopecia-retrognathism-cleft palate syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 PARC syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Finnish tibial muscular dystrophy Orphanet:609 Tibial muscular dystrophy Finnish tibial muscular dystrophy Orphanet:609 MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Udd myopathy Orphanet:609 Tibial muscular dystrophy Udd myopathy Orphanet:609 MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym distal myopathy, Udd type distal myopathy, Udd type Distal myopathy, Udd type Orphanet:609 Tibial muscular dystrophy distal myopathy, Udd type Orphanet:609 @@ -4851,8 +4818,8 @@ MONDO:0010878 hereditary spastic paraplegia 6 oio:hasExactSynonym SPG6 Orphan MONDO:0010879 CODAS syndrome oio:hasExactSynonym CODAS syndrome Orphanet:1458 CODAS syndrome CODAS syndrome Orphanet:1458 MONDO:0010879 CODAS syndrome oio:hasExactSynonym cerebrooculodentoauriculoskeletal syndrome cerebrooculodentoauriculoskeletal syndrome Cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 CODAS syndrome cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym 8q13 microdeletion syndrome Orphanet:2496 Mesomelia-synostoses syndrome 8q13 microdeletion syndrome Orphanet:2496 -MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 +MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Verloes-David syndrome Orphanet:2496 Mesomelia-synostoses syndrome Verloes-David syndrome Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome mesomelia-synostoses syndrome Mesomelia-synostoses syndrome Orphanet:2496 Mesomelia-synostoses syndrome mesomelia-synostoses syndrome Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Mesomelia-synostoses syndrome mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 @@ -4922,13 +4889,11 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym Marden-Walker-lik MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym van den Ende-Gupta syndrome van den Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL van den Ende-Gupta syndrome Orphanet:2460 MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym VDEGS Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VDEGS Orphanet:2460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym PCI deficiency Orphanet:71528 Obesity due to prohormone convertase I deficiency PCI deficiency Orphanet:71528 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma, Bothnian type Diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis, Parenti-Fraccaro type achondrogenesis, Parenti-Fraccaro type Achondrogenesis, Parenti-Fraccaro type Orphanet:93298 Achondrogenesis type 1B achondrogenesis, Parenti-Fraccaro type Orphanet:93298 MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Ferlini-Ragno-Calzolari syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Ferlini-Ragno-Calzolari syndrome Orphanet:2180 MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Waaler-Aarskog syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Waaler-Aarskog syndrome Orphanet:2180 MONDO:0010977 Brody myopathy oio:hasExactSynonym Brody myopathy Orphanet:53347 Brody myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brody myopathy Orphanet:53347 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy syndrome Orphanet:65283 Timothy syndrome TIMOTHY syndrome Orphanet:65283 MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Orphanet:65283 Timothy syndrome Timothy syndrome Orphanet:65283 MONDO:0010979 Timothy syndrome oio:hasExactSynonym long QT syndrome-syndactyly syndrome long QT syndrome-syndactyly syndrome Long QT syndrome-syndactyly syndrome Orphanet:65283 Timothy syndrome long QT syndrome-syndactyly syndrome Orphanet:65283 @@ -5066,7 +5031,6 @@ MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynon MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym musculocontractural Ehlers-Danlos syndrome musculocontractural Ehlers-Danlos syndrome Musculocontractural Ehlers-Danlos syndrome Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome musculocontractural Ehlers-Danlos syndrome Orphanet:2953 MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym MCEDS MCEDS mcEDS Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCEDS Orphanet:2953 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228363 CLN6 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION vLINCL Orphanet:228363 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228366 CLN7 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION vLINCL Orphanet:228366 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p mosaicism Orphanet:884 Tetrasomy 12p Isochromosome 12p mosaicism Orphanet:884 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p syndrome Orphanet:884 Tetrasomy 12p Isochromosome 12p syndrome Orphanet:884 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Orphanet:884 Tetrasomy 12p Pallister-Killian syndrome Orphanet:884 @@ -5104,7 +5068,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym par MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym infantile convulsions and choreoathetosis infantile convulsions and choreoathetosis Infantile convulsions and choreoathetosis Orphanet:31709 Infantile convulsions and choreoathetosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL infantile convulsions and choreoathetosis Orphanet:31709 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech and language disorder with orofacial dyspraxia speech and language disorder with orofacial dyspraxia Speech and language disorder with orofacial dyspraxia Orphanet:209908 Isolated childhood apraxia of speech speech and language disorder with orofacial dyspraxia Orphanet:209908 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech-language disorder type 1 speech-language disorder type 1 Speech-language disorder type 1 Orphanet:209908 Isolated childhood apraxia of speech speech-language disorder type 1 Orphanet:209908 -MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym CAS Orphanet:56425 Cold agglutinin disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAS Orphanet:56425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Thiel-Behnke corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy Orphanet:98960 MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Waardenburg-Jonker corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy Waardenburg-Jonker corneal dystrophy Orphanet:98960 MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 2 anterior limiting membrane dystrophy type 2 Anterior limiting membrane dystrophy type 2 Orphanet:98960 Thiel-Behnke corneal dystrophy anterior limiting membrane dystrophy type 2 Orphanet:98960 @@ -5120,9 +5083,6 @@ MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynony MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 MONDO:0011202 RHYNS syndrome oio:hasExactSynonym RHYNS syndrome Orphanet:140976 RHYNS syndrome RHYNS syndrome Orphanet:140976 MONDO:0011202 RHYNS syndrome oio:hasExactSynonym retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 RHYNS syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos Disease Degos Disease Degos disease Orphanet:656071 Atrophic papulosis Degos Disease Orphanet:656071 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos disease Orphanet:656071 Atrophic papulosis Degos disease Orphanet:656071 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Köhlmeier-Degos disease Orphanet:656071 Atrophic papulosis Köhlmeier-Degos disease Orphanet:656071 MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym malignant atrophic papulosis malignant atrophic papulosis Malignant atrophic papulosis Orphanet:679 Malignant atrophic papulosis malignant atrophic papulosis Orphanet:679 MONDO:0011213 Pierpont syndrome oio:hasExactSynonym Pierpont syndrome Orphanet:487825 Pierpont syndrome Pierpont syndrome Orphanet:487825 MONDO:0011213 Pierpont syndrome oio:hasExactSynonym plantar lipomatosis-facial dysmorphism-developmental delay syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 Pierpont syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 @@ -5220,7 +5180,6 @@ MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExact MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease Orphanet:2289 Neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease Orphanet:2289 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym spinocerebellar ataxia type 10 spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 Orphanet:98761 Spinocerebellar ataxia type 10 spinocerebellar ataxia type 10 Orphanet:98761 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 Orphanet:98761 Spinocerebellar ataxia type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA10 Orphanet:98761 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome limb-mammary syndrome Limb-mammary syndrome Orphanet:69085 Limb-mammary syndrome limb-mammary syndrome Orphanet:69085 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 @@ -5437,7 +5396,6 @@ MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio: MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio:hasExactSynonym woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 Carvajal syndrome http://purl.obolibrary.org/obo/OMO_0003005 woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym NFU1 deficiency Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 NFU1 deficiency Orphanet:401869 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym DSMA2 DSMA2 dSMA2 Orphanet:139525 Distal hereditary motor neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSMA2 Orphanet:139525 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 2 autosomal recessive distal spinal muscular atrophy type 2 Autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 Distal hereditary motor neuropathy, Jerash type autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym dHMNJ Orphanet:139552 Distal hereditary motor neuropathy, Jerash type dHMNJ Orphanet:139552 MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym COIF syndrome Orphanet:79144 Isolated congenital onychodysplasia COIF syndrome Orphanet:79144 @@ -5527,7 +5485,6 @@ MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym ligase 4 syndrome li MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym DNA ligase IV deficiency Orphanet:99812 LIG4 syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL DNA ligase IV deficiency Orphanet:99812 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym autosomal dominant Charcot-Marie-Tooth disease type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym CMT2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2F Orphanet:99940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 Orphanet:412057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 15/16 Orphanet:98769 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCA15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA15/16 Orphanet:98769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym Glycine N-methyltransferase deficiency Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency Orphanet:289891 @@ -5635,8 +5592,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym spastic parap MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym SPG7 Orphanet:99013 Spastic paraplegia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG7 Orphanet:99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym caspase 8 deficiency syndrome caspase 8 deficiency syndrome Caspase 8 deficiency syndrome Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency caspase 8 deficiency syndrome Orphanet:275517 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS CEDS cEDS Orphanet:287 Classical Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEDS Orphanet:287 -MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia osteofibrous dysplasia Osteofibrous dysplasia Orphanet:488265 Osteofibrous dysplasia osteofibrous dysplasia Orphanet:488265 MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym progressive external ophthalmoplegia and scoliosis progressive external ophthalmoplegia and scoliosis Progressive external ophthalmoplegia and scoliosis Orphanet:2744 Horizontal gaze palsy with progressive scoliosis progressive external ophthalmoplegia and scoliosis Orphanet:2744 @@ -5744,8 +5699,8 @@ MONDO:0011927 tufted angioma oio:hasExactSynonym tufted angioma tufted angioma MONDO:0011928 caudal duplication oio:hasExactSynonym dipygus dipygus Dipygus Orphanet:1756 Caudal duplication dipygus Orphanet:1756 MONDO:0011928 caudal duplication oio:hasExactSynonym split notochord syndrome split notochord syndrome Split notochord syndrome Orphanet:1756 Caudal duplication split notochord syndrome Orphanet:1756 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym 1p36 deletion syndrome Orphanet:1606 1p36 deletion syndrome 1p36 deletion syndrome Orphanet:1606 -MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 +MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1p36 deletion 1p36 Deletion 1p36 Orphanet:1606 1p36 deletion syndrome deletion 1p36 Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1pter deletion 1pter Deletion 1pter Orphanet:1606 1p36 deletion syndrome deletion 1pter Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym monosomy 1p36 monosomy 1p36 Monosomy 1p36 Orphanet:1606 1p36 deletion syndrome monosomy 1p36 Orphanet:1606 @@ -5868,7 +5823,6 @@ MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-relate MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated FAP Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated FAP Orphanet:247798 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial polyposis coli Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli Orphanet:247798 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 -MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MAP Orphanet:679 Malignant atrophic papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAP Orphanet:679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 1 anterior limiting membrane dystrophy type 1 Anterior limiting membrane dystrophy type 1 Orphanet:98961 Reis-Bücklers corneal dystrophy anterior limiting membrane dystrophy type 1 Orphanet:98961 MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type I anterior limiting membrane dystrophy type I Anterior limiting membrane dystrophy type I Orphanet:98961 Reis-Bücklers corneal dystrophy anterior limiting membrane dystrophy type I Orphanet:98961 MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym atypical granular corneal dystrophy atypical granular corneal dystrophy Atypical granular corneal dystrophy Orphanet:98961 Reis-Bücklers corneal dystrophy atypical granular corneal dystrophy Orphanet:98961 @@ -6055,8 +6009,8 @@ MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythem MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q subtelomere deletion syndrome Orphanet:65286 3q29 microdeletion syndrome 3q subtelomere deletion syndrome Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q29 microdeletion syndrome Orphanet:65286 3q29 microdeletion syndrome 3q29 microdeletion syndrome Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3qter deletion Orphanet:65286 3q29 microdeletion syndrome 3qter deletion Orphanet:65286 -MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Del(3)(q29) del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 +MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3q29 monosomy 3q29 Monosomy 3q29 Orphanet:65286 3q29 microdeletion syndrome monosomy 3q29 Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3qter monosomy 3qter Monosomy 3qter Orphanet:65286 3q29 microdeletion syndrome monosomy 3qter Orphanet:65286 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction oio:hasExactSynonym syndactyly type 9 syndactyly type 9 Syndactyly type 9 Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction syndactyly type 9 Orphanet:157801 @@ -6184,7 +6138,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym SCA28 Orphan MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 autosomal dominant spastic paraplegia type 31 Orphanet:101011 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 Orphanet:101011 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome Orphanet:261494 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome Orphanet:261494 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9Q subtelomeric deletion syndrome Orphanet:96147 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oio:hasExactSynonym PIGM-CDG Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION PIGM-CDG Orphanet:83639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod ERG cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod ERG Orphanet:209932 Cone dystrophy with supernormal rod response cone dystrophy with supernormal rod ERG Orphanet:209932 MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod electroretinogram cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal rod electroretinogram Orphanet:209932 Cone dystrophy with supernormal rod response cone dystrophy with supernormal rod electroretinogram Orphanet:209932 @@ -6197,8 +6150,6 @@ MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric a MONDO:0012481 mevalonic aciduria oio:hasExactSynonym complete mevalonate kinase deficiency complete mevalonate kinase deficiency Complete mevalonate kinase deficiency Orphanet:29 Mevalonic aciduria complete mevalonate kinase deficiency Orphanet:29 MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria mevalonic aciduria Mevalonic aciduria Orphanet:29 Mevalonic aciduria mevalonic aciduria Orphanet:29 MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MVA Orphanet:29 Mevalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MVA Orphanet:29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MKD Orphanet:309025 Mevalonate kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MKD Orphanet:309025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS Orphanet:343 Hyperimmunoglobulinemia D with periodic fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIDS Orphanet:343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMD, Geneviève type Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type SEMD, Geneviève type Orphanet:168454 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMDG Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEMDG Orphanet:168454 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012496 Koolen-de Vries syndrome oio:hasExactSynonym KdVS Orphanet:96169 Koolen-De Vries syndrome KdVS Orphanet:96169 @@ -6366,8 +6317,8 @@ MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym severe intellectual MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym TMBTS Orphanet:420561 Temple-Baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMBTS Orphanet:420561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oio:hasExactSynonym Balikova-Vermeesch syndrome Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome Balikova-Vermeesch syndrome Orphanet:139450 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal 22q11.2 microdeletion syndrome distal 22q11.2 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal 22q11.2 microdeletion syndrome Orphanet:261330 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal monosomy 22q11.2 distal monosomy 22q11.2 Distal monosomy 22q11.2 Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal monosomy 22q11.2 Orphanet:261330 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency GSD due to aldolase A deficiency Orphanet:57 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD type 12 Orphanet:57 Glycogen storage disease due to aldolase A deficiency GSD type 12 Orphanet:57 @@ -6379,8 +6330,8 @@ MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExact MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogenosis type XII glycogenosis type XII Glycogenosis type XII Orphanet:57 Glycogen storage disease due to aldolase A deficiency glycogenosis type XII Orphanet:57 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogen storage disease due to aldolase A deficiency glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glycogen storage disease due to aldolase A deficiency Orphanet:57 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome oio:hasExactSynonym Vuopala disease Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome Vuopala disease Orphanet:53696 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) proximal del(16)(p11.2) Proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal monosomy 16p11.2 proximal monosomy 16p11.2 Proximal monosomy 16p11.2 Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal monosomy 16p11.2 Orphanet:261197 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym 3q29 microduplication syndrome Orphanet:251038 3q29 microduplication syndrome 3q29 microduplication syndrome Orphanet:251038 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym trisomy 3q29 trisomy 3q29 Trisomy 3q29 Orphanet:251038 3q29 microduplication syndrome trisomy 3q29 Orphanet:251038 @@ -6390,8 +6341,8 @@ MONDO:0012764 RIDDLE syndrome oio:hasExactSynonym RIDDLE syndrome Orphanet:42 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Orphanet:171612 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym SPG37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG37 Orphanet:171612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym 15q13.3 microdeletion syndrome Orphanet:199318 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome Orphanet:199318 -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym monosomy 15q13.3 monosomy 15q13.3 Monosomy 15q13.3 Orphanet:199318 15q13.3 microdeletion syndrome monosomy 15q13.3 Orphanet:199318 MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type In Orphanet:244310 RFT1-CDG CDG syndrome type In Orphanet:244310 MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG-In Orphanet:244310 RFT1-CDG CDG-In Orphanet:244310 @@ -6456,8 +6407,8 @@ MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym osteopetr MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym 2q32q33 microdeletion syndrome Orphanet:251019 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Del(2)(q32) del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32) Orphanet:251019 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32 monosomy 2q32 Monosomy 2q32 Orphanet:251019 2q32q33 microdeletion syndrome monosomy 2q32 Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32q33 monosomy 2q32q33 Monosomy 2q32q33 Orphanet:251019 2q32q33 microdeletion syndrome monosomy 2q32q33 Orphanet:251019 MONDO:0012866 hereditary spastic paraplegia 35 oio:hasExactSynonym autosomal recessive spastic paraplegia type 35 autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 35 Orphanet:171629 Autosomal recessive spastic paraplegia type 35 autosomal recessive spastic paraplegia type 35 Orphanet:171629 @@ -6496,16 +6447,16 @@ MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q2 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q21) Orphanet:250989 1q21.1 microdeletion syndrome Del(1)(q21) Orphanet:250989 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym monosomy 1q21.1 monosomy 1q21.1 Monosomy 1q21.1 Orphanet:250989 1q21.1 microdeletion syndrome monosomy 1q21.1 Orphanet:250989 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym 1q21.1 microduplication syndrome Orphanet:250994 1q21.1 microduplication syndrome 1q21.1 microduplication syndrome Orphanet:250994 -MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) dup(1)(q21.1) Dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 +MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym trisomy 1q21.1 trisomy 1q21.1 Trisomy 1q21.1 Orphanet:250994 1q21.1 microduplication syndrome trisomy 1q21.1 Orphanet:250994 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym 2p15p16.1 microdeletion syndrome Orphanet:261349 2p15p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome Orphanet:261349 -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym monosomy 2p15p16.1 monosomy 2p15p16.1 Monosomy 2p15p16.1 Orphanet:261349 2p15p16.1 microdeletion syndrome monosomy 2p15p16.1 Orphanet:261349 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym 1q41q42 microdeletion syndrome Orphanet:250999 1q41q42 microdeletion syndrome 1q41q42 microdeletion syndrome Orphanet:250999 -MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 +MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym monosomy 1q41q42 monosomy 1q41q42 Monosomy 1q41q42 Orphanet:250999 1q41q42 microdeletion syndrome monosomy 1q41q42 Orphanet:250999 MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym autosomal dominant spastic paraplegia type 42 autosomal dominant spastic paraplegia type 42 Autosomal dominant spastic paraplegia type 42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 autosomal dominant spastic paraplegia type 42 Orphanet:171863 MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym SPG42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG42 Orphanet:171863 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6559,8 +6510,8 @@ MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis o MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym DIRA Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIRA Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym OMPP Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMPP Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013024 chronic thromboembolic pulmonary hypertension oio:hasExactSynonym CTEPH Orphanet:70591 Chronic thromboembolic pulmonary hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTEPH Orphanet:70591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Del(6)(q25) del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 +MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym monosomy 6q25 monosomy 6q25 Monosomy 6q25 Orphanet:251056 6q25.2q25.3 microdeletion syndrome monosomy 6q25 Orphanet:251056 MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym subepithelial mucinous corneal dystrophy subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy Orphanet:98959 Subepithelial mucinous corneal dystrophy subepithelial mucinous corneal dystrophy Orphanet:98959 MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym SMCD Orphanet:98959 Subepithelial mucinous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMCD Orphanet:98959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6661,8 +6612,8 @@ MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym SPG65 Orph MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym GABA transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency GABA transaminase deficiency Orphanet:2066 MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym gamma-aminobutyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency Gamma-aminobutyric acid transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency Orphanet:2066 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym 5p13 microduplication syndrome Orphanet:329802 5p13 microduplication syndrome 5p13 microduplication syndrome Orphanet:329802 -MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 +MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym trisomy 5p13 trisomy 5p13 Trisomy 5p13 Orphanet:329802 5p13 microduplication syndrome trisomy 5p13 Orphanet:329802 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym Urban-Rifkin-Davis syndrome Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Urban-Rifkin-Davis syndrome Orphanet:221145 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym autosomal recessive cutis laxa type 1C autosomal recessive cutis laxa type 1C Autosomal recessive cutis laxa type 1C Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive cutis laxa type 1C Orphanet:221145 @@ -6680,8 +6631,8 @@ MONDO:0013178 congenital muscular dystrophy due to LMNA mutation oio:hasExactSyn MONDO:0013179 hereditary spastic paraplegia 44 oio:hasExactSynonym SPG44 Orphanet:320401 Autosomal recessive spastic paraplegia type 44 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG44 Orphanet:320401 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 duplication syndrome Orphanet:217385 17p13.3 microduplication syndrome 17p13.3 duplication syndrome Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 microduplication syndrome Orphanet:217385 17p13.3 microduplication syndrome 17p13.3 microduplication syndrome Orphanet:217385 -MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 +MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym trisomy 17p13.3 trisomy 17p13.3 Trisomy 17p13.3 Orphanet:217385 17p13.3 microduplication syndrome trisomy 17p13.3 Orphanet:217385 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym congenital tufting enteropathy congenital tufting enteropathy Congenital tufting enteropathy Orphanet:92050 Congenital tufting enteropathy congenital tufting enteropathy Orphanet:92050 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym intestinal epithelial dysplasia intestinal epithelial dysplasia Intestinal epithelial dysplasia Orphanet:92050 Congenital tufting enteropathy intestinal epithelial dysplasia Orphanet:92050 @@ -6723,14 +6674,14 @@ MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly oio:hasExa MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym ALX1-related frontonasal dysplasia Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ALX1-related frontonasal dysplasia Orphanet:306542 MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym frontonasal dysplasia type 3 frontonasal dysplasia type 3 Frontonasal dysplasia type 3 Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome frontonasal dysplasia type 3 Orphanet:306542 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym 14q11.2 microdeletion syndrome Orphanet:261120 14q11.2 microdeletion syndrome 14q11.2 microdeletion syndrome Orphanet:261120 -MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 +MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym monosomy 14q11.2 monosomy 14q11.2 Monosomy 14q11.2 Orphanet:261120 14q11.2 microdeletion syndrome monosomy 14q11.2 Orphanet:261120 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym 16p13.3 microduplication syndrome Orphanet:96078 16p13.3 microduplication syndrome 16p13.3 microduplication syndrome Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal duplication 16p distal duplication 16p Distal duplication 16p Orphanet:96078 16p13.3 microduplication syndrome distal duplication 16p Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal trisomy 16p distal trisomy 16p Distal trisomy 16p Orphanet:96078 16p13.3 microduplication syndrome distal trisomy 16p Orphanet:96078 -MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) dup(16)(p13.3) Dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 +MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym telomeric duplication 16p telomeric duplication 16p Telomeric duplication 16p Orphanet:96078 16p13.3 microduplication syndrome telomeric duplication 16p Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym trisomy 16pter trisomy 16pter Trisomy 16pter Orphanet:96078 16p13.3 microduplication syndrome trisomy 16pter Orphanet:96078 MONDO:0013276 Reynolds syndrome oio:hasExactSynonym Reynolds syndrome Orphanet:779 Reynolds syndrome Reynolds syndrome Orphanet:779 @@ -6751,15 +6702,15 @@ MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type XV glycogenosis type XV Glycogenosis type XV Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenosis type XV Orphanet:263297 MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis with severe cardiomyopathy due to glycogenin deficiency glycogenosis with severe cardiomyopathy due to glycogenin deficiency Glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym 4q21 microdeletion syndrome Orphanet:238750 4q21 microdeletion syndrome 4q21 microdeletion syndrome Orphanet:238750 -MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 +MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym monosomy 4q21 monosomy 4q21 Monosomy 4q21 Orphanet:238750 4q21 microdeletion syndrome monosomy 4q21 Orphanet:238750 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 myeloproliferative syndrome Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 8p11 myeloproliferative syndrome Orphanet:168953 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym stem cell leukemia/lymphoma stem cell leukemia/lymphoma Stem cell leukemia/lymphoma Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement stem cell leukemia/lymphoma Orphanet:168953 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym 17q21.31 microduplication syndrome Orphanet:217340 17q21.31 microduplication syndrome 17q21.31 microduplication syndrome Orphanet:217340 -MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 +MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym trisomy 17q21.31 trisomy 17q21.31 Trisomy 17q21.31 Orphanet:217340 17q21.31 microduplication syndrome trisomy 17q21.31 Orphanet:217340 MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency Orphanet:91 Aromatase deficiency aromatase deficiency Orphanet:91 MONDO:0013301 aromatase deficiency oio:hasExactSynonym congenital estrogen deficiency congenital estrogen deficiency Congenital estrogen deficiency Orphanet:91 Aromatase deficiency congenital estrogen deficiency Orphanet:91 @@ -6777,8 +6728,8 @@ MONDO:0013316 occult macular dystrophy oio:hasExactSynonym occult macular dystr MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OCMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym 16p11.2p12.2 microdeletion syndrome Orphanet:261211 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome Orphanet:261211 -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym monosomy 16p11.2p12.2 monosomy 16p11.2p12.2 Monosomy 16p11.2p12.2 Orphanet:261211 16p11.2p12.2 microdeletion syndrome monosomy 16p11.2p12.2 Orphanet:261211 MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type III CDG syndrome type III CDG syndrome type IIi Orphanet:263487 COG5-CDG CDG syndrome type III Orphanet:263487 MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG-III CDG-III CDG-IIi Orphanet:263487 COG5-CDG CDG-III Orphanet:263487 @@ -6817,8 +6768,8 @@ MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym co MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym CDAN4 Orphanet:293825 Congenital dyserythropoietic anemia type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDAN4 Orphanet:293825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym 17q11 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome 17q11 microdeletion syndrome Orphanet:97685 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome NF1 microdeletion syndrome Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym monosomy 17q11 monosomy 17q11 Monosomy 17q11 Orphanet:97685 17q11 microdeletion syndrome monosomy 17q11 Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 @@ -6841,13 +6792,13 @@ MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q oio:has MONDO:0013391 sterol carrier protein 2 deficiency oio:hasExactSynonym leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym SCAR10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR10 Orphanet:284289 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) distal del(7)(q11.23) Distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 +MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal monosomy 7q11.23 distal monosomy 7q11.23 Distal monosomy 7q11.23 Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal monosomy 7q11.23 Orphanet:254351 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome oio:hasExactSynonym porencephaly-microcephaly-bilateral congenital cataract syndrome porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym 1p31p32 microdeletion syndrome Orphanet:401986 1p31p32 microdeletion syndrome 1p31p32 microdeletion syndrome Orphanet:401986 -MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Del(1)(p31p32) del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 +MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym monosomy 1p31p32 monosomy 1p31p32 Monosomy 1p31p32 Orphanet:401986 1p31p32 microdeletion syndrome monosomy 1p31p32 Orphanet:401986 MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency oio:hasExactSynonym XY sex reversal-adrenal failure Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency XY sex reversal-adrenal failure Orphanet:168558 MONDO:0013408 FADD-related immunodeficiency oio:hasExactSynonym FADD-related immunodeficiency Orphanet:306550 FADD-related immunodeficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL FADD-related immunodeficiency Orphanet:306550 @@ -6981,7 +6932,6 @@ MONDO:0013678 EDICT syndrome oio:hasExactSynonym familial keratoconus with cata MONDO:0013678 EDICT syndrome oio:hasExactSynonym KTCNCT Orphanet:293936 EDICT syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KTCNCT Orphanet:293936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 12 autosomal recessive spinocerebellar ataxia type 12 Autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym SCAR12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR12 Orphanet:284282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym pigmented hairy Epidermal Nevus pigmented hairy Epidermal Nevus Pigmented hairy epidermal nevus Orphanet:64755 Becker nevus syndrome pigmented hairy Epidermal Nevus Orphanet:64755 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Brunner-Winter syndrome type 2 Orphanet:391646 Feingold syndrome type 2 Brunner-Winter syndrome type 2 Orphanet:391646 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Feingold syndrome type 2 Orphanet:391646 Feingold syndrome type 2 Feingold syndrome type 2 Orphanet:391646 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym MMT type 2 Orphanet:391646 Feingold syndrome type 2 MMT type 2 Orphanet:391646 @@ -7067,8 +7017,8 @@ MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSyn MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSynonym HSAN6 Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN6 Orphanet:314381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oio:hasExactSynonym meconium ileus due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Proximal 16p11.2 microduplication syndrome Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Orphanet:370079 -MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 +MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal trisomy 16p11.2 proximal trisomy 16p11.2 Proximal trisomy 16p11.2 Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal trisomy 16p11.2 Orphanet:370079 MONDO:0013851 autosomal dominant aplasia and myelodysplasia oio:hasExactSynonym autosomal dominant aplastic anemia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Autosomal dominant aplasia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 MONDO:0013858 pontine tegmental cap dysplasia oio:hasExactSynonym pontine tegmental cap dysplasia pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Orphanet:269229 Pontine tegmental cap dysplasia pontine tegmental cap dysplasia Orphanet:269229 @@ -7164,7 +7114,6 @@ MONDO:0013990 pontocerebellar hypoplasia type 8 oio:hasExactSynonym PCH8 Orph MONDO:0013992 obesity due to leptin receptor gene deficiency oio:hasExactSynonym obesity due to leptin receptor gene deficiency obesity due to leptin receptor gene deficiency Obesity due to leptin receptor gene deficiency Orphanet:179494 Obesity due to leptin receptor gene deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL obesity due to leptin receptor gene deficiency Orphanet:179494 MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym pontocerebellar hypoplasia-46,XY disorder of sex development syndrome pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 Pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 Orphanet:284339 Pontocerebellar hypoplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH7 Orphanet:284339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome Setleis syndrome Orphanet:1807 Focal facial dermal dysplasia type III Setleis Syndrome Orphanet:1807 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD type II Orphanet:398173 Focal facial dermal dysplasia type II FFDD type II Orphanet:398173 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 Focal facial dermal dysplasia type II focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 Orphanet:398173 Focal facial dermal dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FFDD2 Orphanet:398173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7360,8 +7309,8 @@ MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynon MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym NBIA6 Orphanet:397725 COASY protein-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA6 Orphanet:397725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome 15q11.2 microdeletion syndrome Orphanet:261183 -MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 +MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym monosomy 15q11.2 monosomy 15q11.2 Monosomy 15q11.2 Orphanet:261183 15q11.2 microdeletion syndrome monosomy 15q11.2 Orphanet:261183 MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 57 Orphanet:431329 Autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Orphanet:431329 MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym spastic paraplegia due to partial TFG deficiency spastic paraplegia due to partial TFG deficiency Spastic paraplegia due to partial TFG deficiency Orphanet:431329 Autosomal recessive spastic paraplegia type 57 spastic paraplegia due to partial TFG deficiency Orphanet:431329 @@ -7585,8 +7534,6 @@ MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym progres MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 Orphanet:457265 Progressive myoclonic epilepsy type 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM9 Orphanet:457265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oio:hasExactSynonym Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oio:hasExactSynonym microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Au-Kline syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Au-Kline syndrome Orphanet:453499 -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Okamoto syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Okamoto syndrome Orphanet:453499 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym SED, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type SED, Stanescu type Orphanet:459051 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B oio:hasExactSynonym AR-SPG9B Orphanet:447760 Autosomal recessive spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-SPG9B Orphanet:447760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7609,8 +7556,8 @@ MONDO:0014722 Roifman syndrome oio:hasExactSynonym Roifman syndrome Orphanet: MONDO:0014722 Roifman syndrome oio:hasExactSynonym spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 Roifman syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym 17p11.2p12 microduplication syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome 17p11.2p12 microduplication syndrome Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym Yuan-Harel-Lupski syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome Yuan-Harel-Lupski syndrome Orphanet:477817 -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2-p12 trisomy 17p11.2-p12 Trisomy 17p11.2-p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome trisomy 17p11.2-p12 Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2p12 trisomy 17p11.2p12 Trisomy 17p11.2p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome trisomy 17p11.2p12 Orphanet:477817 MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oio:hasExactSynonym ASCT1 deficiency Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ASCT1 deficiency Orphanet:447997 @@ -7705,7 +7652,6 @@ MONDO:0014855 intellectual disability, autosomal dominant 42 oio:hasExactSynonym MONDO:0014856 combined oxidative phosphorylation defect type 30 oio:hasExactSynonym COXPD30 Orphanet:478042 Combined oxidative phosphorylation defect type 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD30 Orphanet:478042 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart oio:hasExactSynonym rere-related neurodevelopmental syndrome rere-related neurodevelopmental syndrome RERE-related neurodevelopmental syndrome Orphanet:494344 RERE-related neurodevelopmental syndrome rere-related neurodevelopmental syndrome Orphanet:494344 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym DNAJB2-related CMT2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 DNAJB2-related CMT2 Orphanet:443950 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym spinocerebellar ataxia type 43 spinocerebellar ataxia type 43 Spinocerebellar ataxia type 43 Orphanet:497764 Spinocerebellar ataxia type 43 spinocerebellar ataxia type 43 Orphanet:497764 MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym SCA43 Orphanet:497764 Spinocerebellar ataxia type 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA43 Orphanet:497764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014870 NEK9-related lethal skeletal dysplasia oio:hasExactSynonym lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 NEK9-related lethal skeletal dysplasia lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 @@ -7788,7 +7734,6 @@ MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oi MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym Raas-blocker-induced angioneurotic edema Raas-blocker-induced angioneurotic edema RAAS-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema Raas-blocker-induced angioneurotic edema Orphanet:100057 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAE Orphanet:100057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAE Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of PPA Orphanet:100070 Progressive non-fluent aphasia Agramatic variant of PPA Orphanet:100070 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of primary progressive aphasia Orphanet:100070 Progressive non-fluent aphasia Agramatic variant of primary progressive aphasia Orphanet:100070 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym non-fluent variant PPA non-fluent variant PPA Non-fluent variant PPA Orphanet:100070 Progressive non-fluent aphasia non-fluent variant PPA Orphanet:100070 @@ -7823,9 +7768,6 @@ MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus art MONDO:0015104 porphyria cutanea tarda oio:hasExactSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym chronic adrenocorticoid insufficiency chronic adrenocorticoid insufficiency Chronic adrenocorticoid insufficiency Orphanet:101959 Chronic primary adrenal insufficiency chronic adrenocorticoid insufficiency Orphanet:101959 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym CPAI Orphanet:101959 Chronic primary adrenal insufficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPAI Orphanet:101959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Orphanet:85138 Addison disease Addison disease Orphanet:85138 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison disease autoimmune Addison disease Autoimmune Addison disease Orphanet:85138 Addison disease autoimmune Addison disease Orphanet:85138 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease autoimmune adrenalitis Orphanet:85138 MONDO:0015134 constitutional neutropenia oio:hasExactSynonym congenital neutropenia congenital neutropenia Congenital neutropenia Orphanet:101987 Congenital neutropenia congenital neutropenia Orphanet:101987 MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym early-onset familial autosomal dominant Alzheimer disease early-onset familial autosomal dominant Alzheimer disease Early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 Early-onset autosomal dominant Alzheimer disease early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym EOFAD Orphanet:1020 Early-onset autosomal dominant Alzheimer disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOFAD Orphanet:1020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7865,7 +7807,6 @@ MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynony MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynonym maltase-glucoamylase deficiency maltase-glucoamylase deficiency Maltase-glucoamylase deficiency Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency maltase-glucoamylase deficiency Orphanet:103907 MONDO:0015170 congenital sodium diarrhea oio:hasExactSynonym Na-H exchange deficiency Orphanet:103908 Congenital sodium diarrhea Na-H exchange deficiency Orphanet:103908 MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 Metaphyseal anadysplasia Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym regressive metaphyseal dysplasia regressive metaphyseal dysplasia Regressive metaphyseal dysplasia Orphanet:1040 Metaphyseal anadysplasia regressive metaphyseal dysplasia Orphanet:1040 MONDO:0015193 hydrops fetalis oio:hasExactSynonym fetal anasarca fetal anasarca Fetal anasarca Orphanet:1041 Hydrops fetalis fetal anasarca Orphanet:1041 @@ -7927,7 +7868,6 @@ MONDO:0015263 Brugada syndrome oio:hasExactSynonym idiopathic ventricular fibri MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome Orphanet:130 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome Orphanet:130 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organizing pneumonia bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia Orphanet:1302 Cryptogenic organizing pneumonia bronchiolitis obliterans organizing pneumonia Orphanet:1302 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym COP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOOP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans constrictive bronchiolitis Orphanet:1303 MONDO:0015267 Feingold syndrome oio:hasExactSynonym Brunner-Winter syndrome Orphanet:1305 Feingold syndrome Brunner-Winter syndrome Orphanet:1305 MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome Orphanet:1305 Feingold syndrome MODED syndrome Orphanet:1305 @@ -8026,7 +7966,6 @@ MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:has MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy autosomal recessive distal spinal muscular atrophy Autosomal recessive distal spinal muscular atrophy Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy autosomal recessive distal spinal muscular atrophy Orphanet:140468 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy Orphanet:140471 Hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Orphanet:140471 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym HSAN Orphanet:140471 Hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN Orphanet:140471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym Joubert syndrome and related disorders Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome and related disorders Orphanet:140874 MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym JSRD Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JSRD Orphanet:140874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015374 primary central nervous system vasculitis oio:hasExactSynonym isolated angiitis of the central nervous system isolated angiitis of the central nervous system Isolated angiitis of the central nervous system Orphanet:140989 Primary angiitis of the central nervous system isolated angiitis of the central nervous system Orphanet:140989 @@ -8039,7 +7978,6 @@ MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome Orphanet:140997 Orofaciodigital syndrome oral-facial-digital syndrome Orphanet:140997 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome Orphanet:140997 Orofaciodigital syndrome orofaciodigital syndrome Orphanet:140997 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst Orphanet:141013 First branchial cleft anomaly first branchial cleft cyst Orphanet:141013 MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft fistula first branchial cleft fistula First branchial cleft fistula Orphanet:141013 First branchial cleft anomaly first branchial cleft fistula Orphanet:141013 MONDO:0015377 third branchial cleft anomaly oio:hasExactSynonym third branchial cleft cyst third branchial cleft cyst Third branchial cleft cyst Orphanet:141030 Third branchial cleft anomaly third branchial cleft cyst Orphanet:141030 @@ -8101,8 +8039,8 @@ MONDO:0015430 ring chromosome 1 oio:hasExactSynonym r(1) syndrome Orphanet:14 MONDO:0015436 ring chromosome 20 oio:hasExactSynonym ring chromosome 20 syndrome ring chromosome 20 syndrome Ring chromosome 20 syndrome Orphanet:1444 Ring chromosome 20 syndrome ring chromosome 20 syndrome Orphanet:1444 MONDO:0015438 ring chromosome 22 oio:hasExactSynonym r(22) syndrome Orphanet:1446 Ring chromosome 22 syndrome r(22) syndrome Orphanet:1446 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym r(4) syndrome Orphanet:1447 Ring chromosome 4 syndrome r(4) syndrome Orphanet:1447 -MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) syndrome r(4) Syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 +MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym Ring 8 Orphanet:1450 Ring chromosome 8 syndrome Ring 8 Orphanet:1450 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym r(8) syndrome Orphanet:1450 Ring chromosome 8 syndrome r(8) syndrome Orphanet:1450 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym ring chromosome 8 ring chromosome 8 Ring chromosome 8 Orphanet:1450 Ring chromosome 8 syndrome ring chromosome 8 Orphanet:1450 @@ -8128,7 +8066,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym CSS Orphanet:1465 Cof MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome Orphanet:1467 Cogan syndrome Cogan syndrome Orphanet:1467 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency multiple carboxylase deficiency Orphanet:148 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oio:hasExactSynonym Da Silva syndrome Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Da Silva syndrome Orphanet:1495 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma Orphanet:150 Nasopharyngeal carcinoma nasopharyngeal carcinoma Orphanet:150 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasopharynx squamous cell carcinoma of the nasopharynx Squamous cell carcinoma of the nasopharynx Orphanet:150 Nasopharyngeal carcinoma squamous cell carcinoma of the nasopharynx Orphanet:150 @@ -8237,7 +8174,6 @@ MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym localized pu MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris palmoplantar pustulosis Orphanet:163927 MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym PPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:525 Lichen planopilaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015600 X-linked intellectual disability, Cilliers type oio:hasExactSynonym X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 X-linked intellectual disability, Cilliers type X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 MONDO:0015605 distal monosomy 9p oio:hasExactSynonym distal deletion 9p distal deletion 9p Distal deletion 9p Orphanet:1642 Distal deletion 9p distal deletion 9p Orphanet:1642 MONDO:0015605 distal monosomy 9p oio:hasExactSynonym monosomy 9pter monosomy 9pter Monosomy 9pter Orphanet:1642 Distal deletion 9p monosomy 9pter Orphanet:1642 @@ -8457,12 +8393,10 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015923 acquired peripheral neuropathy oio:hasExactSynonym acquired peripheral neuropathy acquired peripheral neuropathy Acquired peripheral neuropathy Orphanet:182086 Acquired peripheral neuropathy acquired peripheral neuropathy Orphanet:182086 MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym pulmonary arterial hypertension pulmonary arterial hypertension Pulmonary arterial hypertension Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pulmonary arterial hypertension Orphanet:182090 MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAH Orphanet:182090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:99083 Pulmonary artery hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAH Orphanet:99083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015925 interstitial lung disease oio:hasExactSynonym interstitial lung disease interstitial lung disease Interstitial lung disease Orphanet:182095 Interstitial lung disease interstitial lung disease Orphanet:182095 MONDO:0015925 interstitial lung disease oio:hasExactSynonym ILD Orphanet:182095 Interstitial lung disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ILD Orphanet:182095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome oio:hasExactSynonym Finucane-Kurtz-Scott syndrome Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Finucane-Kurtz-Scott syndrome Orphanet:1825 MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia Orphanet:1826 Frontometaphyseal dysplasia frontometaphyseal dysplasia Orphanet:1826 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym CSS Orphanet:1465 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSS Orphanet:1465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym Churg-Strauss syndrome Orphanet:183 Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome Orphanet:183 MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym granulomatous allergic angiitis granulomatous allergic angiitis Granulomatous allergic angiitis Orphanet:183 Eosinophilic granulomatosis with polyangiitis granulomatous allergic angiitis Orphanet:183 MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym EGPA Orphanet:183 Eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EGPA Orphanet:183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8481,7 +8415,6 @@ MONDO:0015987 scimitar syndrome oio:hasExactSynonym congenital pulmonary venolo MONDO:0015987 scimitar syndrome oio:hasExactSynonym hypogenetic lung syndrome hypogenetic lung syndrome Hypogenetic lung syndrome Orphanet:185 Scimitar syndrome hypogenetic lung syndrome Orphanet:185 MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym multicystic renal dysplasia multicystic renal dysplasia Multicystic renal dysplasia Orphanet:1851 Multicystic dysplastic kidney multicystic renal dysplasia Orphanet:1851 MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym MCDK Orphanet:1851 Multicystic dysplastic kidney http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCDK Orphanet:1851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym CRD Orphanet:71 Chylomicron retention disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRD Orphanet:71 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym MSBD syndrome Orphanet:1879 Melorheostosis with osteopoikilosis MSBD syndrome Orphanet:1879 MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym mixed sclerosing bone dystrophy mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy Orphanet:1879 Melorheostosis with osteopoikilosis mixed sclerosing bone dystrophy Orphanet:1879 MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome oio:hasExactSynonym noble-Bass-Sherman syndrome noble-Bass-Sherman syndrome Noble-Bass-Sherman syndrome Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome noble-Bass-Sherman syndrome Orphanet:1884 @@ -8550,7 +8483,6 @@ MONDO:0016045 tetragametic chimerism oio:hasExactSynonym 46,XX/46,XY chimerism MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 Cleft lip-retinopathy syndrome Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-cone rod dystrophy syndrome cleft lip-cone rod dystrophy syndrome Cleft lip-cone rod dystrophy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome cleft lip-cone rod dystrophy syndrome Orphanet:1995 MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-progressive retinopathy syndrome cleft lip-progressive retinopathy syndrome Cleft lip-progressive retinopathy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome cleft lip-progressive retinopathy syndrome Orphanet:1995 -MONDO:0016056 isolated congenital microcephaly oio:hasExactSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly true microcephaly Orphanet:2512 MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome oio:hasExactSynonym Lowry-Yong syndrome Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome Lowry-Yong syndrome Orphanet:2003 MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Orphanet:2004 Laryngotracheoesophageal cleft laryngo-tracheo-esophageal cleft Orphanet:2004 MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal diastema laryngo-tracheo-esophageal diastema Laryngo-tracheo-esophageal diastema Orphanet:2004 Laryngotracheoesophageal cleft laryngo-tracheo-esophageal diastema Orphanet:2004 @@ -8587,8 +8519,6 @@ MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency oio:hasE MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, classic form Orphanet:206436 Infantile Krabbe disease Krabbe disease, classic form Orphanet:206436 MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, early-onset Orphanet:206436 Infantile Krabbe disease Krabbe disease, early-onset Orphanet:206436 MONDO:0016090 late-infantile/juvenile Krabbe disease oio:hasExactSynonym Krabbe disease, late-onset Orphanet:206443 Late-infantile/juvenile Krabbe disease Krabbe disease, late-onset Orphanet:206443 -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym serous cystadenoma of ovary in childhood serous cystadenoma of ovary in childhood Serous cystadenoma of ovary in childhood Orphanet:563666 Serous cystadenoma of childhood serous cystadenoma of ovary in childhood Orphanet:563666 -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym mucinous cystadenoma of ovary in childhood mucinous cystadenoma of ovary in childhood Mucinous cystadenoma of ovary in childhood Orphanet:563671 Mucinous cystadenoma of childhood mucinous cystadenoma of ovary in childhood Orphanet:563671 MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym vaginal germ cell cancer vaginal germ cell cancer Vaginal germ cell cancer Orphanet:206489 Malignant germ cell tumor of the vagina vaginal germ cell cancer Orphanet:206489 MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary oio:hasExactSynonym non-dysgerminomatous germ cell cancer of ovary non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 MONDO:0016098 immune-mediated necrotizing myopathy oio:hasExactSynonym anti-HMG-CoA myopathy anti-HMG-CoA myopathy Anti-HMG-CoA myopathy Orphanet:206569 Immune-mediated necrotizing myopathy anti-HMG-CoA myopathy Orphanet:206569 @@ -8607,16 +8537,12 @@ MONDO:0016105 acquired skeletal muscle disease oio:hasExactSynonym acquired ske MONDO:0016106 progressive muscular dystrophy oio:hasExactSynonym progressive muscular dystrophy progressive muscular dystrophy Progressive muscular dystrophy Orphanet:206644 Progressive muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL progressive muscular dystrophy Orphanet:206644 MONDO:0016112 hereditary inclusion-body myopathy oio:hasExactSynonym inclusion myopathy inclusion myopathy Inclusion myopathy Orphanet:206662 Inclusion myopathy inclusion myopathy Orphanet:206662 MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym bulbospinal muscular atrophy bulbospinal muscular atrophy Bulbospinal muscular atrophy Orphanet:206701 Bulbospinal muscular atrophy bulbospinal muscular atrophy Orphanet:206701 -MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym SBMA Orphanet:481 Kennedy disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SBMA Orphanet:481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016122 periodic paralysis oio:hasExactSynonym periodic paralysis periodic paralysis Periodic paralysis Orphanet:206976 Periodic paralysis periodic paralysis Orphanet:206976 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic enteritis eosinophilic enteritis Eosinophilic enteritis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic enteritis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic gastroenteritis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic gastroenteritis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenterocolitis eosinophilic gastroenterocolitis Eosinophilic gastroenterocolitis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic gastroenterocolitis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym EGE Orphanet:2070 Eosinophilic gastroenteritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EGE Orphanet:2070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016140 sarcoglycanopathy oio:hasExactSynonym qualitative or quantitative defects of sarcoglycan qualitative or quantitative defects of sarcoglycan Qualitative or quantitative defects of sarcoglycan Orphanet:207052 Qualitative or quantitative defects of sarcoglycan qualitative or quantitative defects of sarcoglycan Orphanet:207052 -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan oio:hasExactSynonym alpha-sarcoglycanopathy alpha-sarcoglycanopathy Alpha-sarcoglycanopathy Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 alpha-sarcoglycanopathy Orphanet:62 -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan oio:hasExactSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 beta-sarcoglycanopathy Orphanet:119 -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan oio:hasExactSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 delta-sarcoglycanopathy Orphanet:219 MONDO:0016145 qualitative or quantitative defects of dysferlin oio:hasExactSynonym dysferlinopathy dysferlinopathy Dysferlinopathy Orphanet:207073 Qualitative or quantitative defects of dysferlin dysferlinopathy Orphanet:207073 MONDO:0016146 caveolinopathy oio:hasExactSynonym qualitative or quantitative defects of caveolin-3 qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of caveolin-3 Orphanet:207078 Qualitative or quantitative defects of caveolin-3 qualitative or quantitative defects of caveolin-3 Orphanet:207078 MONDO:0016147 qualitative or quantitative defects of dystrophin oio:hasExactSynonym dystrophinopathy dystrophinopathy Dystrophinopathy Orphanet:207085 Qualitative or quantitative defects of dystrophin dystrophinopathy Orphanet:207085 @@ -8869,19 +8795,19 @@ MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym pi MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym trichodysplasia spinulosa trichodysplasia spinulosa Trichodysplasia spinulosa Orphanet:228379 Virus-associated trichodysplasia spinulosa trichodysplasia spinulosa Orphanet:228379 MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym VATS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VATS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Del(5)(q14.3) del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 +MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym monosomy 5q14.3 monosomy 5q14.3 Monosomy 5q14.3 Orphanet:228384 5q14.3 microdeletion syndrome monosomy 5q14.3 Orphanet:228384 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) dup(8)(q12) Dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome dup(8)(q12) Orphanet:228399 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome dup(8)(q12) Orphanet:228399 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym trisomy 8q12 trisomy 8q12 Trisomy 8q12 Orphanet:228399 8q12 microduplication syndrome trisomy 8q12 Orphanet:228399 -MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 +MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q23.1 monosomy 2q23.1 Monosomy 2q23.1 Orphanet:228402 2q23.1 microdeletion syndrome monosomy 2q23.1 Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym pseudo-Angelman syndrome pseudo-Angelman syndrome Pseudo-Angelman syndrome Orphanet:228402 2q23.1 microdeletion syndrome pseudo-Angelman syndrome Orphanet:228402 MONDO:0016460 polyvalvular heart disease syndrome oio:hasExactSynonym PHD syndrome Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome PHD syndrome Orphanet:228410 -MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 +MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym trisomy 5q35 trisomy 5q35 Trisomy 5q35 Orphanet:228415 5q35 microduplication syndrome trisomy 5q35 Orphanet:228415 MONDO:0016462 isolated agammaglobulinemia oio:hasExactSynonym isolated hypogammaglobulinemia isolated hypogammaglobulinemia Isolated hypogammaglobulinemia Orphanet:229717 Isolated agammaglobulinemia isolated hypogammaglobulinemia Orphanet:229717 MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym syndromic agammaglobulinemia syndromic agammaglobulinemia Syndromic agammaglobulinemia Orphanet:229720 Syndromic agammaglobulinemia syndromic agammaglobulinemia Orphanet:229720 @@ -8900,8 +8826,8 @@ MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predis MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym RTPS Orphanet:231108 Rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTPS Orphanet:231108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym DILE Orphanet:231111 Drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DILE Orphanet:231111 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 +MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oio:hasExactSynonym UPD(11)mat Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 UPD(11)mat Orphanet:231147 @@ -9007,7 +8933,6 @@ MONDO:0016571 macrocephaly-short stature-paraplegia syndrome oio:hasExactSynonym MONDO:0016573 acute fatty liver of pregnancy oio:hasExactSynonym AFLP Orphanet:243367 Acute fatty liver of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFLP Orphanet:243367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oio:hasExactSynonym Westerhof-Beemer-Cormane syndrome Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Westerhof-Beemer-Cormane syndrome Orphanet:2435 MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly ectrodactyly Ectrodactyly Orphanet:2440 Isolated split hand-split foot malformation ectrodactyly Orphanet:2440 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split hand foot malformation split hand foot malformation Split hand foot malformation Orphanet:2440 Isolated split hand-split foot malformation split hand foot malformation Orphanet:2440 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym SHFM Orphanet:2440 Isolated split hand-split foot malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SHFM Orphanet:2440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9082,7 +9007,6 @@ MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym median cleft face syndr MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic primary progressive aphasia Orphanet:250831 Logopenic progressive aphasia Logopenic primary progressive aphasia Orphanet:250831 MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic variant PPA Orphanet:250831 Logopenic progressive aphasia Logopenic variant PPA Orphanet:250831 MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:250831 Logopenic progressive aphasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPA Orphanet:250831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:658574 Isolated pulmonary artery sling http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPA Orphanet:658574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia Polyepiphyseal dysplasia Orphanet:251 MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym polyepiphyseal dysplasia polyepiphyseal dysplasia Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia polyepiphyseal dysplasia Orphanet:251 MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym multiple epiphyseal dysplasia multiple epiphyseal dysplasia Multiple epiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple epiphyseal dysplasia Orphanet:251 @@ -9093,23 +9017,23 @@ MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome micro s MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym WARBM Orphanet:2510 Micro syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WARBM Orphanet:2510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016650 paternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)pat Orphanet:251004 Paternal uniparental disomy of chromosome 1 UPD(1)pat Orphanet:251004 MONDO:0016651 maternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)mat Orphanet:251009 Maternal uniparental disomy of chromosome 1 UPD(1)mat Orphanet:251009 -MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 +MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q31.1 monosomy 2q31.1 Monosomy 2q31.1 Orphanet:251014 2q31.1 microdeletion syndrome monosomy 2q31.1 Orphanet:251014 -MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Del(2)(q33.1) del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 +MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q33.1 monosomy 2q33.1 Monosomy 2q33.1 Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement monosomy 2q33.1 Orphanet:251028 -MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Del(6)(p22) del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 +MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym monosomy 6p22 monosomy 6p22 Monosomy 6p22 Orphanet:251046 6p22 microdeletion syndrome monosomy 6p22 Orphanet:251046 -MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Del(7)(q31) del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 +MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym monosomy 7q31 monosomy 7q31 Monosomy 7q31 Orphanet:251061 7q31 microdeletion syndrome monosomy 7q31 Orphanet:251061 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Del(8)(p11.2) del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome Del(8)(p11.2) Orphanet:251066 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome Del(8)(p11.2) Orphanet:251066 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym monosomy 8p11.2 monosomy 8p11.2 Monosomy 8p11.2 Orphanet:251066 8p11.2 deletion syndrome monosomy 8p11.2 Orphanet:251066 -MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Del(8)(p23.1) del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 +MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym monosomy 8p23.1 monosomy 8p23.1 Monosomy 8p23.1 Orphanet:251071 8p23.1 microdeletion syndrome monosomy 8p23.1 Orphanet:251071 MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) dup(8)(p23.1p23.1) Dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome dup(8)(p23.1p23.1) Orphanet:251076 MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome dup(8)(p23.1p23.1) Orphanet:251076 @@ -9219,10 +9143,10 @@ MONDO:0016776 frontal fibrosing alopecia oio:hasExactSynonym FFA Orphanet:254 MONDO:0016777 inhalational botulism oio:hasExactSynonym inhalation botulism inhalation botulism Inhalation botulism Orphanet:254504 Inhalational botulism inhalation botulism Orphanet:254504 MONDO:0016778 iatrogenic botulism oio:hasExactSynonym inadvertent botulism inadvertent botulism Inadvertent botulism Orphanet:254509 Iatrogenic botulism inadvertent botulism Orphanet:254509 MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect oio:hasExactSynonym Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome Kagami-Ogata syndrome Orphanet:254519 -MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 -MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 +MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) maternal del(14)(q32.2) Maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 +MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal monosomy 14q32.2 maternal monosomy 14q32.2 Maternal monosomy 14q32.2 Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal monosomy 14q32.2 Orphanet:254528 MONDO:0016785 complete hydatidiform mole oio:hasExactSynonym complete molar pregnancy complete molar pregnancy Complete molar pregnancy Orphanet:254688 Complete hydatidiform mole complete molar pregnancy Orphanet:254688 MONDO:0016786 partial hydatidiform mole oio:hasExactSynonym incomplete hydatidiform mole incomplete hydatidiform mole Incomplete hydatidiform mole Orphanet:254693 Partial hydatidiform mole incomplete hydatidiform mole Orphanet:254693 @@ -9260,8 +9184,8 @@ MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreif MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym EDMD Orphanet:261 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDMD Orphanet:261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016831 linear verrucous nevus syndrome oio:hasExactSynonym linear hamartoma syndrome linear hamartoma syndrome Linear hamartoma syndrome Orphanet:2611 Linear verrucous nevus syndrome linear hamartoma syndrome Orphanet:2611 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym Dup7q11.23D Orphanet:261102 Distal 7q11.23 microduplication syndrome Dup7q11.23D Orphanet:261102 -MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) distal dup(7)(q11.23) Distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 +MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal trisomy 7q11.23 distal trisomy 7q11.23 Distal trisomy 7q11.23 Orphanet:261102 Distal 7q11.23 microduplication syndrome distal trisomy 7q11.23 Orphanet:261102 MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion Del(14)(q12) Orphanet:261144 MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Del(14)(q12) del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion Del(14)(q12) Orphanet:261144 @@ -9269,23 +9193,23 @@ MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym monosomy 14q12 m MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) dup(16)(p11.2p12.2) Dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome dup(16)(p11.2p12.2) Orphanet:261204 MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome dup(16)(p11.2p12.2) Orphanet:261204 MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym trisomy 16p11.2p12.2 trisomy 16p11.2p12.2 Trisomy 16p11.2p12.2 Orphanet:261204 16p11.2p12.2 microduplication syndrome trisomy 16p11.2p12.2 Orphanet:261204 -MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 +MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym trisomy 14q11.2 trisomy 14q11.2 Trisomy 14q11.2 Orphanet:261229 14q11.2 microduplication syndrome trisomy 14q11.2 Orphanet:261229 -MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Del(16)(p13.11) del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 +MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym monosomy 16p13.11 monosomy 16p13.11 Monosomy 16p13.11 Orphanet:261236 16p13.11 microdeletion syndrome monosomy 16p13.11 Orphanet:261236 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome dup(16)(p13.11) Orphanet:261243 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) dup(16)(p13.11) Dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome dup(16)(p13.11) Orphanet:261243 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym trisomy 16p13.11 trisomy 16p13.11 Trisomy 16p13.11 Orphanet:261243 16p13.11 microduplication syndrome trisomy 16p13.11 Orphanet:261243 -MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Del(16)(q24.3) del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 +MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.3 monosomy 16q24.3 Monosomy 16q24.3 Orphanet:261250 16q24.3 microdeletion syndrome monosomy 16q24.3 Orphanet:261250 MONDO:0016839 distal 17p13.3 microdeletion syndrome oio:hasExactSynonym distal monosomy 17p13.3 distal monosomy 17p13.3 Distal monosomy 17p13.3 Orphanet:261257 Distal 17p13.3 microdeletion syndrome distal monosomy 17p13.3 Orphanet:261257 MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) Orphanet:261290 Trisomy 17p dup(17p) Orphanet:261290 MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) dup(17p) Dup(17p) Orphanet:261290 Trisomy 17p dup(17p) Orphanet:261290 -MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Del(20)(p12.3) del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 +MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym monosomy 20p12.3 monosomy 20p12.3 Monosomy 20p12.3 Orphanet:261295 20p12.3 microdeletion syndrome monosomy 20p12.3 Orphanet:261295 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) Orphanet:261304 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) paternal del(20)(q13.2q13.3) Paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) Orphanet:261304 @@ -9294,18 +9218,18 @@ MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.3 MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome Del(20)(q13.33) Orphanet:261311 MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym monosomy 20q13.33 monosomy 20q13.33 Monosomy 20q13.33 Orphanet:261311 20q13.33 microdeletion syndrome monosomy 20q13.33 Orphanet:261311 MONDO:0016844 trisomy 20p oio:hasExactSynonym Duplication of 20p Orphanet:261318 Trisomy 20p Duplication of 20p Orphanet:261318 -MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) dup(20p) Dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 +MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of chromosome 20p partial duplication of chromosome 20p Partial duplication of chromosome 20p Orphanet:261318 Trisomy 20p partial duplication of chromosome 20p Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of the short arm of chromosome 20 partial duplication of the short arm of chromosome 20 Partial duplication of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p partial duplication of the short arm of chromosome 20 Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of chromosome 20p partial trisomy of chromosome 20p Partial trisomy of chromosome 20p Orphanet:261318 Trisomy 20p partial trisomy of chromosome 20p Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of the short arm of chromosome 20 partial trisomy of the short arm of chromosome 20 Partial trisomy of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p partial trisomy of the short arm of chromosome 20 Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym trisomy 20p trisomy 20p Trisomy 20p Orphanet:261318 Trisomy 20p trisomy 20p Orphanet:261318 -MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 +MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym monosomy 21q22.11q22.12 monosomy 21q22.11q22.12 Monosomy 21q22.11q22.12 Orphanet:261323 21q22.11q22.12 microdeletion syndrome monosomy 21q22.11q22.12 Orphanet:261323 -MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) distal dup(22)(q11.2) Distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 +MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal trisomy 22q11.2 distal trisomy 22q11.2 Distal trisomy 22q11.2 Orphanet:261337 Distal 22q11.2 microduplication syndrome distal trisomy 22q11.2 Orphanet:261337 MONDO:0016847 trisomy 1q oio:hasExactSynonym Duplication 1q Orphanet:261344 Trisomy 1q Duplication 1q Orphanet:261344 MONDO:0016848 juvenile temporal arteritis oio:hasExactSynonym non-giant cell granulomatous temporal arteritis with eosinophilia non-giant cell granulomatous temporal arteritis with eosinophilia Non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Juvenile temporal arteritis non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 @@ -9322,17 +9246,17 @@ MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hi MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation oio:hasExactSynonym Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym FAP due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion FAP due to monosomy 5q22.2 Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym colorectal adenomatous polyposis due to monosomy 5q22.2 colorectal adenomatous polyposis due to monosomy 5q22.2 Colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to monosomy 5q22.2 familial adenomatous polyposis due to monosomy 5q22.2 Familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial polyposis coli due to monosomy 5q22.2 familial polyposis coli due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Alagille syndrome due to del(20)(p12) alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to monosomy 20p12 Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 @@ -9342,8 +9266,8 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym syndromic bile duct paucity due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation Syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym Alagille syndrome due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alagille syndrome due to a JAG1 point mutation Orphanet:261619 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 +MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to monosomy 20q13 Orphanet:261638 MONDO:0016864 Okihiro syndrome due to a point mutation oio:hasExactSynonym Duane-radial ray syndrome due to a point mutation Orphanet:261647 Okihiro syndrome due to a point mutation Duane-radial ray syndrome due to a point mutation Orphanet:261647 MONDO:0016866 partial deletion of chromosome 1 oio:hasExactSynonym partial monosomy of chromosome 1 partial monosomy of chromosome 1 Partial monosomy of chromosome 1 Orphanet:261766 Partial deletion of chromosome 1 partial monosomy of chromosome 1 Orphanet:261766 @@ -9577,7 +9501,6 @@ MONDO:0016984 nevus of Ota oio:hasExactSynonym Nevus fusculoceruleus ophthalmom MONDO:0016985 nevus of Ito oio:hasExactSynonym nevus fuscocaeruleus acromiodeltoideus nevus fuscocaeruleus acromiodeltoideus Nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 Nevus of Ito nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 MONDO:0016988 hyperinsulinism due to HNF4A deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to HNF4A deficiency hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired hypoprothrombinemia acquired hypoprothrombinemia Acquired hypoprothrombinemia Orphanet:26348 Acquired prothrombin deficiency acquired hypoprothrombinemia Orphanet:26348 MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired prothrombin deficiency acquired prothrombin deficiency Acquired prothrombin deficiency Orphanet:26348 Acquired prothrombin deficiency acquired prothrombin deficiency Orphanet:26348 MONDO:0016991 acute necrotizing encephalopathy of childhood oio:hasExactSynonym isolated ANE isolated ANE Isolated ANE Orphanet:263524 Acute necrotizing encephalopathy of childhood isolated ANE Orphanet:263524 @@ -9601,7 +9524,6 @@ MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSy MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial duplication of chromosome 1p partial duplication of chromosome 1p Partial duplication of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1p Orphanet:264431 MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial trisomy of chromosome 1p partial trisomy of chromosome 1p Partial trisomy of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 partial trisomy of chromosome 1p Orphanet:264431 MONDO:0017013 trisomy 8p oio:hasExactSynonym Duplication 8p Orphanet:264450 Trisomy 8p Duplication 8p Orphanet:264450 -MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym chILD syndrome chILD syndrome CHILD syndrome Orphanet:139 CHILD syndrome chILD syndrome Orphanet:139 MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym ILD specific to childhood Orphanet:264656 Interstitial lung disease specific to childhood ILD specific to childhood Orphanet:264656 MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary ILD specific to childhood primary ILD specific to childhood Primary ILD specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood primary ILD specific to childhood Orphanet:264665 MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary interstitial lung disease specific to childhood primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood primary interstitial lung disease specific to childhood Orphanet:264665 @@ -9700,11 +9622,10 @@ MONDO:0017176 Machado-Joseph disease type 3 oio:hasExactSynonym spinocerebellar MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome oio:hasExactSynonym HHML Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHML Orphanet:276280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym König disease Orphanet:2764 Osteochondritis dissecans König disease Orphanet:2764 MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis dissecans Orphanet:2764 Osteochondritis dissecans osteochondritis dissecans Orphanet:2764 -MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 +MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym trisomy 10q22.3q23.3 trisomy 10q22.3q23.3 Trisomy 10q22.3q23.3 Orphanet:276422 10q22.3q23.3 microduplication syndrome trisomy 10q22.3q23.3 Orphanet:276422 MONDO:0017181 hypnic headache oio:hasExactSynonym hypnic headache hypnic headache Hypnic headache Orphanet:276429 Hypnic headache hypnic headache Orphanet:276429 -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym familial hyperinsulinemic hypoglycemia familial hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia Orphanet:276525 Familial hyperinsulinism familial hyperinsulinemic hypoglycemia Orphanet:276525 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017183 hyperinsulinism due to UCP2 deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to UCP2 deficiency hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 Hyperinsulinism due to UCP2 deficiency hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 @@ -9749,8 +9670,8 @@ MONDO:0017227 autoimmune pancreatitis type 1 oio:hasExactSynonym lymphoplasmacy MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym AIP type 2 Orphanet:280315 Autoimmune pancreatitis type 2 AIP type 2 Orphanet:280315 MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym duct-centric pancreatitis duct-centric pancreatitis Duct-centric pancreatitis Orphanet:280315 Autoimmune pancreatitis type 2 duct-centric pancreatitis Orphanet:280315 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym 12p13.33 microdeletion syndrome Orphanet:280325 Distal deletion 12p 12p13.33 microdeletion syndrome Orphanet:280325 -MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 +MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym distal deletion 12p distal deletion 12p Distal deletion 12p Orphanet:280325 Distal deletion 12p distal deletion 12p Orphanet:280325 MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oio:hasExactSynonym IDMDC Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IDMDC Orphanet:280384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017238 hemoglobinopathy Toms River oio:hasExactSynonym transient neonatal cyanosis and anemia due to Toms River Hemoglobin transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 Hemoglobinopathy Toms River transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 @@ -9802,14 +9723,13 @@ MONDO:0017277 partial deletion of chromosome 12 oio:hasExactSynonym partial mon MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Orphanet:282196 Autoimmune polyendocrinopathy autoimmune polyendocrinopathy Orphanet:282196 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome Orphanet:282196 Autoimmune polyendocrinopathy autoimmune polyglandular syndrome Orphanet:282196 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS Orphanet:282196 Autoimmune polyendocrinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APS Orphanet:282196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome Orphanet:80 Antiphospholipid syndrome Antiphospholipid Syndrome Orphanet:80 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease early-onset Parkinson disease Early-onset Parkinson disease Orphanet:2828 Young-onset Parkinson disease early-onset Parkinson disease Orphanet:2828 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym YOPD Orphanet:2828 Young-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION YOPD Orphanet:2828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis Orphanet:283 Demodicidosis Demodicosis Orphanet:283 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis Echinococcus multilocularis infection Orphanet:284 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym 10p12p11 microdeletion syndrome Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 10p12p11 microdeletion syndrome Orphanet:284169 -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Del(10)(p11.21p12.31) del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 +MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym deletion 10p11.21p12.31 deletion 10p11.21p12.31 Deletion 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion deletion 10p11.21p12.31 Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym monosomy 10p11.21p12.31 monosomy 10p11.21p12.31 Monosomy 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion monosomy 10p11.21p12.31 Orphanet:284169 @@ -9843,7 +9763,6 @@ MONDO:0017315 short stature-webbed neck-heart disease syndrome oio:hasExactSynon MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oio:hasExactSynonym thong-Douglas-Ferrante syndrome thong-Douglas-Ferrante syndrome Thong-Douglas-Ferrante syndrome Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome thong-Douglas-Ferrante syndrome Orphanet:2866 MONDO:0017318 phakomatosis pigmentovascularis oio:hasExactSynonym phakomatosis pigmentovascularis phakomatosis pigmentovascularis Phakomatosis pigmentovascularis Orphanet:2875 Phakomatosis pigmentovascularis phakomatosis pigmentovascularis Orphanet:2875 MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym HE Orphanet:288 Hereditary elliptocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION HE Orphanet:288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis hereditary ovalocytosis Orphanet:98868 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency oio:hasExactSynonym PEPCK deficiency Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency PEPCK deficiency Orphanet:2880 MONDO:0017324 autosomal recessive hypophosphatemic rickets oio:hasExactSynonym ARHR Orphanet:289176 Autosomal recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARHR Orphanet:289176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oio:hasExactSynonym early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 @@ -9943,8 +9862,8 @@ MONDO:0017393 blepharophimosis - intellectual disability syndrome oio:hasExactSy MONDO:0017395 fixed pigmented erythema oio:hasExactSynonym fixed drug eruption fixed drug eruption Fixed drug eruption Orphanet:293812 Fixed drug eruption fixed drug eruption Orphanet:293812 MONDO:0017398 3MC syndrome oio:hasExactSynonym Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 3MC syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 MONDO:0017398 3MC syndrome oio:hasExactSynonym craniofacial-ulnar-renal syndrome craniofacial-ulnar-renal syndrome Craniofacial-ulnar-renal syndrome Orphanet:293843 3MC syndrome craniofacial-ulnar-renal syndrome Orphanet:293843 -MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) distal dup(x)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 +MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal trisomy Xq28 distal trisomy Xq28 Distal trisomy Xq28 Orphanet:293939 Distal Xq28 microduplication syndrome distal trisomy Xq28 Orphanet:293939 MONDO:0017405 1p21.3 microdeletion syndrome oio:hasExactSynonym monosomy 1p21.3 monosomy 1p21.3 Monosomy 1p21.3 Orphanet:293948 1p21.3 microdeletion syndrome monosomy 1p21.3 Orphanet:293948 MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oio:hasExactSynonym hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 @@ -9963,7 +9882,6 @@ MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym postpoliomyelitis MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Ivemark II syndrome Orphanet:294415 Renal-hepatic-pancreatic dysplasia Ivemark II syndrome Orphanet:294415 MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Renohepaticopancreatic dysplasia Orphanet:294415 Renal-hepatic-pancreatic dysplasia Renohepaticopancreatic dysplasia Orphanet:294415 MONDO:0017418 chronic intestinal failure oio:hasExactSynonym CIF Orphanet:294422 Chronic intestinal failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIF Orphanet:294422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017435 popliteal pterygium syndrome oio:hasExactSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome facio-genito-popliteal syndrome Orphanet:1300 MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym Parvovirus antenatal infection Orphanet:295 Fetal parvovirus syndrome Parvovirus antenatal infection Orphanet:295 MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym mother-to-child transmission of parvovirus syndrome mother-to-child transmission of parvovirus syndrome Mother-to-child transmission of parvovirus syndrome Orphanet:295 Fetal parvovirus syndrome mother-to-child transmission of parvovirus syndrome Orphanet:295 @@ -10210,8 +10128,8 @@ MONDO:0017783 congenital pancreatic cyst oio:hasExactSynonym true congenital pa MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBV-associated gastric carcinoma Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma EBV-associated gastric carcinoma Orphanet:313920 MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBVaGC Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma EBVaGC Orphanet:313920 MONDO:0017785 PENS syndrome oio:hasExactSynonym papular epidermal nevi with skyline basal cell layers syndrome papular epidermal nevi with skyline basal cell layers syndrome Papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 PENS syndrome papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 -MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) dup(2)(q23.1) Dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 +MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym trisomy 2q23.1 trisomy 2q23.1 Trisomy 2q23.1 Orphanet:313947 2q23.1 microduplication syndrome trisomy 2q23.1 Orphanet:313947 MONDO:0017787 erythroderma desquamativum oio:hasExactSynonym Leiner disease Orphanet:314 Erythroderma desquamativum Leiner disease Orphanet:314 MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome oio:hasExactSynonym Dinno syndrome Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Dinno syndrome Orphanet:314002 @@ -10235,8 +10153,8 @@ MONDO:0017808 duplication of the pituitary gland oio:hasExactSynonym hypophysea MONDO:0017809 parkinsonism due to ATP13A2 deficiency oio:hasExactSynonym CLN12 disease Orphanet:314632 CLN12 disease CLN12 disease Orphanet:314632 MONDO:0017810 variant ABeta2M amyloidosis oio:hasExactSynonym autosomal dominant beta2-microglobulinic amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Variant ABeta2M amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym 5q31.3 microdeletion syndrome Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 5q31.3 microdeletion syndrome Orphanet:314655 -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym monosomy 5q31.3 monosomy 5q31.3 Monosomy 5q31.3 Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion monosomy 5q31.3 Orphanet:314655 MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome Orphanet:314679 Cerebrofacioarticular syndrome Van Maldergem syndrome Orphanet:314679 MONDO:0017815 acquired porencephaly oio:hasExactSynonym acquired porencephaly acquired porencephaly Acquired porencephaly Orphanet:314697 Acquired porencephaly acquired porencephaly Orphanet:314697 @@ -10279,7 +10197,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN Orphanet:3156 Se MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital bronchopulmonary sequestration congenital bronchopulmonary sequestration Congenital bronchopulmonary sequestration Orphanet:3161 Congenital pulmonary sequestration congenital bronchopulmonary sequestration Orphanet:3161 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary lymphoma Orphanet:3162 Sézary syndrome Sézary lymphoma Orphanet:3162 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Orphanet:3162 Sézary syndrome Sézary syndrome Orphanet:3162 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome Orphanet:91355 Sheehan syndrome Sheehan Syndrome Orphanet:91355 MONDO:0017845 spastic ataxia oio:hasExactSynonym SPAX Orphanet:316226 Spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPAX Orphanet:316226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017846 autosomal dominant spastic ataxia oio:hasExactSynonym AD-SPAX Orphanet:316235 Autosomal dominant spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD-SPAX Orphanet:316235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017847 autosomal recessive spastic ataxia oio:hasExactSynonym AR-SPAX Orphanet:316240 Autosomal recessive spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-SPAX Orphanet:316240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10350,7 +10267,6 @@ MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym MT-AT MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym maternally-inherited SPG maternally-inherited SPG Maternally-inherited SPG Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia maternally-inherited SPG Orphanet:320360 MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oio:hasExactSynonym Curatolo-Cilio-Pessagno syndrome Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Curatolo-Cilio-Pessagno syndrome Orphanet:3207 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC Orphanet:322 Exstrophy-epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC Orphanet:322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex Orphanet:93929 Cloacal exstrophy OEIS complex Orphanet:93929 MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oio:hasExactSynonym Pfeiffer-Kapferer syndrome Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Pfeiffer-Kapferer syndrome Orphanet:3224 MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome oio:hasExactSynonym Tungland-Bellman syndrome Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome Tungland-Bellman syndrome Orphanet:3225 MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome Orphanet:3237 Multiple synostoses syndrome WL syndrome Orphanet:3237 @@ -10360,8 +10276,8 @@ MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-br MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis oio:hasExactSynonym T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym multiple paragangliomas associated with erythrocytosis multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with erythrocytosis Orphanet:324299 Multiple paragangliomas associated with polycythemia multiple paragangliomas associated with erythrocytosis Orphanet:324299 MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym paraganglioma-somatostatinoma-polycythemia syndrome paraganglioma-somatostatinoma-polycythemia syndrome Paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Multiple paragangliomas associated with polycythemia paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 -MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 +MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym monosomy 9p13 monosomy 9p13 Monosomy 9p13 Orphanet:324313 9p13 microdeletion syndrome monosomy 9p13 Orphanet:324313 MONDO:0017931 hereditary inclusion body myopathy type 4 oio:hasExactSynonym HIBM4 Orphanet:324381 Hereditary inclusion body myopathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIBM4 Orphanet:324381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oio:hasExactSynonym aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 @@ -10414,7 +10330,6 @@ MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Orpha MONDO:0017991 Takayasu arteritis oio:hasExactSynonym cervical aortic arch cervical aortic arch Cervical aortic arch Orphanet:99079 Cervical aortic arch cervical aortic arch Orphanet:99079 MONDO:0017993 cerebral sinovenous thrombosis oio:hasExactSynonym CSVT Orphanet:329217 Cerebral sinovenous thrombosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSVT Orphanet:329217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration oio:hasExactSynonym FAHN Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAHN Orphanet:329308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018000 hereditary thrombocytosis with transverse limb defect oio:hasExactSynonym familial thrombocytosis with transverse limb defect familial thrombocytosis with transverse limb defect Familial thrombocytosis with transverse limb defect Orphanet:329319 Thrombocythemia with distal limb defects familial thrombocytosis with transverse limb defect Orphanet:329319 MONDO:0018001 inverse Klippel-Trenaunay syndrome oio:hasExactSynonym cutaneous hemangioma with muscle or bone atrophy cutaneous hemangioma with muscle or bone atrophy Cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 Inverse Klippel-Trénaunay syndrome cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 @@ -10543,7 +10458,6 @@ MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria cl MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym hereditary xanthinuria hereditary xanthinuria Hereditary xanthinuria Orphanet:3467 Hereditary xanthinuria hereditary xanthinuria Orphanet:3467 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthic urolithiasis xanthic urolithiasis Xanthic urolithiasis Orphanet:3467 Hereditary xanthinuria xanthic urolithiasis Orphanet:3467 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine stone disease xanthine stone disease Xanthine stone disease Orphanet:3467 Hereditary xanthinuria xanthine stone disease Orphanet:3467 -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency xanthine dehydrogenase deficiency Xanthine dehydrogenase deficiency Orphanet:93601 Xanthinuria type I xanthine dehydrogenase deficiency Orphanet:93601 MONDO:0018115 epidermal nevus syndrome oio:hasExactSynonym Epidermal hamartoma syndrome Orphanet:35125 Epidermal nevus syndrome Epidermal hamartoma syndrome Orphanet:35125 MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia galactosemia Orphanet:352 MONDO:0018121 mitochondrial DNA maintenance syndrome oio:hasExactSynonym mtDNA maintenance syndrome Orphanet:352456 Mitochondrial DNA maintenance syndrome mtDNA maintenance syndrome Orphanet:352456 @@ -10555,8 +10469,8 @@ MONDO:0018124 Oncogenic osteomalacia oio:hasExactSynonym TIO Orphanet:352540 MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation oio:hasExactSynonym focal epilepsy-intellectual disability-dysarthria-ataxia syndrome focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym progressive myoclonus epilepsy with dystonia progressive myoclonus epilepsy with dystonia Progressive myoclonus epilepsy with dystonia Orphanet:352596 Progressive myoclonic epilepsy with dystonia progressive myoclonus epilepsy with dystonia Orphanet:352596 MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym PMED Orphanet:352596 Progressive myoclonic epilepsy with dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMED Orphanet:352596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Del(16)(q24.1) del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 +MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.1 monosomy 16q24.1 Monosomy 16q24.1 Orphanet:352629 16q24.1 microdeletion syndrome monosomy 16q24.1 Orphanet:352629 MONDO:0018128 phalangeal microgeodic syndrome oio:hasExactSynonym phalangeal osteolysis phalangeal osteolysis Phalangeal osteolysis Orphanet:352636 Phalangeal microgeodic syndrome phalangeal osteolysis Orphanet:352636 MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity oio:hasExactSynonym autosomal recessive cerebellar ataxia due to GBA2 deficiency autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 @@ -10592,8 +10506,6 @@ MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset PLS adult-onset MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset primary lateral sclerosis adult-onset primary lateral sclerosis Adult-onset primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis adult-onset primary lateral sclerosis Orphanet:35689 MONDO:0018155 lateral sclerosis oio:hasExactSynonym primary lateral sclerosis primary lateral sclerosis Primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis primary lateral sclerosis Orphanet:35689 MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome Del(3)(q26q27) Orphanet:356947 MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Del(3)(q26q27) del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome Del(3)(q26q27) Orphanet:356947 MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym monosomy 3q26q27 monosomy 3q26q27 Monosomy 3q26q27 Orphanet:356947 3q26q27 microdeletion syndrome monosomy 3q26q27 Orphanet:356947 @@ -10651,13 +10563,13 @@ MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffu MONDO:0018199 new-onset refractory status epilepticus oio:hasExactSynonym NORSE Norse NORSE Orphanet:363558 New-onset refractory status epilepticus http://purl.obolibrary.org/obo/mondo#ABBREVIATION NORSE Orphanet:363558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018201 extragonadal germ cell tumor oio:hasExactSynonym extragonadal germ cell tumor extragonadal germ cell tumor Extragonadal germ cell tumor Orphanet:363579 Extragonadal germ cell tumor extragonadal germ cell tumor Orphanet:363579 MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome oio:hasExactSynonym LCPS Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCPS Orphanet:363618 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) dup(20)(q11.2) Dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 +MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym distal deletion 1q distal deletion 1q Distal deletion 1q Orphanet:36367 Distal deletion 1q distal deletion 1q Orphanet:36367 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym monosomy 1qter monosomy 1qter Monosomy 1qter Orphanet:36367 Distal deletion 1q monosomy 1qter Orphanet:36367 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym telomeric deletion 1q telomeric deletion 1q Telomeric deletion 1q Orphanet:36367 Distal deletion 1q telomeric deletion 1q Orphanet:36367 -MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 +MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oio:hasExactSynonym Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 MONDO:0018209 Alexander disease type I oio:hasExactSynonym AxD type I Orphanet:363717 Alexander disease type I AxD type I Orphanet:363717 MONDO:0018210 Alexander disease type II oio:hasExactSynonym AxD type II Orphanet:363722 Alexander disease type II AxD type II Orphanet:363722 @@ -10670,9 +10582,7 @@ MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSyn MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSynonym HSAN1 Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN1 Orphanet:36386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym genetic epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures-plus Genetic epilepsy with febrile seizures-plus Orphanet:36387 Generalized epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures-plus Orphanet:36387 MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym GEFS+ Orphanet:36387 Generalized epilepsy with febrile seizures-plus http://purl.obolibrary.org/obo/mondo#ABBREVIATION GEFS+ Orphanet:36387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PNS Orphanet:36388 Paraneoplastic neurologic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PNS Orphanet:36388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Del(17)(q21.31) del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome Del(17)(q21.31) Orphanet:363958 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome Del(17)(q21.31) Orphanet:363958 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym monosomy 17q21.31 monosomy 17q21.31 Monosomy 17q21.31 Orphanet:363958 17q21.31 microdeletion syndrome monosomy 17q21.31 Orphanet:363958 @@ -10706,8 +10616,8 @@ MONDO:0018245 2p21 microdeletion syndrome without cystinuria oio:hasExactSynonym MONDO:0018247 CADDS oio:hasExactSynonym Zellweger-like contiguous gene deletion syndrome Orphanet:369942 CADDS Zellweger-like contiguous gene deletion syndrome Orphanet:369942 MONDO:0018247 CADDS oio:hasExactSynonym contiguous ABCD1 DXS1357E deletion syndrome contiguous ABCD1 DXS1357E deletion syndrome Contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 CADDS contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 MONDO:0018247 CADDS oio:hasExactSynonym CADDS Orphanet:369942 CADDS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL CADDS Orphanet:369942 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation oio:hasExactSynonym AML with t(8;16)(p11;p13) translocation Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation AML with t(8;16)(p11;p13) translocation Orphanet:370026 MONDO:0018258 Angora hair nevus oio:hasExactSynonym Schauder syndrome Orphanet:370039 Angora hair nevus Schauder syndrome Orphanet:370039 MONDO:0018259 didymosis aplasticosebacea oio:hasExactSynonym aplasia cutis congenita-nevus sebaceus syndrome aplasia cutis congenita-nevus sebaceus syndrome Aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 Didymosis aplasticosebacea aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 @@ -10764,7 +10674,6 @@ MONDO:0018309 Hirschsprung disease oio:hasExactSynonym HSCR Orphanet:388 Hirs MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Orphanet:389 Langerhans cell histiocytosis Langerhans cell granulomatosis Orphanet:389 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Orphanet:389 Langerhans cell histiocytosis Langerhans cell histiocytosis Orphanet:389 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym histiocytosis X histiocytosis X Histiocytosis X Orphanet:389 Langerhans cell histiocytosis histiocytosis X Orphanet:389 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018312 histoplasmosis oio:hasExactSynonym darling disease darling disease Darling disease Orphanet:390 Histoplasmosis darling disease Orphanet:390 MONDO:0018319 familial episodic pain syndrome oio:hasExactSynonym FEPS Orphanet:391384 Familial episodic pain syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FEPS Orphanet:391384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018322 HSD10 disease, infantile type oio:hasExactSynonym 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 HSD10 disease, infantile type 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 @@ -10803,8 +10712,8 @@ MONDO:0018338 activated PI3K-delta syndrome oio:hasExactSynonym APDS Orphanet MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with HSAN chronic diarrhea with HSAN Chronic diarrhea with HSAN Orphanet:397606 PrP systemic amyloidosis chronic diarrhea with HSAN Orphanet:397606 MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with hereditary sensory and autonomic neuropathy chronic diarrhea with hereditary sensory and autonomic neuropathy Chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 PrP systemic amyloidosis chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym prion protein systemic amyloidosis prion protein systemic amyloidosis Prion protein systemic amyloidosis Orphanet:397606 PrP systemic amyloidosis prion protein systemic amyloidosis Orphanet:397606 -MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 +MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym JBTS with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy JBTS with JATD Orphanet:397715 MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym Joubert syndrome with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with JATD Orphanet:397715 MONDO:0018346 ferro-cerebro-cutaneous syndrome oio:hasExactSynonym cerebro-cutaneous syndrome with iron overload cerebro-cutaneous syndrome with iron overload Cerebro-cutaneous syndrome with iron overload Orphanet:397922 Ferro-cerebro-cutaneous syndrome cerebro-cutaneous syndrome with iron overload Orphanet:397922 @@ -10922,8 +10831,8 @@ MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym generali MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym GEKA Orphanet:411777 Generalized eruptive keratoacanthoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GEKA Orphanet:411777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym HLP type 3 Orphanet:412 Dysbetalipoproteinemia HLP type 3 Orphanet:412 MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym hyperlipidemia type 3 hyperlipidemia type 3 Hyperlipidemia type 3 Orphanet:412 Dysbetalipoproteinemia hyperlipidemia type 3 Orphanet:412 -MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 +MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym monosomy 13q12.3 monosomy 13q12.3 Monosomy 13q12.3 Orphanet:412035 13q12.3 microdeletion syndrome monosomy 13q12.3 Orphanet:412035 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin encephalopathy Orphanet:415286 Bilirubin encephalopathy bilirubin encephalopathy Orphanet:415286 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym kernicterus kernicterus Kernicterus Orphanet:415286 Bilirubin encephalopathy kernicterus Orphanet:415286 @@ -10932,7 +10841,6 @@ MONDO:0018480 carcinoma of esophagus, salivary gland type oio:hasExactSynonym e MONDO:0018481 undifferentiated carcinoma of esophagus oio:hasExactSynonym undifferentiated esophageal carcinoma undifferentiated esophageal carcinoma Undifferentiated esophageal carcinoma Orphanet:418951 Undifferentiated carcinoma of esophagus undifferentiated esophageal carcinoma Orphanet:418951 MONDO:0018483 secondary pulmonary alveolar proteinosis oio:hasExactSynonym secondary PAP secondary PAP Secondary PAP Orphanet:420259 Secondary pulmonary alveolar proteinosis secondary PAP Orphanet:420259 MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym SCD syndrome Orphanet:420402 Semicircular canal dehiscence syndrome SCD syndrome Orphanet:420402 -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym LOPD Orphanet:411602 Hereditary late-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LOPD Orphanet:411602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD due to acid maltase deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset GSD due to acid maltase deficiency, late-onset Orphanet:420429 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD type 2, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset GSD type 2, late-onset Orphanet:420429 @@ -10989,13 +10897,12 @@ MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxicity seroton MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxidrome serotonin toxidrome Serotonin toxidrome Orphanet:43116 Serotonin syndrome serotonin toxidrome Orphanet:43116 MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus Patent urachus Orphanet:431341 Patent urachus patent urachus Orphanet:431341 MONDO:0018553 urachal diverticulum oio:hasExactSynonym Vesicourachal diverticulum Orphanet:431347 Urachal diverticulum Vesicourachal diverticulum Orphanet:431347 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym gonadotropic deficiency gonadotropic deficiency Gonadotropic deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism gonadotropic deficiency Orphanet:238666 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym nIHH Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism nIHH Orphanet:432 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym normosmic congenital hypogonadotropic hypogonadism normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism normosmic congenital hypogonadotropic hypogonadism Orphanet:432 MONDO:0018559 fetal lower urinary tract obstruction oio:hasExactSynonym LUTO Orphanet:435365 Fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LUTO Orphanet:435365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 +MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym intellectual disability-epilepsy-stereotypic hand movement syndrome intellectual disability-epilepsy-stereotypic hand movement syndrome Intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 3p25.3 microdeletion syndrome intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym monosomy 3p25.3 monosomy 3p25.3 Monosomy 3p25.3 Orphanet:435638 3p25.3 microdeletion syndrome monosomy 3p25.3 Orphanet:435638 MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oio:hasExactSynonym CMT2 due to TFG mutation Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation CMT2 due to TFG mutation Orphanet:435819 @@ -11083,7 +10990,6 @@ MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary im MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oio:hasExactSynonym triangle disease triangle disease TRIANGLE disease Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency triangle disease Orphanet:444463 MONDO:0018642 NIK deficiency oio:hasExactSynonym primary immunodeficiency with multifaceted aberrant lymphoid immunity primary immunodeficiency with multifaceted aberrant lymphoid immunity Primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 NIK deficiency primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B oio:hasExactSynonym AD-SPG9B Orphanet:447757 Autosomal dominant spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD-SPG9B Orphanet:447757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Orphanet:171 Primary sclerosing cholangitis Primary sclerosing cholangitis Orphanet:171 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis sclerosing cholangitis Sclerosing cholangitis Orphanet:447771 Sclerosing cholangitis sclerosing cholangitis Orphanet:447771 MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym odontogenic keratocystoma odontogenic keratocystoma Odontogenic keratocystoma Orphanet:447777 Keratocystic odontogenic tumor odontogenic keratocystoma Orphanet:447777 MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym KTOC Orphanet:447777 Keratocystic odontogenic tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KTOC Orphanet:447777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11127,8 +11033,8 @@ MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Holmes-Adie syndrome Orphanet:454718 Holmes-Adie syndrome Holmes-Adie syndrome Orphanet:454718 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym tonic pupil-tendon areflexia syndrome tonic pupil-tendon areflexia syndrome Tonic pupil-tendon areflexia syndrome Orphanet:454718 Holmes-Adie syndrome tonic pupil-tendon areflexia syndrome Orphanet:454718 MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym H-type tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula H-type tracheoesophageal fistula Orphanet:454750 -MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 +MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym deletion 1p35.2 deletion 1p35.2 Deletion 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome deletion 1p35.2 Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym monosomy 1p35.2 monosomy 1p35.2 Monosomy 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome monosomy 1p35.2 Orphanet:456298 MONDO:0018698 hereditary neuroendocrine tumor of small intestine oio:hasExactSynonym hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of small bowel Hereditary neuroendocrine tumor of small bowel Orphanet:456333 Hereditary neuroendocrine tumor of small intestine hereditary neuroendocrine tumor of small bowel Orphanet:456333 @@ -11145,13 +11051,12 @@ MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym PILA MONDO:0018715 congenital hemangioma oio:hasExactSynonym congenital hemangioma congenital hemangioma Congenital hemangioma Orphanet:458775 Congenital hemangioma congenital hemangioma Orphanet:458775 MONDO:0018717 mixed cystic lymphatic malformation oio:hasExactSynonym mixed cystic lymphangioma mixed cystic lymphangioma Mixed cystic lymphangioma Orphanet:458792 Mixed cystic lymphatic malformation mixed cystic lymphangioma Orphanet:458792 MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym 7q36.3 microduplication syndrome Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 7q36.3 microduplication syndrome Orphanet:459074 -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) dup(7)(q36.3) Dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation oio:hasExactSynonym DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym cutaneovisceral angiomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym MLT Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MLT Orphanet:464321 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym catastrophic APS catastrophic APS Catastrophic APS Orphanet:464343 Catastrophic antiphospholipid syndrome catastrophic APS Orphanet:464343 MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018741 paracetamol poisoning oio:hasExactSynonym acetaminophen poisoning acetaminophen poisoning Acetaminophen poisoning Orphanet:464458 Paracetamol poisoning acetaminophen poisoning Orphanet:464458 @@ -11309,7 +11214,6 @@ MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma man MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle zone lymphoma Orphanet:52416 Mantle cell lymphoma mantle zone lymphoma Orphanet:52416 MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCM Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym MCL Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCL Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018879 lichen planopilaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018879 lichen planopilaris oio:hasExactSynonym follicular lichen planus follicular lichen planus Follicular lichen planus Orphanet:525 Lichen planopilaris follicular lichen planus Orphanet:525 MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen follicularis lichen follicularis Lichen follicularis Orphanet:525 Lichen planopilaris lichen follicularis Orphanet:525 MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen planus follicularis lichen planus follicularis Lichen planus follicularis Orphanet:525 Lichen planopilaris lichen planus follicularis Orphanet:525 @@ -11491,7 +11395,6 @@ MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Orphanet:648 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome Orphanet:648 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym amaurosis congenita of Leber amaurosis congenita of Leber Amaurosis congenita of Leber Orphanet:65 Leber congenital amaurosis amaurosis congenita of Leber Orphanet:65 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis Orphanet:65 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis Orphanet:65 -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA Orphanet:673538 Littoral cell hemangioma of the spleen http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA Orphanet:673538 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018999 LCAT deficiency oio:hasExactSynonym lecithin-cholesterol acyltransferase deficiency lecithin-cholesterol acyltransferase deficiency Lecithin-cholesterol acyltransferase deficiency Orphanet:650 LCAT deficiency lecithin-cholesterol acyltransferase deficiency Orphanet:650 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic gangliocytoma of the cerebellum Orphanet:65285 Lhermitte-Duclos disease dysplastic gangliocytoma of the cerebellum Orphanet:65285 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym LDD Orphanet:65285 Lhermitte-Duclos disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LDD Orphanet:65285 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11539,12 +11442,10 @@ MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma Orphanet:66662 Extracutaneous mastocytoma extracutaneous mastocytoma Orphanet:66662 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive malignant osteopetrosis autosomal recessive malignant osteopetrosis Autosomal recessive malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis autosomal recessive malignant osteopetrosis Orphanet:667 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym infantile malignant osteopetrosis infantile malignant osteopetrosis Infantile malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis infantile malignant osteopetrosis Orphanet:667 -MONDO:0019029 segmental odontomaxillary dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym congenital dyserythropoietic anemia with thombocytopenia congenital dyserythropoietic anemia with thombocytopenia Congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym XDAT Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XDAT Orphanet:67044 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency oio:hasExactSynonym MRGH Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRGH Orphanet:67045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome Steele-Richardson-Olszewski disease Orphanet:240071 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym PSP syndrome Orphanet:683 Progressive supranuclear palsy PSP syndrome Orphanet:683 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disease peroxisomal disease Peroxisomal disease Orphanet:68373 Peroxisomal disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisomal disease Orphanet:68373 MONDO:0019054 congenital limb malformation oio:hasExactSynonym congenital limb malformation congenital limb malformation Congenital limb malformation Orphanet:68378 Congenital limb malformation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL congenital limb malformation Orphanet:68378 @@ -11608,12 +11509,10 @@ MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym continuous spikes and waves during slow-wave sleep continuous spikes and waves during slow-wave sleep Continuous spikes and waves during slow-wave sleep Orphanet:725 Continuous spikes and waves during sleep continuous spikes and waves during slow-wave sleep Orphanet:725 MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym epileptic encephalopathy with continuous spike-and-wave during slow sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 Continuous spikes and waves during sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS Orphanet:725 Continuous spikes and waves during sleep http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSWS Orphanet:725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym LKS Orphanet:98818 Landau-Kleffner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LKS Orphanet:98818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym Micropolyangiitis Orphanet:727 Microscopic polyangiitis Micropolyangiitis Orphanet:727 MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym microscopic polyarteritis microscopic polyarteritis Microscopic polyarteritis Orphanet:727 Microscopic polyangiitis microscopic polyarteritis Orphanet:727 MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym MPA Orphanet:727 Microscopic polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPA Orphanet:727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019127 polymyositis oio:hasExactSynonym polymyositis polymyositis Polymyositis Orphanet:732 Polymyositis polymyositis Orphanet:732 -MONDO:0019127 polymyositis oio:hasExactSynonym PM Orphanet:764 Pyomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PM Orphanet:764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019128 mullerian aplasia oio:hasExactSynonym Müllerian duct failure Orphanet:73217 Müllerian aplasia Müllerian duct failure Orphanet:73217 MONDO:0019128 mullerian aplasia oio:hasExactSynonym aplasia of the Müllerian ducts aplasia of the Müllerian ducts Aplasia of the Müllerian ducts Orphanet:73217 Müllerian aplasia aplasia of the Müllerian ducts Orphanet:73217 MONDO:0019136 Zygomycosis oio:hasExactSynonym Mucormycosis Orphanet:73263 Zygomycosis Mucormycosis Orphanet:73263 @@ -11666,9 +11565,7 @@ MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym hypertensive h MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym mineralocorticoid resistant hyperkalemia mineralocorticoid resistant hyperkalemia Mineralocorticoid resistant hyperkalemia Orphanet:757 Pseudohypoaldosteronism type 2 mineralocorticoid resistant hyperkalemia Orphanet:757 MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHA2 Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHA2 Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHAII Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHAII Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019165 central precocious puberty oio:hasExactSynonym gonadotropin-dependant precocious puberty gonadotropin-dependant precocious puberty Gonadotropin-dependant precocious puberty Orphanet:650063 Rare central precocious puberty gonadotropin-dependant precocious puberty Orphanet:650063 -MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym HSP Orphanet:685 Hereditary spastic paraplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSP Orphanet:685 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym IgA vasculitis Orphanet:761 Immunoglobulin A vasculitis IgA vasculitis Orphanet:761 MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym anaphylactoid purpura anaphylactoid purpura Anaphylactoid purpura Orphanet:761 Immunoglobulin A vasculitis anaphylactoid purpura Orphanet:761 MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym purpura rheumatica purpura rheumatica Purpura rheumatica Orphanet:761 Immunoglobulin A vasculitis purpura rheumatica Orphanet:761 @@ -11683,7 +11580,6 @@ MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate de MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Orphanet:765 Pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency Orphanet:765 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDH Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDH Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDHC Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDHC Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency pyruvate decarboxylase deficiency Orphanet:79243 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym Küssmaul-Maier disease Orphanet:767 Polyarteritis nodosa Küssmaul-Maier disease Orphanet:767 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym periarteritis nodosa periarteritis nodosa Periarteritis nodosa Orphanet:767 Polyarteritis nodosa periarteritis nodosa Orphanet:767 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym polyarteritis nodosa polyarteritis nodosa Polyarteritis nodosa Orphanet:767 Polyarteritis nodosa polyarteritis nodosa Orphanet:767 @@ -11739,8 +11635,6 @@ MONDO:0019201 thyrotoxic periodic paralysis oio:hasExactSynonym thyrotoxic hypo MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma Orphanet:79105 Myxofibrosarcoma fibromyxosarcoma Orphanet:79105 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma Orphanet:79105 Myxofibrosarcoma myxofibrosarcoma Orphanet:79105 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxoid malignant fibrous histiocytoma myxoid malignant fibrous histiocytoma Myxoid malignant fibrous histiocytoma Orphanet:79105 Myxofibrosarcoma myxoid malignant fibrous histiocytoma Orphanet:79105 -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym Hamman-rich syndrome Hamman-rich syndrome Hamman-Rich syndrome Orphanet:79126 Acute interstitial pneumonia Hamman-rich syndrome Orphanet:79126 MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym acute interstitial pneumonitis acute interstitial pneumonitis Acute interstitial pneumonitis Orphanet:79126 Acute interstitial pneumonia acute interstitial pneumonitis Orphanet:79126 MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome oio:hasExactSynonym RB-ILD Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION RB-ILD Orphanet:79127 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11766,7 +11660,6 @@ MONDO:0019258 mild phenylketonuria oio:hasExactSynonym mild PKU mild PKU Mild P MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant PKU variant PKU Variant PKU Orphanet:79253 Mild phenylketonuria variant PKU Orphanet:79253 MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant phenylketonuria variant phenylketonuria Variant phenylketonuria Orphanet:79253 Mild phenylketonuria variant phenylketonuria Orphanet:79253 MONDO:0019259 classic phenylketonuria oio:hasExactSynonym classic PKU classic PKU Classic PKU Orphanet:79254 Classic phenylketonuria classic PKU Orphanet:79254 -MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:659681 Erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPP Orphanet:659681 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:79278 Autosomal erythropoietic protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPP Orphanet:79278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym NAGA deficiency type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 NAGA deficiency type 3 Orphanet:79281 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Schindler disease type 3 Orphanet:79281 @@ -12022,7 +11915,6 @@ MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExact MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym HHE syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome HHE syndrome Orphanet:86908 MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym hemiconvulsion-hemiplegia-epilepsy syndrome hemiconvulsion-hemiplegia-epilepsy syndrome Hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym IHHS Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IHHS Orphanet:86908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019487 epilepsy with myoclonic absences oio:hasExactSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonic status in non-progressive encephalopathies myoclonic status in non-progressive encephalopathies Myoclonic status in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies myoclonic status in non-progressive encephalopathies Orphanet:86913 MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonus epilepsy in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome oio:hasExactSynonym diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 @@ -12075,7 +11967,6 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym warm A MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner hemolytic anemia Orphanet:90035 Paroxysmal cold hemoglobinuria Donath-Landsteiner hemolytic anemia Orphanet:90035 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome Orphanet:90035 Paroxysmal cold hemoglobinuria Donath-Landsteiner syndrome Orphanet:90035 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019534 mixed-type autoimmune hemolytic anemia oio:hasExactSynonym mixed AIHA mixed AIHA Mixed AIHA Orphanet:90036 Mixed-type autoimmune hemolytic anemia mixed AIHA Orphanet:90036 MONDO:0019535 drug-induced autoimmune hemolytic anemia oio:hasExactSynonym drug-induced AIHA drug-induced AIHA Drug-induced AIHA Orphanet:90037 Drug-induced autoimmune hemolytic anemia drug-induced AIHA Orphanet:90037 MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome oio:hasExactSynonym Shiga-like toxin-associated HUS Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome Shiga-like toxin-associated HUS Orphanet:90038 @@ -12165,7 +12056,6 @@ MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioneurotic ed MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired bradykinine-induced angioedema acquired bradykinine-induced angioedema Acquired bradykinine-induced angioedema Orphanet:91385 Acquired angioedema acquired bradykinine-induced angioedema Orphanet:91385 MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired non histamine-induced angioedema acquired non histamine-induced angioedema Acquired non histamine-induced angioedema Orphanet:91385 Acquired angioedema acquired non histamine-induced angioedema Orphanet:91385 MONDO:0019624 acquired angioedema oio:hasExactSynonym AAE Orphanet:91385 Acquired angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AAE Orphanet:91385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial aortic dissection familial aortic dissection Familial aortic dissection Orphanet:229 Familial aortic dissection familial aortic dissection Orphanet:229 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial TAAD familial TAAD Familial TAAD Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection familial TAAD Orphanet:91387 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial thoracic aortic aneurysm and aortic dissection familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 MONDO:0019629 sclerocornea oio:hasExactSynonym isolated congenital sclerocornea isolated congenital sclerocornea Isolated congenital sclerocornea Orphanet:91490 Isolated congenital sclerocornea isolated congenital sclerocornea Orphanet:91490 @@ -12235,10 +12125,8 @@ MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym autoimmune thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:0019753 localized Castleman disease oio:hasExactSynonym localized Castleman disease localized Castleman disease Localized Castleman disease Orphanet:93685 Unicentric Castleman disease localized Castleman disease Orphanet:93685 -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym HHV-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease HHV-8-associated multicentric Castleman disease Orphanet:570438 MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym malformation syndrome malformation syndrome Malformation syndrome Orphanet:93890 Rare developmental defect during embryogenesis malformation syndrome Orphanet:93890 MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym rare developmental defect during embryogenesis rare developmental defect during embryogenesis Rare developmental defect during embryogenesis Orphanet:93890 Rare developmental defect during embryogenesis rare developmental defect during embryogenesis Orphanet:93890 MONDO:0019761 laryngotracheoesophageal cleft type 1 oio:hasExactSynonym LTEC I Orphanet:93938 Laryngotracheoesophageal cleft type 1 LTEC I Orphanet:93938 @@ -12297,7 +12185,6 @@ MONDO:0019806 primary progressive aphasia oio:hasExactSynonym PPA Orphanet:95 MONDO:0019807 mesocardia oio:hasExactSynonym Midline heart Orphanet:95443 Mesocardia Midline heart Orphanet:95443 MONDO:0019807 mesocardia oio:hasExactSynonym mesocardia mesocardia Mesocardia Orphanet:95443 Mesocardia mesocardia Orphanet:95443 MONDO:0019808 aortic valve atresia oio:hasExactSynonym congenital aortic valve atresia congenital aortic valve atresia Congenital aortic valve atresia Orphanet:95448 Congenital aortic valve atresia congenital aortic valve atresia Orphanet:95448 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym TEN Orphanet:3398 Thymic epithelial neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TEN Orphanet:3398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym SJS-TEN Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION SJS-TEN Orphanet:95455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019811 tricuspid valve agenesis oio:hasExactSynonym congenital unguarded tricuspid orifice congenital unguarded tricuspid orifice Congenital unguarded tricuspid orifice Orphanet:95457 Tricuspid valve agenesis congenital unguarded tricuspid orifice Orphanet:95457 MONDO:0019823 premature closure of the arterial duct oio:hasExactSynonym premature closure of the patent ductus arteriosus premature closure of the patent ductus arteriosus Premature closure of the patent ductus arteriosus Orphanet:95486 Premature closure of the arterial duct premature closure of the patent ductus arteriosus Orphanet:95486 @@ -12339,8 +12226,8 @@ MONDO:0019873 4p16.3 microduplication syndrome oio:hasExactSynonym trisomy 4pte MONDO:0019874 distal trisomy 7p oio:hasExactSynonym distal duplication 7p distal duplication 7p Distal duplication 7p Orphanet:96074 Distal duplication 7p distal duplication 7p Orphanet:96074 MONDO:0019874 distal trisomy 7p oio:hasExactSynonym telomeric duplication 7p telomeric duplication 7p Telomeric duplication 7p Orphanet:96074 Distal duplication 7p telomeric duplication 7p Orphanet:96074 MONDO:0019874 distal trisomy 7p oio:hasExactSynonym trisomy 7pter trisomy 7pter Trisomy 7pter Orphanet:96074 Distal duplication 7p trisomy 7pter Orphanet:96074 -MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Invdupdel(8p) invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 +MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym inverted 8p duplication/deletion syndrome inverted 8p duplication/deletion syndrome Inverted 8p duplication/deletion syndrome Orphanet:96092 8p inverted duplication/deletion syndrome inverted 8p duplication/deletion syndrome Orphanet:96092 MONDO:0019877 distal trisomy 2q oio:hasExactSynonym distal duplication 2q distal duplication 2q Distal duplication 2q Orphanet:96094 Distal duplication 2q distal duplication 2q Orphanet:96094 MONDO:0019877 distal trisomy 2q oio:hasExactSynonym telomeric duplication 2q telomeric duplication 2q Telomeric duplication 2q Orphanet:96094 Distal duplication 2q telomeric duplication 2q Orphanet:96094 @@ -12384,8 +12271,8 @@ MONDO:0019889 distal trisomy 22q oio:hasExactSynonym telomeric duplication 22q MONDO:0019889 distal trisomy 22q oio:hasExactSynonym trisomy 22qter trisomy 22qter Trisomy 22qter Orphanet:96109 Distal duplication 22q trisomy 22qter Orphanet:96109 MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-distal duplication 9q non-distal duplication 9q Non-distal duplication 9q Orphanet:96112 Non-distal duplication 9q non-distal duplication 9q Orphanet:96112 MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-telomeric trisomy 9q non-telomeric trisomy 9q Non-telomeric trisomy 9q Orphanet:96112 Non-distal duplication 9q non-telomeric trisomy 9q Orphanet:96112 -MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Del(22) del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 +MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 MONDO:0019891 monosomy 22 oio:hasExactSynonym deletion 22 deletion 22 Deletion 22 Orphanet:96123 Monosomy 22 deletion 22 Orphanet:96123 MONDO:0019892 distal monosomy 7p oio:hasExactSynonym distal deletion 7p distal deletion 7p Distal deletion 7p Orphanet:96126 Distal deletion 7p distal deletion 7p Orphanet:96126 MONDO:0019892 distal monosomy 7p oio:hasExactSynonym monosomy 7pter monosomy 7pter Monosomy 7pter Orphanet:96126 Distal deletion 7p monosomy 7pter Orphanet:96126 @@ -12398,8 +12285,8 @@ MONDO:0019895 distal monosomy 4q oio:hasExactSynonym telomeric deletion 4q telo MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9q subtelomeric deletion syndrome Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9qSTDS Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9qSTDS Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to del(9)(q34) kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 MONDO:0019897 distal monosomy 12q oio:hasExactSynonym distal deletion 12q distal deletion 12q Distal deletion 12q Orphanet:96149 Distal deletion 12q distal deletion 12q Orphanet:96149 MONDO:0019897 distal monosomy 12q oio:hasExactSynonym monosomy 12qter monosomy 12qter Monosomy 12qter Orphanet:96149 Distal deletion 12q monosomy 12qter Orphanet:96149 @@ -12423,8 +12310,8 @@ MONDO:0019914 maternal uniparental disomy of chromosome 9 oio:hasExactSynonym U MONDO:0019915 maternal uniparental disomy of chromosome 14 oio:hasExactSynonym UPD(14)mat Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 UPD(14)mat Orphanet:96184 MONDO:0019916 maternal uniparental disomy of chromosome 16 oio:hasExactSynonym UPD(16)mat Orphanet:96185 Maternal uniparental disomy of chromosome 16 UPD(16)mat Orphanet:96185 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)mat Orphanet:96186 Maternal uniparental disomy of chromosome 20 UPD(20)mat Orphanet:96186 -MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) Maternal UPD(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 +MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 MONDO:0019918 maternal uniparental disomy of chromosome 21 oio:hasExactSynonym UPD(21)mat Orphanet:96187 Maternal uniparental disomy of chromosome 21 UPD(21)mat Orphanet:96187 MONDO:0019919 maternal uniparental disomy of chromosome 22 oio:hasExactSynonym UPD(22)mat Orphanet:96188 Maternal uniparental disomy of chromosome 22 UPD(22)mat Orphanet:96188 MONDO:0019920 paternal uniparental disomy of chromosome 5 oio:hasExactSynonym UPD(5)pat Orphanet:96190 Paternal uniparental disomy of chromosome 5 UPD(5)pat Orphanet:96190 @@ -12537,7 +12424,6 @@ MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystroph MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym FPLD Orphanet:98306 Familial partial lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FPLD Orphanet:98306 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020099 inherited sideroblastic anemia oio:hasExactSynonym constitutional sideroblastic anemia constitutional sideroblastic anemia Constitutional sideroblastic anemia Orphanet:98362 Constitutional sideroblastic anemia constitutional sideroblastic anemia Orphanet:98362 MONDO:0020102 hereditary stomatocytosis oio:hasExactSynonym hereditary stomatocytic disease hereditary stomatocytic disease Hereditary stomatocytic disease Orphanet:98365 Hereditary stomatocytosis hereditary stomatocytic disease Orphanet:98365 -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune hemolytic anemia autoimmune hemolytic anemia Autoimmune hemolytic anemia Orphanet:98375 Autoimmune hemolytic anemia autoimmune hemolytic anemia Orphanet:98375 MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AIHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12551,7 +12437,6 @@ MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell dise MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease Orphanet:98503 Motor neuron disease motor neuron disease Orphanet:98503 MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired anterior horn cell disease acquired anterior horn cell disease Acquired anterior horn cell disease Orphanet:98506 Acquired motor neuron disease acquired anterior horn cell disease Orphanet:98506 MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired motor neuron disease acquired motor neuron disease Acquired motor neuron disease Orphanet:98506 Acquired motor neuron disease acquired motor neuron disease Orphanet:98506 -MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontoneocerebellar atrophy pontoneocerebellar atrophy Pontoneocerebellar atrophy Orphanet:98523 Non-syndromic pontocerebellar hypoplasia pontoneocerebellar atrophy Orphanet:98523 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020212 superficial corneal dystrophy oio:hasExactSynonym anterior corneal dystrophy anterior corneal dystrophy Anterior corneal dystrophy Orphanet:98625 Superficial corneal dystrophy anterior corneal dystrophy Orphanet:98625 @@ -12573,8 +12458,8 @@ MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym fa MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym familial focal epilepsy with variable foci familial focal epilepsy with variable foci Familial focal epilepsy with variable foci Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial focal epilepsy with variable foci Orphanet:98820 MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia chronic myelomonocytic leukemia Orphanet:98823 MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym CMML Orphanet:98823 Chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMML Orphanet:98823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities oio:hasExactSynonym AML with 11q23 abnormalities Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities AML with 11q23 abnormalities Orphanet:98831 MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym AML M2 Orphanet:98834 Acute myeloblastic leukemia with maturation AML M2 Orphanet:98834 MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloblastic leukemia M2 acute myeloblastic leukemia M2 Acute myeloblastic leukemia M2 Orphanet:98834 Acute myeloblastic leukemia with maturation acute myeloblastic leukemia M2 Orphanet:98834 @@ -12670,8 +12555,6 @@ MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym AS MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym ASD, coronary sinus type Orphanet:99104 Atrial septal defect, coronary sinus type ASD, coronary sinus type Orphanet:99104 MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym unroofed coronary sinus unroofed coronary sinus Unroofed coronary sinus Orphanet:99104 Atrial septal defect, coronary sinus type unroofed coronary sinus Orphanet:99104 MONDO:0020436 atrial septal defect, sinus venosus type oio:hasExactSynonym ASD, sinus venosus type Orphanet:99105 Atrial septal defect, sinus venosus type ASD, sinus venosus type Orphanet:99105 -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym partial atrioventricular septal defect partial atrioventricular septal defect Partial atrioventricular septal defect Orphanet:1330 Partial atrioventricular septal defect partial atrioventricular septal defect Orphanet:1330 -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym PAVC Orphanet:1330 Partial atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAVC Orphanet:1330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym ASD, ostium primum type Orphanet:99106 Atrial septal defect, ostium primum type ASD, ostium primum type Orphanet:99106 MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right SVC connecting to left-sided atrium right SVC connecting to left-sided atrium Right SVC connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium right SVC connecting to left-sided atrium Orphanet:99110 MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right superior caval vein connecting to left-sided atrium right superior caval vein connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium right superior caval vein connecting to left-sided atrium Orphanet:99110 @@ -12776,8 +12659,6 @@ MONDO:0020554 Heiner syndrome oio:hasExactSynonym cow's milk hypersensitivity c MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K oio:hasExactSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT Orphanet:99966 Atypical teratoid rhabdoid tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATRT Orphanet:99966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020561 myxoid/round cell liposarcoma oio:hasExactSynonym MRCLS Orphanet:99967 Myxoid/round cell liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRCLS Orphanet:99967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma Orphanet:99969 Pleomorphic liposarcoma pleomorphic liposarcoma Orphanet:99969 MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma Orphanet:99970 Dedifferentiated liposarcoma dedifferentiated liposarcoma Orphanet:99970 @@ -12842,7 +12723,6 @@ MONDO:0021134 acquired factor X deficiency oio:hasExactSynonym aFX Orphanet:5 MONDO:0021141 acquired oio:hasExactSynonym not genetically inherited Orphanet:409941 not genetically inherited not genetically inherited Orphanet:409941 MONDO:0021154 dermis disorder oio:hasExactSynonym other dermis disorder other dermis disorder Other dermis disorder Orphanet:79381 Other dermis disorder other dermis disorder Orphanet:79381 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid hemangioma Orphanet:675396 Epithelioid hemangioma epithelioid hemangioma Orphanet:675396 -MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym Atypical LQT8 Orphanet:595109 Atypical Timothy syndrome Atypical LQT8 Orphanet:595109 MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym atypical Timothy syndrome atypical Timothy syndrome Atypical Timothy syndrome Orphanet:595109 Atypical Timothy syndrome atypical Timothy syndrome Orphanet:595109 MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12850,7 +12730,6 @@ MONDO:0021176 autoimmune hepatitis type 2 oio:hasExactSynonym autoimmune hepati MONDO:0021181 inherited blood coagulation disorder oio:hasExactSynonym rare genetic coagulation disorder rare genetic coagulation disorder Rare genetic coagulation disorder Orphanet:183654 Rare genetic coagulation disorder rare genetic coagulation disorder Orphanet:183654 MONDO:0021427 squamous cell carcinoma of lip oio:hasExactSynonym squamous cell carcinoma of the Lip squamous cell carcinoma of the Lip Squamous cell carcinoma of the lip Orphanet:502366 Squamous cell carcinoma of the lip squamous cell carcinoma of the Lip Orphanet:502366 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic tumor Orphanet:94 Astrocytoma astrocytic tumor Orphanet:94 -MONDO:0021651 synpolydactyly oio:hasExactSynonym polysyndactyly polysyndactyly Polysyndactyly Orphanet:93338 Polysyndactyly polysyndactyly Orphanet:93338 MONDO:0021651 synpolydactyly oio:hasExactSynonym syndactyly type 2 syndactyly type 2 Syndactyly type 2 Orphanet:93403 Syndactyly type 2 syndactyly type 2 Orphanet:93403 MONDO:0021651 synpolydactyly oio:hasExactSynonym synpolydactyly synpolydactyly Synpolydactyly Orphanet:93403 Syndactyly type 2 synpolydactyly Orphanet:93403 MONDO:0021660 deep seated dermatophytosis oio:hasExactSynonym deep dermatophytosis deep dermatophytosis Deep dermatophytosis Orphanet:397587 Deep dermatophytosis deep dermatophytosis Orphanet:397587 @@ -12899,7 +12778,6 @@ MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic anter MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic motor neuron disease genetic motor neuron disease Genetic motor neuron disease Orphanet:98505 Genetic motor neuron disease genetic motor neuron disease Orphanet:98505 MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym adenocarcinoma of the vulva adenocarcinoma of the vulva Adenocarcinoma of the vulva Orphanet:494454 Vulvar adenocarcinoma adenocarcinoma of the vulva Orphanet:494454 MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym vulvar adenocarcinoma vulvar adenocarcinoma Vulvar adenocarcinoma Orphanet:494454 Vulvar adenocarcinoma vulvar adenocarcinoma Orphanet:494454 -MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Orphanet:35069 Infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy Orphanet:35069 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym phospholipase A2-associated neurodegeneration phospholipase A2-associated neurodegeneration Phospholipase A2-associated neurodegeneration Orphanet:35069 Infantile neuroaxonal dystrophy phospholipase A2-associated neurodegeneration Orphanet:35069 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym INAD inaD INAD Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION INAD Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13015,10 +12893,10 @@ MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart def MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oio:hasExactSynonym hyaluronidase 2 deficiency hyaluronidase 2 deficiency Hyaluronidase 2 deficiency Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome hyaluronidase 2 deficiency Orphanet:508476 MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oio:hasExactSynonym serpentine-like syndrome serpentine-like syndrome Serpentine-like syndrome Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome serpentine-like syndrome Orphanet:514352 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with BCR-ABL1 Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with BCR-ABL1 Orphanet:585867 -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PCM1-JAK2 myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym Chung-Jansen syndrome Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Chung-Jansen syndrome Orphanet:589905 MONDO:0035149 secondary erythromelalgia oio:hasExactSynonym Secondary erythermalgia Orphanet:529864 Secondary erythromelalgia Secondary erythermalgia Orphanet:529864 @@ -13139,7 +13017,6 @@ MONDO:0035679 Timothy syndrome type 2 oio:hasExactSynonym TS2 Orphanet:595105 MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency oio:hasExactSynonym CID due to RELA haploinsufficiency Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency CID due to RELA haploinsufficiency Orphanet:596759 MONDO:0035696 incomplete septal cirrhosis oio:hasExactSynonym Incomplete septal fibrosis Orphanet:596941 Incomplete septal cirrhosis Incomplete septal fibrosis Orphanet:596941 MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035736 acquired hemophilia B oio:hasExactSynonym AHB Orphanet:599485 Acquired hemophilia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHB Orphanet:599485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035740 acquired factor XI deficiency oio:hasExactSynonym aFXI Orphanet:599507 Acquired factor XI deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION aFXI Orphanet:599507 MONDO:0035742 factor V short isoforms-related bleeding disorder oio:hasExactSynonym FV short isoforms-related bleeding disorder Orphanet:599519 Factor V short isoforms-related bleeding disorder FV short isoforms-related bleeding disorder Orphanet:599519 @@ -13166,8 +13043,8 @@ MONDO:0035879 granuloma faciale oio:hasExactSynonym Facial granuloma of Lever MONDO:0035879 granuloma faciale oio:hasExactSynonym Granuloma of Lever Orphanet:615943 Granuloma faciale Granuloma of Lever Orphanet:615943 MONDO:0035882 chronic intervillositis of unknown etiology oio:hasExactSynonym CIUE Orphanet:615970 Chronic intervillositis of unknown etiology http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIUE Orphanet:615970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency oio:hasExactSynonym 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym BCR-ABL1-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) BCR-ABL1-like B-ALL Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym Philadelphia chromosome-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Philadelphia chromosome-like B-ALL Orphanet:585909 MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oio:hasExactSynonym B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 @@ -13211,8 +13088,8 @@ MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryofe MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryopathy Orphanet:485358 Propylthiouracil embryofetopathy PTU embryopathy Orphanet:485358 MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym propylthiouracil embryopathy propylthiouracil embryopathy Propylthiouracil embryopathy Orphanet:485358 Propylthiouracil embryofetopathy propylthiouracil embryopathy Orphanet:485358 MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym tetrasomy 16p12.1p12.3 tetrasomy 16p12.1p12.3 Tetrasomy 16p12.1p12.3 Orphanet:485405 16p12.1p12.3 triplication syndrome tetrasomy 16p12.1p12.3 Orphanet:485405 -MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 +MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 MONDO:0044624 pediatric collagenous gastritis oio:hasExactSynonym childhood-onset collagenous gastritis childhood-onset collagenous gastritis Childhood-onset collagenous gastritis Orphanet:487809 Pediatric collagenous gastritis childhood-onset collagenous gastritis Orphanet:487809 MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation oio:hasExactSynonym CMT2 due to DGAT2 mutation Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation CMT2 due to DGAT2 mutation Orphanet:487814 MONDO:0044627 acute macular neuroretinopathy oio:hasExactSynonym AMNR Orphanet:488239 Acute macular neuroretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMNR Orphanet:488239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13259,8 +13136,8 @@ MONDO:0044688 isolated optic neuritis oio:hasExactSynonym ION ion ION Orphanet: MONDO:0044689 recurrent idiopathic neuroretinitis oio:hasExactSynonym RINR Orphanet:499103 Recurrent idiopathic neuroretinitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RINR Orphanet:499103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044705 paranasal sinus squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasal cavity and sinuses squamous cell carcinoma of the nasal cavity and sinuses Squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oio:hasExactSynonym mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 -MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) proximal del(4)(q25) Proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 +MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal monosomy 4q25 proximal monosomy 4q25 Proximal monosomy 4q25 Orphanet:502437 4q25 proximal deletion syndrome proximal monosomy 4q25 Orphanet:502437 MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 Alkaline ceramidase 3 deficiency ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym leukodystrophy due to alkaline ceramidase 3 deficiency leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 Alkaline ceramidase 3 deficiency leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 @@ -13340,7 +13217,6 @@ MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated c MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated mitochondrial respiratory chain complex I deficiency isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 Isolated complex I deficiency isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome SATB2-associated syndrome Orphanet:576278 MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:224 Neonatal diabetes mellitus monogenic diabetes of infancy Orphanet:224 MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:99885 Isolated permanent neonatal diabetes mellitus monogenic diabetes of infancy Orphanet:99885 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym GTPCH deficiency Orphanet:2102 GTP cyclohydrolase I deficiency GTPCH deficiency Orphanet:2102 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym hyperphenylalaninemia due to GTP cyclohydrolase deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 GTP cyclohydrolase I deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 @@ -13409,8 +13285,8 @@ MONDO:0100508 salivary gland type cancer of the breast oio:hasExactSynonym sali MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym deoxyguanosine kinase deficiency deoxyguanosine kinase deficiency Deoxyguanosine kinase deficiency Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form deoxyguanosine kinase deficiency Orphanet:254871 MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oio:hasExactSynonym Kozlowski-Tsuruta syndrome Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Kozlowski-Tsuruta syndrome Orphanet:2204 -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Del(16)(p13.2) del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 +MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16P13.2 deletion syndrome chromosome 16P13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion chromosome 16P13.2 deletion syndrome Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16p13.2 deletion syndrome chromosome 16p13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion chromosome 16p13.2 deletion syndrome Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym monosomy 16p13.2 monosomy 16p13.2 Monosomy 16p13.2 Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion monosomy 16p13.2 Orphanet:500055 @@ -13423,8 +13299,8 @@ MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym HAE w MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioedema with normal C1 inhibitor hereditary angioedema with normal C1 inhibitor Hereditary angioedema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioedema with normal C1 inhibitor Orphanet:528647 MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1 inhibitor hereditary angioneurotic edema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1Inh hereditary angioneurotic edema with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioneurotic edema with normal C1Inh Orphanet:528647 -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym 4H leukodystrophy Orphanet:289494 4H leukodystrophy 4H leukodystrophy Orphanet:289494 MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym POLR-related leukodystrophy Orphanet:289494 4H leukodystrophy POLR-related leukodystrophy Orphanet:289494 @@ -13448,8 +13324,6 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant oio:hasExactSynonym FDFM Orphanet:324588 Familial dyskinesia and facial myokymia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FDFM Orphanet:324588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Orphanet:2032 Idiopathic pulmonary fibrosis Idiopathic Pulmonary Fibrosis Orphanet:2032 MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia familial intestinal polyatresia syndrome Orphanet:2300 -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym FIPA Orphanet:314777 Familial isolated pituitary adenoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FIPA Orphanet:314777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum CID-MIA/early-onset IBD Orphanet:436252 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Orphanet:436252 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym Schwartz-Jampel syndrome type 2 Orphanet:3206 Stüve-Wiedemann syndrome Schwartz-Jampel syndrome type 2 Orphanet:3206 diff --git a/src/ontology/reports/sync-synonym/ordo.synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/ordo.synonyms.updated.robot.tsv index 393830d9..dd949066 100644 --- a/src/ontology/reports/sync-synonym/ordo.synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/ordo.synonyms.updated.robot.tsv @@ -5,25 +5,16 @@ MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym rare ataxia rare ataxia Rare ataxia Orphanet:102002 Rare ataxia Orphanet:102002 rare ataxia Orphanet:102002 MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome Orphanet:51083 Familial short QT syndrome Orphanet:51083 familial short QT syndrome Orphanet:51083 MONDO:0000455 cone dystrophy oio:hasExactSynonym oio:hasNarrowSynonym progressive cone dystrophy progressive cone dystrophy Progressive cone dystrophy Orphanet:1871 Progressive cone dystrophy https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871 progressive cone dystrophy Orphanet:1871 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:D004422 Idiopathic torsion dystonia Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans dystonia musculorum deformans Dystonia musculorum deformans Orphanet:256 Early-onset generalized limb-onset dystonia DOID:0050835 dystonia musculorum deformans Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia ICD9CM:333.6, DOID:0050835 idiopathic torsion dystonia Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 dystonia 12 Dystonia 12 Orphanet:71517 Rapid-onset dystonia-parkinsonism DOID:0050835 dystonia 12 Orphanet:71517 MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary essential myoclonus Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 Hereditary essential myoclonus Orphanet:36899 MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-responsive dystonia alcohol-responsive dystonia Alcohol-responsive dystonia Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 alcohol-responsive dystonia Orphanet:36899 MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym genetic periodic paralysis genetic periodic paralysis Genetic periodic paralysis Orphanet:371433 Genetic periodic paralysis Orphanet:371433, GARD:0006422 genetic periodic paralysis Orphanet:371433 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus flea-borne typhus Flea-borne typhus Orphanet:83315 Murine typhus DOID:11256 flea-borne typhus Orphanet:83315 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus murine typhus Murine typhus Orphanet:83315 Murine typhus DOID:11256 murine typhus Orphanet:83315 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis Orphanet:280892 Posterior uveitis NORD:1601 Posterior Uveitis Orphanet:280892 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis Orphanet:280892 Posterior uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis Orphanet:280892 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis Orphanet:3386 American trypanosomiasis DOID:12140 American trypanosomiasis Orphanet:3386 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Orphanet:93473 Hurler syndrome DOID:12802 Hurler syndrome Orphanet:93473 MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasNarrowSynonym BHC Orphanet:1429 Benign hereditary chorea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 BHC Orphanet:1429 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasNarrowSynonym rare constitutional aplastic anemia rare constitutional aplastic anemia Rare constitutional aplastic anemia Orphanet:68383 Rare constitutional aplastic anemia Orphanet:68383 rare constitutional aplastic anemia Orphanet:68383 MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasRelatedSynonym LM Orphanet:2415 Rare lymphatic malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2415 LM Orphanet:2415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:66637 Diaphanospondylodysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD Orphanet:66637 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:90771 Difference of sex development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD Orphanet:90771 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of lipid metabolism disorder of lipid metabolism Disorder of lipid metabolism Orphanet:309005 Disorder of lipid metabolism MONDO:0017707 disorder of lipid metabolism Orphanet:309005 MONDO:0002653 Paget disease of the penis oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of the penis adenocarcinoma of the penis Adenocarcinoma of the penis Orphanet:398053 Adenocarcinoma of the penis Orphanet:398053 adenocarcinoma of the penis Orphanet:398053 MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilkie syndrome Orphanet:622099 Superior mesenteric artery syndrome GARD:0007712 Wilkie syndrome Orphanet:622099 @@ -40,25 +31,18 @@ MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:h MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma of the bladder small cell carcinoma of the bladder Small cell carcinoma of the bladder Orphanet:284400 Small cell carcinoma of the bladder Orphanet:284400 small cell carcinoma of the bladder Orphanet:284400 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym oio:hasRelatedSynonym chronic lymphoproliferative disorder of natural killer cells chronic lymphoproliferative disorder of natural killer cells Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 MONDO:0004334 non-functional pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym non-functioning neuroendocrine tumor of pancreas non-functioning neuroendocrine tumor of pancreas Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 non-functioning neuroendocrine tumor of pancreas Orphanet:506075 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma Orphanet:86902 Follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma Orphanet:86902 MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell carcinoma of the cervix uteri glassy cell carcinoma of the cervix uteri Glassy cell carcinoma of the cervix uteri Orphanet:213833 Glassy cell carcinoma of the cervix uteri Orphanet:213833 glassy cell carcinoma of the cervix uteri Orphanet:213833 MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of urea cycle metabolism and ammonia detoxification disorder of urea cycle metabolism and ammonia detoxification Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 MONDO:0004745 priapism oio:hasExactSynonym oio:hasNarrowSynonym low-flow priapism low-flow priapism Low-flow priapism Orphanet:140949 Low-flow priapism Orphanet:140949 low-flow priapism Orphanet:140949 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym small lymphocytic lymphoma small lymphocytic lymphoma Small lymphocytic lymphoma Orphanet:67038 B-cell chronic lymphocytic leukemia Orphanet:67038 small lymphocytic lymphoma Orphanet:67038 -MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym familial dilated cardiomyopathy familial dilated cardiomyopathy Familial dilated cardiomyopathy Orphanet:217607 Familial dilated cardiomyopathy DOID:12930, MESH:C536231 familial dilated cardiomyopathy Orphanet:217607 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET Orphanet:3318 Essential thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 ET Orphanet:3318 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Orphanet:801 Scleroderma DOID:418 Scleroderma Orphanet:801 MONDO:0005103 well-differentiated liposarcoma oio:hasExactSynonym oio:hasBroadSynonym atypical lipomatous tumor atypical lipomatous tumor Atypical lipomatous tumor Orphanet:99971 Well-differentiated liposarcoma Orphanet:99971 atypical lipomatous tumor Orphanet:99971 -MONDO:0005201 restrictive cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Orphanet:217635 Familial restrictive cardiomyopathy DOID:397 familial restrictive cardiomyopathy Orphanet:217635 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma Orphanet:319319 Renal medullary carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma Orphanet:319319 MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Fuchs endothelial corneal dystrophy Orphanet:98974 Fuchs endothelial corneal dystrophy Orphanet:98974 Fuchs endothelial corneal dystrophy Orphanet:98974 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism Orphanet:228371 Foodborne botulism DOID:11976 foodborne botulism Orphanet:228371 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma Orphanet:86855 Plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 solitary plasmacytoma Orphanet:86855 MONDO:0005645 ancylostomiasis oio:hasExactSynonym oio:hasBroadSynonym hookworm infection hookworm infection Hookworm infection Orphanet:78 Ankylostomiasis Orphanet:78 hookworm infection Orphanet:78 MONDO:0005674 bone giant cell tumor oio:hasExactSynonym oio:hasRelatedSynonym osteoclastoma osteoclastoma Osteoclastoma Orphanet:363976 Giant cell tumor of bone DOID:4305 osteoclastoma Orphanet:363976 MONDO:0005774 glanders oio:hasExactSynonym oio:hasRelatedSynonym Burkholderia mallei infection Orphanet:659908 Glanders GARD:0009536 Burkholderia mallei infection Orphanet:659908 MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of pancreas neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of pancreas Orphanet:506052 Neuroendocrine neoplasm of pancreas Orphanet:506052 neuroendocrine neoplasm of pancreas Orphanet:506052 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Orphanet:443909 Hereditary nonpolyposis colon cancer DOID:3883 hereditary nonpolyposis colorectal cancer Orphanet:443909 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine carcinoma of pancreas neuroendocrine carcinoma of pancreas Neuroendocrine carcinoma of pancreas Orphanet:506098 Neuroendocrine carcinoma of pancreas Orphanet:506098 neuroendocrine carcinoma of pancreas Orphanet:506098 MONDO:0006037 hydrolethalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrolethalus hydrolethalus Hydrolethalus Orphanet:2189 Hydrolethalus Orphanet:2189 hydrolethalus Orphanet:2189 MONDO:0006045 ovarian clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the ovary clear cell adenocarcinoma of the ovary Clear cell adenocarcinoma of the ovary Orphanet:398971 Clear cell adenocarcinoma of the ovary Orphanet:398971 clear cell adenocarcinoma of the ovary Orphanet:398971 @@ -79,40 +63,27 @@ MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-derm MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I familial hyperaldosteronism type I Familial hyperaldosteronism type I Orphanet:403 Familial hyperaldosteronism type I Orphanet:403 familial hyperaldosteronism type I Orphanet:403 MONDO:0007095 ameloonychohypohidrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym amelo-onycho-hypohidrotic syndrome amelo-onycho-hypohidrotic syndrome Amelo-onycho-hypohidrotic syndrome Orphanet:1028 Amelo-onycho-hypohidrotic syndrome ISBN-13:978-88-470-0687-4 amelo-onycho-hypohidrotic syndrome Orphanet:1028 MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis Orphanet:85448 AGel amyloidosis Orphanet:85448 AGel amyloidosis Orphanet:85448 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy cerebral amyloid angiopathy Cerebral Amyloid Angiopathy Orphanet:85458 Cerebral Amyloid Angiopathy OMIM:105150, OMIM:genemap2 cerebral amyloid angiopathy Orphanet:85458 -MONDO:0007101 familial primary localized cutaneous amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary localized cutaneous amyloidosis primary localized cutaneous amyloidosis Primary localized cutaneous amyloidosis Orphanet:137807 Primary cutaneous amyloidosis GARD:0000132 primary localized cutaneous amyloidosis Orphanet:137807 MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym oio:hasRelatedSynonym hereditary neurocutaneous malformation hereditary neurocutaneous malformation Hereditary neurocutaneous malformation Orphanet:1062 Hereditary neurocutaneous malformation Orphanet:1062 hereditary neurocutaneous malformation Orphanet:1062 MONDO:0007118 isolated anhidrosis with normal sweat glands oio:hasExactSynonym oio:hasRelatedSynonym isolated generalized anhidrosis with normal sweat glands isolated generalized anhidrosis with normal sweat glands Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 isolated generalized anhidrosis with normal sweat glands Orphanet:468666 MONDO:0007127 diffuse idiopathic skeletal hyperostosis oio:hasExactSynonym oio:hasRelatedSynonym ankylosing vertebral hyperostosis with tylosis ankylosing vertebral hyperostosis with tylosis Ankylosing vertebral hyperostosis with tylosis Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis OMIM:106400 ankylosing vertebral hyperostosis with tylosis Orphanet:2206 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome DOID:4297 scimitar syndrome Orphanet:185 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome Renal-ear-anal-radial syndrome Orphanet:857 Townes-Brocks syndrome OMIM:107480 renal-Ear-anal-radial syndrome Orphanet:857 -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC Orphanet:1501 Adrenocortical carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC Orphanet:1501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 -MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym APCA Orphanet:624244 Postinfectious cerebellitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009602 APCA Orphanet:624244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym familial paroxysmal ataxia familial paroxysmal ataxia Familial paroxysmal ataxia Orphanet:97 Familial paroxysmal ataxia Orphanet:97 familial paroxysmal ataxia Orphanet:97 MONDO:0007164 spastic ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic ataxia type 1 autosomal dominant spastic ataxia type 1 Autosomal dominant spastic ataxia type 1 Orphanet:251282 Autosomal dominant spastic ataxia type 1 Orphanet:251282 autosomal dominant spastic ataxia type 1 Orphanet:251282 MONDO:0007165 spastic ataxia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic ataxia with congenital miosis spastic ataxia with congenital miosis Spastic ataxia with congenital miosis Orphanet:1182 Spastic ataxia with congenital miosis OMIM:108650 spastic ataxia with congenital miosis Orphanet:1182 MONDO:0007168 atelosteogenesis type III oio:hasExactSynonym oio:hasRelatedSynonym AOIII Aoiii AOIII Orphanet:56305 Atelosteogenesis type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108721 AOIII Orphanet:56305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy Orphanet:86813 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 SVEINSSON chorioretinal atrophy Orphanet:86813 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasExactSynonym oio:hasRelatedSynonym BPES type 1 Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 GARD:0000023 BPES type 1 Orphanet:572354 MONDO:0007209 Weismann-Netter syndrome oio:hasExactSynonym oio:hasRelatedSynonym Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose diaphysaire tibio-peroniere Orphanet:3344 Weismann-Netter syndrome OMIM:112350 Toxopachyosteose Diaphysaire Tibio-Peroniere Orphanet:3344 MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome Orphanet:93382 Brachydactyly type A6 OMIM:112910 OSEBOLD-Remondini syndrome Orphanet:93382 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma Orphanet:449 Hepatoblastoma OMIM:114550 hepatoblastoma Orphanet:449 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte adhesion deficiency Orphanet:2968 Leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency Orphanet:2968 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD lad LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:116920 LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome Orphanet:1393 Cerebrocostomandibular syndrome OMIM:117650 CEREBROCOSTOMANDIBULAR syndrome Orphanet:1393 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2A1 autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 MONDO:0007315 cherubism oio:hasExactSynonym oio:hasRelatedSynonym CRBM Crbm CRBM Orphanet:184 Cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118400 CRBM Orphanet:184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym congenital pseudoarthrosis of the clavicle congenital pseudoarthrosis of the clavicle Congenital pseudoarthrosis of the clavicle Orphanet:66630 Congenital pseudoarthrosis of the clavicle Orphanet:66630 congenital pseudoarthrosis of the clavicle Orphanet:66630 MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasBroadSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome Orphanet:1300 facio-genito-popliteal syndrome Orphanet:1300 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome Orphanet:294963 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 popliteal pterygium syndrome Orphanet:294963 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome Orphanet:2016 Cleft palate-lateral synechia syndrome OMIM:119550 Cpls syndrome Orphanet:2016 MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Orphanet:1997 Blepharo-cheilo-odontic syndrome OMIM:119580, GARD:0002071 Elschnig syndrome Orphanet:1997 -MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym morning glory Disc anomaly morning glory Disc anomaly Morning glory disc anomaly Orphanet:35737 Morning glory disc anomaly OMIM:120430 morning glory Disc anomaly Orphanet:35737 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc Orphanet:98947 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc Orphanet:98947 MONDO:0007368 familial benign copper deficiency oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypocupremia familial benign hypocupremia Familial benign hypocupremia Orphanet:1551 Familial benign copper deficiency GARD:0001522 familial benign hypocupremia Orphanet:1551 -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Orphanet:659672 Harderoporphyria OMIM:121300 Harderoporphyria Orphanet:659672 -MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CFD Cfd CFD Orphanet:1987 Isolated femoral agenesis/hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:121850 CFD Orphanet:1987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym CORNEODERMATOOSSEOUS syndrome CORNEODERMATOOSSEOUS syndrome Corneodermatoosseous syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 CORNEODERMATOOSSEOUS syndrome Orphanet:3194 MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cdo syndrome Cdo syndrome CDO syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 Cdo syndrome Orphanet:3194 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym monosomy 5p monosomy 5p Monosomy 5p Orphanet:281 Monosomy 5p Orphanet:281 monosomy 5p Orphanet:281 @@ -121,14 +92,9 @@ MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym oio:hasR MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ddod syndrome Ddod syndrome DDOD syndrome Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome OMIM:124480 Ddod syndrome Orphanet:79499 MONDO:0007435 dentatorubral-pallidoluysian atrophy oio:hasExactSynonym oio:hasRelatedSynonym dentatorubral pallidoluysian atrophy dentatorubral pallidoluysian atrophy Dentatorubral pallidoluysian atrophy Orphanet:101 Dentatorubral pallidoluysian atrophy Orphanet:101 dentatorubral pallidoluysian atrophy Orphanet:101 MONDO:0007437 dentin dysplasia type II oio:hasExactSynonym oio:hasRelatedSynonym DTDP2 Dtdp2 DTDP2 Orphanet:99791 Dentin dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125420 DTDP2 Orphanet:99791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta dentinogenesis imperfecta without osteogenesis imperfecta Dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym opalescent teeth without osteogenesis imperfecta opalescent teeth without osteogenesis imperfecta Opalescent teeth without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 opalescent teeth without osteogenesis imperfecta Orphanet:49042 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym Cayler cardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:125520 Cayler cardiofacial syndrome Orphanet:567 MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DERMOODONTODYSPLASIA DERMOODONTODYSPLASIA Dermoodontodysplasia Orphanet:1660 Dermoodontodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125640 DERMOODONTODYSPLASIA Orphanet:1660 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic diabetes insipidus Orphanet:178029 Arginine vasopressin deficiency NCIT:C84933 neurogenic diabetes insipidus Orphanet:178029 MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial drusen familial drusen Familial drusen Orphanet:75376 Familial drusen Orphanet:75376 familial drusen Orphanet:75376 MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome Orphanet:2616 3M syndrome MESH:C535314 3M syndrome Orphanet:2616 -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Orphanet:2333 Kenny-Caffey syndrome OMIM:127000 Kenny syndrome Orphanet:2333 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset Primary dystonia Early-onset Primary dystonia Early-onset primary dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 Early-onset Primary dystonia Orphanet:256 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 Early-onset torsion dystonia Orphanet:256 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia Orphanet:256 idiopathic torsion dystonia Orphanet:256 @@ -142,72 +108,47 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasia Ehlers-Danlos syndrome arthrochalasia Ehlers-Danlos syndrome Arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084 arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita arthrochalasis multiplex congenita Arthrochalasis multiplex congenita Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084, MESH:C562625, OMIM:130060 arthrochalasis multiplex congenita Orphanet:1899 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym AEDS AEDS aEDS Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002084 AEDS Orphanet:1899 -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplastic Ehlers-Danlos syndrome spondylodysplastic Ehlers-Danlos syndrome Spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome GARD:0009991 spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym pEDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 pEDS Orphanet:75392 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal EDS periodontal EDS Periodontal EDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 periodontal EDS Orphanet:75392 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal Ehlers-Danlos syndrome periodontal Ehlers-Danlos syndrome Periodontal Ehlers-Danlos syndrome Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 periodontal Ehlers-Danlos syndrome Orphanet:75392 -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007542 Camurati-Engelmann disease oio:hasExactSynonym oio:hasRelatedSynonym CED Orphanet:1515 Cranioectodermal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131300 CED Orphanet:1515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form MONDO:Lexical, OMIM:131760 epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBS with mottled pigmentation Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation GARD:0009737 EBS with mottled pigmentation Orphanet:79397 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym oio:hasRelatedSynonym primary familial polycythemia primary familial polycythemia Primary familial polycythemia Orphanet:90042 Primary familial polycythemia Orphanet:90042 primary familial polycythemia Orphanet:90042 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Orphanet:1929 Rasmussen subacute encephalitis OMIM:133705 Rasmussen syndrome Orphanet:1929 MONDO:0007590 hemifacial hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia hemifacial hyperplasia Hemifacial hyperplasia Orphanet:141145 Hemifacial hyperplasia OMIM:133900 hemifacial hyperplasia Orphanet:141145 MONDO:0007600 primary Fanconi syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary Fanconi renotubular syndrome primary Fanconi renotubular syndrome Primary Fanconi renotubular syndrome Orphanet:3337 Primary Fanconi renotubular syndrome Orphanet:3337 primary Fanconi renotubular syndrome Orphanet:3337 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva Orphanet:337 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva Orphanet:337 MONDO:0007620 fish eye disease oio:hasExactSynonym oio:hasRelatedSynonym fish-eye disease fish-eye disease Fish-eye disease Orphanet:79292 Fish-eye disease OMIM:136120 fish-eye disease Orphanet:79292 -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia Orphanet:250 Frontonasal dysplasia OMIM:136760 frontonasal dysplasia Orphanet:250 -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens Orphanet:52427 Retinitis punctata albescens DOID:11105, OMIM:136880 retinitis punctata albescens Orphanet:52427 MONDO:0007640 Sorsby fundus dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 MONDO:0007646 Gamstorp-Wohlfart syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal neuropathy with neuromyotonia autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym oio:hasRelatedSynonym GSD Orphanet:79201 Glycogen storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137440, MONDO:Lexical GSD Orphanet:79201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 maturity-onset diabetes of the young type 5 Maturity-onset diabetes of the young type 5 Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease DOID:0111101 maturity-onset diabetes of the young type 5 Orphanet:93111 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis Orphanet:83454 Glomuvenous malformation Orphanet:83454 glomangiomatosis Orphanet:83454 MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre syndrome Orphanet:2588 Myhre syndrome OMIM:139210 MYHRE syndrome Orphanet:2588 MONDO:0007693 hypertrichosis cubiti-short stature syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis cubiti hypertrichosis cubiti Hypertrichosis cubiti Orphanet:2220 Hypertrichosis cubiti OMIM:139600, GARD:0000143 hypertrichosis cubiti Orphanet:2220 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA Orphanet:1214 Progressive hemifacial atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 PHA Orphanet:1214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm Orphanet:221083 Hemifacial spasm Orphanet:221083 hemifacial spasm Orphanet:221083 -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym atriodigital dysplasia atriodigital dysplasia Atriodigital dysplasia Orphanet:228184 Heart-hand syndrome OMIM:142900, DOID:0060468 atriodigital dysplasia Orphanet:228184 -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym heart-hand syndrome heart-hand syndrome Heart-hand syndrome Orphanet:228184 Heart-hand syndrome DOID:0060468, OMIM:142900 heart-hand syndrome Orphanet:228184 -MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasBroadSynonym hyperalphalipoproteinemia hyperalphalipoproteinemia Hyperalphalipoproteinemia Orphanet:181428 Hyperalphalipoproteinemia OMIM:143470, OMIM:genemap2 hyperalphalipoproteinemia Orphanet:181428 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym diffuse erythrodermic palmoplantar keratoderma, Vörner type diffuse erythrodermic palmoplantar keratoderma, Vörner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym epidermolytic palmoplantar keratoderma of Vörner epidermolytic palmoplantar keratoderma of Vörner Epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 -MONDO:0007772 pseudohypoaldosteronism type 2A oio:hasExactSynonym oio:hasRelatedSynonym Gordon hyperkalemia-hypertension syndrome Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:145260 Gordon hyperkalemia-hypertension syndrome Orphanet:757 MONDO:0007787 Ambras type hypertrichosis universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized hypertrichosis, Ambras type congenital generalized hypertrichosis, Ambras type Congenital generalized hypertrichosis, Ambras type Orphanet:1023 Congenital generalized hypertrichosis, Ambras type Orphanet:1023 congenital generalized hypertrichosis, Ambras type Orphanet:1023 MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis exfoliativa ichthyosis exfoliativa Ichthyosis exfoliativa Orphanet:289586 Exfoliative ichthyosis OMIM:146800 ichthyosis exfoliativa Orphanet:289586 MONDO:0007827 inclusion body myositis oio:hasExactSynonym oio:hasRelatedSynonym IBM Ibm IBM Orphanet:611 Inclusion body myositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147421 IBM Orphanet:611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 IVIC syndrome OMIM:147750 radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome chromosome 11q deletion syndrome Chromosome 11q deletion syndrome Orphanet:2308 Jacobsen syndrome OMIM:147791 chromosome 11q deletion syndrome Orphanet:2308 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS Orphanet:2315 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS Orphanet:2315 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym KERATOENDOTHELIITIS fugax hereditaria KERATOENDOTHELIITIS fugax hereditaria Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 KERATOENDOTHELIITIS fugax hereditaria Orphanet:647815 MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 Keratoendotheliitis fugax hereditaria Orphanet:647815 MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema Orphanet:50943 Keratolytic winter erythema OMIM:148370 keratolytic WINTER erythema Orphanet:50943 MONDO:0007866 Bart-Pumphrey syndrome oio:hasExactSynonym oio:hasRelatedSynonym knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 -MONDO:0007871 familial congenital nasolacrimal duct obstruction oio:hasExactSynonym oio:hasRelatedSynonym LCDD Orphanet:93558 Light chain deposition disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:149700 LCDD Orphanet:93558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:hasRelatedSynonym Moynahan syndrome Orphanet:2574 Moynahan syndrome DOID:14291 Moynahan syndrome Orphanet:2574 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym acute monoblastic/monocytic leukemia acute monoblastic/monocytic leukemia Acute monoblastic/monocytic leukemia Orphanet:514 Acute monoblastic/monocytic leukemia ONCOTREE:AMOL acute monoblastic/monocytic leukemia Orphanet:514 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Orphanet:2398 Multiple symmetric lipomatosis Orphanet:2398 Madelung disease Orphanet:2398 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-lymphedema-chorioretinopathy syndrome microcephaly-lymphedema-chorioretinopathy syndrome Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 MONDO:0007921 yellow nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym YNS Yns YNS Orphanet:662 Yellow nail syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:153300 YNS Orphanet:662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia Orphanet:156207 Macroglossia OMIM:153630 macroglossia Orphanet:156207 MONDO:0007935 cystoid macular edema oio:hasExactSynonym oio:hasRelatedSynonym cystoid macular dystrophy cystoid macular dystrophy Cystoid macular dystrophy Orphanet:75381 Cystoid macular dystrophy OMIM:153880 cystoid macular dystrophy Orphanet:75381 MONDO:0007937 renal hypomagnesemia 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant primary hypomagnesemia with hypocalciuria autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria DOID:0060885 autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa Orphanet:79457 Maculopapular cutaneous mastocytosis OMIM:154800 urticaria pigmentosa Orphanet:79457 MONDO:0007953 Binder syndrome oio:hasExactSynonym oio:hasRelatedSynonym maxillonasal dysplasia maxillonasal dysplasia Maxillonasal dysplasia Orphanet:1248 Maxillonasal dysplasia Orphanet:1248 maxillonasal dysplasia Orphanet:1248 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma medullary thyroid carcinoma Medullary thyroid carcinoma Orphanet:1332 Medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 medullary thyroid carcinoma Orphanet:1332 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MTC Orphanet:1332 Medullary thyroid carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155240, MONDO:Lexical MTC Orphanet:1332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity Orphanet:251858 Medulloblastoma with extensive nodularity OMIM:155255 medulloblastoma with extensive nodularity Orphanet:251858 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor NCIT:C5398, DOID:0050902 CNS PNET Orphanet:251870 MONDO:0007977 mesomelic dysplasia, Kantaputra type oio:hasExactSynonym oio:hasRelatedSynonym MDK Mdk MDK Orphanet:1836 Mesomelic dysplasia, Kantaputra type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156232 MDK Orphanet:1836 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis Orphanet:2499 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS Orphanet:2499 MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis Orphanet:1077 Dental ankylosis OMIM:157950 dental ankylosis Orphanet:1077 MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia and hyperandrogenism Orphanet:247768 Müllerian aplasia and hyperandrogenism Orphanet:247768 Müllerian aplasia and hyperandrogenism Orphanet:247768 -MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Isaacs-Mertens syndrome Orphanet:84142 Isaacs syndrome OMIM:160120, https://www.ncbi.nlm.nih.gov/books/NBK25442/ Isaacs-Mertens syndrome Orphanet:84142 -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy myosin storage myopathy Myosin storage myopathy Orphanet:53698 Myosin storage myopathy PMID:24664454, PMID:22918376 myosin storage myopathy Orphanet:53698 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym Steinert myotonic dystrophy Orphanet:273 Steinert myotonic dystrophy Orphanet:273 Steinert myotonic dystrophy Orphanet:273 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI syndrome Orphanet:69087 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome Orphanet:69087 @@ -216,16 +157,9 @@ MONDO:0008060 nonsyndromic congenital nail disorder 1 oio:hasExactSynonym oio:ha MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym MCKD2 Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:603860 MCKD2 Orphanet:88950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic neutropenia Orphanet:2686 Cyclic neutropenia OMIM:162800 cyclic neutropenia Orphanet:2686 -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym oio:hasRelatedSynonym CMC Orphanet:1334 Chronic mucocutaneous candidiasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:163000, MONDO:Lexical CMC Orphanet:1334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym epidermal nevus syndrome epidermal nevus syndrome Epidermal nevus syndrome Orphanet:35125 Epidermal nevus syndrome OMIM:163200 epidermal nevus syndrome Orphanet:35125 MONDO:0008098 mesomelic dwarfism, Nievergelt type oio:hasExactSynonym oio:hasRelatedSynonym mesomelic dysplasia, Nievergelt type mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Nievergelt type Orphanet:2633 Mesomelic dysplasia, Nievergelt type OMIM:163400 mesomelic dysplasia, Nievergelt type Orphanet:2633 -MONDO:0008101 familial supernumerary nipples oio:hasExactSynonym oio:hasRelatedSynonym polymastia polymastia Polymastia Orphanet:180182 Supernumerary breasts OMIM:163700 polymastia Orphanet:180182 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome Orphanet:1305 Feingold syndrome OMIM:164280 Feingold syndrome Orphanet:1305 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Oded syndrome Oded syndrome ODED syndrome Orphanet:1305 Feingold syndrome OMIM:164280 Oded syndrome Orphanet:1305 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 Feingold syndrome OMIM:164280 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 MONDO:0008150 osteoglophonic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Osteoglosphonic dysplasia Orphanet:2645 Osteoglosphonic dysplasia Orphanet:2645 Osteoglosphonic dysplasia Orphanet:2645 MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia Orphanet:53697 Gnathodiaphyseal dysplasia OMIM:166260 GNATHODIAPHYSEAL dysplasia Orphanet:53697 -MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootodental syndrome oculootodental syndrome Oculootodental syndrome Orphanet:99806 Oculootodental syndrome OMIM:166750 oculootodental syndrome Orphanet:99806 MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis Orphanet:98868 hereditary ovalocytosis Orphanet:98868 MONDO:0008182 nasopalpebral lipoma-coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym NASOPALPEBRAL lipoma-coloboma syndrome NASOPALPEBRAL lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma syndrome Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome OMIM:167730 NASOPALPEBRAL lipoma-coloboma syndrome Orphanet:2399 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia congenita of Von Eulenburg Orphanet:684 Paramyotonia congenita of Von Eulenburg OMIM:168300 paramyotonia congenita of VON Eulenburg Orphanet:684 @@ -233,24 +167,14 @@ MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome Orphanet:46627 Char syndrome OMIM:169100 CHAR syndrome Orphanet:46627 MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Orphanet:46627 Char syndrome OMIM:169100 patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Orphanet:46627 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type oio:hasExactSynonym oio:hasRelatedSynonym Patterson pseudoleprechaunism syndrome Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type OMIM:169170 Patterson pseudoleprechaunism syndrome Orphanet:2976 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroadSynonym pityriasis rubra pilaris pityriasis rubra pilaris Pityriasis rubra pilaris Orphanet:2897 Pityriasis rubra pilaris MONDO:Lexical, OMIM:173200 pityriasis rubra pilaris Orphanet:2897 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome Orphanet:2908 Kindler epidermolysis bullosa OMIM:173650 KINDLER syndrome Orphanet:2908 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous poikiloderma congenital bullous poikiloderma Congenital bullous poikiloderma Orphanet:2908 Kindler epidermolysis bullosa GARD:0004391 congenital bullous poikiloderma Orphanet:2908 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant tubulointerstitial kidney disease autosomal dominant tubulointerstitial kidney disease Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 autosomal dominant tubulointerstitial kidney disease Orphanet:34149 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease medullary cystic kidney disease Medullary cystic kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease GARD:0010801 medullary cystic kidney disease Orphanet:34149 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone NCIT:C34609 fibrous dysplasia of bone Orphanet:249 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease Orphanet:85195 Familial expansile osteolysis OMIM:174810 Mccabe disease Orphanet:85195 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile intestinal polyposis juvenile intestinal polyposis Juvenile intestinal polyposis Orphanet:2929 Juvenile polyposis syndrome OMIM:174900 juvenile intestinal polyposis Orphanet:2929 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome juvenile polyposis syndrome Juvenile polyposis syndrome Orphanet:2929 Juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 juvenile polyposis syndrome Orphanet:2929 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym JPS jPS JPS Orphanet:2929 Juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:174900 JPS Orphanet:2929 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis punctata palmaris Et plantaris porokeratosis punctata palmaris Et plantaris Porokeratosis punctata palmaris et plantaris Orphanet:79502 Punctate palmoplantar keratoderma type 2 OMIM:175860 porokeratosis punctata palmaris Et plantaris Orphanet:79502 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda Orphanet:101330 Porphyria cutanea tarda OMIM:176100 porphyria cutanea tarda Orphanet:101330 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176100 PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata Orphanet:79473 Variegate porphyria OMIM:176200 porphyria variegata Orphanet:79473 MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome Orphanet:1552 Currarino syndrome OMIM:176450 CURRARINO syndrome Orphanet:1552 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria Orphanet:740 Hutchinson-Gilford progeria syndrome OMIM:176670, Orphanet:740 progeria Orphanet:740 @@ -260,7 +184,6 @@ MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRe MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 PUPPP Orphanet:64745 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008365 recombinant 8 syndrome oio:hasExactSynonym oio:hasRelatedSynonym RECOMBINANT chromosome 8 syndrome RECOMBINANT chromosome 8 syndrome Recombinant chromosome 8 syndrome Orphanet:96167 Recombinant 8 syndrome OMIM:179613 RECOMBINANT chromosome 8 syndrome Orphanet:96167 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea Orphanet:91481 Ring dermoid of cornea OMIM:180550 RING dermoid of cornea Orphanet:91481 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym oio:hasRelatedSynonym broad thumb-hallux syndrome broad thumb-hallux syndrome Broad thumb-hallux syndrome Orphanet:783 Rubinstein-Taybi syndrome OMIM:180849 broad thumb-hallux syndrome Orphanet:783 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic salivary gland adenoma pleomorphic salivary gland adenoma Pleomorphic salivary gland adenoma Orphanet:454821 Pleomorphic salivary gland adenoma Orphanet:454821 pleomorphic salivary gland adenoma Orphanet:454821 MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome Orphanet:2036 Scalp-ear-nipple syndrome OMIM:181270 scalp-EAR-nipple syndrome Orphanet:2036 MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym HURIEZ syndrome HURIEZ syndrome Huriez syndrome Orphanet:384 Huriez syndrome OMIM:181600 HURIEZ syndrome Orphanet:384 @@ -272,11 +195,9 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym SMAFK Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182980, MONDO:Lexical SMAFK Orphanet:209335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome SGFLD syndrome Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome OMIM:183300 Sgfld syndrome Orphanet:2063 MONDO:0008471 spondyloepiphyseal dysplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital spondyloepiphyseal dysplasia congenital spondyloepiphyseal dysplasia Congenital spondyloepiphyseal dysplasia Orphanet:94068 Spondyloepiphyseal dysplasia congenita Orphanet:94068, ORCID:0000-0001-8612-1062 congenital spondyloepiphyseal dysplasia Orphanet:94068 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia Orphanet:254 Spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia Orphanet:254 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia congenita, Strudwick type spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex Steatocystoma multiplex Orphanet:841 Sebocystomatosis OMIM:184500 STEATOCYSTOMA multiplex Orphanet:841 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome Steinfeld syndrome Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome OMIM:184705 STEINFELD syndrome Orphanet:3186 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome Orphanet:2833 Stiff skin syndrome OMIM:184900 STIFF skin syndrome Orphanet:2833 @@ -284,10 +205,8 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha delta granule deficiency alpha delta granule deficiency Alpha delta granule deficiency Orphanet:734 Alpha delta granule deficiency Orphanet:734 alpha delta granule deficiency Orphanet:734 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym STRATTON-PARKER syndrome STRATTON-PARKER syndrome Stratton-Parker syndrome Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome OMIM:185120 STRATTON-PARKER syndrome Orphanet:2863 -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type Orphanet:1527 Craniosynostosis, Philadelphia type OMIM:185900 craniosynostosis, Philadelphia type Orphanet:1527 MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym LIEBENBERG syndrome LIEBENBERG syndrome Liebenberg syndrome Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome OMIM:186550 LIEBENBERG syndrome Orphanet:1275 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot Orphanet:3303 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT Orphanet:3303 -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric dysplasia Orphanet:2655 Thanatophoric dysplasia OMIM:187600 thanatophoric dysplasia Orphanet:2655 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia Orphanet:3002 Immune thrombocytopenia Orphanet:3002 immune thrombocytopenia Orphanet:3002 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura Orphanet:3002 Immune thrombocytopenia OMIM:188030 immune thrombocytopenic purpura Orphanet:3002 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 @@ -299,15 +218,10 @@ MONDO:0008619 ulna metaphyseal dysplasia syndrome oio:hasExactSynonym oio:hasRel MONDO:0008620 upper limb mesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ulna hypoplasia ulna hypoplasia Ulna hypoplasia Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns Orphanet:2497 ulna hypoplasia Orphanet:2497 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome Orphanet:575 Muckle-Wells syndrome OMIM:191900 MUCKLE-Wells syndrome Orphanet:575 MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym CHOREOACANTHOCYTOSIS CHOREOACANTHOCYTOSIS Choreoacanthocytosis Orphanet:2388 Choreoacanthocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:200150 CHOREOACANTHOCYTOSIS Orphanet:2388 -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis neuroacanthocytosis Neuroacanthocytosis Orphanet:263440 Neuroacanthocytosis OMIM:200150 neuroacanthocytosis Orphanet:263440 MONDO:0008701 achondrogenesis type IA oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1A achondrogenesis type 1A Achondrogenesis type 1A Orphanet:93299 Achondrogenesis type 1A Orphanet:93299 achondrogenesis type 1A Orphanet:93299 MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 2 achondrogenesis type 2 Achondrogenesis type 2 Orphanet:93296 Achondrogenesis type 2 Orphanet:93296 achondrogenesis type 2 Orphanet:93296 -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis OMIM:200610 hypochondrogenesis Orphanet:93297 -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis NCIT:C3816 hypochondrogenesis Orphanet:93297 -MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym AE ae AE Orphanet:622014 Autoimmune encephalitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005723 AE Orphanet:622014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis, Rodríguez type acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Rodríguez type Orphanet:1788 Acrofacial dysostosis, Rodríguez type Orphanet:1788 acrofacial dysostosis, Rodríguez type Orphanet:1788 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated ACTH deficiency congenital isolated ACTH deficiency Congenital isolated ACTH deficiency Orphanet:199296 Congenital isolated ACTH deficiency Orphanet:199296 congenital isolated ACTH deficiency Orphanet:199296 -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym IAD Orphanet:480512 Idiopathic ductopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201400 IAD Orphanet:480512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency OMIM:201450 Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Orphanet:42 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acads deficiency Acads deficiency ACADS deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 Acads deficiency Orphanet:26792 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scad deficiency Scad deficiency SCAD deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 Scad deficiency Orphanet:26792 @@ -323,9 +237,7 @@ MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRel MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym digital extensor muscle aplasia-polyneuropathy digital extensor muscle aplasia-polyneuropathy Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 digital extensor muscle aplasia-polyneuropathy Orphanet:2926 MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym XK aprosencephaly syndrome Orphanet:3469 XK aprosencephaly syndrome Orphanet:3469 XK aprosencephaly syndrome Orphanet:3469 MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym Xk syndrome Xk syndrome XK syndrome Orphanet:3469 XK aprosencephaly syndrome OMIM:207770 Xk syndrome Orphanet:3469 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly Orphanet:566852 Atelencephaly Orphanet:3469 atelencephaly Orphanet:566852 MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome Illum syndrome Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome OMIM:208155 ILLUM syndrome Orphanet:1150 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly-arthropathy-coxa-vara-pericarditis syndrome camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome GARD:0000306 camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 MONDO:0008832 right atrial isomerism oio:hasExactSynonym oio:hasRelatedSynonym RAI Orphanet:97548 Right sided atrial isomerism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:208530 RAI Orphanet:97548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -338,7 +250,6 @@ MONDO:0008867 biliary atresia oio:hasExactSynonym oio:hasRelatedSynonym isolated MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 Bird-headed dwarfism, Montreal type Orphanet:2617 MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym microcephalic primordial dwarfism, Montreal type microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 microcephalic primordial dwarfism, Montreal type Orphanet:2617 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease Orphanet:36258 Buerger disease OMIM:211480 BUERGER disease Orphanet:36258 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Orphanet:172 Progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis Orphanet:172 MONDO:0008896 campomelia, Cumming type oio:hasExactSynonym oio:hasRelatedSynonym Cumming syndrome Orphanet:1318 Campomelia, Cumming type OMIM:211890 Cumming syndrome Orphanet:1318 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency Orphanet:159 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cact deficiency Cact deficiency CACT deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 Cact deficiency Orphanet:159 @@ -353,22 +264,17 @@ MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability s MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital chloride diarrhea congenital chloride diarrhea Congenital chloride diarrhea Orphanet:53689 Congenital chloride diarrhea Orphanet:53689 congenital chloride diarrhea Orphanet:53689 MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-lymphedema syndrome Orphanet:1414 Cholestasis-lymphedema syndrome OMIM:214900 cholestasis-lymphedema syndrome Orphanet:1414 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency Orphanet:79095 Congenital bile acid synthesis defect type 4 Orphanet:79095 AMACR deficiency Orphanet:79095 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia Orphanet:187 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia Orphanet:187 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym congenital hereditary endothelial dystrophy type II congenital hereditary endothelial dystrophy type II Congenital hereditary endothelial dystrophy type II Orphanet:293603 Congenital hereditary endothelial dystrophy type II Orphanet:293603 congenital hereditary endothelial dystrophy type II Orphanet:293603 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess Orphanet:320 Apparent mineralocorticoid excess OMIM:218030 apparent mineralocorticoid EXCESS Orphanet:320 -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD Orphanet:505652 CDKL5-deficiency disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD Orphanet:505652 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome Orphanet:1777 Temtamy syndrome OMIM:218340 TEMTAMY syndrome Orphanet:1777 MONDO:0009034 craniofacial dyssynostosis oio:hasExactSynonym oio:hasRelatedSynonym bilateral lambdoid and sagittal synostosis bilateral lambdoid and sagittal synostosis Bilateral lambdoid and sagittal synostosis Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis OMIM:218350 bilateral lambdoid and sagittal synostosis Orphanet:1516 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome Orphanet:1225 Baller-Gerold syndrome OMIM:218600 BALLER-Gerold syndrome Orphanet:1225 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Orphanet:96253 Cushing disease GARD:0012867 Cushing disease Orphanet:96253 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasBroadSynonym P5CS deficiency Orphanet:35664 ALDH18A1-related De Barsy syndrome Orphanet:35664 P5CS deficiency Orphanet:35664 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A Orphanet:357058 Autosomal recessive cutis laxa type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical ARCL2A Orphanet:357058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2 Arcl2 ARCL2 Orphanet:90350 Autosomal recessive cutis laxa type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200 ARCL2 Orphanet:90350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency Orphanet:254905 Isolated cytochrome C oxidase deficiency Orphanet:254905 isolated cytochrome C oxidase deficiency Orphanet:254905 MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Dandy-Walker malformation isolated Dandy-Walker malformation Isolated Dandy-Walker malformation Orphanet:217 Isolated Dandy-Walker malformation Orphanet:217 isolated Dandy-Walker malformation Orphanet:217 MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym split hand-split foot-deafness syndrome split hand-split foot-deafness syndrome Split hand-split foot-deafness syndrome Orphanet:71271 Split hand-split foot-deafness syndrome Orphanet:71271 split hand-split foot-deafness syndrome Orphanet:71271 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 -MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD Orphanet:1653 Dentin dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 DD Orphanet:1653 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym diastrophic dwarfism diastrophic dwarfism Diastrophic dwarfism Orphanet:628 Diastrophic dysplasia Orphanet:628 diastrophic dwarfism Orphanet:628 MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance Lysinuric protein intolerance Orphanet:470 Lysinuric protein intolerance OMIM:222700 lysinuric PROTEIN intolerance Orphanet:470 MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect Glutamate-aspartate transport defect Orphanet:2195 Dicarboxylic aminoaciduria OMIM:222730 glutamate-aspartate Transport defect Orphanet:2195 @@ -392,10 +298,7 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6B Orphanet:90354 Brittle cornea syndrome Ehlers-Danlos syndrome type 6b Orphanet:90354 MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK deficiency Orphanet:79237 Galactokinase deficiency OMIM:230200 Galk deficiency Orphanet:79237 MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency Orphanet:79238 Galactose epimerase deficiency OMIM:230350 Gale deficiency Orphanet:79238 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia OMIM:230400 galactosemia Orphanet:352 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency Orphanet:79239 Classic galactosemia OMIM:230400 Galt deficiency Orphanet:79239 -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 Beta-galactosidase-1 deficiency Orphanet:354 -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency GLB1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 Glb1 deficiency Orphanet:354 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 1 Orphanet:77259 Gaucher disease type 1 Orphanet:77259 Gaucher disease type 1 Orphanet:77259 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 2 Orphanet:77260 Gaucher disease type 2 Orphanet:77260 Gaucher disease type 2 Orphanet:77260 MONDO:0009267 Gaucher disease type III oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 3 Orphanet:77261 Gaucher disease type 3 Orphanet:77261 Gaucher disease type 3 Orphanet:77261 @@ -403,10 +306,7 @@ MONDO:0009270 genito-palato-cardiac syndrome oio:hasExactSynonym oio:hasRelatedS MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia Orphanet:1802 Ghosal hematodiaphyseal dysplasia OMIM:231095 GHOSAL hematodiaphyseal dysplasia Orphanet:1802 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos buphthalmos Buphthalmos Orphanet:98976 Congenital glaucoma DOID:11211, OMIM:231300 buphthalmos Orphanet:98976 MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym triple A syndrome triple A syndrome Triple A syndrome Orphanet:869 Triple A syndrome GARD:0000457 triple A syndrome Orphanet:869 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006523 EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym glutaryl-Coa oxidase deficiency glutaryl-Coa oxidase deficiency Glutaryl-CoA oxidase deficiency Orphanet:35706 Glutaric acidemia type 3 OMIM:231690 glutaryl-Coa oxidase deficiency Orphanet:35706 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 Von Gierke disease Orphanet:364 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis hepatorenal glycogenosis Hepatorenal glycogenosis Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 hepatorenal glycogenosis Orphanet:364 MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to acid maltase deficiency glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency Orphanet:365 Glycogen storage disease due to acid maltase deficiency Orphanet:365 glycogen storage disease due to acid maltase deficiency Orphanet:365 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym Gde deficiency Gde deficiency GDE deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency OMIM:232400 Gde deficiency Orphanet:366 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to glycogen debranching enzyme deficiency glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 @@ -431,52 +331,35 @@ MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease Van Buchem disease Orphanet:3416 Hyperostosis corticalis generalisata OMIM:239100 VAN Buchem disease Orphanet:3416 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type oio:hasExactSynonym oio:hasRelatedSynonym hypertrichotic osteochondrodysplasia hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia Orphanet:1517 Cantú syndrome GARD:0008585, OMIM:239850 hypertrichotic osteochondrodysplasia Orphanet:1517 MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym autoimmune polyendocrinopathy type 1 autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Orphanet:3453 Autoimmune polyendocrinopathy type 1 Orphanet:3453 autoimmune polyendocrinopathy type 1 Orphanet:3453 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:243000, MONDO:Lexical CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia OMIM:243150, Orphanet:2300 familial intestinal polyatresia syndrome Orphanet:2300 -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 CID-MIA/early-onset IBD Orphanet:436252 -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 combined immunodeficiency-enteropathy spectrum Orphanet:436252 MONDO:0009473 isotretinoin-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym microtia-aortic Arch syndrome microtia-aortic Arch syndrome Microtia-aortic arch syndrome Orphanet:2306 Isotretinoin-like syndrome OMIM:243440 microtia-aortic Arch syndrome Orphanet:2306 MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency Isovaleric acid CoA dehydrogenase deficiency Orphanet:33 Isovaleric acidemia OMIM:243500 isovaleric acid Coa dehydrogenase deficiency Orphanet:33 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome Orphanet:2315 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome Orphanet:2315 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym Papillon-LEFèvre syndrome Papillon-LEFèvre syndrome Papillon-Lefèvre syndrome Orphanet:678 Papillon-Lefèvre syndrome Orphanet:678 Papillon-LEFèvre syndrome Orphanet:678 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym oio:hasRelatedSynonym HAIM-Munk syndrome HAIM-Munk syndrome Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome OMIM:245010 HAIM-Munk syndrome Orphanet:2342 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scot deficiency Scot deficiency SCOT deficiency Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency OMIM:245050 Scot deficiency Orphanet:832 -MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym ataxia-deafness-intellectual disability syndrome ataxia-deafness-intellectual disability syndrome Ataxia-deafness-intellectual disability syndrome Orphanet:1188 Ataxia-deafness-intellectual disability syndrome OMIM:245100 ataxia-deafness-intellectual disability syndrome Orphanet:1188 MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym RICHARDS-RUNDLE syndrome RICHARDS-RUNDLE syndrome Richards-Rundle syndrome Orphanet:1399 Richards-Rundle syndrome OMIM:245100 RICHARDS-RUNDLE syndrome Orphanet:1399 MONDO:0009495 Keutel syndrome oio:hasExactSynonym oio:hasRelatedSynonym KEUTEL syndrome KEUTEL syndrome Keutel syndrome Orphanet:85202 Keutel syndrome OMIM:245150 KEUTEL syndrome Orphanet:85202 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E3-binding PROTEIN deficiency pyruvate dehydrogenase E3-binding PROTEIN deficiency Pyruvate dehydrogenase E3-binding protein deficiency Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency OMIM:245349 pyruvate dehydrogenase E3-binding PROTEIN deficiency Orphanet:255182 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile lactic acidosis with methylmalonic aciduria fatal infantile lactic acidosis with methylmalonic aciduria Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes benign epilepsy of childhood with centrotemporal spikes Benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 Rolandic epilepsy OMIM:245570 benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome OMIM:245800 Laurence-MOON syndrome Orphanet:2377 -MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym LCAT deficiency Orphanet:650 LCAT deficiency OMIM:245900 LCAT deficiency Orphanet:650 MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym familial LCAT deficiency familial LCAT deficiency Familial LCAT deficiency Orphanet:79293 Familial LCAT deficiency Orphanet:79293 familial LCAT deficiency Orphanet:79293 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency Orphanet:20 3-hydroxy-3-methylglutaric aciduria OMIM:246450 HMG-Coa lyase deficiency Orphanet:20 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym distal limb deficiencies-micrognathia syndrome distal limb deficiencies-micrognathia syndrome Distal limb deficiencies-micrognathia syndrome Orphanet:1307 Distal limb deficiencies-micrognathia syndrome Orphanet:1307 distal limb deficiencies-micrognathia syndrome Orphanet:1307 MONDO:0009529 pyruvate dehydrogenase E3 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dld deficiency Dld deficiency DLD deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency OMIM:246900 Dld deficiency Orphanet:2394 MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae Orphanet:530 Lipoid proteinosis OMIM:247100 hyalinosis cutis Et mucosae Orphanet:530 -MONDO:0009549 severe early-childhood-onset retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym fundus flavimaculatus fundus flavimaculatus Fundus flavimaculatus Orphanet:827 Stargardt disease OMIM:248200 fundus flavimaculatus Orphanet:827 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda Orphanet:87503 Mal de Meleda OMIM:248300 MAL DE Meleda Orphanet:87503 MONDO:0009556 malonic aciduria oio:hasExactSynonym oio:hasRelatedSynonym malonic acidemia malonic acidemia Malonic acidemia Orphanet:943 Malonic aciduria GARD:0003371 malonic acidemia Orphanet:943 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia Orphanet:2457 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia Orphanet:2457 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 MANDIBULOACRAL dysplasia with type A lipodystrophy Orphanet:90153 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MADA Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248370, MONDO:Lexical MADA Orphanet:90153 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009560 oculotrichoanal syndrome oio:hasExactSynonym oio:hasRelatedSynonym MANITOBA oculotrichoanal syndrome MANITOBA oculotrichoanal syndrome Manitoba oculotrichoanal syndrome Orphanet:2717 Oculotrichoanal syndrome MONDO:Lexical, OMIM:248450 MANITOBA oculotrichoanal syndrome Orphanet:2717 MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency Orphanet:61 Alpha-mannosidosis OMIM:248500 lysosomal Alpha-D-mannosidase deficiency Orphanet:61 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency DOID:9269, OMIM:246900 dihydrolipoamide dehydrogenase deficiency Orphanet:2394 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome Marden-Walker syndrome Orphanet:2461 Marden-Walker syndrome OMIM:248700 MARDEN-WALKER syndrome Orphanet:2461 MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marinesco-Sjögren syndrome Orphanet:559 Marinesco-Sjögren syndrome Orphanet:559 Marinesco-Sjögren syndrome Orphanet:559 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym oio:hasRelatedSynonym FRANK-TER Haar syndrome FRANK-TER Haar syndrome Frank-Ter Haar syndrome Orphanet:137834 Frank-Ter Haar syndrome OMIM:249420 FRANK-TER Haar syndrome Orphanet:137834 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria Orphanet:1035, GARD:0000654 Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym MCDU Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:249650 MCDU Orphanet:1035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym arylsulfatase A deficiency arylsulfatase A deficiency Arylsulfatase A deficiency Orphanet:512 Metachromatic leukodystrophy GARD:0003230, OMIM:250100 arylsulfatase A deficiency Orphanet:512 -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym metachromatic leukodystrophy metachromatic leukodystrophy Metachromatic leukodystrophy Orphanet:512 Metachromatic leukodystrophy OMIM:250100 metachromatic leukodystrophy Orphanet:512 -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Mld MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:250100 MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003230, OMIM:250100 MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009595 cartilage-hair hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia, Mckusick type metaphyseal chondrodysplasia, Mckusick type Metaphyseal chondrodysplasia, McKusick type Orphanet:175 Cartilage-hair hypoplasia OMIM:250250 metaphyseal chondrodysplasia, Mckusick type Orphanet:175 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly-short stature-retinitis pigmentosa syndrome brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym valine metabolic defect valine metabolic defect Valine metabolic defect Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620, Orphanet:88639 valine metabolic defect Orphanet:88639 @@ -491,10 +374,8 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym oio:hasRelatedSynonym co MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 MONDO:0009642 orofaciodigital syndrome type II oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 2 orofaciodigital syndrome type 2 Orofaciodigital syndrome type 2 Orphanet:2751 Orofaciodigital syndrome type 2 Orphanet:2751 orofaciodigital syndrome type 2 Orphanet:2751 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym Arsb deficiency Arsb deficiency ARSB deficiency Orphanet:583 Mucopolysaccharidosis type 6 OMIM:253200 Arsb deficiency Orphanet:583 -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency NCIT:C98842 multiple carboxylase deficiency Orphanet:148 MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile spinal muscular atrophy infantile spinal muscular atrophy Infantile spinal muscular atrophy Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 infantile spinal muscular atrophy Orphanet:83330 MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 1 proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 1 Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 proximal spinal muscular atrophy type 1 Orphanet:83330 -MONDO:0009670 lethal congenital contracture syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LCCS Lccs LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253310 LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile spinal muscular atrophy Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 juvenile spinal muscular atrophy Orphanet:83419 MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 3 proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 3 Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 proximal spinal muscular atrophy type 3 Orphanet:83419 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 2 proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 2 Orphanet:83418 Proximal spinal muscular atrophy type 2 Orphanet:83418 proximal spinal muscular atrophy type 2 Orphanet:83418 @@ -502,22 +383,14 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2H limb-girdle muscular dystrophy type 2H Limb-girdle muscular dystrophy type 2H Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 GARD:0003844 limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:0009691 mycosis fungoides oio:hasExactSynonym oio:hasRelatedSynonym classic mycosis fungoides classic mycosis fungoides Classic mycosis fungoides Orphanet:2584 Classic mycosis fungoides Orphanet:2584 classic mycosis fungoides Orphanet:2584 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia Orphanet:824 Primary myelofibrosis OMIM:254450, Orphanet:824 myelofibrosis with myeloid metaplasia Orphanet:824 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis Orphanet:85443 AL amyloidosis OMIM:254500 Al amyloidosis Orphanet:85443 MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym EPM2 Epm2 EPM2 Orphanet:501 Lafora disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254780 EPM2 Orphanet:501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym ULD Uld ULD Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254800 ULD Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym EPM1 Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003876 EPM1 Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy Orphanet:98261 Progressive myoclonic epilepsy OMIM:254800 progressive myoclonic epilepsy Orphanet:98261 MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB Orphanet:636970 Autosomal recessive myosin storage myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 MSMB Orphanet:636970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym NAM Orphanet:206569 Immune-mediated necrotizing myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:255995, MONDO:Lexical NAM Orphanet:206569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym De la Chapelle dysplasia Orphanet:56304 Atelosteogenesis type II Orphanet:56304 De la Chapelle dysplasia Orphanet:56304 -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Orphanet:2671 Neu-Laxova syndrome OMIM:256520 Neu-Laxova syndrome Orphanet:2671 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis Orphanet:309279 Glycoproteinosis DOID:3343 glycoproteinosis Orphanet:309279 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis Orphanet:309294 Sialidosis DOID:3343 sialidosis Orphanet:309294 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis Orphanet:812 Sialidosis type 1 OMIM:256550 lipomucopolysaccharidosis Orphanet:812 MONDO:0009745 neuronal ceroid lipofuscinosis 5 oio:hasExactSynonym oio:hasRelatedSynonym CLN5 disease Orphanet:228360 CLN5 disease Orphanet:228360 CLN5 disease Orphanet:228360 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 CIPA Orphanet:642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome Orphanet:2715 Severe oculo-renal-cerebellar syndrome OMIM:257970 ORC syndrome Orphanet:2715 -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia ectodermal dysplasia Ectodermal dysplasia Orphanet:79373 Ectodermal dysplasia syndrome OMIM:257980 ectodermal dysplasia Orphanet:79373 MONDO:0009774 cloacal exstrophy oio:hasExactSynonym oio:hasRelatedSynonym OEIS complex Orphanet:93929 Cloacal exstrophy Orphanet:93929, OMIM:258040 OEIS complex Orphanet:93929 MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia Orphanet:2746 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 OPSISMODYSPLASIA Orphanet:2746 MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome with retinal abnormalities oral-Facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with retinal abnormalities Orphanet:141007 Orofaciodigital syndrome type 9 OMIM:258865 oral-Facial-digital syndrome with retinal abnormalities Orphanet:141007 @@ -525,14 +398,11 @@ MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym gyrate atrophy of choroid and retina gyrate atrophy of choroid and retina Gyrate atrophy of choroid and retina Orphanet:414 Gyrate atrophy of choroid and retina MONDO:Lexical, OMIM:258870 gyrate atrophy of choroid and retina Orphanet:414 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria Orphanet:30 Hereditary orotic aciduria Orphanet:30 hereditary orotic aciduria Orphanet:30 MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Orphanet:324964 -MONDO:0009821 lethal osteosclerotic bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym RNS Orphanet:71273 Renal nutcracker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:259775 RNS Orphanet:71273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis GARD:0007708 Dawson encephalitis Orphanet:2806 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis Orphanet:2806 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma Orphanet:251899 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma Orphanet:251899 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of choroid plexus Orphanet:2807 Papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus Orphanet:2807 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009838 Parana hard-skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parana hard skin syndrome Orphanet:2812 Parana hard skin syndrome Orphanet:2812 Parana hard skin syndrome Orphanet:2812 -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome peho-like syndrome PEHO-like syndrome Orphanet:99807 PEHO-like syndrome OMIM:260565 peho-like syndrome Orphanet:99807 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome Cousin syndrome Orphanet:93333 Pelviscapular dysplasia OMIM:260660 COUSIN syndrome Orphanet:93333 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency intrinsic factor deficiency Intrinsic factor deficiency Orphanet:332 Congenital intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 intrinsic factor deficiency Orphanet:332 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym bifunctional enzyme deficiency bifunctional enzyme deficiency Bifunctional enzyme deficiency Orphanet:300 Bifunctional enzyme deficiency GARD:0004539 bifunctional enzyme deficiency Orphanet:300 @@ -543,11 +413,6 @@ MONDO:0009867 lethal congenital glycogen storage disease of heart oio:hasExactSy MONDO:0009868 glycogen storage disease IXb oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to liver and muscle phosphorylase kinase deficiency glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Pierre Robin syndrome isolated Pierre Robin syndrome Isolated Pierre Robin syndrome Orphanet:718 Isolated Pierre Robin syndrome Orphanet:718 isolated Pierre Robin syndrome Orphanet:718 MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJörnstad syndrome BJörnstad syndrome Björnstad syndrome Orphanet:123 Björnstad syndrome Orphanet:123 BJörnstad syndrome Orphanet:123 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD congenital IGHD Congenital IGHD Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital IGHD Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency congenital isolated GH deficiency Congenital isolated GH deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital isolated GH deficiency Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency congenital isolated growth hormone deficiency Congenital isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital isolated growth hormone deficiency Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency non-acquired isolated growth hormone deficiency Non-acquired isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 non-acquired isolated growth hormone deficiency Orphanet:631 -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth hormone insensitivity syndrome Orphanet:181393 Growth hormone insensitivity syndrome OMIM:262500 growth hormone insensitivity syndrome Orphanet:181393 MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome Orphanet:629 Short stature due to growth hormone qualitative anomaly OMIM:262650 KOWARSKI syndrome Orphanet:629 MONDO:0009883 alpha-2-plasmin inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital alpha2-antiplasmin deficiency congenital alpha2-antiplasmin deficiency Congenital alpha2-antiplasmin deficiency Orphanet:79 Congenital alpha2-antiplasmin deficiency Orphanet:79 congenital alpha2-antiplasmin deficiency Orphanet:79 MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym Chuvash erythrocytosis Orphanet:238557 Chuvash erythrocytosis Orphanet:238557 Chuvash erythrocytosis Orphanet:238557 @@ -555,46 +420,33 @@ MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym cong MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pterin-4 alpha-carbinolamine dehydratase deficiency pterin-4 alpha-carbinolamine dehydratase deficiency Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum Orphanet:758 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum Orphanet:758 -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome Orphanet:294060 Multiple pterygium syndrome OMIM:265000, GARD:0007111 multiple pterygium syndrome Orphanet:294060 MONDO:0009936 familial primary pulmonary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym primary pulmonary hypoplasia primary pulmonary hypoplasia Primary pulmonary hypoplasia Orphanet:2257 Primary pulmonary hypoplasia Orphanet:2257 primary pulmonary hypoplasia Orphanet:2257 MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Umph1 deficiency Umph1 deficiency UMPH1 deficiency Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency OMIM:266120 Umph1 deficiency Orphanet:35120 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione synthetase deficiency Orphanet:32 Glutathione synthetase deficiency OMIM:266130, MONDO:Lexical glutathione synthetase deficiency Orphanet:32 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency Orphanet:3008 Pyruvate carboxylase deficiency OMIM:266150 pyruvate carboxylase deficiency Orphanet:3008 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym primitive renal tubule syndrome primitive renal tubule syndrome Primitive renal tubule syndrome Orphanet:3033 Renal tubular dysgenesis OMIM:267430 primitive renal tubule syndrome Orphanet:3033 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis Orphanet:3033 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 renal tubular dysgenesis Orphanet:3033 MONDO:0009971 respiratory distress syndrome in premature infants oio:hasExactSynonym oio:hasRelatedSynonym hyaline Membrane disease hyaline Membrane disease Hyaline membrane disease Orphanet:70587 Infant acute respiratory distress syndrome OMIM:267450 hyaline Membrane disease Orphanet:70587 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym Covesdem syndrome Covesdem syndrome COVESDEM syndrome Orphanet:1507 Autosomal recessive Robinow syndrome OMIM:268310 Covesdem syndrome Orphanet:1507 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency sarcosine dehydrogenase complex deficiency Sarcosine dehydrogenase complex deficiency Orphanet:3129 Sarcosinemia OMIM:268900, Orphanet:3129 sarcosine dehydrogenase complex deficiency Orphanet:3129 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym congenital cataract microcornea with corneal opacity congenital cataract microcornea with corneal opacity Congenital cataract microcornea with corneal opacity Orphanet:289499 Congenital cataract microcornea with corneal opacity Orphanet:289499 congenital cataract microcornea with corneal opacity Orphanet:289499 MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis sea-blue histiocytosis Sea-blue histiocytosis Orphanet:158029 Sea-blue histiocytosis OMIM:269600 sea-blue histiocytosis Orphanet:158029 MONDO:0010024 Beemer-Langer syndrome oio:hasExactSynonym oio:hasRelatedSynonym short rib-polydactyly syndrome, Beemer-Langer type short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus situs ambiguus Situs ambiguus Orphanet:157769 Situs ambiguus NCIT:C87121 situs ambiguus Orphanet:157769 MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary Sjögren syndrome primary Sjögren syndrome Primary Sjögren syndrome Orphanet:289390 Primary Sjögren syndrome Orphanet:289390 primary Sjögren syndrome Orphanet:289390 MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjögren-Larsson syndrome Orphanet:816 Sjögren-Larsson syndrome GARD:0007654 Sjögren-Larsson syndrome Orphanet:816 -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 1 peeling skin syndrome 1 Peeling skin syndrome 1 Orphanet:263553 Peeling skin syndrome type B MONDO:Lexical, OMIM:270300 peeling skin syndrome 1 Orphanet:263553 -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300, MONDO:Lexical PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010041 Charlevoix-Saguenay spastic ataxia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay OMIM:270550 autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 23 autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 autosomal recessive spastic paraplegia type 23 Orphanet:101003 MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 4 proximal spinal muscular atrophy type 4 Proximal spinal muscular atrophy type 4 Orphanet:83420 Proximal spinal muscular atrophy type 4 Orphanet:83420 proximal spinal muscular atrophy type 4 Orphanet:83420 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia SPONASTRIME dysplasia Orphanet:93357 SPONASTRIME dysplasia OMIM:271510 Sponastrime dysplasia Orphanet:93357 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Acy2 deficiency Acy2 deficiency ACY2 deficiency Orphanet:141 Canavan disease OMIM:271900 Acy2 deficiency Orphanet:141 -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis Orphanet:1576 Infantile bilateral striatal necrosis OMIM:271930 infantile bilateral striatal necrosis Orphanet:1576 MONDO:0010083 succinic semialdehyde dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Ssadh deficiency Ssadh deficiency SSADH deficiency Orphanet:22 Succinic semialdehyde dehydrogenase deficiency OMIM:271980 Ssadh deficiency Orphanet:22 MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency Orphanet:585 Multiple sulfatase deficiency MONDO:Lexical, OMIM:272200 multiple sulfatase deficiency Orphanet:585 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome Orphanet:3255 Filippi syndrome OMIM:272440 FILIPPI syndrome Orphanet:3255 MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, AB variant Orphanet:309246 GM2 gangliosidosis, AB variant Orphanet:309246 GM2 gangliosidosis, AB variant Orphanet:309246 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease Orphanet:845 Tay-Sachs disease OMIM:272800 TAY-Sachs disease Orphanet:845 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor Orphanet:876 Yolk sac tumor OMIM:273300 endodermal sinus tumor Orphanet:876 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma Orphanet:99865 Spermatocytic seminoma OMIM:273300 spermatocytic seminoma Orphanet:99865 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR syndrome Orphanet:3320 Thrombocytopenia-absent radius syndrome OMIM:274000 Tar syndrome Orphanet:3320 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010148 Mounier-Kuhn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mounier-Kühn syndrome Orphanet:3347 Mounier-Kühn syndrome Orphanet:3347 Mounier-Kühn syndrome Orphanet:3347 MONDO:0010149 transcobalamin II deficiency oio:hasExactSynonym oio:hasRelatedSynonym transcobalamin deficiency transcobalamin deficiency Transcobalamin deficiency Orphanet:859 Transcobalamin deficiency Orphanet:859 transcobalamin deficiency Orphanet:859 -MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:275630 CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym Dorfman-Chanarin syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 Dorfman-Chanarin syndrome Orphanet:98907 MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym neutral Lipid storage disease with ichthyosis neutral Lipid storage disease with ichthyosis Neutral lipid storage disease with ichthyosis Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 neutral Lipid storage disease with ichthyosis Orphanet:98907 MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym DCS DCs DCS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003979 DCS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -604,8 +456,6 @@ MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Fah d MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 1 tyrosinemia type 1 Tyrosinemia type 1 Orphanet:882 Tyrosinemia type 1 GARD:0002658 tyrosinemia type 1 Orphanet:882 MONDO:0010162 tyrosinemia type III oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 3 tyrosinemia type 3 Tyrosinemia type 3 Orphanet:69723 Tyrosinemia type 3 GARD:0010332 tyrosinemia type 3 Orphanet:69723 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100, OMIM:277000 MRKH syndrome Orphanet:3109 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100 Rokitansky syndrome Orphanet:3109 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 Váradi syndrome Orphanet:2754 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi-Papp syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 Váradi-Papp syndrome Orphanet:2754 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic acidemia with homocystinuria type cblF methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 @@ -622,25 +472,17 @@ MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthin MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidoreductase deficiency xanthine oxidoreductase deficiency Xanthine oxidoreductase deficiency Orphanet:93601 Xanthinuria type I Orphanet:93601 xanthine oxidoreductase deficiency Orphanet:93601 MONDO:0010214 xeroderma pigmentosum variant type oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum variant xeroderma pigmentosum variant Xeroderma pigmentosum variant Orphanet:90342 Xeroderma pigmentosum variant Orphanet:90342 xeroderma pigmentosum variant Orphanet:90342 MONDO:0010220 Young syndrome oio:hasExactSynonym oio:hasRelatedSynonym sinusitis-infertility syndrome sinusitis-infertility syndrome Sinusitis-infertility syndrome Orphanet:3471 Young syndrome OMIM:279000 sinusitis-infertility syndrome Orphanet:3471 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy Orphanet:139399 Adrenomyeloneuropathy OMIM:300100 adrenomyeloneuropathy Orphanet:139399 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym ALD Orphanet:43 X-linked adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300100, MONDO:Lexical ALD Orphanet:43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 ATS-MR Orphanet:86818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC Orphanet:2131 Alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC Orphanet:2131 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym X-linked AHC Orphanet:95702 X-linked adrenal hypoplasia congenita GARD:0000555 X-linked AHC Orphanet:95702 MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shashi type Orphanet:85286 X-linked intellectual disability, Shashi type Orphanet:85286 X-linked intellectual disability, Shashi type Orphanet:85286 MONDO:0010281 Danon disease oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to LAMP-2 deficiency glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 Danon disease Orphanet:34587 glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 duplication syndrome Orphanet:1762 Proximal Xq28 duplication syndrome OMIM:300260 MECP2 Duplication syndrome Orphanet:1762 MONDO:0010285 syndromic X-linked intellectual disability Abidi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Abidi type Orphanet:85273 X-linked intellectual disability, Abidi type Orphanet:85273 X-linked intellectual disability, Abidi type Orphanet:85273 MONDO:0010286 syndromic X-linked intellectual disability Siderius type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Siderius type Orphanet:85287 X-linked intellectual disability, Siderius type Orphanet:85287 X-linked intellectual disability, Siderius type Orphanet:85287 -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym HPRT deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 HPRT deficiency Orphanet:206428 -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 Hprt1 deficiency Orphanet:206428 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency OMIM:300323 KELLEY-Seegmiller syndrome Orphanet:79233 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency Orphanet:52503 X-linked creatine transporter deficiency Orphanet:52503 X-linked creatine transporter deficiency Orphanet:52503 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia striata-cranial sclerosis syndrome osteopathia striata-cranial sclerosis syndrome Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 osteopathia striata-cranial sclerosis syndrome Orphanet:2780 MONDO:0010319 syndromic X-linked intellectual disability Hedera type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Hedera type Orphanet:93952 X-linked intellectual disability, Hedera type Orphanet:93952 X-linked intellectual disability, Hedera type Orphanet:93952 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym HSD10 deficiency, atypical type Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 HSD10 deficiency, atypical type Orphanet:85295 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym syndromic X-linked intellectual disability type 10 syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 10 Orphanet:85295 HSD10 disease, atypical type MONDO:0010272, Orphanet:85295 syndromic X-linked intellectual disability type 10 Orphanet:85295 MONDO:0010336 orofaciodigital syndrome VIII oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 8 orofaciodigital syndrome type 8 Orofaciodigital syndrome type 8 Orphanet:2755 Orofaciodigital syndrome type 8 Orphanet:2755 orofaciodigital syndrome type 8 Orphanet:2755 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 oio:hasExactSynonym oio:hasRelatedSynonym DSMAX Dsmax DSMAX Orphanet:139557 X-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300489 DSMAX Orphanet:139557 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness-intellectual disability syndrome, Martin-Probst type deafness-intellectual disability syndrome, Martin-Probst type Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 @@ -653,14 +495,11 @@ MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSy MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym Star syndrome Star syndrome STAR syndrome Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM:300707 Star syndrome Orphanet:140952 MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shrimpton type Orphanet:85324 X-linked intellectual disability, Shrimpton type Orphanet:85324 X-linked intellectual disability, Shrimpton type Orphanet:85324 MONDO:0010417 syndromic X-linked intellectual disability Najm type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Najm type Orphanet:163937 X-linked intellectual disability, Najm type Orphanet:163937 X-linked intellectual disability, Najm type Orphanet:163937 -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease Orphanet:90001 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 BORNHOLM eye disease Orphanet:90001 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Nascimento type Orphanet:163956 X-linked intellectual disability, Nascimento type Orphanet:163956 X-linked intellectual disability, Nascimento type Orphanet:163956 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 MONDO:0010476 neurodegeneration with brain iron accumulation 5 oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy of childhood with neurodegeneration in adulthood static encephalopathy of childhood with neurodegeneration in adulthood Static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 Beta-propeller protein-associated neurodegeneration OMIM:300894 static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym CMT6X Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110207, Orphanet:352675 CMT6X Orphanet:352675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym XLSA-A Xlsa-A XLSA-A Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536358 XLSA-A Orphanet:2802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010529 X-linked spinocerebellar ataxia type 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAX3 Scax3 SCAX3 Orphanet:85297 X-linked spinocerebellar ataxia type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301790 SCAX3 Orphanet:85297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -668,26 +507,16 @@ MONDO:0010534 X-linked spinocerebellar ataxia type 4 oio:hasExactSynonym oio:has MONDO:0010537 Borjeson-Forssman-Lehmann syndrome oio:hasExactSynonym oio:hasRelatedSynonym Borjeson-FORSSMAN-Lehmann syndrome Borjeson-FORSSMAN-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome Orphanet:127 Borjeson-Forssman-Lehmann syndrome OMIM:301900 Borjeson-FORSSMAN-Lehmann syndrome Orphanet:127 MONDO:0010543 Barth syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARTH syndrome BARTH syndrome Barth syndrome Orphanet:111 Barth syndrome OMIM:302060 BARTH syndrome Orphanet:111 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 CMT1X Orphanet:101075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMT2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 CMT2 Orphanet:64746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMTX Orphanet:64747 X-linked Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 CMTX Orphanet:64747 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome Orphanet:275543 L1 syndrome DOID:0060246 CRASH syndrome Orphanet:275543 MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome Orphanet:192 Coffin-Lowry syndrome OMIM:303600 COFFIN-Lowry syndrome Orphanet:192 MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew Syndrome Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome MONDO:Lexical, OMIM:304340 PETTIGREW syndrome Orphanet:1568 -MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome Orphanet:85335 Fried syndrome DOID:0060800 fried syndrome Orphanet:85335 MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome Orphanet:52368 Mohr-Tranebjaerg syndrome OMIM:304700, MONDO:Lexical MOHR-Tranebjaerg syndrome Orphanet:52368 -MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTS Orphanet:675404 May-Thurner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304700, MONDO:Lexical MTS Orphanet:675404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome type 1 Orphanet:93932 FG syndrome type 1 Orphanet:93932 FG syndrome type 1 Orphanet:93932 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Orphanet:93932 FG syndrome type 1 MONDO:Lexical, OMIM:305450 Opitz-Kaveggia syndrome Orphanet:93932 -MONDO:0010604 hemophilia B oio:hasExactSynonym oio:hasRelatedSynonym hemophilia B Leyden hemophilia B Leyden Hemophilia B Leyden Orphanet:617930 Hemophilia B Leyden OMIM:306900 hemophilia B Leyden Orphanet:617930 -MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia hyperglycerolemia Hyperglycerolemia Orphanet:408 Isolated glycerol kinase deficiency OMIM:307030 hyperglycerolemia Orphanet:408 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia Orphanet:89936 X-linked hypophosphatemia DOID:0050445 X-linked hypophosphatemia Orphanet:89936 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets Orphanet:89936 X-linked hypophosphatemia Orphanet:89936 X-linked hypophosphatemic rickets Orphanet:89936 MONDO:0010621 CHILD syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 CHILD syndrome OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative disease Orphanet:2442 X-linked lymphoproliferative disease Orphanet:2442 X-linked lymphoproliferative disease Orphanet:2442 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2442 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym X-linked lymphoproliferative syndrome type 1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency DOID:0060705, MONDORULE:1 X-linked lymphoproliferative syndrome type 1 Orphanet:538931 -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis laryngeal abductor paralysis Laryngeal abductor paralysis Orphanet:2808 Laryngeal abductor paralysis OMIM:308850 laryngeal abductor paralysis Orphanet:2808 MONDO:0010650 Melnick-Needles syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELNICK-NEEDLES syndrome MELNICK-NEEDLES syndrome Melnick-Needles syndrome Orphanet:2484 Melnick-Needles syndrome OMIM:309350 MELNICK-NEEDLES syndrome Orphanet:2484 MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym oio:hasRelatedSynonym LUJAN-Fryns syndrome LUJAN-Fryns syndrome Lujan-Fryns syndrome Orphanet:776 Lujan-Fryns syndrome OMIM:309520 LUJAN-Fryns syndrome Orphanet:776 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym oio:hasRelatedSynonym severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 @@ -695,7 +524,6 @@ MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExac MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency Orphanet:642691 Fragile X-associated primary ovarian insufficiency GARD:0004480 fragile X-associated primary ovarian insufficiency Orphanet:642691 MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome MONDO:Lexical, OMIM:311510 WAISMAN syndrome Orphanet:2379 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency Orphanet:765 Pyruvate dehydrogenase deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency Orphanet:765 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 pyruvate decarboxylase deficiency Orphanet:79243 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency OMIM:312170 pyruvate dehydrogenase E1-ALPHA deficiency Orphanet:79243 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGBS Sgbs SGBS Orphanet:373 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312870 SGBS Orphanet:373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -705,17 +533,10 @@ MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss oio:hasExac MONDO:0010789 MELAS syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELAS Orphanet:550 MELAS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:540000 MELAS Orphanet:550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia Orphanet:466 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA Orphanet:466 MONDO:0010830 neuronal ceroid lipofuscinosis 8 oio:hasExactSynonym oio:hasRelatedSynonym CLN8 disease Orphanet:228354 CLN8 disease Orphanet:228354 CLN8 disease Orphanet:228354 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal dysgenesis syndrome caudal dysgenesis syndrome Caudal dysgenesis syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145, GARD:0004751 caudal dysgenesis syndrome Orphanet:3027 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal regression syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145 caudal regression syndrome Orphanet:3027 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia Orphanet:3169 Sirenomelia OMIM:600145 sirenomelia Orphanet:3169 MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSynonym oio:hasRelatedSynonym mucocutaneous venous malformations mucocutaneous venous malformations Mucocutaneous venous malformations Orphanet:2451 Mucocutaneous venous malformations Orphanet:2451 mucocutaneous venous malformations Orphanet:2451 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oio:hasExactSynonym oio:hasRelatedSynonym PKDTS Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600273 PKDTS Orphanet:88924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia Frontotemporal dementia Orphanet:282 Frontotemporal dementia MONDO:Lexical, OMIM:600274 frontotemporal dementia Orphanet:282 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym FTD Orphanet:282 Frontotemporal dementia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600274 FTD Orphanet:282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010907 familial hypertryptophanemia oio:hasExactSynonym oio:hasBroadSynonym hypertryptophanemia hypertryptophanemia Hypertryptophanemia Orphanet:2224 Hypertryptophanemia OMIM:600627, OMIM:genemap2 hypertryptophanemia Orphanet:2224 -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia Orphanet:93976 Anotia MESH:D065817 anotia Orphanet:93976 MONDO:0010932 progressive bifocal chorioretinal atrophy oio:hasExactSynonym oio:hasRelatedSynonym CRAPB Crapb CRAPB Orphanet:75373 Progressive bifocal chorioretinal atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600790 CRAPB Orphanet:75373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome OMIM:600920 VAN DEN Ende-Gupta syndrome Orphanet:2460 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1B achondrogenesis type 1B Achondrogenesis type 1B Orphanet:93298 Achondrogenesis type 1B Orphanet:93298 achondrogenesis type 1B Orphanet:93298 @@ -724,21 +545,17 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 MONDO:0010983 dystonia 9 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal dystonic choreathetosis with episodic ataxia and spasticity paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome Orphanet:240071 Steele-Richardson-Olszewski disease Orphanet:240071 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym spear syndrome spear syndrome Spear syndrome Orphanet:2470 Matthew-Wood syndrome OMIM:601186 spear syndrome Orphanet:2470 -MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB familial tumor and dysplasia syndrome Orphanet:284343 DICER1 tumor-predisposition syndrome OMIM:601200 PPB familial tumor and dysplasia syndrome Orphanet:284343 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome Proximal 11p deletion syndrome Orphanet:52022 Potocki-Shaffer syndrome OMIM:601224 proximal 11P deletion syndrome Orphanet:52022 -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, CAYMAN type cerebellar ataxia, CAYMAN type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type OMIM:601238 cerebellar ataxia, CAYMAN type Orphanet:94122 MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, Cayman type cerebellar ataxia, Cayman type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type MONDO:Lexical, OMIM:601238 cerebellar ataxia, Cayman type Orphanet:94122 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasBroadSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 DOID:0110280, Orphanet:219 delta-sarcoglycanopathy Orphanet:219 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2F limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2F Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 GARD:0008573 limb-girdle muscular dystrophy type 2F Orphanet:219 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome Orphanet:3051 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome Orphanet:3051 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS Orphanet:647 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS Orphanet:647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011065 Hunter-McAlpine craniosynostosis oio:hasExactSynonym oio:hasRelatedSynonym Hunter-McAlpine syndrome Orphanet:97340 Hunter-McAlpine syndrome GARD:0002754 Hunter-McAlpine syndrome Orphanet:97340 MONDO:0011073 diabetes mellitus, transient neonatal, 1 oio:hasExactSynonym oio:hasRelatedSynonym TNDM Tndm TNDM Orphanet:99886 Transient neonatal diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601410 TNDM Orphanet:99886 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011082 oculoauriculofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym OCULOAURICULOFRONTONASAL syndrome OCULOAURICULOFRONTONASAL syndrome Oculoauriculofrontonasal syndrome Orphanet:398156 Oculoauriculofrontonasal syndrome OMIM:601452 OCULOAURICULOFRONTONASAL syndrome Orphanet:398156 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency due to complete RAG1/2 deficiency severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency Orphanet:67041 Hyaluronidase deficiency OMIM:601492 hyaluronidase deficiency Orphanet:67041 -MONDO:0011099 human HOXA1 syndromes oio:hasExactSynonym oio:hasRelatedSynonym Bosley-Salih-Alorainy syndrome Orphanet:69737 Bosley-Salih-Alorainy syndrome OMIM:601536 Bosley-Salih-Alorainy syndrome Orphanet:69737 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis with juvenile macular degeneration hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular degeneration Orphanet:1573 Hypotrichosis with juvenile macular degeneration Orphanet:1573 hypotrichosis with juvenile macular degeneration Orphanet:1573 MONDO:0011109 multiple epiphyseal dysplasia, Lowry type oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia with ROBIN phenotype multiple epiphyseal dysplasia with ROBIN phenotype Multiple epiphyseal dysplasia with Robin phenotype Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type OMIM:601560 multiple epiphyseal dysplasia with ROBIN phenotype Orphanet:166016 MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oio:hasExactSynonym oio:hasRelatedSynonym SEMDAD Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601668 SEMDAD Orphanet:168451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -767,55 +584,37 @@ MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSy MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type oio:hasExactSynonym oio:hasRelatedSynonym blepharophimosis-intellectual disability syndrome, Verloes type blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type OMIM:604314 blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mcgrath syndrome Mcgrath syndrome McGrath syndrome Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome OMIM:604536 Mcgrath syndrome Orphanet:158668 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome Bohring-Opitz syndrome Orphanet:97297 Bohring-Opitz syndrome OMIM:605039 BOHRING-Opitz syndrome Orphanet:97297 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS Orphanet:2353 Schilbach-Rott syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 BRSS Orphanet:2353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011532 hereditary spastic paraplegia 13 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 13 autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 autosomal dominant spastic paraplegia type 13 Orphanet:100994 MONDO:0011533 temtamy preaxial brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY preaxial brachydactyly syndrome TEMTAMY preaxial brachydactyly syndrome Temtamy preaxial brachydactyly syndrome Orphanet:363417 Temtamy preaxial brachydactyly syndrome OMIM:605282 TEMTAMY preaxial brachydactyly syndrome Orphanet:363417 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MMDS1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605711 MMDS1 Orphanet:401869 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:hasRelatedSynonym inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym distal hereditary motor neuropathy, Jerash type distal hereditary motor neuropathy, Jerash type Distal hereditary motor neuropathy, Jerash type Orphanet:139552 Distal hereditary motor neuropathy, Jerash type Orphanet:139552 distal hereditary motor neuropathy, Jerash type Orphanet:139552 MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital onychodysplasia isolated congenital onychodysplasia Isolated congenital onychodysplasia Orphanet:79144 Isolated congenital onychodysplasia Orphanet:79144 isolated congenital onychodysplasia Orphanet:79144 -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM Orphanet:607 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 NM Orphanet:607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency DMGDH deficiency Orphanet:243343 Dimethylglycine dehydrogenase deficiency OMIM:605850 Dmgdh deficiency Orphanet:243343 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy Orphanet:407 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy Orphanet:407 MONDO:0011624 transaldolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Taldo deficiency Taldo deficiency TALDO deficiency Orphanet:101028 Transaldolase deficiency OMIM:606003 Taldo deficiency Orphanet:101028 MONDO:0011628 propionic acidemia oio:hasExactSynonym oio:hasRelatedSynonym propionyl-Coa carboxylase deficiency propionyl-Coa carboxylase deficiency Propionyl-CoA carboxylase deficiency Orphanet:35 Propionic acidemia OMIM:606054 propionyl-Coa carboxylase deficiency Orphanet:35 MONDO:0011640 genitopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym GENITOPATELLAR syndrome GENITOPATELLAR syndrome Genitopatellar syndrome Orphanet:85201 Genitopatellar syndrome OMIM:606170 GENITOPATELLAR syndrome Orphanet:85201 -MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 deletion syndrome Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion OMIM:606232 chromosome 22Q13.3 deletion syndrome Orphanet:662169 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma Orphanet:163699 Alveolar soft tissue sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma Orphanet:163699 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft tissue sarcoma alveolar soft tissue sarcoma Alveolar soft tissue sarcoma Orphanet:163699 Alveolar soft tissue sarcoma Orphanet:163699 alveolar soft tissue sarcoma Orphanet:163699 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant intermediate Charcot-Marie-Tooth disease type B autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Momes syndrome Momes syndrome MOMES syndrome Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome OMIM:606772 Momes syndrome Orphanet:397973 -MONDO:0011749 oculocutaneous albinism type 1B oio:hasExactSynonym oio:hasRelatedSynonym OCA1-TS Oca1-Ts OCA1-TS Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606952 OCA1-TS Orphanet:352737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis type Ih/S mucopolysaccharidosis type Ih/S Mucopolysaccharidosis type IH/S Orphanet:93476 Hurler-Scheie syndrome OMIM:607015 mucopolysaccharidosis type Ih/S Orphanet:93476 MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2I Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 GARD:0012533 limb-girdle muscular dystrophy type 2I Orphanet:34515 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with axonal neuropathy type 1 spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds cEDS Orphanet:287 Classical Ehlers-Danlos syndrome OMIM:607271 Ceds Orphanet:287 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia subcortical band heterotopia Subcortical band heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 subcortical band heterotopia Orphanet:99796 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia subcortical laminar heterotopia Subcortical laminar heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 subcortical laminar heterotopia Orphanet:99796 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with epilepsy spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with epilepsy Orphanet:254881 Spinocerebellar ataxia with epilepsy OMIM:607459 spinocerebellar ataxia with epilepsy Orphanet:254881 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym CDA Orphanet:85 Congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607541 CDA Orphanet:85 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nisch syndrome Nisch syndrome NISCH syndrome Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM:607626 Nisch syndrome Orphanet:59303 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHACS Chacs CHACS Orphanet:307766 Curly hair-acral keratoderma-caries syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607656 CHACS Orphanet:307766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hopp syndrome Hopp syndrome HOPP syndrome Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome OMIM:607658 Hopp syndrome Orphanet:307936 MONDO:0011886 torsion dystonia 13 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT13 type primary dystonia, DYT13 type Primary dystonia, DYT13 type Orphanet:98807 Primary dystonia, DYT13 type Orphanet:98807 primary dystonia, DYT13 type Orphanet:98807 MONDO:0011889 Charcot-Marie-Tooth disease type 2I oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2I autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 -MONDO:0011895 idiopathic hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym HES Orphanet:168956 Hypereosinophilic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607685, MONDO:Lexical HES Orphanet:168956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy dentoleukoencephalopathy Dentoleukoencephalopathy Orphanet:77295 Odontoleukodystrophy DOID:0060794 dentoleukoencephalopathy Orphanet:77295 MONDO:0011903 Charcot-Marie-Tooth disease type 2J oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2J autosomal dominant Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 -MONDO:0011904 seizures, benign familial infantile, 3 oio:hasExactSynonym oio:hasRelatedSynonym benign familial infantile convulsions benign familial infantile convulsions Benign familial infantile convulsions Orphanet:306 Benign familial infantile epilepsy GARD:0001518 benign familial infantile convulsions Orphanet:306 MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 Congenital bile acid synthesis defect type 1 OMIM:607765 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia NCIT:C9233 chronic myelomonocytic leukemia Orphanet:98823 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K oio:hasExactSynonym oio:hasRelatedSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607831 CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy type 1A congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1A Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy Orphanet:258 congenital muscular dystrophy type 1A Orphanet:258 -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND Orphanet:1827 Acromelic frontonasal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND Orphanet:1827 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011975 paternal uniparental disomy of chromosome 14 oio:hasExactSynonym oio:hasRelatedSynonym KAGAMI-Ogata syndrome KAGAMI-Ogata syndrome Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome OMIM:608149 KAGAMI-Ogata syndrome Orphanet:254519 MONDO:0011977 8q22.1 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym NABLUS mask-like facial syndrome NABLUS mask-like facial syndrome Nablus mask-like facial syndrome Orphanet:178303 8q22.1 microdeletion syndrome OMIM:608156, MONDO:Lexical NABLUS mask-like facial syndrome Orphanet:178303 MONDO:0011997 Hermansky-Pudlak syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Orphanet:183678 Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome spherophakia-brachymorphia syndrome Spherophakia-brachymorphia syndrome Orphanet:3449 Weill-Marchesani syndrome OMIM:608328 spherophakia-brachymorphia syndrome Orphanet:3449 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation Orphanet:137667 MONDO:0012020 chromosome 22q11.2 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym 22q11.2 duplication syndrome Orphanet:1727 22q11.2 duplication syndrome GARD:0010557 22q11.2 duplication syndrome Orphanet:1727 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1F limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1F Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 GARD:0012530 limb-girdle muscular dystrophy type 1F Orphanet:55595 @@ -826,17 +625,14 @@ MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym MONDO:0012089 ichthyosis prematurity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis-prematurity syndrome ichthyosis-prematurity syndrome Ichthyosis-prematurity syndrome Orphanet:88621 Ichthyosis-prematurity syndrome Orphanet:88621 ichthyosis-prematurity syndrome Orphanet:88621 MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym Atic deficiency Atic deficiency ATIC deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 Atic deficiency Orphanet:250977 -MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym oio:hasBroadSynonym ANCA-associated vasculitis Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis PMID:16887845, PMID:28148583 ANCA-associated vasculitis Orphanet:156152 MONDO:0012117 ALG9-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate deficient glycoprotein syndrome type IL carbohydrate deficient glycoprotein syndrome type IL Carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 ALG9-CDG GARD:0009839 carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym oio:hasRelatedSynonym DPM1-CDG Orphanet:79322 DPM1-CDG http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79322 DPM1-CDG Orphanet:79322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2J limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2J Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 GARD:0012534 limb-girdle muscular dystrophy type 2J Orphanet:140922 MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym alpha-B crystallin-related late-onset distal myopathy alpha-B crystallin-related late-onset distal myopathy Alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 Alpha-B crystallin-related late-onset myopathy Orphanet:399058 alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CARNEY complex variant CARNEY complex variant Carney complex variant Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome OMIM:608837 CARNEY complex variant Orphanet:319340 -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA Orphanet:54247 Posterior cortical atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA Orphanet:54247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies Bifid nose with or without anorectal and renal anomalies Orphanet:217266 BNAR syndrome MONDO:Lexical, OMIM:608980 bifid NOSE with or without anorectal and renal anomalies Orphanet:217266 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency Orphanet:746 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency Orphanet:746 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym PCARP Pcarp PCARP Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609033 PCARP Orphanet:88628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym PACA paca PACA Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609069, MONDO:Lexical PACA Orphanet:624268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1G limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 1G Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 GARD:0012531 limb-girdle muscular dystrophy type 1G Orphanet:55596 MONDO:0012198 PCWH syndrome oio:hasExactSynonym oio:hasRelatedSynonym peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 oio:hasExactSynonym oio:hasRelatedSynonym KANZAKI disease KANZAKI disease Kanzaki disease Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 OMIM:609242 KANZAKI disease Orphanet:79280 @@ -850,7 +646,6 @@ MONDO:0012289 myofibrillar myopathy 5 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed syndrome Orphanet:77297 Majeed syndrome OMIM:609628 MAJEED syndrome Orphanet:77297 MONDO:0012334 hereditary spastic paraplegia 29 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 29 autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 autosomal dominant spastic paraplegia type 29 Orphanet:101009 MONDO:0012345 acral peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 2 peeling skin syndrome 2 Peeling skin syndrome 2 Orphanet:263534 Acral peeling skin syndrome MONDO:Lexical, OMIM:609796 peeling skin syndrome 2 Orphanet:263534 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Orphanet:71212, MESH:C535310, OMIM:231530 SCHAD deficiency Orphanet:71212 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym short/branched-chain acyl-Coa dehydrogenase deficiency short/branched-chain acyl-Coa dehydrogenase deficiency Short/branched-chain acyl-coA dehydrogenase deficiency Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency OMIM:610006 short/branched-chain acyl-Coa dehydrogenase deficiency Orphanet:79157 MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym Pnpo deficiency Pnpo deficiency PNPO deficiency Orphanet:79096 Pyridoxal phosphate-responsive seizures OMIM:610090 Pnpo deficiency Orphanet:79096 @@ -884,10 +679,7 @@ MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 oio:hasExactSynonym oi MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia oio:hasExactSynonym oio:hasRelatedSynonym EBS with pyloric atresia Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia OMIM:612138 EBS with pyloric atresia Orphanet:158684 MONDO:0012824 hypomyelinating leukodystrophy 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Hsp60 chaperonopathy mitochondrial Hsp60 chaperonopathy Mitochondrial HSP60 chaperonopathy Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation OMIM:612233 mitochondrial Hsp60 chaperonopathy Orphanet:280288 MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 10q22.3q23.3 microdeletion syndrome Orphanet:276413 10q22.3q23.3 microdeletion syndrome Orphanet:276413 10q22.3q23.3 microdeletion syndrome Orphanet:276413 -MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis of infancy juvenile polyposis of infancy Juvenile polyposis of infancy Orphanet:79076 Juvenile polyposis of infancy OMIM:612242 juvenile polyposis of infancy Orphanet:79076 MONDO:0012856 Birk-Barel syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, Birk-Barel type intellectual disability, Birk-Barel type Intellectual disability, Birk-Barel type Orphanet:166108 Intellectual disability, Birk-Barel type Orphanet:166108 intellectual disability, Birk-Barel type Orphanet:166108 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome GARD:0013206 SATB2-associated syndrome Orphanet:576278 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0013206 SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym protein S acquired deficiency protein S acquired deficiency Protein S acquired deficiency Orphanet:26349 Protein S acquired deficiency Orphanet:26349 protein S acquired deficiency Orphanet:26349 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym SCD-EDS Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612350 SCD-EDS Orphanet:157965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012895 torsion dystonia 17 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT17 type primary dystonia, DYT17 type Primary dystonia, DYT17 type Orphanet:370103 Primary dystonia, DYT17 type Orphanet:370103 primary dystonia, DYT17 type Orphanet:370103 @@ -908,8 +700,6 @@ MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies oio:hasExactSynonym oio:hasRelatedSynonym ROIFMAN-Chitayat syndrome ROIFMAN-Chitayat syndrome Roifman-Chitayat syndrome Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies OMIM:613328 ROIFMAN-Chitayat syndrome Orphanet:221139 MONDO:0013232 brachydactylous dwarfism, Mseleni type oio:hasExactSynonym oio:hasRelatedSynonym Mseleni JOINT disease Mseleni JOINT disease Mseleni joint disease Orphanet:2619 Brachydactylous dwarfism, Mseleni type OMIM:613342 Mseleni JOINT disease Orphanet:2619 MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome Orphanet:280558 Warsaw breakage syndrome OMIM:613398 WARSAW breakage syndrome Orphanet:280558 -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Witteveen-Kolk syndrome Orphanet:500163 Witteveen-Kolk syndrome OMIM:613406 Witteveen-Kolk syndrome Orphanet:500163 -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOS Orphanet:500163 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613406 WITKOS Orphanet:500163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency Orphanet:60 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency Orphanet:60 MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 @@ -937,13 +727,9 @@ MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency oio:hasExactSynonym oio: MONDO:0013615 craniosynostosis and dental anomalies oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-dental anomalies craniosynostosis-dental anomalies Craniosynostosis-dental anomalies Orphanet:284149 Craniosynostosis-dental anomalies Orphanet:284149 craniosynostosis-dental anomalies Orphanet:284149 MONDO:0013622 platelet-type bleeding disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to integrin alpha2-beta1 deficiency bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 MONDO:0013623 platelet-type bleeding disorder 11 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to glycoprotein VI deficiency bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris OMIM:614204 palmoplantar pustulosis Orphanet:163927 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym generalized pustular psoriasis generalized pustular psoriasis Generalized pustular psoriasis Orphanet:247353 Generalized pustular psoriasis OMIM:614204 generalized pustular psoriasis Orphanet:247353 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym GPP Orphanet:247353 Generalized pustular psoriasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:247353, OMIM:614204 GPP Orphanet:247353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial membrane protein-associated neurodegeneration mitochondrial membrane protein-associated neurodegeneration Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical MMDS2 Orphanet:401874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym oio:hasRelatedSynonym LWNH Orphanet:79150 Linear and whorled nevoid hypermelanosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614323, MONDO:Lexical LWNH Orphanet:79150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency Orphanet:309108 Pancreatic colipase deficiency OMIM:614338 pancreatic colipase deficiency Orphanet:309108 MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome https://github.com/monarch-initiative/mondo/issues/1112 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym EMARDD Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:439212, MONDO:Lexical, OMIM:614399 EMARDD Orphanet:439212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym oio:hasBroadSynonym autosomal SLE autosomal SLE Autosomal SLE Orphanet:300345 Autosomal systemic lupus erythematosus Orphanet:300345 autosomal SLE Orphanet:300345 @@ -952,7 +738,6 @@ MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym CMT2G Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99941, OMIM:608591, MONDO:Lexical CMT2G Orphanet:99941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013766 familial cold autoinflammatory syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 MONDO:0013776 spastic ataxia 5 oio:hasExactSynonym oio:hasRelatedSynonym early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 -MONDO:0013781 pseudohypoaldosteronism type 2D oio:hasExactSynonym oio:hasRelatedSynonym familial hyperkalemic hypertension familial hyperkalemic hypertension Familial hyperkalemic hypertension Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:614495 familial hyperkalemic hypertension Orphanet:757 MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSynonym oio:hasRelatedSynonym Labrune syndrome Orphanet:542310 Leukoencephalopathy with calcifications and cysts OMIM:614561 Labrune syndrome Orphanet:542310 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type Multiple Enchondromatosis, Maffucci Type Orphanet:163634 Maffucci syndrome OMIM:614569 multiple enchondromatosis, Maffucci type Orphanet:163634 @@ -984,11 +769,9 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sam syndrome Sam syndrome SAM syndrome Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome OMIM:615508 Sam syndrome Orphanet:369992 MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym COLE disease COLE disease Cole disease Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:Lexical, OMIM:615522 COLE disease Orphanet:324561 MONDO:0014234 reticulate acropigmentation of Kitamura oio:hasExactSynonym oio:hasRelatedSynonym RAK Orphanet:178307 Reticulate acropigmentation of Kitamura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615537, MONDO:Lexical RAK Orphanet:178307 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014243 Schaaf-Yang syndrome oio:hasExactSynonym oio:hasRelatedSynonym Prader-Willi-like syndrome Orphanet:398073 Prader-Willi-like syndrome OMIM:615547 Prader-Willi-like syndrome Orphanet:398073 MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym oio:hasRelatedSynonym COASY protein-associated neurodegeneration Orphanet:397725 COASY protein-associated neurodegeneration Orphanet:397725 COASY protein-associated neurodegeneration Orphanet:397725 MONDO:0014298 chromosome 5q12 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDE4D haploinsufficiency syndrome Orphanet:439822 PDE4D haploinsufficiency syndrome Orphanet:439822 PDE4D haploinsufficiency syndrome Orphanet:439822 MONDO:0014305 hereditary spastic paraplegia 63 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 63 autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 autosomal recessive spastic paraplegia type 63 Orphanet:401805 -MONDO:0014306 vasculitis due to ADA2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym PAN Orphanet:767 Polyarteritis nodosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615688, MONDO:Lexical PAN Orphanet:767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement oio:hasExactSynonym oio:hasRelatedSynonym hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym Salih ataxia Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency OMIM:615705 Salih ataxia Orphanet:404499 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 @@ -1029,42 +812,30 @@ MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X oio:hasExactSynonym oio MONDO:0014732 hypomyelinating leukodystrophy 12 oio:hasExactSynonym oio:hasRelatedSynonym VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 MONDO:0014735 Charcot-Marie-Tooth disease type 2Y oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2Y Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Z autosomal dominant Charcot-Marie-Tooth disease type 2Z Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESANTO-SHINAWI syndrome DESANTO-SHINAWI syndrome Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 DESANTO-SHINAWI syndrome Orphanet:466943 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 Desanto-Shinawi syndrome Orphanet:466943 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESSH Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616708 DESSH Orphanet:466943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAKENOUCHI-Kosaki syndrome TAKENOUCHI-Kosaki syndrome Takenouchi-Kosaki syndrome Orphanet:487796 Takenouchi-Kosaki syndrome OMIM:616737 TAKENOUCHI-Kosaki syndrome Orphanet:487796 MONDO:0014760 TFRC-related combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency due to TFRC deficiency combined immunodeficiency due to TFRC deficiency Combined immunodeficiency due to TFRC deficiency Orphanet:476113 Combined immunodeficiency due to TFRC deficiency Orphanet:476113 combined immunodeficiency due to TFRC deficiency Orphanet:476113 MONDO:0014803 spasticity-ataxia-gait anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym childhood-onset spasticity with hyperglycinemia childhood-onset spasticity with hyperglycinemia Childhood-onset spasticity with hyperglycinemia Orphanet:401866 Childhood-onset spasticity with hyperglycinemia Orphanet:401866 childhood-onset spasticity with hyperglycinemia Orphanet:401866 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal Charcot-Marie-Tooth disease type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T DOID:0110160 autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym AR-CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110160 AR-CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014882 hereditary spastic paraplegia 77 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 77 autosomal recessive spastic paraplegia type 77 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 autosomal recessive spastic paraplegia type 77 Orphanet:466722 MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome Thauvin-Robinet-Faivre syndrome Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome OMIM:617107 THAUVIN-robinet-Faivre syndrome Orphanet:500095 MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome OMIM:617140 Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 1 refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 1 Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 Orphanet:100019 refractory anemia with excess blasts type 1 Orphanet:100019 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 2 refractory anemia with excess blasts type 2 Refractory anemia with excess blasts type 2 Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 Orphanet:100020 refractory anemia with excess blasts type 2 Orphanet:100020 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym oio:hasRelatedSynonym reactive angioendotheliomatosis reactive angioendotheliomatosis Reactive angioendotheliomatosis Orphanet:673574 Reactive angioendotheliomatosis GARD:0009445 reactive angioendotheliomatosis Orphanet:673574 MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal neuroendocrine tumor Orphanet:100077 Jejunal neuroendocrine tumor Orphanet:100077 jejunal neuroendocrine tumor Orphanet:100077 MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal neuroendocrine tumor Orphanet:100078 Ileal neuroendocrine tumor Orphanet:100078 ileal neuroendocrine tumor Orphanet:100078 MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of appendix neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of appendix Orphanet:100079 Neuroendocrine neoplasm of appendix Orphanet:100079 neuroendocrine neoplasm of appendix Orphanet:100079 MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of anal canal neuroendocrine tumor of anal canal Neuroendocrine tumor of anal canal Orphanet:100082 Neuroendocrine tumor of anal canal Orphanet:100082 neuroendocrine tumor of anal canal Orphanet:100082 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor laryngeal neuroendocrine tumor Laryngeal neuroendocrine tumor Orphanet:100083 Laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor Orphanet:100083 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency Orphanet:101972 Combined T and B cell immunodeficiency Orphanet:101972 combined T and B cell immunodeficiency Orphanet:101972 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome Orphanet:99749 Kostmann syndrome NCIT:C61242 Kostmann syndrome Orphanet:99749 MONDO:0015167 amniotic band syndrome oio:hasExactSynonym oio:hasRelatedSynonym amniotic band sequence amniotic band sequence Amniotic band sequence Orphanet:295000 Amniotic band syndrome OMIM:217100 amniotic band sequence Orphanet:295000 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita amyoplasia congenita Amyoplasia congenita Orphanet:488586 Congenital amyoplasia Orphanet:1037 amyoplasia congenita Orphanet:488586 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia congenital amyoplasia Congenital amyoplasia Orphanet:488586 Congenital amyoplasia Orphanet:1037 congenital amyoplasia Orphanet:488586 -MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym oio:hasRelatedSynonym MAD Orphanet:2457 Mandibuloacral dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003562 MAD Orphanet:2457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome oio:hasExactSynonym oio:hasRelatedSynonym ankyloblepharon filiforme adnatum-imperforate anus syndrome ankyloblepharon filiforme adnatum-imperforate anus syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 MONDO:0015237 arrhinia oio:hasExactSynonym oio:hasRelatedSynonym isolated arrhinia isolated arrhinia Isolated arrhinia Orphanet:1134 Isolated arrhinia Orphanet:1134 isolated arrhinia Orphanet:1134 MONDO:0015241 arthrogryposis-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kuskokwim syndrome Orphanet:1149 Kuskokwim syndrome GARD:0003150 Kuskokwim syndrome Orphanet:1149 -MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym oio:hasRelatedSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans GARD:0005961 constrictive bronchiolitis Orphanet:1303 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis obliterans bronchiolitis obliterans Bronchiolitis obliterans Orphanet:1303 Bronchiolitis obliterans MONDO:ambiguous bronchiolitis obliterans Orphanet:1303 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis obliterative bronchiolitis Obliterative bronchiolitis Orphanet:1303 Bronchiolitis obliterans Orphanet:1303, DOID:2799 obliterative bronchiolitis Orphanet:1303 MONDO:0015275 partial atrioventricular canal oio:hasExactSynonym oio:hasRelatedSynonym partial AVSD partial AVSD Partial AVSD Orphanet:1330 Partial atrioventricular septal defect GARD:0004229 partial AVSD Orphanet:1330 MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym PLCA Orphanet:137807 Primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:137807 PLCA Orphanet:137807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis Orphanet:353220 Familial primary localized cutaneous amyloidosis DOID:0050639 familial primary localized cutaneous amyloidosis Orphanet:353220 MONDO:0015387 nasolacrimal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym dacryocystocele dacryocystocele Dacryocystocele Orphanet:141083 Nasolacrimal duct cyst Orphanet:141083 dacryocystocele Orphanet:141083 MONDO:0015430 ring chromosome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 1 syndrome Orphanet:1437 Ring chromosome 1 syndrome Orphanet:1437 Ring chromosome 1 syndrome Orphanet:1437 MONDO:0015431 ring chromosome 10 oio:hasExactSynonym oio:hasRelatedSynonym Ring 10 Orphanet:1438 Ring chromosome 10 syndrome GARD:0001322 Ring 10 Orphanet:1438 @@ -1091,34 +862,26 @@ MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym MONDO:0015448 mitochondrial complex III deficiency oio:hasExactSynonym oio:hasRelatedSynonym isolated complex III deficiency isolated complex III deficiency Isolated complex III deficiency Orphanet:1460 Isolated complex III deficiency Orphanet:1460 isolated complex III deficiency Orphanet:1460 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniodigital-intellectual disability syndrome craniodigital-intellectual disability syndrome Craniodigital-intellectual disability syndrome Orphanet:1514 Craniodigital-intellectual disability syndrome Orphanet:1514 craniodigital-intellectual disability syndrome Orphanet:1514 MONDO:0015487 fatal infantile encephalocardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile cytochrome C oxidase deficiency fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 fatal infantile cytochrome C oxidase deficiency Orphanet:1561 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis Orphanet:540 Familial hemophagocytic lymphohistiocytosis GARD:0006589 familial hemophagocytic lymphohistiocytosis Orphanet:540 MONDO:0015610 acquired aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym rare acquired aplastic anemia rare acquired aplastic anemia Rare acquired aplastic anemia Orphanet:164823 Rare acquired aplastic anemia Orphanet:164823 rare acquired aplastic anemia Orphanet:164823 -MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis DOID:0050729 Chanarin-Dorfman syndrome Orphanet:98907 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Orphanet:166 MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep oio:hasExactSynonym oio:hasRelatedSynonym benign infantile focal epilepsy with midline spikes and waves during sleep benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 MONDO:0015645 eating seizures oio:hasExactSynonym oio:hasRelatedSynonym eating reflex epilepsy eating reflex epilepsy Eating reflex epilepsy Orphanet:166418 Eating reflex epilepsy Orphanet:166418 eating reflex epilepsy Orphanet:166418 -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym lichen myxedematosus lichen myxedematosus Lichen myxedematosus Orphanet:402007 Lichen myxedematosus MESH:D053718 lichen myxedematosus Orphanet:402007 -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus MESH:D053718 papular mucinosis Orphanet:86795 -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute myeloid leukemia Orphanet:519 Acute myeloid leukemia NCIT:C27753 acute myeloid leukemia Orphanet:519 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 14 Orphanet:1703 Mosaic trisomy 14 GARD:0001327 Mosaic trisomy chromosome 14 Orphanet:1703 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 mosaicism Orphanet:1703 Mosaic trisomy 14 GARD:0001327 trisomy 14 mosaicism Orphanet:1703 MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 7 Orphanet:1747 Mosaic trisomy 7 GARD:0005354 Mosaic trisomy chromosome 7 Orphanet:1747 MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 7 mosaicism trisomy 7 mosaicism Trisomy 7 mosaicism Orphanet:1747 Mosaic trisomy 7 GARD:0005354 trisomy 7 mosaicism Orphanet:1747 -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome Orphanet:3322 Hoyeraal-Hreidarsson syndrome GARD:0010905 Hoyeraal-Hreidarsson syndrome Orphanet:3322 MONDO:0015830 partial bilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym partial bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the Müllerian ducts Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 partial bilateral aplasia of the Müllerian ducts Orphanet:180068 MONDO:0015831 unilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym unilateral aplasia of the Müllerian ducts unilateral aplasia of the Müllerian ducts Unilateral aplasia of the Müllerian ducts Orphanet:180071 Unilateral aplasia of the Müllerian ducts Orphanet:180071 unilateral aplasia of the Müllerian ducts Orphanet:180071 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal malignant epithelial tumor vaginal malignant epithelial tumor Vaginal malignant epithelial tumor Orphanet:180247 Vaginal carcinoma Orphanet:180247 vaginal malignant epithelial tumor Orphanet:180247 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Orphanet:180275 Paget disease of the nipple Orphanet:180275 Paget disease of the breast Orphanet:180275 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym mammary Paget disease mammary Paget disease Mammary Paget disease Orphanet:180275 Paget disease of the nipple Orphanet:180275 mammary Paget disease Orphanet:180275 -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia Orphanet:418 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia congenital adrenal hyperplasia Orphanet:418 MONDO:0015905 syndromic dyslipidemia oio:hasExactSynonym oio:hasRelatedSynonym rare syndromic dyslipidemia rare syndromic dyslipidemia Rare syndromic dyslipidemia Orphanet:181437 Rare syndromic dyslipidemia Orphanet:181437 rare syndromic dyslipidemia Orphanet:181437 MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogenodermatosis photogenodermatosis Photogenodermatosis Orphanet:183490 Genetic photodermatosis Orphanet:183490 photogenodermatosis Orphanet:183490 MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogénodermatose photogénodermatose Photogénodermatose Orphanet:183490 Genetic photodermatosis Orphanet:183490 photogénodermatose Orphanet:183490 MONDO:0015962 inherited renal tubular disease oio:hasExactSynonym oio:hasRelatedSynonym genetic renal tubular disease genetic renal tubular disease Genetic renal tubular disease Orphanet:183592 Genetic renal tubular disease Orphanet:183592 genetic renal tubular disease Orphanet:183592 MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym renal agenesis, bilateral renal agenesis, bilateral Renal agenesis, bilateral Orphanet:1848 Renal agenesis, bilateral Orphanet:1848 renal agenesis, bilateral Orphanet:1848 -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency Orphanet:247525 Citrullinemia type I DOID:9273 ass deficiency Orphanet:247525 MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym oio:hasRelatedSynonym cone rod dystrophy cone rod dystrophy Cone rod dystrophy Orphanet:1872 Cone rod dystrophy Orphanet:1872 cone rod dystrophy Orphanet:1872 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym EDS VIA Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 EDS VIA Orphanet:1900 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome type 6A Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 Ehlers-Danlos syndrome type 6A Orphanet:1900 @@ -1133,16 +896,12 @@ MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSy MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the vagina malignant germ cell tumor of the vagina Malignant germ cell tumor of the vagina Orphanet:206489 Malignant germ cell tumor of the vagina Orphanet:206489 malignant germ cell tumor of the vagina Orphanet:206489 MONDO:0016095 vaginal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vulvovaginal rhabdomyosarcoma vulvovaginal rhabdomyosarcoma Vulvovaginal rhabdomyosarcoma Orphanet:206492 Vulvovaginal rhabdomyosarcoma Orphanet:206492 vulvovaginal rhabdomyosarcoma Orphanet:206492 MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease Orphanet:206575 Rippling muscle disease with myasthenia gravis Orphanet:206575 acquired rippling muscle disease Orphanet:206575 -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan oio:hasExactSynonym oio:hasNarrowSynonym gamma-sarcoglycanopathy gamma-sarcoglycanopathy Gamma-sarcoglycanopathy Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORCID:0000-0002-6601-2165 gamma-sarcoglycanopathy Orphanet:353 MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016207 phacoanaphylactic uveitis oio:hasExactSynonym oio:hasRelatedSynonym lens-induced iridocyclitis lens-induced iridocyclitis Lens-induced iridocyclitis Orphanet:209959 Phacoanaphylactic uveitis Orphanet:209959 lens-induced iridocyclitis Orphanet:209959 MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym benign nocturnal alternating hemiplegia of childhood benign nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 benign nocturnal alternating hemiplegia of childhood Orphanet:209973 MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym oio:hasRelatedSynonym inherited congenital spastic tetraplegia inherited congenital spastic tetraplegia Inherited congenital spastic tetraplegia Orphanet:210141 Inherited congenital spastic tetraplegia Orphanet:210141 inherited congenital spastic tetraplegia Orphanet:210141 MONDO:0016217 mal de Debarquement oio:hasExactSynonym oio:hasRelatedSynonym Mal de débarquement Orphanet:210272 Mal de débarquement Orphanet:210272 Mal de débarquement Orphanet:210272 -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome Orphanet:84142 Isaacs syndrome DOID:963 Isaacs syndrome Orphanet:84142 MONDO:0016231 capillary malformation oio:hasExactSynonym oio:hasRelatedSynonym rare capillary malformation rare capillary malformation Rare capillary malformation Orphanet:211247 Rare capillary malformation Orphanet:211247 rare capillary malformation Orphanet:211247 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia Orphanet:209978 Alternating hemiplegia GARD:0000011 alternating hemiplegia Orphanet:209978 MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym malignant mixed epithelial and mesenchymal tumor of corpus uteri malignant mixed epithelial and mesenchymal tumor of corpus uteri Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasNarrowSynonym mixed epithelial and mesenchymal cancer of corpus uteri mixed epithelial and mesenchymal cancer of corpus uteri Mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 MONDO:0016258 uterine corpus carcinofibroma oio:hasExactSynonym oio:hasRelatedSynonym Carcinofibroma of the corpus uteri Orphanet:213605 Carcinofibroma of the corpus uteri Orphanet:213605 Carcinofibroma of the corpus uteri Orphanet:213605 @@ -1154,9 +913,7 @@ MONDO:0016267 undifferentiated carcinoma of the corpus uteri oio:hasExactSynonym MONDO:0016272 transitional cell carcinoma of the corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym endometrial transitional cell carcinoma endometrial transitional cell carcinoma Endometrial transitional cell carcinoma Orphanet:213746 Transitional cell carcinoma of the corpus uteri Orphanet:213746 endometrial transitional cell carcinoma Orphanet:213746 MONDO:0016273 malignant germ cell tumor of corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the corpus uteri malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the corpus uteri Orphanet:213751 Malignant germ cell tumor of the corpus uteri Orphanet:213751 malignant germ cell tumor of the corpus uteri Orphanet:213751 MONDO:0016289 malignant germ cell tumor of cervix uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the cervix uteri malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the cervix uteri Orphanet:213837 Malignant germ cell tumor of the cervix uteri Orphanet:213837 malignant germ cell tumor of the cervix uteri Orphanet:213837 -MONDO:0016333 familial dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000221 DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis Orphanet:221 Dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis Orphanet:221 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis Orphanet:645617 Amyopathic dermatomyositis DOID:10223, MESH:C538250 Amyopathic dermatomyositis Orphanet:645617 MONDO:0016370 Marchiafava-Bignami disease oio:hasExactSynonym oio:hasRelatedSynonym MBD Orphanet:221074 Marchiafava-Bignami disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006971 MBD Orphanet:221074 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016374 cranial neuralgia oio:hasExactSynonym oio:hasNarrowSynonym facial neuralgia facial neuralgia Facial neuralgia Orphanet:221109 Cranial neuralgia Orphanet:221109 facial neuralgia Orphanet:221109 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Baló concentric sclerosis Orphanet:228165 Baló concentric sclerosis GARD:0005885 Baló concentric sclerosis Orphanet:228165 @@ -1166,18 +923,13 @@ MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSyno MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal-cervical-brachial variant of Guillain-Barré syndrome pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 MONDO:0016497 paraparetic variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym paraparetic variant of Guillain-Barré syndrome paraparetic variant of Guillain-Barré syndrome Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 paraparetic variant of Guillain-Barré syndrome Orphanet:231445 MONDO:0016505 aldosterone-producing adrenal cortex adenoma oio:hasExactSynonym oio:hasRelatedSynonym adrenocortical carcinoma with pure aldosterone hypersecretion adrenocortical carcinoma with pure aldosterone hypersecretion Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hoffman syndrome Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Orphanet:2349 Hoffman syndrome Orphanet:567502 MONDO:0016528 limb body wall complex oio:hasExactSynonym oio:hasRelatedSynonym body stalk anomaly body stalk anomaly Body stalk anomaly Orphanet:2369 Limb body wall complex GARD:0003251 body stalk anomaly Orphanet:2369 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym oio:hasRelatedSynonym isolated split hand-split foot malformation isolated split hand-split foot malformation Isolated split hand-split foot malformation Orphanet:2440 Isolated split hand-split foot malformation Orphanet:2440 isolated split hand-split foot malformation Orphanet:2440 -MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym conotruncal anomaly face syndrome conotruncal anomaly face syndrome Conotruncal anomaly face syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:217095 conotruncal anomaly face syndrome Orphanet:567 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Orphanet:98850 Aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis Orphanet:98850 MONDO:0016639 lower limb deficiency-hypospadias syndrome oio:hasExactSynonym oio:hasRelatedSynonym lower limb malformation-hypospadias syndrome lower limb malformation-hypospadias syndrome Lower limb malformation-hypospadias syndrome Orphanet:2487 Lower limb malformation-hypospadias syndrome Orphanet:2487 lower limb malformation-hypospadias syndrome Orphanet:2487 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring 5 Orphanet:251043 Ring chromosome 5 syndrome GARD:0010841 Ring 5 Orphanet:251043 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 5 syndrome Orphanet:251043 Ring chromosome 5 syndrome Orphanet:251043 Ring chromosome 5 syndrome Orphanet:251043 MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly Orphanet:2512 true microcephaly Orphanet:2512 MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-grade astrocytoma Orphanet:251561 High-grade astrocytoma Orphanet:251561 high-grade astrocytoma Orphanet:251561 -MONDO:0016692 pilomyxoid astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym PMA Orphanet:454706 Progressive muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PMA PMA Orphanet:454706 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial tumor Orphanet:46484 Oligodendroglial tumor DOID:3181, NCIT:C6960 oligodendroglial tumor Orphanet:46484 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 CNS PNET Orphanet:251870 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central nervous system primitive neuroectodermal tumor Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 central nervous system primitive neuroectodermal tumor Orphanet:251870 MONDO:0016745 diffuse leptomeningeal melanocytosis oio:hasExactSynonym oio:hasBroadSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis Orphanet:252031 Diffuse leptomeningeal melanocytosis Orphanet:252031 leptomeningeal melanomatosis Orphanet:252031 @@ -1187,24 +939,14 @@ MONDO:0016750 microcephaly-cleft palate syndrome oio:hasExactSynonym oio:hasRela MONDO:0016814 maternally-inherited Leigh syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA-associated Leigh syndrome mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-associated Leigh syndrome Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome GARD:0003671 mitochondrial DNA-associated Leigh syndrome Orphanet:255210 MONDO:0016828 autosomal recessive sideroblastic anemia oio:hasExactSynonym oio:hasBroadSynonym congenital sideroblastic anemia congenital sideroblastic anemia Congenital sideroblastic anemia Orphanet:260305 Autosomal recessive sideroblastic anemia Orphanet:260305 congenital sideroblastic anemia Orphanet:260305 MONDO:0016853 ring chromosome Y oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome Y syndrome Orphanet:261529 Ring chromosome Y syndrome Orphanet:261529 Ring chromosome Y syndrome Orphanet:261529 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym Alagille-Watson syndrome Orphanet:52 Alagille syndrome OMIM:118450 Alagille-Watson syndrome Orphanet:52 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym arteriohepatic dysplasia arteriohepatic dysplasia Arteriohepatic dysplasia Orphanet:52 Alagille syndrome OMIM:118450 arteriohepatic dysplasia Orphanet:52 -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym Duplication 8p Orphanet:264450 Trisomy 8p GARD:0005361 Duplication 8p Orphanet:264450 -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8p trisomy 8p Trisomy 8p Orphanet:264450 Trisomy 8p GARD:0005361 trisomy 8p Orphanet:264450 MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III oio:hasExactSynonym oio:hasNarrowSynonym Taybi-Linder syndrome Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III Orphanet:2636 Taybi-Linder syndrome Orphanet:2636 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida Orphanet:268369 Open spinal dysraphism MESH:D016137 open spina bifida Orphanet:268369 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta Orphanet:268369 Open spinal dysraphism MESH:D016137 spina bifida aperta Orphanet:268369 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele Orphanet:93969 Open spinal dysraphism with a myelomeningocele NCIT:C101201 myelomeningocele Orphanet:93969 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial meningocele Orphanet:268820 Cranial meningocele Orphanet:268820 cranial meningocele Orphanet:268820 MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym oio:hasRelatedSynonym Opitz BBBG syndrome Orphanet:2745 Opitz GBBB syndrome GARD:0000193 Opitz BBBG syndrome Orphanet:2745 MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym imperforate oropharynx-costovertebral anomalies syndrome imperforate oropharynx-costovertebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasNarrowSynonym familial osteochondritis dissecans familial osteochondritis dissecans Familial osteochondritis dissecans Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 familial osteochondritis dissecans Orphanet:251262 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis dissecans and short stature osteochondritis dissecans and short stature Osteochondritis dissecans and short stature Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 osteochondritis dissecans and short stature Orphanet:251262 MONDO:0017198 osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym osteopetrosis and related disorders osteopetrosis and related disorders Osteopetrosis and related disorders Orphanet:2781 Osteopetrosis and related disorders Orphanet:2781 osteopetrosis and related disorders Orphanet:2781 MONDO:0017267 self-healing collodion baby oio:hasExactSynonym oio:hasRelatedSynonym self-improving collodion baby self-improving collodion baby Self-improving collodion baby Orphanet:281122 Self-improving collodion baby Orphanet:281122 self-improving collodion baby Orphanet:281122 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection echinococcus multilocularis infection Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis DOID:12148 echinococcus multilocularis infection Orphanet:284 -MONDO:0017304 ocular albinism oio:hasExactSynonym oio:hasNarrowSynonym XLOA Orphanet:54 X-linked recessive ocular albinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:54 XLOA Orphanet:54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vEDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vEDS Orphanet:286 MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular EDS vascular EDS Vascular EDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vascular EDS Orphanet:286 MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular Ehlers-Danlos syndrome vascular Ehlers-Danlos syndrome Vascular Ehlers-Danlos syndrome Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vascular Ehlers-Danlos syndrome Orphanet:286 @@ -1213,28 +955,21 @@ MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism oio:hasExac MONDO:0017362 neuralgic amyotrophy oio:hasExactSynonym oio:hasBroadSynonym brachial plexus neuritis brachial plexus neuritis Brachial plexus neuritis Orphanet:2901 Neuralgic amyotrophy Orphanet:2901 brachial plexus neuritis Orphanet:2901 MONDO:0017363 idiopathic chronic eosinophilic pneumonia oio:hasExactSynonym oio:hasBroadSynonym chronic eosinophilic pneumonia chronic eosinophilic pneumonia Chronic eosinophilic pneumonia Orphanet:2902 Idiopathic chronic eosinophilic pneumonia Orphanet:2902 chronic eosinophilic pneumonia Orphanet:2902 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:579 Mucopolysaccharidosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI Orphanet:579 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 MONDO:0017456 central polydactyly of fingers oio:hasExactSynonym oio:hasRelatedSynonym central polydactyly central polydactyly Central polydactyly Orphanet:295004 Central polydactyly Orphanet:295004 central polydactyly Orphanet:295004 MONDO:0017469 congenital elbow dislocation oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital radial head dislocation isolated congenital radial head dislocation Isolated congenital radial head dislocation Orphanet:295032 Isolated congenital radial head dislocation Orphanet:295032 isolated congenital radial head dislocation Orphanet:295032 MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, de Barsy type progeroid syndrome, de Barsy type Progeroid syndrome, De Barsy type Orphanet:2962 De Barsy syndrome GARD:0000049 progeroid syndrome, de Barsy type Orphanet:2962 MONDO:0017570 leukocyte adhesion deficiency oio:hasExactSynonym oio:hasBroadSynonym LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2968 LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy oio:hasExactSynonym oio:hasRelatedSynonym oculogastrointestinal muscular dystrophy oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy Orphanet:1876 Oculogastrointestinal muscular dystrophy GARD:0009920 oculogastrointestinal muscular dystrophy Orphanet:1876 MONDO:0017588 nail tumor oio:hasExactSynonym oio:hasRelatedSynonym rare nail tumor rare nail tumor Rare nail tumor Orphanet:300515 Rare nail tumor Orphanet:300515 rare nail tumor Orphanet:300515 MONDO:0017617 acquired adult-onset immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies GARD:0011992 adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Orphanet:306431 MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stoll-Géraudel-Chauvin syndrome Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome GARD:0003514 Stoll-Géraudel-Chauvin syndrome Orphanet:3074 MONDO:0017686 inborn aminoacylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym aminoacylase deficiency aminoacylase deficiency Aminoacylase deficiency Orphanet:308448 Aminoacylase deficiency Orphanet:308448 aminoacylase deficiency Orphanet:308448 -MONDO:0017705 congenital pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome GARD:0004599 scimitar syndrome Orphanet:185 MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation oio:hasExactSynonym oio:hasRelatedSynonym disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 MONDO:0017764 disorder of zinc metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of zinc metabolism and transport disorder of zinc metabolism and transport Disorder of zinc metabolism and transport Orphanet:309845 Disorder of zinc metabolism and transport Orphanet:309845 disorder of zinc metabolism and transport Orphanet:309845 MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma Orphanet:55881 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma Orphanet:55881 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma Orphanet:3148 Malignant peripheral nerve sheath tumor NCIT:C3798, Orphanet:3148 neurofibrosarcoma Orphanet:3148 MONDO:0017836 erythrokeratoderma en cocardes oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratoderma ''en cocardes'' erythrokeratoderma ''en cocardes'' Erythrokeratoderma ''en cocardes'' Orphanet:315 Erythrokeratoderma ''en cocardes'' Orphanet:315 erythrokeratoderma ''en cocardes'' Orphanet:315 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis extremitatum hereditaria progrediens keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096 keratosis extremitatum hereditaria progrediens Orphanet:495 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris transgrediens et progrediens keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens et progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096, MESH:C536154, OMIM:133200 keratosis palmoplantaris transgrediens et progrediens Orphanet:495 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Orphanet:318 Acute erythroid leukemia Orphanet:318 Erythroleukemia Orphanet:318 -MONDO:0017865 congenital pulmonary valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular pulmonary stenosis valvular pulmonary stenosis Valvular pulmonary stenosis Orphanet:99054 Valvular pulmonary stenosis GARD:0004596 valvular pulmonary stenosis Orphanet:99054 MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey disease monkey disease Monkey disease Orphanet:319254 Kyasanur forest disease Orphanet:319254 monkey disease Orphanet:319254 MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey fever monkey fever Monkey fever Orphanet:319254 Kyasanur forest disease Orphanet:319254 monkey fever Orphanet:319254 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym bladder exstrophy-epispadias-cloacal extrophy complex bladder exstrophy-epispadias-cloacal extrophy complex Bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 Exstrophy-epispadias complex Orphanet:322 bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 @@ -1249,63 +984,39 @@ MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malign MONDO:0018097 West syndrome oio:hasExactSynonym oio:hasRelatedSynonym Infantile spasms syndrome Orphanet:3451 Infantile spasms syndrome DOID:0050562 Infantile spasms syndrome Orphanet:3451 MONDO:0018141 pyruvate carboxylase deficiency, infantile form oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency, infantile type pyruvate carboxylase deficiency, infantile type Pyruvate carboxylase deficiency, infantile type Orphanet:353308 Pyruvate carboxylase deficiency, infantile type Orphanet:353308 pyruvate carboxylase deficiency, infantile type Orphanet:353308 MONDO:0018148 vasoproliferative tumor of retina oio:hasExactSynonym oio:hasRelatedSynonym vasoproliferative tumor of the retina vasoproliferative tumor of the retina Vasoproliferative tumor of the retina Orphanet:353356 Vasoproliferative tumor of the retina Orphanet:353356 vasoproliferative tumor of the retina Orphanet:353356 -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym oio:hasNarrowSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic cerebellar degeneration Orphanet:623626 Paraneoplastic cerebellar degeneration Orphanet:36388 paraneoplastic cerebellar degeneration Orphanet:623626 -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema multiforme major Orphanet:502499 Erythema multiforme major NCIT:C79484 erythema multiforme major Orphanet:502499 MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy due to dystroglycanopathy congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym oio:hasRelatedSynonym hepatic cystic hamartoma hepatic cystic hamartoma Hepatic cystic hamartoma Orphanet:386 Hepatic cystic hamartoma Orphanet:386 hepatic cystic hamartoma Orphanet:386 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis Orphanet:391504 Transient neonatal myasthenia gravis Orphanet:391504 neonatal myasthenia gravis Orphanet:391504 MONDO:0018371 nebulin-related early-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym distal nebulin myopathy distal nebulin myopathy Distal nebulin myopathy Orphanet:399103 Distal nebulin myopathy Orphanet:399103 distal nebulin myopathy Orphanet:399103 MONDO:0018424 inherited lipoic acid biosynthesis defect oio:hasExactSynonym oio:hasRelatedSynonym lipoic acid biosynthesis defect lipoic acid biosynthesis defect Lipoic acid biosynthesis defect Orphanet:401854 Lipoic acid biosynthesis defect Orphanet:401854 lipoic acid biosynthesis defect Orphanet:401854 -MONDO:0018432 lichen myxedematosus oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus https://www.dermnetnz.org/topics/lichen-myxoedematosus/ papular mucinosis Orphanet:86795 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-pancreatic cancer syndrome Orphanet:404560 Familial atypical multiple mole melanoma syndrome Orphanet:404560 melanoma-pancreatic cancer syndrome Orphanet:404560 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym dysbetalipoproteinemia dysbetalipoproteinemia Dysbetalipoproteinemia Orphanet:412 Dysbetalipoproteinemia GARD:0006703 dysbetalipoproteinemia Orphanet:412 -MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym kernicterus spectrum disorder kernicterus spectrum disorder Kernicterus spectrum disorder Orphanet:529808 Chronic bilirubin encephalopathy Orphanet:415286 kernicterus spectrum disorder Orphanet:529808 -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital syndrome Orphanet:181412 Adrenogenital syndrome NCIT:C34360 adrenogenital syndrome Orphanet:181412 MONDO:0018510 small intestine neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of the small intestine neuroendocrine tumor of the small intestine Neuroendocrine tumor of the small intestine Orphanet:423975 Neuroendocrine tumor of the small intestine Orphanet:423975 neuroendocrine tumor of the small intestine Orphanet:423975 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenocarcinoma of the pancreas mucinous cystadenocarcinoma of the pancreas Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 mucinous cystadenocarcinoma of the pancreas Orphanet:424053 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic mucinous cystadenocarcinoma Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 pancreatic mucinous cystadenocarcinoma Orphanet:424053 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid pseudopapillary neoplasm of the pancreas Orphanet:424065 Solid pseudopapillary carcinoma of pancreas Orphanet:424065 solid pseudopapillary neoplasm of the pancreas Orphanet:424065 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Orphanet:560 Marshall syndrome NCIT:C116917 Marshall syndrome Orphanet:560 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym isolated congenital gonadotropin deficiency isolated congenital gonadotropin deficiency Isolated congenital gonadotropin deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism DOID:0090070 isolated congenital gonadotropin deficiency Orphanet:238666 -MONDO:0018686 acquired Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym sporadic CJD sporadic CJD Sporadic CJD Orphanet:204 Sporadic Creutzfeldt-Jakob disease MESH:C538481 sporadic CJD Orphanet:204 MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym oio:hasRelatedSynonym isolated tracheoesophageal fistula isolated tracheoesophageal fistula Isolated tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula Orphanet:454750 isolated tracheoesophageal fistula Orphanet:454750 MONDO:0018740 drug-induced methemoglobinemia oio:hasExactSynonym oio:hasBroadSynonym acquired methemoglobinemia acquired methemoglobinemia Acquired methemoglobinemia Orphanet:464453 Acquired methemoglobinemia MONDO:patterns/acquired, Orphanet:464453 acquired methemoglobinemia Orphanet:464453 MONDO:0018767 severe primary trimethylaminuria oio:hasExactSynonym oio:hasRelatedSynonym TMAU Orphanet:468726 Severe primary trimethylaminuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602079, MONDO:Lexical TMAU Orphanet:468726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria Orphanet:47045 Familial cold urticaria Orphanet:47045 familial cold urticaria Orphanet:47045 MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym USP18 deficiency Orphanet:481665 USP18 deficiency Orphanet:481665 USP18 deficiency Orphanet:481665 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia Orphanet:675396 Epithelioid hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia Orphanet:675396 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym oio:hasBroadSynonym isolated CHF isolated CHF Isolated CHF Orphanet:485426 Isolated congenital hepatic fibrosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:485426 isolated CHF Orphanet:485426 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal carcinoma Orphanet:180226 Embryonal carcinoma ONCOTREE:BEC embryonal carcinoma Orphanet:180226 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym ulerythema ophryogenesis ulerythema ophryogenesis Ulerythema ophryogenesis Orphanet:3406 Ulerythema ophryogenesis MESH:C537412 ulerythema ophryogenesis Orphanet:3406 MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aicardi-Goutières syndrome Orphanet:51 Aicardi-Goutières syndrome Orphanet:51 Aicardi-Goutières syndrome Orphanet:51 MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasNarrowSynonym systemic vasculitis systemic vasculitis Systemic vasculitis Orphanet:52759 Vasculitis Orphanet:52759 systemic vasculitis Orphanet:52759 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital generalized lipodystrophy Orphanet:528 Congenital generalized lipodystrophy NCIT:C84594 congenital generalized lipodystrophy Orphanet:528 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes Orphanet:528 Congenital generalized lipodystrophy Orphanet:528 lipoatrophic diabetes Orphanet:528 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Orphanet:79086 Acquired generalized lipodystrophy NCIT:C84594 Lawrence-Seip syndrome Orphanet:79086 MONDO:0018914 hypotrichosis simplex oio:hasExactSynonym oio:hasNarrowSynonym hereditary hypotrichosis simplex hereditary hypotrichosis simplex Hereditary hypotrichosis simplex Orphanet:55654 Hypotrichosis simplex Orphanet:55654 hereditary hypotrichosis simplex Orphanet:55654 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia Orphanet:93276 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia Orphanet:93276 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence Orphanet:567 22q11.2 deletion syndrome Orphanet:567 DiGeorge sequence Orphanet:567 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 DiGeorge syndrome Orphanet:567 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 velocardiofacial syndrome Orphanet:567 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym ML 3 Alpha/Beta ML 3 Alpha/Beta ML 3 alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta OMIM:252600 ML 3 Alpha/Beta Orphanet:423461 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type III alpha/beta mucolipidosis type III alpha/beta Mucolipidosis type III alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta Orphanet:423461 mucolipidosis type III alpha/beta Orphanet:423461 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym classic hairy cell leukemia classic hairy cell leukemia Classic hairy cell leukemia Orphanet:58017 Classic hairy cell leukemia Orphanet:58017 classic hairy cell leukemia Orphanet:58017 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIA Orphanet:79269 Sanfilippo syndrome type A DOID:12801 mucopolysaccharidosis type IIIA Orphanet:79269 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIB Orphanet:79270 Sanfilippo syndrome type B DOID:12801 mucopolysaccharidosis type IIIB Orphanet:79270 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 galactosamine-6-sulfatase deficiency Orphanet:309297 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVA Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 mucopolysaccharidosis type IVA Orphanet:309297 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis type IVB Orphanet:309310 Mucopolysaccharidosis type 4B DOID:12804 mucopolysaccharidosis type IVB Orphanet:309310 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform mole Orphanet:99927 Hydatidiform mole DOID:3590 hydatidiform mole Orphanet:99927 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy Orphanet:99927 Hydatidiform mole NCIT:C3110, DOID:3590 molar pregnancy Orphanet:99927 MONDO:0018951 distal myopathy with vocal cord weakness oio:hasExactSynonym oio:hasRelatedSynonym vocal cord and pharyngeal distal myopathy vocal cord and pharyngeal distal myopathy Vocal cord and pharyngeal distal myopathy Orphanet:600 Vocal cord and pharyngeal distal myopathy Orphanet:600 vocal cord and pharyngeal distal myopathy Orphanet:600 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans Orphanet:99734 Myotonia fluctuans OMIM:608390 Myotonia Fluctuans Orphanet:99734 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens Orphanet:99735 Myotonia permanens OMIM:608390 Myotonia Permanens Orphanet:99735 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Orphanet:636 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease Orphanet:636 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 MONDO:0018993 Charcot-Marie-Tooth disease type 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 MONDO:0018994 Charcot-Marie-Tooth disease type X oio:hasExactSynonym oio:hasRelatedSynonym X-linked Charcot-Marie-Tooth disease Orphanet:64747 X-linked Charcot-Marie-Tooth disease Orphanet:64747 X-linked Charcot-Marie-Tooth disease Orphanet:64747 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical SCAR1 Orphanet:64753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1316,16 +1027,12 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym oio:hasRelatedSyno MONDO:0019060 bone neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rare bone tumor rare bone tumor Rare bone tumor Orphanet:68411 Rare bone tumor Orphanet:68411 rare bone tumor Orphanet:68411 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile duct cancer Orphanet:70567 Cholangiocarcinoma Orphanet:70567 bile duct cancer Orphanet:70567 MONDO:0019128 mullerian aplasia oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia Orphanet:73217 Müllerian aplasia Orphanet:73217 Müllerian aplasia Orphanet:73217 -MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin and heme metabolism disorder of porphyrin and heme metabolism Disorder of porphyrin and heme metabolism Orphanet:309813 Disorder of porphyrin and heme metabolism DOID:13268 disorder of porphyrin and heme metabolism Orphanet:309813 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria porphyria Porphyria Orphanet:738 Porphyria DOID:13268 porphyria Orphanet:738 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein C deficiency severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Orphanet:275761 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency Orphanet:275761 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS Orphanet:754 Androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS Orphanet:754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Orphanet:376 Gordon syndrome NCIT:C123252 Gordon syndrome Orphanet:376 MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid and other organic acid metabolism disorder of amino acid and other organic acid metabolism Disorder of amino acid and other organic acid metabolism Orphanet:79062 Disorder of amino acid and other organic acid metabolism Orphanet:79062 disorder of amino acid and other organic acid metabolism Orphanet:79062 MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary inclusion body myopathy type 3 Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome GARD:0009494 Hereditary inclusion body myopathy type 3 Orphanet:79091 -MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym MFS Orphanet:558 Marfan syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:MFS MFS Orphanet:558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of carbohydrate metabolism disorder of carbohydrate metabolism Disorder of carbohydrate metabolism Orphanet:79161 Disorder of carbohydrate metabolism Orphanet:79161 disorder of carbohydrate metabolism Orphanet:79161 MONDO:0019216 inborn disorder of amino acid transport oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid absorption and transport disorder of amino acid absorption and transport Disorder of amino acid absorption and transport Orphanet:79166 Disorder of amino acid absorption and transport Orphanet:79166 disorder of amino acid absorption and transport Orphanet:79166 MONDO:0019218 inborn disorder of bile acid synthesis oio:hasExactSynonym oio:hasRelatedSynonym disorder of bile acid synthesis disorder of bile acid synthesis Disorder of bile acid synthesis Orphanet:79168 Disorder of bile acid synthesis Orphanet:79168 disorder of bile acid synthesis Orphanet:79168 @@ -1337,7 +1044,6 @@ MONDO:0019229 inborn disorder of ketolysis oio:hasExactSynonym oio:hasBroadSynon MONDO:0019230 inborn disorder of ornithine or proline metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of ornithine or proline metabolism disorder of ornithine or proline metabolism Disorder of ornithine or proline metabolism Orphanet:79185 Disorder of ornithine or proline metabolism Orphanet:79185 disorder of ornithine or proline metabolism Orphanet:79185 MONDO:0019231 inborn disorder of pentose phosphate metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pentose phosphate metabolism disorder of pentose phosphate metabolism Disorder of pentose phosphate metabolism Orphanet:79186 Disorder of pentose phosphate metabolism Orphanet:79186 disorder of pentose phosphate metabolism Orphanet:79186 MONDO:0019232 inborn disorder of peptide metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of peptide metabolism disorder of peptide metabolism Disorder of peptide metabolism Orphanet:79187 Disorder of peptide metabolism Orphanet:79187 disorder of peptide metabolism Orphanet:79187 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome cerebrohepatorenal syndrome Cerebrohepatorenal syndrome Orphanet:912 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome Orphanet:912 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of phenylalanin or tyrosine metabolism disorder of phenylalanin or tyrosine metabolism Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 disorder of phenylalanin or tyrosine metabolism Orphanet:79190 MONDO:0019236 inborn disorder of purine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine metabolism disorder of purine metabolism Disorder of purine metabolism Orphanet:79191 Disorder of purine metabolism Orphanet:79191 disorder of purine metabolism Orphanet:79191 MONDO:0019237 inborn disorder of pyridoxine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pyridoxine metabolism disorder of pyridoxine metabolism Disorder of pyridoxine metabolism Orphanet:79192 Disorder of pyridoxine metabolism Orphanet:79192 disorder of pyridoxine metabolism Orphanet:79192 @@ -1350,22 +1056,16 @@ MONDO:0019250 inborn disorder of biogenic amine metabolism and transport oio:has MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine or pyrimidine metabolism disorder of purine or pyrimidine metabolism Disorder of purine or pyrimidine metabolism Orphanet:79224 Disorder of purine or pyrimidine metabolism Orphanet:79224 disorder of purine or pyrimidine metabolism Orphanet:79224 MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym oio:hasRelatedSynonym isolated nail anomaly isolated nail anomaly Isolated nail anomaly Orphanet:79369 Isolated nail anomaly Orphanet:79369 isolated nail anomaly Orphanet:79369 MONDO:0019303 premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym premature aging premature aging Premature aging Orphanet:79389 Premature aging Orphanet:79389 premature aging Orphanet:79389 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis Orphanet:313 Lamellar ichthyosis DOID:1699 lamellar ichthyosis Orphanet:313 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym oio:hasBroadSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79456 DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma Orphanet:79490 Microcystic lymphatic malformation Orphanet:79490 capillary lymphangioma Orphanet:79490 MONDO:0019357 congenital narrowing of cervical spinal canal oio:hasExactSynonym oio:hasRelatedSynonym congenital cervical spinal stenosis congenital cervical spinal stenosis Congenital cervical spinal stenosis Orphanet:831 Congenital cervical spinal stenosis Orphanet:831 congenital cervical spinal stenosis Orphanet:831 -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy reflex sympathetic dystrophy Reflex sympathetic dystrophy Orphanet:99995 Complex regional pain syndrome type 1 GARD:0004647 reflex sympathetic dystrophy Orphanet:99995 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto encephalitis Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Orphanet:83601 Hashimoto encephalitis Orphanet:83601 MONDO:0019386 progressive rubella panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym rubella panencephalitis rubella panencephalitis Rubella panencephalitis Orphanet:83616 Rubella panencephalitis rubella panencephalitis Orphanet:83616 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma Orphanet:100002 Extraneural perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma Orphanet:100002 -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary systemic amyloidosis Orphanet:314701 Primary systemic amyloidosis GARD:0005797 primary systemic amyloidosis Orphanet:314701 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features http://purl.obolibrary.org/obo/OMO_0003005 acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed phenotype acute leukemia Orphanet:530995 Mixed phenotype acute leukemia Orphanet:86851 mixed phenotype acute leukemia Orphanet:530995 MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasRelatedSynonym familial progressive cardiac conduction defect familial progressive cardiac conduction defect Familial progressive cardiac conduction defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871 familial progressive cardiac conduction defect Orphanet:871 MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect hereditary bundle branch defect Hereditary bundle branch defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871, DOID:0111073 hereditary bundle branch defect Orphanet:871 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym isolated genetic deafness isolated genetic deafness Isolated genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 isolated genetic deafness Orphanet:87884 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym non-syndromic genetic deafness non-syndromic genetic deafness Non-syndromic genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 non-syndromic genetic deafness Orphanet:87884 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X Orphanet:99226 Monosomy X DOID:3491, NCIT:C36630 monosomy X Orphanet:99226 MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome retinitis pigmentosa-deafness syndrome Retinitis pigmentosa-deafness syndrome Orphanet:886 Usher syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome Orphanet:886 MONDO:0019512 congenital heart malformation oio:hasExactSynonym oio:hasRelatedSynonym rare congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation Rare congenital non-syndromic heart malformation Orphanet:88991 Rare congenital non-syndromic heart malformation Orphanet:88991 rare congenital non-syndromic heart malformation Orphanet:88991 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Hemolytic anemia due to glutathione reductase deficiency Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency OMIM:618660 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Orphanet:90030 @@ -1382,16 +1082,11 @@ MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarro MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive isolated sensorineural deafness type DFNB autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive non-syndromic neurosensory deafness type DFNB autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma Orphanet:913 Zollinger-Ellison syndrome Orphanet:913 gastrinoma Orphanet:913 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection Orphanet:229 annuloaortic ectasia Orphanet:229 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym cystic medial necrosis of aorta cystic medial necrosis of aorta Cystic medial necrosis of aorta Orphanet:229 Familial aortic dissection Orphanet:229 cystic medial necrosis of aorta Orphanet:229 MONDO:0019691 short rib dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ciliopathies with major skeletal involvement ciliopathies with major skeletal involvement Ciliopathies with major skeletal involvement Orphanet:93426 Ciliopathies with major skeletal involvement Orphanet:93426 ciliopathies with major skeletal involvement Orphanet:93426 -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism acromesomelic dwarfism Acromesomelic dwarfism Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 acromesomelic dwarfism Orphanet:968 MONDO:0019698 bent bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym campomelic dysplasia and related disorders campomelic dysplasia and related disorders Campomelic dysplasia and related disorders Orphanet:93439 Campomelic dysplasia and related disorders Orphanet:93439 campomelic dysplasia and related disorders Orphanet:93439 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Orphanet:93685 Unicentric Castleman disease GARD:0006005 Unicentric Castleman disease Orphanet:93685 MONDO:0019788 non-secreting paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym non-functioning paraganglioma non-functioning paraganglioma Non-functioning paraganglioma Orphanet:94080 Non-functioning paraganglioma Orphanet:94080 non-functioning paraganglioma Orphanet:94080 MONDO:0019795 acalvaria oio:hasExactSynonym oio:hasRelatedSynonym primary acalvaria primary acalvaria Primary acalvaria Orphanet:945 Acalvaria GARD:0000361 primary acalvaria Orphanet:945 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Orphanet:537 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome Orphanet:537 MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasRelatedSynonym Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 8 Orphanet:96061 Mosaic trisomy 8 GARD:0005359 Mosaic trisomy chromosome 8 Orphanet:96061 MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8 mosaicism trisomy 8 mosaicism Trisomy 8 mosaicism Orphanet:96061 Mosaic trisomy 8 GARD:0005359 trisomy 8 mosaicism Orphanet:96061 @@ -1419,7 +1114,6 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect Orphanet:98722 Atrioventricular septal defect Orphanet:98722 atrioventricular septal defect Orphanet:98722 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD Orphanet:98722 Atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD Orphanet:98722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym oio:hasRelatedSynonym FFEVF Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604364, Orphanet:98820 FFEVF Orphanet:98820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia Orphanet:517 Acute myelomonocytic leukemia GARD:0000536 acute myelomonocytic leukemia Orphanet:517 MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP Orphanet:98842 Lymphomatoid papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP LYP Orphanet:98842 MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy oio:hasExactSynonym oio:hasNarrowSynonym EDMD2 Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:98853 EDMD2 Orphanet:98853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020344 postsynaptic congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym postsynaptic congenital myasthenic syndromes postsynaptic congenital myasthenic syndromes Postsynaptic congenital myasthenic syndromes Orphanet:98913 Postsynaptic congenital myasthenic syndromes Orphanet:98913 postsynaptic congenital myasthenic syndromes Orphanet:98913 @@ -1433,16 +1127,12 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020512 precursor T-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym T-ALL Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99861 T-ALL Orphanet:99861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma Orphanet:99914 Gynandroblastoma GARD:0009665 Gynandroblastoma Orphanet:99914 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary oio:hasExactSynonym oio:hasRelatedSynonym malignant Sertoli-Leydig cell tumor of the ovary malignant Sertoli-Leydig cell tumor of the ovary Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome Orphanet:231108 Rhabdoid tumor predisposition syndrome DOID:2129 rhabdoid tumor predisposition syndrome Orphanet:231108 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MCKD Mckd MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000 MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354 Capillary Malformation-Arteriovenous Malformation Orphanet:137667 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome Orphanet:915 Aarskog-Scott syndrome Aarskog syndrome Orphanet:915 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome Orphanet:915 Aarskog-Scott syndrome Aarskog-Scott syndrome Orphanet:915 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia faciogenital dysplasia Faciogenital dysplasia Orphanet:915 Aarskog-Scott syndrome faciogenital dysplasia Orphanet:915 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant limb-girdle muscular dystrophy type 1D autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 Orphanet:34516 autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1D limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 GARD:0012528 limb-girdle muscular dystrophy type 1D Orphanet:34516 -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia Orphanet:306773 Hyperekplexia Orphanet:3197 hyperekplexia Orphanet:306773 MONDO:0021227 adrenal gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adrenal/paraganglial tumor adrenal/paraganglial tumor Adrenal/paraganglial tumor Orphanet:100091 Adrenal/paraganglial tumor adrenal/paraganglial tumor Orphanet:100091 MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma Orphanet:94 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytoma Orphanet:94 MONDO:0023171 foix chavany Marie syndrome oio:hasExactSynonym oio:hasRelatedSynonym bilateral anterior opercular syndrome bilateral anterior opercular syndrome Bilateral anterior opercular syndrome Orphanet:2048 Foix-Chavany-Marie syndrome MESH:C537069 bilateral anterior opercular syndrome Orphanet:2048 @@ -1454,13 +1144,7 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NEN Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 GEP-NEN Orphanet:100092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym serotonin-producing neuroendocrine tumor of pancreas serotonin-producing neuroendocrine tumor of pancreas Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin deciduous skin Deciduous skin Orphanet:817 Peeling skin syndrome OMIM:270300 deciduous skin Orphanet:817 -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Duncan disease Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 Duncan disease Orphanet:2442 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Purtilo syndrome Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 Purtilo syndrome Orphanet:2442 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP Xlp XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Lyp Lyp LyP Orphanet:98842 Lymphomatoid papulosis OMIM:308240 Lyp Orphanet:98842 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD Atld ATLD Orphanet:251347 Ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD Orphanet:251347 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection OMIM:607086 annuloaortic ectasia Orphanet:229 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasNarrowSynonym diffuse-type GCT diffuse-type GCT Diffuse-type GCT Orphanet:66627 Tenosynovial giant cell tumor Orphanet:66627 diffuse-type GCT Orphanet:66627 @@ -1484,7 +1168,6 @@ MONDO:0034145 oculocerebrodental syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym oio:hasRelatedSynonym DIDOD Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617991 DIDOD Orphanet:589905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0037149 HSD10 disease, atypical type oio:hasExactSynonym oio:hasBroadSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 MONDO:0043143 microphthalmia microtia fetal akinesia oio:hasExactSynonym oio:hasRelatedSynonym Thomas-Jewett-Raines syndrome Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome GARD:0003650 Thomas-Jewett-Raines syndrome Orphanet:2547 -MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym FS Orphanet:1305 Feingold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007353 FS Orphanet:1305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym endemic pemphigus foliaceus endemic pemphigus foliaceus Endemic pemphigus foliaceus Orphanet:636955 Endemic pemphigus foliaceus GARD:0007353, MESH:C535551, Orphanet:636955 endemic pemphigus foliaceus Orphanet:636955 MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym fogo selvagem fogo selvagem Fogo selvagem Orphanet:636955 Endemic pemphigus foliaceus fogo selvagem Orphanet:636955 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym Masson's tumor Orphanet:673525 Intravascular papillary endothelial hyperplasia GARD:0010733 Masson's tumor Orphanet:673525 @@ -1499,7 +1182,6 @@ MONDO:0044710 lip and oral cavity squamous cell carcinoma oio:hasExactSynonym oi MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-De Vries syndrome Gabriele-De Vries syndrome Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 Gabriele-De Vries syndrome Orphanet:506358 MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 Gabriele-de Vries syndrome Orphanet:506358 MONDO:0044740 salivary gland squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of salivary glands squamous cell carcinoma of salivary glands Squamous cell carcinoma of salivary glands Orphanet:500481 Squamous cell carcinoma of salivary glands Orphanet:500481 squamous cell carcinoma of salivary glands Orphanet:500481 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of liver and intrahepatic biliary tract Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract NCIT:C3828 carcinoma of liver and intrahepatic biliary tract Orphanet:424936 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant congenital melanocytic nevus Orphanet:626 Large congenital melanocytic nevus GARD:0002469, Orphanet:626 giant congenital melanocytic nevus Orphanet:626 MONDO:0054680 epiphyseal dysplasia, multiple, 7 oio:hasExactSynonym oio:hasRelatedSynonym EDM7 Orphanet:647676 Multiple epiphyseal dysplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617719 EDM7 Orphanet:647676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 CMT2DD Orphanet:521414 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1517,11 +1199,8 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:ha MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease NCIT:C113814 autoimmune adrenalitis Orphanet:85138 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal non-kinesigenic dyskinesia paroxysmal non-kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 paroxysmal non-kinesigenic dyskinesia Orphanet:98810 MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Orphanet:1519 SPECC1L-related hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome Orphanet:1519 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome Orphanet:99803 Haddad syndrome OMIM:209880 Haddad syndrome Orphanet:99803 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Ondine-Hirschsprung disease Orphanet:99803 Haddad syndrome OMIM:209880 Ondine-Hirschsprung disease Orphanet:99803 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids hereditary diffuse leukoencephalopathy with spheroids Hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym HDLS Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:313808, MONDO:Lexical, OMIM:221820 HDLS Orphanet:313808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stüve-Wiedemann syndrome Orphanet:3206 Stüve-Wiedemann syndrome Orphanet:3206 Stüve-Wiedemann syndrome Orphanet:3206 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STWS Stws STWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 STWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1529,7 +1208,6 @@ MONDO:0800438 developmental delay with short stature, dysmorphic facial features MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay-short stature-dysmorphic features-sparse hair syndrome developmental delay-short stature-dysmorphic features-sparse hair syndrome Developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Orphanet:459061 developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH syndrome Orphanet:135 CACH syndrome Orphanet:135 CACH syndrome Orphanet:135 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter Orphanet:135 CACH syndrome OMIM:603896 leukoencephalopathy with vanishing WHITE matter Orphanet:135 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Orphanet:99854 Cree leukoencephalopathy DOID:0060868, GARD:0000231 Cree leukoencephalopathy Orphanet:99854 MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome Orphanet:51636 WHIM syndrome OMIM:193670, MONDO:Lexical WHIM syndrome Orphanet:51636 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome OMIM:212720 MARTSOLF syndrome Orphanet:1387 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome Orphanet:1387 Martsolf syndrome Orphanet:1387 diff --git a/src/ontology/reports/sync-synonym/sync-synonyms.confirmed.robot.tsv b/src/ontology/reports/sync-synonym/sync-synonyms.confirmed.robot.tsv index 2d737caf..1fae0ccd 100644 --- a/src/ontology/reports/sync-synonym/sync-synonyms.confirmed.robot.tsv +++ b/src/ontology/reports/sync-synonym/sync-synonyms.confirmed.robot.tsv @@ -13,7 +13,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym IGHD DOID:0060870 isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IGHD DOID:0060870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000127 geleophysic dysplasia oio:hasExactSynonym geleophysic dwarfism DOID:0111724 geleophysic dysplasia geleophysic dwarfism DOID:0111724 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 DOID:0080141 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym Walker-Warburg syndrome DOID:0050560 Walker-Warburg syndrome Walker-Warburg syndrome DOID:0050560 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome hard syndrome DOID:0050560 @@ -32,7 +31,6 @@ MONDO:0000248 dengue shock syndrome oio:hasExactSynonym DSS DOID:0050125 deng MONDO:0000250 osmotic diarrheal disease oio:hasExactSynonym osmotic diarrhea DOID:0050130 osmotic diarrhea osmotic diarrhea DOID:0050130 MONDO:0000255 subcutaneous mycosis oio:hasExactSynonym subcutaneous mycosis DOID:0050135 subcutaneous mycosis subcutaneous mycosis DOID:0050135 MONDO:0000265 aspiration pneumonia oio:hasExactSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia aspiration pneumonia DOID:0050152 -MONDO:0000265 aspiration pneumonia oio:hasExactSynonym Mendelson's syndrome Mendelson's syndrome Mendelson's Syndrome DOID:3240 aspiration pneumonitis Mendelson's syndrome DOID:3240 MONDO:0000270 lower respiratory tract disorder oio:hasExactSynonym lower respiratory tract disease DOID:0050161 lower respiratory tract disease lower respiratory tract disease DOID:0050161 MONDO:0000273 Kunjin virus infectous disease oio:hasExactSynonym Kunjin encephalitis DOID:0050174 Kunjin encephalitis Kunjin encephalitis DOID:0050174 MONDO:0000288 polycystic echinococcosis oio:hasExactSynonym human polycystic hydatid disease DOID:0050218 polycystic echinococcosis human polycystic hydatid disease DOID:0050218 @@ -59,9 +57,6 @@ MONDO:0000330 endemic typhus oio:hasExactSynonym toulon typhus DOID:0050481 e MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus DOID:0050481 endemic typhus urban typhus DOID:0050481 MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus of Malaya urban typhus of Malaya Urban Typhus of Malaya DOID:0050481 endemic typhus urban typhus of Malaya DOID:0050481 MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus shop typhus DOID:0050481 -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic flea-borne typhus DOID:11256 typhus endemic flea-borne typhus DOID:11256 -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus endemic typhus fever DOID:11256 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:11256 typhus shop typhus DOID:11256 MONDO:0000331 Rickettsia helvetica spotted fever oio:hasExactSynonym aneruptive fever DOID:0050484 aneruptive fever aneruptive fever DOID:0050484 MONDO:0000332 sennetsu fever oio:hasExactSynonym sennetsu fever DOID:0050485 sennetsu fever sennetsu fever DOID:0050485 MONDO:0000337 exanthema subitum oio:hasExactSynonym roseola Infantum roseola Infantum Roseola Infantum DOID:0050495 exanthema subitum roseola Infantum DOID:0050495 @@ -86,7 +81,6 @@ MONDO:0000387 hypochromic microcytic anemia oio:hasExactSynonym hypochromic mic MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym vitelliform macular dystrophy DOID:0050661 vitelliform macular dystrophy vitelliform macular dystrophy DOID:0050661 MONDO:0000395 alcohol-related birth defect oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000402 small cell carcinoma oio:hasExactSynonym small cell carcinoma DOID:0050685 small cell carcinoma small cell carcinoma DOID:0050685 -MONDO:0000402 small cell carcinoma oio:hasExactSynonym oat cell carcinoma DOID:5411 lung oat cell carcinoma oat cell carcinoma DOID:5411 MONDO:0000405 anal canal cancer oio:hasExactSynonym anal canal cancer DOID:0050688 anal canal cancer anal canal cancer DOID:0050688 MONDO:0000411 electroclinical syndrome oio:hasExactSynonym electro-clinical syndrome DOID:0050701 electroclinical syndrome electro-clinical syndrome DOID:0050701 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym mature T-cell and NK-cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma mature T-cell and NK-cell lymphoma DOID:0050743 @@ -143,9 +137,6 @@ MONDO:0000544 mucosal melanoma oio:hasExactSynonym mucosal melanoma DOID:0050 MONDO:0000545 sublingual gland adenoid cystic carcinoma oio:hasExactSynonym sublingual gland adenoid cystic carcinoma DOID:0050930 sublingual gland adenoid cystic carcinoma sublingual gland adenoid cystic carcinoma DOID:0050930 MONDO:0000548 ovarian clear cell cancer oio:hasExactSynonym clear-cell ovarian carcinoma DOID:0050934 ovarian clear cell carcinoma clear-cell ovarian carcinoma DOID:0050934 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal pheochromocytoma DOID:0050936 extra-adrenal pheochromocytoma extra-adrenal pheochromocytoma DOID:0050936 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma lobular carcinoma DOID:3457 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular carcinoma of breast DOID:3457 invasive lobular carcinoma lobular carcinoma of breast DOID:3457 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma lobular carcinoma of the breast DOID:3457 MONDO:0000572 recombinase activating gene 1 deficiency oio:hasExactSynonym recombinase activating gene 1 deficiency DOID:0060011 recombinase activating gene 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL recombinase activating gene 1 deficiency DOID:0060011 MONDO:0000573 recombinase activating gene 2 deficiency oio:hasExactSynonym recombinase activating gene 2 deficiency DOID:0060012 recombinase activating gene 2 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL recombinase activating gene 2 deficiency DOID:0060012 MONDO:0000583 immunoglobulin beta deficiency oio:hasRelatedSynonym IgB deficiency DOID:0060026 immunoglobulin beta deficiency IgB deficiency DOID:0060026 @@ -153,7 +144,6 @@ MONDO:0000591 intrinsic cardiomyopathy oio:hasExactSynonym intrinsic cardiomyop MONDO:0000592 specific developmental disorder oio:hasExactSynonym specific developmental disorder DOID:0060038 specific developmental disorder specific developmental disorder DOID:0060038 MONDO:0000594 pervasive developmental disorder oio:hasExactSynonym pervasive development disorder DOID:0060040 pervasive developmental disorder pervasive development disorder DOID:0060040 MONDO:0000596 paraphilic disorder oio:hasExactSynonym paraphilia disorder DOID:0060044 paraphilia disorder paraphilia disorder DOID:0060044 -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym hypersensitivity DOID:1205 allergic disease hypersensitivity DOID:1205 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma cutaneous T cell lymphoma DOID:0060061 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T-cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma cutaneous T-cell lymphoma DOID:0060061 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 @@ -169,8 +159,6 @@ MONDO:0000627 benign endocrine neoplasm oio:hasExactSynonym endocrine organ ben MONDO:0000628 central nervous system organ benign neoplasm oio:hasExactSynonym central nervous system benign neoplasm DOID:0060090 central nervous system benign neoplasm central nervous system benign neoplasm DOID:0060090 MONDO:0000636 musculoskeletal system benign neoplasm oio:hasExactSynonym musculoskeletal system benign neoplasm DOID:0060099 musculoskeletal system benign neoplasm musculoskeletal system benign neoplasm DOID:0060099 MONDO:0000637 musculoskeletal system cancer oio:hasExactSynonym musculoskeletal system cancer DOID:0060100 musculoskeletal system cancer musculoskeletal system cancer DOID:0060100 -MONDO:0000639 cartilage cancer oio:hasExactSynonym cartilaginous cancer cartilaginous cancer Cartilaginous cancer DOID:3371 chondrosarcoma cartilaginous cancer DOID:3371 -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym central nervous system primitive neuroectodermal neoplasm DOID:0060103 central nervous system embryonal tumor central nervous system primitive neuroectodermal neoplasm DOID:0060103 MONDO:0000645 fallopian tube benign neoplasm oio:hasExactSynonym fallopian tube benign neoplasm DOID:0060111 fallopian tube benign neoplasm fallopian tube benign neoplasm DOID:0060111 MONDO:0000647 benign vaginal neoplasm oio:hasExactSynonym vaginal benign neoplasm DOID:0060114 vaginal benign neoplasm vaginal benign neoplasm DOID:0060114 @@ -179,7 +167,6 @@ MONDO:0000649 sensory system cancer oio:hasExactSynonym sensory system cancer MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym connective tissue benign neoplasm DOID:0060123 connective tissue benign neoplasm connective tissue benign neoplasm DOID:0060123 MONDO:0000659 delta-heavy chain disease oio:hasExactSynonym delta chain disease DOID:0060129 delta chain disease delta chain disease DOID:0060129 MONDO:0000662 amusia oio:hasExactSynonym receptive amusia DOID:0060132 amusia receptive amusia DOID:0060132 -MONDO:0000665 apraxia oio:hasExactSynonym dyspraxia dyspraxia Dyspraxia DOID:4090 agnosia dyspraxia DOID:4090 MONDO:0000671 finger agnosia oio:hasExactSynonym finger agnosia DOID:0060141 finger agnosia finger agnosia DOID:0060141 MONDO:0000679 social emotional agnosia oio:hasExactSynonym expressive agnosia DOID:0060149 social emotional agnosia expressive agnosia DOID:0060149 MONDO:0000680 astereognosia oio:hasExactSynonym astereognosia DOID:0060150 astereognosia astereognosia DOID:0060150 @@ -241,7 +228,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym Salmonella infection DOID:006 MONDO:0000831 thrombotic disease oio:hasExactSynonym thrombosis DOID:0060903 thrombosis thrombosis DOID:0060903 MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym caisson disease of bone caisson disease of bone Caisson disease of bone DOID:0080018 dysbaric osteonecrosis caisson disease of bone DOID:0080018 MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym DON DOID:0080018 dysbaric osteonecrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DON DOID:0080018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone DOID:1858 McCune Albright syndrome fibrous dysplasia of bone DOID:1858 MONDO:0000849 fibrogenesis imperfecta ossium oio:hasExactSynonym baker's disease baker's disease Baker's disease DOID:0080040 fibrogenesis imperfecta ossium baker's disease DOID:0080040 MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta DOID:0080073 spina bifida occulta spina bifida occulta DOID:0080073 MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia Childhood Acute Lymphoblastic Leukemia DOID:0080144 childhood acute lymphocytic leukemia childhood acute lymphoblastic leukemia DOID:0080144 @@ -280,8 +266,6 @@ MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym HS2 DOID:01 MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym SPH2 DOID:0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPH2 DOID:0110917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL 1 DOID:0111035 CADASIL 1 CADASIL 1 DOID:0111035 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 CADASIL 1 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym hereditary multi-infarct dementia DOID:13945 CADASIL hereditary multi-infarct dementia DOID:13945 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL DOID:13945 CADASIL http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CADASIL DOID:13945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000916 intestinal infectious disease oio:hasExactSynonym bacterial enteritis DOID:100 intestinal infectious disease bacterial enteritis DOID:100 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of Vater malignant tumour of ampulla of Vater malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of ampulla of Vater DOID:10020 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of ampulla of vater DOID:10020 @@ -517,7 +501,6 @@ MONDO:0001118 Queensland tick typhus oio:hasRelatedSynonym North Queensland tic MONDO:0001119 premature menopause oio:hasExactSynonym menopause - premature menopause - premature Menopause - premature DOID:10787 premature menopause menopause - premature DOID:10787 MONDO:0001119 premature menopause oio:hasExactSynonym menopause praecox menopause praecox Menopause praecox DOID:10787 premature menopause menopause praecox DOID:10787 MONDO:0001119 premature menopause oio:hasExactSynonym premature menopause DOID:10787 premature menopause premature menopause DOID:10787 -MONDO:0001119 premature menopause oio:hasExactSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency premature ovarian failure DOID:5426 MONDO:0001122 chronic maxillary sinusitis oio:hasExactSynonym chronic antritis DOID:10792 chronic maxillary sinusitis chronic antritis DOID:10792 MONDO:0001123 chronic sphenoidal sinusitis oio:hasExactSynonym sphenoidal sinus-chr. sphenoidal sinus-chr. Sphenoidal sinus-chr. DOID:10793 chronic sphenoidal sinusitis sphenoidal sinus-chr. DOID:10793 MONDO:0001126 gastric ulcer oio:hasExactSynonym gastric ulcer DOID:10808 gastric ulcer gastric ulcer DOID:10808 @@ -525,7 +508,6 @@ MONDO:0001127 tibialis tendinitis oio:hasExactSynonym tibialis tendinitis DOI MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nasal cavities DOID:10811 nasal cavity cancer malignant neoplasm of nasal cavities DOID:10811 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity DOID:10811 nasal cavity cancer malignant tumor of the nasal cavity DOID:10811 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer DOID:10811 nasal cavity cancer nasal cavity cancer DOID:10811 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma cancer of nasal cavity DOID:4931 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma DOID:10812 nasal cavity olfactory neuroblastoma nasal cavity olfactory neuroblastoma DOID:10812 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory neuroblastoma of the nasal cavity DOID:10812 nasal cavity olfactory neuroblastoma olfactory neuroblastoma of the nasal cavity DOID:10812 MONDO:0001130 nasal cavity lymphoma oio:hasExactSynonym lymphoma of nasal cavity DOID:10813 nasal cavity lymphoma lymphoma of nasal cavity DOID:10813 @@ -584,7 +566,6 @@ MONDO:0001155 gastrojejunal ulcer oio:hasExactSynonym chronic gastrojejunal ulc MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder DOID:10930 borderline personality disorder borderline personality disorder DOID:10930 MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCPD DOID:10932 obsessive-compulsive personality disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCPD DOID:10932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001158 obsessive-compulsive personality disorder oio:hasRelatedSynonym anankastic personality disorder anankastic personality disorder Anankastic personality disorder DOID:10932 obsessive-compulsive personality disorder anankastic personality disorder DOID:10932 -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative identity disorder DOID:10934 multiple personality disorder dissociative identity disorder DOID:10934 MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative disease DOID:10935 dissociative disorder dissociative disease DOID:10935 MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative reaction DOID:10935 dissociative disorder dissociative reaction DOID:10935 @@ -685,7 +666,6 @@ MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym dissem MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym DIC DOID:11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIC DOID:11247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K DOID:11249 vitamin K deficiency bleeding deficiency of vitamin K DOID:11249 MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym vitamin K deficiency DOID:11249 vitamin K deficiency bleeding vitamin K deficiency DOID:11249 -MONDO:0001246 typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus shop typhus DOID:0050481 MONDO:0001246 typhus oio:hasExactSynonym typhus fever typhus fever Typhus fever DOID:11256 typhus typhus fever DOID:11256 MONDO:0001246 typhus oio:hasRelatedSynonym European typhus DOID:11256 typhus European typhus DOID:11256 MONDO:0001246 typhus oio:hasRelatedSynonym Mexican typhus DOID:11256 typhus Mexican typhus DOID:11256 @@ -913,7 +893,6 @@ MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym tumor of frontal lobe t MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn syndrome DOID:12028 Conn's syndrome Conn syndrome DOID:12028 MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn's syndrome DOID:12028 Conn's syndrome Conn's syndrome DOID:12028 MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary aldosteronism DOID:12028 Conn's syndrome primary aldosteronism DOID:12028 -MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism primary hyperaldosteronism DOID:446 MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym mediastinum neurofibroma DOID:12064 mediastinum neurofibroma mediastinum neurofibroma DOID:12064 MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym neurofibroma of mediastinum neurofibroma of mediastinum Neurofibroma of mediastinum DOID:12064 mediastinum neurofibroma neurofibroma of mediastinum DOID:12064 MONDO:0001427 Dieulafoy lesion oio:hasExactSynonym Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 Dieulafoy lesion Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 @@ -1019,7 +998,6 @@ MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym acute alcoholic liver dis MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic Hepatitis alcoholic Hepatitis alcoholic hepatitis DOID:12351 alcoholic hepatitis alcoholic Hepatitis DOID:12351 MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic hepatitis DOID:12351 alcoholic hepatitis alcoholic hepatitis DOID:12351 MONDO:0001507 viral labyrinthitis oio:hasExactSynonym epidemic vertigo epidemic vertigo Epidemic vertigo DOID:12357 viral labyrinthitis epidemic vertigo DOID:12357 -MONDO:0001509 endocrine exophthalmos oio:hasExactSynonym thyroid eye disease DOID:0081120 Graves ophthalmopathy thyroid eye disease DOID:0081120 MONDO:0001510 lateral displacement of eye oio:hasExactSynonym lateral displacement of globe lateral displacement of globe Lateral displacement of globe DOID:12360 lateral displacement of eye lateral displacement of globe DOID:12360 MONDO:0001512 intermittent proptosis oio:hasExactSynonym intermittent exophthalmos intermittent exophthalmos Intermittent exophthalmos DOID:12363 intermittent proptosis intermittent exophthalmos DOID:12363 MONDO:0001514 prolapse of urethra oio:hasExactSynonym urethrocele urethrocele Urethrocele DOID:12369 prolapse of urethra urethrocele DOID:12369 @@ -1190,7 +1168,6 @@ MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe pre-eclampsia, wi MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe preeclampsia DOID:13129 severe pre-eclampsia severe preeclampsia DOID:13129 MONDO:0001642 hordeolum externum oio:hasExactSynonym external stye DOID:13134 hordeolum externum external stye DOID:13134 MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 acute proliferative glomerulonephritis acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 -MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis post-streptococcal glomerulonephritis DOID:14064 MONDO:0001645 crescentic glomerulonephritis oio:hasExactSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis crescentic glomerulonephritis DOID:13139 MONDO:0001648 esophageal candidiasis oio:hasExactSynonym Candida esophagitis Candida esophagitis Candida Esophagitis DOID:13146 esophageal candidiasis Candida esophagitis DOID:13146 MONDO:0001648 esophageal candidiasis oio:hasExactSynonym candidal esophagitis candidal esophagitis Candidal esophagitis DOID:13146 esophageal candidiasis candidal esophagitis DOID:13146 @@ -1501,9 +1478,6 @@ MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock DOID:14115 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome DOID:14115 toxic shock syndrome toxic shock syndrome DOID:14115 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS DOID:14115 toxic shock syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TSS DOID:14115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001882 bacteriuria oio:hasExactSynonym bacteriuria DOID:1412 bacteriuria bacteriuria DOID:1412 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym purple toe syndrome DOID:1461 cholesterol embolism purple toe syndrome DOID:1461 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym trash foot DOID:1461 cholesterol embolism trash foot DOID:1461 -MONDO:0001883 blue toe syndrome oio:hasExactSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism warfarin blue toe syndrome DOID:1461 MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve tumors VIth cranial nerve tumors VIth Cranial nerve tumors DOID:14125 abducens nerve neoplasm VIth cranial nerve tumors DOID:14125 MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym neoplasm of abducens nerve DOID:14125 abducens nerve neoplasm neoplasm of abducens nerve DOID:14125 MONDO:0001887 Allen-Masters syndrome oio:hasExactSynonym Broad ligament laceration syndrome DOID:14133 Masters-Allen syndrome Broad ligament laceration syndrome DOID:14133 @@ -1643,7 +1617,6 @@ MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasE MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym Dejerine-Thomas syndrome DOID:14784 olivopontocerebellar atrophy Dejerine-Thomas syndrome DOID:14784 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy WADIA-swami syndrome DOID:14784 -MONDO:0002026 candidiasis oio:hasExactSynonym thrush DOID:14262 oral candidiasis thrush DOID:14262 MONDO:0002027 avoidant personality disorder oio:hasExactSynonym anxious personality disorder DOID:1509 avoidant personality disorder anxious personality disorder DOID:1509 MONDO:0002028 personality disorder oio:hasExactSynonym character disorder DOID:1510 personality disorder character disorder DOID:1510 MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder DOID:1510 personality disorder personality disorder DOID:1510 @@ -1661,7 +1634,6 @@ MONDO:0002035 colon lymphoma oio:hasExactSynonym colonic lymphoma colonic lymph MONDO:0002036 penile disorder oio:hasExactSynonym penile disease DOID:1529 penile disease penile disease DOID:1529 MONDO:0002037 pleural disorder oio:hasExactSynonym disorder of pleura DOID:1532 pleural disease disorder of pleura DOID:1532 MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcinoma DOID:1542 head and neck carcinoma head and neck carcinoma DOID:1542 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym carcinoma of the head and neck DOID:5520 head and neck squamous cell carcinoma carcinoma of the head and neck DOID:5520 MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disease DOID:1561 cognitive disorder cognitive disease DOID:1561 MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder DOID:1561 cognitive disorder cognitive disorder DOID:1561 MONDO:0002039 cognitive disorder oio:hasRelatedSynonym organic mental disorder organic mental disorder Organic Mental disorder DOID:1561 cognitive disorder organic mental disorder DOID:1561 @@ -1819,12 +1791,10 @@ MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma oio:hasExactSynonym MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma DOID:1907 malignant fibrous histiocytoma fibroxanthosarcoma DOID:1907 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma DOID:1907 malignant fibrous histiocytoma malignant fibrous histiocytoma DOID:1907 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH DOID:1907 malignant fibrous histiocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MFH DOID:1907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma DOID:3354 fibrosarcoma of bone malignant fibroxanthoma DOID:3354 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal endodermal sinus neoplasm DOID:1910 vaginal yolk sac tumor vaginal endodermal sinus neoplasm DOID:1910 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac neoplasm vaginal yolk Sac neoplasm vaginal Yolk Sac neoplasm DOID:1910 vaginal yolk sac tumor vaginal yolk Sac neoplasm DOID:1910 MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac tumor vaginal yolk Sac tumor vaginal yolk sac tumor DOID:1910 vaginal yolk sac tumor vaginal yolk Sac tumor DOID:1910 MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym sex differentiation disease DOID:1923 disorder of sexual development sex differentiation disease DOID:1923 -MONDO:0002146 hypogonadism oio:hasExactSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism hypogonadotropism DOID:0090070 MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproductive system neoplasm DOID:193 reproductive organ cancer malignant reproductive system neoplasm DOID:193 MONDO:0002149 reproductive system cancer oio:hasExactSynonym reproductive organ cancer DOID:193 reproductive organ cancer reproductive organ cancer DOID:193 MONDO:0002152 intermittent squint oio:hasExactSynonym intermittent heterotropia intermittent heterotropia Intermittent heterotropia DOID:1942 intermittent squint intermittent heterotropia DOID:1942 @@ -2029,7 +1999,6 @@ MONDO:0002311 retinal vascular disorder oio:hasExactSynonym retina circulation MONDO:0002312 opportunistic mycosis oio:hasExactSynonym opportunistic mycoses opportunistic mycoses Opportunistic mycoses DOID:2473 opportunistic mycosis opportunistic mycoses DOID:2473 MONDO:0002314 chronic conjunctivitis oio:hasExactSynonym chronic conjunctivitis DOID:2475 chronic conjunctivitis chronic conjunctivitis DOID:2475 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy peripheral motor neuropathy Peripheral Motor Neuropathy DOID:2477 motor peripheral neuropathy peripheral motor neuropathy DOID:2477 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy DOID:683 motor neuritis peripheral motor neuropathy DOID:683 MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym central vestibular vertigo DOID:2479 central nervous system origin vertigo central vestibular vertigo DOID:2479 MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym vertigo of central origin vertigo of central origin Vertigo of central origin DOID:2479 central nervous system origin vertigo vertigo of central origin DOID:2479 MONDO:0002318 trachea leiomyoma oio:hasExactSynonym leiomyoma of the trachea leiomyoma of the trachea leiomyoma of the Trachea DOID:248 trachea leiomyoma leiomyoma of the trachea DOID:248 @@ -2073,7 +2042,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer DOID:2595 glo MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis DOID:2595 glottis cancer malignant tumor of glottis DOID:2595 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis malignant tumor of the Glottis DOID:2595 glottis cancer malignant tumor of the glottis DOID:2595 MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer DOID:2596 larynx cancer larynx cancer DOID:2596 -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx DOID:2600 laryngeal carcinoma cancer of larynx DOID:2600 MONDO:0002353 glottis neoplasm oio:hasExactSynonym glottis neoplasm DOID:2597 glottis neoplasm glottis neoplasm DOID:2597 MONDO:0002353 glottis neoplasm oio:hasExactSynonym neoplasm of glottis DOID:2597 glottis neoplasm neoplasm of glottis DOID:2597 MONDO:0002353 glottis neoplasm oio:hasExactSynonym tumor of the glottis tumor of the glottis tumor of the Glottis DOID:2597 glottis neoplasm tumor of the glottis DOID:2597 @@ -2123,7 +2091,6 @@ MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid choristoma dermoid chori MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst DOID:2658 dermoid cyst dermoid cyst DOID:2658 MONDO:0002378 dermoid cyst oio:hasExactSynonym mature cystic teratoma mature cystic teratoma Mature cystic teratoma DOID:2658 dermoid cyst mature cystic teratoma DOID:2658 MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid tumour dermoid tumour Dermoid tumour DOID:2658 dermoid cyst http://purl.obolibrary.org/obo/OMO_0003005 dermoid tumour DOID:2658 -MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst dermoid cyst Dermoid cyst DOID:5117 dermoid cyst of ovary dermoid cyst DOID:5117 MONDO:0002379 cystic teratoma oio:hasExactSynonym cystic teratoma DOID:2660 cystic teratoma cystic teratoma DOID:2660 MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial adenoma myoepithelial adenoma Myoepithelial adenoma DOID:2661 myoepithelioma myoepithelial adenoma DOID:2661 MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial neoplasm myoepithelial neoplasm Myoepithelial neoplasm DOID:2661 myoepithelioma myoepithelial neoplasm DOID:2661 @@ -2316,7 +2283,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis DOID:3087 gingivitis MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma DOID:3112 papillary adenocarcinoma papillary adenocarcinoma DOID:3112 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym kidney benign neoplasm DOID:3116 kidney benign neoplasm kidney benign neoplasm DOID:3116 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym renal and ureteral tumor DOID:3116 kidney benign neoplasm renal and ureteral tumor DOID:3116 -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym hepatobiliary tumors DOID:3117 hepatobiliary benign neoplasm hepatobiliary tumors DOID:3117 MONDO:0002515 hepatobiliary disorder oio:hasExactSynonym liver and biliary tract disease DOID:3118 hepatobiliary disease liver and biliary tract disease DOID:3118 MONDO:0002516 digestive system cancer oio:hasExactSynonym digestive system cancer DOID:3119 gastrointestinal system cancer digestive system cancer DOID:3119 MONDO:0002516 digestive system cancer oio:hasExactSynonym gastrointestinal system cancer DOID:3119 gastrointestinal system cancer gastrointestinal system cancer DOID:3119 @@ -2368,7 +2334,6 @@ MONDO:0002545 spinal cord disorder oio:hasRelatedSynonym myelopathy DOID:319 MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma DOID:3192 neurilemmoma neurilemmoma DOID:3192 MONDO:0002546 schwannoma oio:hasExactSynonym psammomatous schwannoma psammomatous schwannoma Psammomatous schwannoma DOID:3192 neurilemmoma psammomatous schwannoma DOID:3192 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma DOID:3192 neurilemmoma schwannoma DOID:3192 -MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm nerve sheath neoplasm DOID:1192 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath neoplasm of the nerve Sheath DOID:3193 peripheral nerve sheath neoplasm neoplasm of the nerve sheath DOID:3193 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym peripheral nerve sheath neoplasm DOID:3193 peripheral nerve sheath neoplasm peripheral nerve sheath neoplasm DOID:3193 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumour DOID:3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/OMO_0003005 nerve sheath tumour DOID:3193 @@ -2561,7 +2526,6 @@ MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym adult fibrosarcoma DOID: MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma DOID:3517 conventional fibrosarcoma conventional fibrosarcoma DOID:3517 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma DOID:3520 childhood fibrosarcoma childhood fibrosarcoma DOID:3520 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma DOID:3520 childhood fibrosarcoma pediatric fibrosarcoma DOID:3520 -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia DOID:2316 brain ischemia cerebral ischemia DOID:2316 MONDO:0002679 cerebral infarction oio:hasExactSynonym CVA - cerebral infarction CVA - cerebral infarction CVA - Cerebral infarction DOID:3526 cerebral infarction CVA - cerebral infarction DOID:3526 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarct cerebral infarct Cerebral infarct DOID:3526 cerebral infarction cerebral infarct DOID:3526 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction DOID:3526 cerebral infarction cerebral infarction DOID:3526 @@ -2920,7 +2884,6 @@ MONDO:0002930 kidney sarcoma oio:hasExactSynonym sarcoma of kidney DOID:4242 MONDO:0002934 intravascular angioleiomyoma oio:hasExactSynonym intravascular angioleiomyoma DOID:4266 intravascular angioleiomyoma intravascular angioleiomyoma DOID:4266 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal cell carcinoma of scrotum DOID:4278 scrotum basal cell carcinoma basal cell carcinoma of scrotum DOID:4278 MONDO:0002936 scrotum basal cell carcinoma oio:hasRelatedSynonym basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma basal cell carcinoma of the scrotum DOID:4278 -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer DOID:2513 basal cell carcinoma Rodent Ulcer DOID:2513 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym basal cell carcinoma, nodular basal cell carcinoma, nodular Basal cell carcinoma, nodular DOID:4280 nodular basal cell carcinoma basal cell carcinoma, nodular DOID:4280 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym circumscribed solid basal cell carcinoma circumscribed solid basal cell carcinoma Circumscribed solid basal cell carcinoma DOID:4280 nodular basal cell carcinoma circumscribed solid basal cell carcinoma DOID:4280 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma DOID:4280 nodular basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma DOID:4280 @@ -3584,8 +3547,6 @@ MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma DOID:5402 v MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma DOID:5403 microcystic adenoma microcystic adenoma DOID:5403 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult small cell carcinoma of the lung DOID:5414 lung occult small cell carcinoma occult small cell carcinoma of the lung DOID:5414 MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small cell carcinoma of the lung combined small cell carcinoma of the lung Combined small cell carcinoma of the lung DOID:5421 lung combined type small cell carcinoma combined small cell carcinoma of the lung DOID:5421 -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small and large cell lung cancer DOID:7081 lung mixed small cell and squamous cell carcinoma combined small and large cell lung cancer DOID:7081 -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma small cell and large cell carcinoma of the lung DOID:7081 MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym urinary bladder villous adenoma DOID:5427 urinary bladder villous adenoma urinary bladder villous adenoma DOID:5427 MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym villous adenoma of urinary bladder DOID:5427 urinary bladder villous adenoma villous adenoma of urinary bladder DOID:5427 MONDO:0003441 dystonic disorder oio:hasExactSynonym dystonia DOID:543 dystonia dystonia DOID:543 @@ -3686,7 +3647,6 @@ MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym choriocarcinoma of MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym testicular choriocarcinoma testicular choriocarcinoma testicular Choriocarcinoma DOID:5551 choriocarcinoma of the testis testicular choriocarcinoma DOID:5551 MONDO:0003509 pineal region choriocarcinoma oio:hasExactSynonym pineal choriocarcinoma pineal choriocarcinoma Pineal Choriocarcinoma DOID:5553 pineal region choriocarcinoma pineal choriocarcinoma DOID:5553 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym malignant germ cell tumor of testis DOID:5556 testicular malignant germ cell cancer malignant germ cell tumor of testis DOID:5556 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer testicular germ cell cancer DOID:5557 MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumor of mediastinum DOID:5560 mediastinal mesenchymal tumor soft tissue tumor of mediastinum DOID:5560 MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumour of mediastinum DOID:5560 mediastinal mesenchymal tumor http://purl.obolibrary.org/obo/OMO_0003005 soft tissue tumour of mediastinum DOID:5560 MONDO:0003513 gastric teratoma oio:hasExactSynonym gastric teratoma DOID:5561 gastric teratoma gastric teratoma DOID:5561 @@ -3707,8 +3667,6 @@ MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastri MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastric G-cell gastrin producing tumor DOID:5579 gastric gastrinoma gastric G-cell gastrin producing tumor DOID:5579 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor oio:hasExactSynonym pancreatic G-cell tumor DOID:5580 pancreatic gastrinoma pancreatic G-cell tumor DOID:5580 MONDO:0003528 Volkmann contracture oio:hasExactSynonym Volkmann's ischemic contracture DOID:5587 Volkmann contracture Volkmann's ischemic contracture DOID:5587 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma tubular apocrine adenoma DOID:3895 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym papillary eccrine adenoma DOID:5446 eccrine papillary adenoma papillary eccrine adenoma DOID:5446 MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym breast papillary carcinoma DOID:5592 breast papillary carcinoma breast papillary carcinoma DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym papillary carcinoma of the breast papillary carcinoma of the breast Papillary carcinoma of the breast DOID:5592 breast papillary carcinoma papillary carcinoma of the breast DOID:5592 MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym papillary carcinoma of the Thymus papillary carcinoma of the Thymus Papillary carcinoma of the Thymus DOID:5595 papillary thymic adenocarcinoma papillary carcinoma of the Thymus DOID:5595 @@ -3716,7 +3674,6 @@ MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym fallo MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma of the fallopian tube papillary adenocarcinoma of the fallopian tube Papillary adenocarcinoma of the fallopian tube DOID:5597 fallopian tube papillary adenocarcinoma papillary adenocarcinoma of the fallopian tube DOID:5597 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym acute Adult T-cell Leukemia-lymphoma acute Adult T-cell Leukemia-lymphoma Acute Adult T-cell Leukemia-Lymphoma DOID:5602 T-cell adult acute lymphocytic leukemia acute Adult T-cell Leukemia-lymphoma DOID:5602 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym adult precursor T lymphoblastic leukemia adult precursor T lymphoblastic leukemia adult Precursor T Lymphoblastic Leukemia DOID:5602 T-cell adult acute lymphocytic leukemia adult precursor T lymphoblastic leukemia DOID:5602 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia DOID:5603 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult ALL DOID:5604 adult acute lymphocytic leukemia adult ALL DOID:5604 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphocytic leukemia DOID:5604 adult acute lymphocytic leukemia adult acute lymphocytic leukemia DOID:5604 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphoid leukemia adult acute lymphoid leukemia adult acute lymphoid Leukemia DOID:5604 adult acute lymphocytic leukemia adult acute lymphoid leukemia DOID:5604 @@ -3860,7 +3817,6 @@ MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym esophageal ne MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumor of esophagus DOID:5784 esophageal neuroendocrine tumor neuroendocrine tumor of esophagus DOID:5784 MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumour of oesophagus DOID:5784 esophageal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 neuroendocrine tumour of oesophagus DOID:5784 MONDO:0003650 mixed hepatoblastoma oio:hasExactSynonym mixed epithelial and mesenchymal hepatoblastoma DOID:5789 mixed hepatoblastoma mixed epithelial and mesenchymal hepatoblastoma DOID:5789 -MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid urolithiasis DOID:0080654 uric acid urolithiasis uric acid urolithiasis DOID:0080654 MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid nephrolithiasis DOID:580 uric acid nephrolithiasis uric acid nephrolithiasis DOID:580 MONDO:0003653 stork bite oio:hasExactSynonym Salmon patch nevus DOID:5806 stork bite Salmon patch nevus DOID:5806 MONDO:0003653 stork bite oio:hasExactSynonym Unna's nevus DOID:5806 stork bite Unna's nevus DOID:5806 @@ -3963,7 +3919,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breas MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis DOID:6003 aleukemic leukemia cutis aleukemic leukemia cutis DOID:6003 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia DOID:6004 aleukemic leukemia aleukemic leukemia DOID:6004 MONDO:0003730 aleukemic leukemia oio:hasRelatedSynonym aleukemic myelosis DOID:6004 aleukemic leukemia aleukemic myelosis DOID:6004 -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma central nervous system teratoma DOID:3640 central nervous system teratoma Central nervous system teratoma DOID:3640 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma DOID:6015 adult central nervous system teratoma adult central nervous system teratoma DOID:6015 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym teratoma of the adult central nervous system DOID:6015 adult central nervous system teratoma teratoma of the adult central nervous system DOID:6015 MONDO:0003732 adult central nervous system mature teratoma oio:hasExactSynonym adult central nervous system mature teratoma DOID:6016 adult central nervous system mature teratoma adult central nervous system mature teratoma DOID:6016 @@ -4067,7 +4022,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma DOID:6179 ovarian small cell carcinoma ovarian small cell carcinoma DOID:6179 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum DOID:6190 rectum Kaposi's sarcoma Kaposi's sarcoma of rectum DOID:6190 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectum Kaposi sarcoma DOID:6190 rectum Kaposi's sarcoma rectum Kaposi sarcoma DOID:6190 -MONDO:0003799 conjunctivitis oio:hasExactSynonym pink eye pink eye Pink eye DOID:11213 acute contagious conjunctivitis pink eye DOID:11213 MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis DOID:6195 conjunctivitis conjunctivitis DOID:6195 MONDO:0003799 conjunctivitis oio:hasRelatedSynonym Madras eye DOID:6195 conjunctivitis Madras eye DOID:6195 MONDO:0003800 conventional malignant hemangiopericytoma oio:hasExactSynonym conventional malignant hemangiopericytoma DOID:6197 conventional malignant hemangiopericytoma conventional malignant hemangiopericytoma DOID:6197 @@ -4228,7 +4182,6 @@ MONDO:0003915 cortical thymoma oio:hasExactSynonym cortical thymoma DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym polygonal cell thymoma polygonal cell thymoma Polygonal cell Thymoma DOID:6530 thymoma type B2 polygonal cell thymoma DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma type B2 DOID:6530 thymoma type B2 thymoma type B2 DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma, cortical thymoma, cortical Thymoma, cortical DOID:6530 thymoma type B2 thymoma, cortical DOID:6530 -MONDO:0003917 heart lymphoma oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003917 heart lymphoma oio:hasExactSynonym heart lymphoma DOID:6547 heart lymphoma heart lymphoma DOID:6547 MONDO:0003917 heart lymphoma oio:hasExactSynonym lymphoma of heart lymphoma of heart Lymphoma of Heart DOID:6547 heart lymphoma lymphoma of heart DOID:6547 MONDO:0003921 posterior foramen magnum meningioma oio:hasExactSynonym meningioma of the posterior Foramen magnum meningioma of the posterior Foramen magnum meningioma of the Posterior Foramen Magnum DOID:6553 posterior foramen magnum meningioma meningioma of the posterior Foramen magnum DOID:6553 @@ -4298,11 +4251,9 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich syndrome DOID:6 MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich's syndrome DOID:6676 Froelich syndrome Froehlich's syndrome DOID:6676 MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froelich's syndrome DOID:6676 Froelich syndrome Froelich's syndrome DOID:6676 MONDO:0003962 Froelich syndrome oio:hasExactSynonym adiposogenital syndrome DOID:6676 Froelich syndrome adiposogenital syndrome DOID:6676 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva myositis ossificans progressiva DOID:13374 MONDO:0003964 myositis ossificans oio:hasExactSynonym Myisitis ossificans DOID:668 myositis ossificans Myisitis ossificans DOID:668 MONDO:0003964 myositis ossificans oio:hasExactSynonym ossification - muscle ossification - muscle Ossification - muscle DOID:668 myositis ossificans ossification - muscle DOID:668 MONDO:0003965 Capgras syndrome oio:hasExactSynonym Capgras delusion theory DOID:6680 Capgras syndrome Capgras delusion theory DOID:6680 -MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym gastric fundus cancer DOID:10538 gastric fundus cancer gastric fundus cancer DOID:10538 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach DOID:6700 gastric fundus carcinoma carcinoma of fundus of stomach DOID:6700 MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym carcinoma of pylorus of stomach carcinoma of pylorus of stomach carcinoma of Pylorus of stomach DOID:6703 gastric pylorus carcinoma carcinoma of pylorus of stomach DOID:6703 MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym gastric pylorus carcinoma DOID:6703 gastric pylorus carcinoma gastric pylorus carcinoma DOID:6703 @@ -4383,7 +4334,6 @@ MONDO:0004043 ureter inverted papilloma oio:hasExactSynonym ureteral inverted p MONDO:0004044 ureter urothelial papilloma oio:hasExactSynonym ureter urothelial papilloma DOID:6936 ureter urothelial papilloma ureter urothelial papilloma DOID:6936 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym childhood intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma childhood intraocular retinoblastoma DOID:6938 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym pediatric intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma pediatric intraocular retinoblastoma DOID:6938 -MONDO:0004046 childhood brain meningioma oio:hasExactSynonym Brain meningioma Brain meningioma brain meningioma DOID:0060106 brain meningioma Brain meningioma DOID:0060106 MONDO:0004046 childhood brain meningioma oio:hasExactSynonym pediatric meningioma of brain DOID:6939 childhood brain meningioma pediatric meningioma of brain DOID:6939 MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym neoplasm of sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm neoplasm of sphenoidal sinus DOID:6947 MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym tumor of sphenoidal sinus tumor of sphenoidal sinus tumor of Sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm tumor of sphenoidal sinus DOID:6947 @@ -4512,7 +4462,6 @@ MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immun MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym childhood CNS embryonal cell carcinoma DOID:7231 childhood CNS embryonal cell carcinoma childhood CNS embryonal cell carcinoma DOID:7231 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of pediatric CNS embryonal carcinoma of pediatric CNS Embryonal carcinoma of pediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma embryonal carcinoma of pediatric CNS DOID:7231 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of paediatric CNS embryonal carcinoma of paediatric CNS Embryonal carcinoma of paediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma http://purl.obolibrary.org/obo/OMO_0003005 embryonal carcinoma of paediatric CNS DOID:7231 -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma Central nervous system embryonal carcinoma DOID:7232 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym adult central nervous system embryonal carcinoma DOID:7233 adult central nervous system embryonal carcinoma adult central nervous system embryonal carcinoma DOID:7233 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal carcinoma of the adult central nervous system DOID:7233 adult central nervous system embryonal carcinoma embryonal carcinoma of the adult central nervous system DOID:7233 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas pancreatic mucinous cystadenocarcinoma DOID:7234 @@ -4584,7 +4533,6 @@ MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym epididymis adeno MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor DOID:746 adenomatoid tumor adenomatoid tumor DOID:746 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma benign localized epithelial Mesothelioma DOID:746 adenomatoid tumor benign localized epithelial mesothelioma DOID:746 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localised epithelial mesothelioma benign localised epithelial mesothelioma benign localised epithelial Mesothelioma DOID:746 adenomatoid tumor http://purl.obolibrary.org/obo/OMO_0003005 benign localised epithelial mesothelioma DOID:746 -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma DOID:3250 pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma DOID:3250 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma childhood anaplastic Rhabdomyosarcoma DOID:7463 childhood pleomorphic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma DOID:7463 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym NK-cell large granular lymphocyte lymphocytosis NK-cell large granular lymphocyte lymphocytosis NK-cell large granular Lymphocyte Lymphocytosis DOID:7465 chronic NK-cell lymphocytosis NK-cell large granular lymphocyte lymphocytosis DOID:7465 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym chronic NK-cell lymphocytosis DOID:7465 chronic NK-cell lymphocytosis chronic NK-cell lymphocytosis DOID:7465 @@ -5376,7 +5324,6 @@ MONDO:0004898 total circumpapillary dystrophy of choroid oio:hasExactSynonym ci MONDO:0004901 lingual-facial-buccal dyskinesia oio:hasExactSynonym oro-facial dyskinesia oro-facial dyskinesia Oro-facial dyskinesia DOID:9854 lingual-facial-buccal dyskinesia oro-facial dyskinesia DOID:9854 MONDO:0004904 toxic maculopathy oio:hasExactSynonym toxic maculopathy of retina toxic maculopathy of retina Toxic maculopathy of retina DOID:9867 toxic maculopathy toxic maculopathy of retina DOID:9867 MONDO:0004907 alopecia oio:hasExactSynonym alopecia DOID:987 alopecia alopecia DOID:987 -MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse syndrome DOID:0111154 postural orthostatic tachycardia syndrome mitral valve prolapse syndrome DOID:0111154 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym barlow's syndrome barlow's syndrome Barlow's syndrome DOID:988 mitral valve prolapse barlow's syndrome DOID:988 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym floppy mitral valve DOID:988 mitral valve prolapse floppy mitral valve DOID:988 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse DOID:988 mitral valve prolapse mitral valve prolapse DOID:988 @@ -5456,14 +5403,12 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease DOID:10652 Alzheimer's disease Alzheimer disease DOID:10652 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease DOID:10652 Alzheimer's disease Alzheimer's disease DOID:10652 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimers dementia DOID:10652 Alzheimer's disease Alzheimers dementia DOID:10652 -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis DOID:0111227 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig's disease DOID:332 amyotrophic lateral sclerosis Lou Gehrig's disease DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym motor neuron disease, bulbar DOID:332 amyotrophic lateral sclerosis motor neuron disease, bulbar DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis DOID:332 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS DOID:332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma DOID:0111147 angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma DOID:0111147 MONDO:0004979 asthma oio:hasExactSynonym bronchial hyperreactivity DOID:2841 asthma bronchial hyperreactivity DOID:2841 -MONDO:0004980 atopic eczema oio:hasExactSynonym eczema DOID:2723 dermatitis eczema DOID:2723 MONDO:0004980 atopic eczema oio:hasExactSynonym Besnier's prurigo DOID:3310 atopic dermatitis Besnier's prurigo DOID:3310 MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis DOID:3310 atopic dermatitis allergic dermatitis DOID:3310 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis DOID:3310 atopic dermatitis atopic dermatitis DOID:3310 @@ -5672,8 +5617,6 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcino MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma squamous cell Epithelioma DOID:1749 squamous cell carcinoma squamous cell epithelioma DOID:1749 MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell carcinoma of the lung epidermoid cell carcinoma of the lung Epidermoid cell carcinoma of the lung DOID:3907 lung squamous cell carcinoma epidermoid cell carcinoma of the lung DOID:3907 MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym lung squamous cell carcinoma DOID:3907 lung squamous cell carcinoma lung squamous cell carcinoma DOID:3907 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy diffuse sclerosis DOID:10588 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse Scleroderma diffuse Scleroderma diffuse scleroderma DOID:1580 diffuse scleroderma diffuse Scleroderma DOID:1580 MONDO:0005100 systemic sclerosis oio:hasExactSynonym Scleroderma syndrome DOID:418 systemic scleroderma Scleroderma syndrome DOID:418 MONDO:0005100 systemic sclerosis oio:hasExactSynonym Systemic Scleroderma Systemic Scleroderma systemic scleroderma DOID:418 systemic scleroderma Systemic Scleroderma DOID:418 MONDO:0005100 systemic sclerosis oio:hasExactSynonym progressive systemic sclerosis DOID:418 systemic scleroderma progressive systemic sclerosis DOID:418 @@ -5811,7 +5754,6 @@ MONDO:0005215 vulvar carcinoma oio:hasExactSynonym vulvar carcinoma vulvar carc MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym breast fibrocystic change breast fibrocystic change breast Fibrocystic Change DOID:10354 breast fibrocystic disease breast fibrocystic change DOID:10354 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym diffuse cystic mastopathy diffuse cystic mastopathy Diffuse cystic mastopathy DOID:10354 breast fibrocystic disease diffuse cystic mastopathy DOID:10354 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic disease of breast DOID:10354 breast fibrocystic disease fibrocystic disease of breast DOID:10354 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym BDC DOID:0110970 brachydactyly type C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDC DOID:0110970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct carcinoma of renal Collecting duct DOID:4464 collecting duct carcinoma carcinoma of renal collecting duct DOID:4464 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym collecting duct carcinoma DOID:4464 collecting duct carcinoma collecting duct carcinoma DOID:4464 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym renal carcinoma, collecting duct type DOID:4464 collecting duct carcinoma renal carcinoma, collecting duct type DOID:4464 @@ -5847,7 +5789,6 @@ MONDO:0005264 transient ischemic attack oio:hasExactSynonym transient ischemic MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA - transient ischaemic attack TIA - transient ischaemic attack TIA - Transient ischaemic attack DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/OMO_0003005 TIA - transient ischaemic attack DOID:224 MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease DOID:0050589 inflammatory bowel disease inflammatory bowel disease DOID:0050589 -MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym IBD DOID:9778 irritable bowel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD DOID:9778 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005266 diabetic retinopathy oio:hasExactSynonym retinal abnormality - diabetes-related retinal abnormality - diabetes-related Retinal abnormality - diabetes-related DOID:8947 diabetic retinopathy retinal abnormality - diabetes-related DOID:8947 MONDO:0005267 heart disorder oio:hasExactSynonym heart disease DOID:114 heart disease heart disease DOID:114 MONDO:0005269 carotid artery disorder oio:hasExactSynonym disorder of carotid artery DOID:3407 carotid artery disease disorder of carotid artery DOID:3407 @@ -6107,7 +6048,6 @@ MONDO:0005555 cycloplegia oio:hasExactSynonym paresis of accommodation paresis MONDO:0005556 lupus nephritis oio:hasExactSynonym lupus nephritis DOID:0080162 lupus nephritis lupus nephritis DOID:0080162 MONDO:0005558 ovarian disorder oio:hasExactSynonym ovarian disease DOID:1100 ovarian disease ovarian disease DOID:1100 MONDO:0005559 neurodegenerative disease oio:hasExactSynonym neurodegenerative disease DOID:1289 neurodegenerative disease neurodegenerative disease DOID:1289 -MONDO:0005559 neurodegenerative disease oio:hasExactSynonym brain degeneration brain degeneration Brain degeneration DOID:1443 cerebral degeneration brain degeneration DOID:1443 MONDO:0005560 brain disorder oio:hasExactSynonym brain disease DOID:936 brain disease brain disease DOID:936 MONDO:0005561 aortic disorder oio:hasExactSynonym aortic disorder DOID:520 aortic disease aortic disorder DOID:520 MONDO:0005561 aortic disorder oio:hasExactSynonym disorder of the aorta DOID:520 aortic disease disorder of the aorta DOID:520 @@ -6172,7 +6112,6 @@ MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder DOID:2030 MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety state DOID:2030 anxiety disorder anxiety state DOID:2030 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid typhoid Typhoid DOID:13258 typhoid fever typhoid DOID:13258 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever DOID:13258 typhoid fever typhoid fever DOID:13258 -MONDO:0005620 cerebral amyloid angiopathy oio:hasExactSynonym HCHWA DOID:0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCHWA DOID:0070027 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005625 cerebral malaria oio:hasExactSynonym malarial encephalitis malarial encephalitis Malarial encephalitis DOID:14069 cerebral malaria malarial encephalitis DOID:14069 MONDO:0005627 head and neck cancer oio:hasExactSynonym head and neck cancer DOID:11934 head and neck cancer head and neck cancer DOID:11934 MONDO:0005628 male breast carcinoma oio:hasExactSynonym Male breast cancer Male breast cancer male breast cancer DOID:1614 male breast cancer Male breast cancer DOID:1614 @@ -6377,10 +6316,10 @@ MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym mycotic mycetoma mycotic m MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian elephantiasis DOID:12211 filarial elephantiasis Bancroftian elephantiasis DOID:12211 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian filarial chyluria DOID:12211 filarial elephantiasis Bancroftian filarial chyluria DOID:12211 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym elephantiasis of eyelid DOID:12211 filarial elephantiasis elephantiasis of eyelid DOID:12211 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular Dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumour follicular dendritic cell tumour Follicular dendritic cell tumour DOID:6262 follicular dendritic cell sarcoma http://purl.obolibrary.org/obo/OMO_0003005 follicular dendritic cell tumour DOID:6262 MONDO:0005767 gas gangrene oio:hasExactSynonym gas bacillus infection gas bacillus infection Gas bacillus infection DOID:9159 gas gangrene gas bacillus infection DOID:9159 MONDO:0005767 gas gangrene oio:hasExactSynonym gas gangrene DOID:9159 gas gangrene gas gangrene DOID:9159 @@ -6436,7 +6375,6 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant hypopharyngeal t MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypopharynx DOID:8533 hypopharynx cancer malignant neoplasm of hypopharynx DOID:8533 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx DOID:8533 hypopharynx cancer malignant tumor of hypopharynx DOID:8533 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumour of hypopharynx DOID:8533 hypopharynx cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant tumour of hypopharynx DOID:8533 -MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma Trachoma trachoma DOID:11265 trachoma Trachoma DOID:11265 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis DOID:13800 inclusion conjunctivitis Chlamydial conjunctivitis DOID:13800 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym adult inclusion conjunctivitis DOID:13800 inclusion conjunctivitis adult inclusion conjunctivitis DOID:13800 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym inclusion blennorrhoea inclusion blennorrhoea Inclusion blennorrhoea DOID:13800 inclusion conjunctivitis inclusion blennorrhoea DOID:13800 @@ -6577,8 +6515,6 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell car MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant neoplasm of islets of Langerhans DOID:1798 pancreatic endocrine carcinoma malignant neoplasm of islets of Langerhans DOID:1798 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic endocrine carcinoma DOID:1798 pancreatic endocrine carcinoma pancreatic endocrine carcinoma DOID:1798 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic neuroendocrine carcinoma DOID:1798 pancreatic endocrine carcinoma pancreatic neuroendocrine carcinoma DOID:1798 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor malignant pancreatic Endocrine tumor DOID:1799 islet cell tumor malignant pancreatic endocrine tumor DOID:1799 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumour malignant pancreatic endocrine tumour malignant pancreatic Endocrine tumour DOID:1799 islet cell tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant pancreatic endocrine tumour DOID:1799 MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym mucocutaneous-lymphangitic paracoccidioidomycosis mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 paracoccidioidomycosis mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym paracoccidioidal mycosis DOID:12662 paracoccidioidomycosis paracoccidioidal mycosis DOID:12662 MONDO:0005895 paragonimiasis oio:hasExactSynonym infection by Paragonimus infection by Paragonimus Infection by Paragonimus DOID:10699 paragonimiasis infection by Paragonimus DOID:10699 @@ -6721,7 +6657,6 @@ MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidal vulvovagini MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidiasis of vulva and vagina candidiasis of vulva and vagina Candidiasis of vulva and vagina DOID:2272 vulvovaginal candidiasis candidiasis of vulva and vagina DOID:2272 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym monilial vulvovaginitis monilial vulvovaginitis Monilial vulvovaginitis DOID:2272 vulvovaginal candidiasis monilial vulvovaginitis DOID:2272 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vulvovaginal candidiasis DOID:2272 vulvovaginal candidiasis vulvovaginal candidiasis DOID:2272 -MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym meningococcal hemorrhagic adrenalitis meningococcal hemorrhagic adrenalitis Meningococcal hemorrhagic adrenalitis DOID:9931 Waterhouse-Friderichsen syndrome meningococcal hemorrhagic adrenalitis DOID:9931 MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's subsepsis allergica DOID:3047 Wissler-Fanconi syndrome Wissler's subsepsis allergica DOID:3047 MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's syndrome DOID:3047 Wissler-Fanconi syndrome Wissler's syndrome DOID:3047 @@ -6791,7 +6726,6 @@ MONDO:0006091 appendix neuroendocrine tumor G1 oio:hasExactSynonym appendix car MONDO:0006094 Askin tumor oio:hasExactSynonym Askin tumor DOID:0050608 Askin's tumor Askin tumor DOID:0050608 MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumor DOID:0050608 Askin's tumor Askin's tumor DOID:0050608 MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumour DOID:0050608 Askin's tumor http://purl.obolibrary.org/obo/OMO_0003005 Askin's tumour DOID:0050608 -MONDO:0006094 Askin tumor oio:hasExactSynonym PNET of thoracopulmonary region PNET of thoracopulmonary region PNET of Thoracopulmonary Region DOID:3369 Ewing sarcoma PNET of thoracopulmonary region DOID:3369 MONDO:0006108 bile duct adenoma oio:hasExactSynonym Cholangioadenoma DOID:5381 bile duct adenoma Cholangioadenoma DOID:5381 MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma DOID:5381 bile duct adenoma bile duct adenoma DOID:5381 MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym malignant biphasic mesothelioma DOID:4486 malignant biphasic mesothelioma malignant biphasic mesothelioma DOID:4486 @@ -6888,8 +6822,6 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym Her2-receptor MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma Renal Medullary Carcinoma DOID:0070475 MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym kidney medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma kidney medullary carcinoma DOID:0070475 MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma renal medullary carcinoma DOID:0070475 -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma Renal Medullary Carcinoma DOID:4464 -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma renal medullary carcinoma DOID:4464 MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym lacrimal gland adenoid cystic carcinoma DOID:4870 lacrimal gland adenoid cystic carcinoma lacrimal gland adenoid cystic carcinoma DOID:4870 MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of larynx adenoid cystic carcinoma of larynx adenoid cystic carcinoma of Larynx DOID:4869 laryngeal adenoid cystic carcinoma adenoid cystic carcinoma of larynx DOID:4869 MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym laryngeal adenoid cystic carcinoma DOID:4869 laryngeal adenoid cystic carcinoma laryngeal adenoid cystic carcinoma DOID:4869 @@ -7055,7 +6987,6 @@ MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureter small cell MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureteral small cell carcinoma DOID:6886 ureter small cell carcinoma ureteral small cell carcinoma DOID:6886 MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym mixed mullerian sarcoma of uterus DOID:6171 uterine carcinosarcoma mixed mullerian sarcoma of uterus DOID:6171 MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym uterine carcinosarcoma DOID:6171 uterine carcinosarcoma uterine carcinosarcoma DOID:6171 -MONDO:0006486 uveal melanoma oio:hasExactSynonym intraocular melanoma DOID:1752 ocular melanoma intraocular melanoma DOID:1752 MONDO:0006486 uveal melanoma oio:hasExactSynonym melanoma of uvea melanoma of uvea melanoma of Uvea DOID:6039 uveal melanoma melanoma of uvea DOID:6039 MONDO:0006486 uveal melanoma oio:hasExactSynonym uveal melanoma DOID:6039 uveal melanoma uveal melanoma DOID:6039 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym vaginal carcinosarcoma DOID:136 vaginal carcinosarcoma vaginal carcinosarcoma DOID:136 @@ -7138,7 +7069,6 @@ MONDO:0006574 lipomatosis oio:hasExactSynonym lipomatosis DOID:3153 lipomatos MONDO:0006576 Ludwig's angina oio:hasExactSynonym Ludwig angina DOID:4558 Ludwig's angina Ludwig angina DOID:4558 MONDO:0006576 Ludwig's angina oio:hasExactSynonym cellulitis of floor of mouth DOID:4558 Ludwig's angina cellulitis of floor of mouth DOID:4558 MONDO:0006578 mediastinal lipomatosis oio:hasExactSynonym mediastinal lipomatosis DOID:3926 mediastinal lipomatosis mediastinal lipomatosis DOID:3926 -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat DOID:11153 miliaria rubra prickly heat DOID:11153 MONDO:0006580 miliaria oio:hasExactSynonym heat rash DOID:1382 miliaria heat rash DOID:1382 MONDO:0006582 mongolian spot oio:hasExactSynonym Mongolian macula Mongolian macula Mongolian Macula DOID:4702 mongolian spot Mongolian macula DOID:4702 MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica DOID:3486 necrobiosis lipoidica necrobiosis lipoidica DOID:3486 @@ -7155,7 +7085,6 @@ MONDO:0006593 pelvic lipomatosis oio:hasExactSynonym pelvic lipomatosis DOID: MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic contact dermatitis photoallergic contact dermatitis Photoallergic contact dermatitis DOID:3818 photoallergic dermatitis photoallergic contact dermatitis DOID:3818 MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic eczema photoallergic eczema Photoallergic eczema DOID:3818 photoallergic dermatitis photoallergic eczema DOID:3818 MONDO:0006597 photosensitivity disease oio:hasExactSynonym photodermatitis photodermatitis Photodermatitis DOID:3159 photosensitivity disease photodermatitis DOID:3159 -MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photodermatitis DOID:3159 photosensitivity disease Photodermatitis DOID:3159 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photosensitisation reaction DOID:4407 phototoxic dermatitis Photosensitisation reaction DOID:4407 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitive dermatitis photosensitive dermatitis Photosensitive Dermatitis DOID:4407 phototoxic dermatitis photosensitive dermatitis DOID:4407 MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitiveness photosensitiveness Photosensitiveness DOID:4407 phototoxic dermatitis photosensitiveness DOID:4407 @@ -7173,7 +7102,6 @@ MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym Seborrhoeic eczema DO MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrhea DOID:8741 seborrheic dermatitis seborrhea DOID:8741 MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrheic dermatitis DOID:8741 seborrheic dermatitis seborrheic dermatitis DOID:8741 MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym skin seborrheic skin seborrheic SKIN SEBORRHEIC DOID:8741 seborrheic dermatitis skin seborrheic DOID:8741 -MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym cradle Cap cradle Cap cradle cap DOID:8941 seborrheic infantile dermatitis cradle Cap DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoea capitis DOID:8941 seborrheic infantile dermatitis Seborrhoea capitis DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic dermatitis of scalp DOID:8941 seborrheic infantile dermatitis Seborrhoeic dermatitis of scalp DOID:8941 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic eczema of scalp DOID:8941 seborrheic infantile dermatitis Seborrhoeic eczema of scalp DOID:8941 @@ -7210,7 +7138,6 @@ MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal fai MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis DOID:12556 acute kidney tubular necrosis acute tubular necrosis DOID:12556 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubule necrosis DOID:12556 acute kidney tubular necrosis acute tubule necrosis DOID:12556 MONDO:0006638 acute retinal necrosis syndrome oio:hasExactSynonym acute retinal necrosis DOID:3611 acute retinal necrosis syndrome acute retinal necrosis DOID:3611 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma adenoid cystic carcinoma DOID:0080202 adenoid cystic carcinoma Adenoid Cystic Carcinoma DOID:0080202 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma DOID:3948 adrenocortical carcinoma adrenal cortical carcinoma DOID:3948 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma DOID:3948 adrenocortical carcinoma adrenocortical carcinoma DOID:3948 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym carcinoma of the adrenal cortex carcinoma of the adrenal cortex carcinoma of the Adrenal cortex DOID:3948 adrenocortical carcinoma carcinoma of the adrenal cortex DOID:3948 @@ -7321,7 +7248,6 @@ MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome D MONDO:0006742 endemic goiter oio:hasExactSynonym iodine-deficiency-related endemic goitre iodine-deficiency-related endemic goitre Iodine-deficiency-related endemic goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 iodine-deficiency-related endemic goitre DOID:13198 MONDO:0006742 endemic goiter oio:hasExactSynonym simple goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 simple goitre DOID:13198 MONDO:0006744 endolymphatic hydrops oio:hasExactSynonym labyrinthine hydrops DOID:9848 endolymphatic hydrops labyrinthine hydrops DOID:9848 -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome Empty Sella Syndrome empty sella syndrome DOID:3642 empty sella syndrome Empty Sella Syndrome DOID:3642 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma DOID:4226 endometrial stromal sarcoma endometrial stromal sarcoma DOID:4226 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma, high grade DOID:4226 endometrial stromal sarcoma endometrial stromal sarcoma, high grade DOID:4226 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym undifferentiated endometrial sarcoma undifferentiated endometrial sarcoma Undifferentiated endometrial sarcoma DOID:4226 endometrial stromal sarcoma undifferentiated endometrial sarcoma DOID:4226 @@ -7499,7 +7425,6 @@ MONDO:0006882 orchitis oio:hasExactSynonym Inflammation of testis DOID:2518 o MONDO:0006882 orchitis oio:hasExactSynonym Orchititis DOID:2518 orchitis Orchititis DOID:2518 MONDO:0006882 orchitis oio:hasExactSynonym inflammation of testis inflammation of testis Inflammation of testis DOID:2518 orchitis inflammation of testis DOID:2518 MONDO:0006882 orchitis oio:hasExactSynonym orchitis DOID:2518 orchitis orchitis DOID:2518 -MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast's tumor DOID:4876 trachea carcinoma Pancoast's tumor DOID:4876 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast tumor DOID:8007 Pancoast tumor Pancoast tumor DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym malignant Superior sulcus tumor malignant Superior sulcus tumor malignant Superior Sulcus tumor DOID:8007 Pancoast tumor malignant Superior sulcus tumor DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym superior pulmonary sulcus syndrome superior pulmonary sulcus syndrome Superior pulmonary sulcus syndrome DOID:8007 Pancoast tumor superior pulmonary sulcus syndrome DOID:8007 @@ -7512,7 +7437,6 @@ MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym adenoma of the para MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym parathyroid adenoma DOID:7608 parathyroid adenoma parathyroid adenoma DOID:7608 MONDO:0006891 partial motor epilepsy oio:hasExactSynonym epilepsy, focal motor DOID:3327 partial motor epilepsy epilepsy, focal motor DOID:3327 MONDO:0006891 partial motor epilepsy oio:hasExactSynonym focal motor seizure focal motor seizure Focal motor seizure DOID:3327 partial motor epilepsy focal motor seizure DOID:3327 -MONDO:0006895 penile neoplasm oio:hasExactSynonym penile neoplasm DOID:11615 penile cancer penile neoplasm DOID:11615 MONDO:0006895 penile neoplasm oio:hasExactSynonym neoplasm of penis DOID:11624 penile benign neoplasm neoplasm of penis DOID:11624 MONDO:0006895 penile neoplasm oio:hasExactSynonym penile tumor penile tumor Penile tumor DOID:11624 penile benign neoplasm penile tumor DOID:11624 MONDO:0006896 peptic esophagitis oio:hasExactSynonym peptic esophagitis DOID:13976 peptic esophagitis peptic esophagitis DOID:13976 @@ -7732,8 +7656,6 @@ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym amyloidosis, MERETOJ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym gelsolin amyloidosis DOID:0050637 Finnish type amyloidosis gelsolin amyloidosis DOID:0050637 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis VI amyloidosis VI Amyloidosis VI DOID:0070027 CST3-related cerebral amyloid angiopathy amyloidosis VI DOID:0070027 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis, Cerebroarterial, Icelandic type amyloidosis, Cerebroarterial, Icelandic type Amyloidosis, Cerebroarterial, Icelandic Type DOID:0070027 CST3-related cerebral amyloid angiopathy amyloidosis, Cerebroarterial, Icelandic type DOID:0070027 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cerebral hemorrhage, hereditary, with amyloidosis cerebral hemorrhage, hereditary, with amyloidosis Cerebral Hemorrhage, Hereditary, with Amyloidosis DOID:9246 cerebral amyloid angiopathy cerebral hemorrhage, hereditary, with amyloidosis DOID:9246 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis DOID:9246 cerebral amyloid angiopathy hereditary cerebral hemorrhage with amyloidosis DOID:9246 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym German type amyloidosis DOID:0050636 familial visceral amyloidosis German type amyloidosis DOID:0050636 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym Ostertag type amyloidosis Ostertag type amyloidosis OSTERTAG TYPE AMYLOIDOSIS DOID:0050636 familial visceral amyloidosis Ostertag type amyloidosis DOID:0050636 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, familial renal amyloidosis, familial renal AMYLOIDOSIS, FAMILIAL RENAL DOID:0050636 familial visceral amyloidosis amyloidosis, familial renal DOID:0050636 @@ -7875,7 +7797,6 @@ MONDO:0007222 brachydactyly type D oio:hasExactSynonym BDD DOID:0110971 brach MONDO:0007223 brachydactyly type E1 oio:hasExactSynonym BDE1 DOID:0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDE1 DOID:0110972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym branchiooculofacial syndrome DOID:0050691 branchiooculofacial syndrome branchiooculofacial syndrome DOID:0050691 MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL branchiootorenal syndrome 1 DOID:0111423 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma DOID:0060877 bullous congenital ichthyosiform erythroderma bullous congenital ichthyosiform erythroderma DOID:0060877 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis DOID:4603 epidermolytic hyperkeratosis epidermolytic hyperkeratosis DOID:4603 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis DOID:4603 epidermolytic hyperkeratosis epidermolytic ichthyosis DOID:4603 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic palmoplantar hyperkeratosis epidermolytic palmoplantar hyperkeratosis Epidermolytic palmoplantar hyperkeratosis DOID:4603 epidermolytic hyperkeratosis epidermolytic palmoplantar hyperkeratosis DOID:4603 @@ -8079,7 +8000,6 @@ MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym MECD DOID:006045 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy DOID:0070337 epithelial recurrent erosion dystrophy epithelial recurrent erosion dystrophy DOID:0070337 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED DOID:0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERED DOID:0070337 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cornelia de Lange syndrome 1 DOID:0080505 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis DOID:0050568 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 DOID:0112363 spondylocostal dysostosis 5 spondylocostal dysostosis 5 DOID:0112363 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 DOID:0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCDO5 DOID:0112363 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym Sommer-Young-Wee-Frye syndrome DOID:0111336 craniofacial-deafness-hand syndrome Sommer-Young-Wee-Frye syndrome DOID:0111336 @@ -8222,10 +8142,7 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self-healing epithelioma of Ferguson-Smith multiple self-healing epithelioma of Ferguson-Smith Multiple self-healing epithelioma of Ferguson-Smith DOID:5585 Ferguson-Smith tumor multiple self-healing epithelioma of Ferguson-Smith DOID:5585 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis 1 DOID:0060652 familial erythrocytosis 1 familial erythrocytosis 1 DOID:0060652 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym primary familial and congenital polycythemia DOID:0060652 familial erythrocytosis 1 primary familial and congenital polycythemia DOID:0060652 -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis DOID:10780 primary polycythemia familial erythrocytosis DOID:10780 MONDO:0007574 spinocerebellar ataxia type 34 oio:hasExactSynonym spinocerebellar ataxia type 34 DOID:0050981 spinocerebellar ataxia type 34 spinocerebellar ataxia type 34 DOID:0050981 -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus DOID:1107 esophageal carcinoma cancer of esophagus DOID:1107 -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 cancer of oesophagus DOID:1107 MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer DOID:5041 esophageal cancer esophageal cancer DOID:5041 MONDO:0007576 esophageal cancer oio:hasExactSynonym esophagus cancer DOID:5041 esophageal cancer esophagus cancer DOID:5041 MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym exudative vitreoretinopathy 1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL exudative vitreoretinopathy 1 DOID:0111412 @@ -8311,7 +8228,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym hypoplastic MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome DOID:0111101 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY5 DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation DOID:2436 glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glomuvenous malformation DOID:2436 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma DOID:7996 familial glomangioma familial glomangioma DOID:7996 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet alpha-granule deficiency DOID:0111044 gray platelet syndrome platelet alpha-granule deficiency DOID:0111044 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet-type bleeding disorder 4 DOID:0111044 gray platelet syndrome platelet-type bleeding disorder 4 DOID:0111044 @@ -8391,7 +8307,6 @@ MONDO:0007753 Frey syndrome oio:hasExactSynonym Baillarger syndrome DOID:1159 MONDO:0007753 Frey syndrome oio:hasExactSynonym Frey syndrome DOID:11599 Frey syndrome Frey syndrome DOID:11599 MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory hyperhidrosis DOID:11599 Frey syndrome gustatory hyperhidrosis DOID:11599 MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory sweating DOID:11599 Frey syndrome gustatory sweating DOID:11599 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym EPPK DOID:0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPPK DOID:0080223 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial APOA5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial APOA5 deficiency DOID:0111421 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein A-V deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial apolipoprotein A-V deficiency DOID:0111421 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein a5 deficiency familial apolipoprotein a5 deficiency familial apolipoprotein A5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency familial apolipoprotein a5 deficiency DOID:0111421 @@ -8524,7 +8439,6 @@ MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leuk MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, FAB M5 DOID:8864 acute monocytic leukemia acute monocytic leukemia, FAB M5 DOID:8864 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, morphology DOID:8864 acute monocytic leukemia acute monocytic leukemia, morphology DOID:8864 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukaemia without mention of remission DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute monocytic leukaemia without mention of remission DOID:8864 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym Dunnigan syndrome Dunnigan syndrome Dunnigan Syndrome DOID:0050440 familial partial lipodystrophy Dunnigan syndrome DOID:0050440 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial lipodystrophy of limbs and lower trunk DOID:0070202 familial partial lipodystrophy type 2 familial lipodystrophy of limbs and lower trunk DOID:0070202 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy Dunnigan type DOID:0070202 familial partial lipodystrophy type 2 familial partial lipodystrophy Dunnigan type DOID:0070202 MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy type 2 DOID:0070202 familial partial lipodystrophy type 2 familial partial lipodystrophy type 2 DOID:0070202 @@ -8537,7 +8451,6 @@ MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipodystrophy, MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipomatosis, familial benign cervical lipomatosis, familial benign cervical LIPOMATOSIS, FAMILIAL BENIGN CERVICAL DOID:14116 multiple symmetric lipomatosis lipomatosis, familial benign cervical DOID:14116 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetric lipomatosis DOID:14116 multiple symmetric lipomatosis multiple symmetric lipomatosis DOID:14116 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis DOID:14116 multiple symmetric lipomatosis multiple symmetrical lipomatosis DOID:14116 -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus Lupus lupus DOID:8857 lupus erythematosus Lupus DOID:8857 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus SLE - lupus erythematosus, systemic DOID:9074 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lupus erythematosus DOID:9074 systemic lupus erythematosus disseminated lupus erythematosus DOID:9074 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym lupus erythematosus, systemic lupus erythematosus, systemic Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus lupus erythematosus, systemic DOID:9074 @@ -8660,7 +8573,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome DOID:0060888 transient myeloproliferative syndrome transient myeloproliferative syndrome DOID:0060888 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TAM DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD DOID:0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD DOID:0111078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym myoclonic dystonia 11 DOID:0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL myoclonic dystonia 11 DOID:0090034 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy Jankovic-Rivera syndrome DOID:0111527 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 @@ -8727,7 +8639,6 @@ MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym neutropenia, periodic ne MONDO:0008093 nevus, epidermal oio:hasExactSynonym Epidermal Nevus Epidermal Nevus epidermal nevus DOID:0111162 epidermal nevus Epidermal Nevus DOID:0111162 MONDO:0008093 nevus, epidermal oio:hasExactSynonym nonepidermolytic keratinocytic nevus DOID:0111162 epidermal nevus nonepidermolytic keratinocytic nevus DOID:0111162 MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym familial multiple port-wine stains DOID:0111529 familial multiple nevi flammei familial multiple port-wine stains DOID:0111529 -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym Salmon patch Nevus Salmon patch Nevus Salmon patch nevus DOID:5806 stork bite Salmon patch Nevus DOID:5806 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus Sebaceus Syndrome Nevus Sebaceus Syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome Nevus Sebaceus Syndrome DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus of Jadassohn Nevus sebaceus of Jadassohn nevus sebaceus of Jadassohn DOID:0111530 linear nevus sebaceous syndrome Nevus sebaceus of Jadassohn DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus syndrome Nevus sebaceus syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome Nevus sebaceus syndrome DOID:0111530 @@ -8889,7 +8800,6 @@ MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym Cronkhite-Canada sy MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis DOID:6225 Cronkhite-Canada syndrome gastric Cronkhite Canada polyposis DOID:6225 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym polysyndactyly with peculiars skull shape DOID:14761 Greig cephalopolysyndactyly syndrome polysyndactyly with peculiars skull shape DOID:14761 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalopolysyndactyly syndrome DOID:14761 Greig cephalopolysyndactyly syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Greig cephalopolysyndactyly syndrome DOID:14761 -MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome DOID:6683 X-linked Aarskog syndrome Greig's syndrome DOID:6683 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 brain small vessel disease 1 COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related familial vascular leukoencephalopathy DOID:0090125 brain small vessel disease 1 COL4A1-related familial vascular leukoencephalopathy DOID:0090125 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 brain small vessel disease 1 COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 @@ -8979,7 +8889,6 @@ MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Axenfeld-Rieg MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym RIEG1 DOID:0110120 Axenfeld-Rieger syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RIEG1 DOID:0110120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym Ring dermoid syndrome Ring dermoid syndrome ring dermoid syndrome DOID:0111548 ring dermoid of cornea Ring dermoid syndrome DOID:0111548 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym ring dermoid of cornea DOID:0111548 ring dermoid of cornea ring dermoid of cornea DOID:0111548 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym SRS DOID:0060802 syndromic X-linked intellectual disability Snyder type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SRS DOID:0060802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver Russell dwarfism Silver Russell dwarfism Silver Russell Dwarfism DOID:14681 Silver-Russell syndrome Silver Russell dwarfism DOID:14681 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome DOID:14681 Silver-Russell syndrome Silver-Russell syndrome DOID:14681 MONDO:0008397 aplasia of lacrimal and salivary glands oio:hasExactSynonym aplasia of lacrimal and salivary glands DOID:0111549 aplasia of lacrimal and salivary glands aplasia of lacrimal and salivary glands DOID:0111549 @@ -9213,8 +9122,8 @@ MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dy MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dystrophy DOID:0111604 Freeman-Sheldon syndrome craniocarpotarsal dystrophy DOID:0111604 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face syndrome DOID:0111604 Freeman-Sheldon syndrome whistling face syndrome DOID:0111604 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face-windmill vane hand syndrome DOID:0111604 Freeman-Sheldon syndrome whistling face-windmill vane hand syndrome DOID:0111604 -MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A distal arthrogryposis type 2A distal arthrogryposis type 2a DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 +MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A distal arthrogryposis type 2A DOID:0111605 MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym white sponge nevus 1 DOID:0081287 white sponge nevus 1 white sponge nevus 1 DOID:0081287 MONDO:0008678 Williams syndrome oio:hasExactSynonym Fanconi Schlesinger syndrome DOID:1928 Williams-Beuren syndrome Fanconi Schlesinger syndrome DOID:1928 MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome DOID:1928 Williams-Beuren syndrome Williams-Beuren syndrome DOID:1928 @@ -9222,7 +9131,6 @@ MONDO:0008681 WAGR syndrome oio:hasExactSynonym 11p partial monosomy syndrome MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome DOID:14515 WAGR syndrome WAGR syndrome DOID:14515 MONDO:0008681 WAGR syndrome oio:hasExactSynonym chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome chromosome 11p13 deletion syndrome DOID:14515 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome DOID:14515 WAGR syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome DOID:14515 -MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type 4 DOID:0080383 nephrotic syndrome type 4 nephrotic syndrome type 4 DOID:0080383 MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome DOID:3764 Denys-Drash syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Denys-Drash syndrome DOID:3764 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome 4p deletion syndrome DOID:0050460 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Pitt syndrome Pitt syndrome PITT SYNDROME DOID:0050460 Wolf-Hirschhorn syndrome Pitt syndrome DOID:0050460 @@ -9474,7 +9382,6 @@ MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym presenile gangrene presenile gangrene Presenile gangrene DOID:12918 thromboangiitis obliterans presenile gangrene DOID:12918 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans DOID:12918 thromboangiitis obliterans thromboangiitis obliterans DOID:12918 MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym Brown-Vialetto-van Laere syndrome Brown-Vialetto-van Laere syndrome Brown-Vialetto-Van Laere syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome Brown-Vialetto-van Laere syndrome DOID:0050694 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym Byler disease DOID:0070221 progressive familial intrahepatic cholestasis Byler disease DOID:0070221 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym FIC1 deficiency DOID:0070226 progressive familial intrahepatic cholestasis 1 FIC1 deficiency DOID:0070226 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym PFIC1 DOID:0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFIC1 DOID:0070226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008893 C syndrome oio:hasExactSynonym C syndrome DOID:0111581 C syndrome C syndrome DOID:0111581 @@ -9487,7 +9394,6 @@ MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym CALJA DOID:0111582 hereditary arterial and articular multiple calcification syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CALJA DOID:0111582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer DOID:1324 lung cancer lung cancer DOID:1324 MONDO:0008903 lung cancer oio:hasRelatedSynonym lung neoplasm DOID:1324 lung cancer lung neoplasm DOID:1324 -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung DOID:3905 lung carcinoma cancer of lung DOID:3905 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym PMM2-congenital disorder of glycosylation DOID:0080552 congenital disorder of glycosylation Ia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL PMM2-congenital disorder of glycosylation DOID:0080552 MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IIa DOID:0070253 congenital disorder of glycosylation type IIa congenital disorder of glycosylation type IIa DOID:0070253 MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym CDG2A DOID:0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2A DOID:0070253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9569,7 +9475,6 @@ MONDO:0008978 chordoma oio:hasExactSynonym chordoma DOID:3302 chordoma ch MONDO:0008978 chordoma oio:hasExactSynonym notochordoma DOID:3302 chordoma notochordoma DOID:3302 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome oio:hasExactSynonym Boucher-Neuhauser syndrome DOID:0111265 Boucher-Neuhauser syndrome Boucher-Neuhauser syndrome DOID:0111265 MONDO:0008988 citrullinemia type I oio:hasExactSynonym classic citrullinemia DOID:0070340 classic citrullinemia classic citrullinemia DOID:0070340 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym ASS deficiency DOID:9273 citrullinemia ASS deficiency DOID:9273 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym Yunis-Varon syndrome DOID:0060589 Yunis-Varon syndrome Yunis-Varon syndrome DOID:0060589 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 Yunis-Varon syndrome cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 @@ -9592,7 +9497,6 @@ MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy DOID:1116 MONDO:0009016 band keratopathy oio:hasExactSynonym band-shaped keratopathy band-shaped keratopathy Band-shaped keratopathy DOID:11164 band keratopathy band-shaped keratopathy DOID:11164 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym congenital hereditary endothelial dystrophy of cornea DOID:0060649 congenital hereditary endothelial dystrophy of cornea congenital hereditary endothelial dystrophy of cornea DOID:0060649 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED DOID:0060649 congenital hereditary endothelial dystrophy of cornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHED DOID:0060649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy DOID:2565 macular corneal dystrophy Fehr corneal dystrophy DOID:2565 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular dystrophy, corneal, 1 macular dystrophy, corneal, 1 MACULAR DYSTROPHY, CORNEAL, 1 DOID:2565 macular corneal dystrophy macular dystrophy, corneal, 1 DOID:2565 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy DOID:2565 macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy DOID:2565 @@ -9743,7 +9647,6 @@ MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym margarita type of ectodermal dysplasia margarita type of ectodermal dysplasia Margarita type of ectodermal dysplasia DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome margarita type of ectodermal dysplasia DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym Zlotogora-Ogur syndrome DOID:0080400 orofacial cleft 7 Zlotogora-Ogur syndrome DOID:0080400 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym ECTOL2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTOL2 DOID:0111149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym ectopia lentis et pupillae DOID:0111648 ectopia lentis with ectopia of pupil ectopia lentis et pupillae DOID:0111648 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym CHNG5 DOID:0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHNG5 DOID:0070125 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9883,7 +9786,6 @@ MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gaucher's disease type MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gba deficiency Gba deficiency Gba Deficiency DOID:0110957 Gaucher's disease type I Gba deficiency DOID:0110957 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I acid Beta-glucosidase deficiency DOID:0110957 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym GD I DOID:0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION GD I DOID:0110957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency acid beta-glucosidase deficiency DOID:1926 Gaucher's disease acid Beta-glucosidase deficiency DOID:1926 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher disease, acute neuronopathic type Gaucher disease, acute neuronopathic type Gaucher Disease, Acute Neuronopathic Type DOID:0110958 Gaucher's disease type II Gaucher disease, acute neuronopathic type DOID:0110958 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher's disease type II DOID:0110958 Gaucher's disease type II Gaucher's disease type II DOID:0110958 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile Cerebral Gaucher Disease DOID:0110958 Gaucher's disease type II infantile cerebral Gaucher disease DOID:0110958 @@ -10265,10 +10167,6 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym bilateral band-like calcification with polymicrogyria DOID:0050656 pseudo-TORCH syndrome 1 bilateral band-like calcification with polymicrogyria DOID:0050656 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 pseudo-TORCH syndrome 1 microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym BLC-PMG DOID:0050656 pseudo-TORCH syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION BLC-PMG DOID:0050656 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 Galloway syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 Galloway-Mowat syndrome 1 microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 nephrosis-microcephaly syndrome DOID:0060364 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 nephrosis-neuronal dysmigration syndrome DOID:0060364 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome DOID:0080694 Galloway-Mowat syndrome Galloway-Mowat syndrome DOID:0080694 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 DOID:0060840 isolated microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOP1 DOID:0060840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym Davidson disease DOID:0060775 microvillus inclusion disease Davidson disease DOID:0060775 @@ -10296,8 +10194,8 @@ MONDO:0009650 mucolipidosis type II oio:hasExactSynonym mucolipidosis II DOID MONDO:0009653 mucolipidosis type IV oio:hasExactSynonym mucolipidosis type IV DOID:0080490 mucolipidosis type IV mucolipidosis type IV DOID:0080490 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym Sanfilippo syndrome type A DOID:0111395 mucopolysaccharidosis type IIIA Sanfilippo syndrome type A DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym heparan sulfamidase deficiency DOID:0111395 mucopolysaccharidosis type IIIA heparan sulfamidase deficiency DOID:0111395 -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 +MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type 3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 3A DOID:0111395 MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym MPS3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS3A DOID:0111395 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10329,7 +10227,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym GALNS deficienc MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA Morquio syndrome A DOID:0111391 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis IVA DOID:0111391 mucopolysaccharidosis IVA mucopolysaccharidosis IVA DOID:0111391 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym MPS4A DOID:0111391 mucopolysaccharidosis IVA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS4A DOID:0111391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV galactosamine-6-sulfatase deficiency DOID:12804 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency Beta-D-galactosidase deficiency beta-D-galactosidase deficiency DOID:0111392 mucopolysaccharidosis type IVB Beta-D-galactosidase deficiency DOID:0111392 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio disease type B DOID:0111392 mucopolysaccharidosis type IVB Morquio disease type B DOID:0111392 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio syndrome B DOID:0111392 mucopolysaccharidosis type IVB Morquio syndrome B DOID:0111392 @@ -10671,7 +10568,6 @@ MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym desquamat MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym familial desquamative interstitial pneumonitis DOID:0050158 desquamative interstitial pneumonia familial desquamative interstitial pneumonitis DOID:0050158 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 desquamative interstitial pneumonia respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym RBILD DOID:0050158 desquamative interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RBILD DOID:0050158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 polycystic kidney disease, autosomal recessive DOID:0080212 MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym AR-PKD DOID:0110861 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-PKD DOID:0110861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym Osler-Vaquez syndrome DOID:8997 polycythemia vera Osler-Vaquez syndrome DOID:8997 MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym polycythaemia rubra vera polycythaemia rubra vera Polycythaemia rubra vera DOID:8997 polycythemia vera polycythaemia rubra vera DOID:8997 @@ -10718,7 +10614,6 @@ MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis DOID:008003 MONDO:0009943 Pyle disease oio:hasExactSynonym Bakwin-Krida syndrome DOID:0080019 metaphyseal dysplasia Bakwin-Krida syndrome DOID:0080019 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle's disease DOID:0080019 metaphyseal dysplasia Pyle's disease DOID:0080019 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle-Cohn syndrome DOID:0080019 metaphyseal dysplasia Pyle-Cohn syndrome DOID:0080019 -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym antiquitin deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 antiquitin deficiency DOID:0070519 MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyridoxine-dependent epilepsy DOID:0080768 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym deficiency of pyruvic carboxylase DOID:3651 pyruvate carboxylase deficiency disease deficiency of pyruvic carboxylase DOID:3651 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease DOID:3651 pyruvate carboxylase deficiency disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyruvate carboxylase deficiency disease DOID:3651 @@ -10726,7 +10621,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 pyruvate kinase deficiency of red cells hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte DOID:0111077 pyruvate kinase deficiency of red cells pyruvate kinase deficiency of erythrocyte DOID:0111077 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells DOID:0111077 pyruvate kinase deficiency of red cells pyruvate kinase deficiency of red cells DOID:0111077 -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome DOID:0070255 congenital disorder of glycosylation type IIc Rambam-Hasharon syndrome DOID:0070255 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG IIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDGIIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDGIIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10759,7 +10653,6 @@ MONDO:0009973 reticular dysgenesis oio:hasRelatedSynonym aleukocytosis DOID:0 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym FHL1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHL1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HPLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma interdigitating cell sarcoma Interdigitating cell sarcoma DOID:7848 interdigitating dendritic cell sarcoma interdigitating cell sarcoma DOID:7848 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym histiocytic lymphoma DOID:8538 reticulosarcoma histiocytic lymphoma DOID:8538 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym large-cell Lymphomas DOID:8538 reticulosarcoma large-cell Lymphomas DOID:8538 MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym reticulosarcoma DOID:8538 reticulosarcoma reticulosarcoma DOID:8538 @@ -10789,7 +10682,6 @@ MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS DOID:0070509 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome DOID:0050168 autoimmune polyendocrine syndrome type 2 Schmidt syndrome DOID:0050168 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym autoimmune polyendocrine syndrome type 2 DOID:0050168 autoimmune polyendocrine syndrome type 2 autoimmune polyendocrine syndrome type 2 DOID:0050168 MONDO:0010013 schneckenbecken dysplasia oio:hasExactSynonym schneckenbecken dysplasia DOID:0050775 schneckenbecken dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schneckenbecken dysplasia DOID:0050775 -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis sclerocornea with other ocular anomalies DOID:0060648 MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym anterior segment dysgenesis 7 DOID:0080612 anterior segment dysgenesis 7 anterior segment dysgenesis 7 DOID:0080612 MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym sclerosteosis 1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sclerosteosis 1 DOID:0060756 MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym SOST1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOST1 DOID:0060756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10893,7 +10785,6 @@ MONDO:0010088 mucosulfatidosis oio:hasExactSynonym mucosulfatidosis DOID:0050 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym Sulfocysteinuria Sulfocysteinuria sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency Sulfocysteinuria DOID:0111270 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency sulfocysteinuria DOID:0111270 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym isolated sulfite oxidase deficiency DOID:0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL isolated sulfite oxidase deficiency DOID:0111270 -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym Crisponi syndrome DOID:0060294 cold-induced sweating syndrome Crisponi syndrome DOID:0060294 MONDO:0010092 Filippi syndrome oio:hasExactSynonym Filippi syndrome DOID:0112194 Filippi syndrome Filippi syndrome DOID:0112194 MONDO:0010092 Filippi syndrome oio:hasExactSynonym type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 Filippi syndrome type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 MONDO:0010094 spondylocarpotarsal synostosis syndrome oio:hasExactSynonym congenital scoliosis with unilateral unsegmented bar DOID:0090116 spondylocarpotarsal synostosis syndrome congenital scoliosis with unilateral unsegmented bar DOID:0090116 @@ -10987,7 +10878,6 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSy MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria and homocystinuria type cblC DOID:0050715 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym cobalamin D deficiency cobalamin D deficiency Cobalamin D deficiency DOID:0050716 methylmalonic aciduria and homocystinuria type cblD cobalamin D deficiency DOID:0050716 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria and homocystinuria type cblD DOID:0050716 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym ataxia with isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E ataxia with isolated vitamin E deficiency DOID:0090028 MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym familial isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E familial isolated vitamin E deficiency DOID:0090028 MONDO:0010191 von Willebrand disease 3 oio:hasExactSynonym VWD type 3 DOID:0111054 von Willebrand's disease 3 VWD type 3 DOID:0111054 @@ -11199,8 +11089,8 @@ MONDO:0010300 intellectual disability, X-linked 53 oio:hasExactSynonym MRX53 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym Hypomelanosis of Ito Hypomelanosis of Ito hypomelanosis of Ito DOID:3156 hypomelanosis of Ito Hypomelanosis of Ito DOID:3156 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym hypomelanosis of Ito DOID:3156 hypomelanosis of Ito hypomelanosis of Ito DOID:3156 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym SLC6A8 deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 SLC6A8 deficiency DOID:0050800 -MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 +MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 DOID:0050800 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym creatine transporter deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL creatine transporter deficiency DOID:0050800 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym syndromic X-linked intellectual disability Cabezas type DOID:0060822 syndromic X-linked intellectual disability Cabezas type syndromic X-linked intellectual disability Cabezas type DOID:0060822 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 @@ -11215,7 +11105,6 @@ MONDO:0010309 intellectual disability, X-linked 42 oio:hasExactSynonym MRX42 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome DOID:0060886 osteopathia striata with cranial sclerosis Robinow-Unger syndrome DOID:0060886 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations DOID:0060886 osteopathia striata with cranial sclerosis hyperostosis generalisata with striations DOID:0060886 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym osteopathia striata with cranial sclerosis DOID:0060886 osteopathia striata with cranial sclerosis osteopathia striata with cranial sclerosis DOID:0060886 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD DOID:0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD DOID:0070527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy DOID:9883 Becker muscular dystrophy Becker muscular dystrophy DOID:9883 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy DOID:9883 Becker muscular dystrophy benign congenital myopathy DOID:9883 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign pseudohypertrophic muscular dystrophy benign pseudohypertrophic muscular dystrophy Benign pseudohypertrophic muscular dystrophy DOID:9883 Becker muscular dystrophy benign pseudohypertrophic muscular dystrophy DOID:9883 @@ -11431,7 +11320,6 @@ MONDO:0010478 SLC35A2-congenital disorder of glycosylation oio:hasExactSynonym MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym CMTX6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTX6 DOID:0110207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010481 angioedema oio:hasExactSynonym Quincke edema DOID:0060002 C1 inhibitor deficiency Quincke edema DOID:0060002 MONDO:0010481 angioedema oio:hasExactSynonym Quincke's edema DOID:1558 angioedema Quincke's edema DOID:1558 MONDO:0010481 angioedema oio:hasExactSynonym giant urticaria DOID:1558 angioedema giant urticaria DOID:1558 MONDO:0010482 X-linked parkinsonism-spasticity syndrome oio:hasExactSynonym XPDS DOID:0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XPDS DOID:0112105 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11481,13 +11369,10 @@ MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis imperfecta type IE DOID:0110058 amelogenesis imperfecta type 1E amelogenesis imperfecta type IE DOID:0110058 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym AIH1 DOID:0110058 amelogenesis imperfecta type 1E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIH1 DOID:0110058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E X-linked enamel hypoplasia DOID:0110058 -MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 X-linked enamel hypoplasia DOID:0110059 -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E X-linked enamel hypoplasia DOID:0110058 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta 3 hypoplastic type DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#DEPRECATED amelogenesis imperfecta 3 hypoplastic type DOID:0110059 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym AIH3 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIH3 DOID:0110059 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 X-linked enamel hypoplasia DOID:0110059 MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym Partington disease DOID:0111834 X-linked reticulate pigmentary disorder Partington disease DOID:0111834 -MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym PDR DOID:13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDR DOID:13207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia and ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and ataxia DOID:0050554 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia with ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia with ataxia DOID:0050554 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym anemia sideroblastic and spinocerebellar ataxia anemia sideroblastic and spinocerebellar ataxia Anemia sideroblastic and spinocerebellar ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia anemia sideroblastic and spinocerebellar ataxia DOID:0050554 @@ -11636,7 +11521,6 @@ MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogen storag MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogenosis type VIII DOID:2751 glycogen storage disease VIII glycogenosis type VIII DOID:2751 MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym hepatic glycogen phosphorylase kinase deficiency DOID:2751 glycogen storage disease VIII hepatic glycogen phosphorylase kinase deficiency DOID:2751 MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CDGX DOID:0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDGX DOID:0070195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CGD DOID:3265 chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD DOID:3265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010602 hemophilia A oio:hasExactSynonym Subhemophilia DOID:12134 factor VIII deficiency Subhemophilia DOID:12134 MONDO:0010602 hemophilia A oio:hasExactSynonym congenital factor VIII disorder congenital factor VIII disorder Congenital factor VIII disorder DOID:12134 factor VIII deficiency congenital factor VIII disorder DOID:12134 MONDO:0010602 hemophilia A oio:hasExactSynonym factor VIII deficiency DOID:12134 factor VIII deficiency factor VIII deficiency DOID:12134 @@ -11673,7 +11557,6 @@ MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked placen MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked recessive ichthyosis DOID:1700 X-linked ichthyosis X-linked recessive ichthyosis DOID:1700 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym X-linked hyper-IgM syndrome DOID:0060022 CD40 ligand deficiency X-linked hyper-IgM syndrome DOID:0060022 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGMX-1 DOID:0060022 CD40 ligand deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIGMX-1 DOID:0060022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome hyperimmunoglobulin M syndrome DOID:0080544 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyper-IgM syndrome type 1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hyper-IgM syndrome type 1 DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGM1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIGM1 DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym Bloch-Sulzberger syndrome DOID:12305 Bloch-Sulzberger syndrome Bloch-Sulzberger syndrome DOID:12305 @@ -11725,10 +11608,6 @@ MONDO:0010667 Prieto syndrome oio:hasExactSynonym X-linked intellectual disabil MONDO:0010669 syndactyly type 8 oio:hasExactSynonym fusion of metacarpals 4 and 5 DOID:0111813 syndactyly type 8 fusion of metacarpals 4 and 5 DOID:0111813 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym Lenz dysplasia DOID:0111799 syndromic microphthalmia 1 Lenz dysplasia DOID:0111799 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 DOID:0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS1 DOID:0111799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 MIDAS syndrome DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym syndromic microphthalmia type 7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 syndromic microphthalmia type 7 DOID:0111808 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MCOPS7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS7 DOID:0111808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MLS syndrome DOID:0111875 MLS syndrome MLS syndrome DOID:0111875 MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies DOID:0111875 MLS syndrome linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome DOID:12799 mucopolysaccharidosis II Hunter syndrome DOID:12799 @@ -11813,7 +11692,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS DOID:0060763 X- MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett's disorder DOID:1206 Rett syndrome Rett's disorder DOID:1206 MONDO:0010726 Rett syndrome oio:hasExactSynonym cerebroatrophic hyperammonemia DOID:1206 Rett syndrome cerebroatrophic hyperammonemia DOID:1206 MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome DOID:1206 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome DOID:1206 -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS DOID:2732 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS DOID:2732 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym X-linked spastic paraplegia 2 DOID:0110773 hereditary spastic paraplegia 2 X-linked spastic paraplegia 2 DOID:0110773 MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym spastic paraplegia type 2 DOID:0110773 hereditary spastic paraplegia 2 spastic paraplegia type 2 DOID:0110773 MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym SPG2 DOID:0110773 hereditary spastic paraplegia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG2 DOID:0110773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11866,7 +11744,6 @@ MONDO:0010800 Wolfram syndrome, mitochondrial form oio:hasExactSynonym Wolfram MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym Yorifuji-Okuno syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Yorifuji-Okuno syndrome DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 MONDO:0010803 Eiken syndrome oio:hasExactSynonym Eiken syndrome DOID:0111732 Eiken syndrome Eiken syndrome DOID:0111732 -MONDO:0010805 bladder exstrophy oio:hasExactSynonym Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex bladder exstrophy-epispadias-cloacal exstrophy complex DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex DOID:0080173 MONDO:0010805 bladder exstrophy oio:hasExactSynonym bladder exstrophy DOID:0080174 bladder exstrophy bladder exstrophy DOID:0080174 MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym retinitis pigmentosa 13 DOID:0110403 retinitis pigmentosa 13 retinitis pigmentosa 13 DOID:0110403 MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym RP13 DOID:0110403 retinitis pigmentosa 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP13 DOID:0110403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11966,8 +11843,6 @@ MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym f MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym pituitary adenoma, prolactin-secreting pituitary adenoma, prolactin-secreting PITUITARY ADENOMA, PROLACTIN-SECRETING DOID:5394 prolactinoma pituitary adenoma, prolactin-secreting DOID:5394 MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma DOID:5394 prolactinoma prolactinoma DOID:5394 MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma of pituitary gland prolactinoma of pituitary gland Prolactinoma of Pituitary gland DOID:5394 prolactinoma prolactinoma of pituitary gland DOID:5394 -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym Pkd3 Pkd3 pkd3 DOID:0080212 polycystic kidney disease 4 Pkd3 DOID:0080212 -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKD3 DOID:0080212 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease 3 DOID:0110860 polycystic kidney disease 3 polycystic kidney disease 3 DOID:0110860 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease, adult, type III polycystic kidney disease, adult, type III Polycystic Kidney Disease, Adult, Type III DOID:0110860 polycystic kidney disease 3 polycystic kidney disease, adult, type III DOID:0110860 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym APKD3 Apkd3 APKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION APKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11978,7 +11853,6 @@ MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym famili MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym hypocalciuric hypercalcemia type III DOID:0060702 familial hypocalciuric hypercalcemia 3 hypocalciuric hypercalcemia type III DOID:0060702 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym HHC3 DOID:0060702 familial hypocalciuric hypercalcemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHC3 DOID:0060702 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010927 orofacial cleft 3 oio:hasExactSynonym orofacial cleft 3 DOID:0080397 orofacial cleft 3 orofacial cleft 3 DOID:0080397 -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct enlarged vestibular aqueduct DOID:0050332 MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 oio:hasExactSynonym FTD3 DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FTD3 DOID:0111227 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010943 schizophrenia 4 oio:hasExactSynonym schizophrenia 4 DOID:0070080 schizophrenia 4 schizophrenia 4 DOID:0070080 MONDO:0010943 schizophrenia 4 oio:hasExactSynonym SCZD4 DOID:0070080 schizophrenia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD4 DOID:0070080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12012,7 +11886,6 @@ MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSyno MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym obesity with impaired prohormone processing DOID:0111698 proprotein convertase 1/3 deficiency obesity with impaired prohormone processing DOID:0111698 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym nonepidermolytic palmoplantar keratoderma DOID:0050428 nonepidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma DOID:0050428 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym NEPPK DOID:0050428 nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEPPK DOID:0050428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 Bothnian type palmoplantar keratoderma diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis Fraccaro type DOID:0080055 achondrogenesis type IB achondrogenesis Fraccaro type DOID:0080055 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis type IB DOID:0080055 achondrogenesis type IB http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achondrogenesis type IB DOID:0080055 MONDO:0010969 cone-rod dystrophy 5 oio:hasExactSynonym cone-rod dystrophy 5 DOID:0111010 cone-rod dystrophy 5 cone-rod dystrophy 5 DOID:0111010 @@ -12323,8 +12196,8 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym congenital m MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS Ic DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS Ic DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS5 DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS5 DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym EAD DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EAD DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 +MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mitochondrial DNA depletion syndrome 1 DOID:0080119 MONDO:0011284 astigmatism oio:hasExactSynonym astigmatism DOID:11782 astigmatism astigmatism DOID:11782 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym age related maculopathy 1 DOID:0110014 age related macular degeneration 1 age related maculopathy 1 DOID:0110014 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym ARMD1 DOID:0110014 age related macular degeneration 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMD1 DOID:0110014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12700,7 +12573,6 @@ MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS1A1 DO MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A DOID:0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS4A DOID:0110678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy DOID:0080718 GNE myopathy Nonaka myopathy DOID:0080718 MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy, Nonaka type distal myopathy, Nonaka type Distal myopathy, Nonaka type DOID:0080718 GNE myopathy distal myopathy, Nonaka type DOID:0080718 -MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy with rimmed vacuoles DOID:0081363 distal myopathy with rimmed vacuoles distal myopathy with rimmed vacuoles DOID:0081363 MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym atopic dermatitis 5 DOID:0110101 atopic dermatitis 5 atopic dermatitis 5 DOID:0110101 MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym ATOD5 DOID:0110101 atopic dermatitis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATOD5 DOID:0110101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym atopic dermatitis 6 DOID:0110102 atopic dermatitis 6 atopic dermatitis 6 DOID:0110102 @@ -12796,7 +12668,6 @@ MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 oio:hasExactSynonym MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 DOID:0060195 amyotrophic lateral sclerosis type 3 amyotrophic lateral sclerosis 3 DOID:0060195 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15 DOID:0050965 spinocerebellar ataxia type 15 spinocerebellar ataxia type 15 DOID:0050965 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 16 DOID:0050965 spinocerebellar ataxia type 15 spinocerebellar ataxia type 16 DOID:0050965 -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 DOID:0080029 autosomal recessive spinocerebellar ataxia 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 DOID:0080029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym Waardenburg syndrome type IIC DOID:0110951 Waardenburg syndrome type 2C Waardenburg syndrome type IIC DOID:0110951 MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym WS2C DOID:0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WS2C DOID:0110951 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym GNMT deficiency DOID:0111037 glycine N-methyltransferase deficiency GNMT deficiency DOID:0111037 @@ -12835,7 +12706,6 @@ MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym gastrointestin MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GANT gant GANT DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GANT DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GIST gist GIST DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GIST DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym spermatogenic failure 3 DOID:0070168 spermatogenic failure 3 spermatogenic failure 3 DOID:0070168 -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym Glucose Transporter Type 1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Syndrome glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome Glucose Transporter Type 1 Deficiency Syndrome DOID:0070560 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym De Vivo disease DOID:0070561 glucose transporter type 1 deficiency syndrome 1 De Vivo disease DOID:0070561 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym encephalopathy due to GLUT1 deficiency DOID:0070561 glucose transporter type 1 deficiency syndrome 1 encephalopathy due to GLUT1 deficiency DOID:0070561 MONDO:0011728 benign essential blepharospasm oio:hasExactSynonym blepharospasm DOID:529 blepharospasm blepharospasm DOID:529 @@ -12862,11 +12732,9 @@ MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym nephronophthisis 4 DOID: MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym NPHP4 DOID:0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHP4 DOID:0111115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 oio:hasExactSynonym EIG2 DOID:0111317 idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EIG2 DOID:0111317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011757 brachydactyly type A1B oio:hasExactSynonym BDA1B DOID:0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BDA1B DOID:0110974 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011758 Hurler syndrome oio:hasExactSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hurler syndrome DOID:12802 MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1H/S mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1H/S DOID:0111389 mucopolysaccharidosis Ih/s mucopolysaccharidosis type 1H/S DOID:0111389 MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPS1H/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPS1H/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPSIH/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSIH/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym Hurler-Scheie syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hurler-Scheie syndrome DOID:12802 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1S DOID:0060222 Scheie syndrome mucopolysaccharidosis type 1S DOID:0060222 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type IS DOID:0060222 Scheie syndrome mucopolysaccharidosis type IS DOID:0060222 MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type V DOID:0060222 Scheie syndrome mucopolysaccharidosis type V DOID:0060222 @@ -12881,7 +12749,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym dSMA3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION dSMA3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IId DOID:0070256 congenital disorder of glycosylation type IId congenital disorder of glycosylation type IId DOID:0070256 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2D DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 spondylometaepiphyseal dysplasia, Menger type DOID:0050640 MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia anauxetic dysplasia DOID:0080942 MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome CINCA Syndrome DOID:0090029 CINCA Syndrome CINCA syndrome DOID:0090029 MONDO:0011776 CINCA syndrome oio:hasExactSynonym IOMID syndrome DOID:0090029 CINCA Syndrome IOMID syndrome DOID:0090029 @@ -13052,7 +12919,6 @@ MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym monilethrix-like hypotrichosi MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym hypotrichosis 6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypotrichosis 6 DOID:0110703 MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym LAH1 Lah1 LAH1 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LAH1 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym HYPT6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT6 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011933 ALG2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ii congenital disorder of glycosylation type Ii congenital disorder of glycosylation type II DOID:0050571 congenital disorder of glycosylation type II congenital disorder of glycosylation type Ii DOID:0050571 MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibrosarcoma protuberans DOID:3507 dermatofibrosarcoma protuberans dermatofibrosarcoma protuberans DOID:3507 MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym retinitis pigmentosa 30 DOID:0110406 retinitis pigmentosa 30 retinitis pigmentosa 30 DOID:0110406 MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym RP30 DOID:0110406 retinitis pigmentosa 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP30 DOID:0110406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13257,7 +13123,6 @@ MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasE MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym SMD-CRD SmD-CRD SMD-CRD DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMD-CRD DOID:0112300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 patterned macular dystrophy 2 butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 DOID:0060864 patterned macular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDPT2 DOID:0060864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive DOID:0090014 MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA DOID:0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADSA DOID:0111170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13504,9 +13369,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym spinocerebella MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia 31 DOID:0110782 hereditary spastic paraplegia 31 autosomal dominant spastic paraplegia 31 DOID:0110782 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 DOID:0110782 hereditary spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 DOID:0110782 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 DOID:0110782 hereditary spastic paraplegia 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 DOID:0110782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome DOID:0060352 Kleefstra syndrome 1 9Q subtelomeric deletion syndrome DOID:0060352 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 9q-syndrome DOID:0060352 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q34 deletion syndrome DOID:0060352 Kleefstra syndrome 1 9q34 deletion syndrome DOID:0060352 MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome DOID:0080597 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary aphakia, congenital primary APHAKIA, CONGENITAL PRIMARY DOID:11367 congenital aphakia aphakia, congenital primary DOID:11367 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym congenital absence of lens congenital absence of lens Congenital absence of lens DOID:11367 congenital aphakia congenital absence of lens DOID:11367 @@ -14199,7 +14061,6 @@ MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O oio:has MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym LGMD2N DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LGMD2N DOID:0110298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym MDDGC2 DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDDGC2 DOID:0112382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym nephronophthisis-like nephropathy 1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nephronophthisis-like nephropathy 1 DOID:0111117 MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym NPHPL1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHPL1 DOID:0111117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym autosomal recessive spastic paraplegia 45 DOID:0110797 hereditary spastic paraplegia 45 autosomal recessive spastic paraplegia 45 DOID:0110797 @@ -15238,8 +15099,6 @@ MONDO:0014145 Leber congenital amaurosis 17 oio:hasExactSynonym LCA17 DOID:01 MONDO:0014146 autosomal dominant hypocalcemia 2 oio:hasExactSynonym HYPOC2 DOID:0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPOC2 DOID:0090108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 neuronal ceroid lipofuscinosis 13 neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym CLN13 DOID:0110727 neuronal ceroid lipofuscinosis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLN13 DOID:0110727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym childhood onset epileptic encephalopathy DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL childhood onset epileptic encephalopathy DOID:0060475 -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym EEOC DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEOC DOID:0060475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym developmental and epileptic encephalopathy 94 DOID:0081325 developmental and epileptic encephalopathy 94 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym cone-rod dystrophy 18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy 18 DOID:0111024 MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym CORD18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD18 DOID:0111024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15406,7 +15265,6 @@ MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 D MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 late onset DOID:0110051 Alzheimer's disease 19 Alzheimer disease 19 late onset DOID:0110051 MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer's disease 19 DOID:0110051 Alzheimer's disease 19 Alzheimer's disease 19 DOID:0110051 MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym AD19 DOID:0110051 Alzheimer's disease 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD19 DOID:0110051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym optic atrophy-intellectual disability syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome optic atrophy-intellectual disability syndrome DOID:0112226 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym BBSOAS DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BBSOAS DOID:0112226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15908,8 +15766,6 @@ MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynon MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 combined oxidative phosphorylation deficiency 28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym COXPD28 DOID:0111470 combined oxidative phosphorylation deficiency 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD28 DOID:0111470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014776 spinocerebellar ataxia type 42 oio:hasExactSynonym SCA42 DOID:0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA42 DOID:0111742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym HPMRS6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPMRS6 DOID:0070436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym combined oxidative phosphorylation deficiency 29 DOID:0111501 combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 29 DOID:0111501 MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym COXPD29 DOID:0111501 combined oxidative phosphorylation deficiency 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD29 DOID:0111501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2X DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X muscular dystrophy, limb-girdle, type 2X DOID:0110290 @@ -16115,9 +15971,7 @@ MONDO:0015131 combined immunodeficiency oio:hasExactSynonym combined immunodefi MONDO:0015131 combined immunodeficiency oio:hasExactSynonym congenital combined immunodeficiency congenital combined immunodeficiency Congenital Combined Immunodeficiency DOID:628 combined T cell and B cell immunodeficiency congenital combined immunodeficiency DOID:628 MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy DOID:0110273 autosomal dominant limb-girdle muscular dystrophy autosomal dominant limb-girdle muscular dystrophy DOID:0110273 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy DOID:0110274 autosomal recessive limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL autosomal recessive limb-girdle muscular dystrophy DOID:0110274 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita DOID:0050646 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita DOID:0080954 -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015183 short bowel syndrome oio:hasExactSynonym acquired short bowel syndrome DOID:10605 short bowel syndrome acquired short bowel syndrome DOID:10605 MONDO:0015183 short bowel syndrome oio:hasExactSynonym short gut syndrome DOID:10605 short bowel syndrome short gut syndrome DOID:10605 MONDO:0015194 sideroblastic anemia oio:hasExactSynonym anemia sideroblastic anemia sideroblastic ANEMIA SIDEROBLASTIC DOID:8955 sideroblastic anemia anemia sideroblastic DOID:8955 @@ -16135,8 +15989,6 @@ MONDO:0015243 allergic bronchopulmonary aspergillosis oio:hasExactSynonym pulmo MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Blackfan - Diamond syndrome DOID:1339 Diamond-Blackfan anemia Blackfan - Diamond syndrome DOID:1339 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym chronic constitutional pure red cell anaemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/OMO_0003005 chronic constitutional pure red cell anaemia DOID:1339 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Diamond-Blackfan anemia DOID:1339 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anemia DOID:1342 congenital hypoplastic anemia congenital hypoplastic anemia DOID:1342 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 congenital hypoplastic anaemia DOID:1342 MONDO:0015254 schistosomiasis oio:hasExactSynonym schistosomiasis DOID:1395 schistosomiasis schistosomiasis DOID:1395 MONDO:0015260 diphyllobothriasis oio:hasExactSynonym Diphyllobothrium infection DOID:10075 diphyllobothriasis Diphyllobothrium infection DOID:10075 MONDO:0015260 diphyllobothriasis oio:hasExactSynonym fish tapeworm DOID:10075 diphyllobothriasis fish tapeworm DOID:10075 @@ -16154,7 +16006,6 @@ MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic b MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 bronchiolitis obliterans organising pneumonia DOID:0050157 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym cryptogenic organising pneumonitis cryptogenic organising pneumonitis Cryptogenic organising pneumonitis DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 cryptogenic organising pneumonitis DOID:0050157 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOOP DOID:0050157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym bronchiolitis fibrosa obliterans bronchiolitis fibrosa obliterans Bronchiolitis fibrosa obliterans DOID:2799 bronchiolitis obliterans bronchiolitis fibrosa obliterans DOID:2799 MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome DOID:0060464 Feingold syndrome MODED syndrome DOID:0060464 MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome DOID:0060464 Feingold syndrome ODED syndrome DOID:0060464 @@ -16171,7 +16022,6 @@ MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym parafollicu MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym thyroid gland medullary carcinoma DOID:3973 medullary thyroid carcinoma thyroid gland medullary carcinoma DOID:3973 MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumor ultimobranchial thyroid tumor Ultimobranchial thyroid tumor DOID:3973 medullary thyroid carcinoma ultimobranchial thyroid tumor DOID:3973 MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumour ultimobranchial thyroid tumour Ultimobranchial thyroid tumour DOID:3973 medullary thyroid carcinoma http://purl.obolibrary.org/obo/OMO_0003005 ultimobranchial thyroid tumour DOID:3973 -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC DOID:0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMC DOID:0111529 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym chronic mucocutaneous candidiasis DOID:2058 chronic mucocutaneous candidiasis chronic mucocutaneous candidiasis DOID:2058 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome CFC syndrome DOID:0060233 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardio-facial-cutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome cardio-facial-cutaneous syndrome DOID:0060233 @@ -16189,7 +16039,6 @@ MONDO:0015306 Lemierre syndrome oio:hasExactSynonym postanginal sepsis DOID:1 MONDO:0015306 Lemierre syndrome oio:hasRelatedSynonym acute sore throat DOID:11337 Lemierre's syndrome acute sore throat DOID:11337 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym lipoid dermatoarthritis lipoid dermatoarthritis Lipoid dermatoarthritis DOID:11824 multicentric reticulohistiocytosis lipoid dermatoarthritis DOID:11824 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis DOID:11824 multicentric reticulohistiocytosis multicentric reticulohistiocytosis DOID:11824 -MONDO:0015352 distal hereditary motor neuropathy type 2 oio:hasExactSynonym DSMA2 dSMA2 DSMA2 DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSMA2 DOID:0111065 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym dHMN7 DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION dHMN7 DOID:0111199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasExactSynonym autosomal dominant dHMN DOID:0111198 autosomal dominant distal hereditary motor neuronopathy autosomal dominant dHMN DOID:0111198 @@ -16198,7 +16047,6 @@ MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasE MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy DOID:0111197 autosomal recessive distal hereditary motor neuronopathy autosomal recessive distal spinal muscular atrophy DOID:0111197 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy DOID:0050548 hereditary sensory neuropathy hereditary sensory and autonomic neuropathy DOID:0050548 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory neuropathy DOID:0050548 hereditary sensory neuropathy hereditary sensory neuropathy DOID:0050548 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain DOID:0081075 Marsili syndrome congenital insensitivity to pain DOID:0081075 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome Oral-Facial-Digital Syndrome DOID:4501 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome oral-facial-digital syndrome DOID:4501 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome DOID:4501 orofaciodigital syndrome orofaciodigital syndrome DOID:4501 @@ -16213,7 +16061,6 @@ MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia D MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome desbuquois syndrome Desbuquois syndrome DOID:0060462 Desbuquois dysplasia desbuquois syndrome DOID:0060462 MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 Desbuquois dysplasia micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 MONDO:0015447 differentiated thyroid carcinoma oio:hasExactSynonym differentiated thyroid gland carcinoma DOID:0080525 differentiated high-grade thyroid carcinoma differentiated thyroid gland carcinoma DOID:0080525 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 fifth digit syndrome DOID:0070042 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym dwarfism-onychodysplasia dwarfism-onychodysplasia Dwarfism-Onychodysplasia DOID:1925 Coffin-Siris syndrome dwarfism-onychodysplasia DOID:1925 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome fifth digit syndrome DOID:1925 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym short stature-onychodysplasia. short stature-onychodysplasia. Short Stature-Onychodysplasia. DOID:1925 Coffin-Siris syndrome short stature-onychodysplasia. DOID:1925 @@ -16221,7 +16068,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome DOID:0060216 Cogan syndrome Cogan syndrome DOID:0060216 MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan's syndrome DOID:0060216 Cogan syndrome Cogan's syndrome DOID:0060216 MONDO:0015453 Cogan syndrome oio:hasExactSynonym diffuse interstitual keratitis DOID:0060216 Cogan syndrome diffuse interstitual keratitis DOID:0060216 -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency multiple carboxylase deficiency DOID:857 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma DOID:9261 nasopharynx carcinoma nasopharyngeal carcinoma DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharynx carcinoma DOID:9261 nasopharynx carcinoma nasopharynx carcinoma DOID:9261 @@ -16272,12 +16118,10 @@ MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynony MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS DOID:0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VEODS DOID:0111840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015609 advanced sleep phase syndrome oio:hasExactSynonym familial advanced sleep-phase syndrome DOID:0050628 advanced sleep phase syndrome familial advanced sleep-phase syndrome DOID:0050628 MONDO:0015612 Dent disease oio:hasExactSynonym Dent's disease DOID:0050699 Dent disease Dent's disease DOID:0050699 -MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets DOID:0080353 X-linked recessive hypophosphatemic rickets X-linked recessive hypophosphatemic rickets DOID:0080353 MONDO:0015613 dentin dysplasia oio:hasExactSynonym dentinal dysplasia dentinal dysplasia Dentinal dysplasia DOID:701 dentin dysplasia dentinal dysplasia DOID:701 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym Duhring's disease DOID:8505 dermatitis herpetiformis Duhring's disease DOID:8505 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatitis herpetiformis DOID:8505 dermatitis herpetiformis dermatitis herpetiformis DOID:8505 MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatosis herpetiformis dermatosis herpetiformis Dermatosis herpetiformis DOID:8505 dermatitis herpetiformis dermatosis herpetiformis DOID:8505 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy DOID:0110152 Charcot-Marie-Tooth disease type 1B peroneal muscular atrophy DOID:0110152 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym CMT - Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease CMT - Charcot-Marie-Tooth disease DOID:10595 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease DOID:10595 MONDO:0015636 dirofilariasis oio:hasExactSynonym Dirofilaria infectious disease DOID:1082 dirofilariasis Dirofilaria infectious disease DOID:1082 @@ -16303,8 +16147,6 @@ MONDO:0015696 Good syndrome oio:hasExactSynonym thymoma with hypogammaglobuline MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy DOID:624 transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy DOID:624 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency oio:hasExactSynonym CD45 deficiency DOID:0060014 CD45 deficiency CD45 deficiency DOID:0060014 MONDO:0015705 autosomal recessive centronuclear myopathy oio:hasExactSynonym AR-CNM DOID:0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-CNM DOID:0111216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym Male infertility due to round-headed spermatozoa Male infertility due to round-headed spermatozoa male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 Male infertility due to round-headed spermatozoa DOID:0111156 -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 male infertility due to round-headed spermatozoa DOID:0111156 MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to globozoospermia DOID:0112312 male infertility due to globozoospermia male infertility due to globozoospermia DOID:0112312 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus White sponge nevus of Cannon DOID:0050448 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym hereditary mucosal leukokeratosis DOID:0050448 white sponge nevus hereditary mucosal leukokeratosis DOID:0050448 @@ -16317,7 +16159,6 @@ MONDO:0015766 cholera oio:hasExactSynonym cholera - Vibrio cholerae cholera - V MONDO:0015766 cholera oio:hasExactSynonym cholera due to Vibrio cholerae cholera due to Vibrio cholerae Cholera due to Vibrio cholerae DOID:1498 cholera cholera due to Vibrio cholerae DOID:1498 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata chondrodysplasia punctata, rhizomelic form DOID:2580 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata DOID:2580 rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL rhizomelic chondrodysplasia punctata DOID:2580 -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis oio:hasExactSynonym Mixed gonadal dysgenesis Mixed gonadal dysgenesis mixed gonadal dysgenesis DOID:14449 mixed gonadal dysgenesis Mixed gonadal dysgenesis DOID:14449 MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita DOID:2729 dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dyskeratosis congenita DOID:2729 MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor DOID:0050905 inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor DOID:0050905 MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym autosomal dominant non-syndromic mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal dominant non-syndromic mental retardation DOID:0060307 @@ -16357,7 +16198,6 @@ MONDO:0016006 Cockayne syndrome oio:hasExactSynonym Neill-Dingwall syndrome D MONDO:0016006 Cockayne syndrome oio:hasRelatedSynonym Cockayne's syndrome DOID:2962 Cockayne syndrome Cockayne's syndrome DOID:2962 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym alcohol-related neurodevelopmental disorder DOID:0050667 alcohol-related neurodevelopmental disorder alcohol-related neurodevelopmental disorder DOID:0050667 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARND DOID:0050667 alcohol-related neurodevelopmental disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARND DOID:0050667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym early myoclonic encephalopathy DOID:308 early myoclonic encephalopathy early myoclonic encephalopathy DOID:308 MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures - myoclonic epileptic seizures - myoclonic Epileptic seizures - myoclonic DOID:308 early myoclonic encephalopathy epileptic seizures - myoclonic DOID:308 MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures, myoclonic epileptic seizures, myoclonic Epileptic seizures, myoclonic DOID:308 early myoclonic encephalopathy epileptic seizures, myoclonic DOID:308 @@ -16407,7 +16247,6 @@ MONDO:0016239 cystinosis oio:hasExactSynonym cystine storage disease DOID:106 MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis DOID:1064 cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cystinosis DOID:1064 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood DOID:0050635 alternating hemiplegia of childhood alternating hemiplegia of childhood DOID:0050635 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia congenital adrenal hypoplasia DOID:0080156 X-linked adrenal hypoplasia congenita congenital adrenal Hypoplasia DOID:0080156 MONDO:0016242 hemoglobin C disease oio:hasExactSynonym Hb-C disease DOID:2859 hemoglobin C disease Hb-C disease DOID:2859 MONDO:0016243 hemoglobin E disease oio:hasExactSynonym Hb-E disease DOID:5379 hemoglobin E disease Hb-E disease DOID:5379 MONDO:0016243 hemoglobin E disease oio:hasExactSynonym hemoglobin E disease DOID:5379 hemoglobin E disease hemoglobin E disease DOID:5379 @@ -16516,7 +16355,6 @@ MONDO:0016681 gliosarcoma oio:hasExactSynonym gliosarcoma DOID:3071 gliosarco MONDO:0016682 giant cell glioblastoma oio:hasExactSynonym Monstrocellular sarcoma DOID:3074 giant cell glioblastoma Monstrocellular sarcoma DOID:3074 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym astrocytosis cerebri astrocytosis cerebri Astrocytosis cerebri DOID:6128 gliomatosis cerebri astrocytosis cerebri DOID:6128 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri DOID:6128 gliomatosis cerebri gliomatosis cerebri DOID:6128 -MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym malignant astrocytoma DOID:3069 malignant astrocytoma malignant astrocytoma DOID:3069 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym anaplastic astrocytoma DOID:3078 anaplastic astrocytoma anaplastic astrocytoma DOID:3078 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytic tumor grade III astrocytic tumor grade III Astrocytic tumor DOID:3078 anaplastic astrocytoma grade III astrocytic tumor DOID:3078 MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytoma DOID:3078 anaplastic astrocytoma grade III astrocytoma DOID:3078 @@ -16573,7 +16411,6 @@ MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumor MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 malignant triton tumor malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumour DOID:6707 malignant triton tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant Triton tumour DOID:6707 MONDO:0016759 pontocerebellar hypoplasia type 2 oio:hasExactSynonym PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia DOID:0050813 MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia DOID:0112280 MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia DOID:0112295 @@ -16647,8 +16484,6 @@ MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Lloyd's syndrom MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome DOID:14040 autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome DOID:14040 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy DOID:14040 autoimmune polyendocrine syndrome autoimmune polyendocrinopathy DOID:14040 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure DOID:14040 autoimmune polyendocrine syndrome autoimmune polyglandular failure DOID:14040 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome antiphospholipid syndrome DOID:2988 antiphospholipid syndrome Antiphospholipid Syndrome DOID:2988 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS DOID:2988 antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APS DOID:2988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease DOID:0060894 early-onset Parkinson's disease early-onset Parkinson disease DOID:0060894 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym alveolococcosis DOID:12148 alveolar echinococcosis alveolococcosis DOID:12148 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym multilocular hydatid multilocular hydatid Multilocular hydatid DOID:12148 alveolar echinococcosis multilocular hydatid DOID:12148 @@ -16661,7 +16496,6 @@ MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis DOID MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome DOID:0070330 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma plasmablastic lymphoma DOID:0080779 plasmablastic lymphoma Plasmablastic lymphoma DOID:0080779 MONDO:0017364 POEMS syndrome oio:hasExactSynonym POEMS syndrome DOID:14039 POEMS syndrome POEMS syndrome DOID:14039 -MONDO:0017364 POEMS syndrome oio:hasExactSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma osteosclerotic myeloma DOID:9541 MONDO:0017373 poliomyelitis oio:hasExactSynonym poliomyelitis DOID:4953 poliomyelitis poliomyelitis DOID:4953 MONDO:0017376 reactive arthritis oio:hasExactSynonym post-bacterial arthropathy post-bacterial arthropathy Post-bacterial arthropathy DOID:6196 reactive arthritis post-bacterial arthropathy DOID:6196 MONDO:0017376 reactive arthritis oio:hasExactSynonym postdysenteric arthropathy DOID:6196 reactive arthritis postdysenteric arthropathy DOID:6196 @@ -16693,7 +16527,6 @@ MONDO:0017572 tick-borne encephalitis oio:hasExactSynonym west-Siberian encepha MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome DOID:0060229 Baraitser-Winter syndrome Baraitser-Winter syndrome DOID:0060229 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym carcinoma of the pituitary gland carcinoma of the pituitary gland carcinoma of the Pituitary gland DOID:4916 pituitary carcinoma carcinoma of the pituitary gland DOID:4916 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym pituitary carcinoma DOID:4916 pituitary carcinoma pituitary carcinoma DOID:4916 -MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer DOID:10020 ampulla of Vater cancer ampulla of Vater cancer DOID:10020 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer ampulla of Vater cancer ampulla of vater cancer DOID:4932 ampulla of Vater carcinoma ampulla of Vater cancer DOID:4932 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater carcinoma DOID:4932 ampulla of Vater carcinoma ampulla of Vater carcinoma DOID:4932 MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampullary carcinoma DOID:4932 ampulla of Vater carcinoma ampullary carcinoma DOID:4932 @@ -16742,7 +16575,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease DOID:8541 Sezary's disease Sezary disease DOID:8541 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome DOID:8541 Sezary's disease Sezary syndrome DOID:8541 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease DOID:8541 Sezary's disease Sezary's disease DOID:8541 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome DOID:9476 Sheehan syndrome Sheehan Syndrome DOID:9476 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia figurata variabilis erythrokeratodermia figurata variabilis Erythrokeratodermia Figurata Variabilis DOID:0050467 erythrokeratodermia variabilis erythrokeratodermia figurata variabilis DOID:0050467 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis DOID:0050467 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym alveolitis DOID:841 extrinsic allergic alveolitis alveolitis DOID:841 @@ -16778,7 +16610,6 @@ MONDO:0018018 wild type ATTR amyloidosis oio:hasExactSynonym Senile systemic am MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym deficiency, Laki-Lorand factor DOID:2211 factor XIII deficiency deficiency, Laki-Lorand factor DOID:2211 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym factor XIII deficiency disease factor XIII deficiency disease Factor XIII deficiency disease DOID:2211 factor XIII deficiency factor XIII deficiency disease DOID:2211 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym hereditary factor XIII deficiency disease hereditary factor XIII deficiency disease Hereditary factor XIII deficiency disease DOID:2211 factor XIII deficiency hereditary factor XIII deficiency disease DOID:2211 -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome DOID:3261 hyper IgE recurrent infection syndrome 1 hyperimmunoglobulin E syndrome DOID:3261 MONDO:0018039 selective IgM deficiency oio:hasExactSynonym selective IgM deficiency disease DOID:0050222 selective IgM deficiency disease selective IgM deficiency disease DOID:0050222 MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym ATFB DOID:0050650 familial atrial fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATFB DOID:0050650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym childhood hepatocellular carcinoma DOID:0070322 childhood hepatocellular carcinoma childhood hepatocellular carcinoma DOID:0070322 @@ -16793,7 +16624,6 @@ MONDO:0018071 trisomy 18 oio:hasExactSynonym E3 trisomy E3 trisomy E3 Trisomy D MONDO:0018071 trisomy 18 oio:hasExactSynonym Edwards syndrome DOID:1085 Edwards syndrome Edwards syndrome DOID:1085 MONDO:0018071 trisomy 18 oio:hasExactSynonym complete trisomy 18 syndrome complete trisomy 18 syndrome Complete trisomy 18 syndrome DOID:1085 Edwards syndrome complete trisomy 18 syndrome DOID:1085 MONDO:0018071 trisomy 18 oio:hasExactSynonym trisomy 18 DOID:1085 Edwards syndrome trisomy 18 DOID:1085 -MONDO:0018075 neural tube defect oio:hasExactSynonym spinal dysraphism DOID:1089 tethered spinal cord syndrome spinal dysraphism DOID:1089 MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym benign paroxysmal peritonitis DOID:2987 familial Mediterranean fever benign paroxysmal peritonitis DOID:2987 MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF DOID:2987 familial Mediterranean fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMF DOID:2987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018089 double outlet right ventricle oio:hasExactSynonym Dextrotransposition of aorta DOID:6406 double outlet right ventricle Dextrotransposition of aorta DOID:6406 @@ -16814,8 +16644,6 @@ MONDO:0018097 West syndrome oio:hasRelatedSynonym Infantile spasms syndrome D MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym primary familial hypomagnesemia DOID:0060879 primary hypomagnesemia primary familial hypomagnesemia DOID:0060879 MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018102 corneal dystrophy oio:hasExactSynonym corneal dystrophy DOID:2566 corneal dystrophy corneal dystrophy DOID:2566 -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus AND insipidus with optic atrophy AND deafness DOID:0110629 Wolfram syndrome 1 diabetes mellitus and insipidus with optic atrophy and deafness DOID:0110629 -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym DIDMOAD DOID:0110629 Wolfram syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIDMOAD DOID:0110629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018105 Wolfram syndrome oio:hasExactSynonym Wolfram syndrome DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wolfram syndrome DOID:10632 MONDO:0018105 Wolfram syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria DOID:0060236 xanthinuria classic xanthinuria DOID:0060236 @@ -16829,8 +16657,6 @@ MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym Beta-galactosidase deficie MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym beta-galactosidase deficiency beta-galactosidase deficiency Beta-galactosidase deficiency DOID:3322 GM1 gangliosidosis beta-galactosidase deficiency DOID:3322 MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym deficiency of beta-galactosidase DOID:3322 GM1 gangliosidosis deficiency of beta-galactosidase DOID:3322 MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym gangliosidosis GM1 DOID:3322 GM1 gangliosidosis gangliosidosis GM1 DOID:3322 -MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency acid beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I acid beta-glucosidase deficiency DOID:0110957 -MONDO:0018150 Gaucher disease oio:hasExactSynonym glucocerebrosidase deficiency glucocerebrosidase deficiency Glucocerebrosidase Deficiency DOID:0110957 Gaucher's disease type I glucocerebrosidase deficiency DOID:0110957 MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher's disease DOID:1926 Gaucher's disease Gaucher's disease DOID:1926 MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency DOID:1926 Gaucher's disease acid beta-glucosidase deficiency DOID:1926 MONDO:0018150 Gaucher disease oio:hasExactSynonym glocucerebrosidase deficiency DOID:1926 Gaucher's disease glocucerebrosidase deficiency DOID:1926 @@ -16853,7 +16679,6 @@ MONDO:0018166 oral submucous fibrosis oio:hasExactSynonym oral submucosal fibro MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant germ cell tumor of ovary DOID:2155 malignant ovarian germ cell neoplasm malignant germ cell tumor of ovary DOID:2155 MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell neoplasm DOID:2155 malignant ovarian germ cell neoplasm malignant ovarian germ cell neoplasm DOID:2155 MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell tumor malignant ovarian germ cell tumor malignant Ovarian germ cell tumor DOID:2155 malignant ovarian germ cell neoplasm malignant ovarian germ cell tumor DOID:2155 -MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym ovarian germ cell cancer DOID:2156 ovarian germ cell cancer ovarian germ cell cancer DOID:2156 MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma DOID:3068 glioblastoma glioblastoma DOID:3068 MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme DOID:3068 glioblastoma glioblastoma multiforme DOID:3068 MONDO:0018177 glioblastoma oio:hasExactSynonym primary glioblastoma multiforme DOID:3068 glioblastoma primary glioblastoma multiforme DOID:3068 @@ -16878,11 +16703,8 @@ MONDO:0018233 otopalatodigital syndrome spectrum disorder oio:hasExactSynonym O MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis DOID:1934 dysostosis dysostosis DOID:1934 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing sarcoma DOID:4232 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing's sarcoma DOID:4232 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewing's tumor DOID:4985 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewing's tumour DOID:4985 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt & pepper syndrome DOID:0060470 salt and pepper syndrome salt & pepper syndrome DOID:0060470 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt-and-pepper syndrome DOID:0060470 salt and pepper syndrome salt-and-pepper syndrome DOID:0060470 -MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym CMD due to dystroglycanopathy DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 CMD due to dystroglycanopathy DOID:0050588 MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym muscular dystrophy-dystroglycanopathy DOID:0112374 muscular dystrophy-dystroglycanopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL muscular dystrophy-dystroglycanopathy DOID:0112374 MONDO:0018301 interstitial cystitis oio:hasExactSynonym ulcerative cystitis DOID:13949 interstitial cystitis ulcerative cystitis DOID:13949 MONDO:0018301 interstitial cystitis oio:hasExactSynonym chronic interstitial cystitis DOID:1678 chronic interstitial cystitis chronic interstitial cystitis DOID:1678 @@ -16947,8 +16769,6 @@ MONDO:0018408 cystic echinococcosis oio:hasExactSynonym lung echinococcus granu MONDO:0018408 cystic echinococcosis oio:hasExactSynonym thyroid echinococcus granulosus thyroid echinococcus granulosus Thyroid echinococcus granulosus DOID:1495 cystic echinococcosis thyroid echinococcus granulosus DOID:1495 MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular echinococcosis DOID:1495 cystic echinococcosis unilocular echinococcosis DOID:1495 MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular hydatid disease DOID:1495 cystic echinococcosis unilocular hydatid disease DOID:1495 -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym Hydatidosis Hydatidosis hydatidosis DOID:1496 echinococcosis Hydatidosis DOID:1496 -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym hydatid disease DOID:1496 echinococcosis hydatid disease DOID:1496 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia familial benign hypercalcemia DOID:0060699 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypocalciuric hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia familial benign hypocalciuric hypercalcemia DOID:0060699 MONDO:0018465 insulin autoimmune syndrome oio:hasExactSynonym Hirata disease DOID:0040100 Hirata disease Hirata disease DOID:0040100 @@ -16984,7 +16804,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym mucinous cyst MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma DOID:6827 pancreatic solid pseudopapillary carcinoma pancreatic solid pseudopapillary carcinoma DOID:6827 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym Marshall syndrome with periodic fever DOID:0081451 PFAPA syndrome Marshall syndrome with periodic fever DOID:0081451 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 PFAPA syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome diffuse cerebral sclerosis of Schilder DOID:0080122 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt Disease DOID:10588 adrenoleukodystrophy Siemerling-Creutzfeldt disease DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-Linked Adrenoleukodystrophy X-Linked Adrenoleukodystrophy X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy X-Linked Adrenoleukodystrophy DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy X-linked adrenoleukodystrophy DOID:10588 @@ -16994,7 +16813,6 @@ MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym encephalitis periaxialis MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis DOID:10588 adrenoleukodystrophy sudanophilic cerebral sclerosis DOID:10588 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym ALD DOID:10588 adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALD DOID:10588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism hypogonadotropic hypogonadism DOID:0090070 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome hypogonadotropic hypogonadism DOID:1921 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Eaton-Lambert syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome Eaton-Lambert syndrome DOID:0050214 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert-Eaton syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome Lambert-Eaton syndrome DOID:0050214 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym LEMS DOID:0050214 Lambert-Eaton myasthenic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LEMS DOID:0050214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17004,7 +16822,6 @@ MONDO:0018582 GCGR-related hyperglucagonemia oio:hasExactSynonym nesidioblastos MONDO:0018590 ABeta2M amyloidosis oio:hasExactSynonym Beta2-microglobulinic amyloidosis DOID:0080928 dialysis-related amyloidosis Beta2-microglobulinic amyloidosis DOID:0080928 MONDO:0018612 congenital hypothyroidism oio:hasExactSynonym congenital hypothyroidism DOID:0050328 congenital hypothyroidism congenital hypothyroidism DOID:0050328 MONDO:0018613 AH amyloidosis oio:hasExactSynonym heavy chain amyloidosis heavy chain amyloidosis Heavy chain amyloidosis DOID:0080934 immunoglobulin heavy chain amyloidosis heavy chain amyloidosis DOID:0080934 -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Primary sclerosing cholangitis primary sclerosing cholangitis DOID:0060643 primary sclerosing cholangitis Primary sclerosing cholangitis DOID:0060643 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym fibrosing cholangitis DOID:14268 sclerosing cholangitis fibrosing cholangitis DOID:14268 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis DOID:14268 sclerosing cholangitis sclerosing cholangitis DOID:14268 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease DOID:0060478 Zika fever Zika virus disease DOID:0060478 @@ -17016,7 +16833,6 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia DOID:005054 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus DOID:0050545 visceral heterotaxy situs ambiguus DOID:0050545 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym visceral heterotaxy DOID:0050545 visceral heterotaxy visceral heterotaxy DOID:0050545 MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym progressive spinal muscular atrophy DOID:318 progressive muscular atrophy progressive spinal muscular atrophy DOID:318 -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia DOID:9513 plasma cell leukemia plasma cell leukemia DOID:9513 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia DOID:9513 plasma cell leukemia plasmacytic leukemia DOID:9513 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukaemia DOID:9513 plasma cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 plasmacytic leukaemia DOID:9513 @@ -17044,7 +16860,6 @@ MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia w MONDO:0018770 Jeune syndrome oio:hasExactSynonym thoracic pelvic phalangeal dystrophy DOID:0050592 asphyxiating thoracic dystrophy thoracic pelvic phalangeal dystrophy DOID:0050592 MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome DOID:0050777 MONDO:0018772 Joubert syndrome oio:hasExactSynonym JBTS DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS DOID:0050777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018772 Joubert syndrome oio:hasExactSynonym cerebelloparenchymal disorder IV DOID:0110980 Joubert syndrome 1 cerebelloparenchymal disorder IV DOID:0110980 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease intermediate type Charcot-Marie-Tooth disease intermediate type DOID:0050543 MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman syndrome DOID:3614 Kallmann syndrome Kallman syndrome DOID:3614 MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman's syndrome DOID:3614 Kallmann syndrome Kallman's syndrome DOID:3614 @@ -17063,7 +16878,6 @@ MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym CBA D MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma central nervous system embryonal carcinoma DOID:7232 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal carcinoma of CNS DOID:7232 central nervous system embryonal carcinoma embryonal carcinoma of CNS DOID:7232 MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta DOID:4154 dentinogenesis imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dentinogenesis imperfecta DOID:4154 -MONDO:0018852 achromatopsia oio:hasExactSynonym Pingelapese blindness DOID:0110008 achromatopsia 3 Pingelapese blindness DOID:0110008 MONDO:0018852 achromatopsia oio:hasExactSynonym monochromatism monochromatism Monochromatism DOID:13911 achromatopsia monochromatism DOID:13911 MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achromatopsia DOID:13911 MONDO:0018852 achromatopsia oio:hasExactSynonym ACHM DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACHM DOID:13911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17096,12 +16910,10 @@ MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym sarcoma, breast, leukaem MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome DOID:3012 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LFS DOID:3012 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma DOID:0050746 mantle cell lymphoma mantle cell lymphoma DOID:0050746 -MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM DOID:12155 lymphocytic choriomeningitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCM DOID:12155 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018878 branchiootic syndrome oio:hasExactSynonym bo syndrome bo syndrome BO syndrome DOID:0060232 branchiootic syndrome bo syndrome DOID:0060232 MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia DOID:0060232 branchiootic syndrome branchiootic dysplasia DOID:0060232 MONDO:0018878 branchiootic syndrome oio:hasExactSynonym BOR bor BOR DOID:0060232 branchiootic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOR DOID:0060232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome DOID:0050908 myelodysplastic syndrome myelodysplastic syndrome DOID:0050908 -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS DOID:0060469 Miller-Dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS DOID:0060469 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018889 hyaline body myopathy oio:hasExactSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy myosin storage myopathy DOID:0111267 MONDO:0018896 thrombotic thrombocytopenic purpura oio:hasExactSynonym Moschcowitz's syndrome DOID:10772 thrombotic thrombocytopenic purpura Moschcowitz's syndrome DOID:10772 MONDO:0018901 left ventricular noncompaction oio:hasExactSynonym left ventricular hypertrabeculation DOID:0060480 left ventricular noncompaction left ventricular hypertrabeculation DOID:0060480 @@ -17205,7 +17017,6 @@ MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym brittle bone disease MONDO:0019019 osteogenesis imperfecta oio:hasRelatedSynonym Fragilitas ossium DOID:12347 osteogenesis imperfecta Fragilitas ossium DOID:12347 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis DOID:3663 cutaneous mastocytosis cutaneous mastocytosis DOID:3663 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS DOID:0060815 Miles-Carpenter syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCS DOID:0060815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast-cell sarcoma DOID:355 mast-cell sarcoma mast-cell sarcoma DOID:355 MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma DOID:4659 extracutaneous mastocytoma extracutaneous mastocytoma DOID:4659 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome DOID:678 progressive supranuclear palsy Steele-Richardson-Olszewski syndrome DOID:678 @@ -17236,8 +17047,6 @@ MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocar MONDO:0019082 bullous pemphigoid oio:hasExactSynonym bullous pemphigoid DOID:8506 bullous pemphigoid bullous pemphigoid DOID:8506 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus DOID:1107 esophageal carcinoma carcinoma of esophagus DOID:1107 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma DOID:1107 esophageal carcinoma esophageal carcinoma DOID:1107 -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym Esophageal cancer Esophageal cancer esophageal cancer DOID:5041 esophageal cancer Esophageal cancer DOID:5041 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA DOID:0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA DOID:0111595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocarcinoma adult primary cholangiocarcinoma adult primary Cholangiocarcinoma DOID:4947 cholangiocarcinoma adult primary cholangiocarcinoma DOID:4947 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocellular carcinoma DOID:4947 cholangiocarcinoma adult primary cholangiocellular carcinoma DOID:4947 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma DOID:4947 cholangiocarcinoma cholangiocarcinoma DOID:4947 @@ -17369,7 +17178,6 @@ MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio: MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym junctional epidermolysis bullosa, Disentis type DOID:0060738 junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, Disentis type DOID:0060738 MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym JEB-nH gen DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION JEB-nH gen DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym GABEB DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GABEB DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome hepatopulmonary syndrome DOID:900 hepatopulmonary syndrome Hepatopulmonary Syndrome DOID:900 MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema DOID:0050580 hereditary lymphedema hereditary lymphedema DOID:0050580 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis DOID:3665 diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis DOID:3665 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa urticaria pigmentosa DOID:12309 @@ -17377,7 +17185,6 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM MONDO:0019338 sarcoidosis oio:hasExactSynonym Boeck sarcoid DOID:11335 sarcoidosis Boeck sarcoid DOID:11335 MONDO:0019338 sarcoidosis oio:hasExactSynonym lymphogranulomatosis DOID:11335 sarcoidosis lymphogranulomatosis DOID:11335 MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoidosis DOID:11335 sarcoidosis sarcoidosis DOID:11335 -MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma scleroderma Scleroderma DOID:418 systemic scleroderma scleroderma DOID:418 MONDO:0019340 scleroderma oio:hasExactSynonym dermatosclerosis DOID:419 scleroderma dermatosclerosis DOID:419 MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma DOID:419 scleroderma scleroderma DOID:419 MONDO:0019342 Seckel syndrome oio:hasExactSynonym Harper's syndrome DOID:0050569 Seckel syndrome Harper's syndrome DOID:0050569 @@ -17390,7 +17197,6 @@ MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin DOID:0 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym familial continuous skin peeling syndrome DOID:0060283 peeling skin syndrome familial continuous skin peeling syndrome DOID:0060283 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym keratosis exfoliativa congenita DOID:0060283 peeling skin syndrome keratosis exfoliativa congenita DOID:0060283 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym peeling skin disease DOID:0060283 peeling skin syndrome peeling skin disease DOID:0060283 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome 1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED Sotos syndrome 1 DOID:0112103 MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism DOID:14748 Sotos syndrome cerebral gigantism DOID:14748 MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome DOID:14748 Sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sotos syndrome DOID:14748 @@ -17403,7 +17209,6 @@ MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Adult-Onset Still's MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult onset Still's disease DOID:14256 adult-onset Still's disease adult onset Still's disease DOID:14256 MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still disease DOID:14256 adult-onset Still's disease adult-onset Still disease DOID:14256 MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still's disease DOID:14256 adult-onset Still's disease adult-onset Still's disease DOID:14256 -MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Wissler-Fanconi syndrome DOID:3047 Wissler-Fanconi syndrome Wissler-Fanconi syndrome DOID:3047 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Brazilian spotted DOID:0050052 Rocky Mountain spotted fever Brazilian spotted DOID:0050052 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Choix DOID:0050052 Rocky Mountain spotted fever Choix DOID:0050052 MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Fiebre maculosa DOID:0050052 Rocky Mountain spotted fever Fiebre maculosa DOID:0050052 @@ -17416,7 +17221,6 @@ MONDO:0019360 rickettsialpox oio:hasExactSynonym Rickettsia akari spotted fever MONDO:0019360 rickettsialpox oio:hasExactSynonym vesicular rickettsiosis vesicular rickettsiosis Vesicular rickettsiosis DOID:11103 rickettsialpox vesicular rickettsiosis DOID:11103 MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus DOID:0050480 epidemic typhus epidemic typhus DOID:0050480 MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym sylvatic typhus DOID:0050480 epidemic typhus sylvatic typhus DOID:0050480 -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic louse-borne typhus DOID:11256 typhus epidemic louse-borne typhus DOID:11256 MONDO:0019365 scrub typhus oio:hasExactSynonym Japanese river fever DOID:13371 scrub typhus Japanese river fever DOID:13371 MONDO:0019365 scrub typhus oio:hasExactSynonym Kedani fever DOID:13371 scrub typhus Kedani fever DOID:13371 MONDO:0019365 scrub typhus oio:hasExactSynonym scrub mite-borne typhus scrub mite-borne typhus Scrub mite-borne typhus DOID:13371 scrub typhus scrub mite-borne typhus DOID:13371 @@ -17447,7 +17251,6 @@ MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym ADEM D MONDO:0019384 encephalitis lethargica oio:hasExactSynonym encephalitis lethargica encephalitis lethargica Encephalitis lethargica DOID:5225 von Economo's disease encephalitis lethargica DOID:5225 MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo disease DOID:5225 von Economo's disease von Economo disease DOID:5225 MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo's disease DOID:5225 von Economo's disease von Economo's disease DOID:5225 -MONDO:0019384 encephalitis lethargica oio:hasExactSynonym epidemic encephalitis DOID:646 viral encephalitis epidemic encephalitis DOID:646 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi pancytopenia DOID:13636 Fanconi anemia Fanconi pancytopenia DOID:13636 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi panmyelopathy DOID:13636 Fanconi anemia Fanconi panmyelopathy DOID:13636 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi's anemia DOID:13636 Fanconi anemia Fanconi's anemia DOID:13636 @@ -17494,11 +17297,9 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer cell leukaemia natural Killer cell leukaemia natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 natural Killer cell leukaemia DOID:1035 MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 natural killer cell leukaemia DOID:1035 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia DOID:0050523 -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma adult t-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL DOID:5602 T-cell adult acute lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLL DOID:5602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma DOID:0050523 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma nasal type extranodal NK/T-cell lymphoma DOID:0080797 nasal type extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma DOID:0080797 -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym lethal midline granuloma DOID:9072 lethal midline granuloma lethal midline granuloma DOID:9072 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma DOID:0080915 histiocytic sarcoma histiocytic sarcoma DOID:0080915 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma DOID:7146 Langerhans cell sarcoma Langerhans cell sarcoma DOID:7146 MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferation DOID:5821 methotrexate-associated lymphoproliferation methotrexate-associated lymphoproliferation DOID:5821 @@ -17517,7 +17318,6 @@ MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, MONDO:0019499 Turner syndrome oio:hasExactSynonym monosomy X syndrome DOID:3491 Turner syndrome monosomy X syndrome DOID:3491 MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal recessive mental retardation DOID:0060308 MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive non-syndromic mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED autosomal recessive non-syndromic mental retardation DOID:0060308 -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 anterior segment mesenchymal dysgenesis DOID:0110122 MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym familial exudative vitreoretinopathy DOID:0050535 exudative vitreoretinopathy familial exudative vitreoretinopathy DOID:0050535 MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym FEVR DOID:0050535 exudative vitreoretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FEVR DOID:0050535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019537 hemoglobin D disease oio:hasExactSynonym Hb-D disease DOID:5378 hemoglobin D disease Hb-D disease DOID:5378 @@ -17535,7 +17335,6 @@ MONDO:0019562 localized scleroderma oio:hasExactSynonym morphea morphea Morphea MONDO:0019562 localized scleroderma oio:hasExactSynonym Scleroderma, circumscribed or localised DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 Scleroderma, circumscribed or localised DOID:8472 MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 localised morphea DOID:8472 MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphoea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 localised morphoea DOID:8472 -MONDO:0019563 CREST syndrome oio:hasExactSynonym limited cutaneous Systemic sclerosis limited cutaneous Systemic sclerosis Limited cutaneous systemic sclerosis DOID:1577 limited scleroderma limited cutaneous Systemic sclerosis DOID:1577 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym vascular pseudohemophilia DOID:12531 von Willebrand's disease vascular pseudohemophilia DOID:12531 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym von Willebrand-Jrgens disease DOID:12531 von Willebrand's disease von Willebrand-Jrgens disease DOID:12531 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 1 DOID:14720 Ehlers-Danlos syndrome classic type 1 Ehlers-Danlos syndrome, type 1 DOID:14720 @@ -17631,7 +17430,6 @@ MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma DOID:5574 VIPoma VIPoma D MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma, malignant VIPoma, malignant Vipoma, malignant DOID:5574 VIPoma VIPoma, malignant DOID:5574 MONDO:0019960 VIPoma oio:hasExactSynonym malignant vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma malignant vasoactive intestinal peptide-secreting tumor DOID:5574 MONDO:0019960 VIPoma oio:hasExactSynonym vasoactive intestinal peptide-secreting tumor vasoactive intestinal peptide-secreting tumor Vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma vasoactive intestinal peptide-secreting tumor DOID:5574 -MONDO:0019960 VIPoma oio:hasExactSynonym Verner-Morrison syndrome DOID:6977 pancreatic cholera Verner-Morrison syndrome DOID:6977 MONDO:0019962 thyroid lymphoma oio:hasExactSynonym thyroid lymphoma DOID:10011 thyroid lymphoma thyroid lymphoma DOID:10011 MONDO:0019975 pellagra oio:hasExactSynonym niacin deficiency niacin deficiency Niacin deficiency DOID:8457 pellagra niacin deficiency DOID:8457 MONDO:0019975 pellagra oio:hasExactSynonym niacin-tryptophan deficiency niacin-tryptophan deficiency Niacin-tryptophan deficiency DOID:8457 pellagra niacin-tryptophan deficiency DOID:8457 @@ -17653,7 +17451,6 @@ MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemol MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked intellectual disability DOID:0060309 syndromic X-linked intellectual disability syndromic X-linked intellectual disability DOID:0060309 MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked mental retardation DOID:0060309 syndromic X-linked intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED syndromic X-linked mental retardation DOID:0060309 MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease DOID:231 motor neuron disease motor neuron disease DOID:231 -MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease DOID:4873 anterior horn cell disease anterior horn cell disease DOID:4873 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pontocerebellar hypoplasia DOID:0060264 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH DOID:0060264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020143 cerebral lipidosis with dementia oio:hasExactSynonym cerebral lipidosis DOID:10742 cerebral lipidosis cerebral lipidosis DOID:10742 @@ -17686,7 +17483,6 @@ MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventr MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym Schlichting dystrophy DOID:0060457 posterior polymorphous corneal dystrophy Schlichting dystrophy DOID:0060457 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym hereditary polymorphus posterior corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy hereditary polymorphus posterior corneal dystrophy DOID:0060457 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym PPCD DOID:0060457 posterior polymorphous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPCD DOID:0060457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020366 congenital glaucoma oio:hasExactSynonym buphthalmos DOID:11211 buphthalmos buphthalmos DOID:11211 MONDO:0020366 congenital glaucoma oio:hasExactSynonym hydrophthalmos DOID:11212 hydrophthalmos hydrophthalmos DOID:11212 MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym glaucoma of childhood glaucoma of childhood Glaucoma of childhood DOID:1068 juvenile glaucoma glaucoma of childhood DOID:1068 MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym juvenile glaucoma DOID:1068 juvenile glaucoma juvenile glaucoma DOID:1068 @@ -17720,8 +17516,6 @@ MONDO:0020502 yellow fever oio:hasExactSynonym Yellow fever, sylvan DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym jungle yellow fever DOID:9682 yellow fever jungle yellow fever DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym sylvatic yellow fever sylvatic yellow fever Sylvatic yellow fever DOID:9682 yellow fever sylvatic yellow fever DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym urban yellow fever DOID:9682 yellow fever urban yellow fever DOID:9682 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter vanishing white matter leukodystrophy DOID:0060868 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym spermatocytic seminoma DOID:5834 spermatocytoma spermatocytic seminoma DOID:5834 MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocytic seminoma DOID:7891 testicular spermatocytic seminoma testicular spermatocytic seminoma DOID:7891 MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus DOID:0060334 transient neonatal diabetes mellitus transient neonatal diabetes mellitus DOID:0060334 @@ -17798,11 +17592,9 @@ MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym spermatogenic failur MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym SPGF32 DOID:0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF32 DOID:0111925 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020857 ovarian dysgenesis 7 oio:hasExactSynonym OVARIAN DYSGENESIS 7 OVARIAN DYSGENESIS 7 ovarian dysgenesis 7 DOID:0080499 ovarian dysgenesis 7 OVARIAN DYSGENESIS 7 DOID:0080499 MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym MC5DN5 DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MC5DN5 DOID:0070463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym mitochondrial complex v (atp synthase) deficiency mitochondrial complex v (atp synthase) deficiency mitochondrial complex V (ATP synthase) deficiency DOID:0111143 mitochondrial complex V (ATP synthase) deficiency mitochondrial complex v (atp synthase) deficiency DOID:0111143 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym symptomatic form of hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 symptomatic form of hemochromatosis type 1 DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hemochromatosis type 1 DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFE1 DOID:0111029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis DOID:2352 hemochromatosis hemochromatosis DOID:2352 MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly DOID:1148 polydactyly polydactyly DOID:1148 MONDO:0021003 polydactyly oio:hasRelatedSynonym supernumerary digit supernumerary digit Supernumerary digit DOID:1148 polydactyly supernumerary digit DOID:1148 MONDO:0021004 brachydactyly oio:hasExactSynonym brachydactyly DOID:0050581 brachydactyly brachydactyly DOID:0050581 @@ -17815,21 +17607,15 @@ MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym familial startle dis MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym hereditary hyperekplexia DOID:0060695 hyperekplexia hereditary hyperekplexia DOID:0060695 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym startle disease DOID:0060695 hyperekplexia startle disease DOID:0060695 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 DOID:0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED alopecia-mental retardation syndrome 1 DOID:0080628 -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 extraosseous Ewing sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 MONDO:0021048 benign mastocytoma oio:hasExactSynonym benign mastocytoma DOID:4658 benign mastocytoma benign mastocytoma DOID:4658 MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma DOID:0080639 bone sarcoma bone sarcoma DOID:0080639 -MONDO:0021054 bone sarcoma oio:hasExactSynonym skeletal sarcoma skeletal sarcoma Skeletal sarcoma DOID:3347 osteosarcoma skeletal sarcoma DOID:3347 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis Familial Adenomatous Polyposis DOID:0050424 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis adenomatous polyposis of the colon DOID:0050424 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis familial adenomatous polyposis DOID:0050424 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 DOID:0080409 familial adenomatous polyposis 1 familial adenomatous polyposis 1 DOID:0080409 MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy DOID:0080690 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL RASopathy DOID:0080690 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis acoustic neurofibromatosis DOID:0111252 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis central neurofibromatosis DOID:0111252 vestibular schwannomatosis central Neurofibromatosis DOID:0111252 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym Recklinghausen's neurofibromatosis DOID:0111253 neurofibromatosis 1 Recklinghausen's neurofibromatosis DOID:0111253 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis DOID:0111253 neurofibromatosis 1 peripheral Neurofibromatosis DOID:0111253 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis DOID:8712 neurofibromatosis neurofibromatosis DOID:8712 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer DOID:219 colon cancer colon cancer DOID:219 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor DOID:170 endocrine gland cancer Endocrine tumor DOID:170 @@ -17860,7 +17646,6 @@ MONDO:0021167 myositis disease oio:hasExactSynonym inflammatory disorder of mus MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid haemangioma DOID:474 histiocytoid hemangioma epithelioid haemangioma DOID:474 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma DOID:474 histiocytoid hemangioma epithelioid hemangioma DOID:474 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma DOID:474 histiocytoid hemangioma histiocytoid hemangioma DOID:474 -MONDO:0021259 prostate neoplasm oio:hasExactSynonym tumor of the prostate DOID:10283 prostate cancer tumor of the prostate DOID:10283 MONDO:0021439 benign neoplasm of pituitary gland oio:hasExactSynonym pituitary gland benign neoplasm DOID:60009 pituitary gland benign neoplasm pituitary gland benign neoplasm DOID:60009 MONDO:0021441 benign neoplasm of exocrine pancreas oio:hasExactSynonym benign exocrine pancreas neoplasm DOID:0080781 benign exocrine pancreas neoplasm benign exocrine pancreas neoplasm DOID:0080781 MONDO:0021443 benign neoplasm of lymph node oio:hasExactSynonym lymph node benign neoplasm DOID:0080617 lymph node benign neoplasm lymph node benign neoplasm DOID:0080617 @@ -17906,7 +17691,6 @@ MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasE MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasExactSynonym DSPD DOID:0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSPD DOID:0111141 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024432 nerve plexus disorder oio:hasExactSynonym plexopathy DOID:3688 plexopathy plexopathy DOID:3688 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym DRS1 DOID:0060766 autosomal dominant Robinow syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DRS1 DOID:0060766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym iridogoniodysgenesis type 1 DOID:0050786 iridogoniodysgenesis syndrome iridogoniodysgenesis type 1 DOID:0050786 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym anterior segment dysgenesis 3 DOID:0080608 anterior segment dysgenesis 3 anterior segment dysgenesis 3 DOID:0080608 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy 1 infantile neuroaxonal dystrophy 1 Infantile Neuroaxonal Dystrophy 1 DOID:0110735 neurodegeneration with brain iron accumulation 2a infantile neuroaxonal dystrophy 1 DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2a DOID:0110735 neurodegeneration with brain iron accumulation 2a neurodegeneration with brain iron accumulation 2A DOID:0110735 @@ -17915,13 +17699,11 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated Neurodegeneration, Pla2g6-Associated DOID:0110735 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2g6-associated DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2a NBIA2A NBIA2a DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA2a DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 DOID:0080493 ovarian dysgenesis 1 ovarian dysgenesis 1 DOID:0080493 -MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever South African tick-bite fever DOID:0050035 MONDO:0024472 boutonneuse fever oio:hasExactSynonym African tick typhus DOID:14095 boutonneuse fever African tick typhus DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym Kenya tick typhus Kenya tick typhus kenya tick typhus DOID:14095 boutonneuse fever Kenya tick typhus DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever DOID:14095 boutonneuse fever South African tick-bite fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym boutonneuse fever DOID:14095 boutonneuse fever boutonneuse fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasExactSynonym marseilles fever DOID:14095 boutonneuse fever marseilles fever DOID:14095 -MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym neoplasm of liver DOID:3571 liver cancer neoplasm of liver DOID:3571 MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 liver benign neoplasm epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 MONDO:0024507 aniridia 1 oio:hasExactSynonym aniridia 1 DOID:0070532 aniridia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL aniridia 1 DOID:0070532 MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym schwannomatosis 1 DOID:0070480 schwannomatosis 1 schwannomatosis 1 DOID:0070480 @@ -17933,7 +17715,6 @@ MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Via MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brown-Vialetto-van Laere syndrome 1 DOID:0080785 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym TRICHOHEPATOENTERIC syndrome 1 TRICHOHEPATOENTERIC syndrome 1 trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 TRICHOHEPATOENTERIC syndrome 1 DOID:0111415 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL trichohepatoenteric syndrome 1 DOID:0111415 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasRelatedSynonym dysequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome dysequilibrium syndrome DOID:0050997 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym inflammatory peeling skin syndrome DOID:0070520 peeling skin syndrome 1 inflammatory peeling skin syndrome DOID:0070520 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome 1 DOID:0070520 peeling skin syndrome 1 peeling skin syndrome 1 DOID:0070520 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome type B DOID:0070520 peeling skin syndrome 1 peeling skin syndrome type B DOID:0070520 @@ -17950,13 +17731,11 @@ MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulva squamous MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar epidermoid carcinoma vulvar epidermoid carcinoma Vulvar Epidermoid carcinoma DOID:2101 vulva squamous cell carcinoma vulvar epidermoid carcinoma DOID:2101 MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar squamous cell carcinoma DOID:2101 vulva squamous cell carcinoma vulvar squamous cell carcinoma DOID:2101 MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma thyroid gland adenocarcinoma DOID:0080524 -MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid adenocarcinoma thyroid adenocarcinoma Thyroid adenocarcinoma DOID:3962 follicular thyroid carcinoma thyroid adenocarcinoma DOID:3962 MONDO:0024647 urolithiasis oio:hasExactSynonym urolithiasis DOID:0080653 urolithiasis urolithiasis DOID:0080653 MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym insulinoma DOID:3892 insulinoma insulinoma DOID:3892 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse giant cell tumor of Tenosynovium diffuse giant cell tumor of Tenosynovium Diffuse Giant cell tumor of Tenosynovium DOID:2702 pigmented villonodular synovitis diffuse giant cell tumor of Tenosynovium DOID:2702 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis DOID:2702 pigmented villonodular synovitis pigmented villonodular synovitis DOID:2702 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym villous tenosynovitis DOID:2702 pigmented villonodular synovitis villous tenosynovitis DOID:2702 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor DOID:314 MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type oio:hasExactSynonym MRXSP DOID:0070422 syndromic X-linked intellectual disability Pilorge type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRXSP DOID:0070422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024773 spermatogenic failure, X-linked, 4 oio:hasExactSynonym SPGFX4 DOID:0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGFX4 DOID:0070595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024889 benign mesonephroma oio:hasExactSynonym Mesonephroma, benign DOID:2616 Wolffian duct adenoma Mesonephroma, benign DOID:2616 @@ -18083,8 +17862,8 @@ MONDO:0030515 spermatogenic failure 63 oio:hasExactSynonym SPGF63 DOID:011235 MONDO:0030522 spermatogenic failure 64 oio:hasExactSynonym SPGF64 DOID:0112353 spermatogenic failure 64 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF64 DOID:0112353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030531 spermatogenic failure 65 oio:hasExactSynonym SPGF65 DOID:0112354 spermatogenic failure 65 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF65 DOID:0112354 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030543 combined oxidative phosphorylation deficiency 54 oio:hasExactSynonym COXPD54 DOID:0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD54 DOID:0070427 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae pneumonia due to klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 +MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae DOID:13272 MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae (disorder) pneumonia due to Klebsiella pneumoniae (disorder) Pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 Klebsiella pneumonia pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma DOID:7571 malignant cystic nephroma malignant cystic nephroma DOID:7571 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma DOID:7571 malignant cystic nephroma malignant multilocular cystic nephroma DOID:7571 @@ -18321,7 +18100,6 @@ MONDO:0033671 spermatogenic failure 45 oio:hasExactSynonym SPGF45 DOID:011216 MONDO:0033673 spermatogenic failure 46 oio:hasExactSynonym SPGF46 DOID:0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF46 DOID:0112164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym developmental and epileptic encephalopathy 73 DOID:0112209 developmental and epileptic encephalopathy 73 developmental and epileptic encephalopathy 73 DOID:0112209 MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym DEE73 DOID:0112209 developmental and epileptic encephalopathy 73 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE73 DOID:0112209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0035153 male infertility due to acephalic spermatozoa oio:hasExactSynonym Acephalic spermatozoa syndrome Acephalic spermatozoa syndrome acephalic spermatozoa syndrome DOID:0070184 spermatogenic failure 16 Acephalic spermatozoa syndrome DOID:0070184 MONDO:0036482 retinitis pigmentosa 81 oio:hasExactSynonym retinitis pigmentosa 81 DOID:0080292 retinitis pigmentosa 81 retinitis pigmentosa 81 DOID:0080292 MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly oio:hasExactSynonym short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 @@ -18444,10 +18222,8 @@ MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym ea MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym early infantile epileptic encephalopathy with burst-suppression early infantile epileptic encephalopathy with burst-suppression Early Infantile Epileptic Encephalopathy with Burst-Suppression DOID:0050709 early infantile epileptic encephalopathy early infantile epileptic encephalopathy with burst-suppression DOID:0050709 MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym developmental and epileptic encephalopathy DOID:0112202 developmental and epileptic encephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL developmental and epileptic encephalopathy DOID:0112202 MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym LEOPARD syndrome 1 DOID:0080548 Noonan syndrome with multiple lentigines 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL LEOPARD syndrome 1 DOID:0080548 -MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym multiple lentigines syndrome multiple lentigines syndrome Multiple lentigines syndrome DOID:14291 Noonan syndrome with multiple lentigines multiple lentigines syndrome DOID:14291 MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures oio:hasExactSynonym CONDSIAS DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CONDSIAS DOID:0070352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100096 COVID-19 oio:hasExactSynonym 2019-nCoV infection DOID:0080600 COVID-19 2019-nCoV infection DOID:0080600 -MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym Pena-Shokeir syndrome type 1 DOID:0111375 fetal akinesia deformation sequence syndrome Pena-Shokeir syndrome type 1 DOID:0111375 MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym FADS1 DOID:0111377 fetal akinesia deformation sequence syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS1 DOID:0111377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100102 fetal akinesia deformation sequence 2 oio:hasExactSynonym FADS2 DOID:0111378 fetal akinesia deformation sequence syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS2 DOID:0111378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100103 fetal akinesia deformation sequence 3 oio:hasExactSynonym FADS3 DOID:0111376 fetal akinesia deformation sequence syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FADS3 DOID:0111376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -18547,7 +18323,6 @@ MONDO:0100349 COACH syndrome oio:hasExactSynonym gentile syndrome gentile syndr MONDO:0100349 COACH syndrome oio:hasExactSynonym JS-H DOID:0111589 COACH syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION JS-H DOID:0111589 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal HMN V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 distal HMN V DOID:0111203 MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal hereditary motor neuropathy type V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 distal hereditary motor neuropathy type V DOID:0111203 -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal spinal muscular atrophy type 5 DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 distal spinal muscular atrophy type 5 DOID:0111214 MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym episodic kinesigenic dyskinesia 1 DOID:0090053 episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia 1 DOID:0090053 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym Berdon syndrome DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome Berdon syndrome DOID:0060610 MONDO:0100428 progressive bulbar palsy of childhood oio:hasExactSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease Fazio-Londe disease DOID:0080632 @@ -18589,7 +18364,6 @@ MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExa MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExactSynonym DTDS DOID:0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DTDS DOID:0070487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0700200 atypical dopamine transporter deficiency syndrome oio:hasExactSynonym atypical DTDS DOID:0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION atypical DTDS DOID:0070488 MONDO:0700226 food allergy oio:hasExactSynonym food hypersensitivity DOID:3044 food allergy food hypersensitivity DOID:3044 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym Brachycephalofrontonasal dysplasia DOID:0081073 Teebi hypertelorism syndrome Brachycephalofrontonasal dysplasia DOID:0081073 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine curse DOID:0060731 congenital central hypoventilation syndrome Ondine curse DOID:0060731 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome Ondine syndrome DOID:0060731 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym central congenital hypoventilation syndrome DOID:0060731 congenital central hypoventilation syndrome central congenital hypoventilation syndrome DOID:0060731 @@ -18598,8 +18372,6 @@ MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without H MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym CCHS DOID:0060731 congenital central hypoventilation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCHS DOID:0060731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia DOID:0080523 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis DOID:0060941 interstitial lung disease 1 Idiopathic Pulmonary Fibrosis DOID:0060941 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym hyperkeratosis-contracture syndrome DOID:0060762 restrictive dermopathy hyperkeratosis-contracture syndrome DOID:0060762 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of deglycosylation 1 DOID:0060728 congenital disorder of deglycosylation 1 congenital disorder of deglycosylation 1 DOID:0060728 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of glycosylation type IV congenital disorder of glycosylation type IV congenital disorder of glycosylation type Iv DOID:0060728 congenital disorder of deglycosylation 1 congenital disorder of glycosylation type IV DOID:0060728 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym deficiency of N-glycanase 1 DOID:0060728 congenital disorder of deglycosylation 1 deficiency of N-glycanase 1 DOID:0060728 @@ -18607,13 +18379,11 @@ MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY1-CDDG DOID:0060728 congenital disorder of deglycosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NGLY1-CDDG DOID:0060728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant oio:hasExactSynonym MACTHC1 DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MACTHC1 DOID:0090102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 oio:hasExactSynonym DKCA4 DOID:0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DKCA4 DOID:0070020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym cerebrofaciothoracic dysplasia cerebrofaciothoracic dysplasia Cerebrofaciothoracic dysplasia DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebrofaciothoracic dysplasia DOID:0081072 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 DOID:0070477 diphthamide deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEDSSH1 DOID:0070477 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym childhood ataxia with central nervous system hypomyelination DOID:0060868 leukoencephalopathy with vanishing white matter childhood ataxia with central nervous system hypomyelination DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL leukoencephalopathy with vanishing white matter DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter ovarioleukodystrophy DOID:0060868 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0070396 progressive leukoencephalopathy with ovarian failure ovarioleukodystrophy DOID:0070396 MONDO:0800449 lysosomal acid lipase deficiency oio:hasExactSynonym LAL deficiency DOID:0080217 lysosomal acid lipase deficiency LAL deficiency DOID:0080217 MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 congenital amegakaryocytic thrombocytopenia congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 MONDO:0850302 intracranial meningioma oio:hasExactSynonym brain meningioma DOID:0060106 brain meningioma brain meningioma DOID:0060106 @@ -18666,8 +18436,8 @@ MONDO:0001234 adhesive otitis media oio:hasExactSynonym adhesive middle ear dis MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym polycythemia neonatorum polycythemia neonatorum Polycythemia neonatorum ICD10CM:P61.1 Polycythemia neonatorum polycythemia neonatorum ICD10CM:P61.1 MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K deficiency of vitamin K Deficiency of vitamin K ICD10CM:E56.1 Deficiency of vitamin K deficiency of vitamin K ICD10CM:E56.1 MONDO:0001258 vertebral artery occlusion oio:hasExactSynonym occlusion and stenosis of vertebral artery occlusion and stenosis of vertebral artery Occlusion and stenosis of vertebral artery ICD10CM:I65.0 Occlusion and stenosis of vertebral artery occlusion and stenosis of vertebral artery ICD10CM:I65.0 -MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 +MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession gingival recession ICD10CM:K06.0 MONDO:0001276 expressive language disorder oio:hasExactSynonym expressive language disorder expressive language disorder Expressive language disorder ICD10CM:F80.1 Expressive language disorder expressive language disorder ICD10CM:F80.1 MONDO:0001286 exotropia oio:hasExactSynonym divergent concomitant strabismus divergent concomitant strabismus Divergent concomitant strabismus ICD10CM:H50.1 Exotropia divergent concomitant strabismus ICD10CM:H50.1 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant neoplasm of subglottis malignant neoplasm of subglottis Malignant neoplasm of subglottis ICD10CM:C32.2 Malignant neoplasm of subglottis malignant neoplasm of subglottis ICD10CM:C32.2 @@ -19094,7 +18864,6 @@ MONDO:0016295 neuronal ceroid lipofuscinosis oio:hasExactSynonym neuronal ceroi MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym congenital hydrocephalus congenital hydrocephalus Congenital hydrocephalus ICD10CM:Q03 Congenital hydrocephalus congenital hydrocephalus ICD10CM:Q03 MONDO:0017137 onchocerciasis oio:hasExactSynonym Onchocerca volvulus infection Onchocerca volvulus infection onchocerca volvulus infection ICD10CM:B73 Onchocerciasis Onchocerca volvulus infection ICD10CM:B73 MONDO:0017137 onchocerciasis oio:hasExactSynonym onchocerciasis onchocerciasis Onchocerciasis ICD10CM:B73 Onchocerciasis onchocerciasis ICD10CM:B73 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome ICD10CM:D68.61 Antiphospholipid syndrome Antiphospholipid Syndrome ICD10CM:D68.61 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure ICD10CM:E31.0 Autoimmune polyglandular failure autoimmune polyglandular failure ICD10CM:E31.0 MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis ICD10CM:D58.1 Hereditary elliptocytosis ovalocytosis ICD10CM:D58.1 MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella syndrome congenital rubella syndrome Congenital rubella syndrome ICD10CM:P35.0 Congenital rubella syndrome congenital rubella syndrome ICD10CM:P35.0 @@ -19104,7 +18873,6 @@ MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet r MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher disease ICD10CM:E75.22 Gaucher disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Gaucher disease ICD10CM:E75.22 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym Ritter's disease ICD10CM:L00 Staphylococcal scalded skin syndrome Ritter's disease ICD10CM:L00 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome ICD10CM:L00 Staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome ICD10CM:L00 -MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym pemphigus neonatorum pemphigus neonatorum Pemphigus neonatorum ICD10CM:L01.03 Bullous impetigo pemphigus neonatorum ICD10CM:L01.03 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease ICD10CM:A92.5 Zika virus disease Zika virus disease ICD10CM:A92.5 MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus infection ICD10CM:A92.5 Zika virus disease Zika virus infection ICD10CM:A92.5 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired ichthyosis ICD10CM:L85.0 Acquired ichthyosis acquired ichthyosis ICD10CM:L85.0 @@ -19133,7 +18901,6 @@ MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym heredit MONDO:0019186 Q fever oio:hasExactSynonym infection due to Coxiella burnetii infection due to Coxiella burnetii Infection due to Coxiella burnetii ICD10CM:A78 Q fever infection due to Coxiella burnetii ICD10CM:A78 MONDO:0019186 Q fever oio:hasExactSynonym nine Mile fever nine Mile fever Nine Mile fever ICD10CM:A78 Q fever nine Mile fever ICD10CM:A78 MONDO:0019186 Q fever oio:hasExactSynonym quadrilateral fever quadrilateral fever Quadrilateral fever ICD10CM:A78 Q fever quadrilateral fever ICD10CM:A78 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome ICD10CM:K76.81 Hepatopulmonary syndrome Hepatopulmonary Syndrome ICD10CM:K76.81 MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema hereditary lymphedema Hereditary lymphedema ICD10CM:Q82.0 Hereditary lymphedema hereditary lymphedema ICD10CM:Q82.0 MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome ICD10CM:L10.4 Pemphigus erythematosus Senear-Usher syndrome ICD10CM:L10.4 MONDO:0019345 shigellosis oio:hasExactSynonym shigellosis shigellosis Shigellosis ICD10CM:A03 Shigellosis shigellosis ICD10CM:A03 @@ -19378,7 +19145,6 @@ MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym her MONDO:0003783 lymphopenia oio:hasExactSynonym lymphopenia lymphopenia Lymphopenia icd11.foundation:298296736 Lymphopenia lymphopenia icd11.foundation:298296736 MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis conjunctivitis Conjunctivitis icd11.foundation:831696556 Conjunctivitis conjunctivitis icd11.foundation:831696556 MONDO:0003799 conjunctivitis oio:hasExactSynonym inflammation of conjunctiva icd11.foundation:831696556 Conjunctivitis inflammation of conjunctiva icd11.foundation:831696556 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva myositis ossificans progressiva icd11.foundation:2102976705 MONDO:0004126 thyroiditis oio:hasExactSynonym thyroiditis thyroiditis Thyroiditis icd11.foundation:587793334 Thyroiditis thyroiditis icd11.foundation:587793334 MONDO:0004187 nodular fasciitis oio:hasExactSynonym nodular fasciitis nodular fasciitis Nodular fasciitis icd11.foundation:789101380 Nodular fasciitis nodular fasciitis icd11.foundation:789101380 MONDO:0004187 nodular fasciitis oio:hasExactSynonym pseudosarcomatous fasciitis icd11.foundation:789101380 Nodular fasciitis pseudosarcomatous fasciitis icd11.foundation:789101380 @@ -19437,14 +19203,11 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin lymphoma icd11.fo MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 Peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis icd11.foundation:1871672644 Gastritis gastritis icd11.foundation:1871672644 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic lateral sclerosis icd11.foundation:1982355687 Amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis icd11.foundation:1982355687 -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease icd11.foundation:661720689 Motor neuron disease Lou Gehrig disease icd11.foundation:661720689 MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 Angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 -MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis icd11.foundation:2020673786 Allergic contact dermatitis allergic dermatitis icd11.foundation:2020673786 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis icd11.foundation:215767047 Atopic eczema atopic dermatitis icd11.foundation:215767047 MONDO:0004980 atopic eczema oio:hasExactSynonym atopic eczema atopic eczema Atopic eczema icd11.foundation:215767047 Atopic eczema atopic eczema icd11.foundation:215767047 MONDO:0004981 atrial fibrillation oio:hasExactSynonym atrial fibrillation atrial fibrillation Atrial fibrillation icd11.foundation:171698302 Atrial fibrillation atrial fibrillation icd11.foundation:171698302 MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy icd11.foundation:282225286 Cardiomyopathy cardiomyopathy icd11.foundation:282225286 -MONDO:0005009 congestive heart failure oio:hasExactSynonym weak heart icd11.foundation:1458683894 Heart failure weak heart icd11.foundation:1458683894 MONDO:0005009 congestive heart failure oio:hasExactSynonym congestive heart disease congestive heart disease Congestive heart disease icd11.foundation:2136808878 Congestive heart failure congestive heart disease icd11.foundation:2136808878 MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn disease icd11.foundation:1267652425 Crohn disease Crohn disease icd11.foundation:1267652425 MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn's disease icd11.foundation:1267652425 Crohn disease Crohn's disease icd11.foundation:1267652425 @@ -19571,7 +19334,6 @@ MONDO:0005774 glanders oio:hasExactSynonym farcy pipes icd11.foundation:15631 MONDO:0005774 glanders oio:hasExactSynonym infection due to Pseudomonas mallei infection due to Pseudomonas mallei Infection due to Pseudomonas mallei icd11.foundation:1563156715 Glanders infection due to Pseudomonas mallei icd11.foundation:1563156715 MONDO:0005777 granuloma inguinale oio:hasExactSynonym donovanosis donovanosis Donovanosis icd11.foundation:764124124 Granuloma inguinale donovanosis icd11.foundation:764124124 MONDO:0005777 granuloma inguinale oio:hasExactSynonym granuloma inguinale granuloma inguinale Granuloma inguinale icd11.foundation:764124124 Granuloma inguinale granuloma inguinale icd11.foundation:764124124 -MONDO:0005800 hordeolum oio:hasExactSynonym Stye icd11.foundation:522397394 Hordeolum externum Stye icd11.foundation:522397394 MONDO:0005802 hymenolepiasis oio:hasExactSynonym dwarf tapeworm infection dwarf tapeworm infection Dwarf tapeworm infection icd11.foundation:2028864113 Hymenolepiasis dwarf tapeworm infection icd11.foundation:2028864113 MONDO:0005802 hymenolepiasis oio:hasExactSynonym hymenolepiasis hymenolepiasis Hymenolepiasis icd11.foundation:2028864113 Hymenolepiasis hymenolepiasis icd11.foundation:2028864113 MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Gammaherpesviral mononucleosis icd11.foundation:760139952 Infectious mononucleosis Gammaherpesviral mononucleosis icd11.foundation:760139952 @@ -19638,7 +19400,6 @@ MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynon MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym Rosai-Dorfman disease icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease icd11.foundation:1908538383 MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy Sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 MONDO:0006451 thymic carcinoma oio:hasExactSynonym carcinoma of thymus carcinoma of thymus Carcinoma of thymus icd11.foundation:1351671383 Carcinoma of thymus carcinoma of thymus icd11.foundation:1351671383 -MONDO:0006451 thymic carcinoma oio:hasExactSynonym malignant thymoma malignant thymoma Malignant thymoma icd11.foundation:33869057 Malignant thymoma malignant thymoma icd11.foundation:33869057 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym anaplastic carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland anaplastic carcinoma of thyroid gland icd11.foundation:320540024 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated carcinoma of thyroid gland undifferentiated carcinoma of thyroid gland Undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 MONDO:0006497 cerebral palsy oio:hasExactSynonym infantile cerebral palsy icd11.foundation:76906748 Cerebral palsy infantile cerebral palsy icd11.foundation:76906748 @@ -19657,9 +19418,6 @@ MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym acne inversa acne in MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym hidradenitis suppurativa hidradenitis suppurativa Hidradenitis suppurativa icd11.foundation:1621794154 Hidradenitis suppurativa hidradenitis suppurativa icd11.foundation:1621794154 MONDO:0006563 inverted follicular keratosis oio:hasExactSynonym inverted follicular keratosis inverted follicular keratosis Inverted follicular keratosis icd11.foundation:2109084329 Inverted follicular keratosis inverted follicular keratosis icd11.foundation:2109084329 MONDO:0006572 lichen planus oio:hasExactSynonym lichen ruber planus lichen ruber planus Lichen ruber planus icd11.foundation:1402978031 Lichen planus lichen ruber planus icd11.foundation:1402978031 -MONDO:0006580 miliaria oio:hasExactSynonym heat rash heat rash Heat rash icd11.foundation:1245016385 Miliaria rubra heat rash icd11.foundation:1245016385 -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat prickly heat Prickly heat icd11.foundation:1245016385 Miliaria rubra prickly heat icd11.foundation:1245016385 -MONDO:0006581 miliaria rubra oio:hasExactSynonym sudamina sudamina Sudamina icd11.foundation:796835029 Miliaria crystallina sudamina icd11.foundation:796835029 MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica necrobiosis lipoidica Necrobiosis lipoidica icd11.foundation:655608138 Necrobiosis lipoidica necrobiosis lipoidica icd11.foundation:655608138 MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis circinata icd11.foundation:919892859 Pityriasis rosea Pityriasis circinata icd11.foundation:919892859 MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis rosea icd11.foundation:919892859 Pityriasis rosea Pityriasis rosea icd11.foundation:919892859 @@ -19695,8 +19453,6 @@ MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarco MONDO:0006866 neonatal myasthenia gravis oio:hasExactSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis neonatal myasthenia gravis icd11.foundation:1274860004 MONDO:0006881 orbital cellulitis oio:hasExactSynonym orbital cellulitis orbital cellulitis Orbital cellulitis icd11.foundation:1330743591 Orbital cellulitis orbital cellulitis icd11.foundation:1330743591 MONDO:0006907 pilar sheath acanthoma oio:hasExactSynonym Pilar sheath acanthoma icd11.foundation:281473034 Pilar sheath acanthoma Pilar sheath acanthoma icd11.foundation:281473034 -MONDO:0006941 rat-bite fever oio:hasExactSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis spirillosis icd11.foundation:1104357482 -MONDO:0006941 rat-bite fever oio:hasExactSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis Streptobacillosis icd11.foundation:614000128 MONDO:0006950 retinal vasculitis oio:hasExactSynonym retinal vasculitis retinal vasculitis Retinal vasculitis icd11.foundation:1863208483 Retinal vasculitis retinal vasculitis icd11.foundation:1863208483 MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym Terry syndrome icd11.foundation:947283385 Retinopathy of prematurity Terry syndrome icd11.foundation:947283385 MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym retrolental fibroplasia retrolental fibroplasia Retrolental fibroplasia icd11.foundation:947283385 Retinopathy of prematurity retrolental fibroplasia icd11.foundation:947283385 @@ -19751,7 +19507,6 @@ MONDO:0007113 Angelman syndrome oio:hasExactSynonym Angelman syndrome icd11.f MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym hereditary neurocutaneous angioma hereditary neurocutaneous angioma Hereditary neurocutaneous angioma icd11.foundation:182579434 Hereditary neurocutaneous angioma hereditary neurocutaneous angioma icd11.foundation:182579434 MONDO:0007125 ankyloglossia oio:hasExactSynonym ankyloglossia ankyloglossia Ankyloglossia icd11.foundation:1838543063 Ankyloglossia ankyloglossia icd11.foundation:1838543063 MONDO:0007128 annular erythema oio:hasExactSynonym annular erythema annular erythema Annular erythema icd11.foundation:958930318 Annular erythema annular erythema icd11.foundation:958930318 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym pulmonary venolobar syndrome icd11.foundation:1321054364 Scimitar syndrome pulmonary venolobar syndrome icd11.foundation:1321054364 MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym total anomalous pulmonary venous return icd11.foundation:1532925990 Total anomalous pulmonary venous connection total anomalous pulmonary venous return icd11.foundation:1532925990 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome icd11.foundation:66554749 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Townes-Brocks syndrome icd11.foundation:66554749 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congenita aplasia cutis congenita Aplasia cutis congenita icd11.foundation:350175828 Aplasia cutis congenita aplasia cutis congenita icd11.foundation:350175828 @@ -19794,7 +19549,6 @@ MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome icd11.f MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome icd11.foundation:1249656206 Alagille syndrome Alagille-Watson syndrome icd11.foundation:1249656206 MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia icd11.foundation:1249656206 Alagille syndrome Arteriohepatic dysplasia icd11.foundation:1249656206 MONDO:0007318 Alagille syndrome oio:hasExactSynonym syndromic bile duct paucity syndromic bile duct paucity Syndromic bile duct paucity icd11.foundation:1249656206 Alagille syndrome syndromic bile duct paucity icd11.foundation:1249656206 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym popliteal web syndrome popliteal web syndrome Popliteal web syndrome icd11.foundation:543218573 Popliteal pterygium syndrome popliteal web syndrome icd11.foundation:543218573 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate cleft soft palate Cleft soft palate icd11.foundation:797497023 Cleft soft palate cleft soft palate icd11.foundation:797497023 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum cleft velum Cleft velum icd11.foundation:797497023 Cleft soft palate cleft velum icd11.foundation:797497023 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum palatinum cleft velum palatinum Cleft velum palatinum icd11.foundation:797497023 Cleft soft palate cleft velum palatinum icd11.foundation:797497023 @@ -19814,7 +19568,6 @@ MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym recurr MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome coxoauricular syndrome Coxoauricular syndrome icd11.foundation:649449912 Coxoauricular syndrome coxoauricular syndrome icd11.foundation:649449912 MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome icd11.foundation:1355682887 Craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome icd11.foundation:1355682887 MONDO:0007398 craniorhiny oio:hasExactSynonym craniorhiny craniorhiny Craniorhiny icd11.foundation:853619848 Craniorhiny craniorhiny icd11.foundation:853619848 -MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym 5p partial monosomy syndrome icd11.foundation:1109271336 Deletions of the short arm of chromosome 5 5p partial monosomy syndrome icd11.foundation:1109271336 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym Cri-du-chat syndrome icd11.foundation:620584190 Cri-du-chat syndrome Cri-du-chat syndrome icd11.foundation:620584190 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 Beare-Stevenson cutis gyrata syndrome Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 MONDO:0007414 Gorham-Stout disease oio:hasExactSynonym Gorham-Stout disease icd11.foundation:1318015458 Gorham-Stout disease Gorham-Stout disease icd11.foundation:1318015458 @@ -19826,7 +19579,6 @@ MONDO:0007417 Darier disease oio:hasExactSynonym Keratosis Follicularis Keratos MONDO:0007417 Darier disease oio:hasExactSynonym keratosis follicularis keratosis follicularis Keratosis follicularis icd11.foundation:643994486 Darier disease keratosis follicularis icd11.foundation:643994486 MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus dens evaginatus Dens evaginatus icd11.foundation:474468588 Dens evaginatus dens evaginatus icd11.foundation:474468588 MONDO:0007446 dermatosis papulosa nigra oio:hasExactSynonym dermatosis papulosa nigra dermatosis papulosa nigra Dermatosis papulosa nigra icd11.foundation:168986957 Dermatosis papulosa nigra dermatosis papulosa nigra icd11.foundation:168986957 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym vasopressin deficiency icd11.foundation:1009553897 Central diabetes insipidus vasopressin deficiency icd11.foundation:1009553897 MONDO:0007489 dysplasia epiphysealis hemimelica oio:hasExactSynonym dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica icd11.foundation:1995096940 Dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica icd11.foundation:1995096940 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym Rapp-Hodgkin syndrome icd11.foundation:1455333054 Rapp-Hodgkin syndrome Rapp-Hodgkin syndrome icd11.foundation:1455333054 MONDO:0007515 ectopia pupillae oio:hasExactSynonym ectopia pupillae ectopia pupillae Ectopia pupillae icd11.foundation:70138444 Ectopia pupillae ectopia pupillae icd11.foundation:70138444 @@ -19925,8 +19677,8 @@ MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lup MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic lupus erythematosus icd11.foundation:749596428 Systemic lupus erythematosus systemic lupus erythematosus icd11.foundation:749596428 MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow nail syndrome icd11.foundation:47812081 Yellow nail syndrome yellow nail syndrome icd11.foundation:47812081 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) Myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym Marcus-Gunn syndrome icd11.foundation:590216180 Marcus-Gunn syndrome Marcus-Gunn syndrome icd11.foundation:590216180 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome icd11.foundation:236564145 Marfan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marfan syndrome icd11.foundation:236564145 MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome icd11.foundation:1401051186 Marshall syndrome Marshall syndrome icd11.foundation:1401051186 @@ -19945,8 +19697,6 @@ MONDO:0008015 motion sickness oio:hasExactSynonym motion sickness motion sickne MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome Muir-Torre syndrome icd11.foundation:229304403 MONDO:0008039 tropical spastic paraparesis oio:hasExactSynonym tropical spastic paraplegia icd11.foundation:1043229589 Human T-cell lymphotropic virus-associated myelopathy tropical spastic paraplegia icd11.foundation:1043229589 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis icd11.foundation:1428089375 Juvenile dermatomyositis juvenile dermatomyositis icd11.foundation:1428089375 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy icd11.foundation:192087511 Myotonic dystrophy Myotonic Dystrophy icd11.foundation:192087511 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica icd11.foundation:192087511 Myotonic dystrophy dystrophia myotonica icd11.foundation:192087511 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert disease icd11.foundation:557405480 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert myotonic dystrophy syndrome icd11.foundation:557405480 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 Steinert syndrome icd11.foundation:557405480 @@ -19989,7 +19739,6 @@ MONDO:0008221 prolidase deficiency oio:hasExactSynonym hyperimidodipeptiduria h MONDO:0008221 prolidase deficiency oio:hasExactSynonym prolidase deficiency prolidase deficiency Prolidase deficiency icd11.foundation:1416203271 Prolidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL prolidase deficiency icd11.foundation:1416203271 MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym adynamia episodica hereditaria icd11.foundation:1308452752 Hyperkalaemic periodic paralysis adynamia episodica hereditaria icd11.foundation:1308452752 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A icd11.foundation:1689268035 Multiple endocrine neoplasia type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A icd11.foundation:1689268035 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym Sipple syndrome icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 Sipple syndrome icd11.foundation:1837913809 MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism icd11.foundation:2089421143 Piebaldism piebaldism icd11.foundation:2089421143 MONDO:0008260 Kindler syndrome oio:hasExactSynonym Kindler syndrome icd11.foundation:726317303 Kindler syndrome Kindler syndrome icd11.foundation:726317303 MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly icd11.foundation:1364451323 Poland syndrome Poland anomaly icd11.foundation:1364451323 @@ -20136,7 +19885,6 @@ MONDO:0008797 anodontia oio:hasExactSynonym complete absence of teeth icd11.f MONDO:0008797 anodontia oio:hasExactSynonym developmental absence of tooth icd11.foundation:413433873 Anodontia developmental absence of tooth icd11.foundation:413433873 MONDO:0008797 anodontia oio:hasExactSynonym total anodontia of permanent and deciduous teeth icd11.foundation:413433873 Anodontia total anodontia of permanent and deciduous teeth icd11.foundation:413433873 MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym familial apolipoprotein C-II deficiency familial apolipoprotein C-II deficiency Familial apolipoprotein C-II deficiency icd11.foundation:877401371 Familial apolipoprotein C-II deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial apolipoprotein C-II deficiency icd11.foundation:877401371 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym Garcia-Lurie syndrome icd11.foundation:1740361952 Aprosencephaly Garcia-Lurie syndrome icd11.foundation:1740361952 MONDO:0008814 hyperargininemia oio:hasExactSynonym arginase deficiency arginase deficiency Arginase deficiency icd11.foundation:1619102598 Argininaemia arginase deficiency icd11.foundation:1619102598 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinase deficiency argininosuccinase deficiency Argininosuccinase deficiency icd11.foundation:439383288 Argininosuccinic aciduria argininosuccinase deficiency icd11.foundation:439383288 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinic aciduria argininosuccinic aciduria Argininosuccinic aciduria icd11.foundation:439383288 Argininosuccinic aciduria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL argininosuccinic aciduria icd11.foundation:439383288 @@ -20381,7 +20129,6 @@ MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysacchar MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym Sanfilippo syndrome type D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D Sanfilippo syndrome type D icd11.foundation:1780990193 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym mucopolysaccharidosis type 3D mucopolysaccharidosis type 3D Mucopolysaccharidosis type 3D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 3D icd11.foundation:1780990193 MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis type 4A mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4A icd11.foundation:1919173641 Mucopolysaccharidosis type 4A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL mucopolysaccharidosis type 4A icd11.foundation:1919173641 -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency icd11.foundation:1479415032 Mucopolysaccharidosis type 4B Beta-D-galactosidase deficiency icd11.foundation:1479415032 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym Maroteaux-Lamy syndrome icd11.foundation:1288379621 Mucopolysaccharidosis type 6 Maroteaux-Lamy syndrome icd11.foundation:1288379621 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 Mucopolysaccharidosis type 6 N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 @@ -20446,8 +20193,8 @@ MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Immunosuppressive measles encephalitis Immunosuppressive measles encephalitis immunosuppressive measles encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Immunosuppressive measles encephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis subacute sclerosing panencephalitis Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis subacute sclerosing panencephalitis icd11.foundation:1098683540 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 +MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma choroid plexus papilloma icd11.foundation:1696749652 MONDO:0009841 PEHO syndrome oio:hasExactSynonym peho syndrome peho syndrome PEHO syndrome icd11.foundation:976613527 PEHO syndrome peho syndrome icd11.foundation:976613527 MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym Imerslund-Grasbeck syndrome icd11.foundation:375969525 Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome icd11.foundation:375969525 MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym persistent Mullerian duct syndrome persistent Mullerian duct syndrome Persistent Mullerian duct syndrome icd11.foundation:697796373 Persistent Mullerian duct syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL persistent Mullerian duct syndrome icd11.foundation:697796373 @@ -20564,7 +20311,6 @@ MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym X-linked hyperuricemia X MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym deficiency of IMP pyrophosphorylase deficiency of IMP pyrophosphorylase deficiency of imp pyrophosphorylase icd11.foundation:1886495906 Lesch-Nyhan syndrome deficiency of IMP pyrophosphorylase icd11.foundation:1886495906 MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym Lesch-Nyhan syndrome icd11.foundation:1886495906 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Lesch-Nyhan syndrome icd11.foundation:1886495906 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy icd11.foundation:1185572073 Congenital myopathies benign congenital myopathy icd11.foundation:1185572073 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy icd11.foundation:690532643 Becker muscular dystrophy Becker muscular dystrophy icd11.foundation:690532643 MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Allan-Herndon-Dudley syndrome icd11.foundation:56813604 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis oio:hasExactSynonym nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 Nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 @@ -20826,7 +20572,6 @@ MONDO:0012552 multiple endocrine neoplasia type 4 oio:hasExactSynonym multiple MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency oio:hasExactSynonym primary immunodeficiency syndrome with short stature primary immunodeficiency syndrome with short stature Primary immunodeficiency syndrome with short stature icd11.foundation:813140844 Primary immunodeficiency syndrome due to p14 deficiency primary immunodeficiency syndrome with short stature icd11.foundation:813140844 MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym Potocki-Lupski syndrome icd11.foundation:1720095972 Potocki-Lupski syndrome Potocki-Lupski syndrome icd11.foundation:1720095972 MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym trisomy 17p11.2 trisomy 17p11.2 Trisomy 17p11.2 icd11.foundation:1720095972 Potocki-Lupski syndrome trisomy 17p11.2 icd11.foundation:1720095972 -MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis Pulmonary alveolar proteinosis icd11.foundation:1869739196 Pulmonary alveolar proteinosis Pulmonary Alveolar Proteinosis icd11.foundation:1869739196 MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym idiopathic pulmonary alveolar proteinosis idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 Autoimmune pulmonary alveolar proteinosis idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 MONDO:0012589 Pitt-Hopkins syndrome oio:hasExactSynonym Pitt-Hopkins syndrome icd11.foundation:2040786134 Pitt-Hopkins syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Pitt-Hopkins syndrome icd11.foundation:2040786134 MONDO:0012593 brain-lung-thyroid syndrome oio:hasExactSynonym brain-lung-thyroid syndrome brain-lung-thyroid syndrome Brain-lung-thyroid syndrome icd11.foundation:809856670 Brain-lung-thyroid syndrome brain-lung-thyroid syndrome icd11.foundation:809856670 @@ -20941,7 +20686,6 @@ MONDO:0015339 adrenomyeloneuropathy oio:hasExactSynonym adrenomyeloneuropathy a MONDO:0015340 drug rash with eosinophilia and systemic symptoms oio:hasExactSynonym DRESS syndrome icd11.foundation:516577496 DRESS syndrome DRESS syndrome icd11.foundation:516577496 MONDO:0015346 epilepsy with eyelid myoclonia oio:hasExactSynonym Jeavons syndrome icd11.foundation:262814036 Jeavons syndrome Jeavons syndrome icd11.foundation:262814036 MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis multicentric reticulohistiocytosis Multicentric reticulohistiocytosis icd11.foundation:977116795 Multicentric reticulohistiocytosis multicentric reticulohistiocytosis icd11.foundation:977116795 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain congenital insensitivity to pain Congenital insensitivity to pain icd11.foundation:1411011731 Hereditary sensory and autonomic neuropathy type V congenital insensitivity to pain icd11.foundation:1411011731 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome Oral-Facial-Digital Syndrome icd11.foundation:1405407847 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome oral-facial-digital syndrome icd11.foundation:1405407847 MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst icd11.foundation:1956658224 First branchial cleft anomaly first branchial cleft cyst icd11.foundation:1956658224 @@ -20952,7 +20696,6 @@ MONDO:0015386 epignathus oio:hasExactSynonym oropharyngeal teratoma oropharynge MONDO:0015388 polyrrhinia oio:hasExactSynonym Double nose icd11.foundation:142812177 Polyrrhinia Double nose icd11.foundation:142812177 MONDO:0015390 proboscis lateralis oio:hasExactSynonym congenital tubular nose congenital tubular nose Congenital tubular nose icd11.foundation:646148612 Proboscis lateralis congenital tubular nose icd11.foundation:646148612 MONDO:0015392 nasal glial heterotopia oio:hasExactSynonym nasal glioma nasal glioma Nasal glioma icd11.foundation:1449384774 Nasal glial heterotopia nasal glioma icd11.foundation:1449384774 -MONDO:0015414 paramedian nasal cleft oio:hasExactSynonym cleft nose icd11.foundation:1824850646 Bifid nose cleft nose icd11.foundation:1824850646 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome icd11.foundation:734451870 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome icd11.foundation:734451870 MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome icd11.foundation:2098089327 Cogan syndrome Cogan syndrome icd11.foundation:2098089327 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency icd11.foundation:1133091451 Multiple carboxylase deficiency multiple carboxylase deficiency icd11.foundation:1133091451 @@ -21074,9 +20817,8 @@ MONDO:0016608 megalencephaly oio:hasExactSynonym macroencephaly macroencephaly MONDO:0016608 megalencephaly oio:hasExactSynonym megalencephaly megalencephaly Megalencephaly icd11.foundation:368780653 Megalencephaly megalencephaly icd11.foundation:368780653 MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis cerebri icd11.foundation:373131154 Gliomatosis cerebri gliomatosis cerebri icd11.foundation:373131154 MONDO:0016712 classic medulloblastoma oio:hasExactSynonym classic medulloblastoma classic medulloblastoma Classic medulloblastoma icd11.foundation:1548011794 Classic medulloblastoma classic medulloblastoma icd11.foundation:1548011794 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma icd11.foundation:1959912502 Choroid plexus tumours anaplastic choroid plexus papilloma icd11.foundation:1959912502 +MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma choroid plexus carcinoma icd11.foundation:1128449352 MONDO:0016723 pineocytoma oio:hasExactSynonym pineocytoma pineocytoma Pineocytoma icd11.foundation:2055142333 Pineocytoma pineocytoma icd11.foundation:2055142333 MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma icd11.foundation:1287417975 Ganglioglioma ganglioglioma icd11.foundation:1287417975 MONDO:0016755 neurofibroma oio:hasExactSynonym neurofibroma neurofibroma Neurofibroma icd11.foundation:221014277 Neurofibroma neurofibroma icd11.foundation:221014277 @@ -21104,12 +20846,10 @@ MONDO:0017201 Spasmus nutans oio:hasExactSynonym Spasmus nutans icd11.foundat MONDO:0017219 microform holoprosencephaly oio:hasExactSynonym holoprosencephaly-like holoprosencephaly-like Holoprosencephaly-like icd11.foundation:44293173 Microform holoprosencephaly holoprosencephaly-like icd11.foundation:44293173 MONDO:0017255 panuveitis oio:hasExactSynonym diffuse uveitis icd11.foundation:1125547814 Panuveitis diffuse uveitis icd11.foundation:1125547814 MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis icd11.foundation:1125547814 Panuveitis panuveitis icd11.foundation:1125547814 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome icd11.foundation:1173370808 Antiphospholipid syndrome Antiphospholipid Syndrome icd11.foundation:1173370808 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyendocrinopathy icd11.foundation:548357900 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyglandular failure icd11.foundation:548357900 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome icd11.foundation:548357900 Autoimmune polyendocrinopathy autoimmune polyglandular syndrome icd11.foundation:548357900 MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis icd11.foundation:1473144548 Infestation by Demodex Demodicosis icd11.foundation:1473144548 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis Echinococcus multilocularis infection icd11.foundation:1456802165 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal transposition icd11.foundation:1417779551 Penoscrotal transposition penoscrotal transposition icd11.foundation:1417779551 MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids oio:hasExactSynonym chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 MONDO:0017304 ocular albinism oio:hasExactSynonym ocular albinism ocular albinism Ocular albinism icd11.foundation:1147926040 Ocular albinism ocular albinism icd11.foundation:1147926040 @@ -21146,11 +20886,9 @@ MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional e MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogen storage disease type 2, infantile onset glycogen storage disease type 2, infantile onset Glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogenosis type 2, infantile onset glycogenosis type 2, infantile onset Glycogenosis type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset glycogenosis type 2, infantile onset icd11.foundation:1496243702 MONDO:0017775 melioidosis oio:hasExactSynonym pseudoglanders icd11.foundation:2129350166 Melioidosis pseudoglanders icd11.foundation:2129350166 -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency oio:hasExactSynonym Schindler disease icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 Schindler disease icd11.foundation:1058486825 MONDO:0017799 Meigs syndrome oio:hasExactSynonym Meigs' syndrome icd11.foundation:1050919535 Meigs' syndrome Meigs' syndrome icd11.foundation:1050919535 MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital sequestration of lung congenital sequestration of lung Congenital sequestration of lung icd11.foundation:1833083626 Congenital sequestration of lung congenital sequestration of lung icd11.foundation:1833083626 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome icd11.foundation:1358020385 Szary syndrome Sezary syndrome icd11.foundation:1358020385 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome icd11.foundation:421687193 Sheehan syndrome Sheehan Syndrome icd11.foundation:421687193 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia variabilis icd11.foundation:551200965 Erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis icd11.foundation:551200965 MONDO:0017941 chikungunya oio:hasExactSynonym Chikungunya fever icd11.foundation:900389391 Chikungunya virus disease Chikungunya fever icd11.foundation:900389391 MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome icd11.foundation:1072688797 Autoimmune lymphoproliferative syndrome Canale-Smith syndrome icd11.foundation:1072688797 @@ -21207,7 +20945,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-positi MONDO:0018227 hypocomplementemic urticarial vasculitis oio:hasExactSynonym anti-C1q vasculitis anti-C1q vasculitis Anti-C1q vasculitis icd11.foundation:629572966 Hypocomplementaemic urticarial vasculitis anti-C1q vasculitis icd11.foundation:629572966 MONDO:0018242 autoimmune hypoparathyroidism oio:hasExactSynonym autoimmune hypoparathyroidism autoimmune hypoparathyroidism Autoimmune hypoparathyroidism icd11.foundation:1790437089 Autoimmune hypoparathyroidism autoimmune hypoparathyroidism icd11.foundation:1790437089 MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym chronic septic granulomatosis chronic septic granulomatosis Chronic septic granulomatosis icd11.foundation:1329764681 Chronic granulomatous disease chronic septic granulomatosis icd11.foundation:1329764681 -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym congenital dysphagocytosis congenital dysphagocytosis Congenital dysphagocytosis icd11.foundation:808756909 Functional neutrophil defects congenital dysphagocytosis icd11.foundation:808756909 MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation icd11.foundation:440483530 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation icd11.foundation:440483530 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease icd11.foundation:1772690306 Hirschsprung disease Hirschsprung disease icd11.foundation:1772690306 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic megacolon icd11.foundation:1772690306 Hirschsprung disease aganglionic megacolon icd11.foundation:1772690306 @@ -21272,8 +21009,6 @@ MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym hepatocellular adenoma MONDO:0018903 sarcocystosis oio:hasExactSynonym sarcosporidiosis sarcosporidiosis Sarcosporidiosis icd11.foundation:261748740 Sarcocystosis sarcosporidiosis icd11.foundation:261748740 MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome icd11.foundation:1654321425 Cushing syndrome Cushing syndrome icd11.foundation:1654321425 MONDO:0018912 Cushing syndrome oio:hasExactSynonym hyperadrenocorticism hyperadrenocorticism Hyperadrenocorticism icd11.foundation:1654321425 Cushing syndrome hyperadrenocorticism icd11.foundation:1654321425 -MONDO:0018912 Cushing syndrome oio:hasExactSynonym pituitary basophilism icd11.foundation:380861892 Pituitary-dependent Cushing disease pituitary basophilism icd11.foundation:380861892 -MONDO:0018912 Cushing syndrome oio:hasExactSynonym suprarenogenic syndrome icd11.foundation:380861892 Pituitary-dependent Cushing disease suprarenogenic syndrome icd11.foundation:380861892 MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym postpartum cardiomyopathy icd11.foundation:1218807936 Cardiomyopathy in the puerperium postpartum cardiomyopathy icd11.foundation:1218807936 MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome icd11.foundation:695796893 Meckel-Gruber syndrome Meckel-Gruber syndrome icd11.foundation:695796893 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym Sedlackova syndrome icd11.foundation:1868156761 CATCH 22 phenotype Sedlackova syndrome icd11.foundation:1868156761 @@ -21284,7 +21019,6 @@ MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym Hemi MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym hemiplegic migraine hemiplegic migraine Hemiplegic migraine icd11.foundation:1957063016 Hemiplegic migraine hemiplegic migraine icd11.foundation:1957063016 MONDO:0018936 osteoblastoma oio:hasExactSynonym osteoblastoma osteoblastoma Osteoblastoma icd11.foundation:1948326341 Osteoblastoma osteoblastoma icd11.foundation:1948326341 MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym Sanfilippo syndrome icd11.foundation:1477250013 Mucopolysaccharidosis type 3 Sanfilippo syndrome icd11.foundation:1477250013 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A heparan sulfate sulfatase deficiency icd11.foundation:182200345 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym Morquio syndrome icd11.foundation:2078241550 Mucopolysaccharidosis type 4 Morquio syndrome icd11.foundation:2078241550 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym mucopolysaccharidosis type 4 mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4 icd11.foundation:2078241550 Mucopolysaccharidosis type 4 mucopolysaccharidosis type 4 icd11.foundation:2078241550 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital myasthenic syndromes icd11.foundation:1515367530 Congenital myasthenic syndromes Congenital Myasthenic Syndromes icd11.foundation:1515367530 @@ -21316,8 +21050,6 @@ MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome icd11.found MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis icd11.foundation:650490256 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis icd11.foundation:650490256 MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 icd11.foundation:1837913809 MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis icd11.foundation:158151813 Nephronophthisis nephronophthisis icd11.foundation:158151813 -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease medullary cystic disease icd11.foundation:216863438 -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic kidney icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease medullary cystic kidney icd11.foundation:216863438 MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 Benign recurrent intrahepatic cholestasis Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome icd11.foundation:2132713612 Carpenter syndrome Carpenter syndrome icd11.foundation:2132713612 MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos icd11.foundation:1168696429 Omphalocele exomphalos icd11.foundation:1168696429 @@ -21358,7 +21090,6 @@ MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oi MONDO:0019147 myiasis oio:hasExactSynonym infestation by fly larvae infestation by fly larvae Infestation by fly larvae icd11.foundation:1367149207 Myiasis infestation by fly larvae icd11.foundation:1367149207 MONDO:0019147 myiasis oio:hasExactSynonym infestation by maggots icd11.foundation:1367149207 Myiasis infestation by maggots icd11.foundation:1367149207 MONDO:0019147 myiasis oio:hasExactSynonym maggot infestation maggot infestation Maggot infestation icd11.foundation:1367149207 Myiasis maggot infestation icd11.foundation:1367149207 -MONDO:0019148 Wolman disease oio:hasExactSynonym acid esterase deficiency acid esterase deficiency Acid esterase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency acid esterase deficiency icd11.foundation:381622932 MONDO:0019152 Oguchi disease oio:hasExactSynonym Oguchi disease icd11.foundation:1759055065 Oguchi disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Oguchi disease icd11.foundation:1759055065 MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym primary acquired sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 primary acquired sideroblastic anaemia icd11.foundation:1793160341 @@ -21396,13 +21127,10 @@ MONDO:0019260 adult neuronal ceroid lipofuscinosis oio:hasExactSynonym adult ne MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Hagberg-Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Hagberg-Santavuori disease icd11.foundation:797123687 MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Santavuori disease icd11.foundation:797123687 MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori-Haltia disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis Santavuori-Haltia disease icd11.foundation:797123687 -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym batten disease batten disease Batten disease icd11.foundation:1568332253 Neuronal ceroid lipofuscinosis batten disease icd11.foundation:1568332253 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym Spielmeyer-Vogt disease icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis Spielmeyer-Vogt disease icd11.foundation:1716107919 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym juvenile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 icd11.foundation:1639349183 Alpha-N-acetylgalactosaminidase deficiency type 3 Schindler disease type 3 icd11.foundation:1639349183 MONDO:0019280 hypertrichosis oio:hasExactSynonym hypertrichosis hypertrichosis Hypertrichosis icd11.foundation:2042627850 Hypertrichosis hypertrichosis icd11.foundation:2042627850 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym HPS HPS hps icd11.foundation:582624609 Hantavirus pulmonary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPS icd11.foundation:582624609 -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome icd11.foundation:866605228 Hepatopulmonary syndrome Hepatopulmonary Syndrome icd11.foundation:866605228 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis icd11.foundation:193128939 Diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis icd11.foundation:193128939 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa urticaria pigmentosa icd11.foundation:245322245 MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome icd11.foundation:399813106 Pemphigus erythematosus Senear-Usher syndrome icd11.foundation:399813106 @@ -21453,12 +21181,10 @@ MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym congenita MONDO:0019404 perineurioma oio:hasExactSynonym perineurioma perineurioma Perineurioma icd11.foundation:456459236 Perineurioma perineurioma icd11.foundation:456459236 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 Microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis icd11.foundation:183642011 Idiopathic juvenile osteoporosis idiopathic juvenile osteoporosis icd11.foundation:183642011 -MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic osteoporosis icd11.foundation:2113001430 Osteoporosis idiopathic osteoporosis icd11.foundation:2113001430 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym Still disease icd11.foundation:504387587 Juvenile systemic arthritis Still disease icd11.foundation:504387587 MONDO:0019436 psoriasis-related juvenile idiopathic arthritis oio:hasExactSynonym juvenile psoriatic arthritis juvenile psoriatic arthritis Juvenile psoriatic arthritis icd11.foundation:1473955563 Juvenile psoriatic arthritis juvenile psoriatic arthritis icd11.foundation:1473955563 MONDO:0019438 AL amyloidosis oio:hasExactSynonym primary amyloidosis primary amyloidosis Primary amyloidosis icd11.foundation:1061366491 AL amyloidosis primary amyloidosis icd11.foundation:1061366491 MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary amyloidosis icd11.foundation:570181034 AA amyloidosis secondary amyloidosis icd11.foundation:570181034 -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym dialysis-related amyloidosis dialysis-related amyloidosis Dialysis-related amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis dialysis-related amyloidosis icd11.foundation:448754119 MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis icd11.foundation:284613639 Trichinosis trichinosis icd11.foundation:284613639 MONDO:0019446 localized lichen myxedematosus oio:hasExactSynonym papular mucinosis papular mucinosis Papular mucinosis icd11.foundation:15830032 Lichen myxoedematosus papular mucinosis icd11.foundation:15830032 MONDO:0019448 benign adult familial myoclonic epilepsy oio:hasExactSynonym benign adult familial myoclonus epilepsy benign adult familial myoclonus epilepsy Benign adult familial myoclonus epilepsy icd11.foundation:1036649329 Benign adult familial myoclonus epilepsy benign adult familial myoclonus epilepsy icd11.foundation:1036649329 @@ -21477,14 +21203,12 @@ MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym intest MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 Subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma icd11.foundation:911785965 Histiocytic sarcoma histiocytic sarcoma icd11.foundation:911785965 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma icd11.foundation:588958190 Langerhans cell sarcoma Langerhans cell sarcoma icd11.foundation:588958190 -MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, X Karyotype 45, X icd11.foundation:95979116 Karyotype 45, X karyotype 45, X icd11.foundation:95979116 MONDO:0019517 Waardenburg syndrome type 2 oio:hasExactSynonym Waardenburg syndrome type 2 icd11.foundation:746815303 Waardenburg syndrome type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome type 2 icd11.foundation:746815303 MONDO:0019518 Waardenburg-Shah syndrome oio:hasExactSynonym Waardenburg-Shah syndrome icd11.foundation:1420151003 Waardenburg-Shah syndrome Waardenburg-Shah syndrome icd11.foundation:1420151003 MONDO:0019524 Bartter syndrome type 4 oio:hasExactSynonym Bartter syndrome type 4 icd11.foundation:959024909 Bartter syndrome type 4 Bartter syndrome type 4 icd11.foundation:959024909 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome icd11.foundation:715111132 Paroxysmal cold haemoglobinuria Donath-Landsteiner syndrome icd11.foundation:715111132 MONDO:0019538 Gaisbock syndrome oio:hasExactSynonym stress erythrocytosis icd11.foundation:533704171 Gaisbock syndrome stress erythrocytosis icd11.foundation:533704171 MONDO:0019547 Wells syndrome oio:hasExactSynonym eosinophilic cellulitis eosinophilic cellulitis Eosinophilic cellulitis icd11.foundation:1860796142 Eosinophilic cellulitis eosinophilic cellulitis icd11.foundation:1860796142 -MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym peripheral neuropathy and optic atrophy peripheral neuropathy and optic atrophy Peripheral neuropathy and optic atrophy icd11.foundation:1149710475 Autosomal dominant optic atrophy plus syndrome peripheral neuropathy and optic atrophy icd11.foundation:1149710475 MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 Hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 MONDO:0019562 localized scleroderma oio:hasExactSynonym circumscribed scleroderma circumscribed scleroderma Circumscribed scleroderma icd11.foundation:1430740369 Plaque morphoea circumscribed scleroderma icd11.foundation:1430740369 MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome type 1 icd11.foundation:1271368066 Cockayne syndrome type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cockayne syndrome type 1 icd11.foundation:1271368066 @@ -21493,7 +21217,6 @@ MONDO:0019600 xeroderma pigmentosum oio:hasExactSynonym atrophoderma pigmentosu MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym Zollinger-Ellison syndrome icd11.foundation:375645550 Zollinger-Ellison syndrome Zollinger-Ellison syndrome icd11.foundation:375645550 MONDO:0019611 TSH-secreting pituitary adenoma oio:hasExactSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma icd11.foundation:125504731 TSH-secreting pituitary adenoma thyrotroph adenoma icd11.foundation:125504731 MONDO:0019613 non-functioning pituitary adenoma oio:hasExactSynonym non-functioning pituitary adenoma non-functioning pituitary adenoma Non-functioning pituitary adenoma icd11.foundation:1197752358 Non-secreting pituitary adenoma non-functioning pituitary adenoma icd11.foundation:1197752358 -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym postpartum hypopituitarism icd11.foundation:768216194 Hypopituitarism postpartum hypopituitarism icd11.foundation:768216194 MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioedema hereditary angioedema Hereditary angioedema icd11.foundation:795969334 Hereditary angioedema hereditary angioedema icd11.foundation:795969334 MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioneurotic oedema hereditary angioneurotic oedema Hereditary angioneurotic oedema icd11.foundation:795969334 Hereditary angioedema http://purl.obolibrary.org/obo/OMO_0003005 hereditary angioneurotic oedema icd11.foundation:795969334 MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioedema acquired angioedema Acquired angioedema icd11.foundation:1078767412 Acquired angioedema acquired angioedema icd11.foundation:1078767412 @@ -21539,7 +21262,6 @@ MONDO:0019975 pellagra oio:hasExactSynonym pellagra pellagra Pellagra icd11.fou MONDO:0019993 congenital renal artery stenosis oio:hasExactSynonym congenital renovascular hypoplasia congenital renovascular hypoplasia Congenital renovascular hypoplasia icd11.foundation:856359002 Congenital renal artery stenosis congenital renovascular hypoplasia icd11.foundation:856359002 MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy icd11.foundation:173613583 Progressive myoclonic epilepsy progressive myoclonic epilepsy icd11.foundation:173613583 MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystrophy genetic lipodystrophy Genetic lipodystrophy icd11.foundation:1166232738 Genetic lipodystrophy genetic lipodystrophy icd11.foundation:1166232738 -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemolytic anaemia icd11.foundation:880772122 Autoimmune haemolytic anaemia, warm type http://purl.obolibrary.org/obo/OMO_0003005 autoimmune haemolytic anaemia icd11.foundation:880772122 MONDO:0020110 pulmonary agenesis oio:hasExactSynonym congenital absence of lung icd11.foundation:134836096 Agenesis of lung congenital absence of lung icd11.foundation:134836096 MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease icd11.foundation:661720689 Motor neuron disease anterior horn cell disease icd11.foundation:661720689 MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease icd11.foundation:661720689 Motor neuron disease motor neuron disease icd11.foundation:661720689 @@ -21575,7 +21297,6 @@ MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroe MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma icd11.foundation:1377407737 Eosinophilic granuloma eosinophilic granuloma icd11.foundation:1377407737 MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus transient neonatal diabetes mellitus Transient neonatal diabetes mellitus icd11.foundation:1596856936 Transient neonatal diabetes mellitus transient neonatal diabetes mellitus icd11.foundation:1596856936 MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic Cushing syndrome ectopic Cushing syndrome Ectopic Cushing syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome ectopic Cushing syndrome icd11.foundation:1646144829 -MONDO:0020528 ACTH-dependent Cushing syndrome oio:hasExactSynonym pituitary-dependent Cushing disease pituitary-dependent Cushing disease Pituitary-dependent Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease pituitary-dependent Cushing disease icd11.foundation:380861892 MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym long chain acyl-CoA dehydrogenase deficiency long chain acyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 Long chain acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym sodoku sodoku Sodoku icd11.foundation:1104357482 Spirillosis sodoku icd11.foundation:1104357482 MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym Haverhill fever icd11.foundation:614000128 Streptobacillosis Haverhill fever icd11.foundation:614000128 @@ -21866,8 +21587,8 @@ MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym WWS NCIT:C99109 Walker-Warburg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WWS NCIT:C99109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym nuclear localization signal nuclear localization signal Nuclear Localization Signal NCIT:C14089 Nuclear Localization Signal nuclear localization signal NCIT:C14089 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VFib NCIT:C50799 Ventricular Fibrillation VFib NCIT:C50799 -MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation Ventricular Fibrillation NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 +MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation ventricular fibrillation NCIT:C50799 MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VF NCIT:C50799 Ventricular Fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VF NCIT:C50799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia Autosomal Recessive Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia autosomal recessive infantile hypercalcemia NCIT:C129734 MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym idiopathic infantile hypercalcemia idiopathic infantile hypercalcemia Idiopathic Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia http://purl.obolibrary.org/obo/mondo#DEPRECATED idiopathic infantile hypercalcemia NCIT:C129734 @@ -22016,8 +21737,8 @@ MONDO:0000473 arterial disorder oio:hasExactSynonym arterial disorder arterial MONDO:0000473 arterial disorder oio:hasExactSynonym arteriopathy arteriopathy Arteriopathy NCIT:C35317 Arterial Disorder arteriopathy NCIT:C35317 MONDO:0000490 glomerulosclerosis oio:hasExactSynonym glomerular sclerosis glomerular sclerosis Glomerular Sclerosis NCIT:C120888 Glomerulosclerosis glomerular sclerosis NCIT:C120888 MONDO:0000495 oppositional defiant disorder oio:hasExactSynonym oppositional defiant disorder oppositional defiant disorder Oppositional Defiant Disorder NCIT:C92565 Oppositional Defiant Disorder oppositional defiant disorder NCIT:C92565 -MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra pyometra NCIT:C121207 MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra Pyometra NCIT:C121207 Pyometra pyometra NCIT:C121207 +MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra pyometra NCIT:C121207 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of the tongue scc of the tongue SCC of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma scc of the tongue NCIT:C4648 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of tongue scc of tongue SCC of Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma scc of tongue NCIT:C4648 MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tongue squamous cell carcinoma of the tongue Squamous Cell Carcinoma of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma squamous cell carcinoma of the tongue NCIT:C4648 @@ -22056,8 +21777,8 @@ MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic Paraganglionic neoplasm extra-adrenal sympathetic Paraganglionic neoplasm Extra-Adrenal Sympathetic Paraganglionic Neoplasm NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extra-adrenal sympathetic Paraganglionic neoplasm NCIT:C48576 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic paraganglioma extra-adrenal sympathetic paraganglioma Extra-Adrenal Sympathetic Paraganglioma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extra-adrenal sympathetic paraganglioma NCIT:C48576 MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extraadrenal pheochromocytoma extraadrenal pheochromocytoma Extraadrenal Pheochromocytoma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma extraadrenal pheochromocytoma NCIT:C48576 -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular Adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 +MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma lobular adenocarcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular breast carcinoma lobular breast carcinoma Lobular Breast Carcinoma NCIT:C3771 Breast Lobular Carcinoma lobular breast carcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma lobular carcinoma NCIT:C3771 MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular Carcinoma of Breast NCIT:C3771 Breast Lobular Carcinoma lobular carcinoma of breast NCIT:C3771 @@ -22105,8 +21826,6 @@ MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm benign osseous tumor NCIT:C4880 MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of bone benign tumor of bone Benign Tumor of Bone NCIT:C4880 Benign Bone Neoplasm benign tumor of bone NCIT:C4880 MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of the bone benign tumor of the bone Benign Tumor of the Bone NCIT:C4880 Benign Bone Neoplasm benign tumor of the bone NCIT:C4880 -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm benign osseous neoplasm NCIT:C6602 -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm benign osseous tumor NCIT:C6602 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous neoplasms, benign Uterous neoplasms, benign Uterous Neoplasms, Benign NCIT:C3609 Benign Uterine Neoplasm Uterous neoplasms, benign NCIT:C3609 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous tumors, benign Uterous tumors, benign Uterous Tumors, Benign NCIT:C3609 Benign Uterine Neoplasm Uterous tumors, benign NCIT:C3609 MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym benign neoplasm of the uterus benign neoplasm of the uterus Benign Neoplasm of the Uterus NCIT:C3609 Benign Uterine Neoplasm benign neoplasm of the uterus NCIT:C3609 @@ -22300,7 +22019,6 @@ MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoblastic lymphoma MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoma, lymphoblastic, malignant lymphoma, lymphoblastic, malignant LYMPHOMA, LYMPHOBLASTIC, MALIGNANT NCIT:C9360 Lymphoblastic Lymphoma lymphoma, lymphoblastic, malignant NCIT:C9360 MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor cell lymphoblastic lymphoma precursor cell lymphoblastic lymphoma Precursor Cell Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma precursor cell lymphoblastic lymphoma NCIT:C9360 MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor lymphoblastic lymphoma precursor lymphoblastic lymphoma Precursor Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma precursor lymphoblastic lymphoma NCIT:C9360 -MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma T lymphoblastic lymphoma NCIT:C6919 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma T lymphoblastic lymphoma NCIT:C7210 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood T lymphoblastic lymphoma childhood T lymphoblastic lymphoma Childhood T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma childhood T lymphoblastic lymphoma NCIT:C7210 MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood precursor T-lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma Childhood Precursor T-Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma childhood precursor T-lymphoblastic lymphoma NCIT:C7210 @@ -22326,8 +22044,6 @@ MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant neoplasm of MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of Vater malignant tumor of ampulla of Vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of ampulla of Vater NCIT:C3536 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of vater malignant tumor of ampulla of vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of ampulla of vater NCIT:C3536 MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of the ampulla of Vater malignant tumor of the ampulla of Vater Malignant Tumor of the Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm malignant tumor of the ampulla of Vater NCIT:C3536 -MONDO:0000920 duodenum cancer oio:hasExactSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma cancer of duodenum NCIT:C4803 -MONDO:0000920 duodenum cancer oio:hasExactSynonym duodenal cancer duodenal cancer Duodenal Cancer NCIT:C4803 Duodenal Carcinoma duodenal cancer NCIT:C4803 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal neoplasm malignant duodenal neoplasm Malignant Duodenal Neoplasm NCIT:C9328 Malignant Duodenal Neoplasm malignant duodenal neoplasm NCIT:C9328 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal tumor malignant duodenal tumor Malignant Duodenal Tumor NCIT:C9328 Malignant Duodenal Neoplasm malignant duodenal tumor NCIT:C9328 MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant neoplasm of duodenum malignant neoplasm of duodenum Malignant Neoplasm of Duodenum NCIT:C9328 Malignant Duodenal Neoplasm malignant neoplasm of duodenum NCIT:C9328 @@ -22406,7 +22122,6 @@ MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of sma MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of small intestine malignant tumor of small intestine Malignant Tumor of Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of small intestine NCIT:C7523 MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small bowel malignant tumor of the small bowel Malignant Tumor of the Small Bowel NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of the small bowel NCIT:C7523 MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small intestine malignant tumor of the small intestine Malignant Tumor of the Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm malignant tumor of the small intestine NCIT:C7523 -MONDO:0000956 small intestine cancer oio:hasExactSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma small intestine cancer NCIT:C7724 MONDO:0000960 diabetic peripheral angiopathy oio:hasExactSynonym diabetic vascular disorder diabetic vascular disorder Diabetic Vascular Disorder NCIT:C35610 Diabetic Vascular Disorder diabetic vascular disorder NCIT:C35610 MONDO:0000961 endobronchial lipoma oio:hasExactSynonym endobronchial lipoma endobronchial lipoma Endobronchial Lipoma NCIT:C5063 Endobronchial Lipoma endobronchial lipoma NCIT:C5063 MONDO:0000962 spindle cell lipoma oio:hasExactSynonym spindle cell lipoma spindle cell lipoma Spindle Cell Lipoma NCIT:C4254 Spindle Cell Lipoma spindle cell lipoma NCIT:C4254 @@ -22422,8 +22137,8 @@ MONDO:0000965 liver lipoma oio:hasExactSynonym hepatic lipoma hepatic lipoma He MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of liver lipoma of liver Lipoma of Liver NCIT:C5750 Liver Lipoma lipoma of liver NCIT:C5750 MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of the liver lipoma of the liver Lipoma of the Liver NCIT:C5750 Liver Lipoma lipoma of the liver NCIT:C5750 MONDO:0000965 liver lipoma oio:hasExactSynonym liver lipoma liver lipoma Liver Lipoma NCIT:C5750 Liver Lipoma liver lipoma NCIT:C5750 -MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 +MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma pleomorphic lipoma NCIT:C3703 MONDO:0000967 conventional lipoma oio:hasExactSynonym classic type lipoma classic type lipoma Classic Type Lipoma NCIT:C27530 Conventional Lipoma classic type lipoma NCIT:C27530 MONDO:0000967 conventional lipoma oio:hasExactSynonym conventional lipoma conventional lipoma Conventional Lipoma NCIT:C27530 Conventional Lipoma conventional lipoma NCIT:C27530 MONDO:0000968 kidney lipoma oio:hasExactSynonym kidney lipoma kidney lipoma Kidney Lipoma NCIT:C5101 Kidney Lipoma kidney lipoma NCIT:C5101 @@ -22499,10 +22214,6 @@ MONDO:0001045 intestinal atresia oio:hasExactSynonym congenital intestinal atre MONDO:0001045 intestinal atresia oio:hasExactSynonym intestinal atresia intestinal atresia Intestinal Atresia NCIT:C84790 Intestinal Atresia intestinal atresia NCIT:C84790 MONDO:0001046 imperforate anus oio:hasExactSynonym anal atresia anal atresia Anal Atresia NCIT:C84784 Imperforate Anus anal atresia NCIT:C84784 MONDO:0001046 imperforate anus oio:hasExactSynonym imperforate anus imperforate anus Imperforate Anus NCIT:C84784 Imperforate Anus imperforate anus NCIT:C84784 -MONDO:0001056 gastric cancer oio:hasExactSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma cancer of stomach NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma gastric cancer NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma stomach cancer NCIT:C4911 -MONDO:0001056 gastric cancer oio:hasExactSynonym GC NCIT:C92950 Gonorrhea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GC NCIT:C92950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric neoplasm malignant gastric neoplasm Malignant Gastric Neoplasm NCIT:C9331 Malignant Gastric Neoplasm malignant gastric neoplasm NCIT:C9331 MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric tumor malignant gastric tumor Malignant Gastric Tumor NCIT:C9331 Malignant Gastric Neoplasm malignant gastric tumor NCIT:C9331 MONDO:0001056 gastric cancer oio:hasExactSynonym malignant neoplasm of stomach malignant neoplasm of stomach Malignant Neoplasm of Stomach NCIT:C9331 Malignant Gastric Neoplasm malignant neoplasm of stomach NCIT:C9331 @@ -22577,8 +22288,6 @@ MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nas MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of the nasal cavity malignant neoplasm of the nasal cavity Malignant Neoplasm of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant neoplasm of the nasal cavity NCIT:C4918 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of nasal cavity malignant tumor of nasal cavity Malignant Tumor of Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant tumor of nasal cavity NCIT:C4918 MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity malignant tumor of the nasal cavity Malignant Tumor of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm malignant tumor of the nasal cavity NCIT:C4918 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma cancer of nasal cavity NCIT:C9336 -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma nasal cavity cancer NCIT:C9336 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma nasal cavity olfactory neuroblastoma Nasal Cavity Olfactory Neuroblastoma NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma nasal cavity olfactory neuroblastoma NCIT:C7604 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of nasal cavity olfactory neuroblastoma of nasal cavity Olfactory Neuroblastoma of Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma olfactory neuroblastoma of nasal cavity NCIT:C7604 MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory Neuroblastoma of the Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma olfactory neuroblastoma of the nasal cavity NCIT:C7604 @@ -22596,9 +22305,7 @@ MONDO:0001147 meningocele oio:hasExactSynonym central nervous system meningocel MONDO:0001147 meningocele oio:hasExactSynonym meningocele meningocele Meningocele NCIT:C105595 Meningocele meningocele NCIT:C105595 MONDO:0001149 microcephaly oio:hasExactSynonym microcephalus microcephalus Microcephalus NCIT:C85874 Microcephaly microcephalus NCIT:C85874 MONDO:0001149 microcephaly oio:hasExactSynonym microcephaly microcephaly Microcephaly NCIT:C85874 Microcephaly microcephaly NCIT:C85874 -MONDO:0001156 borderline personality disorder oio:hasExactSynonym BPD NCIT:C90599 Bronchopulmonary Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BPD NCIT:C90599 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder borderline personality disorder Borderline Personality Disorder NCIT:C92633 Borderline Personality Disorder borderline personality disorder NCIT:C92633 -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative Identity Disorder NCIT:C94330 Dissociative Identity Disorder dissociative identity disorder NCIT:C94330 MONDO:0001162 impulse control disorder oio:hasExactSynonym impulse-control disorder impulse-control disorder Impulse-Control Disorder NCIT:C34723 Impulse-Control Disorder impulse-control disorder NCIT:C34723 @@ -22609,8 +22316,6 @@ MONDO:0001167 spastic diplegia oio:hasExactSynonym Little's disease Little's di MONDO:0001172 salpingo-oophoritis oio:hasExactSynonym Tubo-ovarian inflammatory disease Tubo-ovarian inflammatory disease Tubo-Ovarian Inflammatory Disease NCIT:C171201 Salpingo-Oophoritis Tubo-ovarian inflammatory disease NCIT:C171201 MONDO:0001174 conjunctival vascular disorder oio:hasExactSynonym conjunctival vascular disorder conjunctival vascular disorder Conjunctival Vascular Disorder NCIT:C35116 Conjunctival Vascular Disorder conjunctival vascular disorder NCIT:C35116 MONDO:0001176 lens disorder oio:hasExactSynonym lens disorder lens disorder Lens Disorder NCIT:C26812 Lens Disorder lens disorder NCIT:C26812 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym cancer of urinary bladder cancer of urinary bladder Cancer of Urinary Bladder NCIT:C4912 Bladder Carcinoma cancer of urinary bladder NCIT:C4912 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym urinary bladder cancer urinary bladder cancer Urinary Bladder Cancer NCIT:C4912 Bladder Carcinoma urinary bladder cancer NCIT:C4912 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder neoplasm malignant bladder neoplasm Malignant Bladder Neoplasm NCIT:C9334 Malignant Bladder Neoplasm malignant bladder neoplasm NCIT:C9334 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder tumor malignant bladder tumor Malignant Bladder Tumor NCIT:C9334 Malignant Bladder Neoplasm malignant bladder tumor NCIT:C9334 MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant neoplasm of bladder malignant neoplasm of bladder Malignant Neoplasm of Bladder NCIT:C9334 Malignant Bladder Neoplasm malignant neoplasm of bladder NCIT:C9334 @@ -22734,7 +22439,6 @@ MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis neopla MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis tumor malignant subglottis tumor Malignant Subglottis Tumor NCIT:C3546 Malignant Subglottis Neoplasm malignant subglottis tumor NCIT:C3546 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of subglottis malignant tumor of subglottis Malignant Tumor of Subglottis NCIT:C3546 Malignant Subglottis Neoplasm malignant tumor of subglottis NCIT:C3546 MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of the subglottis malignant tumor of the subglottis Malignant Tumor of the Subglottis NCIT:C3546 Malignant Subglottis Neoplasm malignant tumor of the subglottis NCIT:C3546 -MONDO:0001293 subglottis cancer oio:hasExactSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma cancer of subglottis NCIT:C5972 MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner syndrome Horner syndrome Horner Syndrome NCIT:C28155 Horner Syndrome Horner syndrome NCIT:C28155 MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner's syndrome Horner's syndrome Horner's Syndrome NCIT:C28155 Horner Syndrome Horner's syndrome NCIT:C28155 MONDO:0001297 cardiac tamponade oio:hasExactSynonym pericardial tamponade pericardial tamponade Pericardial Tamponade NCIT:C50481 Cardiac Tamponade pericardial tamponade NCIT:C50481 @@ -22755,8 +22459,6 @@ MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile neoplasm malig MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile tumor malignant penile tumor Malignant Penile Tumor NCIT:C7547 Malignant Penile Neoplasm malignant penile tumor NCIT:C7547 MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of penis malignant tumor of penis Malignant Tumor of Penis NCIT:C7547 Malignant Penile Neoplasm malignant tumor of penis NCIT:C7547 MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of the penis malignant tumor of the penis Malignant Tumor of the Penis NCIT:C7547 Malignant Penile Neoplasm malignant tumor of the penis NCIT:C7547 -MONDO:0001325 penile cancer oio:hasExactSynonym cancer of penis cancer of penis Cancer of Penis NCIT:C9061 Penile Carcinoma cancer of penis NCIT:C9061 -MONDO:0001325 penile cancer oio:hasExactSynonym penile cancer penile cancer Penile Cancer NCIT:C9061 Penile Carcinoma penile cancer NCIT:C9061 MONDO:0001340 heart cancer oio:hasExactSynonym Cardiac neoplasm, malignant Cardiac neoplasm, malignant Cardiac Neoplasm, Malignant NCIT:C3548 Malignant Cardiac Neoplasm Cardiac neoplasm, malignant NCIT:C3548 MONDO:0001340 heart cancer oio:hasExactSynonym heart cancer heart cancer Heart Cancer NCIT:C3548 Malignant Cardiac Neoplasm heart cancer NCIT:C3548 MONDO:0001340 heart cancer oio:hasExactSynonym malignant Cardiac neoplasm malignant Cardiac neoplasm Malignant Cardiac Neoplasm NCIT:C3548 Malignant Cardiac Neoplasm malignant Cardiac neoplasm NCIT:C3548 @@ -22810,8 +22512,6 @@ MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter neurilemmoma uret MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter schwannoma ureter schwannoma Ureter Schwannoma NCIT:C6162 Ureter Schwannoma ureter schwannoma NCIT:C6162 MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral neurilemmoma ureteral neurilemmoma Ureteral Neurilemmoma NCIT:C6162 Ureter Schwannoma ureteral neurilemmoma NCIT:C6162 MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral schwannoma ureteral schwannoma Ureteral Schwannoma NCIT:C6162 Ureter Schwannoma ureteral schwannoma NCIT:C6162 -MONDO:0001402 vaginal cancer oio:hasExactSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma cancer of vagina NCIT:C3917 -MONDO:0001402 vaginal cancer oio:hasExactSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma vagina cancer NCIT:C3917 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of the vagina malignant neoplasm of the vagina Malignant Neoplasm of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant neoplasm of the vagina NCIT:C7410 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of vagina malignant neoplasm of vagina Malignant Neoplasm of Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant neoplasm of vagina NCIT:C7410 MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant tumor of the vagina malignant tumor of the vagina Malignant Tumor of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm malignant tumor of the vagina NCIT:C7410 @@ -22856,8 +22556,6 @@ MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal neoplasm m MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal tumor malignant tracheal tumor Malignant Tracheal Tumor NCIT:C9346 Malignant Tracheal Neoplasm malignant tracheal tumor NCIT:C9346 MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of the trachea malignant tumor of the trachea Malignant Tumor of the Trachea NCIT:C9346 Malignant Tracheal Neoplasm malignant tumor of the trachea NCIT:C9346 MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of trachea malignant tumor of trachea Malignant Tumor of Trachea NCIT:C9346 Malignant Tracheal Neoplasm malignant tumor of trachea NCIT:C9346 -MONDO:0001407 tracheal cancer oio:hasExactSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma cancer of trachea NCIT:C9347 -MONDO:0001407 tracheal cancer oio:hasExactSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma trachea cancer NCIT:C9347 MONDO:0001409 esophagitis oio:hasExactSynonym esophagitis esophagitis Esophagitis NCIT:C9224 Esophagitis esophagitis NCIT:C9224 MONDO:0001414 osteopoikilosis oio:hasExactSynonym osteopoikilosis osteopoikilosis Osteopoikilosis NCIT:C84985 Osteopoikilosis osteopoikilosis NCIT:C84985 MONDO:0001415 atrophy of testis oio:hasExactSynonym testicular atrophy testicular atrophy Testicular Atrophy NCIT:C123259 Testicular Atrophy testicular atrophy NCIT:C123259 @@ -22952,7 +22650,6 @@ MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of lab MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of the labia minora malignant neoplasm of the labia minora Malignant Neoplasm of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant neoplasm of the labia minora NCIT:C7637 MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of labia minora malignant tumor of labia minora Malignant Tumor of Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant tumor of labia minora NCIT:C7637 MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of the labia minora malignant tumor of the labia minora Malignant Tumor of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm malignant tumor of the labia minora NCIT:C7637 -MONDO:0001528 vulva cancer oio:hasExactSynonym vulvar cancer vulvar cancer Vulvar Cancer NCIT:C4866 Vulvar Carcinoma vulvar cancer NCIT:C4866 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of the vulva malignant neoplasm of the vulva Malignant Neoplasm of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant neoplasm of the vulva NCIT:C7502 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of vulva malignant neoplasm of vulva Malignant Neoplasm of Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant neoplasm of vulva NCIT:C7502 MONDO:0001528 vulva cancer oio:hasExactSynonym malignant tumor of the vulva malignant tumor of the vulva Malignant Tumor of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm malignant tumor of the vulva NCIT:C7502 @@ -23012,7 +22709,6 @@ MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of la MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of the lacrimal duct malignant neoplasm of the lacrimal duct Malignant Neoplasm of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant neoplasm of the lacrimal duct NCIT:C3567 MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of lacrimal duct malignant tumor of lacrimal duct Malignant Tumor of Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant tumor of lacrimal duct NCIT:C3567 MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of the lacrimal duct malignant tumor of the lacrimal duct Malignant Tumor of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm malignant tumor of the lacrimal duct NCIT:C3567 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I Mucopolysaccharidosis Type I NCIT:C85053 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I mucopolysaccharidosis type I NCIT:C85053 MONDO:0001590 quadriplegia oio:hasExactSynonym bilateral diplegia bilateral diplegia Bilateral Diplegia NCIT:C50721 Quadriplegia bilateral diplegia NCIT:C50721 @@ -23243,8 +22939,8 @@ MONDO:0001825 squamous papilloma oio:hasExactSynonym epidermoid papilloma epide MONDO:0001825 squamous papilloma oio:hasExactSynonym keratotic papilloma keratotic papilloma Keratotic Papilloma NCIT:C3712 Squamous Papilloma keratotic papilloma NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym papilloma, squamous cell, benign papilloma, squamous cell, benign PAPILLOMA, SQUAMOUS CELL, BENIGN NCIT:C3712 Squamous Papilloma papilloma, squamous cell, benign NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous cell papilloma squamous cell papilloma Squamous Cell Papilloma NCIT:C3712 Squamous Papilloma squamous cell papilloma NCIT:C3712 -MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous Papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 +MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma squamous papilloma NCIT:C3712 MONDO:0001832 bacterial esophagitis oio:hasExactSynonym bacterial esophagitis bacterial esophagitis Bacterial Esophagitis NCIT:C27106 Bacterial Esophagitis bacterial esophagitis NCIT:C27106 MONDO:0001834 visual pathway disorder oio:hasExactSynonym visual pathway disorder visual pathway disorder Visual Pathway Disorder NCIT:C35342 Visual Pathway Disorder visual pathway disorder NCIT:C35342 MONDO:0001836 amenorrhea oio:hasExactSynonym amenorrhea amenorrhea Amenorrhea NCIT:C61443 Amenorrhea amenorrhea NCIT:C61443 @@ -23273,7 +22969,6 @@ MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of anus malign MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of the anus malignant neoplasm of the anus Malignant Neoplasm of the Anus NCIT:C7379 Malignant Anal Neoplasm malignant neoplasm of the anus NCIT:C7379 MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of anus malignant tumor of anus Malignant Tumor of Anus NCIT:C7379 Malignant Anal Neoplasm malignant tumor of anus NCIT:C7379 MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of the anus malignant tumor of the anus Malignant Tumor of the Anus NCIT:C7379 Malignant Anal Neoplasm malignant tumor of the anus NCIT:C7379 -MONDO:0001879 anus cancer oio:hasExactSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma cancer of anus NCIT:C9291 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome toxic shock syndrome Toxic Shock Syndrome NCIT:C35498 Toxic Shock Syndrome toxic shock syndrome NCIT:C35498 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS NCIT:C35498 Toxic Shock Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TSS NCIT:C35498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve neoplasms VIth cranial nerve neoplasms VIth Cranial Nerve Neoplasms NCIT:C5826 Abducens Nerve Neoplasm VIth cranial nerve neoplasms NCIT:C5826 @@ -23429,12 +23124,10 @@ MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym methylmalonic aciduria methylmalonic aciduria Methylmalonic Aciduria NCIT:C98986 Methylmalonic Acidemia methylmalonic aciduria NCIT:C98986 MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma NCIT:C8965 Lymphangioma lymphangioma NCIT:C8965 MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma, benign lymphangioma, benign LYMPHANGIOMA, BENIGN NCIT:C8965 Lymphangioma lymphangioma, benign NCIT:C8965 -MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 WADIA-swami syndrome NCIT:C148315 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disease Psychiatric disease Psychiatric Disease NCIT:C2893 Psychiatric Disorder Psychiatric disease NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder NCIT:C2893 Psychiatric Disorder Psychiatric disorder NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder Psychiatric disorder Psychiatric Disorder NCIT:C2893 Psychiatric Disorder Psychiatric disorder NCIT:C2893 MONDO:0002026 candidiasis oio:hasExactSynonym Candida infection Candida infection Candida Infection NCIT:C26711 Candidiasis Candida infection NCIT:C26711 -MONDO:0002026 candidiasis oio:hasExactSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis thrush NCIT:C28137 MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder personality disorder Personality Disorder NCIT:C34922 Personality Disorder personality disorder NCIT:C34922 MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of colon carcinoma of colon Carcinoma of Colon NCIT:C4910 Colon Carcinoma carcinoma of colon NCIT:C4910 MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of the colon carcinoma of the colon Carcinoma of the Colon NCIT:C4910 Colon Carcinoma carcinoma of the colon NCIT:C4910 @@ -23466,7 +23159,6 @@ MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcino MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder cognitive disorder Cognitive Disorder NCIT:C92196 Cognitive Disorder cognitive disorder NCIT:C92196 MONDO:0002041 fungal infectious disease oio:hasExactSynonym mycosis mycosis Mycosis NCIT:C3245 Fungal Infection mycosis NCIT:C3245 MONDO:0002045 communicating hydrocephalus oio:hasExactSynonym non-obstructive hydrocephalus non-obstructive hydrocephalus Non-Obstructive Hydrocephalus NCIT:C34501 Communicating Hydrocephalus non-obstructive hydrocephalus NCIT:C34501 -MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia immune thrombocytopenia NCIT:C3446 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction immune thrombocytopenia NCIT:C3991 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym thrombocytopenia due to immune destruction thrombocytopenia due to immune destruction Thrombocytopenia Due to Immune Destruction NCIT:C3991 Thrombocytopenia Due to Immune Destruction thrombocytopenia due to immune destruction NCIT:C3991 MONDO:0002050 depressive disorder oio:hasExactSynonym depression depression Depression NCIT:C2982 Depression depression NCIT:C2982 @@ -23484,10 +23176,10 @@ MONDO:0002056 breast fibroadenoma oio:hasExactSynonym fibroadenoma, benign fibr MONDO:0002057 breast leiomyoma oio:hasExactSynonym breast leiomyoma breast leiomyoma Breast Leiomyoma NCIT:C40399 Breast Leiomyoma breast leiomyoma NCIT:C40399 MONDO:0002058 breast adenoma oio:hasExactSynonym breast adenoma breast adenoma Breast Adenoma NCIT:C40382 Breast Adenoma breast adenoma NCIT:C40382 MONDO:0002060 intraductal papilloma oio:hasExactSynonym duct adenoma duct adenoma Duct Adenoma NCIT:C3785 Intraductal Papilloma duct adenoma NCIT:C3785 -MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal Papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 -MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 +MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma ductal papilloma NCIT:C3785 MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal Papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 +MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma intraductal papilloma NCIT:C3785 MONDO:0002061 intraductal papillary breast neoplasm oio:hasExactSynonym intraductal papillary breast neoplasm intraductal papillary breast neoplasm Intraductal Papillary Breast Neoplasm NCIT:C36090 Breast Intraductal Papillary Neoplasm intraductal papillary breast neoplasm NCIT:C36090 MONDO:0002062 breast myofibroblastoma oio:hasExactSynonym breast myofibroblastoma breast myofibroblastoma Breast Myofibroblastoma NCIT:C40397 Breast Myofibroblastoma breast myofibroblastoma NCIT:C40397 MONDO:0002065 benign breast adenomyoepithelioma oio:hasExactSynonym benign adenomyoepithelioma of breast benign adenomyoepithelioma of breast Benign Adenomyoepithelioma of Breast NCIT:C5144 Benign Breast Adenomyoepithelioma benign adenomyoepithelioma of breast NCIT:C5144 @@ -23596,7 +23288,6 @@ MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of facial nerve t MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of seventh cranial nerve tumor of seventh cranial nerve Tumor of Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of seventh cranial nerve NCIT:C5827 MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the Facial nerve tumor of the Facial nerve Tumor of the Facial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of the Facial nerve NCIT:C5827 MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the seventh cranial nerve tumor of the seventh cranial nerve Tumor of the Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm tumor of the seventh cranial nerve NCIT:C5827 -MONDO:0002108 thyroid cancer oio:hasExactSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma thyroid gland cancer NCIT:C4815 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid malignant neoplasm of the thyroid Malignant Neoplasm of the Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of the thyroid NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid gland malignant neoplasm of the thyroid gland Malignant Neoplasm of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of the thyroid gland NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of thyroid malignant neoplasm of thyroid Malignant Neoplasm of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant neoplasm of thyroid NCIT:C7510 @@ -23609,8 +23300,6 @@ MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid gland malignant tumor of the thyroid gland Malignant Tumor of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of the thyroid gland NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid malignant tumor of thyroid Malignant Tumor of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of thyroid NCIT:C7510 MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid gland malignant tumor of thyroid gland Malignant Tumor of Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm malignant tumor of thyroid gland NCIT:C7510 -MONDO:0002109 pituitary cancer oio:hasExactSynonym cancer of pituitary gland cancer of pituitary gland Cancer of Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor cancer of pituitary gland NCIT:C4536 -MONDO:0002109 pituitary cancer oio:hasExactSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor pituitary gland cancer NCIT:C4536 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary malignant neoplasm of pituitary Malignant Neoplasm of Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of pituitary NCIT:C4769 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary gland malignant neoplasm of pituitary gland Malignant Neoplasm of Pituitary Gland NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of pituitary gland NCIT:C4769 MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of the pituitary malignant neoplasm of the pituitary Malignant Neoplasm of the Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm malignant neoplasm of the pituitary NCIT:C4769 @@ -23645,16 +23334,15 @@ MONDO:0002118 urinary system disorder oio:hasExactSynonym disorder of urinary s MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary system disorder urinary system disorder Urinary System Disorder NCIT:C3430 Urinary System Disorder urinary system disorder NCIT:C3430 MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary tract disorder NCIT:C3430 Urinary System Disorder urinary tract disorder NCIT:C3430 MONDO:0002118 urinary system disorder oio:hasExactSynonym urologic disorder urologic disorder Urologic Disorder NCIT:C3430 Urinary System Disorder urologic disorder NCIT:C3430 -MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying Fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 -MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 +MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma ossifying fibroma NCIT:C173820 MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma Cementifying fibroma Cementifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 +MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma Cementifying fibroma NCIT:C8422 MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-Ossifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma cemento-ossifying fibroma NCIT:C8422 MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-ossifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma cemento-ossifying fibroma NCIT:C8422 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine cancer neuroendocrine cancer Neuroendocrine Cancer NCIT:C3773 Neuroendocrine Carcinoma neuroendocrine cancer NCIT:C3773 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine carcinoma neuroendocrine carcinoma Neuroendocrine Carcinoma NCIT:C3773 Neuroendocrine Carcinoma neuroendocrine carcinoma NCIT:C3773 MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002123 calcinosis oio:hasExactSynonym calcification calcification Calcification NCIT:C3672 Calcification calcification NCIT:C3672 MONDO:0002127 urethral stricture oio:hasExactSynonym urethral stricture urethral stricture Urethral Stricture NCIT:C79821 Urethral Stricture urethral stricture NCIT:C79821 MONDO:0002128 mononeuritis multiplex oio:hasExactSynonym mononeuritis multiplex mononeuritis multiplex Mononeuritis Multiplex NCIT:C70938 Mononeuritis Multiplex mononeuritis multiplex NCIT:C70938 @@ -23692,14 +23380,14 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storifor MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storiform-pleomorphic malignant fibrous histiocytoma Storiform-pleomorphic malignant fibrous histiocytoma Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma Storiform-pleomorphic malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma fibroxanthosarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym histiocytoma, fibrous, malignant histiocytoma, fibrous, malignant Histiocytoma, Fibrous, Malignant NCIT:C4247 Undifferentiated Pleomorphic Sarcoma histiocytoma, fibrous, malignant NCIT:C4247 -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of soft tissue and bone Malignant Fibrous Histiocytoma of Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma of soft tissue and bone NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of the soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone Malignant Fibrous Histiocytoma of the Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibrous histiocytoma of the soft tissue and bone NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma malignant fibroxanthoma Malignant Fibroxanthoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma malignant fibroxanthoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym unclassified pleomorphic sarcoma unclassified pleomorphic sarcoma Unclassified Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma unclassified pleomorphic sarcoma NCIT:C4247 -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic soft tissue sarcoma undifferentiated pleomorphic soft tissue sarcoma Undifferentiated Pleomorphic Soft Tissue Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma undifferentiated pleomorphic soft tissue sarcoma NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MFH NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym UPS NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION UPS NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -23720,8 +23408,6 @@ MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproduc MONDO:0002154 trichomoniasis oio:hasExactSynonym Trichomonas infection Trichomonas infection Trichomonas Infection NCIT:C35720 Trichomonas Infection Trichomonas infection NCIT:C35720 MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disease fallopian tube disease Fallopian Tube Disease NCIT:C26771 Fallopian Tube Disorder fallopian tube disease NCIT:C26771 MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disorder fallopian tube disorder Fallopian Tube Disorder NCIT:C26771 Fallopian Tube Disorder fallopian tube disorder NCIT:C26771 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym cancer of fallopian tube cancer of fallopian tube Cancer of Fallopian Tube NCIT:C3867 Fallopian Tube Carcinoma cancer of fallopian tube NCIT:C3867 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube cancer fallopian tube cancer Fallopian Tube Cancer NCIT:C3867 Fallopian Tube Carcinoma fallopian tube cancer NCIT:C3867 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant neoplasm fallopian tube malignant neoplasm Fallopian Tube Malignant Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm fallopian tube malignant neoplasm NCIT:C7480 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant tumor fallopian tube malignant tumor Fallopian Tube Malignant Tumor NCIT:C7480 Malignant Fallopian Tube Neoplasm fallopian tube malignant tumor NCIT:C7480 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym malignant fallopian tube neoplasm malignant fallopian tube neoplasm Malignant Fallopian Tube Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm malignant fallopian tube neoplasm NCIT:C7480 @@ -23777,8 +23463,8 @@ MONDO:0002185 hyperostosis oio:hasExactSynonym bone hypertrophy bone hypertroph MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disease vulvar disease Vulvar Disease NCIT:C27631 Vulvar Disorder vulvar disease NCIT:C27631 MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disorder vulvar disorder Vulvar Disorder NCIT:C27631 Vulvar Disorder vulvar disorder NCIT:C27631 MONDO:0002188 vulvar nodular hidradenoma oio:hasExactSynonym vulvar nodular hidradenoma vulvar nodular hidradenoma Vulvar Nodular Hidradenoma NCIT:C40312 Vulvar Nodular Hidradenoma vulvar nodular hidradenoma NCIT:C40312 -MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular Hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 +MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma nodular hidradenoma NCIT:C7568 MONDO:0002190 vulvar syringoma oio:hasExactSynonym vulvar syringoma vulvar syringoma Vulvar Syringoma NCIT:C40311 Vulvar Syringoma vulvar syringoma NCIT:C40311 MONDO:0002191 syringoma oio:hasExactSynonym eccrine syringoma eccrine syringoma Eccrine Syringoma NCIT:C3761 Syringoma eccrine syringoma NCIT:C3761 MONDO:0002191 syringoma oio:hasExactSynonym syringoma syringoma Syringoma NCIT:C3761 Syringoma syringoma NCIT:C3761 @@ -23795,8 +23481,8 @@ MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumo MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of skin (chondroid syringoma) benign mixed tumor of skin (chondroid syringoma) Benign Mixed Tumor of Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of skin (chondroid syringoma) NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin benign mixed tumor of the skin Benign Mixed Tumor of the Skin NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of the skin NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin (chondroid syringoma) benign mixed tumor of the skin (chondroid syringoma) Benign Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin benign mixed tumor of the skin (chondroid syringoma) NCIT:C4474 -MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 +MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin chondroid syringoma NCIT:C4474 MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym mixed tumor of the skin (chondroid syringoma) mixed tumor of the skin (chondroid syringoma) Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin mixed tumor of the skin (chondroid syringoma) NCIT:C4474 MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoblastoma vulvar trichoblastoma Vulvar Trichoblastoma NCIT:C40314 Vulvar Trichoblastoma vulvar trichoblastoma NCIT:C40314 MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoepithelioma vulvar trichoepithelioma Vulvar Trichoepithelioma NCIT:C40314 Vulvar Trichoblastoma vulvar trichoepithelioma NCIT:C40314 @@ -23872,8 +23558,8 @@ MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of eye malignan MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of the eye malignant tumor of the eye Malignant Tumor of the Eye NCIT:C4767 Malignant Eye Neoplasm malignant tumor of the eye NCIT:C4767 MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency coagulation factor deficiency Coagulation Factor Deficiency NCIT:C27215 Coagulation Factor Deficiency coagulation factor deficiency NCIT:C27215 MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency syndrome coagulation factor deficiency syndrome Coagulation Factor Deficiency Syndrome NCIT:C27215 Coagulation Factor Deficiency coagulation factor deficiency syndrome NCIT:C27215 -MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 +MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis bleeding diathesis NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding disorder bleeding disorder Bleeding Disorder NCIT:C115221 Bleeding Diathesis bleeding disorder NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding predisposition bleeding predisposition Bleeding Predisposition NCIT:C115221 Bleeding Diathesis bleeding predisposition NCIT:C115221 MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding tendency bleeding tendency Bleeding Tendency NCIT:C115221 Bleeding Diathesis bleeding tendency NCIT:C115221 @@ -24027,10 +23713,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of glottis MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of the glottis malignant neoplasm of the glottis Malignant Neoplasm of the Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant neoplasm of the glottis NCIT:C3544 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis malignant tumor of glottis Malignant Tumor of Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant tumor of glottis NCIT:C3544 MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis Malignant Tumor of the Glottis NCIT:C3544 Malignant Glottis Neoplasm malignant tumor of the glottis NCIT:C3544 -MONDO:0002351 glottis cancer oio:hasExactSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma cancer of glottis NCIT:C4923 -MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer glottis cancer Glottis Cancer NCIT:C4923 Glottis Carcinoma glottis cancer NCIT:C4923 -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx cancer of larynx Cancer of Larynx NCIT:C4855 Laryngeal Carcinoma cancer of larynx NCIT:C4855 -MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer larynx cancer Larynx Cancer NCIT:C4855 Laryngeal Carcinoma larynx cancer NCIT:C4855 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal neoplasm malignant laryngeal neoplasm Malignant Laryngeal Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm malignant laryngeal neoplasm NCIT:C7484 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal tumor malignant laryngeal tumor Malignant Laryngeal Tumor NCIT:C7484 Malignant Laryngeal Neoplasm malignant laryngeal tumor NCIT:C7484 MONDO:0002352 larynx cancer oio:hasExactSynonym malignant larynx neoplasm malignant larynx neoplasm Malignant Larynx Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm malignant larynx neoplasm NCIT:C7484 @@ -24092,12 +23774,10 @@ MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal neoplasm malign MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal tumor malignant renal tumor Malignant Renal Tumor NCIT:C7548 Malignant Kidney Neoplasm malignant renal tumor NCIT:C7548 MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of kidney malignant tumor of kidney Malignant Tumor of Kidney NCIT:C7548 Malignant Kidney Neoplasm malignant tumor of kidney NCIT:C7548 MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of the kidney malignant tumor of the kidney Malignant Tumor of the Kidney NCIT:C7548 Malignant Kidney Neoplasm malignant tumor of the kidney NCIT:C7548 -MONDO:0002367 kidney cancer oio:hasExactSynonym kidney cancer kidney cancer Kidney Cancer NCIT:C9384 Kidney Carcinoma kidney cancer NCIT:C9384 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary serous adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous adenocarcinoma NCIT:C8377 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary Serous Cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 -MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma cystoma NCIT:C2964 +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma papillary serous cystadenocarcinoma NCIT:C8377 MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma cystadenoma NCIT:C2972 MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma, benign cystadenoma, benign CYSTADENOMA, BENIGN NCIT:C2972 Cystadenoma cystadenoma, benign NCIT:C2972 MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma cystoma NCIT:C2972 @@ -24109,8 +23789,8 @@ MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner neoplas MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner tumor ovarian Brenner tumor Ovarian Brenner Tumor NCIT:C3872 Ovarian Brenner Tumor ovarian Brenner tumor NCIT:C3872 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym breast pericanalicular fibroadenoma breast pericanalicular fibroadenoma Breast Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma breast pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular breast fibroadenoma pericanalicular breast fibroadenoma Pericanalicular Breast Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular breast fibroadenoma NCIT:C4272 -MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 +MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of breast pericanalicular fibroadenoma of breast Pericanalicular Fibroadenoma of Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma of breast NCIT:C4272 MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of the breast pericanalicular fibroadenoma of the breast Pericanalicular Fibroadenoma of the Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma pericanalicular fibroadenoma of the breast NCIT:C4272 MONDO:0002372 ovarian monodermal and highly specialized teratoma oio:hasExactSynonym ovarian germ cell monodermal and highly specialized teratoma ovarian germ cell monodermal and highly specialized teratoma Ovarian Germ Cell Monodermal and Highly Specialized Teratoma NCIT:C8113 Ovarian Monodermal and Highly Specialized Teratoma ovarian germ cell monodermal and highly specialized teratoma NCIT:C8113 @@ -24218,8 +23898,8 @@ MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of skin inflammation MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of the skin inflammation of the skin Inflammation of the Skin NCIT:C2983 Dermatitis inflammation of the skin NCIT:C2983 MONDO:0002406 dermatitis oio:hasExactSynonym skin inflammation skin inflammation Skin Inflammation NCIT:C2983 Dermatitis skin inflammation NCIT:C2983 MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary angioma capillary angioma Capillary Angioma NCIT:C7457 Capillary Hemangioma capillary angioma NCIT:C7457 -MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 +MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma capillary hemangioma NCIT:C7457 MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym hereditary hyperbilirubinemia hereditary hyperbilirubinemia Hereditary Hyperbilirubinemia NCIT:C84761 Hereditary Hyperbilirubinemia hereditary hyperbilirubinemia NCIT:C84761 MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen Storage Disease NCIT:C61272 Glycogen Storage Disease glycogen storage disease NCIT:C61272 MONDO:0002413 glycogen storage disease I oio:hasExactSynonym Glycogen Storage Disease Type I NCIT:C84733 Glycogen Storage Disease Type I Glycogen Storage Disease Type I NCIT:C84733 @@ -24246,10 +23926,10 @@ MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym adenocarcinoma o MONDO:0002419 transient tic disorder oio:hasExactSynonym benign Tic disorder of childhood benign Tic disorder of childhood Benign Tic Disorder of Childhood NCIT:C116767 Transient Tic Disorder benign Tic disorder of childhood NCIT:C116767 MONDO:0002422 adamantinoma oio:hasExactSynonym Extragnathic adamantinoma Extragnathic adamantinoma Extragnathic Adamantinoma NCIT:C7644 Adamantinoma Extragnathic adamantinoma NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma adamantinoma NCIT:C7644 -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of long bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma adamantinoma of long bones NCIT:C7644 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant ADAMANTINOMA, MALIGNANT NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma adamantinoma, malignant NCIT:C7644 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of rectosigmoid junction neoplasm of rectosigmoid junction Neoplasm of Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm neoplasm of rectosigmoid junction NCIT:C4877 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of the rectosigmoid junction neoplasm of the rectosigmoid junction Neoplasm of the Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm neoplasm of the rectosigmoid junction NCIT:C4877 MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym rectosigmoid neoplasm rectosigmoid neoplasm Rectosigmoid Neoplasm NCIT:C4877 Rectosigmoid Neoplasm rectosigmoid neoplasm NCIT:C4877 @@ -24352,8 +24032,8 @@ MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of lacrimal syst MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of the lacrimal system tumor of the lacrimal system Tumor of the Lacrimal System NCIT:C5102 Lacrimal System Neoplasm tumor of the lacrimal system NCIT:C5102 MONDO:0002461 membranoproliferative glomerulonephritis oio:hasExactSynonym membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis Membranoproliferative Glomerulonephritis NCIT:C34644 Membranoproliferative Glomerulonephritis membranoproliferative glomerulonephritis NCIT:C34644 MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerular nephritis glomerular nephritis Glomerular Nephritis NCIT:C26784 Glomerulonephritis glomerular nephritis NCIT:C26784 -MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis Glomerulonephritis NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 +MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis glomerulonephritis NCIT:C26784 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of lacrimal gland carcinoma of lacrimal gland Carcinoma of Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma carcinoma of lacrimal gland NCIT:C6129 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of the lacrimal gland carcinoma of the lacrimal gland Carcinoma of the Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma carcinoma of the lacrimal gland NCIT:C6129 MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym lacrimal gland carcinoma lacrimal gland carcinoma Lacrimal Gland Carcinoma NCIT:C6129 Lacrimal Gland Carcinoma lacrimal gland carcinoma NCIT:C6129 @@ -24435,14 +24115,13 @@ MONDO:0002492 acute kidney failure oio:hasExactSynonym acute kidney injury acut MONDO:0002492 acute kidney failure oio:hasExactSynonym acute renal failure acute renal failure Acute Renal Failure NCIT:C26808 Acute Renal Failure acute renal failure NCIT:C26808 MONDO:0002492 acute kidney failure oio:hasExactSynonym AKI NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AKI NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of prostate acinar adenocarcinoma of prostate Acinar Adenocarcinoma of Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma acinar adenocarcinoma of prostate NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of the prostate acinar adenocarcinoma of the prostate Acinar Adenocarcinoma of the Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma acinar adenocarcinoma of the prostate NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar prostate adenocarcinoma acinar prostate adenocarcinoma Acinar Prostate Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma acinar prostate adenocarcinoma NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostate acinar adenocarcinoma prostate acinar adenocarcinoma Prostate Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma prostate acinar adenocarcinoma NCIT:C5596 MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostatic acinar adenocarcinoma prostatic acinar adenocarcinoma Prostatic Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma prostatic acinar adenocarcinoma NCIT:C5596 -MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-Related Disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 +MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder substance-related disorder NCIT:C92203 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colon signet Ring cell adenocarcinoma colon signet Ring cell adenocarcinoma Colon Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma colon signet Ring cell adenocarcinoma NCIT:C7967 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colonic signet Ring cell adenocarcinoma colonic signet Ring cell adenocarcinoma Colonic Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma colonic signet Ring cell adenocarcinoma NCIT:C7967 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym signet Ring cell adenocarcinoma of colon signet Ring cell adenocarcinoma of colon Signet Ring Cell Adenocarcinoma of Colon NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma signet Ring cell adenocarcinoma of colon NCIT:C7967 @@ -24465,7 +24144,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis gingivitis Gingivitis N MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym adenocarcinoma, papillary, malignant adenocarcinoma, papillary, malignant ADENOCARCINOMA, PAPILLARY, MALIGNANT NCIT:C2853 Papillary Adenocarcinoma adenocarcinoma, papillary, malignant NCIT:C2853 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C2853 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary Adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C2853 -MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C5472 Gastric Papillary Adenocarcinoma papillary adenocarcinoma NCIT:C5472 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney neoplasm benign kidney neoplasm Benign Kidney Neoplasm NCIT:C4778 Benign Kidney Neoplasm benign kidney neoplasm NCIT:C4778 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney tumor benign kidney tumor Benign Kidney Tumor NCIT:C4778 Benign Kidney Neoplasm benign kidney tumor NCIT:C4778 MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign neoplasm of kidney benign neoplasm of kidney Benign Neoplasm of Kidney NCIT:C4778 Benign Kidney Neoplasm benign neoplasm of kidney NCIT:C4778 @@ -24510,8 +24188,8 @@ MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym giant cell tumo MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell neoplasm tendon sheath giant cell neoplasm Tendon Sheath Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor tendon sheath giant cell neoplasm NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell tumor tendon sheath giant cell tumor Tendon Sheath Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tendon sheath giant cell tumor NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell neoplasm tenosynovial giant cell neoplasm Tenosynovial Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell neoplasm NCIT:C3402 -MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 +MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor NCIT:C3402 MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of synovium neoplasm of synovium Neoplasm of Synovium NCIT:C8964 Synovial Neoplasm neoplasm of synovium NCIT:C8964 MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of the synovium neoplasm of the synovium Neoplasm of the Synovium NCIT:C8964 Synovial Neoplasm neoplasm of the synovium NCIT:C8964 MONDO:0002528 synovium neoplasm oio:hasExactSynonym synovial neoplasm synovial neoplasm Synovial Neoplasm NCIT:C8964 Synovial Neoplasm synovial neoplasm NCIT:C8964 @@ -24569,8 +24247,8 @@ MONDO:0002546 schwannoma oio:hasExactSynonym benign schwannoma benign schwannom MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma neurilemmoma Neurilemmoma NCIT:C3269 Schwannoma neurilemmoma NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma neurinoma NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma schwannoma Schwannoma NCIT:C3269 Schwannoma schwannoma NCIT:C3269 -MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (WHO Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 +MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma schwannoma (WHO grade I) NCIT:C3269 MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma, benign schwannoma, benign SCHWANNOMA, BENIGN NCIT:C3269 Schwannoma schwannoma, benign NCIT:C3269 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of nerve sheath neoplasm of nerve sheath Neoplasm of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm neoplasm of nerve sheath NCIT:C4972 MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath Neoplasm of the Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm neoplasm of the nerve sheath NCIT:C4972 @@ -24579,8 +24257,8 @@ MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumor nerv MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym tumor of nerve sheath tumor of nerve sheath Tumor of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm tumor of nerve sheath NCIT:C4972 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurilemmoma cellular neurilemmoma Cellular Neurilemmoma NCIT:C4724 Cellular Schwannoma cellular neurilemmoma NCIT:C4724 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurinoma cellular neurinoma Cellular Neurinoma NCIT:C4724 Cellular Schwannoma cellular neurinoma NCIT:C4724 -MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 +MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma cellular schwannoma NCIT:C4724 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve neurilemmoma hypoglossal nerve neurilemmoma Hypoglossal Nerve Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal nerve neurilemmoma NCIT:C5434 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve schwannoma hypoglossal nerve schwannoma Hypoglossal Nerve Schwannoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal nerve schwannoma NCIT:C5434 MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal neurilemmoma hypoglossal neurilemmoma Hypoglossal Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve hypoglossal neurilemmoma NCIT:C5434 @@ -24651,8 +24329,8 @@ MONDO:0002556 microcystic/reticular schwannoma oio:hasExactSynonym microcystic/ MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic neurilemmoma melanocytic neurilemmoma Melanocytic Neurilemmoma NCIT:C6970 Melanotic Schwannoma melanocytic neurilemmoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic schwannoma melanocytic schwannoma Melanocytic Schwannoma NCIT:C6970 Melanotic Schwannoma melanocytic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic neurinoma melanotic neurinoma Melanotic Neurinoma NCIT:C6970 Melanotic Schwannoma melanotic neurinoma NCIT:C6970 -MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic Schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 +MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma melanotic schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented neurilemmoma pigmented neurilemmoma Pigmented Neurilemmoma NCIT:C6970 Melanotic Schwannoma pigmented neurilemmoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented schwannoma NCIT:C6970 Melanotic Schwannoma pigmented schwannoma NCIT:C6970 MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented Schwannoma NCIT:C6970 Melanotic Schwannoma pigmented schwannoma NCIT:C6970 @@ -24693,9 +24371,8 @@ MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma oio:hasExactSyno MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma Extrahepatic Bile Duct Rhabdomyosarcoma NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma NCIT:C5860 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of extrahepatic bile duct rhabdomyosarcoma of extrahepatic bile duct Rhabdomyosarcoma of Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma rhabdomyosarcoma of extrahepatic bile duct NCIT:C5860 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of the extrahepatic bile duct rhabdomyosarcoma of the extrahepatic bile duct Rhabdomyosarcoma of the Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma rhabdomyosarcoma of the extrahepatic bile duct NCIT:C5860 -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 +MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid sarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma Botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma sarcoma botryoides NCIT:C9150 MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma sarcoma botryoides NCIT:C9150 @@ -24737,11 +24414,10 @@ MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym malignant thymoma, MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym thymoma malignant invasive thymoma malignant invasive Thymoma Malignant Invasive NCIT:C7904 Invasive Malignant Thymoma thymoma malignant invasive NCIT:C7904 MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal neoplasm notochordal neoplasm Notochordal Neoplasm NCIT:C7063 Notochordal Tumor notochordal neoplasm NCIT:C7063 MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal tumor notochordal tumor Notochordal Tumor NCIT:C7063 Notochordal Tumor notochordal tumor NCIT:C7063 -MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed embryonal carcinoma and teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 +MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma mixed embryonal carcinoma and teratoma NCIT:C3756 MONDO:0002599 teratocarcinoma oio:hasExactSynonym teratocarcinoma teratocarcinoma Teratocarcinoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma teratocarcinoma NCIT:C3756 MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma teratoma NCIT:C3403 -MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma teratoma NCIT:C9013 MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disease central nervous system disease Central Nervous System Disease NCIT:C2934 Central Nervous System Disorder central nervous system disease NCIT:C2934 MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disorder central nervous system disorder Central Nervous System Disorder NCIT:C2934 Central Nervous System Disorder central nervous system disorder NCIT:C2934 MONDO:0002602 central nervous system disorder oio:hasExactSynonym disorder of central nervous system disorder of central nervous system Disorder of Central Nervous System NCIT:C2934 Central Nervous System Disorder disorder of central nervous system NCIT:C2934 @@ -24776,7 +24452,6 @@ MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym fibrosarcoma of the bone fi MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteogenic sarcoma localized osteogenic sarcoma Localized Osteogenic Sarcoma NCIT:C7780 Localized Osteosarcoma localized osteogenic sarcoma NCIT:C7780 MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteosarcoma localized osteosarcoma Localized Osteosarcoma NCIT:C7780 Localized Osteosarcoma localized osteosarcoma NCIT:C7780 MONDO:0002620 localized osteosarcoma oio:hasExactSynonym osteosarcoma, localized osteosarcoma, localized Osteosarcoma, Localized NCIT:C7780 Localized Osteosarcoma osteosarcoma, localized NCIT:C7780 -MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma extraskeletal osteosarcoma NCIT:C7925 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraosseous osteosarcoma extraosseous osteosarcoma Extraosseous Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraosseous osteosarcoma NCIT:C8810 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteogenic sarcoma extraskeletal osteogenic sarcoma Extraskeletal Osteogenic Sarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraskeletal osteogenic sarcoma NCIT:C8810 MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma extraskeletal osteosarcoma NCIT:C8810 @@ -24817,8 +24492,8 @@ MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of spin MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the eleventh cranial nerve tumor of the eleventh cranial nerve Tumor of the Eleventh Cranial Nerve NCIT:C5829 Accessory Nerve Neoplasm tumor of the eleventh cranial nerve NCIT:C5829 MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the spinal accessory nerve tumor of the spinal accessory nerve Tumor of the Spinal Accessory Nerve NCIT:C5829 Accessory Nerve Neoplasm tumor of the spinal accessory nerve NCIT:C5829 MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteogenic sarcoma chondroblastic osteogenic sarcoma Chondroblastic Osteogenic Sarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteogenic sarcoma NCIT:C4021 -MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 +MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma chondroblastic osteosarcoma NCIT:C4021 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym bone surface (peripheral) osteosarcoma bone surface (peripheral) osteosarcoma Bone Surface (Peripheral) Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma bone surface (peripheral) osteosarcoma NCIT:C7134 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym peripheral osteosarcoma peripheral osteosarcoma Peripheral Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma peripheral osteosarcoma NCIT:C7134 MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym surface osteosarcoma surface osteosarcoma Surface Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma surface osteosarcoma NCIT:C7134 @@ -24826,14 +24501,14 @@ MONDO:0002629 bone osteosarcoma oio:hasExactSynonym bone osteosarcoma bone oste MONDO:0002629 bone osteosarcoma oio:hasExactSynonym osteosarcoma of bone osteosarcoma of bone Osteosarcoma of Bone NCIT:C53707 Bone Osteosarcoma osteosarcoma of bone NCIT:C53707 MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small Cell Osteosarcoma NCIT:C4023 Small Cell Osteosarcoma small cell osteosarcoma NCIT:C4023 MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small cell osteosarcoma NCIT:C4023 Small Cell Osteosarcoma small cell osteosarcoma NCIT:C4023 -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional central osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional central osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional osteosarcoma conventional osteosarcoma Conventional Osteosarcoma NCIT:C35870 Conventional Osteosarcoma conventional osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteogenic sarcoma intracortical osteogenic sarcoma Intracortical Osteogenic Sarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteogenic sarcoma NCIT:C35870 -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical Osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma intracortical osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary Osteosarcoma NCIT:C35870 Conventional Osteosarcoma medullary osteosarcoma NCIT:C35870 MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary osteosarcoma NCIT:C35870 Conventional Osteosarcoma medullary osteosarcoma NCIT:C35870 MONDO:0002632 metachronous osteosarcoma of the bone oio:hasExactSynonym metachronous osteosarcoma metachronous osteosarcoma Metachronous Osteosarcoma NCIT:C38157 Metachronous Osteosarcoma metachronous osteosarcoma NCIT:C38157 @@ -24919,7 +24594,6 @@ MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of brea MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of the breast Paget's disease of the breast Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease Paget's disease of the breast NCIT:C47857 MONDO:0002648 mammary Paget disease oio:hasExactSynonym breast Paget disease breast Paget disease Breast Paget Disease NCIT:C47857 Breast Paget Disease breast Paget disease NCIT:C47857 MONDO:0002648 mammary Paget disease oio:hasExactSynonym mammary Paget's disease mammary Paget's disease Mammary Paget's Disease NCIT:C47857 Breast Paget Disease mammary Paget's disease NCIT:C47857 -MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease Paget cell neoplasm NCIT:C7073 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget disease of the scrotum Paget disease of the scrotum Paget Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease Paget disease of the scrotum NCIT:C7728 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of scrotum Paget's disease of scrotum Paget's Disease of Scrotum NCIT:C7728 Scrotal Paget Disease Paget's disease of scrotum NCIT:C7728 MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of the scrotum Paget's disease of the scrotum Paget's Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease Paget's disease of the scrotum NCIT:C7728 @@ -24943,8 +24617,8 @@ MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of skin carcinoma of MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of the skin carcinoma of the skin Carcinoma of the Skin NCIT:C4914 Skin Carcinoma carcinoma of the skin NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of skin non-melanoma cancer of skin Non-Melanoma Cancer of Skin NCIT:C4914 Skin Carcinoma non-melanoma cancer of skin NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of the skin non-melanoma cancer of the skin Non-Melanoma Cancer of the Skin NCIT:C4914 Skin Carcinoma non-melanoma cancer of the skin NCIT:C4914 -MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 +MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma non-melanoma skin cancer NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym skin cancer, non-melanoma skin cancer, non-melanoma Skin Cancer, Non-Melanoma NCIT:C4914 Skin Carcinoma skin cancer, non-melanoma NCIT:C4914 MONDO:0002656 skin carcinoma oio:hasExactSynonym skin carcinoma skin carcinoma Skin Carcinoma NCIT:C4914 Skin Carcinoma skin carcinoma NCIT:C4914 MONDO:0002657 breast disorder oio:hasExactSynonym breast disease breast disease Breast Disease NCIT:C26709 Breast Disorder breast disease NCIT:C26709 @@ -25010,7 +24684,6 @@ MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym classical fibrosarc MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma conventional fibrosarcoma Conventional Fibrosarcoma NCIT:C9429 Conventional Fibrosarcoma conventional fibrosarcoma NCIT:C9429 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma childhood fibrosarcoma Childhood Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma childhood fibrosarcoma NCIT:C8088 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma pediatric fibrosarcoma Pediatric Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma pediatric fibrosarcoma NCIT:C8088 -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke cerebral infarction NCIT:C3390 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction cerebral infarction NCIT:C50486 MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia cerebral ischemia Cerebral Ischemia NCIT:C50486 Cerebral Infarction cerebral ischemia NCIT:C50486 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant choroid plexus neoplasm malignant choroid plexus neoplasm Malignant Choroid Plexus Neoplasm NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant choroid plexus neoplasm NCIT:C4533 @@ -25021,8 +24694,6 @@ MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of c MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant neoplasm of the choroid plexus NCIT:C4533 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant tumor of choroid plexus NCIT:C4533 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of the choroid plexus malignant tumor of the choroid plexus Malignant Tumor of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm malignant tumor of the choroid plexus NCIT:C4533 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma cancer of choroid plexus NCIT:C4715 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma choroid plexus cancer NCIT:C4715 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym brain neoplasms, intraventricular brain neoplasms, intraventricular Brain Neoplasms, Intraventricular NCIT:C2937 Intraventricular Brain Neoplasm brain neoplasms, intraventricular NCIT:C2937 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasm intraventricular brain neoplasm Intraventricular Brain Neoplasm NCIT:C2937 Intraventricular Brain Neoplasm intraventricular brain neoplasm NCIT:C2937 MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasms intraventricular brain neoplasms Intraventricular Brain Neoplasms NCIT:C2937 Intraventricular Brain Neoplasm intraventricular brain neoplasms NCIT:C2937 @@ -25044,8 +24715,6 @@ MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym childhood MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym superior mesenteric artery syndrome superior mesenteric artery syndrome Superior Mesenteric Artery Syndrome NCIT:C85175 Superior Mesenteric Artery Syndrome superior mesenteric artery syndrome NCIT:C85175 MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant liver neoplasm primary malignant liver neoplasm Primary Malignant Liver Neoplasm NCIT:C34803 Primary Malignant Liver Neoplasm primary malignant liver neoplasm NCIT:C34803 MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant neoplasm of liver primary malignant neoplasm of liver Primary Malignant Neoplasm of Liver NCIT:C34803 Primary Malignant Liver Neoplasm primary malignant neoplasm of liver NCIT:C34803 -MONDO:0002691 liver cancer oio:hasExactSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma cancer of liver NCIT:C7927 -MONDO:0002691 liver cancer oio:hasExactSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma liver cancer NCIT:C7927 MONDO:0002696 Sertoli cell tumor oio:hasExactSynonym Sertoli cell tumor Sertoli cell tumor Sertoli Cell Tumor NCIT:C39976 Sertoli Cell Tumor Sertoli cell tumor NCIT:C39976 MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym ovarian gonadoblastoma ovarian gonadoblastoma Ovarian Gonadoblastoma NCIT:C39985 Ovarian Gonadoblastoma ovarian gonadoblastoma NCIT:C39985 MONDO:0002698 testicular gonadoblastoma oio:hasExactSynonym testicular gonadoblastoma testicular gonadoblastoma Testicular Gonadoblastoma NCIT:C39911 Testicular Gonadoblastoma testicular gonadoblastoma NCIT:C39911 @@ -25152,7 +24821,6 @@ MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of C MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of central nervous system teratoma of central nervous system Teratoma of Central Nervous System NCIT:C5441 Central Nervous System Teratoma teratoma of central nervous system NCIT:C5441 MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the CNS teratoma of the CNS Teratoma of the CNS NCIT:C5441 Central Nervous System Teratoma teratoma of the CNS NCIT:C5441 MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the central nervous system teratoma of the central nervous system Teratoma of the Central Nervous System NCIT:C5441 Central Nervous System Teratoma teratoma of the central nervous system NCIT:C5441 -MONDO:0002718 central nervous system teratoma oio:hasExactSynonym central nervous system teratoma central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma central nervous system teratoma NCIT:C5794 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris neoplasm conus medullaris neoplasm Conus Medullaris Neoplasm NCIT:C5443 Conus Medullaris Neoplasm conus medullaris neoplasm NCIT:C5443 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris tumor conus medullaris tumor Conus Medullaris Tumor NCIT:C5443 Conus Medullaris Neoplasm conus medullaris tumor NCIT:C5443 MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym neoplasm of conus medullaris neoplasm of conus medullaris Neoplasm of Conus Medullaris NCIT:C5443 Conus Medullaris Neoplasm neoplasm of conus medullaris NCIT:C5443 @@ -25202,8 +24870,8 @@ MONDO:0002726 cutaneous solitary mastocytoma oio:hasExactSynonym solitary masto MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of 1st nerve disorder of 1st nerve Disorder of 1st Nerve NCIT:C27210 Olfactory Nerve Disorder disorder of 1st nerve NCIT:C27210 MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of the 1st nerve disorder of the 1st nerve Disorder of the 1st Nerve NCIT:C27210 Olfactory Nerve Disorder disorder of the 1st nerve NCIT:C27210 MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym olfactory nerve disorder olfactory nerve disorder Olfactory Nerve Disorder NCIT:C27210 Olfactory Nerve Disorder olfactory nerve disorder NCIT:C27210 -MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 +MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor rhabdoid sarcoma NCIT:C3808 MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid tumor rhabdoid tumor Rhabdoid Tumor NCIT:C3808 Rhabdoid Tumor rhabdoid tumor NCIT:C3808 MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym kidney rhabdoid tumor kidney rhabdoid tumor Kidney Rhabdoid Tumor NCIT:C8715 Rhabdoid Tumor of the Kidney kidney rhabdoid tumor NCIT:C8715 MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym malignant rhabdoid tumor of kidney malignant rhabdoid tumor of kidney Malignant Rhabdoid Tumor of Kidney NCIT:C8715 Rhabdoid Tumor of the Kidney malignant rhabdoid tumor of kidney NCIT:C8715 @@ -25317,8 +24985,8 @@ MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of ovar MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of the ovary adenocarcinoma of the ovary Adenocarcinoma of the Ovary NCIT:C7700 Ovarian Adenocarcinoma adenocarcinoma of the ovary NCIT:C7700 MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym ovarian adenocarcinoma ovarian adenocarcinoma Ovarian Adenocarcinoma NCIT:C7700 Ovarian Adenocarcinoma ovarian adenocarcinoma NCIT:C7700 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma extramedullary plasmacytoma Extramedullary Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extramedullary plasmacytoma NCIT:C4002 -MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 +MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma extraosseous plasmacytoma NCIT:C4002 MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym plasmacytoma, extramedullary plasmacytoma, extramedullary Plasmacytoma, extramedullary NCIT:C4002 Extraosseous Plasmacytoma plasmacytoma, extramedullary NCIT:C4002 MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym solitary plasmacytoma of bone solitary plasmacytoma of bone Solitary Plasmacytoma of Bone NCIT:C7812 Solitary Plasmacytoma of Bone solitary plasmacytoma of bone NCIT:C7812 MONDO:0002756 solitary plasmacytoma of chest wall oio:hasExactSynonym chest wall solitary plasmacytoma chest wall solitary plasmacytoma Chest Wall Solitary Plasmacytoma NCIT:C6711 Chest Wall Solitary Plasmacytoma chest wall solitary plasmacytoma NCIT:C6711 @@ -25365,7 +25033,6 @@ MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym laryngeal verrucou MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym larynx verrucous carcinoma larynx verrucous carcinoma Larynx Verrucous Carcinoma NCIT:C8188 Laryngeal Verrucous Carcinoma larynx verrucous carcinoma NCIT:C8188 MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of larynx verrucous carcinoma of larynx Verrucous Carcinoma of Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma verrucous carcinoma of larynx NCIT:C8188 MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of the larynx verrucous carcinoma of the larynx Verrucous Carcinoma of the Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma verrucous carcinoma of the larynx NCIT:C8188 -MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development true hermaphroditism NCIT:C127167 MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism true hermaphroditism NCIT:C85207 MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary Interstitial Fibrosis NCIT:C26869 Pulmonary Fibrosis pulmonary interstitial fibrosis NCIT:C26869 MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary interstitial fibrosis NCIT:C26869 Pulmonary Fibrosis pulmonary interstitial fibrosis NCIT:C26869 @@ -25409,8 +25076,8 @@ MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary neoplas MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary tumor of Rathke's pouch papillary tumor of Rathke's pouch Papillary Tumor of Rathke's Pouch NCIT:C4725 Papillary Craniopharyngioma papillary tumor of Rathke's pouch NCIT:C4725 MONDO:0002789 hemangiopericytic tumor oio:hasExactSynonym hemangiopericytic neoplasm hemangiopericytic neoplasm Hemangiopericytic Neoplasm NCIT:C7076 Hemangiopericytic Neoplasm hemangiopericytic neoplasm NCIT:C7076 MONDO:0002790 seminal vesicle tumor oio:hasExactSynonym seminal vesicle neoplasm seminal vesicle neoplasm Seminal Vesicle Neoplasm NCIT:C39908 Seminal Vesicle Neoplasm seminal vesicle neoplasm NCIT:C39908 -MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large Cell Medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 +MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma large cell medulloblastoma NCIT:C6904 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym cerebellar vermis medulloblastoma cerebellar vermis medulloblastoma Cerebellar Vermis Medulloblastoma NCIT:C5401 Cerebellar Vermis Medulloblastoma cerebellar vermis medulloblastoma NCIT:C5401 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of cerebellar vermis medulloblastoma of cerebellar vermis Medulloblastoma of Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma medulloblastoma of cerebellar vermis NCIT:C5401 MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of the cerebellar vermis medulloblastoma of the cerebellar vermis Medulloblastoma of the Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma medulloblastoma of the cerebellar vermis NCIT:C5401 @@ -25429,7 +25096,6 @@ MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medullobl MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medulloblastoma melanotic medulloblastoma Melanotic Medulloblastoma NCIT:C9497 Melanocytic Medulloblastoma melanotic medulloblastoma NCIT:C9497 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym childhood medulloblastoma childhood medulloblastoma Childhood Medulloblastoma NCIT:C3997 Childhood Medulloblastoma childhood medulloblastoma NCIT:C3997 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym pediatric medulloblastoma pediatric medulloblastoma Pediatric Medulloblastoma NCIT:C3997 Childhood Medulloblastoma pediatric medulloblastoma NCIT:C3997 -MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Central nervous system embryonal tumor, NOS NCIT:C5398 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified Central nervous system embryonal tumor, NOS NCIT:C5961 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS PNET childhood CNS PNET Childhood CNS PNET NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified childhood CNS PNET NCIT:C5961 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS primitive neuroectodermal neoplasm childhood CNS primitive neuroectodermal neoplasm Childhood CNS Primitive Neuroectodermal Neoplasm NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified childhood CNS primitive neuroectodermal neoplasm NCIT:C5961 @@ -25587,8 +25253,8 @@ MONDO:0002869 heart valve disorder oio:hasExactSynonym valvular heart disorder MONDO:0002870 tricuspid valve insufficiency oio:hasExactSynonym tricuspid insufficiency tricuspid insufficiency Tricuspid Insufficiency NCIT:C50842 Tricuspid Valve Insufficiency tricuspid insufficiency NCIT:C50842 MONDO:0002871 testicular trophoblastic tumor oio:hasExactSynonym testicular trophoblastic tumor testicular trophoblastic tumor Testicular Trophoblastic Tumor NCIT:C39934 Testicular Trophoblastic Tumor testicular trophoblastic tumor NCIT:C39934 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasm trophoblastic neoplasm Trophoblastic Neoplasm NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasm NCIT:C3422 -MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic Neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 +MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor trophoblastic neoplasms NCIT:C3422 MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic tumor trophoblastic tumor Trophoblastic Tumor NCIT:C3422 Trophoblastic Tumor trophoblastic tumor NCIT:C3422 MONDO:0002874 testicular pure germ cell tumor oio:hasExactSynonym testicular Pure germ cell tumor testicular Pure germ cell tumor Testicular Pure Germ Cell Tumor NCIT:C39915 Testicular Pure Germ Cell Tumor testicular Pure germ cell tumor NCIT:C39915 MONDO:0002876 cervical adenosarcoma oio:hasExactSynonym cervical Mullerian adenosarcoma cervical Mullerian adenosarcoma Cervical Mullerian Adenosarcoma NCIT:C40229 Cervical Adenosarcoma cervical Mullerian adenosarcoma NCIT:C40229 @@ -25641,7 +25307,6 @@ MONDO:0002880 ovarian adenosarcoma oio:hasExactSynonym ovarian mullerian adenos MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Mullerian adenosarcoma vaginal Mullerian adenosarcoma Vaginal Mullerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal Mullerian adenosarcoma NCIT:C40277 MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Müllerian adenosarcoma vaginal Müllerian adenosarcoma Vaginal Müllerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal Müllerian adenosarcoma NCIT:C40277 MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal adenosarcoma vaginal adenosarcoma Vaginal Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma vaginal adenosarcoma NCIT:C40277 -MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor colon neuroendocrine tumor NCIT:C135212 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine neoplasm colon neuroendocrine neoplasm Colon Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm colon neuroendocrine neoplasm NCIT:C5697 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colonic neuroendocrine neoplasm colonic neuroendocrine neoplasm Colonic Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm colonic neuroendocrine neoplasm NCIT:C5697 MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of colon neuroendocrine neoplasm of colon Neuroendocrine Neoplasm of Colon NCIT:C5697 Colon Neuroendocrine Neoplasm neuroendocrine neoplasm of colon NCIT:C5697 @@ -25701,8 +25366,6 @@ MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brain stem glioma MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brainstem glioma of brainstem Glioma of Brainstem NCIT:C8501 Brain Stem Glioma glioma of brainstem NCIT:C8501 MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brain stem glioma of the brain stem Glioma of the Brain Stem NCIT:C8501 Brain Stem Glioma glioma of the brain stem NCIT:C8501 MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brainstem glioma of the brainstem Glioma of the Brainstem NCIT:C8501 Brain Stem Glioma glioma of the brainstem NCIT:C8501 -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma brain stem glioma NCIT:C9042 -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma brain stem glioma NCIT:C9091 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brain stem malignant neoplasm of brain stem Malignant Neoplasm of Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of brain stem NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brainstem malignant neoplasm of brainstem Malignant Neoplasm of Brainstem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of brainstem NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of the brain stem malignant neoplasm of the brain stem Malignant Neoplasm of the Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm malignant neoplasm of the brain stem NCIT:C3570 @@ -25717,7 +25380,6 @@ MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of cerebellum ne MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of the cerebellum neoplasm of the cerebellum Neoplasm of the Cerebellum NCIT:C2935 Cerebellar Neoplasm neoplasm of the cerebellum NCIT:C2935 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of cerebellum tumor of cerebellum Tumor of Cerebellum NCIT:C2935 Cerebellar Neoplasm tumor of cerebellum NCIT:C2935 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of the cerebellum tumor of the cerebellum Tumor of the Cerebellum NCIT:C2935 Cerebellar Neoplasm tumor of the cerebellum NCIT:C2935 -MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C4869 Brain Stem Neoplasm brain stem neoplasm NCIT:C4869 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm brain stem neoplasm NCIT:C5969 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem neoplasm childhood brain stem neoplasm Childhood Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm childhood brain stem neoplasm NCIT:C5969 MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem tumor childhood brain stem tumor Childhood Brain Stem Tumor NCIT:C5969 Childhood Brain Stem Neoplasm childhood brain stem tumor NCIT:C5969 @@ -25753,8 +25415,8 @@ MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynon MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of brainstem intraparenchymal clear cell meningioma of brainstem Intraparenchymal Clear Cell Meningioma of Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma intraparenchymal clear cell meningioma of brainstem NCIT:C5295 MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of the brainstem intraparenchymal clear cell meningioma of the brainstem Intraparenchymal Clear Cell Meningioma of the Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma intraparenchymal clear cell meningioma of the brainstem NCIT:C5295 MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym hair disorder hair disorder Hair Disorder NCIT:C34656 Hair Disorder hair disorder NCIT:C34656 -MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear Cell Meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 +MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma clear cell meningioma NCIT:C4722 MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of posterior cranial fossa meningioma of posterior cranial fossa Meningioma of Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma meningioma of posterior cranial fossa NCIT:C6775 MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of the posterior cranial fossa meningioma of the posterior cranial fossa Meningioma of the Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma meningioma of the posterior cranial fossa NCIT:C6775 MONDO:0002920 malignant ovarian Brenner tumor oio:hasExactSynonym malignant Brenner tumor of ovary malignant Brenner tumor of ovary Malignant Brenner Tumor of Ovary NCIT:C4270 Malignant Ovarian Brenner Tumor malignant Brenner tumor of ovary NCIT:C4270 @@ -25791,11 +25453,11 @@ MONDO:0002935 penis basal cell carcinoma oio:hasExactSynonym penile basal cell MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal Cell Carcinoma of Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma basal cell carcinoma of scrotum NCIT:C6386 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym scrotal basal cell carcinoma scrotal basal cell carcinoma Scrotal Basal Cell Carcinoma NCIT:C6386 Scrotal Basal Cell Carcinoma scrotal basal cell carcinoma NCIT:C6386 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Nodulo-ulcerative basal cell carcinoma Nodulo-ulcerative basal cell carcinoma Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Nodulo-ulcerative basal cell carcinoma NCIT:C5568 -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 +MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma Rodent Ulcer NCIT:C5568 MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma Skin Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma skin nodulo-ulcerative basal cell carcinoma NCIT:C5568 -MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented basal cell carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 +MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma pigmented basal cell carcinoma NCIT:C9359 MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym skin pigmented basal cell carcinoma skin pigmented basal cell carcinoma Skin Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma skin pigmented basal cell carcinoma NCIT:C9359 MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym anal margin basal cell carcinoma anal margin basal cell carcinoma Anal Margin Basal Cell Carcinoma NCIT:C7473 Anal Margin Basal Cell Carcinoma anal margin basal cell carcinoma NCIT:C7473 MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of anal margin basal cell carcinoma of anal margin Basal Cell Carcinoma of Anal Margin NCIT:C7473 Anal Margin Basal Cell Carcinoma basal cell carcinoma of anal margin NCIT:C7473 @@ -25820,8 +25482,8 @@ MONDO:0002944 external ear carcinoma oio:hasExactSynonym external Ear carcinoma MONDO:0002944 external ear carcinoma oio:hasExactSynonym external ear carcinoma external ear carcinoma External Ear Carcinoma NCIT:C6081 External Ear Carcinoma external ear carcinoma NCIT:C6081 MONDO:0002945 micronodular basal cell carcinoma oio:hasExactSynonym skin micronodular basal cell carcinoma skin micronodular basal cell carcinoma Skin Micronodular Basal Cell Carcinoma NCIT:C27541 Skin Micronodular Basal Cell Carcinoma skin micronodular basal cell carcinoma NCIT:C27541 MONDO:0002947 adamantinoid basal cell epithelioma oio:hasExactSynonym skin adamantinoid basal cell carcinoma skin adamantinoid basal cell carcinoma Skin Adamantinoid Basal Cell Carcinoma NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma skin adamantinoid basal cell carcinoma NCIT:C7585 -MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 +MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma Pinkus tumor NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus fibroepithelioma of Pinkus Fibroepithelioma of Pinkus NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma fibroepithelioma of Pinkus NCIT:C4109 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus type fibroepithelioma of Pinkus type Fibroepithelioma of Pinkus type NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma fibroepithelioma of Pinkus type NCIT:C4109 MONDO:0002949 morpheaform basal cell carcinoma oio:hasExactSynonym basal cell carcinoma sclerosing type basal cell carcinoma sclerosing type Basal Cell Carcinoma Sclerosing Type NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma basal cell carcinoma sclerosing type NCIT:C27182 @@ -25866,12 +25528,9 @@ MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amela MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amelanotic melanoma Amelanotic melanoma NCIT:C3802 Amelanotic Melanoma amelanotic melanoma NCIT:C3802 MONDO:0002971 amelanotic melanoma oio:hasExactSynonym melanoma, amelanotic, malignant melanoma, amelanotic, malignant MELANOMA, AMELANOTIC, MALIGNANT NCIT:C3802 Amelanotic Melanoma melanoma, amelanotic, malignant NCIT:C3802 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell malignant melanoma epithelioid cell malignant melanoma Epithelioid Cell Malignant Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell malignant melanoma NCIT:C4236 -MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid cell melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 +MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid cell melanoma NCIT:C4236 MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid melanoma epithelioid melanoma Epithelioid Melanoma NCIT:C4236 Epithelioid Cell Melanoma epithelioid melanoma NCIT:C4236 -MONDO:0002974 cervical cancer oio:hasExactSynonym cancer of uterine cervix cancer of uterine cervix Cancer of Uterine Cervix NCIT:C9039 Cervical Carcinoma cancer of uterine cervix NCIT:C9039 -MONDO:0002974 cervical cancer oio:hasExactSynonym cervix cancer cervix cancer Cervix Cancer NCIT:C9039 Cervical Carcinoma cervix cancer NCIT:C9039 -MONDO:0002974 cervical cancer oio:hasExactSynonym uterine cervix cancer uterine cervix cancer Uterine Cervix Cancer NCIT:C9039 Cervical Carcinoma uterine cervix cancer NCIT:C9039 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical neoplasm malignant cervical neoplasm Malignant Cervical Neoplasm NCIT:C9311 Malignant Cervical Neoplasm malignant cervical neoplasm NCIT:C9311 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical tumor malignant cervical tumor Malignant Cervical Tumor NCIT:C9311 Malignant Cervical Neoplasm malignant cervical tumor NCIT:C9311 MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervix neoplasm malignant cervix neoplasm Malignant Cervix Neoplasm NCIT:C9311 Malignant Cervical Neoplasm malignant cervix neoplasm NCIT:C9311 @@ -25899,12 +25558,12 @@ MONDO:0002975 malignant breast melanoma oio:hasExactSynonym malignant melanoma MONDO:0002977 autoimmune disorder of the nervous system oio:hasExactSynonym autoimmune nervous system disorder autoimmune nervous system disorder Autoimmune Nervous System Disorder NCIT:C99383 Autoimmune Nervous System Disorder autoimmune nervous system disorder NCIT:C99383 MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of orbit alveolar rhabdomyosarcoma of orbit Alveolar Rhabdomyosarcoma of Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma of orbit NCIT:C6247 MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of the orbit alveolar rhabdomyosarcoma of the orbit Alveolar Rhabdomyosarcoma of the Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma of the orbit NCIT:C6247 -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary Epidermoid Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid cell carcinoma papillary epidermoid cell carcinoma Papillary Epidermoid Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary epidermoid cell carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous carcinoma papillary squamous carcinoma Papillary Squamous Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous carcinoma NCIT:C4102 -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary squamous cell carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma papillary squamous cell carcinoma NCIT:C4102 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym bone peripheral neuroepithelioma bone peripheral neuroepithelioma Bone Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone bone peripheral neuroepithelioma NCIT:C8776 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym osseous peripheral neuroepithelioma osseous peripheral neuroepithelioma Osseous Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone osseous peripheral neuroepithelioma NCIT:C8776 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym peripheral neuroectodermal tumor of bone peripheral neuroectodermal tumor of bone Peripheral Neuroectodermal Tumor of Bone NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone peripheral neuroectodermal tumor of bone NCIT:C8776 @@ -25921,8 +25580,8 @@ MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary Reticu MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary reticulohistiocytoma solitary reticulohistiocytoma Solitary Reticulohistiocytoma NCIT:C3356 Solitary Reticulohistiocytoma solitary reticulohistiocytoma NCIT:C3356 MONDO:0002988 cervix melanoma oio:hasExactSynonym cervical melanoma cervical melanoma Cervical Melanoma NCIT:C40239 Cervical Melanoma cervical melanoma NCIT:C40239 MONDO:0002988 cervix melanoma oio:hasExactSynonym melanoma of the cervix melanoma of the cervix Melanoma of the Cervix NCIT:C40239 Cervical Melanoma melanoma of the cervix NCIT:C40239 -MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 +MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma benign fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym fibrous histiocytoma fibrous histiocytoma Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma fibrous histiocytoma NCIT:C3739 MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym histiocytoma, fibrous, benign histiocytoma, fibrous, benign HISTIOCYTOMA, FIBROUS, BENIGN NCIT:C3739 Fibrous Histiocytoma histiocytoma, fibrous, benign NCIT:C3739 MONDO:0002990 benign deep fibrous histiocytoma oio:hasExactSynonym benign deep fibrous histiocytoma benign deep fibrous histiocytoma Benign Deep Fibrous Histiocytoma NCIT:C6492 Deep Fibrous Histiocytoma benign deep fibrous histiocytoma NCIT:C6492 @@ -25943,8 +25602,6 @@ MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma of the anterior fossa meningioma of the anterior fossa Meningioma of the Anterior Fossa NCIT:C5286 Anterior Cranial Fossa Meningioma meningioma of the anterior fossa NCIT:C5286 MONDO:0002998 skull base meningioma oio:hasExactSynonym meningioma of the skull base meningioma of the skull base Meningioma of the Skull Base NCIT:C5272 Skull Base Meningioma meningioma of the skull base NCIT:C5272 MONDO:0002998 skull base meningioma oio:hasExactSynonym skull base meningioma skull base meningioma Skull Base Meningioma NCIT:C5272 Skull Base Meningioma skull base meningioma NCIT:C5272 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma central nervous system germinoma NCIT:C27406 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma central nervous system germinoma NCIT:C5792 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma central nervous system germinoma NCIT:C7009 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of CNS germinoma of CNS Germinoma of CNS NCIT:C7009 Central Nervous System Germinoma germinoma of CNS NCIT:C7009 MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of central nervous system germinoma of central nervous system Germinoma of Central Nervous System NCIT:C7009 Central Nervous System Germinoma germinoma of central nervous system NCIT:C7009 @@ -25962,8 +25619,6 @@ MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ c MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of central nervous system germ cell tumor of central nervous system Germ Cell Tumor of Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of central nervous system NCIT:C5461 MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the CNS germ cell tumor of the CNS Germ Cell Tumor of the CNS NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of the CNS NCIT:C5461 MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the central nervous system germ cell tumor of the central nervous system Germ Cell Tumor of the Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor germ cell tumor of the central nervous system NCIT:C5461 -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor central nervous system germ cell tumor NCIT:C6205 -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor central nervous system germ cell tumor NCIT:C6285 MONDO:0003001 seminoma oio:hasExactSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma seminoma NCIT:C9309 MONDO:0003001 seminoma oio:hasExactSynonym seminoma, malignant seminoma, malignant SEMINOMA, MALIGNANT NCIT:C9309 Seminoma seminoma, malignant NCIT:C9309 MONDO:0003001 seminoma oio:hasExactSynonym seminoma, pure seminoma, pure Seminoma, Pure NCIT:C9309 Seminoma seminoma, pure NCIT:C9309 @@ -26111,12 +25766,12 @@ MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningio MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningioma, benign MENINGIOMA, BENIGN NCIT:C4055 Benign Meningioma meningioma, benign NCIT:C4055 MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory Meningioma NCIT:C4718 Secretory Meningioma secretory meningioma NCIT:C4718 MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory meningioma NCIT:C4718 Secretory Meningioma secretory meningioma NCIT:C4718 -MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich Meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 +MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma lymphoplasmacyte-rich meningioma NCIT:C4720 MONDO:0003057 pediatric meningioma oio:hasExactSynonym childhood meningioma childhood meningioma Childhood Meningioma NCIT:C8264 Childhood Meningioma childhood meningioma NCIT:C8264 MONDO:0003057 pediatric meningioma oio:hasExactSynonym pediatric meningioma pediatric meningioma Pediatric Meningioma NCIT:C8264 Childhood Meningioma pediatric meningioma NCIT:C8264 -MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic Meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 +MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma microcystic meningioma NCIT:C4721 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle neoplasm benign muscle neoplasm Benign Muscle Neoplasm NCIT:C4882 Benign Muscle Neoplasm benign muscle neoplasm NCIT:C4882 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle tumor benign muscle tumor Benign Muscle Tumor NCIT:C4882 Benign Muscle Neoplasm benign muscle tumor NCIT:C4882 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign neoplasm of muscle benign neoplasm of muscle Benign Neoplasm of Muscle NCIT:C4882 Benign Muscle Neoplasm benign neoplasm of muscle NCIT:C4882 @@ -26155,10 +25810,8 @@ MONDO:0003072 retinal cancer oio:hasExactSynonym malignant retinal tumor malign MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of retina malignant tumor of retina Malignant Tumor of Retina NCIT:C3216 Malignant Retinal Neoplasm malignant tumor of retina NCIT:C3216 MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of the retina malignant tumor of the retina Malignant Tumor of the Retina NCIT:C3216 Malignant Retinal Neoplasm malignant tumor of the retina NCIT:C3216 MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma intraocular retinoblastoma NCIT:C7846 -MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma intraocular retinoblastoma NCIT:C9047 MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma extraocular retinoblastoma NCIT:C7848 MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym metastatic retinoblastoma metastatic retinoblastoma Metastatic Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma metastatic retinoblastoma NCIT:C7848 -MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma extraocular retinoblastoma NCIT:C9048 MONDO:0003079 mastocytoma oio:hasExactSynonym mastocytoma mastocytoma Mastocytoma NCIT:C9303 Mastocytoma mastocytoma NCIT:C9303 MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous angioma Venous angioma Venous Angioma NCIT:C4296 Venous Hemangioma Venous angioma NCIT:C4296 MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous malformation Venous malformation Venous Malformation NCIT:C4296 Venous Hemangioma Venous malformation NCIT:C4296 @@ -26368,7 +26021,6 @@ MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym neoplasm of the Cauda e MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of Cauda equina tumor of Cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of Cauda equina NCIT:C5479 MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of cauda equina tumor of cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of cauda equina NCIT:C5479 MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of the Cauda equina tumor of the Cauda equina Tumor of the Cauda Equina NCIT:C5479 Cauda Equina Neoplasm tumor of the Cauda equina NCIT:C5479 -MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma cerebellar astrocytoma NCIT:C6286 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of cerebellum astrocytoma of cerebellum Astrocytoma of Cerebellum NCIT:C9475 Cerebellar Astrocytoma astrocytoma of cerebellum NCIT:C9475 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of the cerebellum astrocytoma of the cerebellum Astrocytoma of the Cerebellum NCIT:C9475 Cerebellar Astrocytoma astrocytoma of the cerebellum NCIT:C9475 MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma, cerebellar astrocytoma, cerebellar Astrocytoma, Cerebellar NCIT:C9475 Cerebellar Astrocytoma astrocytoma, cerebellar NCIT:C9475 @@ -26443,15 +26095,15 @@ MONDO:0003190 middle ear carcinoma oio:hasExactSynonym carcinoma of the middle MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle Ear carcinoma middle Ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma middle Ear carcinoma NCIT:C6089 MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle ear carcinoma middle ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma middle ear carcinoma NCIT:C6089 MONDO:0003191 rete ovarii adenocarcinoma oio:hasExactSynonym rete ovarii adenocarcinoma rete ovarii adenocarcinoma Rete Ovarii Adenocarcinoma NCIT:C40017 Rete Ovarii Adenocarcinoma rete ovarii adenocarcinoma NCIT:C40017 -MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile duct adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 +MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma bile duct adenocarcinoma NCIT:C27813 MONDO:0003196 appendix carcinoma oio:hasExactSynonym appendix carcinoma appendix carcinoma Appendix Carcinoma NCIT:C9330 Appendix Carcinoma appendix carcinoma NCIT:C9330 MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of appendix carcinoma of appendix Carcinoma of Appendix NCIT:C9330 Appendix Carcinoma carcinoma of appendix NCIT:C9330 MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of the appendix carcinoma of the appendix Carcinoma of the Appendix NCIT:C9330 Appendix Carcinoma carcinoma of the appendix NCIT:C9330 -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular cell adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma granular cell adenocarcinoma NCIT:C3681 MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular cell carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma granular cell carcinoma NCIT:C3681 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small bowel adenocarcinoma of small bowel Adenocarcinoma of Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of small bowel NCIT:C7888 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine Adenocarcinoma of Small Intestine NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of small intestine NCIT:C7888 MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of the small bowel adenocarcinoma of the small bowel Adenocarcinoma of the Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma adenocarcinoma of the small bowel NCIT:C7888 @@ -26468,8 +26120,8 @@ MONDO:0003200 urethra adenocarcinoma oio:hasExactSynonym urethral adenocarcinom MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil adenocarcinoma basophil adenocarcinoma Basophil Adenocarcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma basophil adenocarcinoma NCIT:C27392 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil carcinoma basophil carcinoma Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma basophil carcinoma NCIT:C27392 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym pituitary gland basophil carcinoma pituitary gland basophil carcinoma Pituitary Gland Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma pituitary gland basophil carcinoma NCIT:C27392 -MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous Adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 +MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma villous adenocarcinoma NCIT:C4142 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney pelvis adenocarcinoma of kidney pelvis Adenocarcinoma of Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of kidney pelvis NCIT:C6143 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of renal pelvis adenocarcinoma of renal pelvis Adenocarcinoma of Renal Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of renal pelvis NCIT:C6143 MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney pelvis adenocarcinoma of the kidney pelvis Adenocarcinoma of the Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma adenocarcinoma of the kidney pelvis NCIT:C6143 @@ -26491,8 +26143,8 @@ MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory carcinoma of the breast juvenile secretory carcinoma of the breast Juvenile Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma juvenile secretory carcinoma of the breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory breast carcinoma secretory breast carcinoma Secretory Breast Carcinoma NCIT:C4189 Breast Secretory Carcinoma secretory breast carcinoma NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma secretory carcinoma Secretory Carcinoma NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma NCIT:C4189 -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory carcinoma of breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 +MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of breast NCIT:C4189 MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of the breast secretory carcinoma of the breast Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma secretory carcinoma of the breast NCIT:C4189 MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym Thymus adenocarcinoma Thymus adenocarcinoma Thymus Adenocarcinoma NCIT:C6459 Thymic Adenocarcinoma Thymus adenocarcinoma NCIT:C6459 MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of Thymus adenocarcinoma of Thymus Adenocarcinoma of Thymus NCIT:C6459 Thymic Adenocarcinoma adenocarcinoma of Thymus NCIT:C6459 @@ -26508,7 +26160,6 @@ MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma Intrahepatic Cholangiocarcinoma NCIT:C35417 Intrahepatic Cholangiocarcinoma intrahepatic cholangiocarcinoma NCIT:C35417 MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC ICC iCC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ICC NCIT:C35417 MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ICC NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of nasal cavity adenocarcinoma of nasal cavity Adenocarcinoma of Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma adenocarcinoma of nasal cavity NCIT:C6015 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of the nasal cavity adenocarcinoma of the nasal cavity Adenocarcinoma of the Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma adenocarcinoma of the nasal cavity NCIT:C6015 MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym nasal cavity adenocarcinoma nasal cavity adenocarcinoma Nasal Cavity Adenocarcinoma NCIT:C6015 Nasal Cavity Adenocarcinoma nasal cavity adenocarcinoma NCIT:C6015 @@ -26530,8 +26181,8 @@ MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of the u MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of ureter adenocarcinoma of ureter Adenocarcinoma of Ureter NCIT:C6155 Ureter Adenocarcinoma adenocarcinoma of ureter NCIT:C6155 MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureter adenocarcinoma ureter adenocarcinoma Ureter Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma ureter adenocarcinoma NCIT:C6155 MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureteral adenocarcinoma ureteral adenocarcinoma Ureteral Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma ureteral adenocarcinoma NCIT:C6155 -MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma in situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 +MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ adenocarcinoma in situ NCIT:C4123 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of cardioesophageal junction adenocarcinoma of cardioesophageal junction Adenocarcinoma of Cardioesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of cardioesophageal junction NCIT:C9296 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of gastroesophageal junction adenocarcinoma of gastroesophageal junction Adenocarcinoma of Gastroesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of gastroesophageal junction NCIT:C9296 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of the EG junction adenocarcinoma of the EG junction Adenocarcinoma of the EG Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma adenocarcinoma of the EG junction NCIT:C9296 @@ -26560,8 +26211,8 @@ MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym optic nerve astrocyto MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of optic nerve glioma of optic nerve Glioma of Optic Nerve NCIT:C4537 Optic Nerve Glioma glioma of optic nerve NCIT:C4537 MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of the optic nerve glioma of the optic nerve Glioma of the Optic Nerve NCIT:C4537 Optic Nerve Glioma glioma of the optic nerve NCIT:C4537 MONDO:0003235 optic nerve glioma oio:hasExactSynonym optic nerve glioma optic nerve glioma Optic Nerve Glioma NCIT:C4537 Optic Nerve Glioma optic nerve glioma NCIT:C4537 -MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical Polypoid Adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 +MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma atypical polypoid adenomyoma NCIT:C6895 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of body of uterus adenomyoma of body of uterus Adenomyoma of Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of body of uterus NCIT:C6338 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of corpus uteri adenomyoma of corpus uteri Adenomyoma of Corpus Uteri NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of corpus uteri NCIT:C6338 MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of the body of uterus adenomyoma of the body of uterus Adenomyoma of the Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma adenomyoma of the body of uterus NCIT:C6338 @@ -26611,8 +26262,8 @@ MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym af MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym aflatoxins-related hepatocellular carcinoma aflatoxins-related hepatocellular carcinoma Aflatoxins-Related Hepatocellular Carcinoma NCIT:C27922 Aflatoxins-Related Hepatocellular Carcinoma aflatoxins-related hepatocellular carcinoma NCIT:C27922 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular cancer scirrhous hepatocellular cancer Scirrhous Hepatocellular Cancer NCIT:C27388 Scirrhous Hepatocellular Carcinoma scirrhous hepatocellular cancer NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular carcinoma scirrhous hepatocellular carcinoma Scirrhous Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma scirrhous hepatocellular carcinoma NCIT:C27388 -MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing hepatic carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 +MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatic carcinoma NCIT:C27388 MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatocellular carcinoma sclerosing hepatocellular carcinoma Sclerosing Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma sclerosing hepatocellular carcinoma NCIT:C27388 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland neoplasm adult pineal gland neoplasm Adult Pineal Gland Neoplasm NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm adult pineal gland neoplasm NCIT:C8273 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland tumor adult pineal gland tumor Adult Pineal Gland Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm adult pineal gland tumor NCIT:C8273 @@ -26652,8 +26303,8 @@ MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell neoplasm of the esophagus granular cell neoplasm of the esophagus Granular Cell Neoplasm of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell neoplasm of the esophagus NCIT:C5700 MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of esophagus granular cell tumor of esophagus Granular Cell Tumor of Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell tumor of esophagus NCIT:C5700 MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of the esophagus granular cell tumor of the esophagus Granular Cell Tumor of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor granular cell tumor of the esophagus NCIT:C5700 -MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant Granular cell tumor, malignant NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 +MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor granular cell tumor, malignant NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell myoblastoma malignant granular cell myoblastoma Malignant Granular Cell Myoblastoma NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell myoblastoma NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell neoplasm malignant granular cell neoplasm Malignant Granular Cell Neoplasm NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell neoplasm NCIT:C4336 MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell tumor malignant granular cell tumor Malignant Granular Cell Tumor NCIT:C4336 Malignant Granular Cell Tumor malignant granular cell tumor NCIT:C4336 @@ -26688,7 +26339,6 @@ MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary gland tumor posterior pituitary gland tumor Posterior Pituitary Gland Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary gland tumor NCIT:C7157 MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary neoplasm posterior pituitary neoplasm Posterior Pituitary Neoplasm NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary neoplasm NCIT:C7157 MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary tumor posterior pituitary tumor Posterior Pituitary Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm posterior pituitary tumor NCIT:C7157 -MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym PITUICYTOMA, benign PITUICYTOMA, benign PITUICYTOMA, BENIGN NCIT:C94524 Pituicytoma PITUICYTOMA, benign NCIT:C94524 MONDO:0003258 hobnail hemangioma oio:hasExactSynonym Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic Hemangioma NCIT:C27506 Hobnail Hemangioma Targetoid Hemosiderotic hemangioma NCIT:C27506 MONDO:0003258 hobnail hemangioma oio:hasExactSynonym hobnail hemangioma hobnail hemangioma Hobnail Hemangioma NCIT:C27506 Hobnail Hemangioma hobnail hemangioma NCIT:C27506 MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym adult cerebellar neoplasm adult cerebellar neoplasm Adult Cerebellar Neoplasm NCIT:C5968 Adult Cerebellar Neoplasm adult cerebellar neoplasm NCIT:C5968 @@ -26701,8 +26351,8 @@ MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of adult cere MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of the adult cerebellum tumor of the adult cerebellum Tumor of the Adult Cerebellum NCIT:C5968 Adult Cerebellar Neoplasm tumor of the adult cerebellum NCIT:C5968 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of cerebellum papillary meningioma of cerebellum Papillary Meningioma of Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma papillary meningioma of cerebellum NCIT:C5270 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of the cerebellum papillary meningioma of the cerebellum Papillary Meningioma of the Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma papillary meningioma of the cerebellum NCIT:C5270 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 +MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma rhabdoid meningioma NCIT:C6909 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasm childhood cerebellar neoplasm Childhood Cerebellar Neoplasm NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar neoplasm NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasms childhood cerebellar neoplasms Childhood Cerebellar Neoplasms NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar neoplasms NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar tumor childhood cerebellar tumor Childhood Cerebellar Tumor NCIT:C5970 Childhood Cerebellar Neoplasm childhood cerebellar tumor NCIT:C5970 @@ -26717,8 +26367,8 @@ MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neopl MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neoplasm of the cerebellum pediatric neoplasm of the cerebellum Pediatric Neoplasm of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric neoplasm of the cerebellum NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of cerebellum pediatric tumor of cerebellum Pediatric Tumor of Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric tumor of cerebellum NCIT:C5970 MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of the cerebellum pediatric tumor of the cerebellum Pediatric Tumor of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm pediatric tumor of the cerebellum NCIT:C5970 -MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 +MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous cell carcinoma basosquamous cell carcinoma Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous cell carcinoma NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous tumor, malignant basosquamous tumor, malignant BASOSQUAMOUS TUMOR, MALIGNANT NCIT:C2922 Skin Basosquamous Cell Carcinoma basosquamous tumor, malignant NCIT:C2922 MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym skin basosquamous cell carcinoma skin basosquamous cell carcinoma Skin Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma skin basosquamous cell carcinoma NCIT:C2922 @@ -26730,8 +26380,8 @@ MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed glioma, mixed Glio MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed, malignant glioma, mixed, malignant GLIOMA, MIXED, MALIGNANT NCIT:C3903 Mixed Glioma glioma, mixed, malignant NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial neoplasm mixed glial neoplasm Mixed Glial Neoplasm NCIT:C3903 Mixed Glioma mixed glial neoplasm NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial tumor mixed glial tumor Mixed Glial Tumor NCIT:C3903 Mixed Glioma mixed glial tumor NCIT:C3903 -MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 +MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma mixed glioma NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial neoplasm mixed neuroglial neoplasm Mixed Neuroglial Neoplasm NCIT:C3903 Mixed Glioma mixed neuroglial neoplasm NCIT:C3903 MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial tumor mixed neuroglial tumor Mixed Neuroglial Tumor NCIT:C3903 Mixed Glioma mixed neuroglial tumor NCIT:C3903 MONDO:0003273 sternum cancer oio:hasExactSynonym malignant neoplasm of sternum malignant neoplasm of sternum Malignant Neoplasm of Sternum NCIT:C8408 Malignant Sternal Neoplasm malignant neoplasm of sternum NCIT:C8408 @@ -26776,12 +26426,12 @@ MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of central nervous system leiomyoma of central nervous system Leiomyoma of Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of central nervous system NCIT:C6998 MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the CNS leiomyoma of the CNS Leiomyoma of the CNS NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of the CNS NCIT:C6998 MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the central nervous system leiomyoma of the central nervous system Leiomyoma of the Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma leiomyoma of the central nervous system NCIT:C6998 -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma atypical leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre Leiomyoma NCIT:C4257 Bizarre Leiomyoma bizarre leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre leiomyoma NCIT:C4257 Bizarre Leiomyoma bizarre leiomyoma NCIT:C4257 -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic Leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma pleomorphic leiomyoma NCIT:C4257 MONDO:0003289 deep leiomyoma oio:hasExactSynonym deep leiomyoma deep leiomyoma Deep Leiomyoma NCIT:C6512 Deep Leiomyoma deep leiomyoma NCIT:C6512 MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous (skin) leiomyoma cutaneous (skin) leiomyoma Cutaneous (Skin) Leiomyoma NCIT:C4482 Skin Leiomyoma cutaneous (skin) leiomyoma NCIT:C4482 MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous leiomyoma cutaneous leiomyoma Cutaneous Leiomyoma NCIT:C4482 Skin Leiomyoma cutaneous leiomyoma NCIT:C4482 @@ -26800,8 +26450,8 @@ MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of pericardiu MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of the pericardium leiomyoma of the pericardium Leiomyoma of the Pericardium NCIT:C6743 Pericardial Leiomyoma leiomyoma of the pericardium NCIT:C6743 MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym pericardial leiomyoma pericardial leiomyoma Pericardial Leiomyoma NCIT:C6743 Pericardial Leiomyoma pericardial leiomyoma NCIT:C6743 MONDO:0003295 leiomyomatosis oio:hasExactSynonym leiomyomatosis leiomyomatosis Leiomyomatosis NCIT:C3748 Leiomyomatosis leiomyomatosis NCIT:C3748 -MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 +MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma cellular leiomyoma NCIT:C4256 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym gallbladder leiomyoma gallbladder leiomyoma Gallbladder Leiomyoma NCIT:C5747 Gallbladder Leiomyoma gallbladder leiomyoma NCIT:C5747 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of gallbladder leiomyoma of gallbladder Leiomyoma of Gallbladder NCIT:C5747 Gallbladder Leiomyoma leiomyoma of gallbladder NCIT:C5747 MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of the gallbladder leiomyoma of the gallbladder Leiomyoma of the Gallbladder NCIT:C5747 Gallbladder Leiomyoma leiomyoma of the gallbladder NCIT:C5747 @@ -26893,8 +26543,8 @@ MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign pericytic ne MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular neoplasm benign perivascular neoplasm Benign Perivascular Neoplasm NCIT:C6529 Benign Pericytic Neoplasm benign perivascular neoplasm NCIT:C6529 MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular tumor benign perivascular tumor Benign Perivascular Tumor NCIT:C6529 Benign Pericytic Neoplasm benign perivascular tumor NCIT:C6529 MONDO:0003343 retinal hemangioblastoma oio:hasExactSynonym retinal hemangioblastoma retinal hemangioblastoma Retinal Hemangioblastoma NCIT:C39783 Retinal Hemangioblastoma retinal hemangioblastoma NCIT:C39783 -MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 +MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma Klatskin tumor NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar CC hilar CC Hilar CC NCIT:C36077 Hilar Cholangiocarcinoma hilar CC NCIT:C36077 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar cholangiocarcinoma hilar cholangiocarcinoma Hilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma hilar cholangiocarcinoma NCIT:C36077 MONDO:0003346 central nervous system vasculitis oio:hasExactSynonym central nervous system vasculitis central nervous system vasculitis Central Nervous System Vasculitis NCIT:C84622 Central Nervous System Vasculitis central nervous system vasculitis NCIT:C84622 @@ -26928,8 +26578,8 @@ MONDO:0003354 heart sarcoma oio:hasExactSynonym sarcoma of the heart sarcoma of MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of ovary leiomyosarcoma of ovary Leiomyosarcoma of Ovary NCIT:C5234 Ovarian Leiomyosarcoma leiomyosarcoma of ovary NCIT:C5234 MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the ovary leiomyosarcoma of the ovary Leiomyosarcoma of the Ovary NCIT:C5234 Ovarian Leiomyosarcoma leiomyosarcoma of the ovary NCIT:C5234 MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym ovarian leiomyosarcoma ovarian leiomyosarcoma Ovarian Leiomyosarcoma NCIT:C5234 Ovarian Leiomyosarcoma ovarian leiomyosarcoma NCIT:C5234 -MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 +MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma epithelioid leiomyosarcoma NCIT:C3700 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of lung leiomyosarcoma of lung Leiomyosarcoma of Lung NCIT:C5667 Lung Leiomyosarcoma leiomyosarcoma of lung NCIT:C5667 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the lung leiomyosarcoma of the lung Leiomyosarcoma of the Lung NCIT:C5667 Lung Leiomyosarcoma leiomyosarcoma of the lung NCIT:C5667 MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym lung leiomyosarcoma lung leiomyosarcoma Lung Leiomyosarcoma NCIT:C5667 Lung Leiomyosarcoma lung leiomyosarcoma NCIT:C5667 @@ -27098,18 +26748,17 @@ MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma b MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct mucinous cystic neoplasm bile duct mucinous cystic neoplasm Bile Duct Mucinous Cystic Neoplasm NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm bile duct mucinous cystic neoplasm NCIT:C4129 MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of bile duct cystadenoma of bile duct Cystadenoma of Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm cystadenoma of bile duct NCIT:C4129 MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of the bile duct cystadenoma of the bile duct Cystadenoma of the Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm cystadenoma of the bile duct NCIT:C4129 -MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed Cell Adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 +MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma mixed cell adenoma NCIT:C4157 MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of lung adenoma of lung Adenoma of Lung NCIT:C4455 Lung Adenoma adenoma of lung NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of the lung adenoma of the lung Adenoma of the Lung NCIT:C4455 Lung Adenoma adenoma of the lung NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym lung adenoma lung adenoma Lung Adenoma NCIT:C4455 Lung Adenoma lung adenoma NCIT:C4455 MONDO:0003422 lung adenoma oio:hasExactSynonym pulmonary adenoma pulmonary adenoma Pulmonary Adenoma NCIT:C4455 Lung Adenoma pulmonary adenoma NCIT:C4455 MONDO:0003423 middle ear adenoma oio:hasExactSynonym middle ear adenoma middle ear adenoma Middle Ear Adenoma NCIT:C6834 Middle Ear Neuroendocrine Tumor middle ear adenoma NCIT:C6834 -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 +MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma oncocytic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic Adenoma NCIT:C3759 Oncocytic Adenoma oxyphilic adenoma NCIT:C3759 MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic adenoma NCIT:C3759 Oncocytic Adenoma oxyphilic adenoma NCIT:C3759 -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm oncocytoma NCIT:C7072 MONDO:0003426 clear cell adenoma oio:hasExactSynonym adenoma, clear cell, benign adenoma, clear cell, benign ADENOMA, CLEAR CELL, BENIGN NCIT:C4151 Clear Cell Adenoma adenoma, clear cell, benign NCIT:C4151 MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear cell adenoma NCIT:C4151 Clear Cell Adenoma clear cell adenoma NCIT:C4151 MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear Cell Adenoma NCIT:C4151 Clear Cell Adenoma clear cell adenoma NCIT:C4151 @@ -27141,8 +26790,8 @@ MONDO:0003432 strabismus oio:hasExactSynonym squint squint Squint NCIT:C35040 S MONDO:0003432 strabismus oio:hasExactSynonym strabismus strabismus Strabismus NCIT:C35040 Strabismus strabismus NCIT:C35040 MONDO:0003433 water-clear cell adenoma oio:hasExactSynonym parathyroid gland water-clear cell adenoma parathyroid gland water-clear cell adenoma Parathyroid Gland Water-Clear Cell Adenoma NCIT:C4155 Parathyroid Gland Water-Clear Cell Adenoma parathyroid gland water-clear cell adenoma NCIT:C4155 MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma vaginal adenoma Vaginal Adenoma NCIT:C40256 Vaginal Adenoma vaginal adenoma NCIT:C40256 -MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 +MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma microcystic adenoma NCIT:C3685 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of lung occult small cell carcinoma of lung Occult Small Cell Carcinoma of Lung NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell carcinoma of lung NCIT:C6683 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult Small Cell Carcinoma of the Lung NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell carcinoma of the lung NCIT:C6683 MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell lung carcinoma occult small cell lung carcinoma Occult Small Cell Lung Carcinoma NCIT:C6683 Occult Lung Small Cell Carcinoma occult small cell lung carcinoma NCIT:C6683 @@ -27180,8 +26829,8 @@ MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym intrahepatic b MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of extrahepatic bile duct adenoma of extrahepatic bile duct Adenoma of Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma adenoma of extrahepatic bile duct NCIT:C5857 MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of the extrahepatic bile duct adenoma of the extrahepatic bile duct Adenoma of the Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma adenoma of the extrahepatic bile duct NCIT:C5857 MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym extrahepatic bile duct adenoma extrahepatic bile duct adenoma Extrahepatic Bile Duct Adenoma NCIT:C5857 Extrahepatic Bile Duct Adenoma extrahepatic bile duct adenoma NCIT:C5857 -MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 +MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum hidradenoma papilliferum NCIT:C4171 MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear Cell Hidradenoma NCIT:C7567 Clear Cell Hidradenoma clear cell hidradenoma NCIT:C7567 MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear cell hidradenoma NCIT:C7567 Clear Cell Hidradenoma clear cell hidradenoma NCIT:C7567 MONDO:0003448 benign spiradenoma oio:hasExactSynonym spiradenoma spiradenoma Spiradenoma NCIT:C4170 Spiradenoma spiradenoma NCIT:C4170 @@ -27198,8 +26847,8 @@ MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant neoplasm of the MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of conjunctiva malignant tumor of conjunctiva Malignant Tumor of Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm malignant tumor of conjunctiva NCIT:C3564 MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of the conjunctiva malignant tumor of the conjunctiva Malignant Tumor of the Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm malignant tumor of the conjunctiva NCIT:C3564 MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym bile duct papillomatosis bile duct papillomatosis Bile Duct Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm bile duct papillomatosis NCIT:C6881 -MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 +MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm biliary papillomatosis NCIT:C6881 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of body of uterus adenofibroma of body of uterus Adenofibroma of Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of body of uterus NCIT:C6337 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of corpus uteri adenofibroma of corpus uteri Adenofibroma of Corpus Uteri NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of corpus uteri NCIT:C6337 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of the body of uterus adenofibroma of the body of uterus Adenofibroma of the Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma adenofibroma of the body of uterus NCIT:C6337 @@ -27233,7 +26882,6 @@ MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid synovial sarcoma epithelioid synovial sarcoma Epithelioid Synovial Sarcoma NCIT:C4278 Epithelial Synovial Sarcoma epithelioid synovial sarcoma NCIT:C4278 MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym synovial sarcoma, epithelioid cell synovial sarcoma, epithelioid cell Synovial sarcoma, epithelioid cell NCIT:C4278 Epithelial Synovial Sarcoma synovial sarcoma, epithelioid cell NCIT:C4278 MONDO:0003472 lice infestation oio:hasExactSynonym pediculosis pediculosis Pediculosis NCIT:C128401 Pediculosis pediculosis NCIT:C128401 -MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma spinal cord ependymoma NCIT:C27399 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of spinal cord ependymoma of spinal cord Ependymoma of Spinal Cord NCIT:C3875 Spinal Cord Ependymoma ependymoma of spinal cord NCIT:C3875 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of the spinal cord ependymoma of the spinal cord Ependymoma of the Spinal Cord NCIT:C3875 Spinal Cord Ependymoma ependymoma of the spinal cord NCIT:C3875 MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma spinal cord ependymoma NCIT:C3875 @@ -27357,8 +27005,8 @@ MONDO:0003516 adult teratoma oio:hasExactSynonym adult teratoma adult teratoma MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma mature teratoma NCIT:C9015 MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma mature teratoma NCIT:C9015 MONDO:0003518 mediastinum teratoma oio:hasExactSynonym teratoma of mediastinum teratoma of mediastinum Teratoma of Mediastinum NCIT:C6438 Mediastinal Teratoma teratoma of mediastinum NCIT:C6438 -MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic adnexal carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 +MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma microcystic adnexal carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma syringomatous carcinoma NCIT:C7581 MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma syringomatous carcinoma NCIT:C7581 MONDO:0003522 male orgasm disorder oio:hasExactSynonym male orgasmic disorder male orgasmic disorder Male Orgasmic Disorder NCIT:C34959 Male Orgasmic Disorder male orgasmic disorder NCIT:C34959 @@ -27399,8 +27047,6 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym p MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic leukemia/lymphoma precursor lymphoblastic leukemia/lymphoma Precursor Lymphoblastic Leukemia/Lymphoma NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoblastic leukemia/lymphoma NCIT:C7055 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia Precursor Lymphoblastic Lymphoma/Leukemia NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoblastic lymphoma/leukemia NCIT:C7055 MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoid neoplasm precursor lymphoid neoplasm Precursor Lymphoid Neoplasm NCIT:C7055 Precursor Lymphoid Neoplasm precursor lymphoid neoplasm NCIT:C7055 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C3183 -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T cell adult ALL T cell adult ALL T Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T cell adult ALL NCIT:C9142 MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T-cell adult ALL T-cell adult ALL T-Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T-cell adult ALL NCIT:C9142 @@ -27470,8 +27116,8 @@ MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym disorder of cranial MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-Rich Carcinoma NCIT:C4152 Lipid-Rich Carcinoma lipid-rich carcinoma NCIT:C4152 MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-rich carcinoma NCIT:C4152 Lipid-Rich Carcinoma lipid-rich carcinoma NCIT:C4152 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym Schmincke tumor Schmincke tumor Schmincke Tumor NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma Schmincke tumor NCIT:C4107 -MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelial carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma lymphoepithelioma Lymphoepithelioma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-like carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma-like carcinoma NCIT:C4107 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-Like Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma lymphoepithelioma-like carcinoma NCIT:C4107 @@ -27535,8 +27181,8 @@ MONDO:0003592 gastric liposarcoma oio:hasExactSynonym stomach liposarcoma stoma MONDO:0003593 breast liposarcoma oio:hasExactSynonym breast liposarcoma breast liposarcoma Breast Liposarcoma NCIT:C5187 Breast Liposarcoma breast liposarcoma NCIT:C5187 MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of breast liposarcoma of breast Liposarcoma of Breast NCIT:C5187 Breast Liposarcoma liposarcoma of breast NCIT:C5187 MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of the breast liposarcoma of the breast Liposarcoma of the Breast NCIT:C5187 Breast Liposarcoma liposarcoma of the breast NCIT:C5187 -MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed Liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 +MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma mixed liposarcoma NCIT:C4253 MONDO:0003596 spindle cell liposarcoma oio:hasExactSynonym spindle cell liposarcoma spindle cell liposarcoma Spindle Cell Liposarcoma NCIT:C27489 Atypical Spindle Cell/Pleomorphic Lipomatous Tumor spindle cell liposarcoma NCIT:C27489 MONDO:0003599 vulvar liposarcoma oio:hasExactSynonym vulvar liposarcoma vulvar liposarcoma Vulvar Liposarcoma NCIT:C40321 Vulvar Liposarcoma vulvar liposarcoma NCIT:C40321 MONDO:0003600 cutaneous liposarcoma oio:hasExactSynonym cutaneous liposarcoma cutaneous liposarcoma Cutaneous Liposarcoma NCIT:C5615 Skin Liposarcoma cutaneous liposarcoma NCIT:C5615 @@ -27578,8 +27224,8 @@ MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym pancreat MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of pancreas serous cystadenocarcinoma of pancreas Serous Cystadenocarcinoma of Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma serous cystadenocarcinoma of pancreas NCIT:C5724 MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of the pancreas serous cystadenocarcinoma of the pancreas Serous Cystadenocarcinoma of the Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma serous cystadenocarcinoma of the pancreas NCIT:C5724 MONDO:0003631 cervical serous adenocarcinoma oio:hasExactSynonym cervical serous adenocarcinoma cervical serous adenocarcinoma Cervical Serous Adenocarcinoma NCIT:C40201 Cervical Serous Adenocarcinoma cervical serous adenocarcinoma NCIT:C40201 -MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant Mesenchymoma, malignant NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 +MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma mesenchymoma, malignant NCIT:C4268 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym Sugar tumor Sugar tumor Sugar Tumor NCIT:C38152 Lung Clear Cell Tumor Sugar tumor NCIT:C38152 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of lung clear cell-Sugar-tumor of lung Clear Cell-Sugar-Tumor of Lung NCIT:C38152 Lung Clear Cell Tumor clear cell-Sugar-tumor of lung NCIT:C38152 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of the lung clear cell-Sugar-tumor of the lung Clear Cell-Sugar-Tumor of the Lung NCIT:C38152 Lung Clear Cell Tumor clear cell-Sugar-tumor of the lung NCIT:C38152 @@ -27689,8 +27335,8 @@ MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondros MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondrosarcoma periosteal chondrosarcoma Periosteal Chondrosarcoma NCIT:C7357 Periosteal Chondrosarcoma periosteal chondrosarcoma NCIT:C7357 MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym chondrosarcoma, localized chondrosarcoma, localized Chondrosarcoma, Localized NCIT:C8778 Localized Chondrosarcoma chondrosarcoma, localized NCIT:C8778 MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym localized chondrosarcoma localized chondrosarcoma Localized Chondrosarcoma NCIT:C8778 Localized Chondrosarcoma localized chondrosarcoma NCIT:C8778 -MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear Cell Chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 +MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma clear cell chondrosarcoma NCIT:C6475 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of retroperitoneum germ cell neoplasm of retroperitoneum Germ Cell Neoplasm of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell neoplasm of retroperitoneum NCIT:C6447 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of the retroperitoneum germ cell neoplasm of the retroperitoneum Germ Cell Neoplasm of the Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell neoplasm of the retroperitoneum NCIT:C6447 MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell tumor of retroperitoneum germ cell tumor of retroperitoneum Germ Cell Tumor of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor germ cell tumor of retroperitoneum NCIT:C6447 @@ -27723,8 +27369,8 @@ MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym adult malignant e MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym malignant adult ependymoma malignant adult ependymoma Malignant Adult Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma malignant adult ependymoma NCIT:C8269 MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym childhood malignant mesenchymoma childhood malignant mesenchymoma Childhood Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma childhood malignant mesenchymoma NCIT:C8097 MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym adult malignant mesenchymoma adult malignant mesenchymoma Adult Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma adult malignant mesenchymoma NCIT:C7947 -MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear cell cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 +MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma clear cell cystadenofibroma NCIT:C8988 MONDO:0003694 ovarian clear cell cystadenofibroma oio:hasExactSynonym ovarian clear cell cystadenofibroma ovarian clear cell cystadenofibroma Ovarian Clear Cell Cystadenofibroma NCIT:C40086 Ovarian Clear Cell Cystadenofibroma ovarian clear cell cystadenofibroma NCIT:C40086 MONDO:0003695 ovarian clear cell adenofibroma oio:hasExactSynonym ovarian clear cell adenofibroma ovarian clear cell adenofibroma Ovarian Clear Cell Adenofibroma NCIT:C40085 Ovarian Clear Cell Adenofibroma ovarian clear cell adenofibroma NCIT:C40085 MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym non-invasive penile verrucous carcinoma non-invasive penile verrucous carcinoma Non-Invasive Penile Verrucous Carcinoma NCIT:C27791 Non-Invasive Verrucous Carcinoma of the Penis non-invasive penile verrucous carcinoma NCIT:C27791 @@ -27839,7 +27485,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of breast fi MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breast fibrosarcoma of the breast Fibrosarcoma of the Breast NCIT:C5185 Breast Fibrosarcoma fibrosarcoma of the breast NCIT:C5185 MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis aleukemic leukemia cutis Aleukemic Leukemia Cutis NCIT:C4983 Aleukemic Leukemia Cutis aleukemic leukemia cutis NCIT:C4983 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia aleukemic leukemia Aleukemic Leukemia NCIT:C4982 Aleukemic Leukemia aleukemic leukemia NCIT:C4982 -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5441 Central Nervous System Teratoma Central nervous system teratoma NCIT:C5441 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma Central nervous system teratoma NCIT:C5794 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult CNS teratoma adult CNS teratoma Adult CNS Teratoma NCIT:C5794 Adult Central Nervous System Teratoma adult CNS teratoma NCIT:C5794 MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma adult central nervous system teratoma Adult Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma adult central nervous system teratoma NCIT:C5794 @@ -27942,8 +27587,8 @@ MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric o MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric ovarian germ cell tumor pediatric ovarian germ cell tumor Pediatric Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor pediatric ovarian germ cell tumor NCIT:C8588 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym leptomeningeal melanoma leptomeningeal melanoma Leptomeningeal Melanoma NCIT:C5317 Meningeal Melanoma leptomeningeal melanoma NCIT:C5317 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym melanoma of the leptomeninges melanoma of the leptomeninges Melanoma of the Leptomeninges NCIT:C5317 Meningeal Melanoma melanoma of the leptomeninges NCIT:C5317 -MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal Melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 +MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma meningeal melanoma NCIT:C5317 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal neoplasm malignant leptomeningeal neoplasm Malignant Leptomeningeal Neoplasm NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant leptomeningeal neoplasm NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal tumor malignant leptomeningeal tumor Malignant Leptomeningeal Tumor NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant leptomeningeal tumor NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant tumor of leptomeninges malignant tumor of leptomeninges Malignant Tumor of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm malignant tumor of leptomeninges NCIT:C8506 @@ -28049,8 +27694,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixed mesodermal Müllerian tumor ovarian malignant mixed mesodermal Müllerian tumor Ovarian Malignant Mixed Mesodermal Müllerian Tumor NCIT:C9192 Ovarian Carcinosarcoma ovarian malignant mixed mesodermal Müllerian tumor NCIT:C9192 MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell cancer ovarian small cell cancer Ovarian Small Cell Cancer NCIT:C27390 Ovarian Small Cell Carcinoma ovarian small cell cancer NCIT:C27390 MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma ovarian small cell carcinoma Ovarian Small Cell Carcinoma NCIT:C27390 Ovarian Small Cell Carcinoma ovarian small cell carcinoma NCIT:C27390 -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell NEC ovarian small cell NEC Ovarian Small Cell NEC NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type ovarian small cell NEC NCIT:C40440 -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell neuroendocrine carcinoma ovarian small cell neuroendocrine carcinoma Ovarian Small Cell Neuroendocrine Carcinoma NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type ovarian small cell neuroendocrine carcinoma NCIT:C40440 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum Kaposi's sarcoma of rectum Kaposi's Sarcoma of Rectum NCIT:C5550 Rectal Kaposi Sarcoma Kaposi's sarcoma of rectum NCIT:C5550 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of the rectum Kaposi's sarcoma of the rectum Kaposi's Sarcoma of the Rectum NCIT:C5550 Rectal Kaposi Sarcoma Kaposi's sarcoma of the rectum NCIT:C5550 MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectal Kaposi sarcoma rectal Kaposi sarcoma Rectal Kaposi Sarcoma NCIT:C5550 Rectal Kaposi Sarcoma rectal Kaposi sarcoma NCIT:C5550 @@ -28358,8 +28001,8 @@ MONDO:0003878 malignant choroid melanoma oio:hasExactSynonym melanoma of the ch MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid adenocarcinofibroma ovarian endometrioid adenocarcinofibroma Ovarian Endometrioid Adenocarcinofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma ovarian endometrioid adenocarcinofibroma NCIT:C40060 MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid malignant adenofibroma ovarian endometrioid malignant adenofibroma Ovarian Endometrioid Malignant Adenofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma ovarian endometrioid malignant adenofibroma NCIT:C40060 MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym carcinoma, ceruminous gland, malignant carcinoma, ceruminous gland, malignant CARCINOMA, CERUMINOUS GLAND, MALIGNANT NCIT:C4176 Ceruminous Adenocarcinoma carcinoma, ceruminous gland, malignant NCIT:C4176 -MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 +MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma ceruminous adenocarcinoma NCIT:C4176 MONDO:0003881 vulvar apocrine adenocarcinoma oio:hasExactSynonym vulvar apocrine adenocarcinoma vulvar apocrine adenocarcinoma Vulvar Apocrine Adenocarcinoma NCIT:C40308 Vulvar Apocrine Adenocarcinoma vulvar apocrine adenocarcinoma NCIT:C40308 MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym CNS fibrosarcoma CNS fibrosarcoma CNS Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma CNS fibrosarcoma NCIT:C5465 MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym central nervous system fibrosarcoma central nervous system fibrosarcoma Central Nervous System Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma central nervous system fibrosarcoma NCIT:C5465 @@ -28399,8 +28042,8 @@ MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocy MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of mediastinum melanocytic schwannoma of mediastinum Melanocytic Schwannoma of Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma melanocytic schwannoma of mediastinum NCIT:C6635 MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of the mediastinum melanocytic schwannoma of the mediastinum Melanocytic Schwannoma of the Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma melanocytic schwannoma of the mediastinum NCIT:C6635 MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym juxtacortical chondroblastic osteosarcoma juxtacortical chondroblastic osteosarcoma Juxtacortical Chondroblastic Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma juxtacortical chondroblastic osteosarcoma NCIT:C8970 -MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 +MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma periosteal osteosarcoma NCIT:C8970 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary angioma breast capillary angioma Breast Capillary Angioma NCIT:C5210 Breast Capillary Hemangioma breast capillary angioma NCIT:C5210 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary hemangioma breast capillary hemangioma Breast Capillary Hemangioma NCIT:C5210 Breast Capillary Hemangioma breast capillary hemangioma NCIT:C5210 MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym capillary angioma of breast capillary angioma of breast Capillary Angioma of Breast NCIT:C5210 Breast Capillary Hemangioma capillary angioma of breast NCIT:C5210 @@ -28423,7 +28066,6 @@ MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disorders connective tissue disorders Connective Tissue Disorders NCIT:C26729 Connective Tissue Disorder connective tissue disorders NCIT:C26729 MONDO:0003900 connective tissue disorder oio:hasExactSynonym disorder of connective tissue disorder of connective tissue Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder disorder of connective tissue NCIT:C26729 MONDO:0003900 connective tissue disorder oio:hasExactSynonym primary disorder of connective tissue primary disorder of connective tissue Primary Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder primary disorder of connective tissue NCIT:C26729 -MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder connective tissue disease NCIT:C27204 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of cerebellum angioblastoma of cerebellum Angioblastoma of Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma angioblastoma of cerebellum NCIT:C5146 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of the cerebellum angioblastoma of the cerebellum Angioblastoma of the Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma angioblastoma of the cerebellum NCIT:C5146 MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym cerebellar angioblastoma cerebellar angioblastoma Cerebellar Angioblastoma NCIT:C5146 Cerebellar Hemangioblastoma cerebellar angioblastoma NCIT:C5146 @@ -28585,7 +28227,6 @@ MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of adult central nervous system choriocarcinoma of adult central nervous system Choriocarcinoma of Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of adult central nervous system NCIT:C5793 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult CNS choriocarcinoma of the adult CNS Choriocarcinoma of the Adult CNS NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of the adult CNS NCIT:C5793 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult central nervous system choriocarcinoma of the adult central nervous system Choriocarcinoma of the Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma choriocarcinoma of the adult central nervous system NCIT:C5793 -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C5793 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood CNS choriocarcinoma childhood CNS choriocarcinoma Childhood CNS Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma childhood CNS choriocarcinoma NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood central nervous system choriocarcinoma childhood central nervous system choriocarcinoma Childhood Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma childhood central nervous system choriocarcinoma NCIT:C6206 @@ -28598,7 +28239,6 @@ MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric CNS choriocarcinoma of the pediatric CNS Choriocarcinoma of the Pediatric CNS NCIT:C6206 Childhood Central Nervous System Choriocarcinoma choriocarcinoma of the pediatric CNS NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric central nervous system choriocarcinoma of the pediatric central nervous system Choriocarcinoma of the Pediatric Central Nervous System NCIT:C6206 Childhood Central Nervous System Choriocarcinoma choriocarcinoma of the pediatric central nervous system NCIT:C6206 MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym pediatric central nervous system choriocarcinoma pediatric central nervous system choriocarcinoma Pediatric Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma pediatric central nervous system choriocarcinoma NCIT:C6206 -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma Central nervous system choriocarcinoma NCIT:C7012 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym Swiss cheese disease Swiss cheese disease Swiss Cheese Disease NCIT:C9503 Juvenile Breast Papillomatosis Swiss cheese disease NCIT:C9503 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile breast papillomatosis juvenile breast papillomatosis Juvenile Breast Papillomatosis NCIT:C9503 Juvenile Breast Papillomatosis juvenile breast papillomatosis NCIT:C9503 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile papillomatosis of breast juvenile papillomatosis of breast Juvenile Papillomatosis of Breast NCIT:C9503 Juvenile Breast Papillomatosis juvenile papillomatosis of breast NCIT:C9503 @@ -28624,7 +28264,6 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Launois-Cleret syndrome Lau MONDO:0003962 Froelich syndrome oio:hasExactSynonym dystrophia Adiposogenitalis dystrophia Adiposogenitalis Dystrophia Adiposogenitalis NCIT:C34625 Frohlich Syndrome dystrophia Adiposogenitalis NCIT:C34625 MONDO:0003962 Froelich syndrome oio:hasExactSynonym hypothalamic infantilism-obesity hypothalamic infantilism-obesity Hypothalamic Infantilism-Obesity NCIT:C34625 Frohlich Syndrome hypothalamic infantilism-obesity NCIT:C34625 MONDO:0003962 Froelich syndrome oio:hasExactSynonym sexual infantilism sexual infantilism Sexual Infantilism NCIT:C34625 Frohlich Syndrome sexual infantilism NCIT:C34625 -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva myositis ossificans progressiva NCIT:C3040 MONDO:0003967 synchronous multifocal osteogenic sarcoma oio:hasExactSynonym synchronous multifocal osteosarcoma synchronous multifocal osteosarcoma Synchronous Multifocal Osteosarcoma NCIT:C6471 Synchronous Multifocal Osteosarcoma synchronous multifocal osteosarcoma NCIT:C6471 MONDO:0003968 asynchronous multifocal osteogenic sarcoma oio:hasExactSynonym asynchronous multifocal osteosarcoma asynchronous multifocal osteosarcoma Asynchronous Multifocal Osteosarcoma NCIT:C6472 Asynchronous Multifocal Osteosarcoma asynchronous multifocal osteosarcoma NCIT:C6472 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach carcinoma of fundus of stomach Carcinoma of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma carcinoma of fundus of stomach NCIT:C8398 @@ -28959,8 +28598,8 @@ MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum NCIT:C6630 MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanotic peripheral nerve sheath tumor of the mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum NCIT:C6630 MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym mediastinal melanocytic MPNST mediastinal melanocytic MPNST Mediastinal Melanocytic MPNST NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum mediastinal melanocytic MPNST NCIT:C6630 -MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult cystic teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 +MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma adult cystic teratoma NCIT:C9012 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym combined small cell and squamous cell lung carcinoma combined small cell and squamous cell lung carcinoma Combined Small Cell and Squamous Cell Lung Carcinoma NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma combined small cell and squamous cell lung carcinoma NCIT:C9423 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym mixed small cell and squamous cell carcinoma of the lung mixed small cell and squamous cell carcinoma of the lung Mixed Small Cell and Squamous Cell Carcinoma of the Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma mixed small cell and squamous cell carcinoma of the lung NCIT:C9423 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym small cell and squamous cell carcinoma of lung small cell and squamous cell carcinoma of lung Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma small cell and squamous cell carcinoma of lung NCIT:C9423 @@ -29051,8 +28690,8 @@ MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal Buschke-Lowenst MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal giant (malignant) condyloma anal giant (malignant) condyloma Anal Giant (Malignant) Condyloma NCIT:C7470 Anal Verrucous Carcinoma anal giant (malignant) condyloma NCIT:C7470 MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal verrucous carcinoma anal verrucous carcinoma Anal Verrucous Carcinoma NCIT:C7470 Anal Verrucous Carcinoma anal verrucous carcinoma NCIT:C7470 MONDO:0004132 anal canal squamous cell carcinoma oio:hasExactSynonym anal canal squamous cell carcinoma anal canal squamous cell carcinoma Anal Canal Squamous Cell Carcinoma NCIT:C7469 Anal Canal Squamous Cell Carcinoma anal canal squamous cell carcinoma NCIT:C7469 -MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 +MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym pituitary gland mixed acidophil-basophil adenoma pituitary gland mixed acidophil-basophil adenoma Pituitary Gland Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma pituitary gland mixed acidophil-basophil adenoma NCIT:C4148 MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign dermal schwannoma benign dermal schwannoma Benign Dermal Schwannoma NCIT:C5569 Cutaneous Schwannoma benign dermal schwannoma NCIT:C5569 MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign neurilemmoma of skin benign neurilemmoma of skin Benign Neurilemmoma of Skin NCIT:C5569 Cutaneous Schwannoma benign neurilemmoma of skin NCIT:C5569 @@ -29075,8 +28714,8 @@ MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSyno MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic Meningioma NCIT:C4330 Fibrous Meningioma fibroblastic meningioma NCIT:C4330 MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic meningioma NCIT:C4330 Fibrous Meningioma fibroblastic meningioma NCIT:C4330 MONDO:0004145 meningothelial meningioma oio:hasExactSynonym Meningotheliomatous meningioma Meningotheliomatous meningioma Meningotheliomatous Meningioma NCIT:C4329 Meningothelial Meningioma Meningotheliomatous meningioma NCIT:C4329 -MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed Meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 +MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma mixed meningioma NCIT:C4333 MONDO:0004146 transitional meningioma oio:hasExactSynonym transitional (mixed) meningioma transitional (mixed) meningioma Transitional (Mixed) Meningioma NCIT:C4333 Transitional Meningioma transitional (mixed) meningioma NCIT:C4333 MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym malignant thymoma, noninvasive malignant thymoma, noninvasive Malignant Thymoma, Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma malignant thymoma, noninvasive NCIT:C9080 MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym thymoma malignant noninvasive thymoma malignant noninvasive Thymoma Malignant Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma thymoma malignant noninvasive NCIT:C9080 @@ -29087,8 +28726,8 @@ MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcino MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma oio:hasExactSynonym papillary carcinoma of the gallbladder papillary carcinoma of the gallbladder Papillary Carcinoma of the Gallbladder NCIT:C5743 Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma papillary carcinoma of the gallbladder NCIT:C5743 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym breast giant fibroadenoma breast giant fibroadenoma Breast Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma breast giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant breast fibroadenoma giant breast fibroadenoma Giant Breast Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant breast fibroadenoma NCIT:C4273 -MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 +MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of breast giant fibroadenoma of breast Giant Fibroadenoma of Breast NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma of breast NCIT:C4273 MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of the breast giant fibroadenoma of the breast Giant Fibroadenoma of the Breast NCIT:C4273 Breast Giant Fibroadenoma giant fibroadenoma of the breast NCIT:C4273 MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation oio:hasExactSynonym CLL/SLL with IGVH SHM NCIT:C37201 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation CLL/SLL with IGVH SHM NCIT:C37201 @@ -29112,7 +28751,6 @@ MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynon MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of adult central nervous system embryonal carcinoma of adult central nervous system Embryonal Carcinoma of Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of adult central nervous system NCIT:C5790 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult CNS embryonal carcinoma of the adult CNS Embryonal Carcinoma of the Adult CNS NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of the adult CNS NCIT:C5790 MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal Carcinoma of the Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma embryonal carcinoma of the adult central nervous system NCIT:C5790 -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma Central nervous system embryonal carcinoma NCIT:C7010 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of pancreas colloid Cystadencarcinoma of pancreas Colloid Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloid Cystadencarcinoma of pancreas NCIT:C5713 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of the pancreas colloid Cystadencarcinoma of the pancreas Colloid Cystadencarcinoma of the Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloid Cystadencarcinoma of the pancreas NCIT:C5713 MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloidal Cystadencarcinoma of pancreas colloidal Cystadencarcinoma of pancreas Colloidal Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma colloidal Cystadencarcinoma of pancreas NCIT:C5713 @@ -29262,8 +28900,8 @@ MONDO:0004223 polyp of middle ear oio:hasExactSynonym middle ear polyp middle e MONDO:0004223 polyp of middle ear oio:hasExactSynonym polyp of the middle ear polyp of the middle ear Polyp of the Middle Ear NCIT:C6933 Middle Ear Polyp polyp of the middle ear NCIT:C6933 MONDO:0004224 chronic metabolic polyneuropathy oio:hasExactSynonym chronic metabolic polyneuropathy chronic metabolic polyneuropathy Chronic Metabolic Polyneuropathy NCIT:C35602 Chronic Metabolic Polyneuropathy chronic metabolic polyneuropathy NCIT:C35602 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy Of undetermined significance (MGUS) monoclonal gammopathy Of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy Of undetermined significance (MGUS) NCIT:C3996 -MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal gammopathy of undetermined significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 +MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance monoclonal gammopathy of undetermined significance (MGUS) NCIT:C3996 MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym MGUS NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MGUS NCIT:C3996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse intraductal papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis diffuse intraductal papillomatosis NCIT:C7364 @@ -29277,7 +28915,6 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor, benign a MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma Benign Localized Epithelial Mesothelioma NCIT:C3762 Adenomatoid Tumor benign localized epithelial mesothelioma NCIT:C3762 MONDO:0004231 spindle cell variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, spindle cell variant squamous cell breast carcinoma, spindle cell variant Squamous Cell Breast Carcinoma, Spindle Cell Variant NCIT:C40358 Breast Squamous Cell Carcinoma, Spindle Cell Variant squamous cell breast carcinoma, spindle cell variant NCIT:C40358 MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, large cell keratinizing variant squamous cell breast carcinoma, large cell keratinizing variant Squamous Cell Breast Carcinoma, Large Cell Keratinizing Variant NCIT:C40357 Breast Squamous Cell Carcinoma, Large Cell Keratinizing Variant squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357 -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma Pleomorphic rhabdomyosarcoma NCIT:C4258 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma Pleomorphic rhabdomyosarcoma NCIT:C7959 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma Childhood Anaplastic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma NCIT:C7959 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym pediatric pleomorphic rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma Pediatric Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma NCIT:C7959 @@ -29344,9 +28981,7 @@ MONDO:0004255 Wolffian adnexal tumor oio:hasExactSynonym Wolffian adnexal tumor MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym lumbar intraspinal meningioma lumbar intraspinal meningioma Lumbar Intraspinal Meningioma NCIT:C5298 Lumbar Intraspinal Meningioma lumbar intraspinal meningioma NCIT:C5298 MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of lumbar spinal canal and spinal cord meningioma of lumbar spinal canal and spinal cord Meningioma of Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma meningioma of lumbar spinal canal and spinal cord NCIT:C5298 MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of the lumbar spinal canal and spinal cord meningioma of the lumbar spinal canal and spinal cord Meningioma of the Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma meningioma of the lumbar spinal canal and spinal cord NCIT:C5298 -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C27402 MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C27403 -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor Central nervous system Mixed germ cell tumor NCIT:C7016 MONDO:0004258 female orgasmic disorder oio:hasExactSynonym female orgasmic disorder female orgasmic disorder Female Orgasmic Disorder NCIT:C34958 Female Orgasmic Disorder female orgasmic disorder NCIT:C34958 MONDO:0004261 periductal breast myoepitheliosis oio:hasExactSynonym periductal breast myoepitheliosis periductal breast myoepitheliosis Periductal Breast Myoepitheliosis NCIT:C40388 Breast Periductal Myoepitheliosis periductal breast myoepitheliosis NCIT:C40388 MONDO:0004262 breast myoepitheliosis oio:hasExactSynonym breast myoepitheliosis breast myoepitheliosis Breast Myoepitheliosis NCIT:C40385 Breast Myoepitheliosis breast myoepitheliosis NCIT:C40385 @@ -29355,8 +28990,8 @@ MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym chi MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym pediatric infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma Pediatric Infratentorial Ependymoblastoma NCIT:C6773 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered pediatric infratentorial ependymoblastoma NCIT:C6773 MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of the anal gland adenocarcinoma of the anal gland Adenocarcinoma of the Anal Gland NCIT:C5609 Anal Glands Adenocarcinoma adenocarcinoma of the anal gland NCIT:C5609 MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym anal glands adenocarcinoma anal glands adenocarcinoma Anal Glands Adenocarcinoma NCIT:C5609 Anal Glands Adenocarcinoma anal glands adenocarcinoma NCIT:C5609 -MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous Papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 +MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis squamous papillomatosis NCIT:C9009 MONDO:0004270 breast ductal adenoma oio:hasExactSynonym breast ductal adenoma breast ductal adenoma Breast Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma breast ductal adenoma NCIT:C40384 MONDO:0004270 breast ductal adenoma oio:hasExactSynonym ductal adenoma ductal adenoma Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma ductal adenoma NCIT:C40384 MONDO:0004271 pregnancy adenoma oio:hasExactSynonym Lactating adenoma Lactating adenoma Lactating Adenoma NCIT:C9473 Lactating Adenoma Lactating adenoma NCIT:C9473 @@ -29371,8 +29006,8 @@ MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym os MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osseous Paget's disease osteosarcoma arising in osseous Paget's disease Osteosarcoma Arising in Osseous Paget's Disease NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone osteosarcoma arising in osseous Paget's disease NCIT:C6469 MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osteitis deformans osteosarcoma arising in osteitis deformans Osteosarcoma Arising in Osteitis Deformans NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone osteosarcoma arising in osteitis deformans NCIT:C6469 MONDO:0004276 ceruminoma oio:hasExactSynonym adenoma, ceruminous gland, benign adenoma, ceruminous gland, benign ADENOMA, CERUMINOUS GLAND, BENIGN NCIT:C6088 Ceruminous Adenoma adenoma, ceruminous gland, benign NCIT:C6088 -MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 +MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma ceruminous adenoma NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of external auditory canal ceruminous adenoma of external auditory canal Ceruminous Adenoma of External Auditory Canal NCIT:C6088 Ceruminous Adenoma ceruminous adenoma of external auditory canal NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of the external auditory canal ceruminous adenoma of the external auditory canal Ceruminous Adenoma of the External Auditory Canal NCIT:C6088 Ceruminous Adenoma ceruminous adenoma of the external auditory canal NCIT:C6088 MONDO:0004276 ceruminoma oio:hasExactSynonym external auditory canal ceruminous adenoma external auditory canal ceruminous adenoma External Auditory Canal Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma external auditory canal ceruminous adenoma NCIT:C6088 @@ -29434,12 +29069,12 @@ MONDO:0004297 lymphoepithelioma-like thymic carcinoma oio:hasExactSynonym thymi MONDO:0004298 stomach disorder oio:hasExactSynonym stomach disorder stomach disorder Stomach Disorder NCIT:C26886 Stomach Disorder stomach disorder NCIT:C26886 MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma oio:hasExactSynonym infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder lymphoepithelioma-like carcinoma Infiltrating Bladder Lymphoepithelioma-Like Carcinoma NCIT:C39821 Invasive Bladder Lymphoepithelioma-Like Carcinoma infiltrating bladder lymphoepithelioma-like carcinoma NCIT:C39821 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteogenic sarcoma fibroblastic osteogenic sarcoma Fibroblastic Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteogenic sarcoma NCIT:C4020 -MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 +MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibroblastic osteosarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteogenic sarcoma fibrosarcomatous osteogenic sarcoma Fibrosarcomatous Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibrosarcomatous osteogenic sarcoma NCIT:C4020 MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteosarcoma fibrosarcomatous osteosarcoma Fibrosarcomatous Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma fibrosarcomatous osteosarcoma NCIT:C4020 -MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief Cell Adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 +MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid chief cell adenoma of parathyroid Chief Cell Adenoma of Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of parathyroid NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid gland chief cell adenoma of parathyroid gland Chief Cell Adenoma of Parathyroid Gland NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of parathyroid gland NCIT:C4154 MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of the parathyroid chief cell adenoma of the parathyroid Chief Cell Adenoma of the Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma chief cell adenoma of the parathyroid NCIT:C4154 @@ -29468,13 +29103,13 @@ MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid gla MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid oncocytic adenoma parathyroid oncocytic adenoma Parathyroid Oncocytic Adenoma NCIT:C27393 Parathyroid Gland Oncocytic Adenoma parathyroid oncocytic adenoma NCIT:C27393 MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood conventional osteosarcoma childhood conventional osteosarcoma Childhood Conventional Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma childhood conventional osteosarcoma NCIT:C6590 MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood intracortical osteosarcoma childhood intracortical osteosarcoma Childhood Intracortical Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma childhood intracortical osteosarcoma NCIT:C6590 -MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 +MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meningeal sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meninges sarcomatosis meninges sarcomatosis Meninges Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis meninges sarcomatosis NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of meninges sarcomatosis of meninges Sarcomatosis of Meninges NCIT:C4334 Meningeal Sarcomatosis sarcomatosis of meninges NCIT:C4334 MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of the meninges sarcomatosis of the meninges Sarcomatosis of the Meninges NCIT:C4334 Meningeal Sarcomatosis sarcomatosis of the meninges NCIT:C4334 -MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 +MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma meningeal sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meninges sarcoma meninges sarcoma Meninges Sarcoma NCIT:C4073 Meningeal Sarcoma meninges sarcoma NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of meninges sarcoma of meninges Sarcoma of Meninges NCIT:C4073 Meningeal Sarcoma sarcoma of meninges NCIT:C4073 MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of the meninges sarcoma of the meninges Sarcoma of the Meninges NCIT:C4073 Meningeal Sarcoma sarcoma of the meninges NCIT:C4073 @@ -29512,8 +29147,8 @@ MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym maxillary sinu MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia NCIT:C41251 MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia NCIT:C41251 MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic non-invasive intraductal papillary-mucinous carcinoma pancreatic non-invasive intraductal papillary-mucinous carcinoma Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade pancreatic non-invasive intraductal papillary-mucinous carcinoma NCIT:C41251 -MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 +MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma leptomeningeal sarcoma NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of leptomeninges sarcoma of leptomeninges Sarcoma of Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma sarcoma of leptomeninges NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of the leptomeninges sarcoma of the leptomeninges Sarcoma of the Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma sarcoma of the leptomeninges NCIT:C8312 MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma, leptomeningeal, malignant sarcoma, leptomeningeal, malignant SARCOMA, LEPTOMENINGEAL, MALIGNANT NCIT:C8312 Leptomeningeal Sarcoma sarcoma, leptomeningeal, malignant NCIT:C8312 @@ -29568,8 +29203,8 @@ MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym colloid carcinoma of the pancreas colloid carcinoma of the pancreas Colloid Carcinoma of the Pancreas NCIT:C37214 Pancreatic Colloid Carcinoma colloid carcinoma of the pancreas NCIT:C37214 MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym mucinous Noncystic carcinoma mucinous Noncystic carcinoma Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma mucinous Noncystic carcinoma NCIT:C37214 MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym pancreatic mucinous Noncystic carcinoma pancreatic mucinous Noncystic carcinoma Pancreatic Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma pancreatic mucinous Noncystic carcinoma NCIT:C37214 -MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 +MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of pancreas acinar cell cystadenocarcinoma of pancreas Acinar Cell Cystadenocarcinoma of Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma of pancreas NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of the pancreas acinar cell cystadenocarcinoma of the pancreas Acinar Cell Cystadenocarcinoma of the Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma acinar cell cystadenocarcinoma of the pancreas NCIT:C5727 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma Pancreatic Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma NCIT:C5727 @@ -29872,7 +29507,6 @@ MONDO:0004468 anal canal Paget disease oio:hasExactSynonym anal canal Paget's d MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym pseudovascular skin squamous cell carcinoma pseudovascular skin squamous cell carcinoma Pseudovascular Skin Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma pseudovascular skin squamous cell carcinoma NCIT:C27542 MONDO:0004471 bacterial arthritis oio:hasExactSynonym pyogenic arthritis pyogenic arthritis Pyogenic Arthritis NCIT:C26699 Bacterial Arthritis pyogenic arthritis NCIT:C26699 MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis septic arthritis NCIT:C26699 -MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis septic arthritis NCIT:C26700 MONDO:0004472 breast columnar cell mucinous carcinoma oio:hasExactSynonym breast columnar cell mucinous carcinoma breast columnar cell mucinous carcinoma Breast Columnar Cell Mucinous Carcinoma NCIT:C40355 Breast Columnar Cell Mucinous Carcinoma breast columnar cell mucinous carcinoma NCIT:C40355 MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic cancer epiglottic cancer Epiglottic Cancer NCIT:C35697 Epiglottic Carcinoma epiglottic cancer NCIT:C35697 MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic throat cancer epiglottic throat cancer Epiglottic Throat Cancer NCIT:C35697 Epiglottic Carcinoma epiglottic throat cancer NCIT:C35697 @@ -29946,12 +29580,12 @@ MONDO:0004507 atypical breast papilloma oio:hasExactSynonym atypical breast pap MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillary neoplasm intrahepatic bile duct papillary neoplasm Intrahepatic Bile Duct Papillary Neoplasm NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic bile duct papillary neoplasm NCIT:C7125 MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillomatosis intrahepatic bile duct papillomatosis Intrahepatic Bile Duct Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic bile duct papillomatosis NCIT:C7125 MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic biliary papillomatosis intrahepatic biliary papillomatosis Intrahepatic Biliary Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm intrahepatic biliary papillomatosis NCIT:C7125 -MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 +MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma inflammatory liposarcoma NCIT:C6508 MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of Lower clivus meningioma of Lower clivus Meningioma of Lower Clivus NCIT:C5288 Lower Clivus Meningioma meningioma of Lower clivus NCIT:C5288 MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of the lower clivus meningioma of the lower clivus Meningioma of the Lower Clivus NCIT:C5288 Lower Clivus Meningioma meningioma of the lower clivus NCIT:C5288 -MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 +MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis meningeal melanomatosis NCIT:C6891 MONDO:0004513 adult pleomorphic rhabdomyosarcoma oio:hasExactSynonym adult pleomorphic rhabdomyosarcoma adult pleomorphic rhabdomyosarcoma Adult Pleomorphic Rhabdomyosarcoma NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma adult pleomorphic rhabdomyosarcoma NCIT:C27369 MONDO:0004516 bulbomembranous urethral cancer oio:hasExactSynonym bulbomembranous urethral malignant neoplasm bulbomembranous urethral malignant neoplasm Bulbomembranous Urethral Malignant Neoplasm NCIT:C39869 Bulbomembranous Urethral Malignant Neoplasm bulbomembranous urethral malignant neoplasm NCIT:C39869 MONDO:0004518 anterior urethra cancer oio:hasExactSynonym anterior urethra malignant neoplasm anterior urethra malignant neoplasm Anterior Urethra Malignant Neoplasm NCIT:C7641 Anterior Urethral Malignant Neoplasm anterior urethra malignant neoplasm NCIT:C7641 @@ -29971,8 +29605,8 @@ MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym adult epithelioid s MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of skin clear cell squamous cell carcinoma of skin Clear Cell Squamous Cell Carcinoma of Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell carcinoma of skin NCIT:C4459 MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of the skin clear cell squamous cell carcinoma of the skin Clear Cell Squamous Cell Carcinoma of the Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell carcinoma of the skin NCIT:C4459 MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell skin carcinoma clear cell squamous cell skin carcinoma Clear Cell Squamous Cell Skin Carcinoma NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma clear cell squamous cell skin carcinoma NCIT:C4459 -MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical follicular adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 +MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential atypical follicular adenoma NCIT:C27729 MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym thyroid gland atypical follicular adenoma thyroid gland atypical follicular adenoma Thyroid Gland Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential thyroid gland atypical follicular adenoma NCIT:C27729 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym Stromomyoma NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm Stromomyoma NCIT:C40178 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym mixed endometrial stromal and smooth muscle neoplasm mixed endometrial stromal and smooth muscle neoplasm Mixed Endometrial Stromal and Smooth Muscle Neoplasm NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm mixed endometrial stromal and smooth muscle neoplasm NCIT:C40178 @@ -30003,8 +29637,8 @@ MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant neoplasm of MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of aorta malignant tumor of aorta Malignant Tumor of Aorta NCIT:C5375 Malignant Aortic Neoplasm malignant tumor of aorta NCIT:C5375 MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of the aorta malignant tumor of the aorta Malignant Tumor of the Aorta NCIT:C5375 Malignant Aortic Neoplasm malignant tumor of the aorta NCIT:C5375 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid MPNST epithelioid MPNST Epithelioid MPNST NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid MPNST NCIT:C6561 -MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid Malignant Peripheral Nerve Sheath Tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 +MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of peripheral nerve sheath malignant epithelioid neoplasm of peripheral nerve sheath Malignant Epithelioid Neoplasm of Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid neoplasm of peripheral nerve sheath NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of the peripheral nerve sheath malignant epithelioid neoplasm of the peripheral nerve sheath Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid neoplasm of the peripheral nerve sheath NCIT:C6561 MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid peripheral nerve sheath neoplasm malignant epithelioid peripheral nerve sheath neoplasm Malignant Epithelioid Peripheral Nerve Sheath Neoplasm NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor malignant epithelioid peripheral nerve sheath neoplasm NCIT:C6561 @@ -30105,15 +29739,12 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal neo MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal tumor malignant oropharyngeal tumor Malignant Oropharyngeal Tumor NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant oropharyngeal tumor NCIT:C7398 MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of oropharynx malignant tumor of oropharynx Malignant Tumor of Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant tumor of oropharynx NCIT:C7398 MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of the oropharynx malignant tumor of the oropharynx Malignant Tumor of the Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm malignant tumor of the oropharynx NCIT:C7398 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma cancer of oropharynx NCIT:C9105 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oropharyngeal cancer oropharyngeal cancer Oropharyngeal Cancer NCIT:C9105 Oropharyngeal Carcinoma oropharyngeal cancer NCIT:C9105 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of soft palate malignant neoplasm of soft palate Malignant Neoplasm of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant neoplasm of soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of the soft palate malignant neoplasm of the soft palate Malignant Neoplasm of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant neoplasm of the soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate neoplasm malignant soft palate neoplasm Malignant Soft Palate Neoplasm NCIT:C3529 Malignant Soft Palate Neoplasm malignant soft palate neoplasm NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate tumor malignant soft palate tumor Malignant Soft Palate Tumor NCIT:C3529 Malignant Soft Palate Neoplasm malignant soft palate tumor NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of soft palate malignant tumor of soft palate Malignant Tumor of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant tumor of soft palate NCIT:C3529 MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of the soft palate malignant tumor of the soft palate Malignant Tumor of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm malignant tumor of the soft palate NCIT:C3529 -MONDO:0004611 soft palate cancer oio:hasExactSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma soft palate cancer NCIT:C8395 MONDO:0004612 malignant histiocytosis oio:hasExactSynonym histiocytic medullary reticulosis histiocytic medullary reticulosis Histiocytic Medullary Reticulosis NCIT:C7202 Malignant Histiocytosis histiocytic medullary reticulosis NCIT:C7202 MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym acute intestinal ischemia acute intestinal ischemia Acute Intestinal Ischemia NCIT:C34356 Acute Intestinal Ischemia acute intestinal ischemia NCIT:C34356 MONDO:0004619 measles oio:hasExactSynonym rubeola infection rubeola infection Rubeola Infection NCIT:C96406 Measles rubeola infection NCIT:C96406 @@ -30185,10 +29816,10 @@ MONDO:0004643 myeloid leukemia oio:hasExactSynonym leukemia, granulocytic, mali MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelocytic leukemia myelocytic leukemia Myelocytic Leukemia NCIT:C3172 Myeloid Leukemia myelocytic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelogenous leukemia myelogenous leukemia Myelogenous Leukemia NCIT:C3172 Myeloid Leukemia myelogenous leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym myeloid leukemia myeloid leukemia Myeloid Leukemia NCIT:C3172 Myeloid Leukemia myeloid leukemia NCIT:C3172 -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphoblastic leukemia NCIT:C3172 MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia non-lymphocytic leukemia NCIT:C3172 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa neoplasm malignant buccal mucosa neoplasm Malignant Buccal Mucosa Neoplasm NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant buccal mucosa neoplasm NCIT:C9320 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa tumor malignant buccal mucosa tumor Malignant Buccal Mucosa Tumor NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant buccal mucosa tumor NCIT:C9320 MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant neoplasm of buccal mucosa malignant neoplasm of buccal mucosa Malignant Neoplasm of Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm malignant neoplasm of buccal mucosa NCIT:C9320 @@ -30207,12 +29838,12 @@ MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactS MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical CML atypical CML Atypical CML NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical CML NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia atypical chronic myeloid leukemia Atypical Chronic Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical chronic myeloid leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia, BCR-ABL1 Negative atypical chronic myeloid leukemia, BCR-ABL1 Negative Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative NCIT:C3519 Atypical Chronic Myeloid Leukemia atypical chronic myeloid leukemia, BCR-ABL1 Negative NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute granulocytic leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute granulocytic leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute Myelogenous Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myelogenous leukemia NCIT:C3519 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia subacute myeloid leukemia NCIT:C3519 MONDO:0004656 rubella oio:hasExactSynonym Rubella infection Rubella infection Rubella Infection NCIT:C85051 Rubella Infection Rubella infection NCIT:C85051 MONDO:0004656 rubella oio:hasExactSynonym german measles german measles German Measles NCIT:C85051 Rubella Infection german measles NCIT:C85051 MONDO:0004656 rubella oio:hasExactSynonym three-Day Measles three-Day Measles Three-Day Measles NCIT:C85051 Rubella Infection three-Day Measles NCIT:C85051 @@ -30275,7 +29906,6 @@ MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual gland tumor malignant sublingual gland tumor Malignant Sublingual Gland Tumor NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant sublingual gland tumor NCIT:C3527 MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of sublingual gland malignant tumor of sublingual gland Malignant Tumor of Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant tumor of sublingual gland NCIT:C3527 MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of the sublingual gland malignant tumor of the sublingual gland Malignant Tumor of the Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm malignant tumor of the sublingual gland NCIT:C3527 -MONDO:0004667 sublingual gland cancer oio:hasExactSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma sublingual gland cancer NCIT:C8397 MONDO:0004668 fascioliasis oio:hasExactSynonym Fasciolosis NCIT:C128387 Fasciolosis Fasciolosis NCIT:C128387 MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of salivary gland cancer of salivary gland Cancer of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm cancer of salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of the salivary gland cancer of the salivary gland Cancer of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm cancer of the salivary gland NCIT:C3811 @@ -30286,14 +29916,13 @@ MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant salivary glan MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of salivary gland malignant tumor of salivary gland Malignant Tumor of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm malignant tumor of salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of the salivary gland malignant tumor of the salivary gland Malignant Tumor of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm malignant tumor of the salivary gland NCIT:C3811 MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm salivary gland cancer NCIT:C3811 -MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma salivary gland cancer NCIT:C9272 MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus lupus Lupus NCIT:C27153 Lupus Erythematosus lupus NCIT:C27153 MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus erythematosus lupus erythematosus Lupus Erythematosus NCIT:C27153 Lupus Erythematosus lupus erythematosus NCIT:C27153 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen disease of the penis Bowen disease of the penis Bowen Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ Bowen disease of the penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of penis Bowen's disease of penis Bowen's Disease of Penis NCIT:C27790 Penile Carcinoma In Situ Bowen's disease of penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of the penis Bowen's disease of the penis Bowen's Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ Bowen's disease of the penis NCIT:C27790 -MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia Queyrat erythroplasia Queyrat Erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 +MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat's erythroplasia Queyrat's erythroplasia Queyrat's Erythroplasia NCIT:C27790 Penile Carcinoma In Situ Queyrat's erythroplasia NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of penis carcinoma in situ of penis Carcinoma in situ of Penis NCIT:C27790 Penile Carcinoma In Situ carcinoma in situ of penis NCIT:C27790 MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of the penis carcinoma in situ of the penis Carcinoma in situ of the Penis NCIT:C27790 Penile Carcinoma In Situ carcinoma in situ of the penis NCIT:C27790 @@ -30311,8 +29940,8 @@ MONDO:0004684 plantar fibromatosis oio:hasExactSynonym Ledderhose's disease Led MONDO:0004684 plantar fibromatosis oio:hasExactSynonym plantar fibromatosis plantar fibromatosis Plantar Fibromatosis NCIT:C4680 Plantar Fibromatosis plantar fibromatosis NCIT:C4680 MONDO:0004691 autosomal dominant polycystic kidney disease oio:hasExactSynonym autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease Autosomal Dominant Polycystic Kidney Disease NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL autosomal dominant polycystic kidney disease NCIT:C84578 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym carcinoma, squamous cell, in situ, malignant carcinoma, squamous cell, in situ, malignant CARCINOMA, SQUAMOUS CELL, IN SITU, MALIGNANT NCIT:C27093 Stage 0 Squamous Cell Carcinoma carcinoma, squamous cell, in situ, malignant NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma epidermoid cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade 3 SIN grade 3 SIN Grade 3 SIN NCIT:C27093 Stage 0 Squamous Cell Carcinoma grade 3 SIN NCIT:C27093 @@ -30321,10 +29950,10 @@ MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III SIN grad MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III squamous intraepithelial neoplasia grade III squamous intraepithelial neoplasia Grade III Squamous Intraepithelial Neoplasia NCIT:C27093 Stage 0 Squamous Cell Carcinoma grade III squamous intraepithelial neoplasia NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma intraepithelial squamous cell carcinoma NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial squamous cell carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma intraepithelial squamous cell carcinoma NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in-situ squamous cell carcinoma in-situ Squamous Cell Carcinoma in-situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous cell carcinoma in-situ NCIT:C27093 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym stage 0 squamous cell carcinoma stage 0 squamous cell carcinoma Stage 0 Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma stage 0 squamous cell carcinoma NCIT:C27093 MONDO:0004695 liver lymphoma oio:hasExactSynonym hepatic lymphoma hepatic lymphoma Hepatic Lymphoma NCIT:C4949 Liver Lymphoma hepatic lymphoma NCIT:C4949 @@ -30375,7 +30004,6 @@ MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of parot MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid malignant tumor of the parotid Malignant Tumor of the Parotid NCIT:C3525 Malignant Parotid Gland Neoplasm malignant tumor of the parotid NCIT:C3525 MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid gland malignant tumor of the parotid gland Malignant Tumor of the Parotid Gland NCIT:C3525 Malignant Parotid Gland Neoplasm malignant tumor of the parotid gland NCIT:C3525 MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm parotid gland cancer NCIT:C3525 -MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma parotid gland cancer NCIT:C6791 MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of the uterus polyp of the uterus Polyp of the Uterus NCIT:C3662 Uterine Polyp polyp of the uterus NCIT:C3662 MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of uterus polyp of uterus Polyp of Uterus NCIT:C3662 Uterine Polyp polyp of uterus NCIT:C3662 MONDO:0004701 uterine polyp oio:hasExactSynonym uterine polyp uterine polyp Uterine Polyp NCIT:C3662 Uterine Polyp uterine polyp NCIT:C3662 @@ -30540,9 +30168,9 @@ MONDO:0004767 vesiculitis oio:hasExactSynonym seminal vesicles seminal vesicles MONDO:0004770 exophthalmos oio:hasExactSynonym exophthalmos exophthalmos Exophthalmos NCIT:C118763 Exophthalmos exophthalmos NCIT:C118763 MONDO:0004773 iridocyclitis oio:hasExactSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis iridocyclitis NCIT:C34736 MONDO:0004779 epididymitis oio:hasExactSynonym epididymal epididymal Epididymal NCIT:C12328 Epididymis epididymal NCIT:C12328 -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis epididymis NCIT:C12328 MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis Epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis epididymis NCIT:C12328 +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis epididymis NCIT:C12328 MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Mullerian papilloma cervical Mullerian papilloma Cervical Mullerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma cervical Mullerian papilloma NCIT:C40215 MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Müllerian papilloma cervical Müllerian papilloma Cervical Müllerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma cervical Müllerian papilloma NCIT:C40215 MONDO:0004788 cervix squamous papilloma oio:hasExactSynonym cervical squamous papilloma cervical squamous papilloma Cervical Squamous Papilloma NCIT:C6342 Cervical Squamous Papilloma cervical squamous papilloma NCIT:C6342 @@ -30606,8 +30234,8 @@ MONDO:0004846 placental abruption oio:hasExactSynonym abruptio placentae abrupt MONDO:0004846 placental abruption oio:hasExactSynonym placental abruption placental abruption Placental Abruption NCIT:C26685 Placental Abruption placental abruption NCIT:C26685 MONDO:0004846 placental abruption oio:hasExactSynonym premature separation of placenta premature separation of placenta Premature Separation of Placenta NCIT:C26685 Placental Abruption premature separation of placenta NCIT:C26685 MONDO:0004848 ulcerative stomatitis oio:hasExactSynonym ulcerative stomatitis ulcerative stomatitis Ulcerative Stomatitis NCIT:C35039 Ulcerative Stomatitis ulcerative stomatitis NCIT:C35039 -MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema EMPHYSEMA NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 +MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema emphysema NCIT:C3348 MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym neonatal conjunctivitis neonatal conjunctivitis Neonatal Conjunctivitis NCIT:C116815 Ophthalmia Neonatorum neonatal conjunctivitis NCIT:C116815 MONDO:0004857 tendinitis oio:hasExactSynonym tendonitis tendonitis Tendonitis NCIT:C97141 Tendonitis tendonitis NCIT:C97141 MONDO:0004872 hemorrhoid oio:hasExactSynonym hemorrhoid hemorrhoid Hemorrhoid NCIT:C26792 Hemorrhoid hemorrhoid NCIT:C26792 @@ -30646,12 +30274,12 @@ MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell CL MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia B-Cell Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphoid leukemia B-cell chronic lymphoid leukemia B-Cell Chronic Lymphoid Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell chronic lymphoid leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell lymphocytic leukemia B-cell lymphocytic leukemia B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia B-cell lymphocytic leukemia NCIT:C3163 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic B-cell lymphocytic leukemia chronic B-cell lymphocytic leukemia Chronic B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic B-cell lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphatic leukemia chronic lymphatic leukemia Chronic lymphatic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphatic leukemia NCIT:C3163 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia (CLL) chronic lymphocytic leukemia (CLL) Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia chronic lymphocytic leukemia (CLL) NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym hematopoeitic - chronic lymphocytic leukemia (CLL) hematopoeitic - chronic lymphocytic leukemia (CLL) Hematopoeitic - Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia hematopoeitic - chronic lymphocytic leukemia (CLL) NCIT:C3163 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym BCLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BCLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -30667,8 +30295,6 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's Disease NCIT:C9 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's disease Hodgkin's disease Hodgkin's Disease NCIT:C9357 Hodgkin Lymphoma Hodgkin's disease NCIT:C9357 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's lymphoma Hodgkin's lymphoma Hodgkin's Lymphoma NCIT:C9357 Hodgkin Lymphoma Hodgkin's lymphoma NCIT:C9357 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym HL NCIT:C9357 Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HL NCIT:C9357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma ductal adenocarcinoma NCIT:C4017 -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma ductal adenocarcinoma NCIT:C4017 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal adenocarcinoma infiltrating ductal adenocarcinoma Infiltrating Ductal Adenocarcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal adenocarcinoma NCIT:C4194 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal breast carcinoma infiltrating ductal breast carcinoma Infiltrating Ductal Breast Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal breast carcinoma NCIT:C4194 MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal carcinoma infiltrating ductal carcinoma Infiltrating Ductal Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type infiltrating ductal carcinoma NCIT:C4194 @@ -30686,16 +30312,16 @@ MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym metastatic pros MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate cancer metastatic prostate cancer metastatic Prostate Cancer Metastatic NCIT:C8946 Metastatic Prostate Carcinoma prostate cancer metastatic NCIT:C8946 MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate carcinoma metastatic prostate carcinoma metastatic Prostate Carcinoma Metastatic NCIT:C8946 Metastatic Prostate Carcinoma prostate carcinoma metastatic NCIT:C8946 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym adenocarcinoma, mucinous, malignant adenocarcinoma, mucinous, malignant ADENOCARCINOMA, MUCINOUS, MALIGNANT NCIT:C26712 Mucinous Adenocarcinoma adenocarcinoma, mucinous, malignant NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid carcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid Carcinoma NCIT:C26712 Mucinous Adenocarcinoma colloid carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma gelatinous carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucinous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucoid adenocarcinoma mucoid adenocarcinoma Mucoid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucoid adenocarcinoma NCIT:C26712 @@ -30706,7 +30332,6 @@ MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma mucous adenocarcinoma Mucous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous adenocarcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous carcinoma NCIT:C26712 MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma mucous carcinoma NCIT:C26712 -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C5243 Ovarian Mucinous Adenocarcinoma mucinous carcinoma NCIT:C5243 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth scc mouth scc Mouth SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma mouth scc NCIT:C4833 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth squamous cell carcinoma mouth squamous cell carcinoma Mouth Squamous Cell Carcinoma NCIT:C4833 Oral Cavity Squamous Cell Carcinoma mouth squamous cell carcinoma NCIT:C4833 MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oral cavity scc oral cavity scc Oral Cavity SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma oral cavity scc NCIT:C4833 @@ -30722,8 +30347,8 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the oral cavity squamous cell carcinoma of the oral cavity Squamous Cell Carcinoma of the Oral Cavity NCIT:C4833 Oral Cavity Squamous Cell Carcinoma squamous cell carcinoma of the oral cavity NCIT:C4833 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell dyscrasia plasma cell dyscrasia Plasma Cell Dyscrasia NCIT:C4665 Plasma Cell Neoplasm plasma cell dyscrasia NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell neoplasm plasma cell neoplasm Plasma Cell Neoplasm NCIT:C4665 Plasma Cell Neoplasm plasma cell neoplasm NCIT:C4665 -MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma cell tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 +MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor, malignant plasma cell tumor, malignant PLASMA CELL TUMOR, MALIGNANT NCIT:C4665 Plasma Cell Neoplasm plasma cell tumor, malignant NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic neoplasm plasmacytic neoplasm Plasmacytic Neoplasm NCIT:C4665 Plasma Cell Neoplasm plasmacytic neoplasm NCIT:C4665 MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic tumor plasmacytic tumor Plasmacytic Tumor NCIT:C4665 Plasma Cell Neoplasm plasmacytic tumor NCIT:C4665 @@ -30739,16 +30364,14 @@ MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-c MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-cell lymphocytic leukemia acute T-cell lymphocytic leukemia Acute T-Cell Lymphocytic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia acute T-cell lymphocytic leukemia NCIT:C3183 MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym precursor T-lymphoblastic leukemia precursor T-lymphoblastic leukemia Precursor T-Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia precursor T-lymphoblastic leukemia NCIT:C3183 MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T-ALL NCIT:C3183 T Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION T-ALL NCIT:C3183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia T acute lymphoblastic leukemia NCIT:C7953 -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia T acute lymphoblastic leukemia NCIT:C9142 MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-Cell Lymphoma, Not Otherwise Specified NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified peripheral T-cell lymphoma, not otherwise specified NCIT:C4340 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar adenocarcinoma NCIT:C3768 -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell adenocarcinoma acinar cell adenocarcinoma Acinar Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell adenocarcinoma NCIT:C3768 -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma acinar cell carcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic cell adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell adenocarcinoma NCIT:C3768 MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell carcinoma acinic cell carcinoma Acinic Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma acinic cell carcinoma NCIT:C3768 @@ -30756,33 +30379,26 @@ MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym carcinoma, acinar cell, MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis NCIT:C26780 Gastritis gastritis NCIT:C26780 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL - acute lymphocytic leukemia ALL - acute lymphocytic leukemia ALL - Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia ALL - acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia acute lymphoblastic leukemia Acute Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia NCIT:C3167 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute lymphocytic leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemias acute lymphocytic leukemias Acute Lymphocytic Leukemias NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphocytic leukemias NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphogenous leukemia acute lymphogenous leukemia Acute Lymphogenous Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphogenous leukemia NCIT:C3167 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute Lymphoid Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia acute lymphoid leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym leukemia, lymphoblastic, malignant leukemia, lymphoblastic, malignant LEUKEMIA, LYMPHOBLASTIC, MALIGNANT NCIT:C3167 Acute Lymphoblastic Leukemia leukemia, lymphoblastic, malignant NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor Lymphoblasic leukemia precursor Lymphoblasic leukemia Precursor Lymphoblasic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor Lymphoblasic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor cell lymphoblastic leukemia precursor cell lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor cell lymphoblastic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor lymphoblastic leukemia precursor lymphoblastic leukemia Precursor Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia precursor lymphoblastic leukemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukaemia acute lymphocytic leukaemia Acute Lymphocytic Leukaemia NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute lymphocytic leukaemia NCIT:C3167 MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALL NCIT:C3167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C3168 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma adenocarcinoma NCIT:C27813 MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C2852 Adenocarcinoma adenocarcinoma NCIT:C2852 MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma, malignant adenocarcinoma, malignant ADENOCARCINOMA, MALIGNANT NCIT:C2852 Adenocarcinoma adenocarcinoma, malignant NCIT:C2852 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma adenocarcinoma NCIT:C3512 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4004 Gastric Adenocarcinoma adenocarcinoma NCIT:C4004 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma adenocarcinoma NCIT:C4025 -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma adenocarcinoma NCIT:C4029 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenocystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma adenoid cystic carcinoma NCIT:C2970 MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym cylindroid adenocarcinoma cylindroid adenocarcinoma Cylindroid Adenocarcinoma NCIT:C2970 Adenoid Cystic Carcinoma cylindroid adenocarcinoma NCIT:C2970 MONDO:0004972 adenoma oio:hasExactSynonym adenoma adenoma Adenoma NCIT:C2855 Adenoma adenoma NCIT:C2855 MONDO:0004973 adenosquamous lung carcinoma oio:hasExactSynonym adenosquamous cell lung carcinoma adenosquamous cell lung carcinoma Adenosquamous Cell Lung Carcinoma NCIT:C9133 Lung Adenosquamous Carcinoma adenosquamous cell lung carcinoma NCIT:C9133 @@ -30802,8 +30418,8 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym chromaffin par MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym PCC NCIT:C3326 Adrenal Gland Pheochromocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCC NCIT:C3326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease Alzheimer disease Alzheimer Disease NCIT:C2866 Alzheimer's Disease Alzheimer disease NCIT:C2866 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's dementia Alzheimer's dementia Alzheimer's Dementia NCIT:C2866 Alzheimer's Disease Alzheimer's dementia NCIT:C2866 -MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 +MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease Alzheimer's disease NCIT:C2866 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease Lou Gehrig disease Lou Gehrig Disease NCIT:C34373 Amyotrophic Lateral Sclerosis Lou Gehrig disease NCIT:C34373 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL amyotrophic lateral sclerosis NCIT:C34373 MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS NCIT:C34373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -30854,7 +30470,6 @@ MONDO:0004989 breast carcinoma oio:hasExactSynonym breast carcinoma breast carc MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of breast carcinoma of breast Carcinoma of Breast NCIT:C4872 Breast Carcinoma carcinoma of breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of the breast carcinoma of the breast Carcinoma of the Breast NCIT:C4872 Breast Carcinoma carcinoma of the breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym mammary carcinoma mammary carcinoma Mammary Carcinoma NCIT:C4872 Breast Carcinoma mammary carcinoma NCIT:C4872 -MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ bronchioloalveolar carcinoma NCIT:C136486 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of lung bronchioalveolar adenocarcinoma of lung Bronchioalveolar Adenocarcinoma of Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar adenocarcinoma of lung NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of the lung bronchioalveolar adenocarcinoma of the lung Bronchioalveolar Adenocarcinoma of the Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar adenocarcinoma of the lung NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar lung carcinoma bronchioalveolar lung carcinoma Bronchioalveolar Lung Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma bronchioalveolar lung carcinoma NCIT:C2923 @@ -30868,7 +30483,6 @@ MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronch MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym carcinoma, bronchioloalveolar, malignant carcinoma, bronchioloalveolar, malignant CARCINOMA, BRONCHIOLOALVEOLAR, MALIGNANT NCIT:C2923 Minimally Invasive Lung Adenocarcinoma carcinoma, bronchioloalveolar, malignant NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym minimally invasive lung adenocarcinoma minimally invasive lung adenocarcinoma Minimally Invasive Lung Adenocarcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma minimally invasive lung adenocarcinoma NCIT:C2923 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym BAC bac BAC NCIT:C2923 Minimally Invasive Lung Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION BAC NCIT:C2923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004992 cancer oio:hasExactSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm malignant neoplasm NCIT:C4005 MONDO:0004992 cancer oio:hasExactSynonym cancer cancer Cancer NCIT:C9305 Malignant Neoplasm cancer NCIT:C9305 MONDO:0004992 cancer oio:hasExactSynonym malignancy malignancy Malignancy NCIT:C9305 Malignant Neoplasm malignancy NCIT:C9305 MONDO:0004992 cancer oio:hasExactSynonym malignant growth malignant growth Malignant Growth NCIT:C9305 Malignant Neoplasm malignant growth NCIT:C9305 @@ -30886,8 +30500,8 @@ MONDO:0004993 carcinoma oio:hasExactSynonym epithelioma malignant epithelioma m MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial neoplasm malignant epithelial neoplasm Malignant Epithelial Neoplasm NCIT:C2916 Carcinoma malignant epithelial neoplasm NCIT:C2916 MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial tumor malignant epithelial tumor Malignant Epithelial Tumor NCIT:C2916 Carcinoma malignant epithelial tumor NCIT:C2916 MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelioma malignant epithelioma Malignant Epithelioma NCIT:C2916 Carcinoma malignant epithelioma NCIT:C2916 -MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy CARDIOMYOPATHY NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 +MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy cardiomyopathy NCIT:C34830 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease cardiovascular disease Cardiovascular Disease NCIT:C2931 Cardiovascular Disorder cardiovascular disease NCIT:C2931 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease (CVD) cardiovascular disease (CVD) Cardiovascular Disease (CVD) NCIT:C2931 Cardiovascular Disorder cardiovascular disease (CVD) NCIT:C2931 MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disorder cardiovascular disorder Cardiovascular Disorder NCIT:C2931 Cardiovascular Disorder cardiovascular disorder NCIT:C2931 @@ -30928,8 +30542,8 @@ MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor Graw MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood clear cell sarcoma of the kidney childhood clear cell sarcoma of the kidney Childhood Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood clear cell sarcoma of the kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood kidney clear cell sarcoma childhood kidney clear cell sarcoma Childhood Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood kidney clear cell sarcoma NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood renal clear cell sarcoma childhood renal clear cell sarcoma Childhood Renal Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney childhood renal clear cell sarcoma NCIT:C4264 -MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear Cell Sarcoma of Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 +MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of the kidney clear cell sarcoma of the kidney Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney clear cell sarcoma of the kidney NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym kidney clear cell sarcoma kidney clear cell sarcoma Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney kidney clear cell sarcoma NCIT:C4264 MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym pediatric kidney clear cell sarcoma pediatric kidney clear cell sarcoma Pediatric Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney pediatric kidney clear cell sarcoma NCIT:C4264 @@ -30984,7 +30598,6 @@ MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes mellitus Diabetes Mellitus NCIT:C2985 Diabetes Mellitus diabetes mellitus NCIT:C2985 MONDO:0005015 diabetes mellitus oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005016 diabetic kidney disease oio:hasExactSynonym diabetic nephropathy diabetic nephropathy Diabetic Nephropathy NCIT:C84417 Diabetic Nephropathy diabetic nephropathy NCIT:C84417 -MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym carcinoma, diffuse type carcinoma, diffuse type Carcinoma, diffuse type NCIT:C4127 Diffuse Type Adenocarcinoma carcinoma, diffuse type NCIT:C4127 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of linitis plastica type adenocarcinoma of linitis plastica type Adenocarcinoma of Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma adenocarcinoma of linitis plastica type NCIT:C9159 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of the linitis plastica type adenocarcinoma of the linitis plastica type Adenocarcinoma of the Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma adenocarcinoma of the linitis plastica type NCIT:C9159 MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym diffuse adenocarcinoma of stomach diffuse adenocarcinoma of stomach Diffuse Adenocarcinoma of Stomach NCIT:C9159 Gastric Diffuse Adenocarcinoma diffuse adenocarcinoma of stomach NCIT:C9159 @@ -31035,8 +30648,8 @@ MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym adenocarcinoma of t MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophageal adenocarcinoma esophageal adenocarcinoma Esophageal Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma esophageal adenocarcinoma NCIT:C4025 MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophagus adenocarcinoma esophagus adenocarcinoma Esophagus Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma esophagus adenocarcinoma NCIT:C4025 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytemia essential thrombocytemia Essential Thrombocytemia NCIT:C3407 Essential Thrombocythemia essential thrombocytemia NCIT:C3407 -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential Thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia essential thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytosis essential thrombocytosis Essential Thrombocytosis NCIT:C3407 Essential Thrombocythemia essential thrombocytosis NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocythemia primary thrombocythemia Primary Thrombocythemia NCIT:C3407 Essential Thrombocythemia primary thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocytosis primary thrombocytosis Primary Thrombocytosis NCIT:C3407 Essential Thrombocythemia primary thrombocytosis NCIT:C3407 @@ -31054,8 +30667,8 @@ MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of the thy MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid adenoma of thyroid Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma of thyroid NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid gland adenoma of thyroid gland Adenoma of Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma of thyroid gland NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma, follicular cell, benign adenoma, follicular cell, benign ADENOMA, FOLLICULAR CELL, BENIGN NCIT:C3502 Thyroid Gland Follicular Adenoma adenoma, follicular cell, benign NCIT:C3502 -MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular Adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 +MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid follicular adenoma of the thyroid Follicular Adenoma of the Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of the thyroid NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid gland follicular adenoma of the thyroid gland Follicular Adenoma of the Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of the thyroid gland NCIT:C3502 MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of thyroid follicular adenoma of thyroid Follicular Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma follicular adenoma of thyroid NCIT:C3502 @@ -31098,14 +30711,12 @@ MONDO:0005039 reproductive system disorder oio:hasExactSynonym disorder of repr MONDO:0005039 reproductive system disorder oio:hasExactSynonym genital disorders genital disorders Genital Disorders NCIT:C4875 Reproductive System Disorder genital disorders NCIT:C4875 MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disease reproductive system disease Reproductive System Disease NCIT:C4875 Reproductive System Disorder reproductive system disease NCIT:C4875 MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disorder reproductive system disorder Reproductive System Disorder NCIT:C4875 Reproductive System Disorder reproductive system disorder NCIT:C4875 -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor germ cell tumor NCIT:C114777 MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell neoplasm germ cell neoplasm Germ Cell Neoplasm NCIT:C3708 Germ Cell Tumor germ cell neoplasm NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor germ cell tumor NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of germ cell neoplasm of germ cell Neoplasm of Germ Cell NCIT:C3708 Germ Cell Tumor neoplasm of germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of the germ cell neoplasm of the germ cell Neoplasm of the Germ Cell NCIT:C3708 Germ Cell Tumor neoplasm of the germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of germ cell tumor of germ cell Tumor of Germ Cell NCIT:C3708 Germ Cell Tumor tumor of germ cell NCIT:C3708 MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of the germ cell tumor of the germ cell Tumor of the Germ Cell NCIT:C3708 Germ Cell Tumor tumor of the germ cell NCIT:C3708 -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor germ cell tumor NCIT:C7928 MONDO:0005041 glaucoma oio:hasExactSynonym glaucoma glaucoma Glaucoma NCIT:C26782 Glaucoma glaucoma NCIT:C26782 MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia HYPERPLASIA NCIT:C3113 Hyperplasia hyperplasia NCIT:C3113 MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia Hyperplasia NCIT:C3113 Hyperplasia hyperplasia NCIT:C3113 @@ -31145,19 +30756,17 @@ MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltratin MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltrating lobular carcinoma of the breast infiltrating lobular carcinoma of the breast Infiltrating Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma infiltrating lobular carcinoma of the breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular adenocarcinoma invasive lobular adenocarcinoma Invasive Lobular Adenocarcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular adenocarcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular breast carcinoma invasive lobular breast carcinoma Invasive Lobular Breast Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular breast carcinoma NCIT:C7950 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive Lobular Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 +MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of breast invasive lobular carcinoma of breast Invasive Lobular Carcinoma of Breast NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma of breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of the breast invasive lobular carcinoma of the breast Invasive Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma of the breast NCIT:C7950 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma, classic type invasive lobular carcinoma, classic type Invasive Lobular Carcinoma, Classic Type NCIT:C7950 Invasive Breast Lobular Carcinoma invasive lobular carcinoma, classic type NCIT:C7950 -MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBD NCIT:C3138 Inflammatory Bowel Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD NCIT:C3138 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym irritable bowel syndrome irritable bowel syndrome Irritable Bowel Syndrome NCIT:C82343 Irritable Bowel Syndrome irritable bowel syndrome NCIT:C82343 MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi's sarcoma Kaposi's sarcoma Kaposi's Sarcoma NCIT:C9087 Kaposi Sarcoma Kaposi's sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym KS NCIT:C9087 Kaposi Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KS NCIT:C9087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, keratinizing squamous cell carcinoma, keratinizing Squamous Cell Carcinoma, Keratinizing NCIT:C40187 Cervical Keratinizing Squamous Cell Carcinoma squamous cell carcinoma, keratinizing NCIT:C40187 MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma Keratinizing Squamous Cell Carcinoma NCIT:C4105 Keratinizing Squamous Cell Carcinoma keratinizing squamous cell carcinoma NCIT:C4105 MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell NEC large cell NEC Large Cell NEC NCIT:C6875 Large Cell Neuroendocrine Carcinoma large cell NEC NCIT:C6875 MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large Cell Neuroendocrine Carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma large cell neuroendocrine carcinoma NCIT:C6875 @@ -31173,11 +30782,8 @@ MONDO:0005059 leukemia oio:hasExactSynonym leukemia, disease leukemia, disease MONDO:0005059 leukemia oio:hasExactSynonym leukemia, malignant leukemia, malignant LEUKEMIA, MALIGNANT NCIT:C3161 Leukemia leukemia, malignant NCIT:C3161 MONDO:0005059 leukemia oio:hasExactSynonym leukemias leukemias Leukemias NCIT:C3161 Leukemia leukemias NCIT:C3161 MONDO:0005059 leukemia oio:hasExactSynonym leukemias, general leukemias, general Leukemias, General NCIT:C3161 Leukemia leukemias, general NCIT:C3161 -MONDO:0005059 leukemia oio:hasExactSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia leukemia NCIT:C4989 MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma liposarcoma NCIT:C3194 MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma, malignant liposarcoma, malignant LIPOSARCOMA, MALIGNANT NCIT:C3194 Liposarcoma liposarcoma, malignant NCIT:C3194 -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma liposarcoma NCIT:C7811 -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma liposarcoma NCIT:C8091 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of lung adenocarcinoma of lung Adenocarcinoma of Lung NCIT:C3512 Lung Adenocarcinoma adenocarcinoma of lung NCIT:C3512 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of the lung adenocarcinoma of the lung Adenocarcinoma of the Lung NCIT:C3512 Lung Adenocarcinoma adenocarcinoma of the lung NCIT:C3512 MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym lung adenocarcinoma lung adenocarcinoma Lung Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma lung adenocarcinoma NCIT:C3512 @@ -31187,8 +30793,6 @@ MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma (Hodgkin's and non-Hodgkin' MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma, malignant lymphoma, malignant LYMPHOMA, MALIGNANT NCIT:C3208 Lymphoma lymphoma, malignant NCIT:C3208 MONDO:0005062 lymphoma oio:hasExactSynonym lymphomatous lymphomatous Lymphomatous NCIT:C3208 Lymphoma lymphomatous NCIT:C3208 MONDO:0005062 lymphoma oio:hasExactSynonym malignant lymphoma malignant lymphoma Malignant Lymphoma NCIT:C3208 Lymphoma malignant lymphoma NCIT:C3208 -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma lymphoma NCIT:C5165 -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma lymphoma NCIT:C7587 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of breast infiltrating medullary carcinoma of breast Infiltrating Medullary Carcinoma of Breast NCIT:C9119 Breast Medullary Carcinoma infiltrating medullary carcinoma of breast NCIT:C9119 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of the breast infiltrating medullary carcinoma of the breast Infiltrating Medullary Carcinoma of the Breast NCIT:C9119 Breast Medullary Carcinoma infiltrating medullary carcinoma of the breast NCIT:C9119 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym invasive medullary breast carcinoma invasive medullary breast carcinoma Invasive Medullary Breast Carcinoma NCIT:C9119 Breast Medullary Carcinoma invasive medullary breast carcinoma NCIT:C9119 @@ -31212,15 +30816,14 @@ MONDO:0005070 neoplasm oio:hasExactSynonym neoplasia neoplasia Neoplasia NCIT:C MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C3262 Neoplasm neoplasm NCIT:C3262 MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic disease neoplastic disease Neoplastic Disease NCIT:C3262 Neoplasm neoplastic disease NCIT:C3262 MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic growth neoplastic growth Neoplastic Growth NCIT:C3262 Neoplasm neoplastic growth NCIT:C3262 -MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C6283 Childhood Neoplasm neoplasm NCIT:C6283 MONDO:0005071 nervous system disorder oio:hasExactSynonym disorder of nervous system disorder of nervous system Disorder of Nervous System NCIT:C26835 Nervous System Disorder disorder of nervous system NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym nervous system disorder nervous system disorder Nervous System Disorder NCIT:C26835 Nervous System Disorder nervous system disorder NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym neurologic disorder neurologic disorder Neurologic Disorder NCIT:C26835 Nervous System Disorder neurologic disorder NCIT:C26835 MONDO:0005071 nervous system disorder oio:hasExactSynonym neurological disorder neurological disorder Neurological Disorder NCIT:C26835 Nervous System Disorder neurological disorder NCIT:C26835 MONDO:0005072 neuroblastoma oio:hasExactSynonym neural Crest tumor, malignant neural Crest tumor, malignant Neural Crest Tumor, Malignant NCIT:C3270 Neuroblastoma neural Crest tumor, malignant NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma neuroblastoma Neuroblastoma NCIT:C3270 Neuroblastoma neuroblastoma NCIT:C3270 -MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-Poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 +MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma, malignant neuroblastoma, malignant NEUROBLASTOMA, MALIGNANT NCIT:C3270 Neuroblastoma neuroblastoma, malignant NCIT:C3270 MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic nevus NCIT:C7570 Melanocytic Nevus melanocytic Nevus NCIT:C7570 MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic Nevus NCIT:C7570 Melanocytic Nevus melanocytic Nevus NCIT:C7570 @@ -31235,8 +30838,8 @@ MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary c MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary cancer of thyroid gland papillary cancer of thyroid gland Papillary Cancer of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary cancer of thyroid gland NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid papillary carcinoma of the thyroid Papillary Carcinoma of the Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of the thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid gland papillary carcinoma of the thyroid gland Papillary Carcinoma of the Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of the thyroid gland NCIT:C4035 -MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary Carcinoma of Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 +MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid gland papillary carcinoma of thyroid gland Papillary Carcinoma of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary carcinoma of thyroid gland NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid cancer papillary thyroid cancer Papillary Thyroid Cancer NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary thyroid cancer NCIT:C4035 MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid carcinoma papillary thyroid carcinoma Papillary Thyroid Carcinoma NCIT:C4035 Thyroid Gland Papillary Carcinoma papillary thyroid carcinoma NCIT:C4035 @@ -31266,18 +30869,15 @@ MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma of the soft tissue and bone s MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma, malignant sarcoma, malignant SARCOMA, MALIGNANT NCIT:C9118 Sarcoma sarcoma, malignant NCIT:C9118 MONDO:0005090 schizophrenia oio:hasExactSynonym schizophrenia schizophrenia Schizophrenia NCIT:C3362 Schizophrenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizophrenia NCIT:C3362 MONDO:0005091 severe acute respiratory syndrome oio:hasExactSynonym SARS NCIT:C85064 Severe Acute Respiratory Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SARS NCIT:C85064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet Ring Cell Adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 +MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell adenocarcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet Ring Cell Carcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C3774 MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C3774 Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C3774 -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C5720 Pancreatic Signet Ring Cell Carcinoma signet ring cell carcinoma NCIT:C5720 MONDO:0005093 skin disorder oio:hasExactSynonym cutaneous disorder cutaneous disorder Cutaneous Disorder NCIT:C3371 Skin Disorder cutaneous disorder NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym disorder of skin disorder of skin Disorder of Skin NCIT:C3371 Skin Disorder disorder of skin NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym skin diseases and manifestations skin diseases and manifestations Skin Diseases and Manifestations NCIT:C3371 Skin Disorder skin diseases and manifestations NCIT:C3371 MONDO:0005093 skin disorder oio:hasExactSynonym skin disorder skin disorder Skin Disorder NCIT:C3371 Skin Disorder skin disorder NCIT:C3371 MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma hemangiopericytoma NCIT:C3087 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma hemangiopericytoma NCIT:C50401 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor hemangiopericytoma NCIT:C7634 MONDO:0005095 spondyloarthropathy oio:hasExactSynonym seronegative spondyloarthropathy seronegative spondyloarthropathy Seronegative Spondyloarthropathy NCIT:C116778 Spondyloarthritis seronegative spondyloarthropathy NCIT:C116778 MONDO:0005095 spondyloarthropathy oio:hasExactSynonym spondyloarthritis spondyloarthritis Spondyloarthritis NCIT:C116778 Spondyloarthritis spondyloarthritis NCIT:C116778 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym carcinoma, squamous cell, malignant carcinoma, squamous cell, malignant CARCINOMA, SQUAMOUS CELL, MALIGNANT NCIT:C2929 Squamous Cell Carcinoma carcinoma, squamous cell, malignant NCIT:C2929 @@ -31287,8 +30887,8 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid cell tumor malignant epidermoid cell tumor Malignant Epidermoid Cell Tumor NCIT:C2929 Squamous Cell Carcinoma malignant epidermoid cell tumor NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell neoplasm malignant squamous cell neoplasm Malignant Squamous Cell Neoplasm NCIT:C2929 Squamous Cell Carcinoma malignant squamous cell neoplasm NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell tumor malignant squamous cell tumor Malignant Squamous Cell Tumor NCIT:C2929 Squamous Cell Carcinoma malignant squamous cell tumor NCIT:C2929 -MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 +MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell cancer squamous cell cancer Squamous Cell Cancer NCIT:C2929 Squamous Cell Carcinoma squamous cell cancer NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma squamous cell carcinoma Squamous Cell Carcinoma NCIT:C2929 Squamous Cell Carcinoma squamous cell carcinoma NCIT:C2929 MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous Cell Epithelioma NCIT:C2929 Squamous Cell Carcinoma squamous cell epithelioma NCIT:C2929 @@ -31316,19 +30916,18 @@ MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic scleroderma syste MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic sclerosis systemic sclerosis Systemic Sclerosis NCIT:C72070 Systemic Scleroderma systemic sclerosis NCIT:C72070 MONDO:0005101 ulcerative colitis oio:hasExactSynonym colitis ulcerative colitis ulcerative Colitis Ulcerative NCIT:C2952 Ulcerative Colitis colitis ulcerative NCIT:C2952 MONDO:0005101 ulcerative colitis oio:hasExactSynonym ulcerative colitis ulcerative colitis Ulcerative Colitis NCIT:C2952 Ulcerative Colitis ulcerative colitis NCIT:C2952 -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma (undifferentiated sarcoma) Embryonal Sarcoma (Undifferentiated Sarcoma) NCIT:C27096 Liver Embryonal Sarcoma embryonal sarcoma (undifferentiated sarcoma) NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated (embryonal) sarcoma undifferentiated (embryonal) sarcoma Undifferentiated (Embryonal) Sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated (embryonal) sarcoma NCIT:C27096 -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated Sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma undifferentiated sarcoma NCIT:C27096 MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym UES NCIT:C27096 Liver Embryonal Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION UES NCIT:C27096 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005105 melanoma oio:hasExactSynonym malignant melanoma malignant melanoma Malignant Melanoma NCIT:C3224 Melanoma malignant melanoma NCIT:C3224 MONDO:0005105 melanoma oio:hasExactSynonym melanoma melanoma Melanoma NCIT:C3224 Melanoma melanoma NCIT:C3224 MONDO:0005105 melanoma oio:hasExactSynonym melanoma, malignant melanoma, malignant MELANOMA, MALIGNANT NCIT:C3224 Melanoma melanoma, malignant NCIT:C3224 MONDO:0005106 lipoma oio:hasExactSynonym lipoma lipoma Lipoma NCIT:C3192 Lipoma lipoma NCIT:C3192 MONDO:0005106 lipoma oio:hasExactSynonym lipoma, benign lipoma, benign LIPOMA, BENIGN NCIT:C3192 Lipoma lipoma, benign NCIT:C3192 -MONDO:0005106 lipoma oio:hasExactSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm benign tumor of adipose tissue NCIT:C4502 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disease viral disease Viral Disease NCIT:C3439 Viral Infection viral disease NCIT:C3439 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disorder viral disorder Viral Disorder NCIT:C3439 Viral Infection viral disorder NCIT:C3439 MONDO:0005108 viral infectious disease oio:hasExactSynonym viral infection viral infection Viral Infection NCIT:C3439 Viral Infection viral infection NCIT:C3439 @@ -31385,8 +30984,8 @@ MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym immune mediated diab MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type 1 diabetes type 1 diabetes Type 1 Diabetes NCIT:C2986 Type 1 Diabetes Mellitus type 1 diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I Diabetes NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I diabetes NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes NCIT:C2986 -MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 +MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus type I diabetes mellitus NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym insulin dependent diabetes insulin dependent diabetes Insulin Dependent Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED insulin dependent diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym juvenile diabetes juvenile diabetes Juvenile Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED juvenile diabetes NCIT:C2986 MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym IDDM NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED IDDM NCIT:C2986 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -31425,10 +31024,9 @@ MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym cervix uteri adenocar MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym uterine cervix adenocarcinoma uterine cervix adenocarcinoma Uterine Cervix Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma uterine cervix adenocarcinoma NCIT:C4029 MONDO:0005154 liver disorder oio:hasExactSynonym hepatic disorder hepatic disorder Hepatic Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder hepatic disorder NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver and intrahepatic bile duct disorder liver and intrahepatic bile duct disorder Liver and Intrahepatic Bile Duct Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver and intrahepatic bile duct disorder NCIT:C3196 -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 +MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disease NCIT:C3196 MONDO:0005154 liver disorder oio:hasExactSynonym liver disorder liver disorder Liver Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder liver disorder NCIT:C3196 -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3959 Hepatobiliary Disorder liver disease NCIT:C3959 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym cirrhosis cirrhosis Cirrhosis NCIT:C2951 Cirrhosis cirrhosis NCIT:C2951 MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell neoplasm lymphocytic and plasma cell neoplasm Lymphocytic and Plasma Cell Neoplasm NCIT:C7065 Lymphocytic Neoplasm lymphocytic and plasma cell neoplasm NCIT:C7065 MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell tumor lymphocytic and plasma cell tumor Lymphocytic and Plasma Cell Tumor NCIT:C7065 Lymphocytic Neoplasm lymphocytic and plasma cell tumor NCIT:C7065 @@ -31451,8 +31049,6 @@ MONDO:0005161 human papilloma virus infection oio:hasExactSynonym Human papillo MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma fibrosarcoma NCIT:C3043 MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma, malignant fibrosarcoma, malignant FIBROSARCOMA, MALIGNANT NCIT:C3043 Fibrosarcoma fibrosarcoma, malignant NCIT:C3043 MONDO:0005164 fibrosarcoma oio:hasExactSynonym malignant fibromatous neoplasm malignant fibromatous neoplasm Malignant Fibromatous Neoplasm NCIT:C3043 Fibrosarcoma malignant fibromatous neoplasm NCIT:C3043 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma fibrosarcoma NCIT:C7809 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma fibrosarcoma NCIT:C8088 MONDO:0005165 benign neoplasm oio:hasExactSynonym benign neoplasm benign neoplasm Benign Neoplasm NCIT:C3677 Benign Neoplasm benign neoplasm NCIT:C3677 MONDO:0005166 osteoma oio:hasExactSynonym osteoma osteoma Osteoma NCIT:C3296 Osteoma osteoma NCIT:C3296 MONDO:0005166 osteoma oio:hasExactSynonym osteoma, benign osteoma, benign OSTEOMA, BENIGN NCIT:C3296 Osteoma osteoma, benign NCIT:C3296 @@ -31465,8 +31061,8 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic (solar) keratosis a MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic keratosis actinic keratosis Actinic Keratosis NCIT:C3148 Actinic Keratosis actinic keratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym solar keratosis solar keratosis Solar Keratosis NCIT:C3148 Actinic Keratosis solar keratosis NCIT:C3148 MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystadenoma serous cystadenoma Serous Cystadenoma NCIT:C3783 Serous Cystadenoma serous cystadenoma NCIT:C3783 -MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous Cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 +MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma serous cystoma NCIT:C3783 MONDO:0005178 osteoarthritis oio:hasExactSynonym degenerative joint disease degenerative joint disease DEGENERATIVE JOINT DISEASE NCIT:C3293 Osteoarthritis degenerative joint disease NCIT:C3293 MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson's disease Parkinson's disease Parkinson's Disease NCIT:C26845 Parkinson Disease Parkinson's disease NCIT:C26845 MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease Parkinson disease Parkinson Disease NCIT:C26845 Parkinson Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Parkinson disease NCIT:C26845 @@ -31575,8 +31171,8 @@ MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic diseas MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic Disease of Breast NCIT:C3039 Breast Fibrocystic Change fibrocystic disease of breast NCIT:C3039 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of the breast fibrocystic disease of the breast Fibrocystic Disease of the Breast NCIT:C3039 Breast Fibrocystic Change fibrocystic disease of the breast NCIT:C3039 MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic mastopathy fibrocystic mastopathy Fibrocystic Mastopathy NCIT:C3039 Breast Fibrocystic Change fibrocystic mastopathy NCIT:C3039 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 +MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma Bellini duct carcinoma NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of collecting ducts of Bellini carcinoma of collecting ducts of Bellini Carcinoma of Collecting Ducts of Bellini NCIT:C6194 Collecting Duct Carcinoma carcinoma of collecting ducts of Bellini NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of kidney collecting duct carcinoma of kidney collecting duct Carcinoma of Kidney Collecting Duct NCIT:C6194 Collecting Duct Carcinoma carcinoma of kidney collecting duct NCIT:C6194 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct Carcinoma of Renal Collecting Duct NCIT:C6194 Collecting Duct Carcinoma carcinoma of renal collecting duct NCIT:C6194 @@ -31643,10 +31239,10 @@ MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering mye MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering plasma cell myeloma smoldering plasma cell myeloma Smoldering Plasma Cell Myeloma NCIT:C7149 Smoldering Multiple Myeloma smoldering plasma cell myeloma NCIT:C7149 MONDO:0005236 xanthoma oio:hasExactSynonym xanthoma xanthoma Xanthoma NCIT:C4071 Xanthoma xanthoma NCIT:C4071 MONDO:0005238 round cell liposarcoma oio:hasExactSynonym cellular myxoid liposarcoma cellular myxoid liposarcoma Cellular Myxoid Liposarcoma NCIT:C4252 Round Cell Liposarcoma cellular myxoid liposarcoma NCIT:C4252 -MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round Cell Liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 -MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 +MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma round cell liposarcoma NCIT:C4252 MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney Disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 +MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder kidney disease NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disorder kidney disorder Kidney Disorder NCIT:C3149 Kidney Disorder kidney disorder NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym renal disease renal disease Renal Disease NCIT:C3149 Kidney Disorder renal disease NCIT:C3149 MONDO:0005240 kidney disorder oio:hasExactSynonym renal disorder renal disorder Renal Disorder NCIT:C3149 Kidney Disorder renal disorder NCIT:C3149 @@ -31677,10 +31273,9 @@ MONDO:0005267 heart disorder oio:hasExactSynonym heart trouble heart trouble He MONDO:0005269 carotid artery disorder oio:hasExactSynonym carotid artery disorder carotid artery disorder Carotid Artery Disorder NCIT:C84476 Carotid Artery Disorder carotid artery disorder NCIT:C84476 MONDO:0005271 allergic disease oio:hasExactSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction allergic reaction NCIT:C114476 MONDO:0005271 allergic disease oio:hasExactSynonym allergy allergy Allergy NCIT:C114476 Allergic Reaction allergy NCIT:C114476 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia refractory anemia NCIT:C2872 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym MDS-SLD NCIT:C82591 Myelodysplastic Syndrome, Not Otherwise Specified with Single Lineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-SLD NCIT:C82591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005275 lung disorder oio:hasExactSynonym disorder of lung disorder of lung Disorder of Lung NCIT:C3198 Lung Disorder disorder of lung NCIT:C3198 MONDO:0005275 lung disorder oio:hasExactSynonym lung disorder lung disorder Lung Disorder NCIT:C3198 Lung Disorder lung disorder NCIT:C3198 @@ -31691,7 +31286,6 @@ MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorder pulmonary di MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorders pulmonary disorders Pulmonary Disorders NCIT:C3198 Lung Disorder pulmonary disorders NCIT:C3198 MONDO:0005277 migraine disorder oio:hasExactSynonym migraine migraine Migraine NCIT:C89715 Migraine migraine NCIT:C89715 MONDO:0005277 migraine disorder oio:hasExactSynonym migraine headache migraine headache Migraine Headache NCIT:C89715 Migraine migraine headache NCIT:C89715 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma serous adenocarcinoma NCIT:C3778 MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma serous adenocarcinoma NCIT:C40101 MONDO:0005279 pulmonary embolism oio:hasExactSynonym pulmonary embolism pulmonary embolism Pulmonary Embolism NCIT:C50713 Pulmonary Embolism pulmonary embolism NCIT:C50713 MONDO:0005280 prostatitis oio:hasExactSynonym prostatitis prostatitis Prostatitis NCIT:C26866 Prostatitis prostatitis NCIT:C26866 @@ -31731,20 +31325,17 @@ MONDO:0005300 chronic kidney disease oio:hasExactSynonym CKD - chronic kidney d MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic Kidney Disease NCIT:C80078 Chronic Kidney Disease chronic kidney disease NCIT:C80078 MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic kidney disease NCIT:C80078 Chronic Kidney Disease chronic kidney disease NCIT:C80078 MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease chronic renal disease NCIT:C80078 -MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure chronic renal disease NCIT:C9438 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit disorder attention deficit disorder Attention Deficit Disorder NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit disorder NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, inattentive/distractible type attention deficit hyperactivity disorder, inattentive/distractible type Attention Deficit Hyperactivity Disorder, Inattentive/Distractible Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit hyperactivity disorder, inattentive/distractible type NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, predominantly inattentive type attention deficit hyperactivity disorder, predominantly inattentive type Attention Deficit Hyperactivity Disorder, Predominantly Inattentive Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type attention deficit hyperactivity disorder, predominantly inattentive type NCIT:C35092 MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADD NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADD NCIT:C35092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005303 drug dependence oio:hasExactSynonym chemical dependence chemical dependence Chemical Dependence NCIT:C3894 Drug Dependence chemical dependence NCIT:C3894 MONDO:0005310 atrial flutter oio:hasExactSynonym atrial flutter atrial flutter Atrial Flutter NCIT:C51224 Atrial Flutter atrial flutter NCIT:C51224 MONDO:0005311 atherosclerosis oio:hasExactSynonym atherosclerotic cardiovascular disease atherosclerotic cardiovascular disease Atherosclerotic Cardiovascular Disease NCIT:C35771 Atherosclerotic Cardiovascular Disease atherosclerotic cardiovascular disease NCIT:C35771 -MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing Enterocolitis NCIT:C84915 Necrotizing Enterocolitis necrotizing enterocolitis NCIT:C84915 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture fracture NCIT:C3046 MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture Fracture NCIT:C3046 Fracture fracture NCIT:C3046 +MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture fracture NCIT:C3046 MONDO:0005315 bone fracture oio:hasExactSynonym fracture of bone fracture of bone Fracture of Bone NCIT:C3046 Fracture fracture of bone NCIT:C3046 MONDO:0005318 canker sore oio:hasExactSynonym aphthous ulcer aphthous ulcer Aphthous Ulcer NCIT:C62546 Canker Sore aphthous ulcer NCIT:C62546 MONDO:0005318 canker sore oio:hasExactSynonym canker sore canker sore Canker Sore NCIT:C62546 Canker Sore canker sore NCIT:C62546 @@ -31767,8 +31358,8 @@ MONDO:0005335 colorectal neoplasm oio:hasExactSynonym tumor of the large bowel MONDO:0005338 open-angle glaucoma oio:hasExactSynonym open angle glaucoma open angle glaucoma Open Angle Glaucoma NCIT:C34641 Open Angle Glaucoma open angle glaucoma NCIT:C34641 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of skin basal cell carcinoma of skin Basal Cell Carcinoma of Skin NCIT:C2921 Skin Basal Cell Carcinoma basal cell carcinoma of skin NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of the skin basal cell carcinoma of the skin Basal Cell Carcinoma of the Skin NCIT:C2921 Skin Basal Cell Carcinoma basal cell carcinoma of the skin NCIT:C2921 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal Cell Epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 +MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma basal cell epithelioma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell skin carcinoma basal cell skin carcinoma Basal Cell Skin Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma basal cell skin carcinoma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell cancer skin basal cell cancer Skin Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma skin basal cell cancer NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell carcinoma skin basal cell carcinoma Skin Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma skin basal cell carcinoma NCIT:C2921 @@ -31780,8 +31371,8 @@ MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B NCI MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B infection Hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection Hepatitis B infection NCIT:C3097 MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym hepatitis B infection hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection hepatitis B infection NCIT:C3097 MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym viral Hepatitis B viral Hepatitis B Viral Hepatitis B NCIT:C3097 Hepatitis B Infection viral Hepatitis B NCIT:C3097 -MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias hypospadias NCIT:C40341 MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias NCIT:C40341 Hypospadias hypospadias NCIT:C40341 +MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias hypospadias NCIT:C40341 MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis NCIT:C185242 Otosclerosis otosclerosis NCIT:C185242 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym Creutzfeldt-Jacob disease Creutzfeldt-Jacob disease Creutzfeldt-Jacob Disease NCIT:C26802 Creutzfeldt-Jakob Disease Creutzfeldt-Jacob disease NCIT:C26802 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym classic Creutzfeldt-Jakob disease classic Creutzfeldt-Jakob disease Classic Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease classic Creutzfeldt-Jakob disease NCIT:C26802 @@ -31855,8 +31446,8 @@ MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynon MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic malignant neoplasm to the lymph nodes metastatic malignant neoplasm to the lymph nodes Metastatic Malignant Neoplasm to the Lymph Nodes NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic malignant neoplasm to the lymph nodes NCIT:C4904 MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic neoplasm to the lymph node metastatic neoplasm to the lymph node Metastatic Neoplasm to the Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic neoplasm to the lymph node NCIT:C4904 MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic tumor to lymph node metastatic tumor to lymph node Metastatic Tumor to Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes metastatic tumor to lymph node NCIT:C4904 -MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant Carcinoma, Embryonal, Malignant NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 +MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma carcinoma, embryonal, malignant NCIT:C3752 MONDO:0005440 embryonal carcinoma oio:hasExactSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma embryonal carcinoma NCIT:C3752 MONDO:0005441 otitis media oio:hasExactSynonym medial otitis medial otitis Medial Otitis NCIT:C34885 Otitis Media medial otitis NCIT:C34885 MONDO:0005441 otitis media oio:hasExactSynonym middle Ear Inflammation middle Ear Inflammation Middle Ear Inflammation NCIT:C34885 Otitis Media middle Ear Inflammation NCIT:C34885 @@ -31872,8 +31463,6 @@ MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of testis m MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of the testis malignant tumor of the testis Malignant Tumor of the Testis NCIT:C7251 Malignant Testicular Neoplasm malignant tumor of the testis NCIT:C7251 MONDO:0005451 eating disorder oio:hasExactSynonym eating disorder eating disorder Eating Disorder NCIT:C89332 Eating Disorder eating disorder NCIT:C89332 MONDO:0005452 bulimia nervosa oio:hasExactSynonym bulimia bulimia Bulimia NCIT:C34440 Bulimia Nervosa bulimia NCIT:C34440 -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung NET lung NET Lung NET NCIT:C4038 Lung Neuroendocrine Tumor lung NET NCIT:C4038 -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine tumor lung neuroendocrine tumor Lung Neuroendocrine Tumor NCIT:C4038 Lung Neuroendocrine Tumor lung neuroendocrine tumor NCIT:C4038 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine neoplasm lung neuroendocrine neoplasm Lung Neuroendocrine Neoplasm NCIT:C5670 Lung Neuroendocrine Neoplasm lung neuroendocrine neoplasm NCIT:C5670 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of lung neuroendocrine neoplasm of lung Neuroendocrine Neoplasm of Lung NCIT:C5670 Lung Neuroendocrine Neoplasm neuroendocrine neoplasm of lung NCIT:C5670 MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of the lung neuroendocrine neoplasm of the lung Neuroendocrine Neoplasm of the Lung NCIT:C5670 Lung Neuroendocrine Neoplasm neuroendocrine neoplasm of the lung NCIT:C5670 @@ -31885,8 +31474,8 @@ MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 Virus infection H1N1 Vir MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 flu H1N1 flu H1N1 Flu NCIT:C80444 H1N1 Influenza H1N1 flu NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) NCIT:C80444 H1N1 Influenza Influenza A (H1N1) NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus Infection NCIT:C80444 H1N1 Influenza Influenza A (H1N1) Virus infection NCIT:C80444 -MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 +MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza swine flu NCIT:C80444 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of endometrium adenocarcinoma of endometrium Adenocarcinoma of Endometrium NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma of endometrium NCIT:C7359 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of the endometrium adenocarcinoma of the endometrium Adenocarcinoma of the Endometrium NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma of the endometrium NCIT:C7359 MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma, endometrial, malignant adenocarcinoma, endometrial, malignant ADENOCARCINOMA, ENDOMETRIAL, MALIGNANT NCIT:C7359 Endometrial Adenocarcinoma adenocarcinoma, endometrial, malignant NCIT:C7359 @@ -31952,7 +31541,6 @@ MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced ma MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced malignant mesothelioma of the peritoneum advanced malignant mesothelioma of the peritoneum Advanced Malignant Mesothelioma of the Peritoneum NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma advanced malignant mesothelioma of the peritoneum NCIT:C8704 MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced peritoneal malignant mesothelioma advanced peritoneal malignant mesothelioma Advanced Peritoneal Malignant Mesothelioma NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma advanced peritoneal malignant mesothelioma NCIT:C8704 MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym malignant peritoneal mesothelioma, advanced malignant peritoneal mesothelioma, advanced Malignant Peritoneal Mesothelioma, Advanced NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma malignant peritoneal mesothelioma, advanced NCIT:C8704 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma oral cavity cancer NCIT:C8990 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth neoplasm malignant mouth neoplasm Malignant Mouth Neoplasm NCIT:C9314 Malignant Oral Cavity Neoplasm malignant mouth neoplasm NCIT:C9314 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth tumor malignant mouth tumor Malignant Mouth Tumor NCIT:C9314 Malignant Oral Cavity Neoplasm malignant mouth tumor NCIT:C9314 MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant neoplasm of mouth malignant neoplasm of mouth Malignant Neoplasm of Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm malignant neoplasm of mouth NCIT:C9314 @@ -31963,15 +31551,12 @@ MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of mouth m MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of the mouth malignant tumor of the mouth Malignant Tumor of the Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm malignant tumor of the mouth NCIT:C9314 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym congenital skeletal dysplasia congenital skeletal dysplasia Congenital Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia congenital skeletal dysplasia NCIT:C84978 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym osteochondrodysplasia osteochondrodysplasia Osteochondrodysplasia NCIT:C84978 Osteochondrodysplasia osteochondrodysplasia NCIT:C84978 -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharyngeal neoplasm pharyngeal neoplasm Pharyngeal Neoplasm NCIT:C3325 Pharyngeal Neoplasm pharyngeal neoplasm NCIT:C3325 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal neoplasm malignant pharyngeal neoplasm Malignant Pharyngeal Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharyngeal neoplasm NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal tumor malignant pharyngeal tumor Malignant Pharyngeal Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharyngeal tumor NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx neoplasm malignant pharynx neoplasm Malignant Pharynx Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharynx neoplasm NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx tumor malignant pharynx tumor Malignant Pharynx Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm malignant pharynx tumor NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of pharynx malignant tumor of pharynx Malignant Tumor of Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm malignant tumor of pharynx NCIT:C7545 MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of the pharynx malignant tumor of the pharynx Malignant Tumor of the Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm malignant tumor of the pharynx NCIT:C7545 -MONDO:0005517 pharynx cancer oio:hasExactSynonym cancer of pharynx cancer of pharynx Cancer of Pharynx NCIT:C9466 Pharyngeal Carcinoma cancer of pharynx NCIT:C9466 -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharynx cancer pharynx cancer Pharynx Cancer NCIT:C9466 Pharyngeal Carcinoma pharynx cancer NCIT:C9466 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of kidney pelvis carcinoma of kidney pelvis Carcinoma of Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of kidney pelvis NCIT:C6142 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of renal pelvis carcinoma of renal pelvis Carcinoma of Renal Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of renal pelvis NCIT:C6142 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of the kidney pelvis carcinoma of the kidney pelvis Carcinoma of the Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma carcinoma of the kidney pelvis NCIT:C6142 @@ -31997,19 +31582,17 @@ MONDO:0005541 spondylolysis oio:hasExactSynonym spondylolysis spondylolysis Spo MONDO:0005542 acute coronary syndrome oio:hasExactSynonym acute coronary syndrome acute coronary syndrome Acute Coronary Syndrome NCIT:C53652 Acute Coronary Syndrome acute coronary syndrome NCIT:C53652 MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia fibromyalgia Fibromyalgia NCIT:C87497 Fibromyalgia fibromyalgia NCIT:C87497 MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia syndrome fibromyalgia syndrome Fibromyalgia Syndrome NCIT:C87497 Fibromyalgia fibromyalgia syndrome NCIT:C87497 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma renal cell cancer NCIT:C6568 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney adenocarcinoma of kidney Adenocarcinoma of Kidney NCIT:C9385 Renal Cell Carcinoma adenocarcinoma of kidney NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney adenocarcinoma of the kidney Adenocarcinoma of the Kidney NCIT:C9385 Renal Cell Carcinoma adenocarcinoma of the kidney NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym carcinoma, renal cell, malignant carcinoma, renal cell, malignant CARCINOMA, RENAL CELL, MALIGNANT NCIT:C9385 Renal Cell Carcinoma carcinoma, renal cell, malignant NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym kidney adenocarcinoma kidney adenocarcinoma Kidney Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma kidney adenocarcinoma NCIT:C9385 -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal cell adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 +MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma renal cell adenocarcinoma NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma renal cell cancer NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell carcinoma, stage unspecified renal cell carcinoma, stage unspecified Renal Cell Carcinoma, Stage Unspecified NCIT:C9385 Renal Cell Carcinoma renal cell carcinoma, stage unspecified NCIT:C9385 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder infection NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infection infection INFECTION NCIT:C26726 Infectious Disorder infection NCIT:C26726 +MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder infection NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious infectious Infectious NCIT:C26726 Infectious Disorder infectious NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious disease infectious disease Infectious Disease NCIT:C26726 Infectious Disorder infectious disease NCIT:C26726 MONDO:0005550 infectious disease oio:hasExactSynonym infectious diseases and manifestations infectious diseases and manifestations Infectious Diseases and Manifestations NCIT:C26726 Infectious Disorder infectious diseases and manifestations NCIT:C26726 @@ -32027,15 +31610,14 @@ MONDO:0005559 neurodegenerative disease oio:hasExactSynonym central nervous sys MONDO:0005561 aortic disorder oio:hasExactSynonym aorta disease aorta disease Aorta Disease NCIT:C101253 Aorta Disease aorta disease NCIT:C101253 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and young adults with NUT rearrangement NCIT:C45716 NUT Carcinoma Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline Carcinoma of Children and Young Adults with NUT Rearrangement NCIT:C45716 NUT Carcinoma Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT Midline Carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma NUT Midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NUT carcinoma NUT Carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma NUT carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym carcinoma with t(15;19)(q13;p13.1) translocation carcinoma with t(15;19)(q13;p13.1) translocation Carcinoma with t(15;19)(q13;p13.1) Translocation NCIT:C45716 NUT Carcinoma carcinoma with t(15;19)(q13;p13.1) translocation NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym nuclear protein in testis midline carcinoma nuclear protein in testis midline carcinoma Nuclear Protein in Testis Midline Carcinoma NCIT:C45716 NUT Carcinoma nuclear protein in testis midline carcinoma NCIT:C45716 MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NMC NCIT:C45716 NUT Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NMC NCIT:C45716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal neoplasm embryonal neoplasm Embryonal Neoplasm NCIT:C3264 Embryonal Neoplasm embryonal neoplasm NCIT:C3264 -MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal tumor embryonal tumor Embryonal Tumor NCIT:C5817 Intracranial Embryonal Tumor, Not Otherwise Specified embryonal tumor NCIT:C5817 MONDO:0005565 blastoma oio:hasExactSynonym blastoma blastoma Blastoma NCIT:C8997 Blastoma blastoma NCIT:C8997 MONDO:0005565 blastoma oio:hasExactSynonym embryoma embryoma Embryoma NCIT:C8997 Blastoma embryoma NCIT:C8997 MONDO:0005566 neonatal abstinence syndrome oio:hasExactSynonym neonatal narcotic withdrawal syndrome neonatal narcotic withdrawal syndrome Neonatal Narcotic Withdrawal Syndrome NCIT:C87101 Neonatal Abstinence Syndrome neonatal narcotic withdrawal syndrome NCIT:C87101 @@ -32049,10 +31631,6 @@ MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic and lymphocy MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic disorder hematologic disorder Hematologic Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder hematologic disorder NCIT:C26323 MONDO:0005570 hematologic disorder oio:hasExactSynonym hematological disorder hematological disorder Hematological Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder hematological disorder NCIT:C26323 MONDO:0005571 polycythemia oio:hasExactSynonym polycythemia polycythemia Polycythemia NCIT:C26863 Polycythemia polycythemia NCIT:C26863 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma cancer of large bowel NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma cancer of large intestine NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma cancer of the large bowel NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer colorectal cancer Colorectal Cancer NCIT:C2955 Colorectal Carcinoma colorectal cancer NCIT:C2955 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal neoplasm malignant colorectal neoplasm Malignant Colorectal Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm malignant colorectal neoplasm NCIT:C4978 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal tumor malignant colorectal tumor Malignant Colorectal Tumor NCIT:C4978 Malignant Colorectal Neoplasm malignant colorectal tumor NCIT:C4978 MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant large bowel neoplasm malignant large bowel neoplasm Malignant Large Bowel Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm malignant large bowel neoplasm NCIT:C4978 @@ -32120,9 +31698,8 @@ MONDO:0005602 ovarian teratoma oio:hasExactSynonym ovarian teratoma ovarian ter MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of ovary teratoma of ovary Teratoma of Ovary NCIT:C8110 Ovarian Teratoma teratoma of ovary NCIT:C8110 MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of the ovary teratoma of the ovary Teratoma of the Ovary NCIT:C8110 Ovarian Teratoma teratoma of the ovary NCIT:C8110 MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional cell papilloma transitional cell papilloma Transitional Cell Papilloma NCIT:C4115 Transitional Cell Papilloma transitional cell papilloma NCIT:C4115 -MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 -MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C5473 Gastric Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C5473 +MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma transitional papilloma NCIT:C4115 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym carcinoma, tubular cell, malignant carcinoma, tubular cell, malignant CARCINOMA, TUBULAR CELL, MALIGNANT NCIT:C65192 Tubular Adenocarcinoma carcinoma, tubular cell, malignant NCIT:C65192 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C65192 MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular Adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma tubular adenocarcinoma NCIT:C65192 @@ -32153,7 +31730,6 @@ MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym anaplastic carcino MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated carcinoma, undifferentiated Carcinoma, Undifferentiated NCIT:C3692 Undifferentiated Carcinoma carcinoma, undifferentiated NCIT:C3692 MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated, malignant carcinoma, undifferentiated, malignant CARCINOMA, UNDIFFERENTIATED, MALIGNANT NCIT:C3692 Undifferentiated Carcinoma carcinoma, undifferentiated, malignant NCIT:C3692 MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated Carcinoma NCIT:C3692 Undifferentiated Carcinoma undifferentiated carcinoma NCIT:C3692 -MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated carcinoma NCIT:C5722 Pancreatic Undifferentiated Carcinoma undifferentiated carcinoma NCIT:C5722 MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder anxiety disorder Anxiety Disorder NCIT:C2878 Anxiety Disorder anxiety disorder NCIT:C2878 MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever typhoid fever Typhoid Fever NCIT:C35089 Typhoid Fever typhoid fever NCIT:C35089 MONDO:0005626 epithelial neoplasm oio:hasExactSynonym epithelial neoplasm epithelial neoplasm Epithelial Neoplasm NCIT:C3709 Epithelial Neoplasm epithelial neoplasm NCIT:C3709 @@ -32177,12 +31753,12 @@ MONDO:0005628 male breast carcinoma oio:hasExactSynonym male breast carcinoma m MONDO:0005632 acute chest syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma adenomyoma Adenomyoma NCIT:C3726 Adenomyoma adenomyoma NCIT:C3726 MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma, benign adenomyoma, benign ADENOMYOMA, BENIGN NCIT:C3726 Adenomyoma adenomyoma, benign NCIT:C3726 -MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma Mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 +MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma Mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym Müllerian adenosarcoma Müllerian adenosarcoma Müllerian Adenosarcoma NCIT:C9474 Adenosarcoma Müllerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym adenosarcoma adenosarcoma Adenosarcoma NCIT:C9474 Adenosarcoma adenosarcoma NCIT:C9474 -MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 +MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma mullerian adenosarcoma NCIT:C9474 MONDO:0005638 agnosia oio:hasExactSynonym agnosia agnosia Agnosia NCIT:C84542 Agnosia agnosia NCIT:C84542 MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym Atopic conjunctivitis Atopic conjunctivitis Atopic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis Atopic conjunctivitis NCIT:C34506 MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym allergic conjunctivitis allergic conjunctivitis Allergic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis allergic conjunctivitis NCIT:C34506 @@ -32192,8 +31768,8 @@ MONDO:0005648 aortic valve insufficiency oio:hasExactSynonym aortic insufficien MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym Cervicocranial syndrome Cervicocranial syndrome Cervicocranial Syndrome NCIT:C34411 Cervicocranial Syndrome Cervicocranial syndrome NCIT:C34411 MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym posterior cervical sympathetic syndrome posterior cervical sympathetic syndrome Posterior Cervical Sympathetic Syndrome NCIT:C34411 Cervicocranial Syndrome posterior cervical sympathetic syndrome NCIT:C34411 MONDO:0005664 bartonellosis oio:hasExactSynonym Bartonella infection Bartonella infection Bartonella Infection NCIT:C84586 Bartonella Infection Bartonella infection NCIT:C84586 -MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial nerve palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 +MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy facial nerve palsy NCIT:C26769 MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve paralysis facial nerve paralysis Facial Nerve Paralysis NCIT:C26769 Cranial Nerve VII Palsy facial nerve paralysis NCIT:C26769 MONDO:0005668 bird fancier's lung oio:hasExactSynonym Avian hypersensitivity pneumonitis Avian hypersensitivity pneumonitis Avian Hypersensitivity Pneumonitis NCIT:C34425 Bird Fancier's Lung Avian hypersensitivity pneumonitis NCIT:C34425 MONDO:0005668 bird fancier's lung oio:hasExactSynonym bird fancier's lung bird fancier's lung Bird Fancier's Lung NCIT:C34425 Bird Fancier's Lung bird fancier's lung NCIT:C34425 @@ -32238,18 +31814,16 @@ MONDO:0005731 dipetalonemiasis oio:hasExactSynonym Dipetalonema infections Dipe MONDO:0005731 dipetalonemiasis oio:hasExactSynonym dipetalonemiasis dipetalonemiasis Dipetalonemiasis NCIT:C34540 Dipetalonemiasis dipetalonemiasis NCIT:C34540 MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym Ebola NCIT:C36171 Ebola Hemorrhagic Fever Ebola NCIT:C36171 MONDO:0005738 echinococcosis oio:hasExactSynonym echinococcosis echinococcosis Echinococcosis NCIT:C84682 Echinococcosis echinococcosis NCIT:C84682 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor yolk Sac tumor NCIT:C27241 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor yolk sac tumor NCIT:C27241 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus neoplasm endodermal sinus neoplasm Endodermal Sinus Neoplasm NCIT:C3011 Yolk Sac Tumor endodermal sinus neoplasm NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor endodermal sinus tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor endodermal sinus tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk SAC tumor, malignant yolk SAC tumor, malignant YOLK SAC TUMOR, MALIGNANT NCIT:C3011 Yolk Sac Tumor yolk SAC tumor, malignant NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac neoplasm yolk Sac neoplasm Yolk Sac Neoplasm NCIT:C3011 Yolk Sac Tumor yolk Sac neoplasm NCIT:C3011 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk Sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor site unspecified yolk Sac tumor site unspecified Yolk Sac Tumor Site Unspecified NCIT:C3011 Yolk Sac Tumor yolk Sac tumor site unspecified NCIT:C3011 -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor yolk sac tumor NCIT:C3011 MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumour site unspecified yolk Sac tumour site unspecified Yolk Sac Tumour Site Unspecified NCIT:C3011 Yolk Sac Tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour site unspecified NCIT:C3011 MONDO:0005746 enterobiasis oio:hasExactSynonym threadworm infection threadworm infection Threadworm Infection NCIT:C128396 Enterobiasis threadworm infection NCIT:C128396 MONDO:0005749 eosinophilic pneumonia oio:hasExactSynonym eosinophilic pneumonia eosinophilic pneumonia Eosinophilic Pneumonia NCIT:C35150 Eosinophilic Pneumonia eosinophilic pneumonia NCIT:C35150 @@ -32258,11 +31832,11 @@ MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynony MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynonym tonic-clonic epilepsy tonic-clonic epilepsy Tonic-Clonic Epilepsy NCIT:C3022 Tonic-Clonic Epilepsy tonic-clonic epilepsy NCIT:C3022 MONDO:0005756 ethmoid sinusitis oio:hasExactSynonym ethmoidal sinusitis ethmoidal sinusitis Ethmoidal Sinusitis NCIT:C34597 Ethmoidal Sinusitis ethmoidal sinusitis NCIT:C34597 MONDO:0005758 eunuchism oio:hasExactSynonym Primary testicular failure Primary testicular failure Primary Testicular Failure NCIT:C131195 Primary Testicular Failure Primary testicular failure NCIT:C131195 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma/tumor follicular Dendritic cell sarcoma/tumor Follicular Dendritic Cell Sarcoma/Tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular Dendritic cell sarcoma/tumor NCIT:C9281 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell sarcoma NCIT:C9281 MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumor follicular dendritic cell tumor Follicular dendritic cell tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma follicular dendritic cell tumor NCIT:C9281 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym Herpes Zoster Oticus NCIT:C84763 Herpes Zoster Oticus Herpes Zoster Oticus NCIT:C84763 MONDO:0005771 geographic tongue oio:hasExactSynonym benign migratory glossitis benign migratory glossitis Benign Migratory Glossitis NCIT:C84588 Benign Migratory Glossitis benign migratory glossitis NCIT:C84588 @@ -32290,14 +31864,13 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypo MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of the hypopharynx malignant neoplasm of the hypopharynx Malignant Neoplasm of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant neoplasm of the hypopharynx NCIT:C7190 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx malignant tumor of hypopharynx Malignant Tumor of Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant tumor of hypopharynx NCIT:C7190 MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of the hypopharynx malignant tumor of the hypopharynx Malignant Tumor of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm malignant tumor of the hypopharynx NCIT:C7190 -MONDO:0005806 hypopharynx cancer oio:hasExactSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma hypopharyngeal cancer NCIT:C9465 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis Chlamydial conjunctivitis Chlamydial Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis Chlamydial conjunctivitis NCIT:C116817 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma NCIT:C116817 Neonatal Chlamydia Conjunctivitis Trachoma NCIT:C116817 MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym neonatal Chlamydia conjunctivitis neonatal Chlamydia conjunctivitis Neonatal Chlamydia Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis neonatal Chlamydia conjunctivitis NCIT:C116817 MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Mono NCIT:C34726 Infectious Mononucleosis Mono NCIT:C34726 MONDO:0005812 influenza oio:hasExactSynonym flu flu Flu NCIT:C53482 Influenza flu NCIT:C53482 -MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating dendritic cell sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 +MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma/tumor interdigitating Dendritic cell sarcoma/tumor Interdigitating Dendritic Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating Dendritic cell sarcoma/tumor NCIT:C9282 MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma/tumor interdigitating cell sarcoma/tumor Interdigitating Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma interdigitating cell sarcoma/tumor NCIT:C9282 MONDO:0005814 intestinal cancer oio:hasExactSynonym bowel cancer bowel cancer Bowel Cancer NCIT:C4572 Malignant Intestinal Neoplasm bowel cancer NCIT:C4572 @@ -32325,7 +31898,6 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym leptospirosis leptospirosis Lep MONDO:0005828 listeriosis oio:hasExactSynonym Listeria infection Listeria infection Listeria Infection NCIT:C82994 Listeriosis Listeria infection NCIT:C82994 MONDO:0005831 lymph node tuberculosis oio:hasExactSynonym lymph node tuberculosis lymph node tuberculosis Lymph Node Tuberculosis NCIT:C26896 Lymph Node Tuberculosis lymph node tuberculosis NCIT:C26896 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym swollen gland swollen gland Swollen Gland NCIT:C50764 Lymphadenopathy swollen gland NCIT:C50764 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym hereditary non-polyposis colon cancer type 1 hereditary non-polyposis colon cancer type 1 Hereditary Non-Polyposis Colon Cancer Type 1 NCIT:C6725 Lynch 1 Syndrome hereditary non-polyposis colon cancer type 1 NCIT:C6725 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary colorectal endometrial cancer syndrome Hereditary colorectal endometrial cancer syndrome Hereditary Colorectal Endometrial Cancer Syndrome NCIT:C8494 Lynch Syndrome Hereditary colorectal endometrial cancer syndrome NCIT:C8494 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 @@ -32395,8 +31967,8 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym carcinoma, isl MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high grade pancreatic neuroendocrine carcinoma high grade pancreatic neuroendocrine carcinoma High Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma high grade pancreatic neuroendocrine carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high-grade pancreatic neuroendocrine carcinoma high-grade pancreatic neuroendocrine carcinoma High-Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma high-grade pancreatic neuroendocrine carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell cancer islet cell cancer Islet Cell Cancer NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell cancer NCIT:C3770 -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet cell carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 +MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma islet cell carcinoma NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma malignant islet cell tumor NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma malignant pancreatic endocrine tumor NCIT:C3770 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic NEC pancreatic NEC Pancreatic NEC NCIT:C3770 Pancreatic Neuroendocrine Carcinoma pancreatic NEC NCIT:C3770 @@ -32426,18 +31998,18 @@ MONDO:0005933 pulmonary blastoma oio:hasExactSynonym Pneumoblastoma NCIT:C373 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of lung blastoma of lung Blastoma of Lung NCIT:C3732 Pulmonary Blastoma blastoma of lung NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of the lung blastoma of the lung Blastoma of the Lung NCIT:C3732 Pulmonary Blastoma blastoma of the lung NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym lung blastoma lung blastoma Lung Blastoma NCIT:C3732 Pulmonary Blastoma lung blastoma NCIT:C3732 -MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary Blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 +MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma pulmonary blastoma NCIT:C3732 MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym malignant retroperitoneal neoplasm malignant retroperitoneal neoplasm Malignant Retroperitoneal Neoplasm NCIT:C3537 Malignant Retroperitoneal Neoplasm malignant retroperitoneal neoplasm NCIT:C3537 MONDO:0005942 Reye syndrome oio:hasExactSynonym Reye's syndrome Reye's syndrome Reye's Syndrome NCIT:C34983 Reye Syndrome Reye's syndrome NCIT:C34983 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, MALIGNANT NCIT:C2928 Scirrhous Adenocarcinoma FIBROADENOCARCINOMA, malignant NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma With Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma adenocarcinoma with productive fibrosis NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym fibrocarcinoma fibrocarcinoma Fibrocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma fibrocarcinoma NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous Adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous adenocarcinoma NCIT:C2928 MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous Carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma scirrhous carcinoma NCIT:C2928 MONDO:0005960 silicosis oio:hasExactSynonym silicosis silicosis Silicosis NCIT:C3369 Silicosis silicosis NCIT:C3369 MONDO:0005964 sphenoid sinusitis oio:hasExactSynonym sphenoidal sinusitis sphenoidal sinusitis Sphenoidal Sinusitis NCIT:C35031 Sphenoidal Sinusitis sphenoidal sinusitis NCIT:C35031 MONDO:0005966 spleen cancer oio:hasExactSynonym cancer of the spleen cancer of the spleen Cancer of the Spleen NCIT:C3539 Malignant Splenic Neoplasm cancer of the spleen NCIT:C3539 @@ -32462,14 +32034,14 @@ MONDO:0006003 uterine corpus cancer oio:hasExactSynonym cancer of the corpus ut MONDO:0006003 uterine corpus cancer oio:hasExactSynonym corpus uteri cancer corpus uteri cancer Corpus Uteri Cancer NCIT:C61574 Uterine Corpus Cancer corpus uteri cancer NCIT:C61574 MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine (including endometrial) cancer uterine (including endometrial) cancer Uterine (Including Endometrial) Cancer NCIT:C61574 Uterine Corpus Cancer uterine (including endometrial) cancer NCIT:C61574 MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine corpus cancer uterine corpus cancer Uterine Corpus Cancer NCIT:C61574 Uterine Corpus Cancer uterine corpus cancer NCIT:C61574 -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma verrucous carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous Epidermoid Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous epidermoid carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid cell carcinoma verrucous epidermoid cell carcinoma Verrucous Epidermoid Cell Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous epidermoid cell carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous carcinoma verrucous squamous carcinoma Verrucous Squamous Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous carcinoma NCIT:C3781 -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous Squamous Cell Carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma verrucous squamous cell carcinoma NCIT:C3781 MONDO:0006009 viral encephalitis oio:hasExactSynonym viral encephalitis viral encephalitis Viral Encephalitis NCIT:C35302 Viral Encephalitis viral encephalitis NCIT:C35302 MONDO:0006011 viral hepatitis oio:hasExactSynonym viral Hepatitis viral Hepatitis Viral Hepatitis NCIT:C35124 Viral Hepatitis viral Hepatitis NCIT:C35124 MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vaginal candidiasis vaginal candidiasis Vaginal Candidiasis NCIT:C2914 Vulvovaginal Candidiasis vaginal candidiasis NCIT:C2914 @@ -32542,7 +32114,6 @@ MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous carci MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma squamous cell breast carcinoma Squamous Cell Breast Carcinoma NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell breast carcinoma NCIT:C5177 MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of breast squamous cell carcinoma of breast Squamous Cell Carcinoma of Breast NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell carcinoma of breast NCIT:C5177 MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of the breast squamous cell carcinoma of the breast Squamous Cell Carcinoma of the Breast NCIT:C5177 Breast Squamous Cell Carcinoma squamous cell carcinoma of the breast NCIT:C5177 -MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor Wilms tumor NCIT:C27730 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor Wilms tumor NCIT:C3267 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor NCIT:C3267 Wilms Tumor Wilms tumor NCIT:C3267 MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor Wilms' tumor NCIT:C3267 @@ -32634,17 +32205,15 @@ MONDO:0006071 adenofibroma oio:hasExactSynonym adenofibroma, benign adenofibrom MONDO:0006071 adenofibroma oio:hasExactSynonym benign mixed Muellerian tumor benign mixed Muellerian tumor Benign Mixed Muellerian Tumor NCIT:C8984 Female Reproductive System Adenofibroma benign mixed Muellerian tumor NCIT:C8984 MONDO:0006071 adenofibroma oio:hasExactSynonym female reproductive system adenofibroma female reproductive system adenofibroma Female Reproductive System Adenofibroma NCIT:C8984 Female Reproductive System Adenofibroma female reproductive system adenofibroma NCIT:C8984 MONDO:0006073 adenomatoid odontogenic tumor oio:hasExactSynonym adenomatoid odontogenic neoplasm adenomatoid odontogenic neoplasm Adenomatoid Odontogenic Neoplasm NCIT:C4310 Adenomatoid Odontogenic Tumor adenomatoid odontogenic neoplasm NCIT:C4310 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym carcinoma, adenosquamous, malignant carcinoma, adenosquamous, malignant CARCINOMA, ADENOSQUAMOUS, MALIGNANT NCIT:C3727 Adenosquamous Carcinoma carcinoma, adenosquamous, malignant NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid cell carcinoma mixed adenocarcinoma and epidermoid cell carcinoma Mixed Adenocarcinoma and Epidermoid Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and epidermoid cell carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous carcinoma mixed adenocarcinoma and squamous carcinoma Mixed Adenocarcinoma and Squamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous carcinoma NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed Adenocarcinoma and Squamous Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C4519 Cervical Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C4519 -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C5721 Pancreatic Adenosquamous Carcinoma adenosquamous carcinoma NCIT:C5721 +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym MYELOLIPOMA, benign MYELOLIPOMA, benign MYELOLIPOMA, BENIGN NCIT:C3736 Adrenal Gland Myelolipoma MYELOLIPOMA, benign NCIT:C3736 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma Myelolipoma NCIT:C3736 MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym adrenal gland myelolipoma adrenal gland myelolipoma Adrenal Gland Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma adrenal gland myelolipoma NCIT:C3736 @@ -32661,8 +32230,8 @@ MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactS MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of primary central nervous system AIDS-related lymphoma of primary central nervous system AIDS-Related Lymphoma of Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related lymphoma of primary central nervous system NCIT:C8284 MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of the primary central nervous system AIDS-related lymphoma of the primary central nervous system AIDS-Related Lymphoma of the Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related lymphoma of the primary central nervous system NCIT:C8284 MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related primary CNS lymphoma AIDS-related primary CNS lymphoma AIDS-Related Primary CNS Lymphoma NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma AIDS-related primary CNS lymphoma NCIT:C8284 -MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 +MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma ameloblastic carcinoma NCIT:C7492 MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym odontoma, ameloblastic, malignant odontoma, ameloblastic, malignant ODONTOMA, AMELOBLASTIC, MALIGNANT NCIT:C7492 Ameloblastic Carcinoma odontoma, ameloblastic, malignant NCIT:C7492 MONDO:0006081 anal melanoma oio:hasExactSynonym anal malignant melanoma anal malignant melanoma Anal Malignant Melanoma NCIT:C4639 Anal Melanoma anal malignant melanoma NCIT:C4639 MONDO:0006081 anal melanoma oio:hasExactSynonym anal melanoma anal melanoma Anal Melanoma NCIT:C4639 Anal Melanoma anal melanoma NCIT:C4639 @@ -32708,8 +32277,8 @@ MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of breast atypical lobular hyperplasia of breast Atypical Lobular Hyperplasia of Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia atypical lobular hyperplasia of breast NCIT:C4730 MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of the breast atypical lobular hyperplasia of the breast Atypical Lobular Hyperplasia of the Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia atypical lobular hyperplasia of the breast NCIT:C4730 MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym ALH NCIT:C4730 Breast Atypical Lobular Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALH NCIT:C4730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 +MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma basaloid carcinoma NCIT:C4121 MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym benign adrenal gland pheochromocytoma benign adrenal gland pheochromocytoma Benign Adrenal Gland Pheochromocytoma NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma benign adrenal gland pheochromocytoma NCIT:C48305 MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, benign pheochromocytoma, benign PHEOCHROMOCYTOMA, BENIGN NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, benign NCIT:C48305 MONDO:0006104 benign carotid body paraganglioma oio:hasExactSynonym benign carotid body paraganglioma benign carotid body paraganglioma Benign Carotid Body Paraganglioma NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma benign carotid body paraganglioma NCIT:C79950 @@ -32902,8 +32471,8 @@ MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cel MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of uterine cervix squamous cell carcinoma of uterine cervix Squamous Cell Carcinoma of Uterine Cervix NCIT:C4028 Cervical Squamous Cell Carcinoma squamous cell carcinoma of uterine cervix NCIT:C4028 MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym uterine cervix squamous cell carcinoma uterine cervix squamous cell carcinoma Uterine Cervix Squamous Cell Carcinoma NCIT:C4028 Cervical Squamous Cell Carcinoma uterine cervix squamous cell carcinoma NCIT:C4028 MONDO:0006144 cervical Wilms tumor oio:hasExactSynonym cervical Wilms tumor cervical Wilms tumor Cervical Wilms Tumor NCIT:C40236 Cervical Wilms Tumor cervical Wilms tumor NCIT:C40236 -MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid Chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 +MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma chondroid chordoma NCIT:C6902 MONDO:0006149 clear cell papillary cystadenoma oio:hasExactSynonym clear cell papillary cystadenoma clear cell papillary cystadenoma Clear Cell Papillary Cystadenoma NCIT:C65203 Clear Cell Papillary Cystadenoma clear cell papillary cystadenoma NCIT:C65203 MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt lymphoma colon Burkitt lymphoma Colon Burkitt Lymphoma NCIT:C27465 Colon Burkitt Lymphoma colon Burkitt lymphoma NCIT:C27465 MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt's lymphoma colon Burkitt's lymphoma Colon Burkitt's Lymphoma NCIT:C27465 Colon Burkitt Lymphoma colon Burkitt's lymphoma NCIT:C27465 @@ -33053,8 +32622,8 @@ MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym endom MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid adenocarcinoma uterine corpus endometrioid adenocarcinoma Uterine Corpus Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma uterine corpus endometrioid adenocarcinoma NCIT:C6287 MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid carcinoma uterine corpus endometrioid carcinoma Uterine Corpus Endometrioid Carcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma uterine corpus endometrioid carcinoma NCIT:C6287 MONDO:0006193 endometrial hyperplasia without atypia oio:hasExactSynonym typical endometrial hyperplasia typical endometrial hyperplasia Typical Endometrial Hyperplasia NCIT:C40157 Endometrial Hyperplasia without Atypia typical endometrial hyperplasia NCIT:C40157 -MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial Polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 +MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp endometrial polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial stromal polyp endometrial stromal polyp Endometrial Stromal Polyp NCIT:C6433 Endometrial Polyp endometrial stromal polyp NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp polyp of endometrium NCIT:C6433 MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of the endometrium polyp of the endometrium Polyp of the Endometrium NCIT:C6433 Endometrial Polyp polyp of the endometrium NCIT:C6433 @@ -33203,8 +32772,8 @@ MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell myoblastoma MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell nerve sheath tumor granular cell nerve sheath tumor Granular Cell Nerve Sheath Tumor NCIT:C3474 Granular Cell Tumor granular cell nerve sheath tumor NCIT:C3474 MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell schwannoma granular cell schwannoma Granular Cell Schwannoma NCIT:C3474 Granular Cell Tumor granular cell schwannoma NCIT:C3474 MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell tumor granular cell tumor Granular Cell Tumor NCIT:C3474 Granular Cell Tumor granular cell tumor NCIT:C3474 -MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 +MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma granulocytic sarcoma NCIT:C35815 MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym sarcoma, granulocytic, malignant sarcoma, granulocytic, malignant SARCOMA, GRANULOCYTIC, MALIGNANT NCIT:C35815 Granulocytic Sarcoma sarcoma, granulocytic, malignant NCIT:C35815 MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym Somatotrophinoma NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor Somatotrophinoma NCIT:C7461 MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym growth hormone producing adenoma of pituitary gland growth hormone producing adenoma of pituitary gland Growth Hormone Producing Adenoma of Pituitary Gland NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor growth hormone producing adenoma of pituitary gland NCIT:C7461 @@ -33219,10 +32788,10 @@ MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynon MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym head and neck paraganglioma head and neck paraganglioma Head and Neck Paraganglioma NCIT:C5327 Head and Neck Paraganglioma head and neck paraganglioma NCIT:C5327 MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of head and neck paraganglioma of head and neck Paraganglioma of Head and Neck NCIT:C5327 Head and Neck Paraganglioma paraganglioma of head and neck NCIT:C5327 MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of the head and neck paraganglioma of the head and neck Paraganglioma of the Head and Neck NCIT:C5327 Head and Neck Paraganglioma paraganglioma of the head and neck NCIT:C5327 -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid adenocarcinoma NCIT:C66950 MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma hepatoid carcinoma NCIT:C66950 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma ERBB2 Overexpressing subtype of breast carcinoma NCIT:C53556 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing breast carcinoma HER2 Overexpressing breast carcinoma HER2 Overexpressing Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 Overexpressing breast carcinoma NCIT:C53556 MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 Overexpressing subtype of breast carcinoma NCIT:C53556 @@ -33230,8 +32799,8 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Positive MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 positive breast carcinoma HER2 positive breast carcinoma HER2 Positive Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma HER2 positive breast carcinoma NCIT:C53556 MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym clear cell eccrine carcinoma clear cell eccrine carcinoma Clear Cell Eccrine Carcinoma NCIT:C54664 Hidradenocarcinoma clear cell eccrine carcinoma NCIT:C54664 MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma hidradenocarcinoma NCIT:C54664 -MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High Grade Surface Osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 +MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma high grade surface osteosarcoma NCIT:C53958 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell neoplasms histiocytic and Dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and Dendritic cell neoplasms NCIT:C9294 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell tumors histiocytic and Dendritic cell tumors Histiocytic and Dendritic Cell Tumors NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and Dendritic cell tumors NCIT:C9294 MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and dendritic cell neoplasm histiocytic and dendritic cell neoplasm Histiocytic and Dendritic Cell Neoplasm NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm histiocytic and dendritic cell neoplasm NCIT:C9294 @@ -33245,8 +32814,8 @@ MONDO:0006249 hyperplastic polyp oio:hasExactSynonym MP NCIT:C4083 Hyperplast MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal NET G1 ileal NET G1 Ileal NET G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 ileal NET G1 NCIT:C4935 MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal neuroendocrine tumor G1 ileal neuroendocrine tumor G1 Ileal Neuroendocrine Tumor G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 ileal neuroendocrine tumor G1 NCIT:C4935 MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal type carcinoma intestinal type carcinoma Intestinal Type Carcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal type carcinoma NCIT:C4126 -MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-Type Adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 +MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma intestinal-type adenocarcinoma NCIT:C4126 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating breast carcinoma infiltrating breast carcinoma Infiltrating Breast Carcinoma NCIT:C9245 Invasive Breast Carcinoma infiltrating breast carcinoma NCIT:C9245 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of breast infiltrating carcinoma of breast Infiltrating Carcinoma of Breast NCIT:C9245 Invasive Breast Carcinoma infiltrating carcinoma of breast NCIT:C9245 MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of the breast infiltrating carcinoma of the breast Infiltrating Carcinoma of the Breast NCIT:C9245 Invasive Breast Carcinoma infiltrating carcinoma of the breast NCIT:C9245 @@ -33346,8 +32915,8 @@ MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing angioma MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of lung sclerosing hemangioma of lung Sclerosing Hemangioma of Lung NCIT:C5656 Sclerosing Pneumocytoma sclerosing hemangioma of lung NCIT:C5656 MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of the lung sclerosing hemangioma of the lung Sclerosing Hemangioma of the Lung NCIT:C5656 Sclerosing Pneumocytoma sclerosing hemangioma of the lung NCIT:C5656 MONDO:0006281 lung signet ring cell carcinoma oio:hasExactSynonym lung signet ring cell carcinoma lung signet ring cell carcinoma Lung Signet Ring Cell Carcinoma NCIT:C45514 Lung Signet Ring Cell Carcinoma lung signet ring cell carcinoma NCIT:C45514 -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 +MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma lymphangioendothelial sarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma lymphangiosarcoma Lymphangiosarcoma NCIT:C3205 Lymphangiosarcoma lymphangiosarcoma NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma, malignant lymphangiosarcoma, malignant LYMPHANGIOSARCOMA, MALIGNANT NCIT:C3205 Lymphangiosarcoma lymphangiosarcoma, malignant NCIT:C3205 MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym malignant lymphangioendothelioma malignant lymphangioendothelioma Malignant Lymphangioendothelioma NCIT:C3205 Lymphangiosarcoma malignant lymphangioendothelioma NCIT:C3205 @@ -33365,8 +32934,8 @@ MONDO:0006286 major salivary gland mucoepidermoid carcinoma oio:hasExactSynonym MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym Dedifferentiated giant cell tumor Dedifferentiated giant cell tumor Dedifferentiated Giant Cell Tumor NCIT:C4304 Malignancy in Giant Cell Tumor of Bone Dedifferentiated giant cell tumor NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym OSTEOCLASTOMA, malignant OSTEOCLASTOMA, malignant OSTEOCLASTOMA, MALIGNANT NCIT:C4304 Malignancy in Giant Cell Tumor of Bone OSTEOCLASTOMA, malignant NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell bone sarcoma giant cell bone sarcoma Giant Cell Bone Sarcoma NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell bone sarcoma NCIT:C4304 -MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant cell sarcoma of bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 +MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of the bone giant cell sarcoma of the bone Giant Cell Sarcoma of the Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell sarcoma of the bone NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell tumor of bone, malignant giant cell tumor of bone, malignant Giant cell tumor of bone, malignant NCIT:C4304 Malignancy in Giant Cell Tumor of Bone giant cell tumor of bone, malignant NCIT:C4304 MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym malignancy in giant cell tumor of bone malignancy in giant cell tumor of bone Malignancy in Giant Cell Tumor of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone malignancy in giant cell tumor of bone NCIT:C4304 @@ -33383,8 +32952,8 @@ MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym mali MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant adrenal pheochromocytoma malignant adrenal pheochromocytoma Malignant Adrenal Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma malignant adrenal pheochromocytoma NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant pheochromocytoma malignant pheochromocytoma Malignant Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma malignant pheochromocytoma NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromoblastoma pheochromoblastoma Pheochromoblastoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromoblastoma NCIT:C4220 -MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant Pheochromocytoma, malignant NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 +MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma pheochromocytoma, malignant NCIT:C4220 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell neoplasm malignant germ cell neoplasm Malignant Germ Cell Neoplasm NCIT:C4925 Malignant Germ Cell Tumor malignant germ cell neoplasm NCIT:C4925 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell tumor malignant germ cell tumor Malignant Germ Cell Tumor NCIT:C4925 Malignant Germ Cell Tumor malignant germ cell tumor NCIT:C4925 MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant neoplasm of germ cell malignant neoplasm of germ cell Malignant Neoplasm of Germ Cell NCIT:C4925 Malignant Germ Cell Tumor malignant neoplasm of germ cell NCIT:C4925 @@ -33403,8 +32972,8 @@ MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of the mesothelium malignant neoplasm of the mesothelium Malignant Neoplasm of the Mesothelium NCIT:C4456 Malignant Mesothelioma malignant neoplasm of the mesothelium NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of mesothelium malignant tumor of mesothelium Malignant Tumor of Mesothelium NCIT:C4456 Malignant Mesothelioma malignant tumor of mesothelium NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of the mesothelium malignant tumor of the mesothelium Malignant Tumor of the Mesothelium NCIT:C4456 Malignant Mesothelioma malignant tumor of the mesothelium NCIT:C4456 -MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant MESOTHELIOMA, MALIGNANT NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 +MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma mesothelioma, malignant NCIT:C4456 MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of pleura cancer of pleura Cancer of Pleura NCIT:C3547 Malignant Pleural Neoplasm cancer of pleura NCIT:C3547 MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of the pleura cancer of the pleura Cancer of the Pleura NCIT:C3547 Malignant Pleural Neoplasm cancer of the pleura NCIT:C3547 MONDO:0006294 pleural cancer oio:hasExactSynonym malignant neoplasm of pleura malignant neoplasm of pleura Malignant Neoplasm of Pleura NCIT:C3547 Malignant Pleural Neoplasm malignant neoplasm of pleura NCIT:C3547 @@ -33422,8 +32991,8 @@ MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym mediast MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym thymic malignant germ cell tumor thymic malignant germ cell tumor Thymic Malignant Germ Cell Tumor NCIT:C6446 Malignant Mediastinal Germ Cell Tumor thymic malignant germ cell tumor NCIT:C6446 MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma medullomyoblastoma Medullomyoblastoma NCIT:C3706 Medullomyoblastoma medullomyoblastoma NCIT:C3706 MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma with myogenic differentiation medullomyoblastoma with myogenic differentiation Medullomyoblastoma with Myogenic Differentiation NCIT:C3706 Medullomyoblastoma medullomyoblastoma with myogenic differentiation NCIT:C3706 -MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 +MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma metanephric adenoma NCIT:C27253 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of middle Ear epidermoid carcinoma of middle Ear Epidermoid Carcinoma of Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of middle Ear NCIT:C6086 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle Ear epidermoid carcinoma of the middle Ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of the middle Ear NCIT:C6086 MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle ear epidermoid carcinoma of the middle ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma epidermoid carcinoma of the middle ear NCIT:C6086 @@ -33482,10 +33051,10 @@ MONDO:0006326 ocular melanoma with extraocular extension oio:hasExactSynonym oc MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym eye sebaceous carcinoma eye sebaceous carcinoma Eye Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma eye sebaceous carcinoma NCIT:C43340 MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym ocular sebaceous carcinoma ocular sebaceous carcinoma Ocular Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma ocular sebaceous carcinoma NCIT:C43340 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory esthesioneuroblastoma olfactory esthesioneuroblastoma Olfactory Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory esthesioneuroblastoma NCIT:C3789 -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroblastoma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma olfactory neuroepithelioma NCIT:C3789 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoid neoplasm ossifying fibromyxoid neoplasm Ossifying Fibromyxoid Neoplasm NCIT:C6582 Ossifying Fibromyxoid Tumor ossifying fibromyxoid neoplasm NCIT:C6582 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoma ossifying fibromyxoma Ossifying Fibromyxoma NCIT:C6582 Ossifying Fibromyxoid Tumor ossifying fibromyxoma NCIT:C6582 MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym OFMT NCIT:C6582 Ossifying Fibromyxoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFMT NCIT:C6582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -33503,7 +33072,6 @@ MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation oio:hasExactSynonym ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma with squamous differentiation Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation NCIT:C40061 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation ovarian endometrioid adenocarcinoma with squamous differentiation NCIT:C40061 MONDO:0006337 ovarian endometriosis oio:hasExactSynonym ovarian endometriosis ovarian endometriosis Ovarian Endometriosis NCIT:C27628 Ovarian Endometriosis ovarian endometriosis NCIT:C27628 MONDO:0006340 ovarian serous adenofibroma oio:hasExactSynonym ovarian serous adenofibroma ovarian serous adenofibroma Ovarian Serous Adenofibroma NCIT:C40031 Ovarian Serous Adenofibroma ovarian serous adenofibroma NCIT:C40031 -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym malignant ovarian transitional cell neoplasm malignant ovarian transitional cell neoplasm Malignant Ovarian Transitional Cell Neoplasm NCIT:C4270 Malignant Ovarian Brenner Tumor malignant ovarian transitional cell neoplasm NCIT:C4270 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell cancer ovarian transitional cell cancer Ovarian Transitional Cell Cancer NCIT:C5240 Ovarian Transitional Cell Carcinoma ovarian transitional cell cancer NCIT:C5240 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell carcinoma ovarian transitional cell carcinoma Ovarian Transitional Cell Carcinoma NCIT:C5240 Ovarian Transitional Cell Carcinoma ovarian transitional cell carcinoma NCIT:C5240 MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma of ovary transitional cell carcinoma of ovary Transitional Cell Carcinoma of Ovary NCIT:C5240 Ovarian Transitional Cell Carcinoma transitional cell carcinoma of ovary NCIT:C5240 @@ -33543,11 +33111,11 @@ MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell NEC G3 pancreatic small cell NEC G3 Pancreatic Small Cell NEC G3 NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma pancreatic small cell NEC G3 NCIT:C95583 MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell neuroendocrine carcinoma pancreatic small cell neuroendocrine carcinoma Pancreatic Small Cell Neuroendocrine Carcinoma NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma pancreatic small cell neuroendocrine carcinoma NCIT:C95583 MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic neoplasm papillary cystic neoplasm Papillary Cystic Neoplasm NCIT:C4179 Papillary Cystic Neoplasm papillary cystic neoplasm NCIT:C4179 -MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary Cystic Tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 +MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm papillary cystic tumor NCIT:C4179 MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional carcinoma papillary transitional carcinoma Papillary Transitional Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional carcinoma NCIT:C4122 -MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary Transitional Cell Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 +MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma papillary transitional cell carcinoma NCIT:C4122 MONDO:0006351 parachordoma oio:hasExactSynonym parachordoma parachordoma Parachordoma NCIT:C6581 Parachordoma parachordoma NCIT:C6581 MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym accessory sinus adenoid cystic carcinoma accessory sinus adenoid cystic carcinoma Accessory Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma accessory sinus adenoid cystic carcinoma NCIT:C6019 MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma adenoid cystic carcinoma of accessory sinus NCIT:C6019 @@ -33601,8 +33169,8 @@ MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharyngea MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharynx adenoid cystic carcinoma pharynx adenoid cystic carcinoma Pharynx Adenoid Cystic Carcinoma NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma pharynx adenoid cystic carcinoma NCIT:C5818 MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor phosphaturic mesenchymal tumor Phosphaturic Mesenchymal Tumor NCIT:C67237 Phosphaturic Mesenchymal Tumor phosphaturic mesenchymal tumor NCIT:C67237 MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor, mixed connective tissue type phosphaturic mesenchymal tumor, mixed connective tissue type Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type NCIT:C67237 Phosphaturic Mesenchymal Tumor phosphaturic mesenchymal tumor, mixed connective tissue type NCIT:C67237 -MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumor of intermediate differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation pineal parenchymal tumor of intermediate differentiation NCIT:C6967 MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma pituicytoma Pituicytoma NCIT:C94524 Pituicytoma pituicytoma NCIT:C94524 MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma (WHO grade I) pituicytoma (WHO grade I) Pituicytoma (WHO Grade I) NCIT:C94524 Pituicytoma pituicytoma (WHO grade I) NCIT:C94524 MONDO:0006372 pituicytoma oio:hasExactSynonym posterior pituitary astrocytoma posterior pituitary astrocytoma Posterior Pituitary Astrocytoma NCIT:C94524 Pituicytoma posterior pituitary astrocytoma NCIT:C94524 @@ -33622,8 +33190,8 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym placental hemangioma pla MONDO:0006377 pleural biphasic mesothelioma oio:hasExactSynonym pleural biphasic mesothelioma pleural biphasic mesothelioma Pleural Biphasic Mesothelioma NCIT:C45665 Pleural Biphasic Mesothelioma pleural biphasic mesothelioma NCIT:C45665 MONDO:0006378 pleural epithelioid mesothelioma oio:hasExactSynonym pleural epithelioid mesothelioma pleural epithelioid mesothelioma Pleural Epithelioid Mesothelioma NCIT:C45662 Pleural Epithelioid Mesothelioma pleural epithelioid mesothelioma NCIT:C45662 MONDO:0006380 pleural sarcomatoid mesothelioma oio:hasExactSynonym pleural sarcomatoid mesothelioma pleural sarcomatoid mesothelioma Pleural Sarcomatoid Mesothelioma NCIT:C45663 Pleural Sarcomatoid Mesothelioma pleural sarcomatoid mesothelioma NCIT:C45663 -MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 +MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma insular carcinoma NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of the thyroid gland poorly differentiated carcinoma of the thyroid gland Poorly Differentiated Carcinoma of the Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated carcinoma of the thyroid gland NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of thyroid gland poorly differentiated carcinoma of thyroid gland Poorly Differentiated Carcinoma of Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated carcinoma of thyroid gland NCIT:C6040 MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated thyroid carcinoma poorly differentiated thyroid carcinoma Poorly Differentiated Thyroid Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma poorly differentiated thyroid carcinoma NCIT:C6040 @@ -33727,10 +33295,10 @@ MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cel MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cell undifferentiated salivary gland carcinoma large cell undifferentiated salivary gland carcinoma Large Cell Undifferentiated Salivary Gland Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma large cell undifferentiated salivary gland carcinoma NCIT:C35735 MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym salivary gland large cell carcinoma salivary gland large cell carcinoma Salivary Gland Large Cell Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma salivary gland large cell carcinoma NCIT:C35735 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym carcinoma, spindle cell, malignant carcinoma, spindle cell, malignant CARCINOMA, SPINDLE CELL, MALIGNANT NCIT:C27004 Sarcomatoid Carcinoma carcinoma, spindle cell, malignant NCIT:C27004 -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous Carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma pseudosarcomatous carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma sarcomatoid carcinoma NCIT:C27004 MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym spindle cell carcinoma spindle cell carcinoma Spindle Cell Carcinoma NCIT:C27004 Sarcomatoid Carcinoma spindle cell carcinoma NCIT:C27004 MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid Mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma sarcomatoid mesothelioma NCIT:C45655 MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma sarcomatoid mesothelioma NCIT:C45655 @@ -33836,8 +33404,8 @@ MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym fibroma of the tendon s MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym tendon sheath fibroma tendon sheath fibroma Tendon Sheath Fibroma NCIT:C6485 Tendon Sheath Fibroma tendon sheath fibroma NCIT:C6485 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid cyst with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy dermoid cyst with malignant transformation NCIT:C4289 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid Cyst with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy dermoid cyst with malignant transformation NCIT:C4289 -MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 +MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy teratoma with malignant transformation NCIT:C4289 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of testis embryonal carcinoma of testis Embryonal Carcinoma of Testis NCIT:C6341 Testicular Embryonal Carcinoma embryonal carcinoma of testis NCIT:C6341 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the testis embryonal carcinoma of the testis Embryonal Carcinoma of the Testis NCIT:C6341 Testicular Embryonal Carcinoma embryonal carcinoma of the testis NCIT:C6341 MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym testicular embryonal carcinoma testicular embryonal carcinoma Testicular Embryonal Carcinoma NCIT:C6341 Testicular Embryonal Carcinoma testicular embryonal carcinoma NCIT:C6341 @@ -33866,8 +33434,8 @@ MONDO:0006458 thymoma type B3 oio:hasExactSynonym epithelial thymoma epithelial MONDO:0006458 thymoma type B3 oio:hasExactSynonym malignant thymoma type B3 malignant thymoma type B3 Malignant Thymoma Type B3 NCIT:C7997 Thymoma Type B3 malignant thymoma type B3 NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym squamoid thymoma squamoid thymoma Squamoid Thymoma NCIT:C7997 Thymoma Type B3 squamoid thymoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym thymoma type B3 thymoma type B3 Thymoma Type B3 NCIT:C7997 Thymoma Type B3 thymoma type B3 NCIT:C7997 -MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 +MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 well differentiated thymic carcinoma NCIT:C7997 MONDO:0006458 thymoma type B3 oio:hasExactSynonym well-differentiated thymic carcinoma well-differentiated thymic carcinoma Well-Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 well-differentiated thymic carcinoma NCIT:C7997 MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-predominant thymoma lymphocyte-predominant thymoma Lymphocyte-Predominant Thymoma NCIT:C6887 Thymoma Type B1 lymphocyte-predominant thymoma NCIT:C6887 MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-rich thymoma lymphocyte-rich thymoma Lymphocyte-Rich Thymoma NCIT:C6887 Thymoma Type B1 lymphocyte-rich thymoma NCIT:C6887 @@ -33910,8 +33478,8 @@ MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExact MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid carcinoma undifferentiated thyroid carcinoma Undifferentiated Thyroid Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid carcinoma NCIT:C3878 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid gland carcinoma undifferentiated thyroid gland carcinoma Undifferentiated Thyroid Gland Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid gland carcinoma NCIT:C3878 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid tumor undifferentiated thyroid tumor Undifferentiated Thyroid Tumor NCIT:C3878 Thyroid Gland Anaplastic Carcinoma undifferentiated thyroid tumor NCIT:C3878 -MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 +MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma tibial adamantinoma NCIT:C8461 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of the tonsil SCC of the tonsil SCC of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma SCC of the tonsil NCIT:C8183 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of tonsil SCC of tonsil SCC of Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma SCC of tonsil NCIT:C8183 MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tonsil squamous cell carcinoma of the tonsil Squamous Cell Carcinoma of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma squamous cell carcinoma of the tonsil NCIT:C8183 @@ -33924,8 +33492,8 @@ MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym adenoid cys MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym trachea adenoid cystic carcinoma trachea adenoid cystic carcinoma Trachea Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma trachea adenoid cystic carcinoma NCIT:C6051 MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym tracheal adenoid cystic carcinoma tracheal adenoid cystic carcinoma Tracheal Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma tracheal adenoid cystic carcinoma NCIT:C6051 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym carcinoma, urothelial, malignant carcinoma, urothelial, malignant CARCINOMA, UROTHELIAL, MALIGNANT NCIT:C2930 Transitional Cell Carcinoma carcinoma, urothelial, malignant NCIT:C2930 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional Carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 +MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional Cell Carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional cell carcinoma NCIT:C2930 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional cell carcinoma NCIT:C2930 Transitional Cell Carcinoma transitional cell carcinoma NCIT:C2930 MONDO:0006476 undifferentiated gallbladder carcinoma oio:hasExactSynonym anaplastic carcinoma of gallbladder anaplastic carcinoma of gallbladder Anaplastic Carcinoma of Gallbladder NCIT:C9167 Gallbladder Undifferentiated Carcinoma anaplastic carcinoma of gallbladder NCIT:C9167 @@ -33995,16 +33563,16 @@ MONDO:0006489 vaginal melanoma oio:hasExactSynonym vaginal melanoma vaginal mel MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell carcinoma vaginal squamous cell carcinoma Vaginal Squamous Cell Carcinoma NCIT:C180915 Vaginal Squamous Cell Carcinoma vaginal squamous cell carcinoma NCIT:C180915 MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell cancer, NOS vaginal squamous cell cancer, NOS Vaginal Squamous Cell Cancer, NOS NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified vaginal squamous cell cancer, NOS NCIT:C7736 MONDO:0006491 vulvar lichen sclerosus oio:hasExactSynonym vulvar lichen sclerosus vulvar lichen sclerosus Vulvar Lichen Sclerosus NCIT:C27723 Vulvar Lichen Sclerosus vulvar lichen sclerosus NCIT:C27723 -MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor Warthin tumor Warthin Tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 +MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor Warthin tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin's tumor Warthin's tumor Warthin's Tumor NCIT:C2854 Warthin Tumor Warthin's tumor NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym adenolymphoma adenolymphoma Adenolymphoma NCIT:C2854 Warthin Tumor adenolymphoma NCIT:C2854 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of colon adenomatous polyp of colon Adenomatous Polyp of Colon NCIT:C96479 Colon Adenomatous Polyp adenomatous polyp of colon NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of the colon adenomatous polyp of the colon Adenomatous Polyp of the Colon NCIT:C96479 Colon Adenomatous Polyp adenomatous polyp of the colon NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colon adenomatous polyp colon adenomatous polyp Colon Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp colon adenomatous polyp NCIT:C96479 MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colonic adenomatous polyp colonic adenomatous polyp Colonic Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp colonic adenomatous polyp NCIT:C96479 -MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma hamartoma NCIT:C3075 MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma HAMARTOMA NCIT:C3075 Hamartoma hamartoma NCIT:C3075 +MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma hamartoma NCIT:C3075 MONDO:0006500 hemangioma oio:hasExactSynonym benign hemangioma benign hemangioma Benign Hemangioma NCIT:C3085 Hemangioma benign hemangioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma hemangioma Hemangioma NCIT:C3085 Hemangioma hemangioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma, benign hemangioma, benign HEMANGIOMA, BENIGN NCIT:C3085 Hemangioma hemangioma, benign NCIT:C3085 @@ -34024,14 +33592,11 @@ MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal neoplasm malig MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal tumor malignant rectal tumor Malignant Rectal Tumor NCIT:C7418 Malignant Rectal Neoplasm malignant rectal tumor NCIT:C7418 MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of rectum malignant tumor of rectum Malignant Tumor of Rectum NCIT:C7418 Malignant Rectal Neoplasm malignant tumor of rectum NCIT:C7418 MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of the rectum malignant tumor of the rectum Malignant Tumor of the Rectum NCIT:C7418 Malignant Rectal Neoplasm malignant tumor of the rectum NCIT:C7418 -MONDO:0006519 rectal cancer oio:hasExactSynonym cancer of rectum cancer of rectum Cancer of Rectum NCIT:C9382 Rectal Carcinoma cancer of rectum NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma rectal cancer NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym rectum cancer rectum cancer Rectum Cancer NCIT:C9382 Rectal Carcinoma rectum cancer NCIT:C9382 MONDO:0006520 Achenbach syndrome oio:hasExactSynonym Achenbach syndrome Achenbach syndrome Achenbach Syndrome NCIT:C35467 Achenbach Syndrome Achenbach syndrome NCIT:C35467 MONDO:0006522 acquired keratosis oio:hasExactSynonym acquired keratoderma acquired keratoderma Acquired Keratoderma NCIT:C34746 Acquired Keratoderma acquired keratoderma NCIT:C34746 MONDO:0006525 allergic contact dermatitis oio:hasExactSynonym allergic contact dermatitis allergic contact dermatitis Allergic Contact Dermatitis NCIT:C26998 Allergic Contact Dermatitis allergic contact dermatitis NCIT:C26998 -MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma Cholesteatoma NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 +MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma cholesteatoma NCIT:C2944 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of middle ear cholesteatoma of middle ear Cholesteatoma of Middle Ear NCIT:C3654 Middle Ear Cholesteatoma cholesteatoma of middle ear NCIT:C3654 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of the middle ear cholesteatoma of the middle ear Cholesteatoma of the Middle Ear NCIT:C3654 Middle Ear Cholesteatoma cholesteatoma of the middle ear NCIT:C3654 MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym middle ear cholesteatoma middle ear cholesteatoma Middle Ear Cholesteatoma NCIT:C3654 Middle Ear Cholesteatoma middle ear cholesteatoma NCIT:C3654 @@ -34124,13 +33689,11 @@ MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym eosinophil MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym pituitary gland acidophil adenoma pituitary gland acidophil adenoma Pituitary Gland Acidophil Adenoma NCIT:C6780 Pituitary Gland Acidophil Adenoma pituitary gland acidophil adenoma NCIT:C6780 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal failure with tubular necrosis acute renal failure with tubular necrosis Acute Renal Failure with Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis acute renal failure with tubular necrosis NCIT:C34749 MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis acute tubular necrosis Acute Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis acute tubular necrosis NCIT:C34749 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma NCIT:C2970 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma NCIT:C2970 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adenocarcinoma, adrenocortical, malignant adenocarcinoma, adrenocortical, malignant Adenocarcinoma, Adrenocortical, Malignant NCIT:C9325 Adrenal Cortical Carcinoma adenocarcinoma, adrenocortical, malignant NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex adenocarcinoma adrenal cortex adenocarcinoma Adrenal Cortex Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex carcinoma adrenal cortex carcinoma Adrenal Cortex Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex carcinoma NCIT:C9325 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal Cortical Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 +MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical adenocarcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal Cortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical carcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortical carcinoma NCIT:C9325 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma adrenocortical carcinoma Adrenocortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma adrenocortical carcinoma NCIT:C9325 @@ -34142,8 +33705,8 @@ MONDO:0006643 alcoholic cardiomyopathy oio:hasExactSynonym alcoholic cardiomyop MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym alcoholic cirrhosis alcoholic cirrhosis Alcoholic Cirrhosis NCIT:C34782 Alcoholic Cirrhosis alcoholic cirrhosis NCIT:C34782 MONDO:0006646 angioleiomyoma oio:hasExactSynonym angioleiomyoma angioleiomyoma Angioleiomyoma NCIT:C3747 Angioleiomyoma angioleiomyoma NCIT:C3747 MONDO:0006646 angioleiomyoma oio:hasExactSynonym angiomyoma angiomyoma Angiomyoma NCIT:C3747 Angioleiomyoma angiomyoma NCIT:C3747 -MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular Leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 +MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma vascular leiomyoma NCIT:C3747 MONDO:0006651 anterior uveitis oio:hasExactSynonym anterior uveitis anterior uveitis Anterior Uveitis NCIT:C35109 Anterior Uveitis anterior uveitis NCIT:C35109 MONDO:0006654 anthracosis oio:hasExactSynonym coal miner's pneumoconiosis coal miner's pneumoconiosis Coal Miner's Pneumoconiosis NCIT:C34390 Anthracosis coal miner's pneumoconiosis NCIT:C34390 MONDO:0006660 arthus reaction oio:hasExactSynonym arthus phenomenon arthus phenomenon Arthus Phenomenon NCIT:C34400 Arthus Reaction arthus phenomenon NCIT:C34400 @@ -34212,12 +33775,9 @@ MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign neoplasm of t MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of duodenum benign tumor of duodenum Benign Tumor of Duodenum NCIT:C4775 Benign Duodenal Neoplasm benign tumor of duodenum NCIT:C4775 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of the duodenum benign tumor of the duodenum Benign Tumor of the Duodenum NCIT:C4775 Benign Duodenal Neoplasm benign tumor of the duodenum NCIT:C4775 MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym poroma poroma Poroma NCIT:C27273 Poroma poroma NCIT:C27273 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma eccrine acrospiroma NCIT:C7563 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma eccrine acrospiroma NCIT:C7563 MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella empty sella Empty Sella NCIT:C84686 Empty Sella Syndrome empty sella NCIT:C84686 MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome empty sella syndrome Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome empty sella syndrome NCIT:C84686 MONDO:0006742 endemic goiter oio:hasExactSynonym simple goiter simple goiter Simple Goiter NCIT:C35023 Endemic Goiter simple goiter NCIT:C35023 -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome Empty Sella Syndrome NCIT:C84686 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma endometrial stromal sarcoma Endometrial Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma endometrial stromal sarcoma NCIT:C8973 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrioid stromal sarcoma endometrioid stromal sarcoma Endometrioid Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma endometrioid stromal sarcoma NCIT:C8973 MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym stromal sarcoma, endometrial, malignant stromal sarcoma, endometrial, malignant STROMAL SARCOMA, ENDOMETRIAL, MALIGNANT NCIT:C8973 Endometrioid Stromal Sarcoma stromal sarcoma, endometrial, malignant NCIT:C8973 @@ -34269,17 +33829,17 @@ MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis Carcin MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis carcinomatosa mastitis carcinomatosa Mastitis Carcinomatosa NCIT:C4001 Breast Inflammatory Carcinoma mastitis carcinomatosa NCIT:C4001 MONDO:0006806 intermediate uveitis oio:hasExactSynonym intermediate uveitis intermediate uveitis Intermediate Uveitis NCIT:C35110 Intermediate Uveitis intermediate uveitis NCIT:C35110 MONDO:0006807 intestinal perforation oio:hasExactSynonym perforation of intestine perforation of intestine Perforation of Intestine NCIT:C39611 Intestinal Perforation perforation of intestine NCIT:C39611 -MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal Nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 +MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus dermal Nevus NCIT:C3804 MONDO:0006814 iritis oio:hasExactSynonym iritis iritis Iritis NCIT:C50621 Iritis iritis NCIT:C50621 MONDO:0006816 arthropathy oio:hasExactSynonym Joint disorder Joint disorder Joint Disorder NCIT:C35760 Arthropathy Joint disorder NCIT:C35760 MONDO:0006816 arthropathy oio:hasExactSynonym arthropathy arthropathy Arthropathy NCIT:C35760 Arthropathy arthropathy NCIT:C35760 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteogenic sarcoma juxtacortical osteogenic sarcoma Juxtacortical Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteogenic sarcoma NCIT:C8969 -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma juxtacortical osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteogenic sarcoma parosteal osteogenic sarcoma Parosteal Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteogenic sarcoma NCIT:C8969 -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma parosteal osteosarcoma NCIT:C8969 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym 47,XXY syndrome 47,XXY syndrome 47,XXY Syndrome NCIT:C34752 Klinefelter Syndrome 47,XXY syndrome NCIT:C34752 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter syndrome Klinefelter syndrome Klinefelter Syndrome NCIT:C34752 Klinefelter Syndrome Klinefelter syndrome NCIT:C34752 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter's syndrome Klinefelter's syndrome Klinefelter's Syndrome NCIT:C34752 Klinefelter Syndrome Klinefelter's syndrome NCIT:C34752 @@ -34295,7 +33855,6 @@ MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasE MONDO:0006830 leukoplakia of penis oio:hasExactSynonym kraurosis penis kraurosis penis Kraurosis Penis NCIT:C3151 Penile Leukoplakia kraurosis penis NCIT:C3151 MONDO:0006830 leukoplakia of penis oio:hasExactSynonym leukoplakia of the penis leukoplakia of the penis Leukoplakia of the Penis NCIT:C3151 Penile Leukoplakia leukoplakia of the penis NCIT:C3151 MONDO:0006830 leukoplakia of penis oio:hasExactSynonym penile leukoplakia penile leukoplakia Penile Leukoplakia NCIT:C3151 Penile Leukoplakia penile leukoplakia NCIT:C3151 -MONDO:0006834 lip cancer oio:hasExactSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma lip cancer NCIT:C3490 MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip neoplasm malignant Lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm malignant Lip neoplasm NCIT:C7485 MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip tumor malignant Lip tumor Malignant Lip Tumor NCIT:C7485 Malignant Lip Neoplasm malignant Lip tumor NCIT:C7485 MONDO:0006834 lip cancer oio:hasExactSynonym malignant lip neoplasm malignant lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm malignant lip neoplasm NCIT:C7485 @@ -34320,14 +33879,11 @@ MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of maxillar MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of the maxillary sinus neoplasm of the maxillary sinus Neoplasm of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm neoplasm of the maxillary sinus NCIT:C3219 MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of maxillary sinus tumor of maxillary sinus Tumor of Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm tumor of maxillary sinus NCIT:C3219 MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of the maxillary sinus tumor of the maxillary sinus Tumor of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm tumor of the maxillary sinus NCIT:C3219 -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym meconium aspiration syndrome meconium aspiration syndrome Meconium Aspiration Syndrome NCIT:C87093 Meconium Aspiration Syndrome meconium aspiration syndrome NCIT:C87093 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym neonatal aspiration of meconium neonatal aspiration of meconium Neonatal Aspiration of Meconium NCIT:C87093 Meconium Aspiration Syndrome neonatal aspiration of meconium NCIT:C87093 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C27374 -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 +MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma mesenchymal chondrosarcoma NCIT:C3737 MONDO:0006854 mesenchymoma oio:hasExactSynonym mesenchymoma mesenchymoma Mesenchymoma NCIT:C3233 Mesenchymoma mesenchymoma NCIT:C3233 MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial neoplasm mesothelial neoplasm Mesothelial Neoplasm NCIT:C3786 Mesothelial Neoplasm mesothelial neoplasm NCIT:C3786 MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial tumor mesothelial tumor Mesothelial Tumor NCIT:C3786 Mesothelial Neoplasm mesothelial tumor NCIT:C3786 @@ -34337,13 +33893,13 @@ MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym adenoma, mucinous, benig MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous adenoma NCIT:C2973 Mucinous Cystadenoma mucinous adenoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous Adenoma NCIT:C2973 Mucinous Cystadenoma mucinous adenoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystadenoma mucinous cystadenoma Mucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma mucinous cystadenoma NCIT:C2973 -MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 +MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma mucinous cystoma NCIT:C2973 MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym pseudomucinous cystadenoma pseudomucinous cystadenoma Pseudomucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma pseudomucinous cystadenoma NCIT:C2973 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym chloroma chloroma Chloroma NCIT:C3520 Myeloid Sarcoma chloroma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym extramedullary myeloid tumor extramedullary myeloid tumor Extramedullary Myeloid Tumor NCIT:C3520 Myeloid Sarcoma extramedullary myeloid tumor NCIT:C3520 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 +MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma myeloid sarcoma NCIT:C3520 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym sarcoma, myeloid, malignant sarcoma, myeloid, malignant SARCOMA, MYELOID, MALIGNANT NCIT:C3520 Myeloid Sarcoma sarcoma, myeloid, malignant NCIT:C3520 MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma myxosarcoma Myxosarcoma NCIT:C3255 Myxosarcoma myxosarcoma NCIT:C3255 MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma, malignant myxosarcoma, malignant MYXOSARCOMA, MALIGNANT NCIT:C3255 Myxosarcoma myxosarcoma, malignant NCIT:C3255 @@ -34412,13 +33968,13 @@ MONDO:0006964 secondary hyperparathyroidism oio:hasExactSynonym secondary hyper MONDO:0006966 secondary Parkinson disease oio:hasExactSynonym secondary Parkinsonism secondary Parkinsonism Secondary Parkinsonism NCIT:C34899 Secondary Parkinsonism secondary Parkinsonism NCIT:C34899 MONDO:0006969 sialadenitis oio:hasExactSynonym sialitis sialitis Sialitis NCIT:C115165 Sialitis sialitis NCIT:C115165 MONDO:0006969 sialadenitis oio:hasExactSynonym sialoadenitis sialoadenitis Sialoadenitis NCIT:C26882 Sialadenitis sialoadenitis NCIT:C26882 -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma adnexal carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of adnexa carcinoma of adnexa Carcinoma of Adnexa NCIT:C3775 Adnexal Carcinoma carcinoma of adnexa NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of skin appendage carcinoma of skin appendage Carcinoma of Skin Appendage NCIT:C3775 Adnexal Carcinoma carcinoma of skin appendage NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma, adnexal, malignant carcinoma, adnexal, malignant CARCINOMA, ADNEXAL, MALIGNANT NCIT:C3775 Adnexal Carcinoma carcinoma, adnexal, malignant NCIT:C3775 -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin Appendage Carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma skin appendage carcinoma NCIT:C3775 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small cell sarcoma NCIT:C3746 Small Cell Sarcoma small cell sarcoma NCIT:C3746 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small Cell Sarcoma NCIT:C3746 Small Cell Sarcoma small cell sarcoma NCIT:C3746 MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcomas small cell sarcomas Small Cell Sarcomas NCIT:C3746 Small Cell Sarcoma small cell sarcomas NCIT:C3746 @@ -34451,7 +34007,6 @@ MONDO:0006989 suppurative periapical periodontitis oio:hasExactSynonym periapic MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym spinal cord syndrome spinal cord syndrome Spinal Cord Syndrome NCIT:C99080 Tethered Spinal Cord Syndrome spinal cord syndrome NCIT:C99080 MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym tethered cord tethered cord Tethered Cord NCIT:C99080 Tethered Spinal Cord Syndrome tethered cord NCIT:C99080 MONDO:0006996 thyroid crisis oio:hasExactSynonym thyroid storm thyroid storm Thyroid Storm NCIT:C112836 Thyroid Storm thyroid storm NCIT:C112836 -MONDO:0006998 tonsil cancer oio:hasExactSynonym tonsil cancer tonsil cancer Tonsil Cancer NCIT:C4825 Tonsillar Carcinoma tonsil cancer NCIT:C4825 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of the tonsil malignant neoplasm of the tonsil Malignant Neoplasm of the Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm malignant neoplasm of the tonsil NCIT:C7404 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of tonsil malignant neoplasm of tonsil Malignant Neoplasm of Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm malignant neoplasm of tonsil NCIT:C7404 MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant tonsil neoplasm malignant tonsil neoplasm Malignant Tonsil Neoplasm NCIT:C7404 Malignant Tonsillar Neoplasm malignant tonsil neoplasm NCIT:C7404 @@ -34512,7 +34067,6 @@ MONDO:0007074 ainhum oio:hasExactSynonym ainhum ainhum Ainhum NCIT:C84544 Ainhu MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism Type 1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Pseudohypoparathyroidism type 1A NCIT:C129721 MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym PHP1A PHP1A PHP1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHP1A NCIT:C129721 -MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 MONDO:0007079 alcohol dependence oio:hasExactSynonym alcohol dependence alcohol dependence Alcohol Dependence NCIT:C93040 Alcohol Dependence alcohol dependence NCIT:C93040 MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym amyloid neuropathies, familial amyloid neuropathies, familial Amyloid Neuropathies, Familial NCIT:C84554 Familial Amyloid Neuropathy amyloid neuropathies, familial NCIT:C84554 MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym familial amyloid polyneuropathy familial amyloid polyneuropathy Familial Amyloid Polyneuropathy NCIT:C84554 Familial Amyloid Neuropathy familial amyloid polyneuropathy NCIT:C84554 @@ -34536,8 +34090,8 @@ MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congeni MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome obstructive sleep apnea syndrome Obstructive Sleep Apnea Syndrome NCIT:C27168 Obstructive Sleep Apnea Syndrome obstructive sleep apnea syndrome NCIT:C27168 MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym cerebral arteriovenous malformation cerebral arteriovenous malformation Cerebral Arteriovenous Malformation NCIT:C2936 Cerebral Arteriovenous Malformation/Hemangioma cerebral arteriovenous malformation NCIT:C2936 MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym Stickler syndrome type 1 Stickler syndrome type 1 Stickler Syndrome Type 1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Stickler syndrome type 1 NCIT:C168733 -MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 +MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease autoimmune disease NCIT:C2889 MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disorder autoimmune disorder Autoimmune Disorder NCIT:C2889 Autoimmune Disease autoimmune disorder NCIT:C2889 MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym Machado-Joseph disease Machado-Joseph disease Machado-Joseph Disease NCIT:C84830 Spinocerebellar Ataxia Type 3 Machado-Joseph disease NCIT:C84830 MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym spinocerebellar ataxia type 3 spinocerebellar ataxia type 3 Spinocerebellar Ataxia Type 3 NCIT:C84830 Spinocerebellar Ataxia Type 3 spinocerebellar ataxia type 3 NCIT:C84830 @@ -34564,8 +34118,8 @@ MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym bean syndrome bean syn MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym blue rubber bleb nevus blue rubber bleb nevus Blue Rubber Bleb Nevus NCIT:C4486 Blue Rubber Bleb Nevus blue rubber bleb nevus NCIT:C4486 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym Hardcastle's syndrome Hardcastle's syndrome Hardcastle's Syndrome NCIT:C122660 Hardcastle's Syndrome Hardcastle's syndrome NCIT:C122660 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym DMS-MFH NCIT:C122660 Hardcastle's Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMS-MFH NCIT:C122660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 +MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant branchial cleft NCIT:C104813 MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft remnant branchial cleft remnant Branchial Cleft Remnant NCIT:C104813 Branchial Cleft Remnant branchial cleft remnant NCIT:C104813 MONDO:0007238 amastia oio:hasExactSynonym amastia amastia Amastia NCIT:C118459 Amastia amastia NCIT:C118459 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym Lenegre's disease Lenegre's disease Lenegre's Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia Lenegre's disease NCIT:C126651 @@ -34576,11 +34130,8 @@ MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym Burkitt's lymphoma Burkitt's MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym small non-cleaved cell lymphoma, Burkitt's type small non-cleaved cell lymphoma, Burkitt's type Small Non-Cleaved Cell Lymphoma, Burkitt's Type NCIT:C2912 Burkitt Lymphoma small non-cleaved cell lymphoma, Burkitt's type NCIT:C2912 MONDO:0007244 Caffey disease oio:hasExactSynonym Caffey disease Caffey disease Caffey Disease NCIT:C118423 Infantile Cortical Hyperostosis Caffey disease NCIT:C118423 MONDO:0007244 Caffey disease oio:hasExactSynonym infantile cortical hyperostosis infantile cortical hyperostosis Infantile Cortical Hyperostosis NCIT:C118423 Infantile Cortical Hyperostosis infantile cortical hyperostosis NCIT:C118423 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic Dysplasia NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia NCIT:C84609 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007254 breast cancer oio:hasExactSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma breast cancer NCIT:C4872 -MONDO:0007254 breast cancer oio:hasExactSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma cancer of breast NCIT:C4872 MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast neoplasm malignant breast neoplasm Malignant Breast Neoplasm NCIT:C9335 Malignant Breast Neoplasm malignant breast neoplasm NCIT:C9335 MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast tumor malignant breast tumor Malignant Breast Tumor NCIT:C9335 Malignant Breast Neoplasm malignant breast tumor NCIT:C9335 MONDO:0007254 breast cancer oio:hasExactSynonym malignant neoplasm of breast malignant neoplasm of breast Malignant Neoplasm of Breast NCIT:C9335 Malignant Breast Neoplasm malignant neoplasm of breast NCIT:C9335 @@ -34594,14 +34145,11 @@ MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cance MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma hepatocellular carcinoma Hepatocellular Carcinoma NCIT:C3099 Hepatocellular Carcinoma hepatocellular carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatoma hepatoma Hepatoma NCIT:C3099 Hepatocellular Carcinoma hepatoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell cancer (hepatocellular carcinoma) liver cell cancer (hepatocellular carcinoma) Liver Cell Cancer (Hepatocellular Carcinoma) NCIT:C3099 Hepatocellular Carcinoma liver cell cancer (hepatocellular carcinoma) NCIT:C3099 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver cell carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 +MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma liver cell carcinoma NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of liver cells primary carcinoma of liver cells Primary Carcinoma of Liver Cells NCIT:C3099 Hepatocellular Carcinoma primary carcinoma of liver cells NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of the liver cells primary carcinoma of the liver cells Primary Carcinoma of the Liver Cells NCIT:C3099 Hepatocellular Carcinoma primary carcinoma of the liver cells NCIT:C3099 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym HCC NCIT:C3099 Hepatocellular Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCC NCIT:C3099 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma liver carcinoma NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma hepatocellular cancer NCIT:C7955 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma hepatocellular cancer NCIT:C7956 MONDO:0007263 cardiac rhythm disease oio:hasExactSynonym arrhythmia arrhythmia Arrhythmia NCIT:C2881 Arrhythmia arrhythmia NCIT:C2881 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym familial hypertrophic cardiomyopathy type 2 familial hypertrophic cardiomyopathy type 2 Familial Hypertrophic Cardiomyopathy Type 2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 familial hypertrophic cardiomyopathy type 2 NCIT:C142892 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym CMH2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMH2 NCIT:C142892 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -34714,7 +34262,6 @@ MONDO:0007496 dystonia 12 oio:hasExactSynonym DYT12 NCIT:C157577 Dystonia 12 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type oio:hasExactSynonym Ehlers-Danlos syndrome, type III Ehlers-Danlos syndrome, type III Ehlers-Danlos Syndrome, Type III NCIT:C125698 Ehlers-Danlos Syndrome, Type III Ehlers-Danlos syndrome, type III NCIT:C125698 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym Ehlers-Danlos syndrome, type VII Ehlers-Danlos syndrome, type VII Ehlers-Danlos Syndrome, Type VII NCIT:C125701 Ehlers-Danlos Syndrome, Type VII Ehlers-Danlos syndrome, type VII NCIT:C125701 MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome NCIT:C34415 Beckwith-Wiedemann Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Beckwith-Wiedemann syndrome NCIT:C34415 -MONDO:0007536 congenital lobar emphysema oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type 1 MEA type 1 MEA Type 1 NCIT:C3225 Multiple Endocrine Neoplasia Type 1 MEA type 1 NCIT:C3225 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type I MEA type I MEA Type I NCIT:C3225 Multiple Endocrine Neoplasia Type 1 MEA type I NCIT:C3225 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym Wermer syndrome Wermer syndrome Wermer Syndrome NCIT:C3225 Multiple Endocrine Neoplasia Type 1 Wermer syndrome NCIT:C3225 @@ -34755,8 +34302,6 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self healing epithelioma of Ferguson-Smith multiple self healing epithelioma of Ferguson-Smith Multiple Self Healing Epithelioma of Ferguson-Smith NCIT:C4461 Multiple Self Healing Epithelioma of Ferguson-Smith multiple self healing epithelioma of Ferguson-Smith NCIT:C4461 MONDO:0007571 primary erythermalgia oio:hasExactSynonym primary erythromelalgia primary erythromelalgia Primary Erythromelalgia NCIT:C125383 Primary Erythromelalgia primary erythromelalgia NCIT:C125383 MONDO:0007571 primary erythermalgia oio:hasExactSynonym PERYTHM NCIT:C125383 Primary Erythromelalgia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PERYTHM NCIT:C125383 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma cancer of esophagus NCIT:C3513 -MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma esophageal cancer NCIT:C3513 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal neoplasm malignant esophageal neoplasm Malignant Esophageal Neoplasm NCIT:C7478 Malignant Esophageal Neoplasm malignant esophageal neoplasm NCIT:C7478 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal tumor malignant esophageal tumor Malignant Esophageal Tumor NCIT:C7478 Malignant Esophageal Neoplasm malignant esophageal tumor NCIT:C7478 MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophagus tumor malignant esophagus tumor Malignant Esophagus Tumor NCIT:C7478 Malignant Esophageal Neoplasm malignant esophagus tumor NCIT:C7478 @@ -34787,8 +34332,8 @@ MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone B-cell MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym Immunocytoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Immunocytoma NCIT:C3898 -MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 +MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALT lymphoma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALToma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue MALToma NCIT:C3898 MONDO:0007650 MALT lymphoma oio:hasExactSynonym mucosa-associated lymphoid tissue lymphoma mucosa-associated lymphoid tissue lymphoma Mucosa-Associated Lymphoid Tissue Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue mucosa-associated lymphoid tissue lymphoma NCIT:C3898 MONDO:0007652 gastric mucosal hypertrophy oio:hasExactSynonym MENETRIER disease MENETRIER disease Menetrier Disease NCIT:C67277 Giant Hypertrophic Gastritis MENETRIER disease NCIT:C67277 @@ -34802,10 +34347,10 @@ MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym Gerst MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette syndrome Tourette syndrome Tourette Syndrome NCIT:C35078 Tourette Syndrome Tourette syndrome NCIT:C35078 MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette's syndrome Tourette's syndrome Tourette's Syndrome NCIT:C35078 Tourette Syndrome Tourette's syndrome NCIT:C35078 MONDO:0007667 subependymoma oio:hasExactSynonym SUBEPENDYMOMA, benign SUBEPENDYMOMA, benign SUBEPENDYMOMA, BENIGN NCIT:C3795 Subependymoma SUBEPENDYMOMA, benign NCIT:C3795 -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm WHO Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma WHO grade I ependymal neoplasm NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor Who Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma WHO grade I ependymal tumor NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal astrocytoma subependymal astrocytoma Subependymal Astrocytoma NCIT:C3795 Subependymoma subependymal astrocytoma NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal glioma NCIT:C3795 Subependymoma subependymal glioma NCIT:C3795 MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal Glioma NCIT:C3795 Subependymoma subependymal glioma NCIT:C3795 @@ -34816,7 +34361,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym maturity on MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome renal cysts and diabetes syndrome Renal Cysts and Diabetes Syndrome NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome NCIT:C123018 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY5 NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation NCIT:C4222 Glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glomuvenous malformation NCIT:C4222 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma familial glomangioma Familial Glomangioma NCIT:C5350 Hereditary Glomangioma familial glomangioma NCIT:C5350 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym hereditary glomangioma hereditary glomangioma Hereditary Glomangioma NCIT:C5350 Hereditary Glomangioma hereditary glomangioma NCIT:C5350 MONDO:0007686 gray platelet syndrome oio:hasExactSynonym gray platelet syndrome gray platelet syndrome Gray Platelet Syndrome NCIT:C84741 Gray Platelet Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL gray platelet syndrome NCIT:C84741 @@ -34884,12 +34428,12 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I hypersensit MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I immediate hypersensitivity reaction type I immediate hypersensitivity reaction Type I Immediate Hypersensitivity Reaction NCIT:C3116 Type I Hypersensitivity type I immediate hypersensitivity reaction NCIT:C3116 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym JOB syndrome JOB syndrome Job Syndrome NCIT:C126342 STAT3 Deficiency JOB syndrome NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym Job's syndrome NCIT:C126342 STAT3 Deficiency Job's syndrome NCIT:C126342 -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency STAT3 deficiency NCIT:C126342 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym autosomal dominant hyper-IgE syndrome autosomal dominant hyper-IgE syndrome Autosomal dominant hyper-IgE syndrome NCIT:C126342 STAT3 Deficiency autosomal dominant hyper-IgE syndrome NCIT:C126342 MONDO:0007827 inclusion body myositis oio:hasExactSynonym inclusion body myositis inclusion body myositis Inclusion Body Myositis NCIT:C84786 Inclusion Body Myositis inclusion body myositis NCIT:C84786 -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet cell adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 +MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis islet cell adenomatosis NCIT:C4375 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym 11q terminal deletion disorder 11q terminal deletion disorder 11q Terminal Deletion Disorder NCIT:C75457 Jacobsen Syndrome 11q terminal deletion disorder NCIT:C75457 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Jacobsen syndrome Jacobsen Syndrome NCIT:C75457 Jacobsen Syndrome Jacobsen syndrome NCIT:C75457 MONDO:0007863 Kleine-Levin syndrome oio:hasExactSynonym Kleine-Levin syndrome Kleine-Levin syndrome Kleine-Levin Syndrome NCIT:C84800 Kleine-Levin Syndrome Kleine-Levin syndrome NCIT:C84800 @@ -34933,25 +34477,21 @@ MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynony MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer Hereditary Leiomyomatosis and Renal Cell Cancer NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hereditary leiomyomatosis and renal cell cancer NCIT:C51302 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym HLRCC NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLRCC NCIT:C51302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym LEOPARD syndrome LEOPARD syndrome LEOPARD Syndrome NCIT:C84820 LEOPARD Syndrome LEOPARD syndrome NCIT:C84820 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5B) NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia acute monocytic leukemia (FAB M5b) NCIT:C4861 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym leukemia, monocytic, malignant leukemia, monocytic, malignant LEUKEMIA, MONOCYTIC, MALIGNANT NCIT:C4861 Acute Monocytic Leukemia leukemia, monocytic, malignant NCIT:C4861 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia acute monocytic leukemia NCIT:C8263 MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym lichen sclerosus et atrophicus lichen sclerosus et atrophicus Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus lichen sclerosus et atrophicus NCIT:C26817 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym Madelung's Disease NCIT:C3193 Lipomatosis Madelung's Disease NCIT:C3193 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym cervical symmetrical lipomatosis cervical symmetrical lipomatosis Cervical Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis cervical symmetrical lipomatosis NCIT:C4392 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis multiple symmetrical lipomatosis Multiple Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis NCIT:C4392 -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus NCIT:C27153 Lupus Erythematosus Lupus NCIT:C27153 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, Systemic NCIT:C3201 Systemic Lupus Erythematosus SLE - lupus erythematosus, systemic NCIT:C3201 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic Lupus Erythematosus NCIT:C3201 Systemic Lupus Erythematosus systemic lupus erythematosus NCIT:C3201 MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE NCIT:C3201 Systemic Lupus Erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLE NCIT:C3201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow Nail Syndrome NCIT:C85238 Yellow Nail Syndrome yellow nail syndrome NCIT:C85238 MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym lymphedema-distichiasis syndrome lymphedema-distichiasis syndrome Lymphedema-Distichiasis Syndrome NCIT:C128191 Lymphedema-Distichiasis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL lymphedema-distichiasis syndrome NCIT:C128191 -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome Ruvalcaba-MYHRE-SMITH syndrome NCIT:C3076 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan syndrome Bannayan syndrome Bannayan Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan syndrome NCIT:C3939 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Riley-Ruvalcaba syndrome NCIT:C3939 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Zonana syndrome Bannayan-Zonana syndrome Bannayan-Zonana Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Zonana syndrome NCIT:C3939 @@ -34964,7 +34504,6 @@ MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasE MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym 46,XY sex reversal 4 46,XY sex reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 46,XY sex reversal 4 NCIT:C132270 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan's syndrome Marfan's syndrome Marfan's Syndrome NCIT:C34807 Marfan Syndrome Marfan's syndrome NCIT:C34807 MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome Marfan syndrome Marfan Syndrome NCIT:C34807 Marfan Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marfan syndrome NCIT:C34807 -MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Marshall syndrome NCIT:C116917 MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome Marshall syndrome NCIT:C128115 MONDO:0007950 mastocytosis oio:hasExactSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis Mast cell disease NCIT:C84269 MONDO:0007950 mastocytosis oio:hasExactSynonym mastocytosis mastocytosis Mastocytosis NCIT:C84269 Mastocytosis mastocytosis NCIT:C84269 @@ -34974,8 +34513,6 @@ MONDO:0007955 Meckel diverticulum oio:hasExactSynonym Meckel's diverticulum Mec MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma, malignant medulloblastoma, malignant MEDULLOBLASTOMA, MALIGNANT NCIT:C3222 Medulloblastoma medulloblastoma, malignant NCIT:C3222 MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastomas medulloblastomas Medulloblastomas NCIT:C3222 Medulloblastoma medulloblastomas NCIT:C3222 MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C3222 -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C3997 -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL medulloblastoma NCIT:C4011 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym Atypical Mole syndrome Atypical Mole syndrome Atypical Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome Atypical Mole syndrome NCIT:C7584 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome B-K Mole syndrome NCIT:C7584 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym dysplastic nevus syndrome dysplastic nevus syndrome Dysplastic Nevus Syndrome NCIT:C7584 Dysplastic Nevus Syndrome dysplastic nevus syndrome NCIT:C7584 @@ -35002,10 +34539,9 @@ MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym muller MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy 1 Facioscapulohumeral Muscular Dystrophy 1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 facioscapulohumeral muscular dystrophy 1 NCIT:C172704 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral Muscular Dystrophy 2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 facioscapulohumeral muscular dystrophy 2 NCIT:C172705 MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytopenia syndrome ataxia-pancytopenia syndrome Ataxia-Pancytopenia Syndrome NCIT:C176909 Ataxia-Pancytopenia Syndrome ataxia-pancytopenia syndrome NCIT:C176909 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD NCIT:C63709 Temporomandibular Joint Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD NCIT:C63709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym Transient abnormal myelopoiesis associated with Down syndrome Transient abnormal myelopoiesis associated with Down syndrome Transient Abnormal Myelopoiesis Associated with Down Syndrome NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome Transient abnormal myelopoiesis associated with Down syndrome NCIT:C82339 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient abnormal myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 +MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient abnormal myelopoiesis NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disorder transient myeloproliferative disorder Transient Myeloproliferative Disorder NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome transient myeloproliferative disorder NCIT:C82339 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TAM NCIT:C82339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym centronuclear myopathy 1 centronuclear myopathy 1 Centronuclear Myopathy 1 NCIT:C126689 Centronuclear Myopathy 1 centronuclear myopathy 1 NCIT:C126689 @@ -35015,7 +34551,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyos MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease Steinert Disease NCIT:C84679 Dystrophia Myotonica 1 Steinert disease NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome Steinert myotonic dystrophy syndrome Steinert Myotonic Dystrophy Syndrome NCIT:C84679 Dystrophia Myotonica 1 Steinert myotonic dystrophy syndrome NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome Steinert syndrome Steinert Syndrome NCIT:C84679 Dystrophia Myotonica 1 Steinert syndrome NCIT:C84679 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy NCIT:C84914 Myotonic Dystrophy Myotonic Dystrophy NCIT:C84914 MONDO:0008061 nail-patella syndrome oio:hasExactSynonym hereditary Osteo-onychodysplasia hereditary Osteo-onychodysplasia Hereditary Osteo-Onychodysplasia NCIT:C75120 Nail-Patella Syndrome hereditary Osteo-onychodysplasia NCIT:C75120 MONDO:0008061 nail-patella syndrome oio:hasExactSynonym nail-patella syndrome nail-patella syndrome Nail-Patella Syndrome NCIT:C75120 Nail-Patella Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nail-patella syndrome NCIT:C75120 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym medullary cystic kidney disease type II medullary cystic kidney disease type II Medullary Cystic Kidney Disease Type II NCIT:C123172 Medullary Cystic Kidney Disease Type II medullary cystic kidney disease type II NCIT:C123172 @@ -35076,7 +34611,6 @@ MONDO:0008167 dermoid cyst of ovary oio:hasExactSynonym ovarian dermoid cyst ov MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of ovary fibroma of ovary Fibroma of Ovary NCIT:C3498 Ovarian Fibroma fibroma of ovary NCIT:C3498 MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of the ovary fibroma of the ovary Fibroma of the Ovary NCIT:C3498 Ovarian Fibroma fibroma of the ovary NCIT:C3498 MONDO:0008168 ovarian fibroma oio:hasExactSynonym ovarian fibroma ovarian fibroma Ovarian Fibroma NCIT:C3498 Ovarian Fibroma ovarian fibroma NCIT:C3498 -MONDO:0008170 ovarian cancer oio:hasExactSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma ovarian cancer NCIT:C4908 MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of ovary cancer of ovary Cancer of Ovary NCIT:C7431 Malignant Ovarian Neoplasm cancer of ovary NCIT:C7431 MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of the ovary cancer of the ovary Cancer of the Ovary NCIT:C7431 Malignant Ovarian Neoplasm cancer of the ovary NCIT:C7431 MONDO:0008170 ovarian cancer oio:hasExactSynonym malignant neoplasm of ovary malignant neoplasm of ovary Malignant Neoplasm of Ovary NCIT:C7431 Malignant Ovarian Neoplasm malignant neoplasm of ovary NCIT:C7431 @@ -35095,8 +34629,8 @@ MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's disease of MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's skin disease Paget's skin disease Paget's Skin Disease NCIT:C3302 Extramammary Paget Disease Paget's skin disease NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym extramammary Paget disease extramammary Paget disease Extramammary Paget Disease NCIT:C3302 Extramammary Paget Disease extramammary Paget disease NCIT:C3302 MONDO:0008179 paroxysmal extreme pain disorder oio:hasExactSynonym paroxysmal extreme pain disorder paroxysmal extreme pain disorder Paroxysmal Extreme Pain Disorder NCIT:C125385 Paroxysmal Extreme Pain Disorder paroxysmal extreme pain disorder NCIT:C125385 -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary Pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 +MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis hereditary pancreatitis NCIT:C95436 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita paramyotonia congenita Paramyotonia Congenita NCIT:C122790 Paramyotonia Congenita paramyotonia congenita NCIT:C122790 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita of Von Eulenburg paramyotonia congenita of Von Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita paramyotonia congenita of Von Eulenburg NCIT:C122790 MONDO:0008214 Pelger-Huet anomaly oio:hasExactSynonym Pelger-Huet anomaly Pelger-Huet anomaly Pelger-Huet Anomaly NCIT:C85002 Pelger-Huet Anomaly Pelger-Huet anomaly NCIT:C85002 @@ -35121,16 +34655,16 @@ MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym MEA type MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men 2A men 2A MEN 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type 2a men type 2a MEN Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men type 2a NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type II men type II MEN Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A men type II NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type 2a NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type II multiple endocrine adenomatosis type II Multiple Endocrine Adenomatosis Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis, type II multiple endocrine adenomatosis, type II Multiple Endocrine Adenomatosis, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine adenomatosis, type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type II multiple endocrine neoplasia type II Multiple Endocrine Neoplasia Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine neoplasia type II NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia, type II multiple endocrine neoplasia, type II Multiple Endocrine Neoplasia, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A multiple endocrine neoplasia, type II NCIT:C3226 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple endocrine neoplasia type 2A NCIT:C3226 MONDO:0008243 Pick disease oio:hasExactSynonym Pick disease Pick disease Pick Disease NCIT:C85008 Pick's Disease Pick disease NCIT:C85008 MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism NCIT:C85009 Piebaldism piebaldism NCIT:C85009 MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly Poland anomaly Poland Anomaly NCIT:C85017 Poland Syndrome Poland anomaly NCIT:C85017 @@ -35142,10 +34676,9 @@ MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of stomach polyps of sto MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of the stomach polyps of the stomach Polyps of the Stomach NCIT:C3954 Gastric Polyp polyps of the stomach NCIT:C3954 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Jeghers-Peutz syndrome Jeghers-Peutz syndrome Jeghers-Peutz Syndrome NCIT:C3324 Peutz-Jeghers Syndrome Jeghers-Peutz syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz's syndrome Peutz's syndrome Peutz's Syndrome NCIT:C3324 Peutz-Jeghers Syndrome Peutz's syndrome NCIT:C3324 -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 +MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Peutz-Jeghers syndrome NCIT:C3324 MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym PJS NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PJS NCIT:C3324 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym gastric Peutz-Jeghers polyp gastric Peutz-Jeghers polyp Gastric Peutz-Jeghers Polyp NCIT:C36205 Peutz-Jeghers Polyp of the Stomach gastric Peutz-Jeghers polyp NCIT:C36205 MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis gastric Cronkhite Canada polyposis Gastric Cronkhite Canada Polyposis NCIT:C7035 Gastric Cronkhite Canada Polyposis gastric Cronkhite Canada polyposis NCIT:C7035 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalosyndactyly syndrome Greig cephalosyndactyly syndrome Greig Cephalosyndactyly Syndrome NCIT:C35255 Greig Syndrome Greig cephalosyndactyly syndrome NCIT:C35255 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome Greig's syndrome Greig's Syndrome NCIT:C35255 Greig Syndrome Greig's syndrome NCIT:C35255 @@ -35185,7 +34718,6 @@ MONDO:0008375 retinal detachment oio:hasExactSynonym retinal detachment retinal MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma, malignant retinoblastoma, malignant RETINOBLASTOMA, MALIGNANT NCIT:C7541 Retinoblastoma retinoblastoma, malignant NCIT:C7541 MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma retinoblastoma Retinoblastoma NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinoblastoma NCIT:C7541 MONDO:0008380 retinoblastoma oio:hasExactSynonym RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym rheumatoid arthritis rheumatoid arthritis Rheumatoid Arthritis NCIT:C2884 Rheumatoid Arthritis rheumatoid arthritis NCIT:C2884 MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Rieger syndrome type 1 Rieger syndrome type 1 Rieger Syndrome Type 1 NCIT:C75015 Rieger Syndrome Type 1 Rieger syndrome type 1 NCIT:C75015 @@ -35196,8 +34728,8 @@ MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver dwarfi MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome Russell-Silver Syndrome NCIT:C85068 Russell-Silver Syndrome Russell-Silver syndrome NCIT:C85068 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism Silver-Russell Dwarfism NCIT:C85068 Russell-Silver Syndrome Silver-Russell dwarfism NCIT:C85068 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome Silver-Russell syndrome Silver-Russell Syndrome NCIT:C85068 Russell-Silver Syndrome Silver-Russell syndrome NCIT:C85068 -MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic Adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 +MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma pleomorphic adenoma NCIT:C8602 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym tumor, mixed, benign tumor, mixed, benign TUMOR, MIXED, BENIGN NCIT:C8602 Pleomorphic Adenoma tumor, mixed, benign NCIT:C8602 MONDO:0008410 Scheuermann disease oio:hasExactSynonym Calve's disease Calve's disease Calve's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine Calve's disease NCIT:C34999 MONDO:0008410 Scheuermann disease oio:hasExactSynonym Scheuermann's disease Scheuermann's disease Scheuermann's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine Scheuermann's disease NCIT:C34999 @@ -35226,7 +34758,6 @@ MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym chromosome 17p11.2 del MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Smith-Magenis syndrome Smith-Magenis Syndrome NCIT:C75469 Smith-Magenis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Smith-Magenis syndrome NCIT:C75469 MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym spastic Paraplegia 3A spastic Paraplegia 3A Spastic Paraplegia 3A NCIT:C142893 Spastic Paraplegia 3A spastic Paraplegia 3A NCIT:C142893 MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym strumpell disease strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A strumpell disease NCIT:C142893 -MONDO:0008449 spina bifida oio:hasExactSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele spinal meningocele NCIT:C101209 MONDO:0008449 spina bifida oio:hasExactSynonym rachischisis rachischisis Rachischisis NCIT:C101214 Spina Bifida rachischisis NCIT:C101214 MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida Spina Bifida NCIT:C101214 Spina Bifida spina bifida NCIT:C101214 MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida SPINA BIFIDA NCIT:C101214 Spina Bifida spina bifida NCIT:C101214 @@ -35262,8 +34793,8 @@ MONDO:0008538 temporal arteritis oio:hasExactSynonym Giant Cell Arteritis NCI MONDO:0008538 temporal arteritis oio:hasExactSynonym giant cell arteritis giant cell arteritis Giant Cell Arteritis NCIT:C35065 Temporal Arteritis giant cell arteritis NCIT:C35065 MONDO:0008538 temporal arteritis oio:hasExactSynonym temporal arteritis temporal arteritis Temporal Arteritis NCIT:C35065 Temporal Arteritis temporal arteritis NCIT:C35065 MONDO:0008541 spermatic cord torsion oio:hasExactSynonym testicular torsion testicular torsion Testicular Torsion NCIT:C26885 Testicular Torsion testicular torsion NCIT:C26885 -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot tetralogy of fallot NCIT:C84505 MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym thanatophoric dysplasia, type 1 thanatophoric dysplasia, type 1 Thanatophoric Dysplasia, Type 1 NCIT:C98583 Type 1 Thanatophoric Dysplasia thanatophoric dysplasia, type 1 NCIT:C98583 MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym type 1 thanatophoric dysplasia type 1 thanatophoric dysplasia Type 1 Thanatophoric Dysplasia NCIT:C98583 Type 1 Thanatophoric Dysplasia type 1 thanatophoric dysplasia NCIT:C98583 MONDO:0008547 thanatophoric dysplasia type 2 oio:hasExactSynonym thanatophoric dysplasia, type 2 thanatophoric dysplasia, type 2 Thanatophoric Dysplasia, Type 2 NCIT:C98584 Type 2 Thanatophoric Dysplasia thanatophoric dysplasia, type 2 NCIT:C98584 @@ -35304,7 +34835,6 @@ MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter neoplasm malig MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter tumor malignant ureter tumor Malignant Ureter Tumor NCIT:C7543 Malignant Ureter Neoplasm malignant ureter tumor NCIT:C7543 MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral neoplasm malignant ureteral neoplasm Malignant Ureteral Neoplasm NCIT:C7543 Malignant Ureter Neoplasm malignant ureteral neoplasm NCIT:C7543 MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral tumor malignant ureteral tumor Malignant Ureteral Tumor NCIT:C7543 Malignant Ureter Neoplasm malignant ureteral tumor NCIT:C7543 -MONDO:0008627 ureter cancer oio:hasExactSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma ureter cancer NCIT:C8993 MONDO:0008628 ureterocele oio:hasExactSynonym ureterocele ureterocele Ureterocele NCIT:C123159 Ureterocele ureterocele NCIT:C123159 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome Muckle-Wells syndrome NCIT:C119054 MONDO:0008638 varicose disease oio:hasExactSynonym varix varix Varix NCIT:C35114 Varicose Vein varix NCIT:C35114 @@ -35345,14 +34875,13 @@ MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome Denys-Drash syndrome Denys-Drash Syndrome NCIT:C84668 Denys-Drash Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Denys-Drash syndrome NCIT:C84668 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome 4p deletion syndrome 4p Deletion Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome 4p deletion syndrome NCIT:C35528 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wolf-Hirschhorn syndrome NCIT:C35528 -MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 +MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome NCIT:C35132 MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym WPW NCIT:C35132 Wolff-Parkinson-White Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WPW NCIT:C35132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia NCIT:C84525 Abetalipoproteinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL abetalipoproteinemia NCIT:C84525 MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym Langer-Saldino achondrogenesis Langer-Saldino achondrogenesis Langer-Saldino Achondrogenesis NCIT:C3816 Type II Achondrogenesis Langer-Saldino achondrogenesis NCIT:C3816 MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym type II achondrogenesis type II achondrogenesis Type II Achondrogenesis NCIT:C3816 Type II Achondrogenesis type II achondrogenesis NCIT:C3816 -MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal Syndrome NCIT:C84531 Acrocallosal Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrocallosal syndrome NCIT:C84531 MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym acrodermatitis enteropathica acrodermatitis enteropathica Acrodermatitis Enteropathica NCIT:C128802 Acrodermatitis Enteropathica http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrodermatitis enteropathica NCIT:C128802 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym acyl-CoA dehydrogenase, medium-chain deficiency acyl-CoA dehydrogenase, medium-chain deficiency Acyl-CoA Dehydrogenase, Medium-Chain Deficiency NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency acyl-CoA dehydrogenase, medium-chain deficiency NCIT:C84538 @@ -35426,8 +34955,6 @@ MONDO:0008876 Bloom syndrome oio:hasExactSynonym Bloom syndrome Bloom syndrome MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's Disease NCIT:C35070 Buerger Disease Buerger's Disease NCIT:C35070 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease Buerger's disease Buerger's Disease NCIT:C35070 Buerger Disease Buerger's disease NCIT:C35070 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans thromboangiitis obliterans Thromboangiitis Obliterans NCIT:C35070 Buerger Disease thromboangiitis obliterans NCIT:C35070 -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung cancer of lung Cancer of Lung NCIT:C4878 Lung Carcinoma cancer of lung NCIT:C4878 -MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma lung cancer NCIT:C4878 MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung neoplasm malignant lung neoplasm Malignant Lung Neoplasm NCIT:C7377 Malignant Lung Neoplasm malignant lung neoplasm NCIT:C7377 MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung tumor malignant lung tumor Malignant Lung Tumor NCIT:C7377 Malignant Lung Neoplasm malignant lung tumor NCIT:C7377 MONDO:0008903 lung cancer oio:hasExactSynonym malignant neoplasm of lung malignant neoplasm of lung Malignant Neoplasm of Lung NCIT:C7377 Malignant Lung Neoplasm malignant neoplasm of lung NCIT:C7377 @@ -35468,7 +34995,6 @@ MONDO:0008988 citrullinemia type I oio:hasExactSynonym CTLN1 NCIT:C150601 Cit MONDO:0009003 achromatopsia 2 oio:hasExactSynonym achromatopsia 2 achromatopsia 2 Achromatopsia 2 NCIT:C168757 Achromatopsia 2 achromatopsia 2 NCIT:C168757 MONDO:0009003 achromatopsia 2 oio:hasExactSynonym ACHM2 NCIT:C168757 Achromatopsia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACHM2 NCIT:C168757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy band keratopathy Band Keratopathy NCIT:C118765 Band Keratopathy band keratopathy NCIT:C118765 -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD NCIT:C27855 Multicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD NCIT:C27855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular Corneal Dystrophy NCIT:C34793 Macular Corneal Dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy NCIT:C34793 MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym agenesis of corpus callosum agenesis of corpus callosum Agenesis of Corpus Callosum NCIT:C98905 Corpus Callosum Agenesis agenesis of corpus callosum NCIT:C98905 MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym corpus callosum agenesis corpus callosum agenesis Corpus Callosum Agenesis NCIT:C98905 Corpus Callosum Agenesis corpus callosum agenesis NCIT:C98905 @@ -35585,10 +35111,9 @@ MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann's synd MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann-Streiff syndrome Hallermann-Streiff syndrome Hallermann-Streiff Syndrome NCIT:C84746 Hallermann Syndrome Hallermann-Streiff syndrome NCIT:C84746 MONDO:0009319 pantothenate kinase-associated neurodegeneration oio:hasExactSynonym pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration Pantothenate Kinase-Associated Neurodegeneration NCIT:C84988 Pantothenate Kinase-Associated Neurodegeneration pantothenate kinase-associated neurodegeneration NCIT:C84988 MONDO:0009324 Hartnup disease oio:hasExactSynonym Hartnup disease Hartnup disease Hartnup Disease NCIT:C84748 Hartnup Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Hartnup disease NCIT:C84748 -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant Hemangiopericytoma, malignant NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 +MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma hemangiopericytoma, malignant NCIT:C4301 MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma malignant hemangiopericytoma NCIT:C4301 -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma malignant hemangiopericytoma NCIT:C8090 MONDO:0009332 congenital hematological disorder oio:hasExactSynonym congenital hematological disorder congenital hematological disorder Congenital Hematological Disorder NCIT:C104003 Congenital Hematological Disorder congenital hematological disorder NCIT:C104003 MONDO:0009341 Mowat-Wilson syndrome oio:hasExactSynonym Mowat-Wilson syndrome Mowat-Wilson syndrome Mowat-Wilson Syndrome NCIT:C74999 Mowat-Wilson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Mowat-Wilson syndrome NCIT:C74999 MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym classical Hodgkin lymphoma classical Hodgkin lymphoma Classical Hodgkin Lymphoma NCIT:C7164 Classic Hodgkin Lymphoma classical Hodgkin lymphoma NCIT:C7164 @@ -35618,7 +35143,6 @@ MONDO:0009412 scurvy oio:hasExactSynonym vitamin C deficiency vitamin C deficie MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym Sanjad-Sakati syndrome Sanjad-Sakati syndrome Sanjad-Sakati Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome Sanjad-Sakati syndrome NCIT:C133727 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym hypoparathyroidism-retardation-dysmorphism syndrome hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome hypoparathyroidism-retardation-dysmorphism syndrome NCIT:C133727 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym HRDS NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HRDS NCIT:C133727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym SSS NCIT:C62244 Sick Sinus Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SSS NCIT:C62244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypercalciuric hypophosphatemic rickets hypercalciuric hypophosphatemic rickets Hypercalciuric Hypophosphatemic Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria hypercalciuric hypophosphatemic rickets NCIT:C131450 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypophosphatemic hypercalciuric rickets hypophosphatemic hypercalciuric rickets Hypophosphatemic Hypercalciuric Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria hypophosphatemic hypercalciuric rickets NCIT:C131450 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym HHRH NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHRH NCIT:C131450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -35649,15 +35173,14 @@ MONDO:0009499 Krabbe disease oio:hasExactSynonym globoid cell leukodystrophy gl MONDO:0009499 Krabbe disease oio:hasExactSynonym Krabbe disease Krabbe disease Krabbe Disease NCIT:C61254 Krabbe Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Krabbe disease NCIT:C61254 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym Landau-Kleffner syndrome Landau-Kleffner syndrome Landau-Kleffner Syndrome NCIT:C84806 Landau-Kleffner Syndrome Landau-Kleffner syndrome NCIT:C84806 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym acquired epileptic aphasia acquired epileptic aphasia Acquired Epileptic Aphasia NCIT:C84806 Landau-Kleffner Syndrome acquired epileptic aphasia NCIT:C84806 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome Laurence-Moon syndrome NCIT:C118632 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome Laurence-Moon syndrome NCIT:C34760 MONDO:0009515 Norum disease oio:hasExactSynonym lecithin acyltransferase deficiency lecithin acyltransferase deficiency Lecithin Acyltransferase Deficiency NCIT:C84813 Lecithin Acyltransferase Deficiency lecithin acyltransferase deficiency NCIT:C84813 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome Donohue Syndrome NCIT:C84676 Donohue Syndrome Donohue syndrome NCIT:C84676 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Leprechaunism NCIT:C84676 Donohue Syndrome Leprechaunism NCIT:C84676 MONDO:0009517 Donohue syndrome oio:hasExactSynonym leprechaunism leprechaunism Leprechaunism NCIT:C84676 Donohue Syndrome leprechaunism NCIT:C84676 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym acute disseminated Langerhans cell histiocytosis acute disseminated Langerhans cell histiocytosis Acute Disseminated Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease acute disseminated Langerhans cell histiocytosis NCIT:C3160 -MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 +MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease letterer-Siwe disease NCIT:C3160 MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym multifocal multisystem Langerhans cell histiocytosis multifocal multisystem Langerhans cell histiocytosis Multifocal Multisystem Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease multifocal multisystem Langerhans cell histiocytosis NCIT:C3160 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl Glutaric Aciduria NCIT:C84523 HMG-CoA Lyase Deficiency 3-OH 3-Methyl glutaric aciduria NCIT:C84523 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NCIT:C84523 @@ -35691,7 +35214,6 @@ MONDO:0009613 methylmalonic aciduria, cblA type oio:hasExactSynonym methylmalon MONDO:0009614 methylmalonic aciduria, cblB type oio:hasExactSynonym methylmalonic aciduria, cblB type methylmalonic aciduria, cblB type Methylmalonic Aciduria, cblB Type NCIT:C142172 Methylmalonic Aciduria, cblB Type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL methylmalonic aciduria, cblB type NCIT:C142172 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome Nijmegen Breakage Syndrome NCIT:C4692 Nijmegen Breakage Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Nijmegen breakage syndrome NCIT:C4692 MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 NCIT:C129306 -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis Syndrome NCIT:C165501 Aicardi-Goutieres Syndrome 1 Pseudotoxoplasmosis syndrome NCIT:C165501 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome Galloway-Mowat syndrome Galloway-Mowat Syndrome NCIT:C132195 Galloway-Mowat Syndrome Galloway-Mowat syndrome NCIT:C132195 MONDO:0009637 inborn mitochondrial myopathy oio:hasExactSynonym mitochondrial myopathy mitochondrial myopathy Mitochondrial Myopathy NCIT:C101328 Mitochondrial Myopathy mitochondrial myopathy NCIT:C101328 MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 oio:hasExactSynonym monosomy 7 of bone marrow monosomy 7 of bone marrow Monosomy 7 of Bone Marrow NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 monosomy 7 of bone marrow NCIT:C176908 @@ -35745,7 +35267,6 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009688 myasthenia gravis oio:hasExactSynonym myasthenia gravis myasthenia gravis Myasthenia Gravis NCIT:C60989 Myasthenia Gravis myasthenia gravis NCIT:C60989 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym presynaptic congenital myasthenic syndrome 6 presynaptic congenital myasthenic syndrome 6 Presynaptic Congenital Myasthenic Syndrome 6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 presynaptic congenital myasthenic syndrome 6 NCIT:C132292 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym CMS6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS6 NCIT:C132292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis fungoides NCIT:C3246 Mycosis Fungoides mycosis fungoides NCIT:C3246 MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis Fungoides NCIT:C3246 Mycosis Fungoides mycosis fungoides NCIT:C3246 MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -35753,15 +35274,15 @@ MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metap MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metaplasia NCIT:C2862 Primary Myelofibrosis Agnogenic myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic bone marrow fibrosis idiopathic bone marrow fibrosis Idiopathic Bone Marrow Fibrosis NCIT:C2862 Primary Myelofibrosis idiopathic bone marrow fibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic myelofibrosis idiopathic myelofibrosis Idiopathic Myelofibrosis NCIT:C2862 Primary Myelofibrosis idiopathic myelofibrosis NCIT:C2862 -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with myeloid metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 +MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis myelosclerosis with myeloid metaplasia NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary Myelofibrosis NCIT:C2862 Primary Myelofibrosis primary myelofibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary myelofibrosis NCIT:C2862 Primary Myelofibrosis primary myelofibrosis NCIT:C2862 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym AMM NCIT:C2862 Primary Myelofibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMM NCIT:C2862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma Multiple Myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple Myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma multiple myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma/plasma cell myeloma multiple myeloma/plasma cell myeloma Multiple Myeloma/Plasma Cell Myeloma NCIT:C3242 Multiple Myeloma multiple myeloma/plasma cell myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma myeloma Myeloma NCIT:C3242 Multiple Myeloma myeloma NCIT:C3242 MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma, plasma cell, malignant myeloma, plasma cell, malignant MYELOMA, PLASMA CELL, MALIGNANT NCIT:C3242 Multiple Myeloma myeloma, plasma cell, malignant NCIT:C3242 @@ -35789,7 +35310,6 @@ MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NCIT:C74998 Nephron MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym congenital nephrotic syndrome - Finnish type congenital nephrotic syndrome - Finnish type Congenital Nephrotic Syndrome - Finnish Type NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated congenital nephrotic syndrome - Finnish type NCIT:C122795 MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym nephrotic syndrome - NPHS1 associated nephrotic syndrome - NPHS1 associated Nephrotic Syndrome - NPHS1 Associated NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated nephrotic syndrome - NPHS1 associated NCIT:C122795 MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym congenital nephrotic syndrome - diffuse mesangial sclerosis congenital nephrotic syndrome - diffuse mesangial sclerosis Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis congenital nephrotic syndrome - diffuse mesangial sclerosis NCIT:C121198 -MONDO:0009735 Netherton syndrome oio:hasExactSynonym NS NCIT:C135176 Nuclear Cataract http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NS NCIT:C135176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009735 Netherton syndrome oio:hasExactSynonym Netherton syndrome Netherton syndrome Netherton Syndrome NCIT:C84922 Netherton Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Netherton syndrome NCIT:C84922 MONDO:0009737 galactosialidosis oio:hasExactSynonym Goldberg syndrome Goldberg syndrome Goldberg Syndrome NCIT:C129928 Galactosialidosis Goldberg syndrome NCIT:C129928 MONDO:0009737 galactosialidosis oio:hasExactSynonym galactosialidosis galactosialidosis Galactosialidosis NCIT:C129928 Galactosialidosis galactosialidosis NCIT:C129928 @@ -35821,7 +35341,6 @@ MONDO:0009761 cystic hygroma oio:hasExactSynonym hygroma hygroma Hygroma NCIT:C MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym gyrate atrophy gyrate atrophy Gyrate Atrophy NCIT:C84744 Gyrate Atrophy gyrate atrophy NCIT:C84744 MONDO:0009797 orotic aciduria oio:hasExactSynonym Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria Hereditary Orotic Aciduria NCIT:C98944 MONDO:0009804 osteogenesis imperfecta type 3 oio:hasExactSynonym osteogenesis imperfecta type III osteogenesis imperfecta type III Osteogenesis Imperfecta Type III NCIT:C99002 Osteogenesis Imperfecta Type III osteogenesis imperfecta type III NCIT:C99002 -MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma osteosarcoma NCIT:C6585 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteogenic sarcoma osteogenic sarcoma Osteogenic Sarcoma NCIT:C9145 Osteosarcoma osteogenic sarcoma NCIT:C9145 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma osteosarcoma NCIT:C9145 MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma, malignant osteosarcoma, malignant OSTEOSARCOMA, MALIGNANT NCIT:C9145 Osteosarcoma osteosarcoma, malignant NCIT:C9145 @@ -35845,9 +35364,6 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym osteopetr MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym OPTB3 NCIT:C118438 Osteopetrosis with Renal Tubular Acidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OPTB3 NCIT:C118438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym primary hyperoxaluria type I primary hyperoxaluria type I Primary Hyperoxaluria Type I NCIT:C123212 Primary Hyperoxaluria Type I primary hyperoxaluria type I NCIT:C123212 MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym primary hyperoxaluria type II primary hyperoxaluria type II Primary Hyperoxaluria Type II NCIT:C123213 Primary Hyperoxaluria Type II primary hyperoxaluria type II NCIT:C123213 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym cancer of pancreas cancer of pancreas Cancer of Pancreas NCIT:C3850 Pancreatic Carcinoma cancer of pancreas NCIT:C3850 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreas cancer pancreas cancer Pancreas Cancer NCIT:C3850 Pancreatic Carcinoma pancreas cancer NCIT:C3850 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreatic cancer pancreatic cancer Pancreatic Cancer NCIT:C3850 Pancreatic Carcinoma pancreatic cancer NCIT:C3850 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of pancreas malignant neoplasm of pancreas Malignant Neoplasm of Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm malignant neoplasm of pancreas NCIT:C9005 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of the pancreas malignant neoplasm of the pancreas Malignant Neoplasm of the Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm malignant neoplasm of the pancreas NCIT:C9005 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant pancreatic neoplasm malignant pancreatic neoplasm Malignant Pancreatic Neoplasm NCIT:C9005 Malignant Pancreatic Neoplasm malignant pancreatic neoplasm NCIT:C9005 @@ -35914,8 +35430,8 @@ MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym 1 Alpha-h MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym pseudo vitamin-D deficient rickets pseudo vitamin-D deficient rickets Pseudo Vitamin-D Deficient Rickets NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency pseudo vitamin-D deficient rickets NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym selective 1-alpha, 25-hydroxyvitamin D3 deficiency selective 1-alpha, 25-hydroxyvitamin D3 deficiency Selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D 1 Alpha-Hydroxylase deficiency vitamin D 1 Alpha-Hydroxylase deficiency Vitamin D 1 Alpha-Hydroxylase Deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D 1 Alpha-Hydroxylase deficiency NCIT:C131073 -MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-Dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 +MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency vitamin D-dependent rickets type 1 NCIT:C131073 MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym VDDR1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VDDR1 NCIT:C131073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum NCIT:C85036 MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym Escobar syndrome Escobar syndrome Escobar Syndrome NCIT:C101039 Escobar Syndrome Escobar syndrome NCIT:C101039 @@ -35924,7 +35440,6 @@ MONDO:0009933 congenital pulmonary lymphangiectasia oio:hasExactSynonym congeni MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia alveolar capillary dysplasia Alveolar Capillary Dysplasia NCIT:C98809 Alveolar Capillary Dysplasia alveolar capillary dysplasia NCIT:C98809 MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary veno-occlusive disease pulmonary veno-occlusive disease Pulmonary Veno-Occlusive Disease NCIT:C85039 Pulmonary Veno-Occlusive Disease pulmonary veno-occlusive disease NCIT:C85039 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis NCIT:C131187 Pycnodysostosis pycnodysostosis NCIT:C131187 -MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym Hypophosphatasia NCIT:C26798 Hypophosphatasia Hypophosphatasia NCIT:C26798 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease pyruvate carboxylase deficiency disease Pyruvate Carboxylase Deficiency Disease NCIT:C85040 Pyruvate Carboxylase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pyruvate carboxylase deficiency disease NCIT:C85040 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency NCIT:C99037 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic Anemia due to pyruvate Kinase deficiency hemolytic Anemia due to pyruvate Kinase deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency hemolytic Anemia due to pyruvate Kinase deficiency NCIT:C99037 @@ -35941,8 +35456,8 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bo MONDO:0009990 Revesz syndrome oio:hasExactSynonym DKCA5 NCIT:C152064 Revesz Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DKCA5 NCIT:C152064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma NCIT:C8971 Embryonal Rhabdomyosarcoma embryonal rhabdomyosarcoma NCIT:C8971 MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym ERMS NCIT:C8971 Embryonal Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERMS NCIT:C8971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 +MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma alveolar rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym monomorphous round cell rhabdomyosarcoma monomorphous round cell rhabdomyosarcoma Monomorphous Round Cell Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma monomorphous round cell rhabdomyosarcoma NCIT:C3749 MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym ARMS arms ARMS NCIT:C3749 Alveolar Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMS NCIT:C3749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome Rothmund-Thomson Syndrome NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome NCIT:C3335 @@ -35970,7 +35485,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym Canavan disease Canavan disea MONDO:0010088 mucosulfatidosis oio:hasExactSynonym multiple sulfatase deficiency disease multiple sulfatase deficiency disease Multiple Sulfatase Deficiency Disease NCIT:C84908 Multiple Sulfatase Deficiency Disease multiple sulfatase deficiency disease NCIT:C84908 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay Sachs Disease NCIT:C85184 Tay-Sachs Disease Tay Sachs Disease NCIT:C85184 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay-Sachs disease Tay-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Tay-Sachs disease NCIT:C85184 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor testicular germ cell tumor NCIT:C6552 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of testis germ cell neoplasm of testis Germ Cell Neoplasm of Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell neoplasm of testis NCIT:C8591 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of the testis germ cell neoplasm of the testis Germ Cell Neoplasm of the Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell neoplasm of the testis NCIT:C8591 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ Cell Tumor of Testis NCIT:C8591 Testicular Germ Cell Tumor germ cell tumor of testis NCIT:C8591 @@ -36040,7 +35554,6 @@ MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym XP-G NCIT:C39 MONDO:0010217 de Sanctis-Cacchione syndrome oio:hasExactSynonym de Sanctis-Cacchione syndrome de Sanctis-Cacchione syndrome De Sanctis-Cacchione Syndrome NCIT:C84666 De Sanctis-Cacchione Syndrome de Sanctis-Cacchione syndrome NCIT:C84666 MONDO:0010229 alopecia, congenital oio:hasExactSynonym congenital alopecia congenital alopecia Congenital Alopecia NCIT:C35790 Congenital Alopecia congenital alopecia NCIT:C35790 MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked adrenal hypoplasia congenita NCIT:C123725 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym congenital adrenal hypoplasia congenital adrenal hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal hypoplasia NCIT:C35261 MONDO:0010281 Danon disease oio:hasExactSynonym glycogen storage disease type IIb glycogen storage disease type IIb Glycogen Storage Disease Type IIb NCIT:C84735 Glycogen Storage Disease Type IIb glycogen storage disease type IIb NCIT:C84735 MONDO:0010281 Danon disease oio:hasExactSynonym Danon disease Danon disease Danon Disease NCIT:C84735 Glycogen Storage Disease Type IIb http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Danon disease NCIT:C84735 MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym MECP2 duplication syndrome MECP2 duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome MECP2 duplication syndrome NCIT:C126747 @@ -36066,8 +35579,8 @@ MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's Sex-l MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's X-linked agammaglobulinemia Bruton's X-linked agammaglobulinemia Bruton's X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia Bruton's X-linked agammaglobulinemia NCIT:C3822 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym X-linked agammaglobulinemia X-linked agammaglobulinemia X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia X-linked agammaglobulinemia NCIT:C3822 MONDO:0010434 synovial sarcoma oio:hasExactSynonym sarcoma, synovial, malignant sarcoma, synovial, malignant SARCOMA, SYNOVIAL, MALIGNANT NCIT:C3400 Synovial Sarcoma sarcoma, synovial, malignant NCIT:C3400 -MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial Sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 +MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma synovial sarcoma NCIT:C3400 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia NCIT:C126336 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XMEN NCIT:C126336 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome Ogden Syndrome NCIT:C188215 Ogden Syndrome Ogden syndrome NCIT:C188215 @@ -36097,7 +35610,6 @@ MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia choroideremia Cho MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome Gareis-Mason Syndrome NCIT:C129930 MASA Syndrome Gareis-Mason syndrome NCIT:C129930 MONDO:0010559 MASA syndrome oio:hasExactSynonym MASA syndrome MASA syndrome MASA Syndrome NCIT:C129930 MASA Syndrome MASA syndrome NCIT:C129930 MONDO:0010559 MASA syndrome oio:hasExactSynonym spastic paraplegia, X-linked spastic paraplegia, X-linked Spastic Paraplegia, X-linked NCIT:C129930 MASA Syndrome spastic paraplegia, X-linked NCIT:C129930 -MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym CLS NCIT:C62578 Capillary Leak Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLS NCIT:C62578 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry Syndrome NCIT:C84643 Coffin-Lowry Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Lowry syndrome NCIT:C84643 MONDO:0010562 colonic atresia oio:hasExactSynonym atresia of colon atresia of colon Atresia of Colon NCIT:C101024 Colon Atresia atresia of colon NCIT:C101024 MONDO:0010562 colonic atresia oio:hasExactSynonym colon atresia colon atresia Colon Atresia NCIT:C101024 Colon Atresia colon atresia NCIT:C101024 @@ -36125,10 +35637,9 @@ MONDO:0010604 hemophilia B oio:hasExactSynonym hereditary Factor IX deficiency MONDO:0010604 hemophilia B oio:hasExactSynonym hemophilia B hemophilia B Hemophilia B NCIT:C26721 Hemophilia B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hemophilia B NCIT:C26721 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-Linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism X-linked hypoparathyroidism NCIT:C131079 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism X-linked hypoparathyroidism NCIT:C131079 -MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-Linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 +MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked ichthyosis X-linked ichthyosis X-Linked Ichthyosis NCIT:C84779 X-Linked Ichthyosis X-linked ichthyosis NCIT:C84779 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome hyperimmunoglobulin M syndrome NCIT:C3990 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym Duncan disease Duncan disease Duncan Disease NCIT:C61246 X-Linked Lymphoproliferative Syndrome Duncan disease NCIT:C61246 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome NCIT:C61246 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-Linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome NCIT:C61246 @@ -36160,7 +35671,6 @@ MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym Peliza MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS pais PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym juvenile X-linked retinoschisis juvenile X-linked retinoschisis Juvenile X-Linked Retinoschisis NCIT:C75483 Juvenile X-Linked Retinoschisis juvenile X-linked retinoschisis NCIT:C75483 -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS NCIT:C3335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Rett syndrome Rett Syndrome NCIT:C75488 Rett Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome NCIT:C75488 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel Syndrome NCIT:C131002 Simpson-Golabi-Behmel Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Simpson-Golabi-Behmel syndrome NCIT:C131002 MONDO:0010735 Kennedy disease oio:hasExactSynonym Kennedy disease Kennedy disease Kennedy Disease NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 Kennedy disease NCIT:C85233 @@ -36253,7 +35763,6 @@ MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin D resistant rickets vitamin D resistant rickets Vitamin D Resistant Rickets NCIT:C131076 Vitamin D Dependent Rickets 2b vitamin D resistant rickets NCIT:C131076 MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 TIMOTHY syndrome NCIT:C142894 MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Timothy syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 Timothy syndrome NCIT:C142894 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS NCIT:C50783 Tricuspid Valve Stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS NCIT:C50783 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDGId NCIT:C126870 Congenital Disorder of Glycosylation Type Id CDGId NCIT:C126870 MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Id congenital disorder of glycosylation type Id Congenital Disorder of Glycosylation Type Id NCIT:C126870 Congenital Disorder of Glycosylation Type Id congenital disorder of glycosylation type Id NCIT:C126870 MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym pulmonary blastoma of childhood pulmonary blastoma of childhood Pulmonary Blastoma of Childhood NCIT:C5669 Pleuropulmonary Blastoma pulmonary blastoma of childhood NCIT:C5669 @@ -36269,8 +35778,8 @@ MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym MPS9 NCIT:C129 MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 1B Peroxisome Biogenesis Disorder 1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder 1B NCIT:C155749 MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth Disease Type 4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease type 4C NCIT:C129864 MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym CMT4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT4C NCIT:C129864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute bilineal leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 +MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia acute bilineal leukemia NCIT:C6923 MONDO:0011122 obesity disorder oio:hasExactSynonym obesity obesity Obesity NCIT:C3283 Obesity obesity NCIT:C3283 MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym trichothiodystrophy 1, photosensitive trichothiodystrophy 1, photosensitive Trichothiodystrophy 1, Photosensitive NCIT:C156433 Trichothiodystrophy 1, Photosensitive trichothiodystrophy 1, photosensitive NCIT:C156433 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Pallister-Killian syndrome Pallister-Killian Syndrome NCIT:C75458 Pallister-Killian Syndrome Pallister-Killian syndrome NCIT:C75458 @@ -36308,7 +35817,6 @@ MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of ov MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of the ovary germ cell tumor of the ovary Germ Cell Tumor of the Ovary NCIT:C3873 Ovarian Germ Cell Tumor germ cell tumor of the ovary NCIT:C3873 MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell neoplasm ovarian germ cell neoplasm Ovarian Germ Cell Neoplasm NCIT:C3873 Ovarian Germ Cell Tumor ovarian germ cell neoplasm NCIT:C3873 MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor ovarian germ cell tumor NCIT:C3873 -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor ovarian germ cell tumor NCIT:C8588 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid papillary Microcarcinoma of the thyroid Papillary Microcarcinoma of the Thyroid NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary Microcarcinoma of the thyroid NCIT:C46004 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid gland papillary Microcarcinoma of the thyroid gland Papillary Microcarcinoma of the Thyroid Gland NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary Microcarcinoma of the thyroid gland NCIT:C46004 MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary thyroid Microcarcinoma papillary thyroid Microcarcinoma Papillary Thyroid Microcarcinoma NCIT:C46004 Thyroid Gland Papillary Microcarcinoma papillary thyroid Microcarcinoma NCIT:C46004 @@ -36334,7 +35842,6 @@ MONDO:0011424 Carney triad oio:hasExactSynonym Carney triad Carney triad Carney MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis Juvenile idiopathic arthritis NCIT:C114357 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile idiopathic arthritis juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis juvenile idiopathic arthritis NCIT:C114357 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym JIA NCIT:C114357 Juvenile Idiopathic Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JIA NCIT:C114357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile rheumatoid arthritis juvenile rheumatoid arthritis Juvenile Rheumatoid Arthritis NCIT:C27179 Juvenile Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#DEPRECATED juvenile rheumatoid arthritis NCIT:C27179 MONDO:0011438 acne oio:hasExactSynonym acne acne Acne NCIT:C27195 Acne acne NCIT:C27195 MONDO:0011438 acne oio:hasExactSynonym acne vulgaris acne vulgaris Acne Vulgaris NCIT:C27195 Acne acne vulgaris NCIT:C27195 MONDO:0011439 spinocerebellar ataxia type 12 oio:hasExactSynonym spinocerebellar ataxia type 12 spinocerebellar ataxia type 12 Spinocerebellar Ataxia Type 12 NCIT:C154316 Spinocerebellar Ataxia Type 12 spinocerebellar ataxia type 12 NCIT:C154316 @@ -36354,8 +35861,8 @@ MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym POT MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 oio:hasExactSynonym catecholaminergic polymorphic ventricular tachycardia type 1 catecholaminergic polymorphic ventricular tachycardia type 1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 NCIT:C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 catecholaminergic polymorphic ventricular tachycardia type 1 NCIT:C123414 MONDO:0011493 Stickler syndrome type 2 oio:hasExactSynonym Stickler syndrome type II Stickler syndrome type II Stickler Syndrome Type II NCIT:C74985 Stickler Syndrome Type 2 Stickler syndrome type II NCIT:C74985 MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym cortisone reductase deficiency type 1 cortisone reductase deficiency type 1 Cortisone Reductase Deficiency Type 1 NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency cortisone reductase deficiency type 1 NCIT:C131849 -MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-Phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 +MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym Bohring-Opitz syndrome Bohring-Opitz syndrome Bohring-Opitz Syndrome NCIT:C131533 Bohring-Opitz Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bohring-Opitz syndrome NCIT:C131533 MONDO:0011514 tricuspid atresia oio:hasExactSynonym congenital atresia of tricuspid valve congenital atresia of tricuspid valve Congenital Atresia of Tricuspid Valve NCIT:C85202 Tricuspid Valve Atresia congenital atresia of tricuspid valve NCIT:C85202 MONDO:0011514 tricuspid atresia oio:hasExactSynonym tricuspid atresia tricuspid atresia Tricuspid Atresia NCIT:C85202 Tricuspid Valve Atresia tricuspid atresia NCIT:C85202 @@ -36374,13 +35881,12 @@ MONDO:0011612 glycine encephalopathy oio:hasExactSynonym glycine encephalopathy MONDO:0011628 propionic acidemia oio:hasExactSynonym propionic acidemia propionic acidemia Propionic Acidemia NCIT:C85030 Propionic Acidemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL propionic acidemia NCIT:C85030 MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym ALS21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALS21 NCIT:C168755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis pars planitis NCIT:C34903 -MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis pars planitis NCIT:C35110 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym Phelan-McDermid syndrome Phelan-McDermid syndrome Phelan-McDermid Syndrome NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Phelan-McDermid syndrome NCIT:C157124 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym PHMDS NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHMDS NCIT:C157124 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft Part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft-part sarcoma alveolar soft-part sarcoma Alveolar soft-part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma alveolar soft-part sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym ASPS NCIT:C3750 Alveolar Soft Part Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASPS NCIT:C3750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym adult alveolar soft Part sarcoma adult alveolar soft Part sarcoma Adult Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma adult alveolar soft Part sarcoma NCIT:C7943 @@ -36449,7 +35955,6 @@ MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD NCIT:C53970 Osteofibrous Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD NCIT:C53970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent Ductus Arteriosus NCIT:C84492 Patent Ductus Arteriosus patent ductus arteriosus NCIT:C84492 MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C84492 Patent Ductus Arteriosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA NCIT:C84492 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C9120 Pancreatic Ductal Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA NCIT:C9120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid Hurthle cell carcinoma of the thyroid Hurthle Cell Carcinoma of the Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of the thyroid NCIT:C4946 MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid gland Hurthle cell carcinoma of the thyroid gland Hurthle Cell Carcinoma of the Thyroid Gland NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of the thyroid gland NCIT:C4946 MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of thyroid Hurthle cell carcinoma of thyroid Hurthle Cell Carcinoma of Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma Hurthle cell carcinoma of thyroid NCIT:C4946 @@ -36471,13 +35976,12 @@ MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym Niemann-Pick di MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym type C2 Niemann-Pick disease type C2 Niemann-Pick disease Type C2 Niemann-Pick Disease NCIT:C126865 Niemann-Pick Disease, Type C2 type C2 Niemann-Pick disease NCIT:C126865 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym Tubulointerstitial nephritis and uveitis Tubulointerstitial nephritis and uveitis Tubulointerstitial Nephritis and Uveitis NCIT:C123021 Tubulointerstitial Nephritis and Uveitis Tubulointerstitial nephritis and uveitis NCIT:C123021 MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E NCIT:C134953 Charcot-Marie-Tooth Disease Type 2E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2E NCIT:C134953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 Tosti syndrome NCIT:C176939 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair Noonan syndrome-like disorder with loose anagen hair Noonan Syndrome-Like Disorder with Loose Anagen Hair NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome-like disorder with loose anagen hair NCIT:C178129 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelogenous leukemia juvenile chronic myelogenous leukemia Juvenile Chronic Myelogenous Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myelogenous leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myeloid leukemia juvenile chronic myeloid leukemia Juvenile Chronic Myeloid Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myeloid leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelomonocytic leukemia juvenile chronic myelomonocytic leukemia Juvenile Chronic Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile chronic myelomonocytic leukemia NCIT:C9233 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 +MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia juvenile myelomonocytic leukemia NCIT:C9233 MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JCML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JCML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JMML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JMML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011913 Alzheimer disease 3 oio:hasExactSynonym Alzheimer's disease 3 Alzheimer's disease 3 Alzheimer's Disease 3 NCIT:C123412 Alzheimer's Disease 3 Alzheimer's disease 3 NCIT:C123412 @@ -36501,7 +36005,6 @@ MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibros MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym DFSP NCIT:C4683 Dermatofibrosarcoma Protuberans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DFSP NCIT:C4683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011959 sweet syndrome oio:hasExactSynonym sweet syndrome sweet syndrome Sweet Syndrome NCIT:C85177 Sweet Syndrome sweet syndrome NCIT:C85177 MONDO:0011962 endometrial cancer oio:hasExactSynonym malignant endometrial neoplasm malignant endometrial neoplasm Malignant Endometrial Neoplasm NCIT:C27815 Malignant Endometrial Neoplasm malignant endometrial neoplasm NCIT:C27815 -MONDO:0011962 endometrial cancer oio:hasExactSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma endometrial cancer NCIT:C7558 MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym CDGIj NCIT:C126874 Congenital Disorder of Glycosylation Type Ij CDGIj NCIT:C126874 MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ij congenital disorder of glycosylation type Ij Congenital Disorder of Glycosylation Type Ij NCIT:C126874 Congenital Disorder of Glycosylation Type Ij congenital disorder of glycosylation type Ij NCIT:C126874 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D oio:hasExactSynonym limb-girdle muscular dystrophy type 2D limb-girdle muscular dystrophy type 2D Limb-Girdle Muscular Dystrophy Type 2D NCIT:C142081 Limb-Girdle Muscular Dystrophy Type 2D limb-girdle muscular dystrophy type 2D NCIT:C142081 @@ -36647,13 +36150,11 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym early infantile epileptic encephalopathy 4 early infantile epileptic encephalopathy 4 Early Infantile Epileptic Encephalopathy 4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 early infantile epileptic encephalopathy 4 NCIT:C162472 MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym DEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym EIEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EIEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma NCIT:C4817 Ewing Sarcoma Ewing sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma Ewing Sarcoma NCIT:C4817 Ewing Sarcoma Ewing sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's sarcoma Ewing's sarcoma Ewing's Sarcoma NCIT:C4817 Ewing Sarcoma Ewing's sarcoma NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's tumor Ewing's tumor Ewing's Tumor NCIT:C4817 Ewing Sarcoma Ewing's tumor NCIT:C4817 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym PNET of Thoracopulmonary region PNET of Thoracopulmonary region PNET of Thoracopulmonary Region NCIT:C7542 Askin Tumor PNET of Thoracopulmonary region NCIT:C7542 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraosseous chondrosarcoma extraosseous chondrosarcoma Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma extraosseous chondrosarcoma NCIT:C27502 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraskeletal chondrosarcoma extraskeletal chondrosarcoma Extraskeletal Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma extraskeletal chondrosarcoma NCIT:C27502 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym myxoid extraosseous chondrosarcoma myxoid extraosseous chondrosarcoma Myxoid Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma myxoid extraosseous chondrosarcoma NCIT:C27502 @@ -36676,7 +36177,6 @@ MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hemophilia C MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary Factor XI deficiency hereditary Factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency hereditary Factor XI deficiency NCIT:C84705 MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency hereditary factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency hereditary factor XI deficiency NCIT:C84705 MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency disease hereditary factor XI deficiency disease Hereditary Factor XI Deficiency Disease NCIT:C84705 Hereditary Factor XI Deficiency hereditary factor XI deficiency disease NCIT:C84705 -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudopseudohypoparathyroidism NCIT:C129722 MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome NCIT:C122804 @@ -36736,8 +36236,8 @@ MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactS MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 stem cell syndrome 8p11 stem cell syndrome 8p11 Stem Cell Syndrome NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 8p11 stem cell syndrome NCIT:C84277 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with FGFR1 rearrangement myeloid and lymphoid neoplasms with FGFR1 rearrangement Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement myeloid and lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with FGFR1 rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 -MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 +MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency aromatase deficiency NCIT:C120144 MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym primary hyperoxaluria type III primary hyperoxaluria type III Primary Hyperoxaluria Type III NCIT:C123214 Primary Hyperoxaluria Type III primary hyperoxaluria type III NCIT:C123214 MONDO:0013333 odontoid hypoplasia oio:hasExactSynonym odontoid hypoplasia odontoid hypoplasia Odontoid Hypoplasia NCIT:C86969 Odontoid Hypoplasia odontoid hypoplasia NCIT:C86969 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency C1q Deficiency NCIT:C119990 C1q Deficiency C1q deficiency NCIT:C119990 @@ -36788,8 +36288,8 @@ MONDO:0013662 Barrett esophagus oio:hasExactSynonym columnar-lined esophagus co MONDO:0013662 Barrett esophagus oio:hasExactSynonym CELLO cello CELLO NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION CELLO NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym BE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration With Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 +MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym NBIA4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA4 NCIT:C175707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym alpha-methylacyl-CoA racemase deficiency alpha-methylacyl-CoA racemase deficiency Alpha-Methylacyl-CoA Racemase Deficiency NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alpha-methylacyl-CoA racemase deficiency NCIT:C119677 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym AMACR NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMACR NCIT:C119677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -36862,8 +36362,8 @@ MONDO:0014378 primary ciliary dyskinesia 29 oio:hasExactSynonym CILD29 NCIT:C MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroidism familial Dysalbuminemic hyperthyroidism Familial Dysalbuminemic Hyperthyroidism NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism familial Dysalbuminemic hyperthyroidism NCIT:C131813 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroxinemia familial Dysalbuminemic hyperthyroxinemia Familial Dysalbuminemic Hyperthyroxinemia NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism familial Dysalbuminemic hyperthyroxinemia NCIT:C131813 MONDO:0014452 familial dysfibrinogenemia oio:hasExactSynonym dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia NCIT:C131659 Dysfibrinogenemia dysfibrinogenemia NCIT:C131659 -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency CTLA4 haploinsufficiency NCIT:C126341 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CHAI chai CHAI NCIT:C126341 CTLA4 Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHAI NCIT:C126341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014521 progressive myoclonic epilepsy type 7 oio:hasExactSynonym EPM7 NCIT:C142804 Epilepsy, Progressive Myoclonic 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM7 NCIT:C142804 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect oio:hasExactSynonym mUPD14 syndrome mUPD14 syndrome mUPD14 Syndrome NCIT:C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome mUPD14 syndrome NCIT:C120409 @@ -36900,10 +36400,10 @@ MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym familia MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym FIHP NCIT:C94830 Hereditary Isolated Hyperparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FIHP NCIT:C94830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome 48, XXYY Syndrome NCIT:C89801 MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY syndrome 48, XXYY syndrome 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome 48, XXYY syndrome NCIT:C89801 -MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 -MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 +MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma soft tissue perineurioma NCIT:C6912 MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 +MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma intraneural perineurioma NCIT:C6911 MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma (WHO grade I) intraneural perineurioma (WHO grade I) Intraneural Perineurioma (WHO Grade I) NCIT:C6911 Intraneural Perineurioma intraneural perineurioma (WHO grade I) NCIT:C6911 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym myelodysplastic syndrome with Excess blasts-2 myelodysplastic syndrome with Excess blasts-2 Myelodysplastic Syndrome with Excess Blasts-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia myelodysplastic syndrome with Excess blasts-2 NCIT:C7168 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym MDS-EB-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-EB-2 NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -36913,17 +36413,17 @@ MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu Heavy Chain Disease NCIT:C3892 Mu Heavy Chain Disease mu heavy chain disease NCIT:C3892 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease Alpha heavy chain disease Alpha Heavy Chain Disease NCIT:C3132 Alpha Heavy Chain Disease Alpha heavy chain disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease NCIT:C3132 Alpha Heavy Chain Disease Alpha heavy chain disease NCIT:C3132 -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease Immunoproliferative small intestinal disease Immunoproliferative Small Intestinal Disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease Immunoproliferative small intestinal disease NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean abdominal lymphoma Mediterranean abdominal lymphoma Mediterranean Abdominal Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean abdominal lymphoma NCIT:C3132 -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease Mediterranean lymphoma NCIT:C3132 MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym IPSID NCIT:C3132 Alpha Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IPSID NCIT:C3132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease NCIT:C3083 Gamma Heavy Chain Disease Franklin disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease Franklin disease Franklin Disease NCIT:C3083 Gamma Heavy Chain Disease Franklin disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin's disease Franklin's disease Franklin's Disease NCIT:C3083 Gamma Heavy Chain Disease Franklin's disease NCIT:C3083 -MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma heavy chain disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 +MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease gamma heavy chain disease NCIT:C3083 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent Aphasia NCIT:C85025 Primary Progressive Nonfluent Aphasia Primary Progressive Nonfluent aphasia NCIT:C85025 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric NET gastric NET Gastric NET NCIT:C95871 Gastric Neuroendocrine Tumor gastric NET NCIT:C95871 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric neuroendocrine tumor gastric neuroendocrine tumor Gastric Neuroendocrine Tumor NCIT:C95871 Gastric Neuroendocrine Tumor gastric neuroendocrine tumor NCIT:C95871 @@ -36967,7 +36467,6 @@ MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid gland carcinoma of thyroid gland Carcinoma of Thyroid Gland NCIT:C4815 Thyroid Gland Carcinoma carcinoma of thyroid gland NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid carcinoma thyroid carcinoma Thyroid Carcinoma NCIT:C4815 Thyroid Gland Carcinoma thyroid carcinoma NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid gland carcinoma thyroid gland carcinoma Thyroid Gland Carcinoma NCIT:C4815 Thyroid Gland Carcinoma thyroid gland carcinoma NCIT:C4815 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune Adrenalitis NCIT:C113814 Autoimmune Primary Adrenal Insufficiency autoimmune adrenalitis NCIT:C113814 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Addison disease Addison Disease NCIT:C26689 Addison's Disease Addison disease NCIT:C26689 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison's disease Addison's disease Addison's Disease NCIT:C26689 Addison's Disease Addison's disease NCIT:C26689 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym primary hypoadrenalism primary hypoadrenalism Primary Hypoadrenalism NCIT:C26689 Addison's Disease primary hypoadrenalism NCIT:C26689 @@ -37092,18 +36591,15 @@ MONDO:0015528 congenital epulis oio:hasExactSynonym congenital epulis congenita MONDO:0015528 congenital epulis oio:hasExactSynonym congenital granular cell tumor congenital granular cell tumor Congenital Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis congenital granular cell tumor NCIT:C4675 MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym juvenile xanthogranuloma juvenile xanthogranuloma Juvenile Xanthogranuloma NCIT:C3451 Juvenile Xanthogranuloma juvenile xanthogranuloma NCIT:C3451 MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym JXG NCIT:C3451 Juvenile Xanthogranuloma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JXG NCIT:C3451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate Dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate cell histiocytosis indeterminate cell histiocytosis Indeterminate Cell Histiocytosis NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate cell histiocytosis NCIT:C81767 -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis indeterminate dendritic cell tumor NCIT:C81767 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis NCIT:C34792 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis hemophagocytic lymphohistiocytosis NCIT:C34792 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic syndrome hemophagocytic syndrome Hemophagocytic Syndrome NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis hemophagocytic syndrome NCIT:C61276 MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym reactive hemophagocytic lymphohistiocytosis reactive hemophagocytic lymphohistiocytosis Reactive Hemophagocytic Lymphohistiocytosis NCIT:C114471 Macrophage Activation Syndrome reactive hemophagocytic lymphohistiocytosis NCIT:C114471 MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman disease Castleman disease Castleman Disease NCIT:C3056 Castleman Disease Castleman disease NCIT:C3056 MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's disease Castleman's disease Castleman's Disease NCIT:C3056 Castleman Disease Castleman's disease NCIT:C3056 MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's tumor Castleman's tumor Castleman's Tumor NCIT:C3056 Castleman Disease Castleman's tumor NCIT:C3056 @@ -37138,21 +36634,21 @@ MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritone MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritoneal carcinoma primary peritoneal carcinoma Primary Peritoneal Carcinoma NCIT:C40022 Primary Peritoneal Carcinoma primary peritoneal carcinoma NCIT:C40022 MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym PPC NCIT:C40022 Primary Peritoneal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPC NCIT:C40022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym chronic eosinophilic leukemia chronic eosinophilic leukemia Chronic Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified chronic eosinophilic leukemia NCIT:C4563 -MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 +MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified eosinophilic leukemia NCIT:C4563 MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym CEL NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEL NCIT:C4563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRB rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 +MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 -MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 +MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome hypereosinophilic syndrome NCIT:C27038 MONDO:0015692 refractory anemia with excess blasts in transformation oio:hasExactSynonym RAEB-T RAEB-t RAEB-T NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAEB-T NCIT:C27080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy Transient Hypogammaglobulinemia of Infancy NCIT:C27071 Transient Hypogammaglobulinemia of Infancy transient hypogammaglobulinemia of infancy NCIT:C27071 MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym THI NCIT:C27071 Transient Hypogammaglobulinemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION THI NCIT:C27071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -37195,18 +36691,18 @@ MONDO:0015806 adult intestinal botulism oio:hasExactSynonym adult intestinal to MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym follicular mycosis fungoides follicular mycosis fungoides Follicular Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides follicular mycosis fungoides NCIT:C35685 MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym folliculotropic mycosis fungoides folliculotropic mycosis fungoides Folliculotropic Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides folliculotropic mycosis fungoides NCIT:C35685 MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym mycosis fungoides-associated follicular mucinosis mycosis fungoides-associated follicular mucinosis Mycosis Fungoides-Associated Follicular Mucinosis NCIT:C35685 Folliculotropic Mycosis Fungoides mycosis fungoides-associated follicular mucinosis NCIT:C35685 -MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 +MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis pagetoid reticulosis NCIT:C35794 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym cutaneous Immunocytoma cutaneous Immunocytoma Cutaneous Immunocytoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder cutaneous Immunocytoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of skin marginal zone B cell lymphoma of skin Marginal Zone B Cell Lymphoma of Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder marginal zone B cell lymphoma of skin NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of the skin marginal zone B cell lymphoma of the skin Marginal Zone B Cell Lymphoma of the Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder marginal zone B cell lymphoma of the skin NCIT:C7230 -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder salt lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-Associated Lymphoid Tissue Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder skin-associated lymphoid tissue lymphoma NCIT:C7230 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym C-MALT NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION C-MALT NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym PCMZL NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCMZL NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym Crosti's disease Crosti's disease Crosti's Disease NCIT:C7217 Primary Cutaneous Follicle Center Lymphoma Crosti's disease NCIT:C7217 @@ -37217,8 +36713,8 @@ MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym PC MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell neoplasm combined germ cell neoplasm Combined Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor combined germ cell neoplasm NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell tumor combined germ cell tumor Combined Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor combined germ cell tumor NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell neoplasm mixed germ cell neoplasm Mixed Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell neoplasm NCIT:C4290 -MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 +MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor mixed germ cell tumor NCIT:C4290 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of the vagina carcinoma of the vagina Carcinoma of the Vagina NCIT:C3917 Vaginal Carcinoma carcinoma of the vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of vagina carcinoma of vagina Carcinoma of Vagina NCIT:C3917 Vaginal Carcinoma carcinoma of vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym vagina carcinoma vagina carcinoma Vagina Carcinoma NCIT:C3917 Vaginal Carcinoma vagina carcinoma NCIT:C3917 @@ -37233,7 +36729,6 @@ MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget disease of MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of nipple Paget's disease of nipple Paget's Disease of Nipple NCIT:C3301 Nipple Paget Disease Paget's disease of nipple NCIT:C3301 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of the nipple Paget's disease of the nipple Paget's Disease of the Nipple NCIT:C3301 Nipple Paget Disease Paget's disease of the nipple NCIT:C3301 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym nipple Paget's disease nipple Paget's disease Nipple Paget's Disease NCIT:C3301 Nipple Paget Disease nipple Paget's disease NCIT:C3301 -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease Paget's Disease of the Breast NCIT:C47857 MONDO:0015892 growth hormone insensitivity syndrome oio:hasExactSynonym Growth hormone insensitivity syndromes Growth hormone insensitivity syndromes Growth Hormone Insensitivity Syndromes NCIT:C129867 Growth Hormone Insensitivity Syndrome Growth hormone insensitivity syndromes NCIT:C129867 MONDO:0015903 hyperalphalipoproteinemia oio:hasExactSynonym HALP1 NCIT:C128806 Hyperalphalipoproteinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HALP1 NCIT:C128806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym May-Hegglin anomaly May-Hegglin anomaly May-Hegglin Anomaly NCIT:C131646 May-Hegglin Anomaly May-Hegglin anomaly NCIT:C131646 @@ -37251,9 +36746,7 @@ MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynon MONDO:0016001 2-hydroxyglutaric aciduria oio:hasExactSynonym 2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria 2-Hydroxyglutaric Aciduria NCIT:C128187 2-Hydroxyglutaric Aciduria 2-hydroxyglutaric aciduria NCIT:C128187 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal Coumadin syndrome fetal Coumadin syndrome Fetal Coumadin Syndrome NCIT:C98906 Fetal Warfarin Syndrome fetal Coumadin syndrome NCIT:C98906 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal warfarin syndrome fetal warfarin syndrome Fetal Warfarin Syndrome NCIT:C98906 Fetal Warfarin Syndrome fetal warfarin syndrome NCIT:C98906 -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD NCIT:C92727 Alcohol Related Birth Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARBD NCIT:C92727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis Rasmussen Encephalitis NCIT:C125384 MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen encephalitis Rasmussen encephalitis Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis Rasmussen encephalitis NCIT:C125384 MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym chronic focal encephalitis chronic focal encephalitis Chronic Focal Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis chronic focal encephalitis NCIT:C125384 @@ -37301,7 +36794,6 @@ MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasE MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasExactSynonym isolated hyperCKemia isolated hyperCKemia Isolated HyperCKemia NCIT:C148327 HyperCKmia isolated hyperCKemia NCIT:C148327 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic Gastroenteritis NCIT:C35330 Eosinophilic Gastroenteritis eosinophilic gastroenteritis NCIT:C35330 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym spinocerebellar ataxia type 7 spinocerebellar ataxia type 7 Spinocerebellar Ataxia Type 7 NCIT:C126562 Spinocerebellar Ataxia Type 7 spinocerebellar ataxia type 7 NCIT:C126562 -MONDO:0016167 optic pathway glioma oio:hasExactSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma visual pathway glioma NCIT:C7535 MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of the visual pathway glioma of the visual pathway Glioma of the Visual Pathway NCIT:C8567 Visual Pathway Glioma glioma of the visual pathway NCIT:C8567 MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of visual pathway glioma of visual pathway Glioma of Visual Pathway NCIT:C8567 Visual Pathway Glioma glioma of visual pathway NCIT:C8567 MONDO:0016167 optic pathway glioma oio:hasExactSynonym optic pathway glioma optic pathway glioma Optic Pathway Glioma NCIT:C8567 Visual Pathway Glioma optic pathway glioma NCIT:C8567 @@ -37321,23 +36813,21 @@ MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barre syndro MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barré syndrome Guillain Barré syndrome Guillain Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome Guillain Barré syndrome NCIT:C116345 MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain-Barré syndrome Guillain-Barré syndrome Guillain-Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome Guillain-Barré syndrome NCIT:C116345 MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C116345 Guillain-Barre Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBS NCIT:C116345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C87168 Group B Streptococcal Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBS NCIT:C87168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle -cell hemangioma spindle -cell hemangioma Spindle -Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma spindle -cell hemangioma NCIT:C4754 -MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle cell hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 +MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioendothelioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioma spindle cell hemangioma Spindle Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma spindle cell hemangioma NCIT:C4754 MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym SCH SCh SCH NCIT:C4754 Spindle Cell Hemangioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCH NCIT:C4754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 +MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma Kaposiform hemangioendothelioma NCIT:C27510 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous mesothelioma localized fibrous mesothelioma Localized Fibrous Mesothelioma NCIT:C7634 Solitary Fibrous Tumor localized fibrous mesothelioma NCIT:C7634 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized fibrous tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor localized fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary fibrous tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor solitary fibrous tumor NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym submesothelial fibroma submesothelial fibroma Submesothelial Fibroma NCIT:C7634 Solitary Fibrous Tumor submesothelial fibroma NCIT:C7634 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym SFT NCIT:C7634 Solitary Fibrous Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SFT NCIT:C7634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis cystinosis Cystinosis NCIT:C2976 Cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cystinosis NCIT:C2976 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita adrenal hypoplasia congenita NCIT:C123725 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia adrenal hypoplasia congenita NCIT:C35261 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal Hypoplasia NCIT:C35261 MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal gland hypoplasia congenital adrenal gland hypoplasia Congenital Adrenal Gland Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia congenital adrenal gland hypoplasia NCIT:C35261 @@ -37417,7 +36907,6 @@ MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AAP MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AFAP NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFAP NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym HFAS NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFAS NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016367 dermatomyositis oio:hasExactSynonym dermatomyositis dermatomyositis Dermatomyositis NCIT:C26744 Dermatomyositis dermatomyositis NCIT:C26744 -MONDO:0016367 dermatomyositis oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016391 neonatal diabetes mellitus oio:hasExactSynonym congenital diabetes mellitus congenital diabetes mellitus Congenital Diabetes Mellitus NCIT:C99248 Neonatal Diabetes Mellitus congenital diabetes mellitus NCIT:C99248 MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym TSH deficiency TSH deficiency TSH Deficiency NCIT:C113144 Central Hypothyroidism TSH deficiency NCIT:C113144 MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym central hypothyroidism central hypothyroidism Central Hypothyroidism NCIT:C113144 Central Hypothyroidism central hypothyroidism NCIT:C113144 @@ -37465,10 +36954,10 @@ MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of lung congenital cystic adenomatoid malformation of lung Congenital Cystic Adenomatoid Malformation of Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung congenital cystic adenomatoid malformation of lung NCIT:C98892 MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of the lung congenital cystic adenomatoid malformation of the lung Congenital Cystic Adenomatoid Malformation of the Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung congenital cystic adenomatoid malformation of the lung NCIT:C98892 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic mastocytosis systemic mastocytosis Systemic Mastocytosis NCIT:C9235 Systemic Mastocytosis systemic mastocytosis NCIT:C9235 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue Mast cell disease NCIT:C9235 MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis systemic tissue mast cell disease NCIT:C9235 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic RVD arrhythmogenic RVD Arrhythmogenic RVD NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia arrhythmogenic RVD NCIT:C84571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia Arrhythmogenic Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia arrhythmogenic right ventricular dysplasia NCIT:C84571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym right ventricular dysplasia right ventricular dysplasia Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia right ventricular dysplasia NCIT:C84571 @@ -37480,7 +36969,6 @@ MONDO:0016611 lipoblastoma oio:hasExactSynonym embryonic lipoma embryonic lipom MONDO:0016611 lipoblastoma oio:hasExactSynonym fetal lipoma fetal lipoma Fetal Lipoma NCIT:C27483 Lipoblastoma fetal lipoma NCIT:C27483 MONDO:0016611 lipoblastoma oio:hasExactSynonym infantile lipoma infantile lipoma Infantile Lipoma NCIT:C27483 Lipoblastoma infantile lipoma NCIT:C27483 MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma meningioma NCIT:C3230 -MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma meningioma NCIT:C8264 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym rose cluster 5 rose cluster 5 ROSE Cluster 5 NCIT:C121984 ROSE Cluster 5 rose cluster 5 NCIT:C121984 MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced cutaneous vasculitis drug induced cutaneous vasculitis Drug Induced Cutaneous Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis drug induced cutaneous vasculitis NCIT:C112204 MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced vasculitis drug induced vasculitis Drug Induced Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis drug induced vasculitis NCIT:C112204 @@ -37513,19 +37001,18 @@ MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytic tumor MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytoma grade II astrocytoma Grade II Astrocytoma NCIT:C7173 Diffuse Astrocytoma grade II astrocytoma NCIT:C7173 MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic astrocytoma NCIT:C4320 Protoplasmic Astrocytoma protoplasmic astrocytoma NCIT:C4320 MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic Astrocytoma NCIT:C4320 Protoplasmic Astrocytoma protoplasmic astrocytoma NCIT:C4320 -MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 +MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma fibrillary astrocytoma NCIT:C4322 MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym Gemistocytoma NCIT:C4321 Gemistocytic Astrocytoma Gemistocytoma NCIT:C4321 -MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 +MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma gemistocytic astrocytoma NCIT:C4321 MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym pleomorphic Xantho-astrocytoma pleomorphic Xantho-astrocytoma Pleomorphic Xantho-Astrocytoma NCIT:C4323 Pleomorphic Xanthoastrocytoma pleomorphic Xantho-astrocytoma NCIT:C4323 MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym PXA NCIT:C4323 Pleomorphic Xanthoastrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PXA NCIT:C4323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic neoplasm grade I astrocytic neoplasm Grade I Astrocytic Neoplasm NCIT:C4047 Pilocytic Astrocytoma grade I astrocytic neoplasm NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic tumor grade I astrocytic tumor Grade I Astrocytic Tumor NCIT:C4047 Pilocytic Astrocytoma grade I astrocytic tumor NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytoma grade I astrocytoma Grade I Astrocytoma NCIT:C4047 Pilocytic Astrocytoma grade I astrocytoma NCIT:C4047 -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4048 +MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma pilocytic astrocytoma NCIT:C4047 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic neoplasm Subependymal Giant Cell Astrocytic Neoplasm NCIT:C3696 Subependymal Giant Cell Astrocytoma subependymal giant cell astrocytic neoplasm NCIT:C3696 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic tumor subependymal giant cell astrocytic tumor Subependymal Giant Cell Astrocytic Tumor NCIT:C3696 Subependymal Giant Cell Astrocytoma subependymal giant cell astrocytic tumor NCIT:C3696 MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym SEGA NCIT:C3696 Subependymal Giant Cell Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEGA NCIT:C3696 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -37534,8 +37021,6 @@ MONDO:0016695 oligodendroglioma oio:hasExactSynonym WHO grade II oligodendrogli MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma oligodendroglioma NCIT:C3288 MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglial tumor well differentiated oligodendroglial tumor Well Differentiated Oligodendroglial Tumor NCIT:C3288 Oligodendroglioma well differentiated oligodendroglial tumor NCIT:C3288 MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglioma well differentiated oligodendroglioma Well Differentiated Oligodendroglioma NCIT:C3288 Oligodendroglioma well differentiated oligodendroglioma NCIT:C3288 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma oligodendroglioma NCIT:C4014 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma oligodendroglioma NCIT:C4045 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial neoplasm WHO grade III oligodendroglial neoplasm WHO Grade III Oligodendroglial Neoplasm NCIT:C4326 Anaplastic Oligodendroglioma WHO grade III oligodendroglial neoplasm NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial tumor WHO grade III oligodendroglial tumor WHO Grade III Oligodendroglial Tumor NCIT:C4326 Anaplastic Oligodendroglioma WHO grade III oligodendroglial tumor NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym anaplastic oligodendroglioma anaplastic oligodendroglioma Anaplastic Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma anaplastic oligodendroglioma NCIT:C4326 @@ -37543,7 +37028,6 @@ MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym malignant oligod MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym oligodendroglioma, malignant oligodendroglioma, malignant Oligodendroglioma, Malignant NCIT:C4326 Anaplastic Oligodendroglioma oligodendroglioma, malignant NCIT:C4326 MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym undifferentiated oligodendroglioma undifferentiated oligodendroglioma Undifferentiated Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma undifferentiated oligodendroglioma NCIT:C4326 MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma ependymoma NCIT:C3017 -MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma ependymoma NCIT:C8578 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma ependymoma, benign NCIT:C3697 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary Ependymoma NCIT:C3697 Myxopapillary Ependymoma myxopapillary ependymoma NCIT:C3697 MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary ependymoma NCIT:C3697 Myxopapillary Ependymoma myxopapillary ependymoma NCIT:C3697 @@ -37556,7 +37040,6 @@ MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym malignant ependymoma ma MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal neoplasm undifferentiated ependymal neoplasm Undifferentiated Ependymal Neoplasm NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymal neoplasm NCIT:C4049 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal tumor undifferentiated ependymal tumor Undifferentiated Ependymal Tumor NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymal tumor NCIT:C4049 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymoma undifferentiated ependymoma Undifferentiated Ependymoma NCIT:C4049 Anaplastic Ependymoma undifferentiated ependymoma NCIT:C4049 -MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma anaplastic ependymoma NCIT:C8269 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym WHO grade II mixed glioma WHO grade II mixed glioma WHO Grade II Mixed Glioma NCIT:C4050 Oligoastrocytoma WHO grade II mixed glioma NCIT:C4050 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym glioma, mixed, benign glioma, mixed, benign GLIOMA, MIXED, BENIGN NCIT:C4050 Oligoastrocytoma glioma, mixed, benign NCIT:C4050 MONDO:0016702 oligoastrocytoma oio:hasExactSynonym mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial neoplasm Mixed Astrocytic-Oligodendroglial Neoplasm NCIT:C4050 Oligoastrocytoma mixed astrocytic-oligodendroglial neoplasm NCIT:C4050 @@ -37577,14 +37060,14 @@ MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordo MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the 3rd ventricle chordoid glioma of the 3rd ventricle Chordoid Glioma of the 3rd Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of the 3rd ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle chordoid glioma of the third ventricle Chordoid Glioma of the Third Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of the third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle (WHO grade II) chordoid glioma of the third ventricle (WHO grade II) Chordoid Glioma of the Third Ventricle (WHO Grade II) NCIT:C5592 Chordoid Glioma chordoid glioma of the third ventricle (WHO grade II) NCIT:C5592 -MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid Glioma of Third Ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 +MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma chordoid glioma of third ventricle NCIT:C5592 MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym third ventricle chordoid glioma third ventricle chordoid glioma Third Ventricle Chordoid Glioma NCIT:C5592 Chordoid Glioma third ventricle chordoid glioma NCIT:C5592 MONDO:0016707 astroblastoma oio:hasExactSynonym astroblastoma astroblastoma Astroblastoma NCIT:C4324 Astroblastoma, MN1-Altered astroblastoma NCIT:C4324 MONDO:0016709 anaplastic/large cell medulloblastoma oio:hasExactSynonym large cell/anaplastic medulloblastoma large cell/anaplastic medulloblastoma Large Cell/Anaplastic Medulloblastoma NCIT:C129436 Large Cell/Anaplastic Medulloblastoma large cell/anaplastic medulloblastoma NCIT:C129436 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym cerebellar neuroblastoma cerebellar neuroblastoma Cerebellar Neuroblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity cerebellar neuroblastoma NCIT:C5407 -MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 +MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity and advanced neuronal differentiation medulloblastoma with extensive nodularity and advanced neuronal differentiation Medulloblastoma with Extensive Nodularity and Advanced Neuronal Differentiation NCIT:C5407 Medulloblastoma with Extensive Nodularity medulloblastoma with extensive nodularity and advanced neuronal differentiation NCIT:C5407 MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym nodular medulloblastoma nodular medulloblastoma Nodular Medulloblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity nodular medulloblastoma NCIT:C5407 MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym Desmoplastic medulloblastoma Desmoplastic medulloblastoma Desmoplastic Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma Desmoplastic medulloblastoma NCIT:C4956 @@ -37602,22 +37085,18 @@ MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multila MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C4915 MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with abundant neuropil and true Rosettes embryonal tumor with abundant neuropil and true Rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with abundant neuropil and true Rosettes NCIT:C4915 MONDO:0016715 ependymoblastoma oio:hasExactSynonym ependymoblastoma ependymoblastoma Ependymoblastoma NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered ependymoblastoma NCIT:C4915 -MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C8290 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus tumor choroid plexus tumor Choroid Plexus Tumor NCIT:C3473 Choroid Plexus Neoplasm choroid plexus tumor NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of choroid plexus neoplasm of choroid plexus Neoplasm of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm neoplasm of choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of the choroid plexus neoplasm of the choroid plexus Neoplasm of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm neoplasm of the choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm tumor of choroid plexus NCIT:C3473 MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of the choroid plexus tumor of the choroid plexus Tumor of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm tumor of the choroid plexus NCIT:C3473 -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C42080 -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm choroid plexus neoplasm NCIT:C8568 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma anaplastic choroid plexus papilloma Anaplastic Choroid Plexus Papilloma NCIT:C4715 Choroid Plexus Carcinoma anaplastic choroid plexus papilloma NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of choroid plexus carcinoma of choroid plexus Carcinoma of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma carcinoma of choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of the choroid plexus carcinoma of the choroid plexus Carcinoma of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma carcinoma of the choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma, choroid plexus, malignant carcinoma, choroid plexus, malignant CARCINOMA, CHOROID PLEXUS, MALIGNANT NCIT:C4715 Choroid Plexus Carcinoma carcinoma, choroid plexus, malignant NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma choroid plexus carcinoma NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma choroid plexus carcinoma NCIT:C4715 -MONDO:0016722 pineoblastoma oio:hasExactSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma pineoblastoma NCIT:C8292 MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of pineal gland PNET of pineal gland PNET of Pineal Gland NCIT:C9344 Pineoblastoma PNET of pineal gland NCIT:C9344 MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of the pineal gland PNET of the pineal gland PNET of the Pineal Gland NCIT:C9344 Pineoblastoma PNET of the pineal gland NCIT:C9344 MONDO:0016722 pineoblastoma oio:hasExactSynonym pineal PNET pineal PNET Pineal PNET NCIT:C9344 Pineoblastoma pineal PNET NCIT:C9344 @@ -37647,10 +37126,9 @@ MONDO:0016729 mixed neuronal-glial tumor oio:hasExactSynonym neuronal and mixed MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma NCIT:C3788 Ganglioglioma ganglioglioma NCIT:C3788 MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym papillary glioneuronal tumor (WHO grade I) papillary glioneuronal tumor (WHO grade I) Papillary Glioneuronal Tumor (WHO Grade I) NCIT:C92554 Papillary Glioneuronal Tumor papillary glioneuronal tumor (WHO grade I) NCIT:C92554 MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym PGNT NCIT:C92554 Papillary Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PGNT NCIT:C92554 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-Forming Glioneuronal Tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor rosette-forming glioneuronal tumor NCIT:C129431 MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym RGNT NCIT:C129431 Rosette-Forming Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RGNT NCIT:C129431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor central nervous system yolk Sac tumor NCIT:C6209 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym CNS yolk Sac tumor CNS yolk Sac tumor CNS Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor CNS yolk Sac tumor NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor central nervous system yolk Sac tumor NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of CNS yolk Sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of CNS NCIT:C7011 @@ -37658,13 +37136,9 @@ MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of the CNS NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the central nervous system yolk Sac tumor of the central nervous system Yolk Sac Tumor of the Central Nervous System NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk Sac tumor of the central nervous system NCIT:C7011 MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk sac tumor of CNS yolk sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor yolk sac tumor of CNS NCIT:C7011 -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C5793 -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C6206 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma central nervous system choriocarcinoma NCIT:C7012 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of CNS choriocarcinoma of CNS Choriocarcinoma of CNS NCIT:C7012 Central Nervous System Choriocarcinoma choriocarcinoma of CNS NCIT:C7012 MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of the CNS choriocarcinoma of the CNS Choriocarcinoma of the CNS NCIT:C7012 Central Nervous System Choriocarcinoma choriocarcinoma of the CNS NCIT:C7012 -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C27402 -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C27403 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym CNS mixed germ cell tumor CNS mixed germ cell tumor CNS Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor CNS mixed germ cell tumor NCIT:C7016 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor central nervous system mixed germ cell tumor NCIT:C7016 MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym mixed germ cell neoplasm of the central nervous system mixed germ cell neoplasm of the central nervous system Mixed Germ Cell Neoplasm of the Central Nervous System NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor mixed germ cell neoplasm of the central nervous system NCIT:C7016 @@ -37737,14 +37211,12 @@ MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma hemangiosarcoma MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma, malignant hemangiosarcoma, malignant HEMANGIOSARCOMA, MALIGNANT NCIT:C3088 Angiosarcoma hemangiosarcoma, malignant NCIT:C3088 MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant angioendothelioma malignant angioendothelioma Malignant Angioendothelioma NCIT:C3088 Angiosarcoma malignant angioendothelioma NCIT:C3088 MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant hemangioendothelioma malignant hemangioendothelioma Malignant Hemangioendothelioma NCIT:C3088 Angiosarcoma malignant hemangioendothelioma NCIT:C3088 -MONDO:0016982 angiosarcoma oio:hasExactSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma angiosarcoma NCIT:C9174 MONDO:0016984 nevus of Ota oio:hasExactSynonym Ota's Nevus NCIT:C7583 Nevus of Ota Ota's Nevus NCIT:C7583 MONDO:0016984 nevus of Ota oio:hasExactSynonym oculocutaneous melanocytic Nevus oculocutaneous melanocytic Nevus Oculocutaneous Melanocytic Nevus NCIT:C7583 Nevus of Ota oculocutaneous melanocytic Nevus NCIT:C7583 MONDO:0016984 nevus of Ota oio:hasExactSynonym oculodermal melanocytosis oculodermal melanocytosis Oculodermal Melanocytosis NCIT:C7583 Nevus of Ota oculodermal melanocytosis NCIT:C7583 MONDO:0016985 nevus of Ito oio:hasExactSynonym Ito's Nevus NCIT:C7582 Nevus of Ito Ito's Nevus NCIT:C7582 MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym childhood Langerhans cell histiocytosis childhood Langerhans cell histiocytosis Childhood Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis childhood Langerhans cell histiocytosis NCIT:C114483 MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym adult Langerhans cell histiocytosis adult Langerhans cell histiocytosis Adult Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis adult Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C3944 Congenital Melanocytic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMN NCIT:C3944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym congenital mesoblastic nephroma congenital mesoblastic nephroma Congenital Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma congenital mesoblastic nephroma NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym stromal nephroma, malignant stromal nephroma, malignant STROMAL NEPHROMA, MALIGNANT NCIT:C6569 Congenital Mesoblastic Nephroma stromal nephroma, malignant NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C6569 Congenital Mesoblastic Nephroma http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMN NCIT:C6569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -37752,8 +37224,8 @@ MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym Myxoma peritonei Myxom MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym gelatinous ascites gelatinous ascites Gelatinous Ascites NCIT:C3345 Pseudomyxoma Peritonei gelatinous ascites NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym mucinous ascites mucinous ascites Mucinous Ascites NCIT:C3345 Pseudomyxoma Peritonei mucinous ascites NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym peritoneal cavity pseudomyxoma peritonei peritoneal cavity pseudomyxoma peritonei Peritoneal Cavity Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei peritoneal cavity pseudomyxoma peritonei NCIT:C3345 -MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 +MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei pseudomyxoma peritonei NCIT:C3345 MONDO:0017050 intraocular medulloepithelioma oio:hasExactSynonym intraocular medulloepithelioma intraocular medulloepithelioma Intraocular Medulloepithelioma NCIT:C66806 Ciliary Body Medulloepithelioma intraocular medulloepithelioma NCIT:C66806 MONDO:0017069 spina bifida cystica oio:hasExactSynonym meningomyelocele meningomyelocele Meningomyelocele NCIT:C101201 Myelomeningocele meningomyelocele NCIT:C101201 MONDO:0017078 cephalocele oio:hasExactSynonym cranium bifidum cranium bifidum Cranium Bifidum NCIT:C84687 Encephalocele cranium bifidum NCIT:C84687 @@ -37765,7 +37237,6 @@ MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G syndrome Opitz G MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G/BBB syndrome Opitz G/BBB syndrome Opitz G/BBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome Opitz G/BBB syndrome NCIT:C125487 MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz GBBB syndrome Opitz GBBB syndrome Opitz GBBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome Opitz GBBB syndrome NCIT:C125487 MONDO:0017148 heritable pulmonary arterial hypertension oio:hasExactSynonym HPAH HpaH HPAH NCIT:C121945 Heritable Pulmonary Arterial Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPAH NCIT:C121945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 multiple endocrine adenomatosis NCIT:C3225 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym men syndromes men syndromes MEN Syndromes NCIT:C6432 Multiple Endocrine Neoplasia men syndromes NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine adenomatosis NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple Endocrine Neoplasia NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine neoplasia NCIT:C6432 @@ -37773,32 +37244,26 @@ MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocri MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia syndrome(s) multiple endocrine neoplasia syndrome(s) Multiple Endocrine Neoplasia Syndrome(s) NCIT:C6432 Multiple Endocrine Neoplasia multiple endocrine neoplasia syndrome(s) NCIT:C6432 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym MEN NCIT:C6432 Multiple Endocrine Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MEN NCIT:C6432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis Dissecans NCIT:C34878 Osteochondritis Dissecans osteochondritis dissecans NCIT:C34878 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism congenital hyperinsulinism NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym hyperinsulinemia of infancy hyperinsulinemia of infancy Hyperinsulinemia of Infancy NCIT:C131425 Congenital Hyperinsulinism hyperinsulinemia of infancy NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym neonatal hyperinsulinism neonatal hyperinsulinism Neonatal Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism neonatal hyperinsulinism NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism nesidioblastosis NCIT:C131425 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym HHI NCIT:C131425 Congenital Hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHI NCIT:C131425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis nesidioblastosis NCIT:C4375 MONDO:0017194 Blount disease oio:hasExactSynonym Blount disease Blount disease Blount Disease NCIT:C118460 Blount's Disease Blount disease NCIT:C118460 MONDO:0017194 Blount disease oio:hasExactSynonym Blount's disease Blount's disease Blount's Disease NCIT:C118460 Blount's Disease Blount's disease NCIT:C118460 -MONDO:0017198 osteopetrosis oio:hasExactSynonym Albers-Schonberg disease Albers-Schonberg disease Albers-Schonberg Disease NCIT:C129732 Autosomal Dominant Osteopetrosis Albers-Schonberg disease NCIT:C129732 -MONDO:0017198 osteopetrosis oio:hasExactSynonym marble bone disease marble bone disease Marble Bone Disease NCIT:C129732 Autosomal Dominant Osteopetrosis marble bone disease NCIT:C129732 MONDO:0017198 osteopetrosis oio:hasExactSynonym osteopetrosis osteopetrosis Osteopetrosis NCIT:C26840 Osteopetrosis osteopetrosis NCIT:C26840 MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym RPGN NCIT:C35264 Rapidly Progressive Glomerulonephritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RPGN NCIT:C35264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis NCIT:C84989 Panuveitis panuveitis NCIT:C84989 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome Autoimmune Polyendocrine Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyendocrine syndrome NCIT:C129726 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune Polyglandular Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyglandular syndrome NCIT:C129726 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome(s) autoimmune polyglandular syndrome(s) Autoimmune Polyglandular Syndrome(s) NCIT:C129726 Autoimmune Polyglandular Syndrome autoimmune polyglandular syndrome(s) NCIT:C129726 -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome NCIT:C61283 Antiphospholipid Syndrome Antiphospholipid Syndrome NCIT:C61283 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune Polyendocrinopathy NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome autoimmune polyendocrinopathy NCIT:C84576 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy syndrome autoimmune polyendocrinopathy syndrome Autoimmune Polyendocrinopathy Syndrome NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome autoimmune polyendocrinopathy syndrome NCIT:C84576 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym congenital penoscrotal transposition congenital penoscrotal transposition Congenital Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition congenital penoscrotal transposition NCIT:C99010 MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition penoscrotal transposition NCIT:C99010 MONDO:0017287 IgG4-related disease oio:hasExactSynonym IgG4-related sclerosing disease IgG4-related sclerosing disease IgG4-Related Sclerosing Disease NCIT:C95992 IgG4-Related Disease IgG4-related sclerosing disease NCIT:C95992 -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal lung adenocarcinoma fetal lung adenocarcinoma Fetal Lung Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma fetal lung adenocarcinoma NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary adenocarcinoma of fetal type pulmonary adenocarcinoma of fetal type Pulmonary Adenocarcinoma of Fetal Type NCIT:C45509 Lung Fetal Adenocarcinoma pulmonary adenocarcinoma of fetal type NCIT:C45509 MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary endodermal tumor resembling fetal lung pulmonary endodermal tumor resembling fetal lung Pulmonary Endodermal Tumor Resembling Fetal Lung NCIT:C45509 Lung Fetal Adenocarcinoma pulmonary endodermal tumor resembling fetal lung NCIT:C45509 @@ -37813,15 +37278,14 @@ MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym i MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym IDH NCIT:C129260 IDH Gene Family http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IDH NCIT:C129260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal angiofibroma nasopharyngeal angiofibroma Nasopharyngeal Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma nasopharyngeal angiofibroma NCIT:C27479 MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal juvenile angiofibroma nasopharyngeal juvenile angiofibroma Nasopharyngeal Juvenile Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma nasopharyngeal juvenile angiofibroma NCIT:C27479 -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive Diffuse Large B-Cell Lymphoma, NOS NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified EBV-Positive diffuse large B-cell lymphoma, NOS NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-Associated B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Senile EBV-associated B-cell lymphoproliferative disorder NCIT:C80281 MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym age-related EBV Positive B-cell lymphoproliferative disorder age-related EBV Positive B-cell lymphoproliferative disorder Age-Related EBV Positive B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified age-related EBV Positive B-cell lymphoproliferative disorder NCIT:C80281 -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C4671 Breast Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBL NCIT:C4671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 +MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma Plasmablastic lymphoma NCIT:C7224 MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C7224 Plasmablastic Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBL NCIT:C7224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017349 myopericytoma oio:hasExactSynonym solitary myofibroma solitary myofibroma Solitary Myofibroma NCIT:C50401 Myopericytoma solitary myofibroma NCIT:C50401 MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella congenital rubella Congenital Rubella NCIT:C34992 Congenital Rubella congenital rubella NCIT:C34992 @@ -37839,25 +37303,20 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposi MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym malignant migrating Partial seizures in infancy malignant migrating Partial seizures in infancy Malignant Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy malignant migrating Partial seizures in infancy NCIT:C125387 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym migrating Partial seizures in infancy migrating Partial seizures in infancy Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy migrating Partial seizures in infancy NCIT:C125387 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym MMPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MMPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma, adult type pleomorphic rhabdomyosarcoma, adult type Pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma NCIT:C4258 -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma pleomorphic rhabdomyosarcoma NCIT:C7959 -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid cell sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 +MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid cell sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma epithelioid sarcoma NCIT:C3714 MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma epithelioid sarcoma NCIT:C7944 -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma epithelioid sarcoma NCIT:C8095 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD syndrome ROHHAD syndrome ROHHAD Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation ROHHAD syndrome NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome NCIT:C121944 MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ROHHAD NCIT:C121944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017409 fetal cytomegalovirus syndrome oio:hasExactSynonym congenital Cytomegaloviral infection congenital Cytomegaloviral infection Congenital Cytomegaloviral Infection NCIT:C122427 Congenital Cytomegaloviral Infection congenital Cytomegaloviral infection NCIT:C122427 -MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia phocomelia NCIT:C34928 MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia PHOCOMELIA NCIT:C34928 Phocomelia phocomelia NCIT:C34928 +MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia phocomelia NCIT:C34928 MONDO:0017462 congenital pseudoarthrosis of the tibia oio:hasExactSynonym congenital pseudarthrosis of tibia congenital pseudarthrosis of tibia Congenital Pseudarthrosis of Tibia NCIT:C132080 Congenital Pseudarthrosis of Tibia congenital pseudarthrosis of tibia NCIT:C132080 MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym genu recurvatum genu recurvatum Genu Recurvatum NCIT:C103184 Genu Recurvatum genu recurvatum NCIT:C103184 MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym hyperextension deformity of knee hyperextension deformity of knee Hyperextension Deformity of Knee NCIT:C103184 Genu Recurvatum hyperextension deformity of knee NCIT:C103184 @@ -37912,7 +37371,6 @@ MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZBCL NCIT:C4341 Mar MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZL NCIT:C4341 Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MZL NCIT:C4341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia Caudal Dysplasia NCIT:C124505 Caudal Dysplasia caudal dysplasia NCIT:C124505 MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia CAUDAL DYSPLASIA NCIT:C124505 Caudal Dysplasia caudal dysplasia NCIT:C124505 -MONDO:0017607 caudal regression sequence oio:hasExactSynonym Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis Caudal Regression Syndrome NCIT:C99054 MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex NCIT:C84692 Epidermolysis Bullosa Simplex epidermolysis bullosa simplex NCIT:C84692 MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary neoplasm of pituitary Neoplasm of Pituitary NCIT:C3330 Pituitary Gland Neoplasm neoplasm of pituitary NCIT:C3330 MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary gland neoplasm of pituitary gland Neoplasm of Pituitary Gland NCIT:C3330 Pituitary Gland Neoplasm neoplasm of pituitary gland NCIT:C3330 @@ -37929,7 +37387,6 @@ MONDO:0017611 pituitary tumor oio:hasExactSynonym tumor of the pituitary gland MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional epidermolysis bullosa junctional epidermolysis bullosa Junctional Epidermolysis Bullosa NCIT:C90598 Junctional Epidermolysis Bullosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL junctional epidermolysis bullosa NCIT:C90598 MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome PTEN Hamartoma Tumor Syndrome NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL PTEN hamartoma tumor syndrome NCIT:C179915 MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PHTS NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHTS NCIT:C179915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017767 rheumatic fever oio:hasExactSynonym acute rheumatic fever acute rheumatic fever Acute Rheumatic Fever NCIT:C34984 Rheumatic Fever acute rheumatic fever NCIT:C34984 MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym MRKH syndrome MRKH syndrome MRKH Syndrome NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome MRKH syndrome NCIT:C124853 @@ -37950,8 +37407,6 @@ MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neuro MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neurogenic sarcoma neurogenic sarcoma Neurogenic sarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor neurogenic sarcoma NCIT:C3798 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym schwannoma, malignant schwannoma, malignant SCHWANNOMA, MALIGNANT NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor schwannoma, malignant NCIT:C3798 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym MPNST NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPNST NCIT:C3798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor malignant peripheral nerve sheath tumor NCIT:C7814 -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor malignant peripheral nerve sheath tumor NCIT:C8094 MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly cortical hyperostosis with syndactyly Cortical Hyperostosis with Syndactyly NCIT:C131133 Sclerosteosis cortical hyperostosis with syndactyly NCIT:C131133 MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN NCIT:C168588 Senior-Loken Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLSN NCIT:C168588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym bronchopulmonary sequestration bronchopulmonary sequestration Bronchopulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration bronchopulmonary sequestration NCIT:C97124 @@ -37959,19 +37414,17 @@ MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym pulmonary sequestration pulmonary sequestration Pulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration pulmonary sequestration NCIT:C97124 MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym sequestered lobe (pulmonary sequestration) sequestered lobe (pulmonary sequestration) Sequestered Lobe (Pulmonary Sequestration) NCIT:C97124 Bronchopulmonary Sequestration sequestered lobe (pulmonary sequestration) NCIT:C97124 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease NCIT:C3366 Sezary Syndrome Sezary disease NCIT:C3366 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome Sezary syndrome Sezary Syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 +MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome Sezary syndrome NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease Sezary's disease Sezary's Disease NCIT:C3366 Sezary Syndrome Sezary's disease NCIT:C3366 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Sézary syndrome Sézary Syndrome NCIT:C3366 Sezary Syndrome Sézary syndrome NCIT:C3366 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome NCIT:C35300 Sheehan Syndrome Sheehan Syndrome NCIT:C35300 MONDO:0017850 sirenomelia oio:hasExactSynonym symmelia symmelia Symmelia NCIT:C118455 Sirenomelia symmelia NCIT:C118455 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia Variabilis NCIT:C84696 Erythrokeratodermia Variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis NCIT:C84696 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym allergic pneumonitis allergic pneumonitis Allergic Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis allergic pneumonitis NCIT:C34369 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym extrinsic allergic alveolitis extrinsic allergic alveolitis Extrinsic Allergic Alveolitis NCIT:C34369 Extrinsic Allergic Alveolitis extrinsic allergic alveolitis NCIT:C34369 MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym hypersensitivity pneumonitis hypersensitivity pneumonitis Hypersensitivity Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis hypersensitivity pneumonitis NCIT:C34369 -MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 +MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia FAB M6 NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym M6 acute myeloid leukemia M6 acute myeloid leukemia M6 Acute Myeloid Leukemia NCIT:C8923 Acute Erythroid Leukemia M6 acute myeloid leukemia NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroblastic leukemia acute erythroblastic leukemia Acute Erythroblastic Leukemia NCIT:C8923 Acute Erythroid Leukemia acute erythroblastic leukemia NCIT:C8923 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroid leukemia acute erythroid leukemia Acute Erythroid Leukemia NCIT:C8923 Acute Erythroid Leukemia acute erythroid leukemia NCIT:C8923 @@ -37984,8 +37437,8 @@ MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil car MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil renal cell carcinoma chromophil renal cell carcinoma Chromophil Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma chromophil renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary (chromophil) renal cell carcinoma papillary (chromophil) renal cell carcinoma Papillary (Chromophil) Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma papillary (chromophil) renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell cancer papillary renal cell cancer Papillary Renal Cell Cancer NCIT:C6975 Papillary Renal Cell Carcinoma papillary renal cell cancer NCIT:C6975 -MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 +MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL papillary renal cell carcinoma NCIT:C6975 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe Adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe adenocarcinoma NCIT:C4146 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe adenocarcinoma NCIT:C4146 MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe carcinoma chromophobe carcinoma Chromophobe carcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma chromophobe carcinoma NCIT:C4146 @@ -38013,7 +37466,6 @@ MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym 5 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione Synthetase Deficiency NCIT:C128193 Glutathione Synthetase Deficiency glutathione synthetase deficiency NCIT:C128193 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic Aciduria NCIT:C128193 Glutathione Synthetase Deficiency pyroglutamic aciduria NCIT:C128193 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym GSSD NCIT:C128193 Glutathione Synthetase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GSSD NCIT:C128193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC NCIT:C6287 Endometrial Endometrioid Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC NCIT:C6287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex OEIS Complex NCIT:C99142 OEIS Complex OEIS complex NCIT:C99142 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS syndrome OEIS syndrome OEIS Syndrome NCIT:C99142 OEIS Complex OEIS syndrome NCIT:C99142 MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome Canale-Smith syndrome Canale-Smith Syndrome NCIT:C37864 Autoimmune Lymphoproliferative Syndrome Canale-Smith syndrome NCIT:C37864 @@ -38029,7 +37481,6 @@ MONDO:0018017 goblet cell carcinoma oio:hasExactSynonym appendix mixed carcinoi MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym fetal thalidomide syndrome fetal thalidomide syndrome Fetal Thalidomide Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome fetal thalidomide syndrome NCIT:C99082 MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide embryopathy syndrome thalidomide embryopathy syndrome Thalidomide Embryopathy Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome thalidomide embryopathy syndrome NCIT:C99082 MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide-induced birth defect thalidomide-induced birth defect Thalidomide-Induced Birth Defect NCIT:C99082 Thalidomide Embryopathy Syndrome thalidomide-induced birth defect NCIT:C99082 -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency hyper-IgE recurrent infection syndrome NCIT:C126342 MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome hyperimmunoglobulin E syndrome Hyperimmunoglobulin E Syndrome NCIT:C3144 Hyperimmunoglobulin E Syndrome hyperimmunoglobulin E syndrome NCIT:C3144 MONDO:0018044 idiopathic hypersomnia oio:hasExactSynonym primary hypersomnia primary hypersomnia Primary Hypersomnia NCIT:C116343 Idiopathic Hypersomnia primary hypersomnia NCIT:C116343 MONDO:0018053 trichothiodystrophy oio:hasExactSynonym trichothiodystrophy syndrome trichothiodystrophy syndrome Trichothiodystrophy Syndrome NCIT:C4924 Trichothiodystrophy trichothiodystrophy syndrome NCIT:C4924 @@ -38052,8 +37503,8 @@ MONDO:0018075 neural tube defect oio:hasExactSynonym NTD NCIT:C84923 Neural T MONDO:0018076 tuberculosis oio:hasExactSynonym tuberculosis disease tuberculosis disease Tuberculosis Disease NCIT:C3423 Tuberculosis tuberculosis disease NCIT:C3423 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of soft tissue sarcoma of soft tissue Sarcoma of Soft Tissue NCIT:C9306 Soft Tissue Sarcoma sarcoma of soft tissue NCIT:C9306 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of the soft tissue sarcoma of the soft tissue Sarcoma of the Soft Tissue NCIT:C9306 Soft Tissue Sarcoma sarcoma of the soft tissue NCIT:C9306 -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft tissue sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 +MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma soft tissue sarcoma NCIT:C9306 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial neoplasm Thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm Thymus epithelial neoplasm NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial tumor Thymus epithelial tumor Thymus Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm Thymus epithelial tumor NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial neoplasm of Thymus epithelial neoplasm of Thymus Epithelial Neoplasm of Thymus NCIT:C6450 Thymic Epithelial Neoplasm epithelial neoplasm of Thymus NCIT:C6450 @@ -38063,10 +37514,9 @@ MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial tumor o MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelial tumor thymic epithelial tumor Thymic Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm thymic epithelial tumor NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelium neoplasm thymic epithelium neoplasm Thymic Epithelium Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm thymic epithelium neoplasm NCIT:C6450 MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymus epithelial neoplasm thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm thymus epithelial neoplasm NCIT:C6450 -MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym TEN NCIT:C79777 Toxic Epidermal Necrolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TEN NCIT:C79777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF NCIT:C84707 Familial Mediterranean Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMF NCIT:C84707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle Double Outlet Right Ventricle NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 +MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle double outlet right ventricle NCIT:C98916 MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym uveomeningoencephalitic syndrome uveomeningoencephalitic syndrome Uveomeningoencephalitic Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome uveomeningoencephalitic syndrome NCIT:C85218 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg's syndrome Waardenburg's syndrome Waardenburg's Syndrome NCIT:C85222 Waardenburg Syndrome Waardenburg's syndrome NCIT:C85222 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome Waardenburg syndrome Waardenburg Syndrome NCIT:C85222 Waardenburg Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome NCIT:C85222 @@ -38104,10 +37554,9 @@ MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme glioblas MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma multiforme NCIT:C3058 Glioblastoma spongioblastoma multiforme NCIT:C3058 MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma Multiforme NCIT:C3058 Glioblastoma spongioblastoma multiforme NCIT:C3058 MONDO:0018177 glioblastoma oio:hasExactSynonym GBM NCIT:C3058 Glioblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GBM NCIT:C3058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma glioblastoma NCIT:C9094 MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal Scalded Skin Syndrome NCIT:C85077 Staphylococcal Scalded Skin Syndrome staphylococcal scalded skin syndrome NCIT:C85077 -MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis Plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 +MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica linitis plastica NCIT:C3190 MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of testis teratoma of testis Teratoma of Testis NCIT:C3877 Testicular Teratoma teratoma of testis NCIT:C3877 MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of the testis teratoma of the testis Teratoma of the Testis NCIT:C3877 Testicular Teratoma teratoma of the testis NCIT:C3877 MONDO:0018193 testicular teratoma oio:hasExactSynonym testicular teratoma testicular teratoma Testicular Teratoma NCIT:C3877 Testicular Teratoma testicular teratoma NCIT:C3877 @@ -38135,7 +37584,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym diffuse la MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-DLBCL NCIT:C7225 ALK-Positive Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ALK-DLBCL NCIT:C7225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym Stevens Johnson syndrome Stevens Johnson syndrome Stevens Johnson Syndrome NCIT:C79484 Stevens-Johnson Syndrome Stevens Johnson syndrome NCIT:C79484 MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis dysostosis Dysostosis NCIT:C34560 Dysostosis dysostosis NCIT:C34560 -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym EOE EOE EoE NCIT:C27105 Eosinophilic Esophagitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOE NCIT:C27105 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym Extra-osseous Ewing's sarcoma Extra-osseous Ewing's sarcoma Extra-Osseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma Extra-osseous Ewing's sarcoma NCIT:C7135 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma extraosseous Ewing sarcoma Extraosseous Ewing Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma extraosseous Ewing sarcoma NCIT:C7135 MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma Extraosseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma extraosseous Ewing's sarcoma NCIT:C7135 @@ -38163,8 +37611,6 @@ MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym mesenchymal hamar MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease Hirschsprung Disease NCIT:C34700 Hirschsprung Disease Hirschsprung disease NCIT:C34700 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung's disease Hirschsprung's disease Hirschsprung's Disease NCIT:C34700 Hirschsprung Disease Hirschsprung's disease NCIT:C34700 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic Megacolon NCIT:C34700 Hirschsprung Disease aganglionic megacolon NCIT:C34700 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C114483 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C114929 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell granulomatosis NCIT:C3107 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Langerhans cell granulomatosis Langerhans Cell Granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell granulomatosis NCIT:C3107 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis Langerhans cell histiocytosis NCIT:C3107 @@ -38187,7 +37633,6 @@ MONDO:0018352 squamous cell carcinoma of penis oio:hasExactSynonym squamous cel MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian epithelial tumor malignant ovarian epithelial tumor Malignant Ovarian Epithelial Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian epithelial tumor NCIT:C40026 MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal neoplasm Malignant Ovarian Surface Epithelial-Stromal Neoplasm NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian surface epithelial-stromal neoplasm NCIT:C40026 MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal tumor malignant ovarian surface epithelial-stromal tumor Malignant Ovarian Surface Epithelial-Stromal Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor malignant ovarian surface epithelial-stromal tumor NCIT:C40026 -MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma ovarian epithelial cancer NCIT:C4908 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary peritoneal serous papillary adenocarcinoma NCIT:C7695 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary carcinoma primary peritoneal serous papillary carcinoma Primary Peritoneal Serous Papillary Carcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary peritoneal serous papillary carcinoma NCIT:C7695 MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary Serous Papillary Carcinoma of Peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma primary serous papillary carcinoma of peritoneum NCIT:C7695 @@ -38206,10 +37651,8 @@ MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym osteonecrosis of jaw MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym ONJ NCIT:C63924 Osteonecrosis of Jaw http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONJ NCIT:C63924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma NCIT:C3830 Chondromyxoid Fibroma Chondromyxoid fibroma NCIT:C3830 MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma Chondromyxoid fibroma Chondromyxoid Fibroma NCIT:C3830 Chondromyxoid Fibroma Chondromyxoid fibroma NCIT:C3830 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym FAMM syndrome FAMM syndrome FAMM Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome FAMM syndrome NCIT:C27264 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical mole melanoma syndrome familial atypical mole melanoma syndrome Familial Atypical Mole Melanoma Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome familial atypical mole melanoma syndrome NCIT:C27264 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym B-K mole syndrome B-K mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome B-K mole syndrome NCIT:C7584 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia familial benign hypercalcemia Familial Benign Hypercalcemia NCIT:C123262 Familial Hypocalciuric Hypercalcemia familial benign hypercalcemia NCIT:C123262 MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis renal agenesis Renal Agenesis NCIT:C99041 Renal Agenesis renal agenesis NCIT:C99041 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin Encephalopathy NCIT:C84799 Kernicterus bilirubin encephalopathy NCIT:C84799 @@ -38259,7 +37702,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym pancreatic mu MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma pancreatic solid pseudopapillary carcinoma Pancreatic Solid Pseudopapillary Carcinoma NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas pancreatic solid pseudopapillary carcinoma NCIT:C5728 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of pancreas solid pseudopapillary carcinoma of pancreas Solid Pseudopapillary Carcinoma of Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas solid pseudopapillary carcinoma of pancreas NCIT:C5728 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of the pancreas solid pseudopapillary carcinoma of the pancreas Solid Pseudopapillary Carcinoma of the Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas solid pseudopapillary carcinoma of the pancreas NCIT:C5728 -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma liver and intrahepatic biliary tract carcinoma NCIT:C3828 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma liver and intrahepatic bile duct carcinoma NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract cancer liver and intrahepatic biliary tract cancer Liver and Intrahepatic Biliary Tract Cancer NCIT:C7927 Liver Carcinoma liver and intrahepatic biliary tract cancer NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma liver and intrahepatic biliary tract carcinoma NCIT:C7927 @@ -38271,7 +37713,6 @@ MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym central hypogonadism central hypogonadism Central Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism central hypogonadism NCIT:C113347 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism NCIT:C113347 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym secondary hypogonadism secondary hypogonadism Secondary Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism secondary hypogonadism NCIT:C113347 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome hypogonadotropic hypogonadism NCIT:C34752 MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert Eaton myasthenic syndrome Lambert Eaton myasthenic syndrome Lambert Eaton Myasthenic Syndrome NCIT:C3155 Lambert Eaton Myasthenic Syndrome Lambert Eaton myasthenic syndrome NCIT:C3155 MONDO:0018592 cutaneous polyarteritis nodosa oio:hasExactSynonym cutaneous PAN cutaneous PAN Cutaneous PAN NCIT:C117295 Cutaneous Polyarteritis Nodosa cutaneous PAN NCIT:C117295 MONDO:0018604 familial colorectal cancer type X oio:hasExactSynonym familial colorectal cancer type X familial colorectal cancer type X Familial Colorectal Cancer Type X NCIT:C120084 Hereditary Colorectal Cancer Type X familial colorectal cancer type X NCIT:C120084 @@ -38301,15 +37742,14 @@ MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym Kutt MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym chronic sclerosing sialadenitis chronic sclerosing sialadenitis Chronic Sclerosing Sialadenitis NCIT:C82887 Chronic Sclerosing Sialadenitis chronic sclerosing sialadenitis NCIT:C82887 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia syndrome heterotaxia syndrome Heterotaxia Syndrome NCIT:C117273 Heterotaxy Syndrome heterotaxia syndrome NCIT:C117273 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy syndrome heterotaxy syndrome Heterotaxy Syndrome NCIT:C117273 Heterotaxy Syndrome heterotaxy syndrome NCIT:C117273 -MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus situs ambiguus Situs Ambiguus NCIT:C87121 Situs Inversus situs ambiguus NCIT:C87121 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphadenosis Benigna cutis lymphadenosis Benigna cutis Lymphadenosis Benigna Cutis NCIT:C62776 Cutaneous Pseudolymphoma lymphadenosis Benigna cutis NCIT:C62776 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphocytoma cutis lymphocytoma cutis Lymphocytoma Cutis NCIT:C62776 Cutaneous Pseudolymphoma lymphocytoma cutis NCIT:C62776 MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym pseudolymphoma of Spiegler pseudolymphoma of Spiegler Pseudolymphoma of Spiegler NCIT:C62776 Cutaneous Pseudolymphoma pseudolymphoma of Spiegler NCIT:C62776 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired Ichthyosis NCIT:C112831 Ichthyosis Acquisita acquired ichthyosis NCIT:C112831 MONDO:0018683 acquired ichthyosis oio:hasExactSynonym ichthyosis acquisita ichthyosis acquisita Ichthyosis Acquisita NCIT:C112831 Ichthyosis Acquisita ichthyosis acquisita NCIT:C112831 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym leukemia plasmacytic leukemia plasmacytic Leukemia Plasmacytic NCIT:C3180 Plasma Cell Leukemia leukemia plasmacytic NCIT:C3180 -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma cell leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 +MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia plasma cell leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic Leukemia NCIT:C3180 Plasma Cell Leukemia plasmacytic leukemia NCIT:C3180 MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic leukemia NCIT:C3180 Plasma Cell Leukemia plasmacytic leukemia NCIT:C3180 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome NCIT:C34357 Holmes-Adie Syndrome Adie Syndrome NCIT:C34357 @@ -38322,8 +37762,8 @@ MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym tracheoes MONDO:0018712 composite hemangioendothelioma oio:hasExactSynonym composite hemangioendothelioma composite hemangioendothelioma Composite Hemangioendothelioma NCIT:C45475 Composite Hemangioendothelioma composite hemangioendothelioma NCIT:C45475 MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym hobnail hemangioendothelioma hobnail hemangioendothelioma Hobnail Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma hobnail hemangioendothelioma NCIT:C27511 MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym retiform hemangioendothelioma retiform hemangioendothelioma Retiform Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma retiform hemangioendothelioma NCIT:C27511 -MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 +MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma Dabska tumor NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym malignant endothelial papillary angioendothelioma malignant endothelial papillary angioendothelioma Malignant Endothelial Papillary Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma malignant endothelial papillary angioendothelioma NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary Endovascular angioendothelioma papillary Endovascular angioendothelioma Papillary Endovascular Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma papillary Endovascular angioendothelioma NCIT:C7526 MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary intralymphatic angioendothelioma papillary intralymphatic angioendothelioma Papillary Intralymphatic Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma papillary intralymphatic angioendothelioma NCIT:C7526 @@ -38359,10 +37799,9 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly NCIT:C103921 Lissencephaly lissencephaly NCIT:C103921 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis Congenital Hepatic Fibrosis NCIT:C97071 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym congenital hepatic fibrosis congenital hepatic fibrosis Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis congenital hepatic fibrosis NCIT:C97071 -MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary effusion lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 +MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma primary Effusion Lymphoma NCIT:C6915 MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym PEL NCIT:C6915 Primary Effusion Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PEL NCIT:C6915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma central nervous system embryonal carcinoma NCIT:C5790 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma central nervous system embryonal carcinoma NCIT:C7010 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal Carcinoma of CNS NCIT:C7010 Central Nervous System Embryonal Carcinoma embryonal carcinoma of CNS NCIT:C7010 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of the central nervous system embryonal carcinoma of the central nervous system Embryonal Carcinoma of the Central Nervous System NCIT:C7010 Central Nervous System Embryonal Carcinoma embryonal carcinoma of the central nervous system NCIT:C7010 @@ -38373,17 +37812,17 @@ MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym Retrope MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym retroperitoneal fibrosis retroperitoneal fibrosis Retroperitoneal Fibrosis NCIT:C26876 Retroperitoneal Fibrosis retroperitoneal fibrosis NCIT:C26876 MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta dentinogenesis imperfecta Dentinogenesis Imperfecta NCIT:C84667 Dentinogenesis Imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dentinogenesis imperfecta NCIT:C84667 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar cyst Pilar cyst Pilar Cyst NCIT:C27125 Proliferating Trichilemmal Tumor Pilar cyst NCIT:C27125 -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor Pilar tumor Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Pilar tumor proliferating Pilar tumor Proliferating Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating Pilar tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Tricholemmal tumor proliferating Tricholemmal tumor Proliferating Tricholemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating Tricholemmal tumor NCIT:C27125 -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating trichilemmal tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor proliferating trichilemmal tumor NCIT:C27125 MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia achromatopsia Achromatopsia NCIT:C84528 Achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL achromatopsia NCIT:C84528 MONDO:0018864 Kikuchi-Fujimoto disease oio:hasExactSynonym histiocytic necrotizing lymphadenitis histiocytic necrotizing lymphadenitis Histiocytic Necrotizing Lymphadenitis NCIT:C71719 Kikuchi-Fujimoto Disease histiocytic necrotizing lymphadenitis NCIT:C71719 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute M4 myeloid leukemia acute M4 myeloid leukemia Acute M4 Myeloid Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute M4 myeloid leukemia NCIT:C7463 -MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 +MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia (FAB type M4) acute myelomonocytic leukemia (FAB type M4) Acute Myelomonocytic Leukemia (FAB Type M4) NCIT:C7463 Acute Myelomonocytic Leukemia acute myelomonocytic leukemia (FAB type M4) NCIT:C7463 MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym AMML NCIT:C7463 Acute Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMML NCIT:C7463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym FAB M7 FAB M7 Fab M7 NCIT:C3170 Acute Megakaryoblastic Leukemia FAB M7 NCIT:C3170 @@ -38401,10 +37840,10 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leu MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leukemia acute granulocytic leukemia Acute Granulocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute granulocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute myeloblastic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myeloblastic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute Myeloblastic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myeloblastic leukemia NCIT:C3171 -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute Myelocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelocytic leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute myelogenous leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemias acute myelogenous leukemias Acute Myelogenous Leukemias NCIT:C3171 Acute Myeloid Leukemia acute myelogenous leukemias NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C3171 @@ -38413,7 +37852,6 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym hematopoeitic - acute MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acute myeloid leukemia NCIT:C3171 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AML NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym ANLL NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ANLL NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia acute myeloid leukemia (AML) NCIT:C9160 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni Familial Cancer Susceptibility Syndrome NCIT:C3476 Li-Fraumeni Syndrome Li-Fraumeni familial cancer susceptibility syndrome NCIT:C3476 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome NCIT:C3476 Li-Fraumeni Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome NCIT:C3476 MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym classical mantle cell lymphoma classical mantle cell lymphoma Classical Mantle Cell Lymphoma NCIT:C4337 Mantle Cell Lymphoma classical mantle cell lymphoma NCIT:C4337 @@ -38432,7 +37870,6 @@ MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym oligoblastic leukemi MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym preleukemia preleukemia Preleukemia NCIT:C3247 Myelodysplastic Syndrome preleukemia NCIT:C3247 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym smoldering leukemia smoldering leukemia Smoldering Leukemia NCIT:C3247 Myelodysplastic Syndrome smoldering leukemia NCIT:C3247 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS NCIT:C3247 Myelodysplastic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS NCIT:C3247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome myelodysplastic syndrome NCIT:C68744 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli Seip syndrome Berardinelli Seip syndrome Berardinelli Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Berardinelli Seip syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli lipodystrophy syndrome Berardinelli lipodystrophy syndrome Berardinelli Lipodystrophy Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Berardinelli lipodystrophy syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Seip-Bernardinelli syndrome Seip-Bernardinelli syndrome Seip-Bernardinelli Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Seip-Bernardinelli syndrome NCIT:C84594 @@ -38479,20 +37916,16 @@ MONDO:0018908 non-Hodgkin lymphoma oio:hasExactSynonym NHL NCIT:C3211 Non-Hod MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young maturity onset diabetes of the young NCIT:C114769 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maturity-onset diabetes of the young NCIT:C114769 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY NCIT:C114769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C129739 Monogenic Diabetes maturity onset diabetes of the young NCIT:C129739 -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C129739 Monogenic Diabetes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY NCIT:C129739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome Cushing syndrome Cushing Syndrome NCIT:C2969 Cushing Syndrome Cushing syndrome NCIT:C2969 MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing's syndrome Cushing's syndrome Cushing's Syndrome NCIT:C2969 Cushing Syndrome Cushing's syndrome NCIT:C2969 MONDO:0018912 Cushing syndrome oio:hasExactSynonym cortisol Excess cortisol Excess Cortisol Excess NCIT:C2969 Cushing Syndrome cortisol Excess NCIT:C2969 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome McCune Albright Syndrome NCIT:C48627 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright syndrome McCune Albright syndrome McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome McCune Albright syndrome NCIT:C48627 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym peripartum cardiomyopathy peripartum cardiomyopathy Peripartum Cardiomyopathy NCIT:C171602 Peripartum Cardiomyopathy peripartum cardiomyopathy NCIT:C171602 MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome NCIT:C98978 Meckel-Gruber Syndrome Meckel-Gruber syndrome NCIT:C98978 -MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy Cell Leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 +MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia hairy cell leukemia NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia leukemic reticuloendotheliosis NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic Reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia leukemic reticuloendotheliosis NCIT:C7402 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym HCL NCIT:C7402 Hairy Cell Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCL NCIT:C7402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -38525,8 +37958,8 @@ MONDO:0018963 hereditary methemoglobinemia oio:hasExactSynonym congenital methe MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport's syndrome Alport's syndrome Alport's Syndrome NCIT:C34842 Alport Syndrome Alport's syndrome NCIT:C34842 MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome Alport syndrome Alport Syndrome NCIT:C34842 Alport Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alport syndrome NCIT:C34842 MONDO:0018969 craniorachischisis oio:hasExactSynonym cranial rachischisis cranial rachischisis Cranial Rachischisis NCIT:C98907 Craniorachischisis cranial rachischisis NCIT:C98907 -MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis CRANIORACHISCHISIS NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 +MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis craniorachischisis NCIT:C98907 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 Neurofibromatosis 1 NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis 1 neurofibromatosis 1 Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 neurofibromatosis 1 NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym peripheral neurofibromatosis peripheral neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 peripheral neurofibromatosis NCIT:C3273 @@ -38548,8 +37981,6 @@ MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic cerebella MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma dysplastic gangliocytoma of cerebellum NCIT:C8419 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic Gangliocytoma of the Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma dysplastic gangliocytoma of the cerebellum NCIT:C8419 MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple Endocrine Neoplasia Type 2 NCIT:C123329 Multiple Endocrine Neoplasia Type 2 multiple endocrine neoplasia type 2 NCIT:C123329 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' Tumor NCIT:C3267 Wilms Tumor Wilms' Tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym nephroblastoma nephroblastoma Nephroblastoma NCIT:C3267 Wilms Tumor nephroblastoma NCIT:C3267 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms tumor of the kidney Wilms tumor of the kidney Wilms Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor Wilms tumor of the kidney NCIT:C40407 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' tumor of the kidney Wilms' tumor of the kidney Wilms' Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor Wilms' tumor of the kidney NCIT:C40407 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor kidney Wilms tumor NCIT:C40407 @@ -38560,28 +37991,26 @@ MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym renal Wilms' tumor renal W MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis NCIT:C123200 Nephronophthisis nephronophthisis NCIT:C123200 MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy persistent hyperinsulinemic hypoglycemia of infancy Persistent Hyperinsulinemic Hypoglycemia of Infancy NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy persistent hyperinsulinemic hypoglycemia of infancy NCIT:C122923 MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym PHHI NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHHI NCIT:C122923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter 's syndrome Carpenter 's syndrome Carpenter 's Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly Carpenter 's syndrome NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome Carpenter Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly Carpenter syndrome NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type II acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II NCIT:C98873 Type II Acrocephalopolysyndactyly acrocephalopolysyndactyly type II NCIT:C98873 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly NCIT:C98873 Type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly NCIT:C98873 MONDO:0019015 omphalocele oio:hasExactSynonym congenital omphalocele congenital omphalocele Congenital Omphalocele NCIT:C98997 Omphalocele congenital omphalocele NCIT:C98997 MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos NCIT:C98997 Omphalocele exomphalos NCIT:C98997 -MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele omphalocele NCIT:C98997 MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele Omphalocele NCIT:C98997 Omphalocele omphalocele NCIT:C98997 +MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele omphalocele NCIT:C98997 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo cardiomyopathy Takotsubo cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo cardiomyopathy NCIT:C85181 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo syndrome Takotsubo syndrome Takotsubo Syndrome NCIT:C85181 Takotsubo Cardiomyopathy Takotsubo syndrome NCIT:C85181 -MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous (skin) mastocytosis cutaneous (skin) mastocytosis Cutaneous (Skin) Mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous (skin) mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous Mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous mastocytosis NCIT:C7137 Cutaneous Mastocytosis cutaneous mastocytosis NCIT:C7137 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast Cell Sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 +MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma mast cell sarcoma NCIT:C9348 MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS NCIT:C9348 Mast Cell Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCS NCIT:C9348 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 +MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma extracutaneous mastocytoma NCIT:C7136 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive osteopetrosis autosomal recessive osteopetrosis Autosomal Recessive Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis autosomal recessive osteopetrosis NCIT:C129733 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski Syndrome NCIT:C85028 Progressive Supranuclear Palsy Steele-Richardson-Olszewski syndrome NCIT:C85028 MONDO:0019040 chromosomal disorder oio:hasExactSynonym chromosome disorder chromosome disorder Chromosome Disorder NCIT:C34470 Chromosome Disorder chromosome disorder NCIT:C34470 @@ -38593,8 +38022,6 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym inborn errors of MONDO:0019053 peroxisomal disease oio:hasExactSynonym disorder of peroxisomal function disorder of peroxisomal function Disorder of Peroxisomal Function NCIT:C85005 Peroxisomal Disorder disorder of peroxisomal function NCIT:C85005 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disorder peroxisomal disorder Peroxisomal Disorder NCIT:C85005 Peroxisomal Disorder peroxisomal disorder NCIT:C85005 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal function disorder peroxisomal function disorder Peroxisomal Function Disorder NCIT:C85005 Peroxisomal Disorder peroxisomal function disorder NCIT:C85005 -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm osseous neoplasm NCIT:C6603 -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm osseous tumor NCIT:C6603 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm bone neoplasm NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasms bone neoplasms Bone Neoplasms NCIT:C9343 Bone Neoplasm bone neoplasms NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm bone tumor NCIT:C9343 @@ -38605,7 +38032,6 @@ MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neopla MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm osseous tumor NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of bone tumor of bone Tumor of Bone NCIT:C9343 Bone Neoplasm tumor of bone NCIT:C9343 MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of the bone tumor of the bone Tumor of the Bone NCIT:C9343 Bone Neoplasm tumor of the bone NCIT:C9343 -MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym HSP NCIT:C34963 Henoch-Schönlein Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSP NCIT:C34963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019065 amyloidosis oio:hasExactSynonym amyloidosis amyloidosis Amyloidosis NCIT:C2868 Amyloidosis amyloidosis NCIT:C2868 MONDO:0019077 warty dyskeratoma oio:hasExactSynonym follicular dyskeratoma follicular dyskeratoma Follicular Dyskeratoma NCIT:C4087 Warty Dyskeratoma follicular dyskeratoma NCIT:C4087 MONDO:0019077 warty dyskeratoma oio:hasExactSynonym isolated follicular keratosis isolated follicular keratosis Isolated Follicular Keratosis NCIT:C4087 Warty Dyskeratoma isolated follicular keratosis NCIT:C4087 @@ -38615,7 +38041,6 @@ MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of the esophagus carcinoma of the esophagus Carcinoma of the Esophagus NCIT:C3513 Esophageal Carcinoma carcinoma of the esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma esophageal carcinoma Esophageal Carcinoma NCIT:C3513 Esophageal Carcinoma esophageal carcinoma NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophagus carcinoma esophagus carcinoma Esophagus Carcinoma NCIT:C3513 Esophageal Carcinoma esophagus carcinoma NCIT:C3513 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA NCIT:C129865 Congenital Contractural Arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA NCIT:C129865 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym Cholangiocellular carcinoma Cholangiocellular carcinoma Cholangiocellular Carcinoma NCIT:C4436 Cholangiocarcinoma Cholangiocellular carcinoma NCIT:C4436 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma NCIT:C4436 Cholangiocarcinoma cholangiocarcinoma NCIT:C4436 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma, malignant cholangiocarcinoma, malignant CHOLANGIOCARCINOMA, MALIGNANT NCIT:C4436 Cholangiocarcinoma cholangiocarcinoma, malignant NCIT:C4436 @@ -38635,7 +38060,6 @@ MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis jirovecii pneumon MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis pneumonia Pneumocystis pneumonia Pneumocystis Pneumonia NCIT:C3334 Pneumocystis Pneumonia Pneumocystis pneumonia NCIT:C3334 MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019121 pneumocystosis oio:hasExactSynonym PJP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PJP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C4725 Papillary Craniopharyngioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCP NCIT:C4725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler syndrome Loffler syndrome Loffler Syndrome NCIT:C35301 Loffler Syndrome Loffler syndrome NCIT:C35301 MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler's syndrome Loffler's syndrome Loffler's Syndrome NCIT:C35301 Loffler Syndrome Loffler's syndrome NCIT:C35301 MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Löffler syndrome Löffler syndrome Löffler Syndrome NCIT:C35301 Loffler Syndrome Löffler syndrome NCIT:C35301 @@ -38683,7 +38107,6 @@ MONDO:0019187 Axenfeld-Rieger syndrome oio:hasExactSynonym Rieger syndrome Rieg MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome NCIT:C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome NCIT:C75466 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis oio:hasExactSynonym Mikulicz disease Mikulicz disease Mikulicz Disease NCIT:C34819 Mikulicz Disease Mikulicz disease NCIT:C34819 MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym acquired generalized lipodystrophy acquired generalized lipodystrophy Acquired Generalized Lipodystrophy NCIT:C131089 Acquired Generalized Lipodystrophy acquired generalized lipodystrophy NCIT:C131089 -MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy Lawrence-Seip syndrome NCIT:C84594 MONDO:0019194 localized lipodystrophy oio:hasExactSynonym focal lipodystrophy focal lipodystrophy Focal Lipodystrophy NCIT:C131814 Focal Lipodystrophy focal lipodystrophy NCIT:C131814 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis Pigmentosa NCIT:C85045 Retinitis Pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa NCIT:C85045 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma NCIT:C6496 Myxofibrosarcoma fibromyxosarcoma NCIT:C6496 @@ -38718,8 +38141,8 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticari MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa/maculopapular cutaneous mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis NCIT:C3433 MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION UP/MPCM NCIT:C3433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019319 verrucous nevus oio:hasExactSynonym verrucous Epidermal Nevus verrucous Epidermal Nevus Verrucous Epidermal Nevus NCIT:C4674 Verrucous Nevus verrucous Epidermal Nevus NCIT:C4674 -MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous Lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 +MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma cavernous lymphangioma NCIT:C53316 MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner syndrome Gardner syndrome Gardner Syndrome NCIT:C6728 Gardner Syndrome Gardner syndrome NCIT:C6728 MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner's syndrome Gardner's syndrome Gardner's Syndrome NCIT:C6728 Gardner Syndrome Gardner's syndrome NCIT:C6728 MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoid sarcoid Sarcoid NCIT:C34995 Sarcoidosis sarcoid NCIT:C34995 @@ -38744,13 +38167,13 @@ MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus e MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus fever epidemic typhus fever Epidemic Typhus Fever NCIT:C84689 Epidemic Louse-Borne Typhus epidemic typhus fever NCIT:C84689 MONDO:0019372 solitary bone cyst oio:hasExactSynonym simple bone cyst simple bone cyst Simple Bone Cyst NCIT:C2904 Simple Bone Cyst simple bone cyst NCIT:C2904 MONDO:0019372 solitary bone cyst oio:hasExactSynonym unicameral bone cyst unicameral bone cyst Unicameral Bone Cyst NCIT:C2904 Simple Bone Cyst unicameral bone cyst NCIT:C2904 -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor Desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell neoplasm Desmoplastic small round-cell neoplasm Desmoplastic Small Round-Cell Neoplasm NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round-cell neoplasm NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell tumor Desmoplastic small round-cell tumor Desmoplastic Small Round-Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Desmoplastic small round-cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Polyphenotypic small round cell tumor Polyphenotypic small round cell tumor Polyphenotypic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor Polyphenotypic small round cell tumor NCIT:C8300 -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor desmoplastic small round cell tumor NCIT:C8300 MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym DSRCT NCIT:C8300 Desmoplastic Small Round Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSRCT NCIT:C8300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019380 western equine encephalitis oio:hasExactSynonym Western equine encephalomyelitis Western equine encephalomyelitis Western Equine Encephalomyelitis NCIT:C85227 Western Equine Encephalomyelitis Western equine encephalomyelitis NCIT:C85227 MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym acute disseminated encephalomyelitis acute disseminated encephalomyelitis Acute Disseminated Encephalomyelitis NCIT:C34578 Acute Disseminated Encephalomyelitis acute disseminated encephalomyelitis NCIT:C34578 @@ -38764,8 +38187,8 @@ MONDO:0019391 Fanconi anemia oio:hasExactSynonym primary erythroid hypoplasia p MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia Fanconi Anemia NCIT:C62505 Fanconi Anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia NCIT:C62505 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum Syringadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary Syringadenoma papillary Syringadenoma Papillary Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary Syringadenoma NCIT:C4172 -MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary Syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 +MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum papillary syringocystadenoma NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma papilliferum NCIT:C4172 Syringocystadenoma Papilliferum syringocystadenoma papilliferum NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma Papilliferum NCIT:C4172 Syringocystadenoma Papilliferum syringocystadenoma papilliferum NCIT:C4172 MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym SCAP NCIT:C4172 Syringocystadenoma Papilliferum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAP NCIT:C4172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -38785,8 +38208,8 @@ MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynon MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym ERA era ERA NCIT:C119024 Enthesitis-Related Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERA NCIT:C119024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary Amyloidosis NCIT:C3818 Secondary Amyloidosis secondary amyloidosis NCIT:C3818 MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis NCIT:C85199 Trichinosis trichinosis NCIT:C85199 -MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic neutrophilic leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 +MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia chronic neutrophilic leukemia NCIT:C3179 MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym neutrophilic leukemia neutrophilic leukemia Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia neutrophilic leukemia NCIT:C3179 MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified CMPD, U NCIT:C27350 MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym MPN, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified MPN, U NCIT:C27350 @@ -38802,8 +38225,8 @@ MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactS MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym MDS-MLD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-MLD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym RCMD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCMD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym myelodysplastic syndrome with Excess blasts myelodysplastic syndrome with Excess blasts Myelodysplastic Syndrome with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts myelodysplastic syndrome with Excess blasts NCIT:C7506 -MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory anemia with excess blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 +MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with Excess blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with an Excess of blasts refractory Anemia with an Excess of blasts Refractory Anemia with an Excess of Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts refractory Anemia with an Excess of blasts NCIT:C7506 MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym MDS-EB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS-EB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym RAEB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAEB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -38832,8 +38255,8 @@ MONDO:0019461 B-cell prolymphocytic leukemia oio:hasExactSynonym B-cell prolymp MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of spleen marginal zone lymphoma of spleen Marginal Zone Lymphoma of Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma marginal zone lymphoma of spleen NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of the spleen marginal zone lymphoma of the spleen Marginal Zone Lymphoma of the Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma marginal zone lymphoma of the spleen NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic lymphoma with circulating villous lymphocytes splenic lymphoma with circulating villous lymphocytes Splenic Lymphoma with Circulating Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic lymphoma with circulating villous lymphocytes NCIT:C4663 -MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic Marginal Zone B-Cell Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 +MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma with villous lymphocytes splenic marginal zone B-cell lymphoma with villous lymphocytes Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone B-cell lymphoma with villous lymphocytes NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma splenic marginal zone lymphoma Splenic Marginal Zone Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone lymphoma NCIT:C4663 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma with villous lymphocytes splenic marginal zone lymphoma with villous lymphocytes Splenic Marginal Zone Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma splenic marginal zone lymphoma with villous lymphocytes NCIT:C4663 @@ -38841,11 +38264,11 @@ MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SLVL NCIT:C4 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SMZL NCIT:C4663 Splenic Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMZL NCIT:C4663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019464 heavy chain disease oio:hasExactSynonym heavy chain disease heavy chain disease Heavy Chain Disease NCIT:C3082 Heavy Chain Disease heavy chain disease NCIT:C3082 MONDO:0019464 heavy chain disease oio:hasExactSynonym HCD NCIT:C3082 Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HCD NCIT:C3082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma Monocytoid B-cell lymphoma Monocytoid B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma Monocytoid B-cell lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone B-cell lymphoma nodal marginal zone B-cell lymphoma Nodal Marginal Zone B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone B-cell lymphoma NCIT:C8863 -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal Marginal Zone Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma nodal marginal zone lymphoma NCIT:C8863 MONDO:0019466 lymphomatoid granulomatosis oio:hasExactSynonym LYG NCIT:C7930 Lymphomatoid Granulomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LYG NCIT:C7930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ Hematodermic Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm CD4+/CD56+ hematodermic neoplasm NCIT:C7203 MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym agranular CD4+ CD56+ hematodermic neoplasm/tumor agranular CD4+ CD56+ hematodermic neoplasm/tumor Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm agranular CD4+ CD56+ hematodermic neoplasm/tumor NCIT:C7203 @@ -38863,8 +38286,8 @@ MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T prolymphocyt MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T-cell prolymphocytic leukemia T-cell prolymphocytic leukemia T-Cell Prolymphocytic Leukemia NCIT:C4752 T-Cell Prolymphocytic Leukemia T-cell prolymphocytic leukemia NCIT:C4752 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T gamma lymphoproliferative disorder T gamma lymphoproliferative disorder T Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T gamma lymphoproliferative disorder NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia T-Cell Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocyte leukemia NCIT:C4664 -MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 +MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-cell large granular lymphocytic leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-gamma lymphoproliferative disorder T-gamma lymphoproliferative disorder T-Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia T-gamma lymphoproliferative disorder NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym Tgamma large granular lymphocyte leukemia Tgamma large granular lymphocyte leukemia Tgamma Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia Tgamma large granular lymphocyte leukemia NCIT:C4664 MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym large cell granular lymphogenous leukemia large cell granular lymphogenous leukemia Large Cell Granular Lymphogenous Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia large cell granular lymphogenous leukemia NCIT:C4664 @@ -38881,14 +38304,14 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukemia natural killer cell leukemia Natural Killer Cell Leukemia NCIT:C8647 Aggressive NK-Cell Leukemia natural killer cell leukemia NCIT:C8647 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma adult T-cell leukemia/lymphoma NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL NCIT:C3184 Adult T-Cell Leukemia/Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLL NCIT:C3184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-Cell Lymphoma, Nasal Type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 +MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma angiocentric T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-cell lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma angiocentric T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma Nasal Type Extranodal NK/T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma nasal type Extranodal NK/T-cell lymphoma NCIT:C4684 MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym reticulosis, malignant reticulosis, malignant RETICULOSIS, MALIGNANT NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma reticulosis, malignant NCIT:C4684 -MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy Associated T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 +MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy associated T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy-type T-cell lymphoma enteropathy-type T-cell lymphoma Enteropathy-Type T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma enteropathy-type T-cell lymphoma NCIT:C4737 MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym EATL NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EATL NCIT:C4737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019474 hepatosplenic T-cell lymphoma oio:hasExactSynonym Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic Gamma/Delta T-Cell Lymphoma NCIT:C8459 Hepatosplenic T-Cell Lymphoma Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459 @@ -38903,8 +38326,8 @@ MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExact MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma NCIT:C27349 Histiocytic Sarcoma histiocytic sarcoma NCIT:C27349 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic Sarcoma NCIT:C27349 Histiocytic Sarcoma histiocytic sarcoma NCIT:C27349 MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym sarcoma, histiocytic, malignant sarcoma, histiocytic, malignant SARCOMA, HISTIOCYTIC, MALIGNANT NCIT:C27349 Histiocytic Sarcoma sarcoma, histiocytic, malignant NCIT:C27349 -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 +MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma Langerhans cell sarcoma NCIT:C6921 MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferative disorder methotrexate-associated lymphoproliferative disorder Methotrexate-Associated Lymphoproliferative Disorder NCIT:C7184 Methotrexate-Associated Lymphoproliferative Disorder methotrexate-associated lymphoproliferative disorder NCIT:C7184 MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm neuroendocrine neoplasm Neuroendocrine Neoplasm NCIT:C3809 Neuroendocrine Neoplasm neuroendocrine neoplasm NCIT:C3809 MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine tumor neuroendocrine tumor Neuroendocrine Tumor NCIT:C3809 Neuroendocrine Neoplasm neuroendocrine tumor NCIT:C3809 @@ -39012,7 +38435,6 @@ MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD NCIT:C27 MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym congenital malformation syndrome congenital malformation syndrome Congenital Malformation Syndrome NCIT:C99267 Congenital Malformation Syndrome congenital malformation syndrome NCIT:C99267 MONDO:0019759 epispadias oio:hasExactSynonym epispadias epispadias Epispadias NCIT:C98923 Epispadias epispadias NCIT:C98923 MONDO:0019781 astrocytoma (excluding glioblastoma) oio:hasExactSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS astrocytoma NCIT:C60781 -MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym acrocephalosyndactyly acrocephalosyndactyly Acrocephalosyndactyly NCIT:C34348 Acrocephalosyndactyly acrocephalosyndactyly NCIT:C34348 MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym Addisonian crisis Addisonian crisis Addisonian Crisis NCIT:C112840 Adrenal Crisis Addisonian crisis NCIT:C112840 MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym adrenal crisis adrenal crisis Adrenal Crisis NCIT:C112840 Adrenal Crisis adrenal crisis NCIT:C112840 @@ -39138,12 +38560,12 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym pri MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMBL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMBL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMLCL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMLCL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic large cell lymphoma angiotropic large cell lymphoma Angiotropic Large Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic large cell lymphoma NCIT:C4342 -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma angiotropic lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular B-cell lymphoma NCIT:C4342 -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular Large B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma intravascular large B-cell lymphoma NCIT:C4342 MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym malignant angioendotheliomatosis malignant angioendotheliomatosis Malignant Angioendotheliomatosis NCIT:C4342 Intravascular Large B-Cell Lymphoma malignant angioendotheliomatosis NCIT:C4342 MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 Positive anaplastic large cell lymphoma CD30 Positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma CD30 Positive anaplastic large cell lymphoma NCIT:C3720 MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 positive anaplastic large cell lymphoma CD30 positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma CD30 positive anaplastic large cell lymphoma NCIT:C3720 @@ -39178,7 +38600,6 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSyn MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSynonym Partial anomalous pulmonary Venous return Partial anomalous pulmonary Venous return Partial Anomalous Pulmonary Venous Return NCIT:C99004 Partial Anomalous Pulmonary Venous Return Partial anomalous pulmonary Venous return NCIT:C99004 MONDO:0020481 myotonia fluctuans oio:hasExactSynonym exercise-induced delayed-onset myotonia exercise-induced delayed-onset myotonia Exercise-Induced Delayed-Onset Myotonia NCIT:C122789 Myotonia Fluctuans exercise-induced delayed-onset myotonia NCIT:C122789 MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020491 subcortical band heterotopia oio:hasExactSynonym double cortex syndrome double cortex syndrome Double Cortex Syndrome NCIT:C116933 Double Cortex Syndrome double cortex syndrome NCIT:C116933 MONDO:0020492 hemimegalencephaly oio:hasExactSynonym unilateral megalencephaly unilateral megalencephaly Unilateral Megalencephaly NCIT:C177779 Hemimegalencephaly unilateral megalencephaly NCIT:C177779 MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym Marburg virus disease Marburg virus disease Marburg Virus Disease NCIT:C84883 Marburg Virus Disease Marburg virus disease NCIT:C84883 @@ -39194,8 +38615,8 @@ MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocyt MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma Thymic Neuroendocrine Carcinoma NCIT:C171031 Thymic Neuroendocrine Carcinoma thymic neuroendocrine carcinoma NCIT:C171031 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym Monostotic Langerhans cell histiocytosis Monostotic Langerhans cell histiocytosis Monostotic Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma Monostotic Langerhans cell histiocytosis NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym chronic unifocal Langerhans cell histiocytosis chronic unifocal Langerhans cell histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma chronic unifocal Langerhans cell histiocytosis NCIT:C3016 -MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic Granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 +MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic xanthomatous granuloma eosinophilic xanthomatous granuloma Eosinophilic Xanthomatous Granuloma NCIT:C3016 Eosinophilic Granuloma eosinophilic xanthomatous granuloma NCIT:C3016 MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym unifocal Langerhans cell histiocytosis unifocal Langerhans cell histiocytosis Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma unifocal Langerhans cell histiocytosis NCIT:C3016 MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym classic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis Classic Multifocal Langerhans Cell Histiocytosis NCIT:C6920 Hand-Schuller-Christian Disease classic multifocal Langerhans cell histiocytosis NCIT:C6920 @@ -39228,10 +38649,10 @@ MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma dest MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma Destruens NCIT:C6985 Invasive Hydatidiform Mole chorioadenoma destruens NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive Mole invasive Mole Invasive Mole NCIT:C6985 Invasive Hydatidiform Mole invasive Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive gestational trophoblastic neoplasm invasive gestational trophoblastic neoplasm Invasive Gestational Trophoblastic Neoplasm NCIT:C6985 Invasive Hydatidiform Mole invasive gestational trophoblastic neoplasm NCIT:C6985 -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform Mole NCIT:C6985 MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole invasive hydatidiform mole NCIT:C6985 MONDO:0020550 gestational choriocarcinoma oio:hasExactSynonym gestational choriocarcinoma gestational choriocarcinoma Gestational Choriocarcinoma NCIT:C4646 Gestational Choriocarcinoma gestational choriocarcinoma NCIT:C4646 MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site gestational trophoblastic tumor placental site gestational trophoblastic tumor Placental Site Gestational Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor placental site gestational trophoblastic tumor NCIT:C3757 MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site trophoblastic tumor placental site trophoblastic tumor Placental Site Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor placental site trophoblastic tumor NCIT:C3757 @@ -39272,10 +38693,10 @@ MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tum MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tumor of the central nervous system rhabdoid tumor of the central nervous system Rhabdoid Tumor of the Central Nervous System NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor rhabdoid tumor of the central nervous system NCIT:C6906 MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATRT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic Liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 -MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 +MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma pleomorphic liposarcoma NCIT:C3705 MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 +MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma dedifferentiated liposarcoma NCIT:C3704 MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym DDLPS NCIT:C3704 Dedifferentiated Liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DDLPS NCIT:C3704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym CRPS II NCIT:C121572 Complex Regional Pain Syndrome II CRPS II NCIT:C121572 MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym Complex regional pain syndrome II Complex regional pain syndrome II Complex Regional Pain Syndrome II NCIT:C121572 Complex Regional Pain Syndrome II Complex regional pain syndrome II NCIT:C121572 @@ -39285,7 +38706,6 @@ MONDO:0020575 polymorphic ventricular tachycardia oio:hasExactSynonym polymorph MONDO:0020576 cutaneous vasculitis oio:hasExactSynonym cutaneous vasculitis cutaneous vasculitis Cutaneous Vasculitis NCIT:C112210 Cutaneous Vasculitis cutaneous vasculitis NCIT:C112210 MONDO:0020577 childhood gonadal germ cell tumor oio:hasExactSynonym childhood gonadal germ cell tumor childhood gonadal germ cell tumor Childhood Gonadal Germ Cell Tumor NCIT:C114801 Childhood Gonadal Germ Cell Tumor childhood gonadal germ cell tumor NCIT:C114801 MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis mucositis NCIT:C115965 -MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis mucositis NCIT:C3853 MONDO:0020580 germinomatous germ cell tumor oio:hasExactSynonym germinomatous germ cell tumor germinomatous germ cell tumor Germinomatous Germ Cell Tumor NCIT:C121618 Germinomatous Germ Cell Tumor germinomatous germ cell tumor NCIT:C121618 MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa benign PEComa Benign PEComa NCIT:C121791 Benign PEComa benign PEComa NCIT:C121791 MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa, nos benign PEComa, nos Benign PEComa, NOS NCIT:C121791 Benign PEComa benign PEComa, nos NCIT:C121791 @@ -39325,13 +38745,11 @@ MONDO:0020599 acquired coagulation factor deficiency oio:hasExactSynonym acquir MONDO:0020600 acute pharyngitis oio:hasExactSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis acute pharyngitis NCIT:C34355 MONDO:0020601 mosquito-borne viral encephalitis oio:hasExactSynonym mosquito-borne viral encephalitis mosquito-borne viral encephalitis Mosquito-Borne Viral Encephalitis NCIT:C34823 Mosquito-Borne Viral Encephalitis mosquito-borne viral encephalitis NCIT:C34823 MONDO:0020633 anaplastic cancer oio:hasExactSynonym anaplastic malignant neoplasm anaplastic malignant neoplasm Anaplastic Malignant Neoplasm NCIT:C36025 Anaplastic Malignant Neoplasm anaplastic malignant neoplasm NCIT:C36025 -MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma Who Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 +MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma WHO grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym grade 3 meningioma grade 3 meningioma Grade 3 Meningioma NCIT:C38938 Grade 3 Meningioma grade 3 meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym grade III meningioma grade III meningioma Grade III Meningioma NCIT:C38938 Grade 3 Meningioma grade III meningioma NCIT:C38938 MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma meningioma, malignant NCIT:C38938 -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma meningioma, malignant NCIT:C4051 -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma meningioma, malignant NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic (malignant) meningioma anaplastic (malignant) meningioma Anaplastic (Malignant) Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma anaplastic (malignant) meningioma NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic meningioma anaplastic meningioma Anaplastic Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma anaplastic meningioma NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym malignant meningioma malignant meningioma Malignant Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma malignant meningioma NCIT:C4051 @@ -39383,8 +38801,8 @@ MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactS MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papilloma virus-related squamous cell carcinoma human papilloma virus-related squamous cell carcinoma Human Papilloma Virus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma human papilloma virus-related squamous cell carcinoma NCIT:C27683 MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papillomavirus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma Human Papillomavirus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma human papillomavirus-related squamous cell carcinoma NCIT:C27683 MONDO:0020660 osteoblastic osteosarcoma oio:hasExactSynonym osteoblastic osteosarcoma osteoblastic osteosarcoma Osteoblastic Osteosarcoma NCIT:C53953 Osteoblastic Osteosarcoma osteoblastic osteosarcoma NCIT:C53953 -MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated Round Cell Sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 +MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma undifferentiated round cell sarcoma NCIT:C121799 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous neoplasm borderline ovarian serous neoplasm Borderline Ovarian Serous Neoplasm NCIT:C5226 Borderline Ovarian Serous Tumor borderline ovarian serous neoplasm NCIT:C5226 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous tumor borderline ovarian serous tumor Borderline Ovarian Serous Tumor NCIT:C5226 Borderline Ovarian Serous Tumor borderline ovarian serous tumor NCIT:C5226 MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline serous neoplasm of ovary borderline serous neoplasm of ovary Borderline Serous Neoplasm of Ovary NCIT:C5226 Borderline Ovarian Serous Tumor borderline serous neoplasm of ovary NCIT:C5226 @@ -39453,7 +38871,6 @@ MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym brachial amyotr MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym flail arm syndrome flail arm syndrome Flail Arm Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia flail arm syndrome NCIT:C133085 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym man-in-barrel syndrome man-in-barrel syndrome Man-in-barrel Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia man-in-barrel syndrome NCIT:C133085 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020710 amnionitis oio:hasExactSynonym amnionitis amnionitis Amnionitis NCIT:C50459 Amnionitis amnionitis NCIT:C50459 MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym 46,XY sex reversal 1 46,XY sex reversal 1 46,XY Sex Reversal 1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 46,XY sex reversal 1 NCIT:C128188 MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym SRXY1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SRXY1 NCIT:C128188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -39484,14 +38901,14 @@ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squamous cell carcinoma in situ skin squamous cell carcinoma in situ Skin Squamous Cell Carcinoma In Situ NCIT:C2906 Skin Squamous Cell Carcinoma In Situ skin squamous cell carcinoma in situ NCIT:C2906 MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of skin squamous cell carcinoma in situ of skin Squamous Cell Carcinoma in situ of Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ squamous cell carcinoma in situ of skin NCIT:C2906 MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of the skin squamous cell carcinoma in situ of the skin Squamous Cell Carcinoma in situ of the Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ squamous cell carcinoma in situ of the skin NCIT:C2906 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen Disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease Bowen disease Bowen Disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin Bowen disease NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease of the skin Bowen disease of the skin Bowen Disease of the Skin NCIT:C62571 Bowen Disease of the Skin Bowen disease of the skin NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen's disease of the skin Bowen's disease of the skin Bowen's Disease of the Skin NCIT:C62571 Bowen Disease of the Skin Bowen's disease of the skin NCIT:C62571 -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal Squamous Cell Carcinoma, Bowen Type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym cauda equina syndrome with neurogenic bladder cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder cauda equina syndrome with neurogenic bladder NCIT:C34453 MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym cerebrospinal fluid rhinorrhea cerebrospinal fluid rhinorrhea Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea cerebrospinal fluid rhinorrhea NCIT:C84627 MONDO:0020779 cartilage development disorder oio:hasExactSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder cartilage development disorder NCIT:C34466 @@ -39504,7 +38921,6 @@ MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynony MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynonym demyelinating disorder of central nervous system demyelinating disorder of central nervous system Demyelinating Disorder of Central Nervous System NCIT:C34526 Demyelinating Disorder of Central Nervous System demyelinating disorder of central nervous system NCIT:C34526 MONDO:0020801 rectal medullary carcinoma oio:hasExactSynonym rectal medullary carcinoma rectal medullary carcinoma Rectal Medullary Carcinoma NCIT:C60640 Rectal Medullary Carcinoma rectal medullary carcinoma NCIT:C60640 MONDO:0020804 basal cell carcinoma oio:hasExactSynonym malignant basal cell neoplasm malignant basal cell neoplasm Malignant Basal Cell Neoplasm NCIT:C156767 Basal Cell Carcinoma malignant basal cell neoplasm NCIT:C156767 -MONDO:0020804 basal cell carcinoma oio:hasExactSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma basal cell cancer NCIT:C2921 MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Tumor NCIT:C39966 MONDO:0020808 testicular sertoli cell tumor oio:hasExactSynonym Sertoli Cell Neoplasm of Testis NCIT:C4672 Testicular Sertoli Cell Tumor Sertoli Cell Neoplasm of Testis NCIT:C4672 @@ -39539,7 +38955,6 @@ MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy Nevu MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy nevus NCIT:C3074 Hairy Nevus hairy nevus NCIT:C3074 MONDO:0020980 hair nevus oio:hasExactSynonym nevoid hypertrichosis nevoid hypertrichosis Nevoid Hypertrichosis NCIT:C3074 Hairy Nevus nevoid hypertrichosis NCIT:C3074 MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym hereditary persistence of fetal hemoglobin hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin hereditary persistence of fetal hemoglobin NCIT:C129072 -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis hemochromatosis NCIT:C82892 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE-associated hereditary hemochromatosis HFE-associated hereditary hemochromatosis HFE-Associated Hereditary Hemochromatosis NCIT:C84764 HFE-Associated Hereditary Hemochromatosis HFE-associated hereditary hemochromatosis NCIT:C84764 MONDO:0021003 polydactyly oio:hasExactSynonym hyperdactyly hyperdactyly Hyperdactyly NCIT:C87110 Polydactyly hyperdactyly NCIT:C87110 MONDO:0021003 polydactyly oio:hasExactSynonym polydactylism polydactylism Polydactylism NCIT:C87110 Polydactyly polydactylism NCIT:C87110 @@ -39632,10 +39047,10 @@ MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal neoplasm vaginal neo MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm vaginal tumor NCIT:C3437 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Extra-adrenal paraganglioma parasympathetic Extra-adrenal paraganglioma Parasympathetic Extra-Adrenal Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic Extra-adrenal paraganglioma NCIT:C4217 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Paraganglionic neoplasm parasympathetic Paraganglionic neoplasm Parasympathetic Paraganglionic Neoplasm NCIT:C4217 Parasympathetic Paraganglioma parasympathetic Paraganglionic neoplasm NCIT:C4217 -MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 +MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma parasympathetic paraganglioma NCIT:C4217 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid Body Paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma carotid body paraganglioma NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym paraganglioma of carotid body paraganglioma of carotid body Paraganglioma of Carotid Body NCIT:C2932 Carotid Body Paraganglioma paraganglioma of carotid body NCIT:C2932 MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma bone sarcoma Bone Sarcoma NCIT:C9312 Bone Sarcoma bone sarcoma NCIT:C9312 MONDO:0021054 bone sarcoma oio:hasExactSynonym osseous sarcoma osseous sarcoma Osseous Sarcoma NCIT:C9312 Bone Sarcoma osseous sarcoma NCIT:C9312 @@ -39657,13 +39072,8 @@ MONDO:0021058 neoplastic syndrome oio:hasExactSynonym cancer-related syndrome c MONDO:0021058 neoplastic syndrome oio:hasExactSynonym neoplastic syndrome neoplastic syndrome Neoplastic Syndrome NCIT:C54705 Neoplastic Syndrome neoplastic syndrome NCIT:C54705 MONDO:0021058 neoplastic syndrome oio:hasExactSynonym tumor syndrome tumor syndrome Tumor Syndrome NCIT:C54705 Neoplastic Syndrome tumor syndrome NCIT:C54705 MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy NCIT:C179667 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL RASopathy NCIT:C179667 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 neurofibromatosis NCIT:C3273 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 peripheral Neurofibromatosis NCIT:C3273 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 acoustic neurofibromatosis NCIT:C3274 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis Central Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 central Neurofibromatosis NCIT:C3274 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis neurofibromatosis NCIT:C6727 MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis syndrome neurofibromatosis syndrome Neurofibromatosis Syndrome NCIT:C6727 Neurofibromatosis neurofibromatosis syndrome NCIT:C6727 -MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma colon cancer NCIT:C4910 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon neoplasm, malignant colon neoplasm, malignant Colon Neoplasm, Malignant NCIT:C9242 Malignant Colon Neoplasm colon neoplasm, malignant NCIT:C9242 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon tumor, malignant colon tumor, malignant Colon Tumor, Malignant NCIT:C9242 Malignant Colon Neoplasm colon tumor, malignant NCIT:C9242 MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym malignant colon neoplasm malignant colon neoplasm Malignant Colon Neoplasm NCIT:C9242 Malignant Colon Neoplasm malignant colon neoplasm NCIT:C9242 @@ -39678,8 +39088,8 @@ MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare tumor glomus jugulare tumor Glomus Jugulare Tumor NCIT:C3061 Jugulotympanic Paraganglioma glomus jugulare tumor NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugular paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugular paraganglioma NCIT:C3061 -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 +MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma jugulotympanic paraganglioma NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of glomus jugulare neoplasm of glomus jugulare Neoplasm of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma neoplasm of glomus jugulare NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of the glomus jugulare neoplasm of the glomus jugulare Neoplasm of the Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma neoplasm of the glomus jugulare NCIT:C3061 MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym tumor of glomus jugulare tumor of glomus jugulare Tumor of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma tumor of glomus jugulare NCIT:C3061 @@ -39710,7 +39120,6 @@ MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumor ovarian tumor MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumors ovarian tumors Ovarian Tumors NCIT:C4984 Ovarian Neoplasm ovarian tumors NCIT:C4984 MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of ovary tumor of ovary Tumor of Ovary NCIT:C4984 Ovarian Neoplasm tumor of ovary NCIT:C4984 MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm tumor of the ovary NCIT:C4984 -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor Endocrine tumor Endocrine Tumor NCIT:C3010 Endocrine Neoplasm Endocrine tumor NCIT:C3010 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym endocrine neoplasm, malignant endocrine neoplasm, malignant Endocrine Neoplasm, Malignant NCIT:C3575 Malignant Endocrine Neoplasm endocrine neoplasm, malignant NCIT:C3575 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland neoplasm malignant endocrine gland neoplasm Malignant Endocrine Gland Neoplasm NCIT:C3575 Malignant Endocrine Neoplasm malignant endocrine gland neoplasm NCIT:C3575 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland tumor malignant endocrine gland tumor Malignant Endocrine Gland Tumor NCIT:C3575 Malignant Endocrine Neoplasm malignant endocrine gland tumor NCIT:C3575 @@ -39729,11 +39138,11 @@ MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of larynx neoplas MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of the larynx neoplasm of the larynx Neoplasm of the Larynx NCIT:C3156 Laryngeal Neoplasm neoplasm of the larynx NCIT:C3156 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym Chromaffinoma NCIT:C4216 Sympathetic Paraganglioma Chromaffinoma NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin neoplasm chromaffin neoplasm Chromaffin Neoplasm NCIT:C4216 Sympathetic Paraganglioma chromaffin neoplasm NCIT:C4216 -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma chromaffin tumor NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic Paraganglionic neoplasm sympathetic Paraganglionic neoplasm Sympathetic Paraganglionic Neoplasm NCIT:C4216 Sympathetic Paraganglioma sympathetic Paraganglionic neoplasm NCIT:C4216 -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic Paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma sympathetic paraganglioma NCIT:C4216 MONDO:0021073 paraneoplastic syndrome oio:hasExactSynonym paraneoplastic syndrome paraneoplastic syndrome Paraneoplastic Syndrome NCIT:C3311 Paraneoplastic Syndrome paraneoplastic syndrome NCIT:C3311 MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous condition precancerous condition Precancerous Condition NCIT:C3341 Precancerous Condition precancerous condition NCIT:C3341 MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous state precancerous state Precancerous State NCIT:C3341 Precancerous Condition precancerous state NCIT:C3341 @@ -39750,8 +39159,8 @@ MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of exocrin MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of the exocrine pancreas tumor of the exocrine pancreas Tumor of the Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm tumor of the exocrine pancreas NCIT:C4445 MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic neoplasm cystic neoplasm Cystic Neoplasm NCIT:C6784 Cystic Neoplasm cystic neoplasm NCIT:C6784 MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic tumor cystic tumor Cystic Tumor NCIT:C6784 Cystic Neoplasm cystic tumor NCIT:C6784 -MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 +MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma glandular papilloma NCIT:C6880 MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood neoplasm childhood neoplasm Childhood Neoplasm NCIT:C6283 Childhood Neoplasm childhood neoplasm NCIT:C6283 MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood tumor childhood tumor Childhood Tumor NCIT:C6283 Childhood Neoplasm childhood tumor NCIT:C6283 MONDO:0021079 childhood neoplasm oio:hasExactSynonym pediatric neoplasm pediatric neoplasm Pediatric Neoplasm NCIT:C6283 Childhood Neoplasm pediatric neoplasm NCIT:C6283 @@ -39781,9 +39190,8 @@ MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gingiva tumor of g MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gum tumor of gum Tumor of Gum NCIT:C3057 Gingival Neoplasm tumor of gum NCIT:C3057 MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gingiva tumor of the gingiva Tumor of the Gingiva NCIT:C3057 Gingival Neoplasm tumor of the gingiva NCIT:C3057 MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gum tumor of the gum Tumor of the Gum NCIT:C3057 Gingival Neoplasm tumor of the gum NCIT:C3057 -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma papillary meningioma NCIT:C8293 +MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma papillary meningioma NCIT:C3904 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS neoplasm malignant PNS neoplasm Malignant PNS Neoplasm NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant PNS neoplasm NCIT:C4961 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS tumor malignant PNS tumor Malignant PNS Tumor NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant PNS tumor NCIT:C4961 MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant neoplasm of PNS malignant neoplasm of PNS Malignant Neoplasm of PNS NCIT:C4961 Malignant Peripheral Nervous System Neoplasm malignant neoplasm of PNS NCIT:C4961 @@ -39851,8 +39259,8 @@ MONDO:0021109 inverted urothelial papilloma oio:hasExactSynonym urinary tract i MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of sweat gland adenoma of sweat gland Adenoma of Sweat Gland NCIT:C7560 Sweat Gland Adenoma adenoma of sweat gland NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of the sweat gland adenoma of the sweat gland Adenoma of the Sweat Gland NCIT:C7560 Sweat Gland Adenoma adenoma of the sweat gland NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma, sweat gland, benign adenoma, sweat gland, benign ADENOMA, SWEAT GLAND, BENIGN NCIT:C7560 Sweat Gland Adenoma adenoma, sweat gland, benign NCIT:C7560 -MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 +MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma sweat gland adenoma NCIT:C7560 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of the ureter neoplasm of the ureter Neoplasm of the Ureter NCIT:C3427 Ureter Neoplasm neoplasm of the ureter NCIT:C3427 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of ureter neoplasm of ureter Neoplasm of Ureter NCIT:C3427 Ureter Neoplasm neoplasm of ureter NCIT:C3427 MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasms of the ureter neoplasms of the ureter Neoplasms of the Ureter NCIT:C3427 Ureter Neoplasm neoplasms of the ureter NCIT:C3427 @@ -39869,7 +39277,6 @@ MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal neoplasm mal MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal tumor malignant scrotal tumor Malignant Scrotal Tumor NCIT:C3560 Malignant Scrotal Neoplasm malignant scrotal tumor NCIT:C3560 MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm malignant tumor of scrotum NCIT:C3560 MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of the scrotum malignant tumor of the scrotum Malignant Tumor of the Scrotum NCIT:C3560 Malignant Scrotal Neoplasm malignant tumor of the scrotum NCIT:C3560 -MONDO:0021112 scrotum cancer oio:hasExactSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma cancer of scrotum NCIT:C6389 MONDO:0021113 respiratory failure oio:hasExactSynonym respiratory failure respiratory failure Respiratory Failure NCIT:C26872 Respiratory Failure respiratory failure NCIT:C26872 MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin gland neoplasm Bartholin gland neoplasm Bartholin Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm Bartholin gland neoplasm NCIT:C6434 MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin's gland neoplasm Bartholin's gland neoplasm Bartholin's Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm Bartholin's gland neoplasm NCIT:C6434 @@ -39934,8 +39341,8 @@ MONDO:0021156 hypophysitis oio:hasExactSynonym hypophysis cerebri hypophysis ce MONDO:0021156 hypophysitis oio:hasExactSynonym nervous system, pituitary nervous system, pituitary Nervous System, Pituitary NCIT:C12399 Pituitary Gland nervous system, pituitary NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary NCIT:C12399 Pituitary Gland pituitary NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary pituitary Pituitary NCIT:C12399 Pituitary Gland pituitary NCIT:C12399 -MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary Gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 +MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland NCIT:C12399 Pituitary Gland pituitary gland NCIT:C12399 MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm kidney neoplasm NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney tumor kidney tumor Kidney Tumor NCIT:C3150 Kidney Neoplasm kidney tumor NCIT:C3150 @@ -39946,8 +39353,6 @@ MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumor renal tumor Renal MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumors renal tumors Renal Tumors NCIT:C3150 Kidney Neoplasm renal tumors NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of kidney tumor of kidney Tumor of Kidney NCIT:C3150 Kidney Neoplasm tumor of kidney NCIT:C3150 MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of the kidney tumor of the kidney Tumor of the Kidney NCIT:C3150 Kidney Neoplasm tumor of the kidney NCIT:C3150 -MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm kidney neoplasm NCIT:C6563 -MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease Paget's disease NCIT:C3292 MONDO:0021165 Paget disease oio:hasExactSynonym Paget disease Paget disease Paget Disease NCIT:C7073 Paget Disease Paget disease NCIT:C7073 MONDO:0021165 Paget disease oio:hasExactSynonym Paget's cell neoplasm Paget's cell neoplasm Paget's Cell Neoplasm NCIT:C7073 Paget Disease Paget's cell neoplasm NCIT:C7073 MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease Paget's disease NCIT:C7073 @@ -40103,7 +39508,6 @@ MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brain stem tumor MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brainstem tumor of brainstem Tumor of Brainstem NCIT:C4869 Brain Stem Neoplasm tumor of brainstem NCIT:C4869 MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brain stem tumor of the brain stem Tumor of the Brain Stem NCIT:C4869 Brain Stem Neoplasm tumor of the brain stem NCIT:C4869 MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm tumor of the brainstem NCIT:C4869 -MONDO:0021228 brainstem neoplasm oio:hasExactSynonym Brain stem neoplasm Brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm Brain stem neoplasm NCIT:C5969 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym ciliary body tumor ciliary body tumor Ciliary Body Tumor NCIT:C4364 Ciliary Body Neoplasm ciliary body tumor NCIT:C4364 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of ciliary body neoplasm of ciliary body Neoplasm of Ciliary Body NCIT:C4364 Ciliary Body Neoplasm neoplasm of ciliary body NCIT:C4364 MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of the ciliary body neoplasm of the ciliary body Neoplasm of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm neoplasm of the ciliary body NCIT:C4364 @@ -40165,7 +39569,6 @@ MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym neoplasm of the spinal c MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C3381 Spinal Cord Neoplasm spinal cord tumor NCIT:C3381 MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of spinal cord tumor of spinal cord Tumor of Spinal Cord NCIT:C3381 Spinal Cord Neoplasm tumor of spinal cord NCIT:C3381 MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm tumor of the spinal cord NCIT:C3381 -MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C9234 Childhood Spinal Cord Neoplasm spinal cord tumor NCIT:C9234 MONDO:0021235 external ear neoplasm oio:hasExactSynonym external Ear tumor external Ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm external Ear tumor NCIT:C4652 MONDO:0021235 external ear neoplasm oio:hasExactSynonym external ear tumor external ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm external ear tumor NCIT:C4652 MONDO:0021235 external ear neoplasm oio:hasExactSynonym neoplasm of external Ear neoplasm of external Ear Neoplasm of External Ear NCIT:C4652 External Ear Neoplasm neoplasm of external Ear NCIT:C4652 @@ -40358,8 +39761,8 @@ MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epigl MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic carcinoma aJCC v8 stage 0 epiglottic carcinoma aJCC v8 Stage 0 Epiglottic Carcinoma AJCC v8 NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 stage 0 epiglottic carcinoma aJCC v8 NCIT:C4592 MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic throat cancer stage 0 epiglottic throat cancer Stage 0 Epiglottic Throat Cancer NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 stage 0 epiglottic throat cancer NCIT:C4592 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of hypopharynx carcinoma in situ of hypopharynx Carcinoma in situ of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of hypopharynx NCIT:C9101 -MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma in situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 +MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 carcinoma in situ of the hypopharynx NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharyngeal carcinoma in situ hypopharyngeal carcinoma in situ Hypopharyngeal Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 hypopharyngeal carcinoma in situ NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharynx carcinoma in situ hypopharynx carcinoma in situ Hypopharynx Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 hypopharynx carcinoma in situ NCIT:C9101 MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym stage 0 carcinoma of hypopharynx stage 0 carcinoma of hypopharynx Stage 0 Carcinoma of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 stage 0 carcinoma of hypopharynx NCIT:C9101 @@ -40485,9 +39888,6 @@ MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of the neck malignant neoplasm of the neck Malignant Neoplasm of the Neck NCIT:C4940 Malignant Neck Neoplasm malignant neoplasm of the neck NCIT:C4940 MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant tumor of the neck malignant tumor of the neck Malignant Tumor of the Neck NCIT:C4940 Malignant Neck Neoplasm malignant tumor of the neck NCIT:C4940 MONDO:0021310 malignant tumor of neck oio:hasExactSynonym neck cancer neck cancer Neck Cancer NCIT:C4940 Malignant Neck Neoplasm neck cancer NCIT:C4940 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma cancer of parathyroid gland NCIT:C4906 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma parathyroid cancer NCIT:C4906 -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma parathyroid gland cancer NCIT:C4906 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid malignant neoplasm of parathyroid Malignant Neoplasm of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of parathyroid gland NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant neoplasm of the parathyroid NCIT:C9322 @@ -40499,7 +39899,6 @@ MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignan MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of parathyroid malignant tumor of parathyroid Malignant Tumor of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid malignant tumor of the parathyroid Malignant Tumor of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of the parathyroid NCIT:C9322 MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid gland malignant tumor of the parathyroid gland Malignant Tumor of the Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm malignant tumor of the parathyroid gland NCIT:C9322 -MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma adrenal cortex cancer NCIT:C9325 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex neoplasm malignant adrenal cortex neoplasm Malignant Adrenal Cortex Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenal cortex neoplasm NCIT:C9327 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex tumor malignant adrenal cortex tumor Malignant Adrenal Cortex Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenal cortex tumor NCIT:C9327 MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenocortical neoplasm malignant adrenocortical neoplasm Malignant Adrenocortical Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm malignant adrenocortical neoplasm NCIT:C9327 @@ -40512,8 +39911,6 @@ MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant eyelid tumor malignan MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of eyelid malignant neoplasm of eyelid Malignant Neoplasm of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant neoplasm of eyelid NCIT:C6786 MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of the eyelid malignant neoplasm of the eyelid Malignant Neoplasm of the Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant neoplasm of the eyelid NCIT:C6786 MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant tumor of eyelid malignant tumor of eyelid Malignant Tumor of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm malignant tumor of eyelid NCIT:C6786 -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym cancer of nasopharynx cancer of nasopharynx Cancer of Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma cancer of nasopharynx NCIT:C3871 -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym nasopharynx cancer nasopharynx cancer Nasopharynx Cancer NCIT:C3871 Nasopharyngeal Carcinoma nasopharynx cancer NCIT:C3871 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal neoplasm malignant nasopharyngeal neoplasm Malignant Nasopharyngeal Neoplasm NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant nasopharyngeal neoplasm NCIT:C9321 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant nasopharyngeal tumor NCIT:C9321 MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm malignant neoplasm of nasopharynx NCIT:C9321 @@ -40543,7 +39940,6 @@ MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant f MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant neoplasm of floor of mouth NCIT:C9318 MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of the floor of the mouth malignant neoplasm of the floor of the mouth Malignant Neoplasm of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant neoplasm of the floor of the mouth NCIT:C9318 MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm malignant tumor of the floor of the mouth NCIT:C9318 -MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma mouth floor cancer NCIT:C9319 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct neoplasm malignant extrahepatic bile duct neoplasm Malignant Extrahepatic Bile Duct Neoplasm NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant extrahepatic bile duct neoplasm NCIT:C7483 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct tumor malignant extrahepatic bile duct tumor Malignant Extrahepatic Bile Duct Tumor NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant extrahepatic bile duct tumor NCIT:C7483 MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant neoplasm of extrahepatic bile duct malignant neoplasm of extrahepatic bile duct Malignant Neoplasm of Extrahepatic Bile Duct NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm malignant neoplasm of extrahepatic bile duct NCIT:C7483 @@ -40786,10 +40182,10 @@ MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym tumor of the chest wal MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body neoplasm aortic body neoplasm Aortic Body Neoplasm NCIT:C4218 Aorticopulmonary Paraganglioma aortic body neoplasm NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic Body Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aortic body paraganglioma NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic body paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aortic body paraganglioma NCIT:C4218 -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic body tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma aortic body tumor NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma aorticopulmonary paraganglioma NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of aortic body neoplasm of aortic body Neoplasm of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma neoplasm of aortic body NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of the aortic body neoplasm of the aortic body Neoplasm of the Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma neoplasm of the aortic body NCIT:C4218 MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym paraganglioma of aortic body paraganglioma of aortic body Paraganglioma of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma paraganglioma of aortic body NCIT:C4218 @@ -41569,7 +40965,6 @@ MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament ne MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament tumor uterine ligament tumor Uterine Ligament Tumor NCIT:C40133 Uterine Ligament Neoplasm uterine ligament tumor NCIT:C40133 MONDO:0021631 brain astrocytoma oio:hasExactSynonym brain astrocytoma brain astrocytoma Brain Astrocytoma NCIT:C60780 Brain Astrocytoma brain astrocytoma NCIT:C60780 MONDO:0021632 primary brain neoplasm oio:hasExactSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm primary brain neoplasm NCIT:C170814 -MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma cerebral astrocytoma NCIT:C4347 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebral hemispheres astrocytoma of cerebral hemispheres Astrocytoma of Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma astrocytoma of cerebral hemispheres NCIT:C4951 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma astrocytoma of cerebrum NCIT:C4951 MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of the cerebral hemispheres astrocytoma of the cerebral hemispheres Astrocytoma of the Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma astrocytoma of the cerebral hemispheres NCIT:C4951 @@ -41583,8 +40978,6 @@ MONDO:0021634 epithelial skin neoplasm oio:hasExactSynonym skin epithelium tumo MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic neoplasm astrocytic neoplasm Astrocytic Neoplasm NCIT:C6958 Astrocytic Tumor astrocytic neoplasm NCIT:C6958 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor astrocytic tumor NCIT:C6958 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astroglioma astroglioma Astroglioma NCIT:C6958 Astrocytic Tumor astroglioma NCIT:C6958 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor astrocytic tumor NCIT:C7049 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor astrocytic tumor NCIT:C9022 MONDO:0021637 low grade glioma oio:hasExactSynonym low grade glioma low grade glioma Low Grade Glioma NCIT:C132067 Low Grade Glioma low grade glioma NCIT:C132067 MONDO:0021637 low grade glioma oio:hasExactSynonym low-grade glioma low-grade glioma Low-Grade Glioma NCIT:C132067 Low Grade Glioma low-grade glioma NCIT:C132067 MONDO:0021638 low grade astrocytic tumor oio:hasExactSynonym low grade astrocytic neoplasm low grade astrocytic neoplasm Low Grade Astrocytic Neoplasm NCIT:C116342 Low Grade Astrocytoma low grade astrocytic neoplasm NCIT:C116342 @@ -41613,8 +41006,8 @@ MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex co MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex cord-stromal tumor ovarian Sex cord-stromal tumor Ovarian Sex Cord-Stromal Tumor NCIT:C4862 Ovarian Sex Cord-Stromal Tumor ovarian Sex cord-stromal tumor NCIT:C4862 MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym sex cord-stromal tumor of ovary sex cord-stromal tumor of ovary Sex Cord-Stromal Tumor of Ovary NCIT:C4862 Ovarian Sex Cord-Stromal Tumor sex cord-stromal tumor of ovary NCIT:C4862 MONDO:0021658 vascular ectasia oio:hasExactSynonym vascular ectasia vascular ectasia Vascular Ectasia NCIT:C45481 Vascular Ectasia vascular ectasia NCIT:C45481 -MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined carcinoid and adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 +MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid neoplasm and adenocarcinoma combined carcinoid neoplasm and adenocarcinoma Combined Carcinoid Neoplasm and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid neoplasm and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid tumor and adenocarcinoma combined carcinoid tumor and adenocarcinoma Combined Carcinoid Tumor and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma combined carcinoid tumor and adenocarcinoma NCIT:C4139 MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym composite carcinoid neoplasm composite carcinoid neoplasm Composite Carcinoid Neoplasm NCIT:C4139 Combined Carcinoid and Adenocarcinoma composite carcinoid neoplasm NCIT:C4139 @@ -41627,8 +41020,8 @@ MONDO:0021662 bile duct neoplasm oio:hasExactSynonym intrahepatic and extrahepa MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym epidermoid spindle cell carcinoma epidermoid spindle cell carcinoma Epidermoid Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma epidermoid spindle cell carcinoma NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym sarcomatoid squamous cell carcinoma sarcomatoid squamous cell carcinoma Sarcomatoid Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma sarcomatoid squamous cell carcinoma NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 -MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous Cell Carcinoma, Sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 +MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, sarcomatoid NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous cell carcinoma, spindle cell NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, spindle cell NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous Cell Carcinoma, Spindle Cell NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell carcinoma, spindle cell NCIT:C27084 MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell spindle cell carcinoma squamous cell spindle cell carcinoma Squamous Cell Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma squamous cell spindle cell carcinoma NCIT:C27084 @@ -41679,8 +41072,8 @@ MONDO:0022022 bowenoid papulosis oio:hasExactSynonym Bowenoid papulosis Bowenoi MONDO:0022022 bowenoid papulosis oio:hasExactSynonym bowenoid papulosis bowenoid papulosis Bowenoid Papulosis NCIT:C8374 Bowenoid Papulosis bowenoid papulosis NCIT:C8374 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor Pindborg tumor Pindborg Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor Pindborg tumor NCIT:C54301 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor Pindborg tumor NCIT:C54301 -MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying epithelial odontogenic tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 +MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor calcifying epithelial odontogenic tumor NCIT:C54301 MONDO:0022103 chronic prostatitis oio:hasExactSynonym chronic prostatitis chronic prostatitis Chronic Prostatitis NCIT:C26930 Chronic Prostatitis chronic prostatitis NCIT:C26930 MONDO:0022220 Parinaud syndrome oio:hasExactSynonym Parinaud syndrome Parinaud syndrome Parinaud Syndrome NCIT:C54102 Parinaud Syndrome Parinaud syndrome NCIT:C54102 MONDO:0022293 vascular disorder of penis oio:hasExactSynonym penile vascular disorder penile vascular disorder Penile Vascular Disorder NCIT:C35218 Penile Vascular Disorder penile vascular disorder NCIT:C35218 @@ -41710,8 +41103,8 @@ MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplast MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma Desmoplastic infantile astrocytoma NCIT:C9476 MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma Desmoplastic infantile astrocytoma Desmoplastic Infantile Astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma Desmoplastic infantile astrocytoma NCIT:C9476 MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym DIA NCIT:C9476 Desmoplastic Infantile Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIA NCIT:C9476 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 +MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic infantile ganglioglioma NCIT:C4738 MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym DIG NCIT:C4738 Desmoplastic Infantile Ganglioglioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIG NCIT:C4738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym diffuse idiopathic pulmonary neuroendocrine cell hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia NCIT:C7437 MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym DIPNECH NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIPNECH NCIT:C7437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -41847,8 +41240,6 @@ MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal Ear neoplasm inte MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal ear neoplasm internal ear neoplasm Internal Ear Neoplasm NCIT:C39784 Inner Ear Neoplasm internal ear neoplasm NCIT:C39784 MONDO:0024323 glomangiomyoma oio:hasExactSynonym glomangiomyoma glomangiomyoma Glomangiomyoma NCIT:C4223 Glomangiomyoma glomangiomyoma NCIT:C4223 MONDO:0024326 pleural adenomatoid tumor oio:hasExactSynonym pleural adenomatoid tumor pleural adenomatoid tumor Pleural Adenomatoid Tumor NCIT:C4499 Pleural Adenomatoid Tumor pleural adenomatoid tumor NCIT:C4499 -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease Chronic renal disease NCIT:C80078 -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C80078 Chronic Kidney Disease chronic renal failure NCIT:C80078 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym CRF - chronic renal failure CRF - chronic renal failure CRF - Chronic Renal Failure NCIT:C9438 Chronic Renal Failure CRF - chronic renal failure NCIT:C9438 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure Chronic renal disease NCIT:C9438 MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C9438 Chronic Renal Failure chronic renal failure NCIT:C9438 @@ -41947,8 +41338,8 @@ MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 grade 2 GRADE 2 NCIT:C28078 Grade 2 grade 2 NCIT:C28078 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade II grade II Grade II NCIT:C28078 Grade 2 grade II NCIT:C28078 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym G2 NCIT:C28078 Grade 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION G2 NCIT:C28078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 Grade 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 +MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 grade 3 NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade III grade III Grade III NCIT:C28079 Grade 3 grade III NCIT:C28079 MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym G3 NCIT:C28079 Grade 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION G3 NCIT:C28079 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym grade 4 grade 4 Grade 4 NCIT:C28082 Grade 4 grade 4 NCIT:C28082 @@ -41972,8 +41363,6 @@ MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym dige MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastroenteropancreatic neuroendocrine neoplasm gastroenteropancreatic neuroendocrine neoplasm Gastroenteropancreatic Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastroenteropancreatic neuroendocrine neoplasm NCIT:C27721 MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal neuroendocrine neoplasm gastrointestinal neuroendocrine neoplasm Gastrointestinal Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastrointestinal neuroendocrine neoplasm NCIT:C27721 MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal system neuroendocrine neoplasm gastrointestinal system neuroendocrine neoplasm Gastrointestinal System Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm gastrointestinal system neuroendocrine neoplasm NCIT:C27721 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor digestive system NET NCIT:C95404 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor digestive system neuroendocrine tumor NCIT:C95404 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic NET EC cell, serotonin producing pancreatic NET EC Cell, Serotonin Producing Pancreatic NET NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor EC cell, serotonin producing pancreatic NET NCIT:C4446 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic neuroendocrine tumor EC cell, serotonin producing pancreatic neuroendocrine tumor EC Cell, Serotonin Producing Pancreatic Neuroendocrine Tumor NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor EC cell, serotonin producing pancreatic neuroendocrine tumor NCIT:C4446 MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym carcinoid tumor of pancreas carcinoid tumor of pancreas Carcinoid Tumor of Pancreas NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor carcinoid tumor of pancreas NCIT:C4446 @@ -42133,9 +41522,6 @@ MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym d MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse tenosynovial giant cell tumor diffuse tenosynovial giant cell tumor Diffuse Tenosynovial Giant Cell Tumor NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type diffuse tenosynovial giant cell tumor NCIT:C3401 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis pigmented villonodular synovitis Pigmented Villonodular Synovitis NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type pigmented villonodular synovitis NCIT:C3401 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor, diffuse type Tenosynovial Giant Cell Tumor, Diffuse Type NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type tenosynovial giant cell tumor, diffuse type NCIT:C3401 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym TGCT NCIT:C8591 Testicular Germ Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGCT NCIT:C8591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant MEST malignant MEST Malignant MEST NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney malignant MEST NCIT:C37265 MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant mixed epithelial stromal tumor of the kidney malignant mixed epithelial stromal tumor of the kidney Malignant Mixed Epithelial Stromal Tumor of the Kidney NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney malignant mixed epithelial stromal tumor of the kidney NCIT:C37265 MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign neoplasm of synovium benign neoplasm of synovium Benign Neoplasm of Synovium NCIT:C3829 Benign Synovial Neoplasm benign neoplasm of synovium NCIT:C3829 @@ -42177,8 +41563,8 @@ MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of clitoris carc MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of the clitoris carcinoma of the clitoris Carcinoma of the Clitoris NCIT:C9362 Clitoral Carcinoma carcinoma of the clitoris NCIT:C9362 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoral carcinoma clitoral carcinoma Clitoral Carcinoma NCIT:C9362 Clitoral Carcinoma clitoral carcinoma NCIT:C9362 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoris carcinoma clitoris carcinoma Clitoris Carcinoma NCIT:C9362 Clitoral Carcinoma clitoris carcinoma NCIT:C9362 -MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 +MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma secondary carcinoma NCIT:C36310 MONDO:0024879 metastatic carcinoma oio:hasExactSynonym metastatic carcinoma metastatic carcinoma Metastatic Carcinoma NCIT:C3482 Metastatic Carcinoma metastatic carcinoma NCIT:C3482 MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic cancer metastatic cancer Metastatic Cancer NCIT:C36263 Metastatic Malignant Neoplasm metastatic cancer NCIT:C36263 MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic malignant neoplasm metastatic malignant neoplasm Metastatic Malignant Neoplasm NCIT:C36263 Metastatic Malignant Neoplasm metastatic malignant neoplasm NCIT:C36263 @@ -42205,16 +41591,15 @@ MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic n MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm pineocytic tumor NCIT:C6965 MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of pineal gland tumor of pineal gland Tumor of Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm tumor of pineal gland NCIT:C6965 MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of the pineal gland tumor of the pineal gland Tumor of the Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm tumor of the pineal gland NCIT:C6965 -MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm pineal parenchymal cell tumor NCIT:C8273 MONDO:0026777 VEXAS syndrome oio:hasExactSynonym vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome NCIT:C181924 VEXAS Syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome NCIT:C181924 MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung colloid adenocarcinoma lung colloid adenocarcinoma Lung Colloid Adenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma lung colloid adenocarcinoma NCIT:C45512 MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung mucinous cystadenocarcinoma lung mucinous cystadenocarcinoma Lung Mucinous Cystadenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma lung mucinous cystadenocarcinoma NCIT:C45512 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic Partially Differentiated Nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma cystic partially differentiated nephroblastoma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic partially differentiated nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma cystic partially differentiated nephroblastoma NCIT:C6897 -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant cystic nephroma NCIT:C6897 MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant multilocular cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma malignant multilocular cystic nephroma NCIT:C6897 MONDO:0030705 Trichomonas prostatitis oio:hasExactSynonym Trichomonas prostatitis Trichomonas prostatitis Trichomonas Prostatitis NCIT:C35176 Trichomonas Prostatitis Trichomonas prostatitis NCIT:C35176 MONDO:0030706 Trichomonas cystitis oio:hasExactSynonym Trichomonas cystitis Trichomonas cystitis Trichomonas Cystitis NCIT:C35405 Trichomonas Cystitis Trichomonas cystitis NCIT:C35405 MONDO:0030707 Trichomonas balanoposthitis oio:hasExactSynonym Trichomonas balanoposthitis Trichomonas balanoposthitis Trichomonas Balanoposthitis NCIT:C35406 Trichomonas Balanoposthitis Trichomonas balanoposthitis NCIT:C35406 @@ -42271,8 +41656,8 @@ MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of ep MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of the epithelium benign tumor of the epithelium Benign Tumor of the Epithelium NCIT:C4092 Benign Epithelial Neoplasm benign tumor of the epithelium NCIT:C4092 MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign Epithelioma, benign NCIT:C4092 Benign Epithelial Neoplasm epithelioma, benign NCIT:C4092 MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign EPITHELIOMA, BENIGN NCIT:C4092 Benign Epithelial Neoplasm epithelioma, benign NCIT:C4092 -MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign Leydig cell tumor, benign LEYDIG CELL TUMOR, BENIGN NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 +MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor Leydig cell tumor, benign NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym adenoma, interstitial adenoma, interstitial Adenoma, Interstitial NCIT:C4212 Benign Leydig Cell Tumor adenoma, interstitial NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell neoplasm benign Leydig cell neoplasm Benign Leydig Cell Neoplasm NCIT:C4212 Benign Leydig Cell Tumor benign Leydig cell neoplasm NCIT:C4212 MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell tumor benign Leydig cell tumor Benign Leydig Cell Tumor NCIT:C4212 Benign Leydig Cell Tumor benign Leydig cell tumor NCIT:C4212 @@ -42383,7 +41768,6 @@ MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym me MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym metastatic tumor to the colon metastatic tumor to the colon Metastatic Tumor to the Colon NCIT:C8411 Metastatic Malignant Neoplasm in the Colon metastatic tumor to the colon NCIT:C8411 MONDO:0042233 disseminated candidiasis oio:hasExactSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis disseminated candidiasis NCIT:C116812 MONDO:0042485 infective arthritis oio:hasExactSynonym infective arthritis infective arthritis Infective Arthritis NCIT:C26700 Infective Arthritis infective arthritis NCIT:C26700 -MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma squamous intraepithelial neoplasia, grade III NCIT:C27093 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN 3 aJCC v6 CIN 3 aJCC v6 CIN 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 CIN 3 aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN grade 3 aJCC v6 CIN grade 3 aJCC v6 CIN Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 CIN grade 3 aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym FIGO stage 0 carcinoma of cervix FIGO stage 0 carcinoma of cervix FIGO Stage 0 Carcinoma of Cervix NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 FIGO stage 0 carcinoma of cervix NCIT:C4000 @@ -42431,7 +41815,6 @@ MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym stage 0 cerv MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix Severe dysplasia aJCC v6 uterine cervix Severe dysplasia aJCC v6 Uterine Cervix Severe Dysplasia AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix Severe dysplasia aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix carcinoma in situ aJCC v6 uterine cervix carcinoma in situ aJCC v6 Uterine Cervix Carcinoma in situ AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix carcinoma in situ aJCC v6 NCIT:C4000 MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix intraepithelial neoplasia grade 3 aJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 Uterine Cervix Intraepithelial Neoplasia Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 NCIT:C4000 -MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym CIN NCIT:C3782 Cervical Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIN NCIT:C3782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical sil cervical sil Cervical SIL NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical sil NCIT:C7346 MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial lesion cervical squamous intraepithelial lesion Cervical Squamous Intraepithelial Lesion NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical squamous intraepithelial lesion NCIT:C7346 MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial neoplasia cervical squamous intraepithelial neoplasia Cervical Squamous Intraepithelial Neoplasia NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia cervical squamous intraepithelial neoplasia NCIT:C7346 @@ -42490,8 +41873,8 @@ MONDO:0043310 amaurosis fugax oio:hasExactSynonym amaurosis fugax amaurosis fug MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis muscle syndrome piriformis muscle syndrome Piriformis Muscle Syndrome NCIT:C85012 Piriformis Muscle Syndrome piriformis muscle syndrome NCIT:C85012 MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis syndrome piriformis syndrome Piriformis Syndrome NCIT:C85012 Piriformis Muscle Syndrome piriformis syndrome NCIT:C85012 MONDO:0043346 progressive transformation of germinal centers oio:hasExactSynonym progressive transformation of Germinal centers progressive transformation of Germinal centers Progressive Transformation of Germinal Centers NCIT:C38408 Progressive Transformation of Germinal Centers progressive transformation of Germinal centers NCIT:C38408 -MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 +MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson lesion NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson pseudotumor Masson pseudotumor Masson Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson pseudotumor NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudosarcoma Masson's pseudosarcoma Masson's Pseudosarcoma NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson's pseudosarcoma NCIT:C4391 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudotumor Masson's pseudotumor Masson's Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia Masson's pseudotumor NCIT:C4391 @@ -42695,7 +42078,6 @@ MONDO:0044768 vagus nerve paraganglioma oio:hasExactSynonym vagus nerve paragan MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin's lymphoma nodular lymphocyte predominant Hodgkin's lymphoma Nodular Lymphocyte Predominant Hodgkin's Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin's lymphoma NCIT:C7258 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym NLPHL NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NLPHL NCIT:C7258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym nephrotic syndrome of childhood - steroid sensitive nephrotic syndrome of childhood - steroid sensitive Nephrotic Syndrome of Childhood - Steroid Sensitive NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive nephrotic syndrome of childhood - steroid sensitive NCIT:C122797 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-responsive nephrotic syndrome steroid-responsive nephrotic syndrome Steroid-Responsive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive steroid-responsive nephrotic syndrome NCIT:C122797 MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-sensitive nephrotic syndrome steroid-sensitive nephrotic syndrome Steroid-Sensitive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive steroid-sensitive nephrotic syndrome NCIT:C122797 @@ -42719,8 +42101,8 @@ MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasEx MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym Mixed hepatocellular cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma Mixed Hepatocellular Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym carcinoma of the liver and intrahepatic biliary tract carcinoma of the liver and intrahepatic biliary tract Carcinoma of the Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma carcinoma of the liver and intrahepatic biliary tract NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) Combined Hepatocellular Cancer and Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C3828 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevi congenital melanocytic nevi Congenital Melanocytic Nevi NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevi NCIT:C3944 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus congenital melanocytic nevus Congenital Melanocytic Nevus NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevus NCIT:C3944 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus of skin congenital melanocytic nevus of skin Congenital Melanocytic Nevus of Skin NCIT:C3944 Congenital Melanocytic Nevus congenital melanocytic nevus of skin NCIT:C3944 @@ -42761,13 +42143,11 @@ MONDO:0044817 acquired idiopathic torsion dystonia oio:hasExactSynonym non-Fami MONDO:0044872 dysautonomia oio:hasExactSynonym dysautonomia dysautonomia Dysautonomia NCIT:C53439 Dysautonomia dysautonomia NCIT:C53439 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood MDS childhood MDS Childhood MDS NCIT:C68744 Childhood Myelodysplastic Syndrome childhood MDS NCIT:C68744 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood myelodysplastic syndrome childhood myelodysplastic syndrome Childhood Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome childhood myelodysplastic syndrome NCIT:C68744 -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory Cytopenia of Childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 +MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood refractory cytopenia of childhood NCIT:C82596 MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym coronary microvascular disease coronary microvascular disease Coronary Microvascular Disease NCIT:C84478 Coronary Microvascular Disease coronary microvascular disease NCIT:C84478 MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044877 paraneoplastic cerebellar degeneration oio:hasExactSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic Cerebellar Degeneration NCIT:C4685 Paraneoplastic Cerebellar Degeneration paraneoplastic cerebellar degeneration NCIT:C4685 MONDO:0044878 adult germ cell tumor oio:hasExactSynonym Adult germ cell tumor Adult germ cell tumor Adult Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor Adult germ cell tumor NCIT:C114777 MONDO:0044879 pancreatic mucinous-cystic neoplasm oio:hasExactSynonym Pancreatic mucinous cystic neoplasm Pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm Pancreatic mucinous cystic neoplasm NCIT:C41247 @@ -42831,11 +42211,9 @@ MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-Lymphoblastic lymp MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-lymphoblastic lymphoma T-lymphoblastic lymphoma T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma T-lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T Lymphoblastic lymphoma precursor T Lymphoblastic lymphoma Precursor T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-Lymphoblastic lymphoma precursor T-Lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-Lymphoblastic lymphoma NCIT:C6919 -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-cell lymphoblastic lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 +MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-cell Lymphoblastic lymphoma NCIT:C6919 MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma precursor T-lymphoblastic lymphoma NCIT:C6919 -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T Lymphoblastic lymphoma T Lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma T Lymphoblastic lymphoma NCIT:C7210 -MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma renal pelvis cancer NCIT:C6142 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant neoplasm of renal pelvis NCIT:C7525 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of the renal pelvis malignant neoplasm of the renal pelvis Malignant Neoplasm of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant neoplasm of the renal pelvis NCIT:C7525 MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant renal pelvis neoplasm NCIT:C7525 @@ -42844,8 +42222,8 @@ MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tum MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tumor of the renal pelvis malignant tumor of the renal pelvis Malignant Tumor of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm malignant tumor of the renal pelvis NCIT:C7525 MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoid hyperplasia atypical lymphoid hyperplasia Atypical Lymphoid Hyperplasia NCIT:C7764 Atypical Lymphoproliferative Disorder atypical lymphoid hyperplasia NCIT:C7764 MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoproliferative disorder atypical lymphoproliferative disorder Atypical Lymphoproliferative Disorder NCIT:C7764 Atypical Lymphoproliferative Disorder atypical lymphoproliferative disorder NCIT:C7764 -MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 +MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation AML with mutated NPM1 NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym NPMc+ AML NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation NPMc+ AML NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with cytoplasmic nucleophosmin acute myeloid leukemia with cytoplasmic nucleophosmin Acute Myeloid Leukemia with Cytoplasmic Nucleophosmin NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation acute myeloid leukemia with cytoplasmic nucleophosmin NCIT:C82431 MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute myeloid leukemia with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation acute myeloid leukemia with mutated NPM1 NCIT:C82431 @@ -42933,8 +42311,8 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054868 meconium ileus oio:hasExactSynonym meconium ileus meconium ileus Meconium Ileus NCIT:C98979 Meconium Ileus meconium ileus NCIT:C98979 MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Del Castillo syndrome Del Castillo syndrome Del Castillo Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome Del Castillo syndrome NCIT:C168988 MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Sertoli cell-only syndrome Sertoli cell-only syndrome Sertoli Cell-Only Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome Sertoli cell-only syndrome NCIT:C168988 -MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy Obstructive Nephropathy NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 +MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy obstructive nephropathy NCIT:C120902 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of peripheral nerve benign granular cell neoplasm of peripheral nerve Benign Granular Cell Neoplasm of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell neoplasm of peripheral nerve NCIT:C5502 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of the peripheral nerve benign granular cell neoplasm of the peripheral nerve Benign Granular Cell Neoplasm of the Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell neoplasm of the peripheral nerve NCIT:C5502 MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell tumor of peripheral nerve benign granular cell tumor of peripheral nerve Benign Granular Cell Tumor of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor benign granular cell tumor of peripheral nerve NCIT:C5502 @@ -43042,8 +42420,8 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 NCIT:C85049 Long QT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia Friedreich's Ataxia NCIT:C84718 MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's ataxia Friedreich's ataxia Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia Friedreich's ataxia NCIT:C84718 MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich ataxia Friedreich ataxia Friedreich Ataxia NCIT:C84718 Friedreich Ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Friedreich ataxia NCIT:C84718 -MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant GLIOMA, MALIGNANT NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 +MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma glioma, malignant NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym high grade glioma high grade glioma High Grade Glioma NCIT:C4822 Malignant Glioma high grade glioma NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym high-grade glioma high-grade glioma High-Grade Glioma NCIT:C4822 Malignant Glioma high-grade glioma NCIT:C4822 MONDO:0100342 malignant glioma oio:hasExactSynonym malignant glial neoplasm malignant glial neoplasm Malignant Glial Neoplasm NCIT:C4822 Malignant Glioma malignant glial neoplasm NCIT:C4822 @@ -43060,7 +42438,6 @@ MONDO:0100470 reactive airway disease oio:hasExactSynonym hyperactive airway di MONDO:0100470 reactive airway disease oio:hasExactSynonym reactive airway disease (AQ) reactive airway disease (AQ) Reactive Airway Disease (AQ) NCIT:C113673 Reactive Airway Disease reactive airway disease (AQ) NCIT:C113673 MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison's disease autoimmune Addison's disease Autoimmune Addison's Disease NCIT:C113814 Autoimmune Primary Adrenal Insufficiency autoimmune Addison's disease NCIT:C113814 MONDO:0100482 extensively drug-resistant tuberculosis oio:hasExactSynonym XDR-TB NCIT:C128417 Extensively Drug-Resistant Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XDR-TB NCIT:C128417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome Bonnevie-Ullrich syndrome NCIT:C26900 MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome Bonnevie-Ullrich syndrome NCIT:C34434 MONDO:0100505 food dermatitis oio:hasExactSynonym dermatitis due to food taken internally dermatitis due to food taken internally Dermatitis due to Food taken Internally NCIT:C34534 Dermatitis due to Food taken Internally dermatitis due to food taken internally NCIT:C34534 MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym familial ovarian carcinoma familial ovarian carcinoma Familial Ovarian Carcinoma NCIT:C36102 Hereditary Ovarian Carcinoma familial ovarian carcinoma NCIT:C36102 @@ -43109,47 +42486,24 @@ MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deleti MONDO:0000104 anemia, hypochromic microcytic with iron overload oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic, with iron overload Anemia, hypochromic microcytic, with iron overload OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic, with iron overload OMIMPS:206100 MONDO:0000118 reticulate pigment disorder oio:hasExactSynonym reticulate pigment disorders reticulate pigment disorders Reticulate pigment disorders OMIMPS:179850 Reticulate pigment disorders reticulate pigment disorders OMIMPS:179850 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies Immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 OMIM:257300 -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000152 thiamine-responsive dysfunction syndrome oio:hasExactSynonym thiamine-responsive dysfunction syndrome thiamine-responsive dysfunction syndrome Thiamine-responsive dysfunction syndrome OMIMPS:249270 Thiamine-responsive dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL thiamine-responsive dysfunction syndrome OMIMPS:249270 -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst OMIM:251505 microphthalmia/coloboma 4 microphthalmia with colobomatous cyst OMIM:251505 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 hard syndrome OMIM:236670 MONDO:0000182 congenital myasthenic syndrome with tubular aggregates oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates myasthenic syndrome, congenital, with tubular aggregates Myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 MONDO:0000188 GLUT1 deficiency syndrome oio:hasExactSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL GLUT1 deficiency syndrome OMIMPS:606777 -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 Laband syndrome OMIM:135500 MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym MSSGM1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSSGM1 OMIM:616033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures oio:hasExactSynonym spinal muscular atrophy with congenital bone fractures spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with congenital bone fractures OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures spinal muscular atrophy with congenital bone fractures OMIMPS:616866 -MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, idiopathic, of infancy OMIM:143880 hypercalcemia, infantile, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED hypercalcemia, idiopathic, of infancy OMIM:143880 MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, infantile hypercalcemia, infantile Hypercalcemia, infantile OMIMPS:143880 Hypercalcemia, infantile hypercalcemia, infantile OMIMPS:143880 MONDO:0000334 multinodular goiter oio:hasExactSynonym goiter, multinodular goiter, multinodular Goiter, multinodular OMIMPS:138800 Goiter, multinodular goiter, multinodular OMIMPS:138800 -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym Ullrich scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy ullrich scleroatonic muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a Ullrich scleroatonic muscular dystrophy OMIM:254090 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym Spondylocostal Dysplasia Spondylocostal Dysplasia spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 Spondylocostal Dysplasia OMIM:122600 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 spondylocostal dysplasia OMIM:122600 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym costovertebral dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive costovertebral dysplasia OMIM:277300 MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysostosis spondylocostal dysostosis Spondylocostal dysostosis OMIMPS:277300 Spondylocostal dysostosis spondylocostal dysostosis OMIMPS:277300 MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym macular dystrophy, vitelliform macular dystrophy, vitelliform Macular dystrophy, vitelliform OMIMPS:153840 Macular dystrophy, vitelliform macular dystrophy, vitelliform OMIMPS:153840 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease polycystic liver disease OMIMPS:174050 MONDO:0000453 short QT syndrome oio:hasExactSynonym short QT syndrome short QT syndrome Short QT syndrome OMIMPS:609620 Short QT syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL short QT syndrome OMIMPS:609620 -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS OMIM:275630 chanarin-dorfman syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS OMIM:275630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome OMIMPS:300352 Cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome OMIMPS:300352 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Ochoa syndrome ochoa syndrome OMIM:236730 urofacial syndrome 1 Ochoa syndrome OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome urofacial syndrome OMIM:236730 urofacial syndrome 1 Urofacial Syndrome OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis with peculiar facial expression OMIM:236730 urofacial syndrome 1 hydronephrosis with peculiar facial expression OMIM:236730 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 urofacial syndrome OMIM:236730 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome Urofacial Syndrome OMIMPS:236730 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome urofacial syndrome OMIMPS:236730 -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 pagetoid amyotrophic lateral sclerosis OMIM:167320 -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid neuroskeletal syndrome OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 pagetoid neuroskeletal syndrome OMIM:167320 MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia Inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym familial juvenile hyperuricemic nephropathy OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 familial juvenile hyperuricemic nephropathy OMIM:162000 -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 gouty nephropathy, familial juvenile OMIM:162000 MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym tubulointerstitial kidney disease tubulointerstitial kidney disease Tubulointerstitial kidney disease OMIMPS:162000 Tubulointerstitial kidney disease tubulointerstitial kidney disease OMIMPS:162000 -MONDO:0000700 familial hemiplegic migraine oio:hasExactSynonym FHM FHM fhm OMIM:141500 migraine, familial hemiplegic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHM OMIM:141500 -MONDO:0000723 stutter disorder oio:hasExactSynonym stammering OMIM:184450 stuttering, familial persistent, 1 stammering OMIM:184450 MONDO:0000824 congenital diarrhea oio:hasExactSynonym diarrhea, congenital diarrhea, congenital Diarrhea, congenital OMIMPS:214700 Diarrhea, congenital diarrhea, congenital OMIMPS:214700 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 mitochondrial myopathy and sideroblastic anemia OMIM:600462 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Andermann syndrome Andermann syndrome andermann syndrome OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy Andermann syndrome OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Charlevoix disease Charlevoix disease charlevoix disease OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy Charlevoix disease OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 @@ -43170,35 +42524,25 @@ MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:207 MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:301800 anus, imperforate anus, imperforate OMIM:301800 MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer OMIM:613659 gastric cancer gastric cancer OMIM:613659 MONDO:0001115 familial polycythemia oio:hasExactSynonym erythrocytosis, familial erythrocytosis, familial Erythrocytosis, familial OMIMPS:133100 Erythrocytosis, familial erythrocytosis, familial OMIMPS:133100 -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 Landouzy-Dejerine muscular dystrophy OMIM:158900 -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy OMIM:158900 MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy OMIMPS:158900 MONDO:0001384 myopia oio:hasExactSynonym myopia myopia Myopia OMIMPS:160700 Myopia myopia OMIMPS:160700 -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberose sclerosis OMIM:191100 tuberous sclerosis 1 tuberose sclerosis OMIM:191100 -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis complex OMIM:191100 tuberous sclerosis 1 tuberous sclerosis complex OMIM:191100 MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis tuberous sclerosis Tuberous sclerosis OMIMPS:191100 Tuberous sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tuberous sclerosis OMIMPS:191100 MONDO:0002009 major depressive disorder oio:hasExactSynonym major depressive disorder OMIM:608516 major depressive disorder major depressive disorder OMIM:608516 MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression OMIM:608516 major depressive disorder unipolar depression OMIM:608516 -MONDO:0002010 FG syndrome oio:hasExactSynonym Keller syndrome Keller syndrome keller syndrome OMIM:305450 opitz-kaveggia syndrome Keller syndrome OMIM:305450 MONDO:0002070 ventricular septal defect oio:hasExactSynonym ventricular septal defect ventricular septal defect Ventricular septal defect OMIMPS:614429 Ventricular septal defect ventricular septal defect OMIMPS:614429 -MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym GSD OMIM:137440 gerstmann-straussler disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GSD OMIM:137440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen storage disease OMIMPS:232200 Glycogen storage disease glycogen storage disease OMIMPS:232200 MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones OMIM:102660 adamantinoma of long bones adamantinoma of long bones OMIM:102660 -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 Treacher Collins Syndrome OMIM:154500 -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome Treacher Collins syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 Treacher Collins syndrome OMIM:154500 MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome Treacher Collins Syndrome OMIMPS:154500 MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome Treacher Collins syndrome OMIMPS:154500 MONDO:0002474 primary hyperoxaluria oio:hasExactSynonym hyperoxaluria, primary hyperoxaluria, primary Hyperoxaluria, primary OMIMPS:259900 Hyperoxaluria, primary hyperoxaluria, primary OMIMPS:259900 MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym immunodeficiency with hyper-IgM immunodeficiency with hyper-IgM Immunodeficiency with hyper-IgM OMIMPS:308230 Immunodeficiency with hyper-IgM immunodeficiency with hyper-IgM OMIMPS:308230 MONDO:0004573 ariboflavinosis oio:hasExactSynonym riboflavin deficiency OMIM:615026 riboflavin deficiency riboflavin deficiency OMIM:615026 MONDO:0004743 hyperhomocysteinemia oio:hasExactSynonym hyperhomocysteinemia OMIM:603174 hyperhomocysteinemia hyperhomocysteinemia OMIM:603174 -MONDO:0004822 bronchiectasis oio:hasExactSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 Polynesian bronchiectasis OMIM:244400 MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm oio:hasExactSynonym celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym CLL OMIM:151400 leukemia, chronic lymphocytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLL OMIM:151400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic OMIM:603165 dermatitis, atopic dermatitis, atopic OMIM:603165 MONDO:0004980 atopic eczema oio:hasExactSynonym eczema, atopic OMIM:603165 dermatitis, atopic eczema, atopic OMIM:603165 MONDO:0004980 atopic eczema oio:hasExactSynonym ATOD ATOD atod OMIM:603165 dermatitis, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATOD OMIM:603165 -MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic dermatitis, atopic Dermatitis, atopic OMIMPS:603165 Dermatitis, atopic dermatitis, atopic OMIMPS:603165 MONDO:0004983 spermatogenic failure oio:hasExactSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure spermatogenic failure OMIMPS:258150 MONDO:0005002 chronic obstructive pulmonary disease oio:hasExactSynonym COPD OMIM:606963 pulmonary disease, chronic obstructive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COPD OMIM:606963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005081 preeclampsia oio:hasExactSynonym preeclampsia/eclampsia preeclampsia/eclampsia Preeclampsia/eclampsia OMIMPS:189800 Preeclampsia/eclampsia preeclampsia/eclampsia OMIMPS:189800 @@ -43213,7 +42557,6 @@ MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym noninsulin-dependent MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes mellitus OMIM:125853 type 2 diabetes mellitus type 2 diabetes mellitus OMIM:125853 MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym T2D OMIM:125853 type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION T2D OMIM:125853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005150 age-related macular degeneration oio:hasExactSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related macular degeneration, age-related OMIMPS:603075 -MONDO:0005180 Parkinson disease oio:hasExactSynonym PD OMIM:168600 parkinson disease, late-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PD OMIM:168600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease OMIMPS:168600 Parkinson disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Parkinson disease OMIMPS:168600 MONDO:0005260 autism oio:hasExactSynonym autism OMIM:209850 autism autism OMIM:209850 MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease inflammatory bowel disease Inflammatory bowel disease OMIMPS:266600 Inflammatory bowel disease inflammatory bowel disease OMIMPS:266600 @@ -43222,10 +42565,8 @@ MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym corneal dystroph MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias OMIMPS:300633 Hypospadias hypospadias OMIMPS:300633 MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis OMIMPS:166800 Otosclerosis otosclerosis OMIMPS:166800 MONDO:0005382 bone Paget disease oio:hasExactSynonym Paget disease of bone OMIMPS:167250 Paget disease of bone Paget disease of bone OMIMPS:167250 -MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym PBC PBC pbc OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PBC OMIM:109720 MONDO:0005500 congenital disorder of glycosylation type I oio:hasExactSynonym congenital disorders of glycosylation, type I congenital disorders of glycosylation, type I Congenital disorders of glycosylation, type I OMIMPS:212065 Congenital disorders of glycosylation, type I congenital disorders of glycosylation, type I OMIMPS:212065 MONDO:0005501 congenital disorder of glycosylation type II oio:hasExactSynonym congenital disorders of glycosylation, type II congenital disorders of glycosylation, type II Congenital disorders of glycosylation, type II OMIMPS:212066 Congenital disorders of glycosylation, type II congenital disorders of glycosylation, type II OMIMPS:212066 -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym multiple cartilaginous exostoses OMIM:133700 exostoses, multiple, type 1 multiple cartilaginous exostoses OMIM:133700 MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym exostoses, multiple exostoses, multiple Exostoses, Multiple OMIMPS:133700 Exostoses, Multiple exostoses, multiple OMIMPS:133700 MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer OMIM:114500 colorectal cancer colorectal cancer OMIM:114500 MONDO:0005579 idiopathic generalized epilepsy oio:hasExactSynonym epilepsy, idiopathic generalized OMIM:600669 epilepsy, idiopathic generalized epilepsy, idiopathic generalized OMIM:600669 @@ -43238,22 +42579,15 @@ MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym adult lactase MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym disaccharide intolerance 3 OMIM:223100 lactose intolerance, adult type disaccharide intolerance 3 OMIM:223100 MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym hypolactasia, adult type OMIM:223100 lactose intolerance, adult type hypolactasia, adult type OMIM:223100 MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym lactose intolerance, ADULT type lactose intolerance, ADULT type lactose intolerance, adult type OMIM:223100 lactose intolerance, adult type lactose intolerance, ADULT type OMIM:223100 -MONDO:0006248 hydatidiform mole oio:hasExactSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 hydatidiform mole OMIM:231090 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant OMIM:156240 mesothelioma, malignant mesothelioma, malignant OMIM:156240 -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym hemochromatosis, hereditary OMIM:235200 hemochromatosis, type 1 hemochromatosis, hereditary OMIM:235200 MONDO:0006536 congenital generalized lipodystrophy oio:hasExactSynonym lipodystrophy, congenital generalized lipodystrophy, congenital generalized Lipodystrophy, congenital generalized OMIMPS:608594 Lipodystrophy, congenital generalized lipodystrophy, congenital generalized OMIMPS:608594 MONDO:0006602 porokeratosis oio:hasExactSynonym porokeratosis porokeratosis Porokeratosis OMIMPS:175800 Porokeratosis porokeratosis OMIMPS:175800 -MONDO:0006664 atrial septal defect oio:hasExactSynonym ASD ASD asd OMIM:108800 atrial septal defect 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASD OMIM:108800 MONDO:0006664 atrial septal defect oio:hasExactSynonym atrial septal defect atrial septal defect Atrial septal defect OMIMPS:108800 Atrial septal defect atrial septal defect OMIMPS:108800 MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym fibromuscular dysplasia of arteries OMIM:135580 fibromuscular dysplasia, arterial fibromuscular dysplasia of arteries OMIM:135580 MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym FMDA OMIM:135580 fibromuscular dysplasia, arterial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FMDA OMIM:135580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym Melnick-Fraser syndrome Melnick-Fraser syndrome melnick-fraser syndrome OMIM:113650 branchiootorenal syndrome 1 Melnick-Fraser syndrome OMIM:113650 -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal dysplasia OMIM:113650 branchiootorenal syndrome 1 branchiootorenal dysplasia OMIM:113650 MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal syndrome branchiootorenal syndrome Branchiootorenal syndrome OMIMPS:113650 Branchiootorenal syndrome branchiootorenal syndrome OMIMPS:113650 MONDO:0007031 familial abdominal aortic aneurysm oio:hasExactSynonym aortic aneurysm, familial abdominal aortic aneurysm, familial abdominal Aortic aneurysm, familial abdominal OMIMPS:100070 Aortic aneurysm, familial abdominal aortic aneurysm, familial abdominal OMIMPS:100070 MONDO:0007032 prune belly syndrome oio:hasExactSynonym prune belly syndrome OMIM:100100 prune belly syndrome prune belly syndrome OMIM:100100 -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 congenital scalp defects with distal limb reduction anomalies OMIM:100300 -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AOS OMIM:100300 MONDO:0007036 Achard syndrome oio:hasExactSynonym Achard syndrome Achard syndrome achard syndrome OMIM:100700 achard syndrome Achard syndrome OMIM:100700 MONDO:0007037 Achondroplasia oio:hasExactSynonym Achondroplasia Achondroplasia achondroplasia OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Achondroplasia OMIM:100800 MONDO:0007037 Achondroplasia oio:hasExactSynonym ACH OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACH OMIM:100800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -43362,8 +42696,6 @@ MONDO:0007132 anonychia-ectrodactyly oio:hasExactSynonym anonychia-ectrodactyly MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly oio:hasExactSynonym anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type B and ectrodactyly OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly OMIM:106990 MONDO:0007134 Cooks syndrome oio:hasExactSynonym Cooks syndrome Cooks syndrome cooks syndrome OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cooks syndrome OMIM:106995 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym anterior segment dysgenesis 1 OMIM:107250 anterior segment dysgenesis 1 anterior segment dysgenesis 1 OMIM:107250 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym rear syndrome OMIM:107480 townes-brocks syndrome 1 rear syndrome OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 renal-ear-anal-radial syndrome OMIM:107480 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome OMIMPS:107480 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Townes-Brocks syndrome OMIMPS:107480 MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma oio:hasExactSynonym aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome OMIM:107650 apnea, obstructive sleep obstructive sleep apnea syndrome OMIM:107650 @@ -43416,10 +42748,6 @@ MONDO:0007184 alopecia, androgenetic, 1 oio:hasExactSynonym AGA1 OMIM:109200 MONDO:0007185 Banki syndrome oio:hasExactSynonym Banki syndrome Banki syndrome banki syndrome OMIM:109300 banki syndrome Banki syndrome OMIM:109300 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux OMIM:109350 gastroesophageal reflux gastroesophageal reflux OMIM:109350 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux disease OMIM:109350 gastroesophageal reflux gastroesophageal reflux disease OMIM:109350 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin syndrome Gorlin syndrome gorlin syndrome OMIM:109400 basal cell nevus syndrome 1 Gorlin syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin-Goltz syndrome Gorlin-Goltz syndrome gorlin-goltz syndrome OMIM:109400 basal cell nevus syndrome 1 Gorlin-Goltz syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome OMIM:109400 basal cell nevus syndrome 1 basal cell nevus syndrome OMIM:109400 -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym nevoid basal cell carcinoma syndrome OMIM:109400 basal cell nevus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nevoid basal cell carcinoma syndrome OMIM:109400 MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome basal cell nevus syndrome Basal cell nevus syndrome OMIMPS:109400 Basal cell nevus syndrome basal cell nevus syndrome OMIMPS:109400 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 MONDO:0007191 Behcet disease oio:hasExactSynonym Behcet disease OMIM:109650 Behcet syndrome Behcet disease OMIM:109650 @@ -43472,8 +42800,6 @@ MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym hemangiomatous b MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip pseudocleft-hemangiomatous branchial cyst syndrome OMIM:113620 branchiooculofacial syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome OMIM:113620 MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym BOFS OMIM:113620 branchiooculofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOFS OMIM:113620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 OMIM:113650 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL branchiootorenal syndrome 1 OMIM:113650 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 bullous congenital ichthyosiform erythroderma OMIM:113800 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis OMIM:113800 epidermolytic hyperkeratosis 1 epidermolytic ichthyosis OMIM:113800 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis epidermolytic hyperkeratosis Epidermolytic hyperkeratosis OMIMPS:113800 Epidermolytic hyperkeratosis epidermolytic hyperkeratosis OMIMPS:113800 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym PFHB1A OMIM:113900 progressive familial heart block, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFHB1A OMIM:113900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007241 bundle branch block, familial isolated complete right oio:hasExactSynonym bundle branch block, familial isolated complete right OMIM:113950 bundle branch block, familial isolated complete right bundle branch block, familial isolated complete right OMIM:113950 @@ -43486,7 +42812,6 @@ MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial o MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset oio:hasExactSynonym basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly OMIM:114150 camptobrachydactyly camptobrachydactyly OMIM:114150 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia OMIM:114290 campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia OMIM:114290 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD CMD cmd OMIM:123000 craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD OMIM:123000 MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 Gordon syndrome OMIM:114300 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym cancer, hepatocellular OMIM:114550 hepatocellular carcinoma cancer, hepatocellular OMIM:114550 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma OMIM:114550 hepatocellular carcinoma hepatocellular carcinoma OMIM:114550 @@ -43562,16 +42887,12 @@ MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym HMSN1A HM MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym CMT1A OMIM:118220 charcot-marie-tooth disease, demyelinating, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT1A OMIM:118220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type oio:hasExactSynonym Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease, Guadalajara neuronal type charcot-marie-tooth disease, guadalajara neuronal type OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal type Charcot-Marie-Tooth disease, Guadalajara neuronal type OMIM:118230 MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness Charcot-Marie-Tooth disease and deafness OMIM:118300 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers Charcot-Marie-Tooth disease and deafness OMIM:214370 MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism oio:hasExactSynonym Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism charcot-marie-tooth disease with ptosis and parkinsonism OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism OMIM:118301 MONDO:0007313 cheilitis glandularis oio:hasExactSynonym cheilitis glandularis OMIM:118330 cheilitis glandularis cheilitis glandularis OMIM:118330 MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas oio:hasExactSynonym chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 MONDO:0007315 cherubism oio:hasExactSynonym cherubism OMIM:118400 cherubism cherubism OMIM:118400 MONDO:0007315 cherubism oio:hasExactSynonym CRBM CRBM crbm OMIM:118400 cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRBM OMIM:118400 MONDO:0007316 Chiari malformation type I oio:hasExactSynonym Chiari malformation type 1 Chiari malformation type 1 chiari malformation type 1 OMIM:118420 chiari malformation type 1 Chiari malformation type 1 OMIM:118420 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome Alagille syndrome alagille syndrome OMIM:118450 alagille syndrome 1 Alagille syndrome OMIM:118450 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome Alagille-Watson syndrome alagille-watson syndrome OMIM:118450 alagille syndrome 1 Alagille-Watson syndrome OMIM:118450 -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia Arteriohepatic dysplasia arteriohepatic dysplasia OMIM:118450 alagille syndrome 1 Arteriohepatic dysplasia OMIM:118450 MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome OMIMPS:118450 Alagille syndrome Alagille syndrome OMIMPS:118450 MONDO:0007319 chondrocalcinosis 2 oio:hasExactSynonym chondrocalcinosis 2 OMIM:118600 chondrocalcinosis 2 chondrocalcinosis 2 OMIM:118600 MONDO:0007320 chondrocalcinosis due to apatite crystal deposition oio:hasExactSynonym chondrocalcinosis due to apatite crystal deposition OMIM:118610 chondrocalcinosis due to apatite crystal deposition chondrocalcinosis due to apatite crystal deposition OMIM:118610 @@ -43580,7 +42901,6 @@ MONDO:0007323 Chondronectin oio:hasExactSynonym Chondronectin Chondronectin cho MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym choreoathetosis, familial inverted OMIM:118750 choreoathetosis, familial inverted choreoathetosis, familial inverted OMIM:118750 MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 MONDO:0007328 choroidal osteoma, bilateral oio:hasExactSynonym choroidal osteoma, bilateral OMIM:118865 choroidal osteoma, bilateral choroidal osteoma, bilateral OMIM:118865 -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial cirrhosis, familial OMIM:118900 MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial cirrhosis, familial OMIM:215600 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym split-hand/foot malformation with long bone deficiency 1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 split-hand/foot malformation with long bone deficiency 1 OMIM:119100 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym SHFLD1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SHFLD1 OMIM:119100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -43590,8 +42910,6 @@ MONDO:0007335 orofacial cleft 1 oio:hasExactSynonym OFC1 OMIM:119530 orofacia MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym CPLS syndrome CPLS syndrome cpls syndrome OMIM:119550 syngnathia CPLS syndrome OMIM:119550 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym cleft palate-lateral synechia syndrome OMIM:119550 syngnathia cleft palate-lateral synechia syndrome OMIM:119550 MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate OMIM:119570 cleft soft palate cleft soft palate OMIM:119570 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 BCD syndrome OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome 1 blepharocheilodontic syndrome OMIM:119580 MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome blepharocheilodontic syndrome OMIMPS:119580 MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym cleidocranial dysostosis OMIM:119600 cleidocranial dysplasia 1 cleidocranial dysostosis OMIM:119600 MONDO:0007341 cleidorhizomelic syndrome oio:hasExactSynonym cleidorhizomelic syndrome OMIM:119650 cleidorhizomelic syndrome cleidorhizomelic syndrome OMIM:119650 @@ -43631,7 +42949,6 @@ MONDO:0007375 epithelial basement membrane dystrophy oio:hasExactSynonym EBMD MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym fleck corneal dystrophy OMIM:121850 corneal dystrophy, fleck fleck corneal dystrophy OMIM:121850 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym Maumenee corneal dystrophy Maumenee corneal dystrophy maumenee corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 Maumenee corneal dystrophy OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym PPCD1 Ppcd1 PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym Meesmann corneal dystrophy Meesmann corneal dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 Meesmann corneal dystrophy OMIM:122100 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy OMIM:122400 epithelial recurrent erosion dystrophy epithelial recurrent erosion dystrophy OMIM:122400 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED OMIM:122400 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ERED OMIM:122400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007382 Ramos-Arroyo syndrome oio:hasExactSynonym Ramos-Arroyo syndrome Ramos-Arroyo syndrome ramos-arroyo syndrome OMIM:122430 ramos-arroyo syndrome Ramos-Arroyo syndrome OMIM:122430 @@ -43640,7 +42957,6 @@ MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym scoliosis, congen MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 OMIM:122600 spondylocostal dysostosis 5 spondylocostal dysostosis 5 OMIM:122600 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis OMIM:122600 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCDO5 OMIM:122600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED spondylothoracic dysostosis OMIM:277300 MONDO:0007390 coumarin resistance oio:hasExactSynonym coumarin resistance OMIM:122700 coumarin resistance coumarin resistance OMIM:122700 MONDO:0007391 coxa vara oio:hasExactSynonym coxa vara OMIM:122750 coxa vara coxa vara OMIM:122750 MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome OMIM:122780 coxoauricular syndrome coxoauricular syndrome OMIM:122780 @@ -43681,9 +42997,7 @@ MONDO:0007426 deafness, unilateral oio:hasExactSynonym deafness, unilateral O MONDO:0007427 deafness with anhidrotic ectodermal dysplasia oio:hasExactSynonym deafness with anhidrotic ectodermal dysplasia OMIM:125050 deafness with anhidrotic ectodermal dysplasia deafness with anhidrotic ectodermal dysplasia OMIM:125050 MONDO:0007428 deafness-craniofacial syndrome oio:hasExactSynonym deafness-craniofacial syndrome OMIM:125230 deafness-craniofacial syndrome deafness-craniofacial syndrome OMIM:125230 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy plus syndrome OMIM:258501 3-methylglutaconic aciduria, type 3 optic atrophy plus syndrome OMIM:258501 MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus OMIM:125280 dens evaginatus dens evaginatus OMIM:125280 -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym CADASIL CADASIL cadasil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CADASIL OMIM:125310 MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques oio:hasExactSynonym dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-alzheimer amyloid plaques OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques OMIM:125320 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym primary retention of teeth OMIM:125350 failure of tooth eruption, primary primary retention of teeth OMIM:125350 @@ -43725,14 +43039,8 @@ MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym Doyne honey MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym DHRD OMIM:126600 doyne honeycomb retinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DHRD OMIM:126600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007472 basal laminar drusen oio:hasExactSynonym basal laminar drusen OMIM:126700 basal laminar drusen basal laminar drusen OMIM:126700 MONDO:0007472 basal laminar drusen oio:hasExactSynonym drusen of Bruch membrane drusen of Bruch membrane drusen of bruch membrane OMIM:126700 basal laminar drusen drusen of Bruch membrane OMIM:126700 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 Duane syndrome OMIM:126800 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym DRS DRS drs OMIM:126800 duane retraction syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DRS OMIM:126800 MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane retraction syndrome OMIMPS:126800 Duane retraction syndrome Duane retraction syndrome OMIMPS:126800 MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction oio:hasExactSynonym duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral g-cell hyperfunction OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction duodenal ulcer due to antral G-cell hyperfunction OMIM:126840 -MONDO:0007477 3-M syndrome oio:hasExactSynonym Dolichospondylic dysplasia Dolichospondylic dysplasia dolichospondylic dysplasia OMIM:273750 three m syndrome 1 Dolichospondylic dysplasia OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym Le Merrer syndrome Le Merrer syndrome le merrer syndrome OMIM:273750 three m syndrome 1 Le Merrer syndrome OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym dolichospondylic dysplasia OMIM:273750 three m syndrome 1 dolichospondylic dysplasia OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym gloomy face syndrome OMIM:273750 three m syndrome 1 gloomy face syndrome OMIM:273750 MONDO:0007477 3-M syndrome oio:hasExactSynonym Three M Syndrome Three M Syndrome Three M syndrome OMIMPS:273750 Three M syndrome Three M Syndrome OMIMPS:273750 MONDO:0007477 3-M syndrome oio:hasExactSynonym three M syndrome three M syndrome Three M syndrome OMIMPS:273750 Three M syndrome three M syndrome OMIMPS:273750 MONDO:0007479 dwarfism, Levi type oio:hasExactSynonym dwarfism, Levi type dwarfism, Levi type dwarfism, levi type OMIM:127100 dwarfism, levi type dwarfism, Levi type OMIM:127100 @@ -43915,7 +43223,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym CAKUT with MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal cysts and diabetes syndrome OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCAD OMIM:137920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym fibronectin glomerulopathy OMIM:601894 glomerulopathy with fibronectin deposits 2 fibronectin glomerulopathy OMIM:601894 MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym glomerulopathy with fibronectin deposits glomerulopathy with fibronectin deposits Glomerulopathy with fibronectin deposits OMIMPS:137950 Glomerulopathy with fibronectin deposits glomerulopathy with fibronectin deposits OMIMPS:137950 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym Venous malformations with glomus cells Venous malformations with glomus cells venous malformations with glomus cells OMIM:138000 glomuvenous malformations Venous malformations with glomus cells OMIM:138000 MONDO:0007673 Glucoglycinuria oio:hasExactSynonym Glucoglycinuria Glucoglycinuria glucoglycinuria OMIM:138070 glucoglycinuria Glucoglycinuria OMIM:138070 @@ -43987,7 +43294,6 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym HPE3 OMIM:142945 holopr MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym holoprosencephaly 4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL holoprosencephaly 4 OMIM:142946 MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym HPE4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HPE4 OMIM:142946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis humeroradial synostosis OMIM:143050 -MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis humeroradial synostosis OMIM:236400 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym Humerospinal dysostosis Humerospinal dysostosis humerospinal dysostosis OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations Humerospinal dysostosis OMIM:143095 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym chondrodysplasia with multiple dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations chondrodysplasia with multiple dislocations OMIM:143095 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 @@ -44006,7 +43312,6 @@ MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipopr MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2a OMIM:143890 hypercholesterolemia, familial, 1 hyperlipoproteinemia, type 2A OMIM:143890 MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial, 1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypercholesterolemia, familial, 1 OMIM:143890 MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym FHCL1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHCL1 OMIM:143890 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial hypercholesterolemia, familial Hypercholesterolemia, familial OMIMPS:143890 Hypercholesterolemia, familial hypercholesterolemia, familial OMIMPS:143890 MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, familial, 2 hypercholesterolemia, familial, 2 OMIM:144010 MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, autosomal dominant, type B OMIM:144010 hypercholesterolemia, familial, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypercholesterolemia, autosomal dominant, type B OMIM:144010 MONDO:0007752 hyperheparinemia oio:hasExactSynonym hyperheparinemia OMIM:144050 hyperheparinemia hyperheparinemia OMIM:144050 @@ -44136,10 +43441,6 @@ MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym hyperekplexia 1 OMIM:149400 MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym HKPX1 OMIM:149400 hyperekplexia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HKPX1 OMIM:149400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007869 Kyrle disease oio:hasExactSynonym Kyrle disease Kyrle disease kyrle disease OMIM:149500 kyrle disease Kyrle disease OMIM:149500 MONDO:0007870 labia minora, incomplete adhesion of oio:hasExactSynonym labia minora, incomplete adhesion of OMIM:149600 labia minora, incomplete adhesion of labia minora, incomplete adhesion of OMIM:149600 -MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 LACRIMOAURICULODENTODIGITAL syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym LADD syndrome LADD syndrome ladd syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 LADD syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym Levy-Hollister syndrome Levy-Hollister syndrome levy-hollister syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 Levy-Hollister syndrome OMIM:149730 -MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 lacrimoauriculodentodigital syndrome OMIM:149730 MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome LACRIMOAURICULODENTODIGITAL syndrome OMIMPS:149730 MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital syndrome OMIMPS:149730 MONDO:0007873 lactic acidosis, chronic adult form oio:hasExactSynonym lactic acidosis, chronic adult form OMIM:150170 lactic acidosis, chronic adult form lactic acidosis, chronic adult form OMIM:150170 @@ -44201,7 +43502,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym Best macular MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym macular degeneration, polymorphic vitelline OMIM:153700 macular dystrophy, vitelliform, 2 macular degeneration, polymorphic vitelline OMIM:153700 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, early-onset OMIM:153700 macular dystrophy, vitelliform, 2 vitelliform macular dystrophy, early-onset OMIM:153700 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, juvenile-onset OMIM:153700 macular dystrophy, vitelliform, 2 vitelliform macular dystrophy, juvenile-onset OMIM:153700 -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD OMIM:300376 muscular dystrophy, becker type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD OMIM:300376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007932 age related macular degeneration 2 oio:hasExactSynonym ARMD2 OMIM:153800 macular degeneration, age-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARMD2 OMIM:153800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007933 vitelliform macular dystrophy 1 oio:hasExactSynonym VMD1 OMIM:153840 macular dystrophy, vitelliform, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VMD1 OMIM:153840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007934 benign concentric annular macular dystrophy oio:hasExactSynonym retinitis pigmentosa 91 OMIM:153870 retinitis pigmentosa 91 retinitis pigmentosa 91 OMIM:153870 @@ -44239,7 +43539,6 @@ MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma OMIM:155255 MONDO:0007961 megalencephaly, autosomal dominant oio:hasExactSynonym megalencephaly, autosomal dominant OMIM:155350 megalencephaly, autosomal dominant megalencephaly, autosomal dominant OMIM:155350 MONDO:0007962 megalodactyly oio:hasExactSynonym Megalodactyly Megalodactyly megalodactyly OMIM:155500 macrodactyly Megalodactyly OMIM:155500 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome b-k mole syndrome OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 B-K Mole syndrome OMIM:155600 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 MONDO:0007965 melanoma, malignant familial intraocular oio:hasExactSynonym melanoma, malignant familial intraocular OMIM:155700 melanoma, malignant familial intraocular melanoma, malignant familial intraocular OMIM:155700 MONDO:0007967 melanoma and neural system tumor syndrome oio:hasExactSynonym melanoma and neural system tumor syndrome OMIM:155755 melanoma-astrocytoma syndrome melanoma and neural system tumor syndrome OMIM:155755 @@ -44312,7 +43611,6 @@ MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytope MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym myelocerebellar disorder OMIM:159550 ataxia-pancytopenia syndrome myelocerebellar disorder OMIM:159550 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis OMIM:159595 myeloproliferative syndrome, transient transient abnormal myelopoiesis OMIM:159595 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST MST mst OMIM:159595 myeloproliferative syndrome, transient http://purl.obolibrary.org/obo/mondo#ABBREVIATION MST OMIM:159595 -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD OMIM:600334 tibial muscular dystrophy, tardive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD OMIM:600334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008041 myoclonic epilepsy, Hartung type oio:hasExactSynonym myoclonic epilepsy, Hartung type myoclonic epilepsy, Hartung type myoclonic epilepsy, hartung type OMIM:159600 myoclonic epilepsy, hartung type myoclonic epilepsy, Hartung type OMIM:159600 MONDO:0008046 autosomal dominant myoglobinuria oio:hasExactSynonym myoglobinuria, autosomal dominant OMIM:160010 myoglobinuria, autosomal dominant myoglobinuria, autosomal dominant OMIM:160010 MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia OMIM:160120 episodic ataxia, type 1 episodic ataxia with myokymia OMIM:160120 @@ -44323,7 +43621,6 @@ MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym CNM MONDO:0008049 myopathy, distal, infantile-onset oio:hasExactSynonym myopathy, distal, infantile-onset OMIM:160300 myopathy, distal, infantile-onset myopathy, distal, infantile-onset OMIM:160300 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym Laing distal myopathy Laing distal myopathy laing distal myopathy OMIM:160500 myopathy, distal, 1 Laing distal myopathy OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 OMIM:160500 myopathy, distal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPD1 OMIM:160500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tubular aggregate myopathy OMIM:160565 MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans oio:hasExactSynonym myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and glycosaminoglycans OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans OMIM:160570 MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym myopia 2, autosomal dominant OMIM:160700 myopia 2, autosomal dominant myopia 2, autosomal dominant OMIM:160700 MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym MYP2 OMIM:160700 myopia 2, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MYP2 OMIM:160700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -44332,7 +43629,6 @@ MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym myoton MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease steinert disease OMIM:160900 myotonic dystrophy 1 Steinert disease OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica OMIM:160900 myotonic dystrophy 1 dystrophia myotonica OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym DM1 OMIM:160900 myotonic dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DM1 OMIM:160900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy OMIMPS:160900 Myotonic dystrophy Myotonic Dystrophy OMIMPS:160900 MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym Carney complex, type 1 Carney complex, type 1 carney complex, type 1 OMIM:160980 carney complex, type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Carney complex, type 1 OMIM:160980 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome NFJ syndrome nfj syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome NFJ syndrome OMIM:161000 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym Naegeli syndrome Naegeli syndrome naegeli syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome Naegeli syndrome OMIM:161000 @@ -44402,10 +43698,8 @@ MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentodigital MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentoosseous dysplasia OMIM:164200 oculodentodigital dysplasia oculodentoosseous dysplasia OMIM:164200 MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym odd syndrome OMIM:164200 oculodentodigital dysplasia odd syndrome OMIM:164200 MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym Schilbach-Rott syndrome Schilbach-Rott syndrome schilbach-rott syndrome OMIM:164220 schilbach-rott syndrome Schilbach-Rott syndrome OMIM:164220 -MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym obsessive-compulsive disorder OMIM:164230 obsessive-compulsive disorder obsessive-compulsive disorder OMIM:164230 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym FGLDS1 OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FGLDS1 OMIM:164280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym muscular dystrophy, oculopharyngeal OMIM:164300 oculopharyngeal muscular dystrophy 1 muscular dystrophy, oculopharyngeal OMIM:164300 MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy OMIMPS:164300 Oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy OMIMPS:164300 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym SCA1 Sca1 SCA1 OMIM:164400 spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA1 OMIM:164400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair oio:hasExactSynonym onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 @@ -44425,7 +43719,6 @@ MONDO:0008139 OSLAM syndrome oio:hasExactSynonym OSLAM syndrome OSLAM syndrome MONDO:0008140 ossified ear cartilages oio:hasExactSynonym ossified ear cartilages OMIM:165670 ossified ear cartilages ossified ear cartilages OMIM:165670 MONDO:0008141 ossicular malformations, familial oio:hasExactSynonym ossicular malformations, familial OMIM:165680 ossicular malformations, familial ossicular malformations, familial OMIM:165680 MONDO:0008143 osteoarthritis susceptibility 1 oio:hasExactSynonym osteoarthritis susceptibility 1 OMIM:165720 osteoarthritis susceptibility 1 osteoarthritis susceptibility 1 OMIM:165720 -MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 osteochondromatosis OMIM:133700 MONDO:0008145 Ollier disease oio:hasExactSynonym Ollier disease Ollier disease ollier disease OMIM:166000 enchondromatosis, multiple, ollier type Ollier disease OMIM:166000 MONDO:0008145 Ollier disease oio:hasExactSynonym dyschondroplasia OMIM:166000 enchondromatosis, multiple, ollier type dyschondroplasia OMIM:166000 MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type osteochondromatosis OMIM:166000 @@ -44512,7 +43805,6 @@ MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym HYPP OMIM:1 MONDO:0008225 normokalemic periodic paralysis oio:hasExactSynonym normokalemic periodic paralysis OMIM:170600 normokalemic periodic paralysis normokalemic periodic paralysis OMIM:170600 MONDO:0008227 peripheral dysostosis oio:hasExactSynonym peripheral dysostosis OMIM:170700 peripheral dysostosis peripheral dysostosis OMIM:170700 MONDO:0008228 pernicious anemia oio:hasExactSynonym pernicious anemia OMIM:170900 pernicious anemia pernicious anemia OMIM:170900 -MONDO:0008228 pernicious anemia oio:hasExactSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency intrinsic factor deficiency OMIM:261000 MONDO:0008229 peroneal nerve, accessory deep oio:hasExactSynonym peroneal nerve, accessory deep OMIM:170980 peroneal nerve, accessory deep peroneal nerve, accessory deep OMIM:170980 MONDO:0008230 peroxidase, salivary oio:hasExactSynonym peroxidase, salivary OMIM:170990 peroxidase, salivary peroxidase, salivary OMIM:170990 MONDO:0008231 Peyronie disease oio:hasExactSynonym Peyronie disease Peyronie disease peyronie disease OMIM:171000 peyronie disease Peyronie disease OMIM:171000 @@ -44613,8 +43905,6 @@ MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym Pseudoachondroplastic dy MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplastic dysplasia OMIM:177170 pseudoachondroplasia pseudoachondroplastic dysplasia OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplasia OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudoachondroplasia OMIM:177170 -MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 Liddle syndrome OMIM:177200 -MONDO:0008323 Liddle syndrome oio:hasExactSynonym pseudoaldosteronism OMIM:177200 liddle syndrome 1 pseudoaldosteronism OMIM:177200 MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome Liddle syndrome OMIMPS:177200 MONDO:0008324 pseudoarthrogryposis oio:hasExactSynonym pseudoarthrogryposis OMIM:177300 pseudoarthrogryposis pseudoarthrogryposis OMIM:177300 MONDO:0008325 Pseudoatrophoderma colli oio:hasExactSynonym Pseudoatrophoderma colli Pseudoatrophoderma colli pseudoatrophoderma colli OMIM:177350 pseudoatrophoderma colli Pseudoatrophoderma colli OMIM:177350 @@ -44672,9 +43962,6 @@ MONDO:0008391 Robinow-Sorauf syndrome oio:hasExactSynonym Robinow-Sorauf syndro MONDO:0008392 Roussy-Levy syndrome oio:hasExactSynonym Roussy-levy syndrome Roussy-levy syndrome roussy-levy syndrome OMIM:180800 roussy-levy hereditary areflexic dystasia Roussy-levy syndrome OMIM:180800 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome 1 rubinstein-taybi syndrome 1 OMIM:180849 rubinstein-taybi syndrome 1 Rubinstein-Taybi syndrome 1 OMIM:180849 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym RSTS1 OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RSTS1 OMIM:180849 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver Syndrome Russell-Silver Syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 Russell-Silver Syndrome OMIM:180860 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 Russell-Silver syndrome OMIM:180860 -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism silver-russell dwarfism OMIM:180860 silver-russell syndrome 1 Silver-Russell dwarfism OMIM:180860 MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome OMIMPS:180860 Silver-Russell syndrome Silver-Russell syndrome OMIMPS:180860 MONDO:0008395 Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba syndrome Ruvalcaba syndrome ruvalcaba syndrome OMIM:180870 ruvalcaba syndrome Ruvalcaba syndrome OMIM:180870 MONDO:0008396 oculodental syndrome, Rutherfurd type oio:hasExactSynonym Rutherfurd syndrome Rutherfurd syndrome rutherfurd syndrome OMIM:180900 rutherfurd syndrome Rutherfurd syndrome OMIM:180900 @@ -44716,7 +44003,6 @@ MONDO:0008423 sinus node disease and myopia oio:hasExactSynonym sinus node dise MONDO:0008424 sella turcica, bridged oio:hasExactSynonym sella turcica, bridged OMIM:182200 sella turcica, bridged sella turcica, bridged OMIM:182200 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Marfanoid craniosynostosis syndrome marfanoid craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome Marfanoid craniosynostosis syndrome OMIM:182212 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:269150 MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym sister chromatid exchange, frequency of OMIM:182220 sister chromatid exchange, frequency of sister chromatid exchange, frequency of OMIM:182220 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septooptic dysplasia OMIM:182230 septooptic dysplasia septooptic dysplasia OMIM:182230 MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome OMIMPS:182250 Singleton-Merten syndrome Singleton-Merten syndrome OMIMPS:182250 @@ -44798,7 +44084,6 @@ MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSyno MONDO:0008500 striae distensae, familial oio:hasExactSynonym striae distensae, familial OMIM:185200 striae distensae, familial striae distensae, familial OMIM:185200 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber syndrome Sturge-Weber syndrome sturge-weber syndrome OMIM:185300 sturge-weber syndrome Sturge-Weber syndrome OMIM:185300 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS OMIM:601559 MONDO:0008502 sulfhemoglobinemia, congenital oio:hasExactSynonym sulfhemoglobinemia, congenital OMIM:185460 sulfhemoglobinemia, congenital sulfhemoglobinemia, congenital OMIM:185460 MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Worster-Drought syndrome worster-drought syndrome OMIM:185480 suprabulbar paresis, congenital Worster-Drought syndrome OMIM:185480 MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis OMIM:185500 supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL supravalvular aortic stenosis OMIM:185500 @@ -44817,7 +44102,6 @@ MONDO:0008519 multiple synostoses syndrome 1 oio:hasExactSynonym multiple synos MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym Liebenberg syndrome Liebenberg syndrome liebenberg syndrome OMIM:186550 liebenberg syndrome Liebenberg syndrome OMIM:186550 MONDO:0008521 tarsal-carpal coalition syndrome oio:hasExactSynonym tarsal-carpal coalition syndrome OMIM:186570 tarsal-carpal coalition syndrome tarsal-carpal coalition syndrome OMIM:186570 MONDO:0008522 synovial chondromatosis, familial, with dwarfism oio:hasExactSynonym synovial chondromatosis, familial, with dwarfism OMIM:186575 synovial chondromatosis, familial, with dwarfism synovial chondromatosis, familial, with dwarfism OMIM:186575 -MONDO:0008523 Blau syndrome oio:hasExactSynonym EOS EOS eos OMIM:131400 eosinophilia, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOS OMIM:131400 MONDO:0008523 Blau syndrome oio:hasExactSynonym Jabs syndrome Jabs syndrome jabs syndrome OMIM:186580 blau syndrome Jabs syndrome OMIM:186580 MONDO:0008523 Blau syndrome oio:hasExactSynonym arthrocutaneouveal granulomatosis OMIM:186580 blau syndrome arthrocutaneouveal granulomatosis OMIM:186580 MONDO:0008523 Blau syndrome oio:hasExactSynonym granulomatosis, familial juvenile systemic OMIM:186580 blau syndrome granulomatosis, familial juvenile systemic OMIM:186580 @@ -44883,7 +44167,6 @@ MONDO:0008579 toes, relative length of first and second oio:hasExactSynonym toe MONDO:0008580 toes, space between first and second oio:hasExactSynonym toes, space between first and second OMIM:189230 toes, space between first and second toes, space between first and second OMIM:189230 MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia oio:hasExactSynonym malposition of teeth with or without hypodontia/oligodontia OMIM:189490 malposition of teeth with or without hypodontia/oligodontia malposition of teeth with or without hypodontia/oligodontia OMIM:189490 MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym Witkop syndrome Witkop syndrome witkop syndrome OMIM:189500 witkop syndrome Witkop syndrome OMIM:189500 -MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym HND OMIM:234500 hartnup disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HND OMIM:234500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008583 inherited torticollis oio:hasExactSynonym torticollis OMIM:189600 torticollis torticollis OMIM:189600 MONDO:0008584 torus palatinus and torus mandibularis oio:hasExactSynonym torus palatinus and torus mandibularis OMIM:189700 torus palatinus and torus mandibularis torus palatinus and torus mandibularis OMIM:189700 MONDO:0008587 tracheobronchopathia osteochondroplastica oio:hasExactSynonym tracheobronchopathia osteochondroplastica OMIM:189961 tracheopathia osteoplastica tracheobronchopathia osteochondroplastica OMIM:189961 @@ -44942,7 +44225,6 @@ MONDO:0008649 venular insufficiency, systemic oio:hasExactSynonym venular insuf MONDO:0008651 vertebral hypoplasia with lumbar kyphosis oio:hasExactSynonym vertebral hypoplasia with lumbar kyphosis OMIM:192900 vertebral hypoplasia with lumbar kyphosis vertebral hypoplasia with lumbar kyphosis OMIM:192900 MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym vesicoureteral reflux 1 OMIM:193000 vesicoureteral reflux 1 vesicoureteral reflux 1 OMIM:193000 MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym VUR1 OMIM:193000 vesicoureteral reflux 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VUR1 OMIM:193000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym Vesicoureteral reflux OMIMPS:193000 Vesicoureteral reflux Vesicoureteral reflux OMIMPS:193000 MONDO:0008655 vestibulocochlear dysfunction, progressive oio:hasExactSynonym vestibulocochlear dysfunction, progressive OMIM:193005 vestibulocochlear dysfunction, progressive vestibulocochlear dysfunction, progressive OMIM:193005 MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym hypophosphatemic rickets, autosomal dominant OMIM:193100 hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal dominant OMIM:193100 MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym ADHR OMIM:193100 hypophosphatemic rickets, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADHR OMIM:193100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -45012,7 +44294,6 @@ MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACLS OMIM:200990 acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACLS OMIM:200990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:200995 acrocephalopolydactylous dysplasia Elejalde syndrome OMIM:200995 MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym acrocephalopolydactylous dysplasia OMIM:200995 acrocephalopolydactylous dysplasia acrocephalopolydactylous dysplasia OMIM:200995 -MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome Elejalde syndrome OMIM:256710 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym Carpenter syndrome 1 Carpenter syndrome 1 carpenter syndrome 1 OMIM:201000 carpenter syndrome 1 Carpenter syndrome 1 OMIM:201000 MONDO:0008711 Goodman syndrome oio:hasExactSynonym ACPS 4 ACPS 4 acps 4 OMIM:201020 acrocephalopolysyndactyly type 4 ACPS 4 OMIM:201020 MONDO:0008711 Goodman syndrome oio:hasExactSynonym Goodman syndrome Goodman syndrome goodman syndrome OMIM:201020 acrocephalopolysyndactyly type 4 Goodman syndrome OMIM:201020 @@ -45127,7 +44408,6 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym arterial tortuosity syndrome OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arterial tortuosity syndrome OMIM:208050 MONDO:0008819 arteriosclerosis, severe juvenile oio:hasExactSynonym arteriosclerosis, severe juvenile OMIM:208060 arteriosclerosis, severe juvenile arteriosclerosis, severe juvenile OMIM:208060 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence OMIM:208150 fetal akinesia deformation sequence 1 fetal akinesia deformation sequence OMIM:208150 MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence fetal akinesia deformation sequence Fetal akinesia deformation sequence OMIMPS:208150 Fetal akinesia deformation sequence fetal akinesia deformation sequence OMIMPS:208150 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym Illum syndrome Illum syndrome illum syndrome OMIM:208155 illum syndrome Illum syndrome OMIM:208155 MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExactSynonym progressive pseudorheumatoid arthropathy of childhood OMIM:208230 progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL progressive pseudorheumatoid arthropathy of childhood OMIM:208230 @@ -45176,7 +44456,6 @@ MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of oio:hasExactSynony MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase 1 deficiency OMIM:210200 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 -MONDO:0008863 sitosterolemia oio:hasExactSynonym phytosterolemia OMIM:210250 sitosterolemia 1 phytosterolemia OMIM:210250 MONDO:0008863 sitosterolemia oio:hasExactSynonym sitosterolemia sitosterolemia Sitosterolemia OMIMPS:210250 Sitosterolemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sitosterolemia OMIMPS:210250 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym Bietti crystalline corneoretinal dystrophy Bietti crystalline corneoretinal dystrophy bietti crystalline corneoretinal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bietti crystalline corneoretinal dystrophy OMIM:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym BCD OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BCD OMIM:210370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -45257,7 +44536,6 @@ MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz s MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome cenani-lenz syndactyly syndrome OMIM:212780 cenani-lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome OMIM:212780 MONDO:0008932 premature centromere division oio:hasExactSynonym premature centromere division OMIM:212790 premature centromere division premature centromere division OMIM:212790 MONDO:0008932 premature centromere division oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008932 premature centromere division oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:244400 MONDO:0008933 cephalin lipidosis oio:hasExactSynonym cephalin lipidosis OMIM:212800 cephalin lipidosis cephalin lipidosis OMIM:212800 MONDO:0008936 cerebellar ataxia and neurosensory deafness oio:hasExactSynonym cerebellar ataxia and neurosensory deafness OMIM:212850 cerebellar ataxia and neurosensory deafness cerebellar ataxia and neurosensory deafness OMIM:212850 MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia oio:hasExactSynonym cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 @@ -45269,8 +44547,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym Joubert syndrome 1 Joubert MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym JBTS1 OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS1 OMIM:213300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym myoclonus and ataxia OMIM:213400 dyssynergia cerebellaris myoclonica of hunt myoclonus and ataxia OMIM:213400 MONDO:0008946 cerebral angiopathy, dysphoric oio:hasExactSynonym cerebral angiopathy, dysphoric OMIM:213500 cerebral angiopathy, dysphoric cerebral angiopathy, dysphoric OMIM:213500 -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym Primary Familial Brain Calcification Primary Familial Brain Calcification primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 Primary Familial Brain Calcification OMIM:213600 -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 primary familial brain calcification OMIM:213600 MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym cerebrotendinous xanthomatosis OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cerebrotendinous xanthomatosis OMIM:213700 MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym CTX CTx CTX OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTX OMIM:213700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers oio:hasExactSynonym cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 @@ -45301,10 +44577,6 @@ MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym p MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym RCDP1 Rcdp1 RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym Greenberg dysplasia Greenberg dysplasia greenberg dysplasia OMIM:215140 greenberg dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Greenberg dysplasia OMIM:215140 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive Nance-Insley syndrome OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive Nance-Sweeney chondrodysplasia OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym chondrodystrophy with sensorineural deafness OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive chondrodystrophy with sensorineural deafness OMIM:215150 -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym OSMED OSMED osmed OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION OSMED OMIM:215150 MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia OMIMPS:184840 Otospondylomegaepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL otospondylomegaepiphyseal dysplasia OMIMPS:184840 MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome oio:hasExactSynonym chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 MONDO:0008977 chondrosarcoma oio:hasExactSynonym chondrosarcoma OMIM:215300 chondrosarcoma chondrosarcoma OMIM:215300 @@ -45358,8 +44630,6 @@ MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym Crane-Heise syndrome Cra MONDO:0009029 cranial nerves, congenital paresis of oio:hasExactSynonym cranial nerves, congenital paresis of OMIM:218100 cranial nerves, congenital paresis of cranial nerves, congenital paresis of OMIM:218100 MONDO:0009030 cranial nerves, recurrent paresis of oio:hasExactSynonym cranial nerves, recurrent paresis of OMIM:218200 cranial nerves, recurrent paresis of cranial nerves, recurrent paresis of OMIM:218200 MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym craniodiaphyseal dysplasia OMIM:218300 craniodiaphyseal dysplasia craniodiaphyseal dysplasia OMIM:218300 -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym CED CED ced OMIM:131300 camurati-engelmann disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION CED OMIM:131300 -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym Sensenbrenner syndrome Sensenbrenner syndrome sensenbrenner syndrome OMIM:218330 cranioectodermal dysplasia 1 Sensenbrenner syndrome OMIM:218330 MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym cranioectodermal dysplasia cranioectodermal dysplasia Cranioectodermal dysplasia OMIMPS:218330 Cranioectodermal dysplasia cranioectodermal dysplasia OMIMPS:218330 MONDO:0009033 temtamy syndrome oio:hasExactSynonym temtamy syndrome OMIM:218340 temtamy syndrome temtamy syndrome OMIM:218340 MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive oio:hasExactSynonym craniometaphyseal dysplasia, autosomal recessive OMIM:218400 craniometaphyseal dysplasia, autosomal recessive craniometaphyseal dysplasia, autosomal recessive OMIM:218400 @@ -45368,9 +44638,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym Baller-Gerold syndrome MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome oio:hasExactSynonym craniosynostosis-mental retardation-clefting syndrome OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED craniosynostosis-mental retardation-clefting syndrome OMIM:218650 MONDO:0009042 craniotelencephalic dysplasia oio:hasExactSynonym craniotelencephalic dysplasia OMIM:218670 craniotelencephalic dysplasia craniotelencephalic dysplasia OMIM:218670 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome oio:hasExactSynonym crome syndrome OMIM:218900 crome syndrome crome syndrome OMIM:218900 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 cryptophthalmos with other malformations OMIM:219000 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 cryptophthalmos-syndactyly syndrome OMIM:219000 -MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome Fraser syndrome fraser syndrome OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fraser syndrome OMIM:219000 MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fraser syndrome OMIMPS:219000 MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis OMIM:219050 cryptorchidism, unilateral or bilateral undescended testis OMIM:219050 MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym curved nail of fourth toe OMIM:219070 curved nail of fourth toe curved nail of fourth toe OMIM:219070 @@ -45407,9 +44674,6 @@ MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome oio:hasExa MONDO:0009087 deafness, neural, congenital moderate oio:hasExactSynonym deafness, neural, congenital moderate OMIM:221500 deafness, neural, congenital moderate deafness, neural, congenital moderate OMIM:221500 MONDO:0009088 deafness, neural, with atypical atopic dermatitis oio:hasExactSynonym deafness, neural, with atypical atopic dermatitis OMIM:221700 deafness, neural, with atypical atopic dermatitis deafness, neural, with atypical atopic dermatitis OMIM:221700 MONDO:0009089 deafness-oligodontia syndrome oio:hasExactSynonym deafness-oligodontia syndrome OMIM:221740 deafness-oligodontia syndrome deafness-oligodontia syndrome OMIM:221740 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym Nasu-Hakola disease Nasu-Hakola disease nasu-hakola disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Nasu-Hakola disease OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym presenile dementia with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 presenile dementia with bone cysts OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym PLOSL PLOSL plosl OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLOSL OMIM:221770 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 MONDO:0009093 dermatoleukodystrophy oio:hasExactSynonym Dermatoleukodystrophy Dermatoleukodystrophy dermatoleukodystrophy OMIM:221790 dermatoleukodystrophy Dermatoleukodystrophy OMIM:221790 MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym dermochondrocorneal dystrophy OMIM:221800 dermochondrocorneal dystrophy dermochondrocorneal dystrophy OMIM:221800 @@ -45463,7 +44727,6 @@ MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym Riley-Day syndrome Riley-D MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym HSAN3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN3 OMIM:223900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009132 dysautonomia-like disorder oio:hasExactSynonym dysautonomia-like disorder OMIM:224000 dysautonomia-like disorder dysautonomia-like disorder OMIM:224000 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym dysequilibrium syndrome OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 dysequilibrium syndrome OMIM:224050 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium cerebellar ataxia, mental retardation, and dysequilibrium Cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium http://purl.obolibrary.org/obo/mondo#DEPRECATED cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type ia OMIM:224120 anemia, congenital dyserythropoietic, type ia anemia, congenital dyserythropoietic, type Ia OMIM:224120 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym dyskeratosis congenita, autosomal recessive 1 OMIM:224230 dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita, autosomal recessive 1 OMIM:224230 @@ -45712,7 +44975,6 @@ MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym hydranencephaly with renal aplasia-dysplasia OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly hydranencephaly with renal aplasia-dysplasia OMIM:236500 MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 oio:hasExactSynonym hydrocephalus, congenital, 1 OMIM:236600 hydrocephalus, congenital, 1 hydrocephalus, congenital, 1 OMIM:236600 MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 -MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym hydrolethalus syndrome 1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hydrolethalus syndrome 1 OMIM:236680 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym Kaufman-Mckusick syndrome Kaufman-Mckusick syndrome kaufman-mckusick syndrome OMIM:236700 mckusick-kaufman syndrome Kaufman-Mckusick syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym McKusick-Kaufman syndrome McKusick-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome McKusick-Kaufman syndrome OMIM:236700 @@ -45804,8 +45066,6 @@ MONDO:0009453 immune deficiency disease oio:hasExactSynonym immune deficiency d MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 MONDO:0009456 Immunoerythromyeloid hypoplasia oio:hasExactSynonym Immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia immunoerythromyeloid hypoplasia OMIM:242880 immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia OMIM:242880 MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia schimke immunoosseous dysplasia OMIM:242900 schimke immunoosseous dysplasia Schimke immunoosseous dysplasia OMIM:242900 -MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke syndrome Schimke syndrome schimke syndrome OMIM:312840 schimke syndrome Schimke syndrome OMIM:312840 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym insensitivity to pain, congenital OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 insensitivity to pain, congenital OMIM:608654 MONDO:0009460 indolylacroyl glycinuria with intellectual disability oio:hasExactSynonym indolylacroyl glycinuria with mental retardation OMIM:243050 indolylacroyl glycinuria with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED indolylacroyl glycinuria with mental retardation OMIM:243050 MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 spermatogenic failure 5 male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym spermatogenic failure 5 OMIM:243060 spermatogenic failure 5 spermatogenic failure 5 OMIM:243060 @@ -45829,7 +45089,6 @@ MONDO:0009476 atresia of small intestine oio:hasExactSynonym jejunal atresia MONDO:0009477 Stromme syndrome oio:hasExactSynonym Stromme syndrome Stromme syndrome stromme syndrome OMIM:243605 stromme syndrome Stromme syndrome OMIM:243605 MONDO:0009477 Stromme syndrome oio:hasExactSynonym apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 stromme syndrome apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 MONDO:0009477 Stromme syndrome oio:hasExactSynonym jejunal atresia with microcephaly and ocular anomalies OMIM:243605 stromme syndrome jejunal atresia with microcephaly and ocular anomalies OMIM:243605 -MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym Johanson-Blizzard syndrome Johanson-Blizzard syndrome johanson-blizzard syndrome OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Johanson-Blizzard syndrome OMIM:243800 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym Arima syndrome Arima syndrome arima syndrome OMIM:243910 arima syndrome Arima syndrome OMIM:243910 @@ -45864,9 +45123,7 @@ MONDO:0009507 Lambert syndrome oio:hasExactSynonym Lambert syndrome Lambert syn MONDO:0009508 Lambotte syndrome oio:hasExactSynonym Lambotte syndrome Lambotte syndrome lambotte syndrome OMIM:245552 lambotte syndrome Lambotte syndrome OMIM:245552 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous logic syndrome OMIM:245660 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:130720 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome laurence-moon syndrome OMIM:245800 laurence-moon syndrome Laurence-Moon syndrome OMIM:245800 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Norum disease norum disease OMIM:245900 lecithin:cholesterol acyltransferase deficiency Norum disease OMIM:245900 MONDO:0009515 Norum disease oio:hasExactSynonym lecithin:cholesterol acyltransferase deficiency OMIM:245900 lecithin:cholesterol acyltransferase deficiency lecithin:cholesterol acyltransferase deficiency OMIM:245900 MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome donohue syndrome OMIM:246200 donohue syndrome Donohue syndrome OMIM:246200 @@ -45899,7 +45156,6 @@ MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblast MONDO:0009537 lymphoid interstitial pneumonia oio:hasExactSynonym lymphoid interstitial pneumonia OMIM:247610 lymphoid interstitial pneumonia lymphoid interstitial pneumonia OMIM:247610 MONDO:0009538 lymphoid system deterioration, progressive oio:hasExactSynonym lymphoid system deterioration, progressive OMIM:247630 lymphoid system deterioration, progressive lymphoid system deterioration, progressive OMIM:247630 MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym leukemia, acute lymphoblastic OMIM:613065 leukemia, acute lymphoblastic leukemia, acute lymphoblastic OMIM:613065 MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency oio:hasExactSynonym lymphokine deficiency OMIM:247650 lymphokine deficiency lymphokine deficiency OMIM:247650 MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis oio:hasExactSynonym lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 MONDO:0009542 lysine malabsorption syndrome oio:hasExactSynonym lysine malabsorption syndrome OMIM:247950 lysine malabsorption syndrome lysine malabsorption syndrome OMIM:247950 @@ -45926,9 +45182,6 @@ MONDO:0009562 beta-mannosidosis oio:hasExactSynonym Beta-mannosidase deficiency MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal beta-mannosidase deficiency OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidosis OMIM:248510 mannosidosis, beta a, lysosomal beta-mannosidosis OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal lysosomal beta-mannosidase deficiency OMIM:248510 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym BCKD deficiency BCKD deficiency bckd deficiency OMIM:248600 maple syrup urine disease, type 1a BCKD deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym branched-chain ketoaciduria OMIM:248600 maple syrup urine disease, type 1a branched-chain ketoaciduria OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease OMIM:248600 maple syrup urine disease, type 1a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maple syrup urine disease OMIM:248600 MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease maple syrup urine disease Maple syrup urine disease OMIMPS:248600 Maple syrup urine disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maple syrup urine disease OMIMPS:248600 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym Marden-Walker syndrome Marden-Walker syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome Marden-Walker syndrome OMIM:248700 MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome marinesco-sjogren syndrome OMIM:248800 marinesco-sjogren syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Marinesco-Sjogren syndrome OMIM:248800 @@ -45948,7 +45201,6 @@ MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSyno MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym thiamine-responsive myelodysplasia OMIM:249270 thiamine-responsive megaloblastic anemia syndrome thiamine-responsive myelodysplasia OMIM:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym TRMA OMIM:249270 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TRMA OMIM:249270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:249300 megalocornea megalocornea OMIM:249300 -MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:309300 megalocornea megalocornea OMIM:309300 MONDO:0009577 megalocornea-intellectual disability syndrome oio:hasExactSynonym MMR syndrome MMR syndrome mmr syndrome OMIM:249310 neuhauser syndrome MMR syndrome OMIM:249310 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Borrone Dermatocardioskeletal syndrome Borrone Dermatocardioskeletal syndrome borrone dermatocardioskeletal syndrome OMIM:249420 frank-ter haar syndrome Borrone Dermatocardioskeletal syndrome OMIM:249420 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Frank-Ter Haar syndrome Frank-Ter Haar syndrome frank-ter haar syndrome OMIM:249420 frank-ter haar syndrome Frank-Ter Haar syndrome OMIM:249420 @@ -45973,7 +45225,6 @@ MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-coa hydrolase deficiency OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620 MONDO:0009604 methemoglobin reductase deficiency oio:hasExactSynonym methemoglobin reductase deficiency OMIM:250700 methemoglobin reductase deficiency methemoglobin reductase deficiency OMIM:250700 MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase oio:hasExactSynonym methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 -MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria MAT deficiency OMIM:203750 MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT I/III deficiency MAT I/III deficiency mat i/iii deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency MAT I/III deficiency OMIM:250850 MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency MAT deficiency OMIM:250850 MONDO:0009608 methionine malabsorption syndrome oio:hasExactSynonym methionine malabsorption syndrome OMIM:250900 methionine malabsorption syndrome methionine malabsorption syndrome OMIM:250900 @@ -45991,15 +45242,8 @@ MONDO:0009619 microcephaly-micromelia syndrome oio:hasExactSynonym microcephaly MONDO:0009622 Jawad syndrome oio:hasExactSynonym Jawad syndrome Jawad syndrome jawad syndrome OMIM:251255 jawad syndrome Jawad syndrome OMIM:251255 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome nijmegen breakage syndrome OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Nijmegen breakage syndrome OMIM:251260 MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome NBs OMIM:601358 -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 Pseudotoxoplasmosis syndrome OMIM:225750 MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym DMJDS1 OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMJDS1 OMIM:251280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria OMIM:251290 pseudo-torch syndrome 1 band-like calcification with simplified gyration and polymicrogyria OMIM:251290 -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 pseudo-TORCH syndrome OMIM:251290 MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome pseudo-TORCH syndrome OMIMPS:251290 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 Galloway syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 nephrosis-microcephaly syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome OMIM:251300 galloway-mowat syndrome 1 nephrosis-neuronal dysmigration syndrome OMIM:251300 MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome OMIMPS:251300 Galloway-Mowat syndrome Galloway-Mowat syndrome OMIMPS:251300 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym Desbuquois dysplasia 1 Desbuquois dysplasia 1 desbuquois dysplasia 1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Desbuquois dysplasia 1 OMIM:251450 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 OMIM:251600 microphthalmia, isolated 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOP1 OMIM:251600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -46098,8 +45342,6 @@ MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclon MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym myoclonic epilepsy, juvenile OMIM:254770 epilepsy, myoclonic juvenile myoclonic epilepsy, juvenile OMIM:254770 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym EJM OMIM:254770 epilepsy, myoclonic juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EJM OMIM:254770 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclonic juvenile epilepsy, myoclonic juvenile Epilepsy, myoclonic juvenile OMIMPS:254770 Epilepsy, myoclonic juvenile epilepsy, myoclonic juvenile OMIMPS:254770 -MONDO:0009697 Lafora disease oio:hasExactSynonym EPM2 EPM2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM2 OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym Lafora disease Lafora disease lafora disease OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Lafora disease OMIM:254780 MONDO:0009697 Lafora disease oio:hasExactSynonym myoclonic epilepsy of Lafora myoclonic epilepsy of Lafora Myoclonic epilepsy of Lafora OMIMPS:254780 Myoclonic epilepsy of Lafora myoclonic epilepsy of Lafora OMIMPS:254780 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym ULD ULD uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg http://purl.obolibrary.org/obo/mondo#ABBREVIATION ULD OMIM:254800 MONDO:0009699 action myoclonus-renal failure syndrome oio:hasExactSynonym action myoclonus-renal failure syndrome OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure action myoclonus-renal failure syndrome OMIM:254900 @@ -46122,17 +45364,10 @@ MONDO:0009720 Keipert syndrome oio:hasExactSynonym nasodigitoacoustic syndrome, MONDO:0009720 Keipert syndrome oio:hasExactSynonym KPTS OMIM:301026 keipert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KPTS OMIM:301026 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009721 Nathalie syndrome oio:hasExactSynonym Nathalie syndrome Nathalie syndrome nathalie syndrome OMIM:255990 nathalie syndrome Nathalie syndrome OMIM:255990 MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym Native American myopathy Native American myopathy native american myopathy OMIM:255995 congenital myopathy 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED Native American myopathy OMIM:255995 -MONDO:0009723 Leigh syndrome oio:hasExactSynonym LSS OMIM:135750 laurin-sandrow syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LSS OMIM:135750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym focal segmental glomerulosclerosis 10 OMIM:256020 focal segmental glomerulosclerosis 10 focal segmental glomerulosclerosis 10 OMIM:256020 MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym nail-patella-like renal disease OMIM:256020 focal segmental glomerulosclerosis 10 nail-patella-like renal disease OMIM:256020 MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym nemaline myopathy 2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nemaline myopathy 2 OMIM:256030 MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym NEM2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEM2 OMIM:256030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym JMP syndrome JMP syndrome jmp syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 JMP syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Nakajo-Nishimura syndrome Nakajo-Nishimura syndrome nakajo-nishimura syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 Nakajo-Nishimura syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AOII AOII aoii OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AOII OMIM:256050 MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AO2 OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AO2 OMIM:256050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NPH1 nph1 OMIM:256100 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPH1 OMIM:256100 @@ -46250,8 +45485,6 @@ MONDO:0009828 palant cleft palate syndrome oio:hasExactSynonym Palant cleft pal MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym Pallidopyramidal syndrome Pallidopyramidal syndrome pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset Pallidopyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset pallidopyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym parkinsonian-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parkinsonian-pyramidal syndrome OMIM:260300 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 pancreatic insufficiency and bone marrow dysfunction OMIM:260400 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Shwachman-Diamond syndrome OMIM:260400 MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Schwachman-Diamond syndrome OMIMPS:260400 Schwachman-Diamond syndrome Schwachman-Diamond syndrome OMIMPS:260400 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis OMIM:260470 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis subacute sclerosing panencephalitis OMIM:260470 @@ -46374,13 +45607,11 @@ MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 oio:hasExactSynony MONDO:0009932 pulmonary bullae causing pneumothorax oio:hasExactSynonym pulmonary bullae causing pneumothorax OMIM:265200 pulmonary bullae causing pneumothorax pulmonary bullae causing pneumothorax OMIM:265200 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACDMPV OMIM:265380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym PVOD PVOD pvod OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION PVOD OMIM:265450 MONDO:0009938 pulmonic stenosis oio:hasExactSynonym pulmonic stenosis OMIM:265500 pulmonic stenosis pulmonic stenosis OMIM:265500 MONDO:0009939 pulmonic stenosis and congenital nephrosis oio:hasExactSynonym pulmonic stenosis and congenital nephrosis OMIM:265600 pulmonic stenosis and congenital nephrosis pulmonic stenosis and congenital nephrosis OMIM:265600 MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Pyknodysostosis pyknodysostosis OMIM:265800 pycnodysostosis Pyknodysostosis OMIM:265800 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis OMIM:265800 pycnodysostosis pycnodysostosis OMIM:265800 MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym pyknoachondrogenesis OMIM:265880 pyknoachondrogenesis pyknoachondrogenesis OMIM:265880 -MONDO:0009943 Pyle disease oio:hasExactSynonym chondrodysplasia calcificans metaphysealis OMIM:215050 chondrodysplasia calcificans metaphysealis chondrodysplasia calcificans metaphysealis OMIM:215050 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle disease Pyle disease pyle disease OMIM:265900 pyle disease Pyle disease OMIM:265900 MONDO:0009943 Pyle disease oio:hasExactSynonym metaphyseal dysplasia, Pyle type metaphyseal dysplasia, Pyle type metaphyseal dysplasia, pyle type OMIM:265900 pyle disease metaphyseal dysplasia, Pyle type OMIM:265900 MONDO:0009944 pyloric atresia oio:hasExactSynonym pyloric atresia OMIM:265950 pyloric atresia pyloric atresia OMIM:265950 @@ -46393,7 +45624,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 pyruvate kinase deficiency of erythrocyte OMIM:266200 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 pyruvate kinase deficiency of red cells OMIM:266200 MONDO:0009951 radiculoneuropathy, fatal neonatal oio:hasExactSynonym Radiculoneuropathy, fatal neonatal Radiculoneuropathy, fatal neonatal radiculoneuropathy, fatal neonatal OMIM:266250 radiculoneuropathy, fatal neonatal Radiculoneuropathy, fatal neonatal OMIM:266250 -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc CDG IIc cdg iic OMIM:266265 congenital disorder of glycosylation, type iic CDG IIc OMIM:266265 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome Rambam-Hasharon syndrome rambam-hasharon syndrome OMIM:266265 congenital disorder of glycosylation, type iic Rambam-Hasharon syndrome OMIM:266265 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG2C OMIM:266265 congenital disorder of glycosylation, type iic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2C OMIM:266265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -46408,7 +45638,6 @@ MONDO:0009958 adult Refsum disease oio:hasExactSynonym hereditary motor and sen MONDO:0009958 adult Refsum disease oio:hasExactSynonym heredopathia atactica polyneuritiformis OMIM:266500 refsum disease, classic heredopathia atactica polyneuritiformis OMIM:266500 MONDO:0009958 adult Refsum disease oio:hasExactSynonym phytanic acid oxidase deficiency OMIM:266500 refsum disease, classic phytanic acid oxidase deficiency OMIM:266500 MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3b OMIM:266510 peroxisome biogenesis disorder 3b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder 3B OMIM:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym infantile phytanic acid storage disease OMIM:601539 peroxisome biogenesis disorder 1b infantile phytanic acid storage disease OMIM:601539 MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym IBD1 OMIM:266600 inflammatory bowel disease (crohn disease) 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD1 OMIM:266600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009961 renal and mullerian duct hypoplasia oio:hasExactSynonym renal and mullerian duct hypoplasia OMIM:266810 renal and mullerian duct hypoplasia renal and mullerian duct hypoplasia OMIM:266810 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym Senior-Loken syndrome 1 Senior-Loken syndrome 1 senior-loken syndrome 1 OMIM:266900 senior-loken syndrome 1 Senior-Loken syndrome 1 OMIM:266900 @@ -46445,8 +45674,6 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym dyskeratosis congenita, autos MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bone marrow failure OMIM:268130 revesz syndrome exudative retinopathy with bone marrow failure OMIM:268130 MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive oio:hasExactSynonym myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction oio:hasExactSynonym rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM:268315 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome rothmund-thomson syndrome OMIM:268400 rothmund-thomson syndrome, type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome OMIM:268400 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym RTS RTS rts OMIM:312750 rett syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS OMIM:312750 MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome OMIMPS:268400 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rothmund-Thomson syndrome OMIMPS:268400 MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym Rowley-Rosenberg syndrome Rowley-Rosenberg syndrome rowley-rosenberg syndrome OMIM:268500 rowley-rosenberg syndrome Rowley-Rosenberg syndrome OMIM:268500 MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopine dehydrogenase deficiency OMIM:268700 saccharopinuria saccharopine dehydrogenase deficiency OMIM:268700 @@ -46454,7 +45681,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria OMIM:268700 MONDO:0010006 Sandhoff disease oio:hasExactSynonym Hexosaminidases A and B deficiency Hexosaminidases A and B deficiency hexosaminidases a and B deficiency OMIM:268800 sandhoff disease Hexosaminidases A and B deficiency OMIM:268800 MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Sandhoff disease sandhoff disease OMIM:268800 sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sandhoff disease OMIM:268800 MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sarcosinemia OMIM:268900 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS OMIM:269150 MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly OMIM:269160 schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizencephaly OMIM:269160 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome Schmidt syndrome schmidt syndrome OMIM:269200 autoimmune polyendocrine syndrome, type 2 Schmidt syndrome OMIM:269200 @@ -46504,7 +45730,6 @@ MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym SPG23 OMIM MONDO:0010047 hereditary spastic paraplegia 5A oio:hasExactSynonym SPG5A OMIM:270800 spastic paraplegia 5a, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG5A OMIM:270800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010048 spastic paraplegia with myoclonic epilepsy oio:hasExactSynonym spastic paraplegia with myoclonic epilepsy OMIM:270805 spastic paraplegia with myoclonic epilepsy spastic paraplegia with myoclonic epilepsy OMIM:270805 MONDO:0010052 spermatogenic failure 4 oio:hasExactSynonym spermatogenic failure 4 OMIM:270960 spermatogenic failure 4 spermatogenic failure 4 OMIM:270960 -MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym SPH3 OMIM:270970 spherocytosis, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPH3 OMIM:270970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010054 spinal muscular atrophy with intellectual disability oio:hasExactSynonym spinal muscular atrophy with mental retardation OMIM:271109 spinal muscular atrophy with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED spinal muscular atrophy with mental retardation OMIM:271109 MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym spinal muscular atrophy, adult form OMIM:271150 spinal muscular atrophy, type 4 spinal muscular atrophy, adult form OMIM:271150 @@ -46517,7 +45742,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym SCAR3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR3 OMIM:271250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010063 corneal-cerebellar syndrome oio:hasExactSynonym corneal-cerebellar syndrome OMIM:271310 spinocerebellar degeneration and corneal dystrophy corneal-cerebellar syndrome OMIM:271310 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome oio:hasExactSynonym Bedouin spastic ataxia syndrome Bedouin spastic ataxia syndrome bedouin spastic ataxia syndrome OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia Bedouin spastic ataxia syndrome OMIM:271320 -MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:183090 spinocerebellar ataxia 2 spinocerebellar degeneration with slow eye movements OMIM:183090 MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements spinocerebellar degeneration with slow eye movements OMIM:271322 MONDO:0010067 splenoportal vascular anomalies oio:hasExactSynonym splenoportal vascular anomalies OMIM:271500 splenoportal vascular anomalies splenoportal vascular anomalies OMIM:271500 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym sponastrime dysplasia OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type sponastrime dysplasia OMIM:271510 @@ -46683,7 +45907,6 @@ MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis, localized, aut MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis 8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypotrichosis 8 OMIM:278150 MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym HYPT8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT8 OMIM:278150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oio:hasExactSynonym Salamon syndrome Salamon syndrome salamon syndrome OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears Salamon syndrome OMIM:278200 -MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS WSS wss OMIM:241080 woodhouse-sakati syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION WSS OMIM:241080 MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym wrinkly skin syndrome OMIM:278250 wrinkly skin syndrome wrinkly skin syndrome OMIM:278250 MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS OMIM:278250 wrinkly skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WSS OMIM:278250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010209 xanthinuria type I oio:hasExactSynonym xanthinuria, type 1 OMIM:278300 xanthinuria, type 1 xanthinuria, type 1 OMIM:278300 @@ -46929,7 +46152,6 @@ MONDO:0010449 autism, susceptibility to, X-linked 5 oio:hasExactSynonym autism, MONDO:0010454 intellectual disability, X-linked 88 oio:hasExactSynonym mental retardation, X-linked 88 OMIM:300852 intellectual developmental disorder, X-linked 88 http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked 88 OMIM:300852 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XMEN OMIM:300853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, Xp11-associated renal cell carcinoma, Xp11-associated renal cell carcinoma, xp11-associated OMIM:300854 renal cell carcinoma, xp11-associated renal cell carcinoma, Xp11-associated OMIM:300854 -MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, papillary, 1 OMIM:605074 renal cell carcinoma, papillary, 1 renal cell carcinoma, papillary, 1 OMIM:605074 MONDO:0010457 Ogden syndrome oio:hasExactSynonym N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency n-terminal acetyltransferase deficiency OMIM:300855 ogden syndrome N-terminal acetyltransferase deficiency OMIM:300855 MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome ogden syndrome OMIM:300855 ogden syndrome Ogden syndrome OMIM:300855 MONDO:0010457 Ogden syndrome oio:hasExactSynonym OGDNS OMIM:300855 ogden syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OGDNS OMIM:300855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -47050,7 +46272,6 @@ MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with apla MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined oio:hasExactSynonym Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined OMIM:302900 MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym Abruzzo-Erickson syndrome Abruzzo-Erickson syndrome abruzzo-erickson syndrome OMIM:302905 abruzzo-erickson syndrome Abruzzo-Erickson syndrome OMIM:302905 MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym ABERS OMIM:302905 abruzzo-erickson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ABERS OMIM:302905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal brachytelephalangic chondrodysplasia punctata OMIM:602497 MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL choroideremia OMIM:303100 MONDO:0010557 choroideremia oio:hasExactSynonym CHM OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHM OMIM:303100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome gareis-mason syndrome OMIM:303350 masa syndrome Gareis-Mason syndrome OMIM:303350 @@ -47136,7 +46357,6 @@ MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym incontinentia pigmenti MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym epileptic encephalopathy, early infantile, 1 OMIM:308350 developmental and epileptic encephalopathy 1 epileptic encephalopathy, early infantile, 1 OMIM:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym DEE1 OMIM:308350 developmental and epileptic encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEE1 OMIM:308350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma iris hypoplasia with glaucoma OMIM:308500 -MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 iris hypoplasia with glaucoma OMIM:601631 MONDO:0010634 jaundice, familial obstructive, of infancy oio:hasExactSynonym jaundice, familial obstructive, of infancy OMIM:308600 jaundice, familial obstructive, of infancy jaundice, familial obstructive, of infancy OMIM:308600 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 MONDO:0010636 Kallmann syndrome with spastic paraplegia oio:hasExactSynonym Kallmann syndrome with spastic paraplegia Kallmann syndrome with spastic paraplegia kallmann syndrome with spastic paraplegia OMIM:308750 kallmann syndrome with spastic paraplegia Kallmann syndrome with spastic paraplegia OMIM:308750 @@ -47163,7 +46383,6 @@ MONDO:0010651 Menkes disease oio:hasExactSynonym MNK OMIM:309400 menkes disea MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Golabi-Ito-Hall syndrome Golabi-Ito-Hall syndrome golabi-ito-hall syndrome OMIM:309500 renpenning syndrome 1 Golabi-Ito-Hall syndrome OMIM:309500 MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Sutherland-Haan X-linked mental retardation syndrome Sutherland-Haan X-linked mental retardation syndrome sutherland-haan X-linked mental retardation syndrome OMIM:309500 renpenning syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED Sutherland-Haan X-linked mental retardation syndrome OMIM:309500 MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome Partington syndrome OMIM:309510 -MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked Partington syndrome OMIM:312780 MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym Lujan-Fryns syndrome Lujan-Fryns syndrome lujan-fryns syndrome OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type Lujan-Fryns syndrome OMIM:309520 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym MRX MRX mrx OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRX OMIM:309530 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym mental retardation, X-linked 1 OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked 1 OMIM:309530 @@ -47189,7 +46408,6 @@ MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, s MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, syndromic 4, formerly OMIM:309800 microphthalmia, syndromic 1 microphthalmia, syndromic 4, formerly OMIM:309800 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MAA, formerly MAA, formerly maa, formerly OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAA, formerly OMIM:309800 MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCOPS1 OMIM:309800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome MIDAS syndrome midas syndrome OMIM:309801 linear skin defects with multiple congenital anomalies 1 MIDAS syndrome OMIM:309801 MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies Linear skin defects with multiple congenital anomalies OMIMPS:309801 Linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies OMIMPS:309801 MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym modifier, X-linked, for Neurofunctional defects modifier, X-linked, for Neurofunctional defects modifier, x-linked, for neurofunctional defects OMIM:309840 modifier, x-linked, for neurofunctional defects modifier, X-linked, for Neurofunctional defects OMIM:309840 MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome Hunter syndrome hunter syndrome OMIM:309900 mucopolysaccharidosis, type 2 Hunter syndrome OMIM:309900 @@ -47310,7 +46528,6 @@ MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked, with congenital contractures and Low fingertip arches OMIM:314580 MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-linked, with congenital contractures and low fingertip arches OMIM:314580 MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym WRWF OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WRWF OMIM:314580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym Wieacker-Wolff syndrome OMIMPS:314580 Wieacker-Wolff syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Wieacker-Wolff syndrome OMIMPS:314580 MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Cervicooculoacoustic syndrome Cervicooculoacoustic syndrome cervicooculoacoustic syndrome OMIM:314600 wildervanck syndrome Cervicooculoacoustic syndrome OMIM:314600 MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Wildervanck syndrome Wildervanck syndrome wildervanck syndrome OMIM:314600 wildervanck syndrome Wildervanck syndrome OMIM:314600 MONDO:0010761 retinitis pigmentosa Y-linked oio:hasExactSynonym retinitis pigmentosa, Y-linked OMIM:400004 retinitis pigmentosa, Y-linked retinitis pigmentosa, Y-linked OMIM:400004 @@ -47510,10 +46727,8 @@ MONDO:0010991 laterality defects, autosomal dominant oio:hasExactSynonym latera MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym Ayme-Gripp syndrome Ayme-Gripp syndrome ayme-gripp syndrome OMIM:601088 ayme-gripp syndrome Ayme-Gripp syndrome OMIM:601088 MONDO:0010993 Harrod syndrome oio:hasExactSynonym Harrod syndrome Harrod syndrome harrod syndrome OMIM:601095 harrod syndrome Harrod syndrome OMIM:601095 MONDO:0010995 Charcot-Marie-Tooth disease type 1C oio:hasExactSynonym CMT1C OMIM:601098 charcot-marie-tooth disease, demyelinating, type 1c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT1C OMIM:601098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive, 1 OMIM:601104 supranuclear palsy, progressive, 1 supranuclear palsy, progressive, 1 OMIM:601104 MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP PSP psp OMIM:601104 supranuclear palsy, progressive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSP OMIM:601104 -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive supranuclear palsy, progressive Supranuclear palsy, progressive OMIMPS:601104 Supranuclear palsy, progressive supranuclear palsy, progressive OMIMPS:601104 MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDG1D OMIM:601110 congenital disorder of glycosylation, type id http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG1D OMIM:601110 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym Brugada syndrome 1 Brugada syndrome 1 brugada syndrome 1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome 1 OMIM:601144 MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym BRGDA1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRGDA1 OMIM:601144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -47780,7 +46995,6 @@ MONDO:0011274 Muenke syndrome oio:hasExactSynonym Muenke syndrome Muenke syndro MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type oio:hasExactSynonym acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, maroteaux type OMIM:602875 acromesomelic dysplasia 1 acromesomelic dysplasia, Maroteaux type OMIM:602875 MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym orofacial cleft 2 OMIM:602966 orofacial cleft 2 orofacial cleft 2 OMIM:602966 MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC2 OMIM:615560 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia 6 OMIM:603013 schizophrenia 6 schizophrenia 6 OMIM:603013 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8p-related OMIM:603013 schizophrenia 6 schizophrenia susceptibility locus, chromosome 8P-related OMIM:603013 MONDO:0011280 schizophrenia 6 oio:hasExactSynonym SCZD6 OMIM:603013 schizophrenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD6 OMIM:603013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -47829,7 +47043,6 @@ MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior MONDO:0011318 Tonoki syndrome oio:hasExactSynonym Tonoki syndrome Tonoki syndrome tonoki syndrome OMIM:603396 tonoki syndrome Tonoki syndrome OMIM:603396 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Giuffre-Tsukahara syndrome Giuffre-Tsukahara syndrome giuffre-tsukahara syndrome OMIM:603438 tsukahara syndrome Giuffre-Tsukahara syndrome OMIM:603438 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome Tsukahara syndrome OMIM:603438 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome Tsukahara syndrome OMIM:613627 MONDO:0011321 expansile bone lesions oio:hasExactSynonym expansile bone lesions OMIM:603439 expansile bone lesions expansile bone lesions OMIM:603439 MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type oio:hasExactSynonym Oroacral syndrome, Verloes-Koulischer type Oroacral syndrome, Verloes-Koulischer type oroacral syndrome, verloes-koulischer type OMIM:603446 oroacral syndrome, verloes-koulischer type Oroacral syndrome, Verloes-Koulischer type OMIM:603446 MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym FANCF OMIM:603467 fanconi anemia, complementation group f http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FANCF OMIM:603467 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -47837,7 +47050,6 @@ MONDO:0011326 citrullinemia, type II, adult-onset oio:hasExactSynonym citrullin MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease OMIM:603472 neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease OMIM:603472 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 OMIM:603516 spinocerebellar ataxia 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA10 OMIM:603516 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin oio:hasExactSynonym Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:130720 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome OMIM:603543 limb-mammary syndrome limb-mammary syndrome OMIM:603543 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, type 2 spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 @@ -47870,7 +47082,6 @@ MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities oio:has MONDO:0011358 blue nevi, familial multiple oio:hasExactSynonym blue nevi, familial multiple OMIM:603670 blue nevi, familial multiple blue nevi, familial multiple OMIM:603670 MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym acromelic frontonasal dysostosis OMIM:603671 acromelic frontonasal dysostosis acromelic frontonasal dysostosis OMIM:603671 MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011361 prostate cancer/brain cancer susceptibility oio:hasExactSynonym prostate cancer/brain cancer susceptibility OMIM:603688 prostate cancer/brain cancer susceptibility prostate cancer/brain cancer susceptibility OMIM:603688 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym Edstrom myopathy Edstrom myopathy edstrom myopathy OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure Edstrom myopathy OMIM:603689 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 @@ -47974,7 +47185,6 @@ MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplas MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym nephronophthisis 3 OMIM:604387 nephronophthisis 3 nephronophthisis 3 OMIM:604387 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPH3 NPH3 nph3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPH3 OMIM:604387 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPHP3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NPHP3 OMIM:604387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym ATLD ATLD atld OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATLD OMIM:604391 MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym Leber congenital amaurosis 4 Leber congenital amaurosis 4 leber congenital amaurosis 4 OMIM:604393 leber congenital amaurosis 4 Leber congenital amaurosis 4 OMIM:604393 MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym LCA4 OMIM:604393 leber congenital amaurosis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA4 OMIM:604393 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 @@ -48006,7 +47216,6 @@ MONDO:0011481 craniosynostosis 2 oio:hasExactSynonym CRS2 OMIM:604757 cranios MONDO:0011482 dilated cardiomyopathy 1I oio:hasExactSynonym CMD1I OMIM:604765 cardiomyopathy, dilated, 1i http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1I OMIM:604765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011483 polycystic bone disease oio:hasExactSynonym polycystic bone disease OMIM:604771 polycystic bone disease polycystic bone disease OMIM:604771 MONDO:0011485 autosomal recessive congenital ichthyosis 5 oio:hasExactSynonym ARCI5 OMIM:604777 ichthyosis, congenital, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCI5 OMIM:604777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym CMD1B OMIM:600884 cardiomyopathy, dilated, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1B OMIM:600884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym MDC1B OMIM:604801 muscular dystrophy, congenital, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDC1B OMIM:604801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym Huntington disease-like 3 Huntington disease-like 3 huntington disease-like 3 OMIM:604802 huntington disease-like 3 Huntington disease-like 3 OMIM:604802 MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym HDL3 OMIM:604802 huntington disease-like 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HDL3 OMIM:604802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -48100,7 +47309,6 @@ MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym cone-rod dystrophy 8 O MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym CORD8 OMIM:605549 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD8 OMIM:605549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011565 metabolic syndrome X oio:hasExactSynonym abdominal obesity-metabolic syndrome 1 OMIM:605552 abdominal obesity-metabolic syndrome 1 abdominal obesity-metabolic syndrome 1 OMIM:605552 MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 -MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym Abdominal obesity-metabolic syndrome OMIMPS:605552 Abdominal obesity-metabolic syndrome Abdominal obesity-metabolic syndrome OMIMPS:605552 MONDO:0011567 dilated cardiomyopathy 1K oio:hasExactSynonym CMD1K OMIM:605582 cardiomyopathy, dilated, 1k http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1K OMIM:605582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 oio:hasExactSynonym CMT2B1 OMIM:605588 charcot-marie-tooth disease, axonal, type 2b1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2B1 OMIM:605588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 oio:hasExactSynonym ARCMT2B ARCMT2B arcmt2b OMIM:605589 charcot-marie-tooth disease, axonal, type 2b2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCMT2B OMIM:605589 @@ -48144,7 +47352,6 @@ MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym birdshot chorioret MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym BSCR BSCR bscr OMIM:605808 birdshot chorioretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION BSCR OMIM:605808 MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMS4A OMIM:605809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy Nonaka myopathy nonaka myopathy OMIM:605820 nonaka myopathy Nonaka myopathy OMIM:605820 -MONDO:0011603 GNE myopathy oio:hasExactSynonym DMRV OMIM:617158 myopathy, distal, with rimmed vacuoles http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DMRV OMIM:617158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011606 baby rattle pelvis dysplasia oio:hasExactSynonym baby rattle pelvis dysplasia OMIM:605838 baby rattle pelvis dysplasia baby rattle pelvis dysplasia OMIM:605838 MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym narcolepsy 2, susceptibility to OMIM:605841 narcolepsy 2, susceptibility to narcolepsy 2, susceptibility to OMIM:605841 MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym NRCLP2 OMIM:605841 narcolepsy 2, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NRCLP2 OMIM:605841 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -48220,7 +47427,6 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDI1 CMTDI1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDI1 OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDIB OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDIB OMIM:606482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMT2GG OMIM:606483 charcot-marie-tooth disease, axonal, type 2gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2GG OMIM:606483 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMTDIA OMIM:620378 charcot-marie-tooth disease, dominant intermediate a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMTDIA OMIM:620378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011677 Megarbane syndrome oio:hasExactSynonym Megarbane syndrome Megarbane syndrome megarbane syndrome OMIM:606527 megarbane syndrome Megarbane syndrome OMIM:606527 MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym homozygous 11P15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome homozygous 11p15-p14 deletion syndrome OMIM:606528 homozygous 11p15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome OMIM:606528 MONDO:0011679 craniosynostosis syndrome, autosomal recessive oio:hasExactSynonym craniosynostosis syndrome, autosomal recessive OMIM:606529 craniosynostosis syndrome, autosomal recessive craniosynostosis syndrome, autosomal recessive OMIM:606529 @@ -48237,7 +47443,6 @@ MONDO:0011689 dyslexia, susceptibility to, 6 oio:hasExactSynonym DYX6 OMIM:60 MONDO:0011690 Camurati-Engelmann disease, type 2 oio:hasExactSynonym Camurati-Engelmann disease, type 2 Camurati-Engelmann disease, type 2 camurati-engelmann disease, type 2 OMIM:606631 camurati-engelmann disease, type 2 Camurati-Engelmann disease, type 2 OMIM:606631 MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 OMIM:606640 amyotrophic lateral sclerosis 3 amyotrophic lateral sclerosis 3 OMIM:606640 MONDO:0011693 glaucoma, normal tension, susceptibility to oio:hasExactSynonym glaucoma, normal tension, susceptibility to OMIM:606657 glaucoma, normal tension, susceptibility to glaucoma, normal tension, susceptibility to OMIM:606657 -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 OMIM:615768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym melanoma, uveal, susceptibility to, 1 OMIM:606660 melanoma, uveal, susceptibility to, 1 melanoma, uveal, susceptibility to, 1 OMIM:606660 MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym UVM1 OMIM:606660 melanoma, uveal, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION UVM1 OMIM:606660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011696 melanoma, uveal, susceptibility to, 2 oio:hasExactSynonym melanoma, uveal, susceptibility to, 2 OMIM:606661 melanoma, uveal, susceptibility to, 2 melanoma, uveal, susceptibility to, 2 OMIM:606661 @@ -48323,9 +47528,6 @@ MONDO:0011765 multiple epiphyseal dysplasia type 5 oio:hasExactSynonym EDM5 O MONDO:0011768 myasthenia gravis with thymus hyperplasia oio:hasExactSynonym myasthenia gravis with thymus hyperplasia OMIM:607085 myasthenia gravis with thymus hyperplasia myasthenia gravis with thymus hyperplasia OMIM:607085 MONDO:0011770 aortic aneurysm, familial thoracic 2 oio:hasExactSynonym aortic aneurysm, familial thoracic 2 OMIM:607087 aortic aneurysm, familial thoracic 2 aortic aneurysm, familial thoracic 2 OMIM:607087 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D OMIM:607091 congenital disorder of glycosylation, type iid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDG2D OMIM:607091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia OMIM:607095 anauxetic dysplasia 1 anauxetic dysplasia OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 spondylometaepiphyseal dysplasia, Menger type OMIM:607095 MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia anauxetic dysplasia OMIMPS:607095 MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome cinca syndrome OMIM:607115 cinca syndrome CINCA syndrome OMIM:607115 MONDO:0011776 CINCA syndrome oio:hasExactSynonym chronic neurologic cutaneous and articular syndrome OMIM:607115 cinca syndrome chronic neurologic cutaneous and articular syndrome OMIM:607115 @@ -48368,7 +47570,6 @@ MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 oio:hasExactSynonym SLEH1 OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLEH1 OMIM:607279 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011808 cataract 27 oio:hasExactSynonym cataract 27 OMIM:607304 cataract 27 cataract 27 OMIM:607304 MONDO:0011808 cataract 27 oio:hasExactSynonym CTRCT27 OMIM:607304 cataract 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTRCT27 OMIM:607304 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym HGPPS HGPPS hgpps OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HGPPS OMIM:607313 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym SCAR4 OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR4 OMIM:607317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym DR syndrome DR syndrome dr syndrome OMIM:607323 duane-radial ray syndrome DR syndrome OMIM:607323 MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym Duane anomaly with radial ray abnormalities and deafness Duane anomaly with radial ray abnormalities and deafness duane anomaly with radial ray abnormalities and deafness OMIM:607323 duane-radial ray syndrome Duane anomaly with radial ray abnormalities and deafness OMIM:607323 @@ -48391,7 +47592,6 @@ MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym autism, suscepti MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym AUTS8 OMIM:607373 autism, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AUTS8 OMIM:607373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011825 streptococcus, group A, severity of infection by oio:hasExactSynonym streptococcus, group A, severity of infection by streptococcus, group A, severity of infection by streptococcus, group a, severity of infection by OMIM:607395 streptococcus, group a, severity of infection by streptococcus, group A, severity of infection by OMIM:607395 MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 glucocorticoid deficiency 2 OMIM:607398 -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDA OMIM:607411 MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent ductus arteriosus OMIMPS:607411 Patent ductus arteriosus patent ductus arteriosus OMIMPS:607411 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym coenzyme Q10 deficiency, primary, 1 OMIM:607426 coenzyme Q10 deficiency, primary, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL coenzyme Q10 deficiency, primary, 1 OMIM:607426 MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 @@ -48416,7 +47616,6 @@ MONDO:0011850 migraine with or without aura, susceptibility to, 5 oio:hasExactSy MONDO:0011851 migraine with or without aura, susceptibility to, 6 oio:hasExactSynonym migraine with or without aura, susceptibility to, 6 OMIM:607516 migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to, 6 OMIM:607516 MONDO:0011853 Camptosynpolydactyly, complex oio:hasExactSynonym camptosynpolydactyly, complex OMIM:607539 camptosynpolydactyly, complex camptosynpolydactyly, complex OMIM:607539 MONDO:0011854 secretory diarrhea, myopathy, and deafness oio:hasExactSynonym secretory diarrhea, myopathy, and deafness OMIM:607540 secretory diarrhea, myopathy, and deafness secretory diarrhea, myopathy, and deafness OMIM:607540 -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym CGD2 OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD2 OMIM:233710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym Avellino corneal dystrophy Avellino corneal dystrophy avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type Avellino corneal dystrophy OMIM:607541 MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type avellino corneal dystrophy OMIM:607541 MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym combined granular-lattice corneal dystrophy OMIM:607541 corneal dystrophy, avellino type combined granular-lattice corneal dystrophy OMIM:607541 @@ -48433,7 +47632,6 @@ MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym leth MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym LCCS2 OMIM:607598 lethal congenital contracture syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS2 OMIM:607598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym epidermolysis bullosa simplex superficialis OMIM:607600 epidermolysis bullosa simplex superficialis epidermolysis bullosa simplex superficialis OMIM:607600 MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym EBSS OMIM:607600 epidermolysis bullosa simplex superficialis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EBSS OMIM:607600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym AEI AEI aei OMIM:607602 ichthyosis, annular epidermolytic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION AEI OMIM:607602 MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym ichthyosis, annular epidermolytic ichthyosis, annular epidermolytic Ichthyosis, annular epidermolytic OMIMPS:607602 Ichthyosis, annular epidermolytic ichthyosis, annular epidermolytic OMIMPS:607602 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym Griscelli syndrome with hemophagocytic syndrome Griscelli syndrome with hemophagocytic syndrome griscelli syndrome with hemophagocytic syndrome OMIM:607624 griscelli syndrome, type 2 Griscelli syndrome with hemophagocytic syndrome OMIM:607624 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym PAID syndrome PAID syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 PAID syndrome OMIM:607624 @@ -48464,7 +47662,6 @@ MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E O MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 11, autosomal dominant, susceptibility to Parkinson disease 11, autosomal dominant, susceptibility to parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to Parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym HLD7 OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HLD7 OMIM:607694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome tosti syndrome OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 Tosti syndrome OMIM:607721 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym porokeratosis 4, disseminated superficial actinic type OMIM:607728 porokeratosis 4, disseminated superficial actinic type porokeratosis 4, disseminated superficial actinic type OMIM:607728 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym POROK4 OMIM:607728 porokeratosis 4, disseminated superficial actinic type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION POROK4 OMIM:607728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -48493,7 +47690,6 @@ MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSyn MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSynonym nonimmune chronic idiopathic neutropenia of adults OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults nonimmune chronic idiopathic neutropenia of adults OMIM:607847 MONDO:0011923 osteoarthritis susceptibility 3 oio:hasExactSynonym osteoarthritis susceptibility 3 OMIM:607850 osteoarthritis susceptibility 3 osteoarthritis susceptibility 3 OMIM:607850 MONDO:0011924 panic disorder 2 oio:hasExactSynonym panic disorder 2 OMIM:607853 panic disorder 2 panic disorder 2 OMIM:607853 -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym CMD1A OMIM:115200 cardiomyopathy, dilated, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1A OMIM:115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym MDC1A OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDC1A OMIM:607855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym psoriasis 9, susceptibility to OMIM:607857 psoriasis 9, susceptibility to psoriasis 9, susceptibility to OMIM:607857 MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym PSORS9 OMIM:607857 psoriasis 9, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSORS9 OMIM:607857 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -48771,7 +47967,6 @@ MONDO:0012159 lung cancer susceptibility 1 oio:hasExactSynonym LNCR1 OMIM:608 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 OMIM:608970 macular dystrophy, patterned, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDPT2 OMIM:608970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym IMD104 OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD104 OMIM:608971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0012164 Meacham syndrome oio:hasExactSynonym Meacham syndrome Meacham syndrome meacham syndrome OMIM:608978 meacham syndrome Meacham syndrome OMIM:608978 MONDO:0012165 BNAR syndrome oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies OMIM:608980 MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA ADSA adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION ADSA OMIM:608984 @@ -49075,9 +48270,6 @@ MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym esophagitis, eos MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym EOE1 OMIM:610247 esophagitis, eosinophilic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOE1 OMIM:610247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 OMIM:610250 spastic paraplegia 31, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 OMIM:610250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012454 alcohol sensitivity, acute oio:hasExactSynonym alcohol sensitivity, acute OMIM:610251 alcohol sensitivity, acute alcohol sensitivity, acute OMIM:610251 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome OMIM:610253 kleefstra syndrome 1 9Q subtelomeric deletion syndrome OMIM:610253 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q- syndrome 9Q- syndrome 9q- syndrome OMIM:610253 kleefstra syndrome 1 9Q- syndrome OMIM:610253 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym chromosome 9Q34.3 deletion syndrome chromosome 9Q34.3 deletion syndrome chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 chromosome 9Q34.3 deletion syndrome OMIM:610253 MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome OMIMPS:610253 MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary OMIM:610256 anterior segment dysgenesis 2 aphakia, congenital primary OMIM:610256 MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 oio:hasExactSynonym pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 @@ -49104,7 +48296,6 @@ MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym orofacial cleft 9 OMIM:61 MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym OFC9 OMIM:610361 orofacial cleft 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFC9 OMIM:610361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric anendocrinosis OMIM:610370 diarrhea 4, malabsorptive, congenital enteric anendocrinosis OMIM:610370 MONDO:0012480 diabetes mellitus, transient neonatal, 2 oio:hasExactSynonym diabetes mellitus, transient neonatal, 2 OMIM:610374 diabetes mellitus, transient neonatal, 2 diabetes mellitus, transient neonatal, 2 OMIM:610374 -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS OMIM:260920 hyper-igd syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIDS OMIM:260920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria OMIM:610377 mevalonic aciduria mevalonic aciduria OMIM:610377 MONDO:0012482 West Nile virus, susceptibility to oio:hasExactSynonym West Nile virus, susceptibility to West Nile virus, susceptibility to west nile virus, susceptibility to OMIM:610379 west nile virus, susceptibility to West Nile virus, susceptibility to OMIM:610379 MONDO:0012483 cone-rod dystrophy 11 oio:hasExactSynonym cone-rod dystrophy 11 OMIM:610381 cone-rod dystrophy 11 cone-rod dystrophy 11 OMIM:610381 @@ -49517,7 +48708,6 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym retinitis pigmentosa 29 OMIM:612165 retinitis pigmentosa 29 retinitis pigmentosa 29 OMIM:612165 MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym RP29 OMIM:612165 retinitis pigmentosa 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP29 OMIM:612165 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012814 diastasis recti and weakness of the linea alba oio:hasExactSynonym diastasis recti and weakness of the linea alba OMIM:612198 diastasis recti and weakness of the linea alba diastasis recti and weakness of the linea alba OMIM:612198 -MONDO:0012815 Coats plus syndrome oio:hasExactSynonym CRMCC CRMCC crmcc OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRMCC OMIM:612199 MONDO:0012815 Coats plus syndrome oio:hasExactSynonym cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcfications and cysts Cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 MONDO:0012816 atrial fibrillation, familial, 6 oio:hasExactSynonym atrial fibrillation, familial, 6 OMIM:612201 atrial fibrillation, familial, 6 atrial fibrillation, familial, 6 OMIM:612201 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma ewing sarcoma OMIM:612219 ewing sarcoma Ewing sarcoma OMIM:612219 @@ -49619,7 +48809,6 @@ MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExa MONDO:0012881 major affective disorder 7 oio:hasExactSynonym major affective disorder 7 OMIM:612371 major affective disorder 7 major affective disorder 7 OMIM:612371 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym major affective disorder 9 OMIM:612372 major affective disorder 9 major affective disorder 9 OMIM:612372 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym MAFD9 OMIM:612372 major affective disorder 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAFD9 OMIM:612372 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym acute promyelocytic leukemia OMIM:612376 acute promyelocytic leukemia acute promyelocytic leukemia OMIM:612376 MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 @@ -49652,7 +48841,6 @@ MONDO:0012908 complement component 6 deficiency oio:hasExactSynonym complement MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability oio:hasExactSynonym skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym age-related hearing impairment 1 OMIM:612448 age-related hearing impairment 1 age-related hearing impairment 1 OMIM:612448 MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym ARHI1 OMIM:612448 age-related hearing impairment 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARHI1 OMIM:612448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance albright hereditary osteodystrophy with multiple hormone resistance OMIM:103580 pseudohypoparathyroidism, type 1a Albright Hereditary osteodystrophy with multiple hormone resistance OMIM:103580 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism OMIM:612463 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pseudopseudohypoparathyroidism OMIM:612463 MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 wagro syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym chromosome 1q21.1 duplication syndrome OMIM:612475 chromosome 1q21.1 duplication syndrome chromosome 1q21.1 duplication syndrome OMIM:612475 @@ -49762,7 +48950,6 @@ MONDO:0013002 cone-rod dystrophy 9 oio:hasExactSynonym CORD9 OMIM:612775 cone MONDO:0013004 hypotonia, seizures, and precocious puberty oio:hasExactSynonym hypotonia, seizures, and precocious puberty OMIM:612777 hypotonia, seizures, and precocious puberty hypotonia, seizures, and precocious puberty OMIM:612777 MONDO:0013005 EAST syndrome oio:hasExactSynonym EAST syndrome EAST syndrome east syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance EAST syndrome OMIM:612780 MONDO:0013005 EAST syndrome oio:hasExactSynonym sesame syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance sesame syndrome OMIM:612780 -MONDO:0013006 isolated growth hormone deficiency type IB oio:hasExactSynonym dwarfism of Sindh dwarfism of Sindh dwarfism of sindh OMIM:618157 isolated growth hormone deficiency, type 4 dwarfism of Sindh OMIM:618157 MONDO:0013009 Megarbane-Jalkh syndrome oio:hasExactSynonym Megarbane-Jalkh syndrome Megarbane-Jalkh syndrome megarbane-jalkh syndrome OMIM:612785 megarbane-jalkh syndrome Megarbane-Jalkh syndrome OMIM:612785 MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym atrial septal defect 5 OMIM:612794 atrial septal defect 5 atrial septal defect 5 OMIM:612794 MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym ASD5 OMIM:612794 atrial septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASD5 OMIM:612794 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -49932,19 +49119,15 @@ MONDO:0013146 Brugada syndrome 7 oio:hasExactSynonym BRGDA7 OMIM:613120 bruga MONDO:0013147 dilated cardiomyopathy 1CC oio:hasExactSynonym CMD1CC OMIM:613122 cardiomyopathy, dilated, 1cc http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1CC OMIM:613122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym Brugada syndrome 8 Brugada syndrome 8 brugada syndrome 8 OMIM:613123 brugada syndrome 8 Brugada syndrome 8 OMIM:613123 MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym BRGDA8 OMIM:613123 brugada syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BRGDA8 OMIM:613123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym dopamine transporter deficiency syndrome OMIM:613135 parkinsonism-dystonia 1, infantile-onset dopamine transporter deficiency syndrome OMIM:613135 -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PKDYS PKDYS pkdys OMIM:613135 parkinsonism-dystonia 1, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKDYS OMIM:613135 MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PARKINSONISM-dystonia, infantile PARKINSONISM-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile PARKINSONISM-dystonia, infantile OMIMPS:613135 MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym parkinsonism-dystonia, infantile parkinsonism-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parkinsonism-dystonia, infantile OMIMPS:613135 MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym choroidal dystrophy, central areolar, 3 OMIM:613144 choroidal dystrophy, central areolar, 3 choroidal dystrophy, central areolar, 3 OMIM:613144 MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym CACD3 OMIM:613144 choroidal dystrophy, central areolar, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CACD3 OMIM:613144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym SLEB14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SLEB14 OMIM:613145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease 28, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive inflammatory bowel disease 28, autosomal recessive OMIM:613148 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym IBD28 OMIM:613148 inflammatory bowel disease 28, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IBD28 OMIM:613148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related walker-warburg syndrome or muscle-eye-brain disease, pomt2-related OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related OMIM:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym MDDGA2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDDGA2 OMIM:613150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50096,7 +49279,6 @@ MONDO:0013306 combined oxidative phosphorylation defect type 7 oio:hasExactSynon MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 oio:hasExactSynonym myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 MONDO:0013308 CBL-related disorder oio:hasExactSynonym Cbl syndrome Cbl syndrome cbl syndrome OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Cbl syndrome OMIM:613563 MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome oio:hasExactSynonym chromosome 2p12-p11.2 deletion syndrome OMIM:613564 chromosome 2p12-p11.2 deletion syndrome chromosome 2p12-p11.2 deletion syndrome OMIM:613564 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym EDSS1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSS1 OMIM:613573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym retinitis pigmentosa 55 OMIM:613575 retinitis pigmentosa 55 retinitis pigmentosa 55 OMIM:613575 MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym RP55 OMIM:613575 retinitis pigmentosa 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RP55 OMIM:613575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym EDSS2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSS2 OMIM:613576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50129,8 +49311,6 @@ MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B oio:hasExactS MONDO:0013339 dilated cardiomyopathy 1GG oio:hasExactSynonym CMD1GG OMIM:613642 cardiomyopathy, dilated, 1gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD1GG OMIM:613642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, autosomal dominant, susceptibility to parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 MONDO:0013342 hereditary spastic paraplegia 48 oio:hasExactSynonym SPG48 OMIM:613647 spastic paraplegia 48, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG48 OMIM:613647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 C1q deficiency OMIM:613652 -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL C1Q deficiency OMIM:613652 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency OMIMPS:613652 C1q deficiency C1q deficiency OMIMPS:613652 MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency C1q deficiency OMIMPS:613652 C1q deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL C1Q deficiency OMIMPS:613652 MONDO:0013345 d-2-hydroxyglutaric aciduria 2 oio:hasExactSynonym d-2-hydroxyglutaric aciduria 2 OMIM:613657 d-2-hydroxyglutaric aciduria 2 d-2-hydroxyglutaric aciduria 2 OMIM:613657 @@ -50143,10 +49323,8 @@ MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym N MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Van Asperen syndrome Van Asperen syndrome van asperen syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb Van Asperen syndrome OMIM:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-mb OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb chromosome 17q11.2 deletion syndrome, 1.4-MB OMIM:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis 1 microdeletion syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb neurofibromatosis 1 microdeletion syndrome OMIM:613675 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microduplication syndrome NF1 microduplication syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb NF1 microduplication syndrome OMIM:618874 MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym Seckel syndrome 4 Seckel syndrome 4 seckel syndrome 4 OMIM:613676 seckel syndrome 4 Seckel syndrome 4 OMIM:613676 MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym SCKL4 OMIM:613676 seckel syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCKL4 OMIM:613676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013359 familial hyperaldosteronism type III oio:hasExactSynonym FH3 FH3 fh3 OMIM:603776 hypercholesterolemia, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FH3 OMIM:603776 MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia type 2 OMIM:613678 brachyolmia type 2 brachyolmia type 2 OMIM:613678 MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia, Maroteaux type brachyolmia, Maroteaux type brachyolmia, maroteaux type OMIM:613678 brachyolmia type 2 brachyolmia, Maroteaux type OMIM:613678 MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oio:hasExactSynonym Beaulieu-Boycott-Innes syndrome Beaulieu-Boycott-Innes syndrome beaulieu-boycott-innes syndrome OMIM:613680 beaulieu-boycott-innes syndrome Beaulieu-Boycott-Innes syndrome OMIM:613680 @@ -50476,7 +49654,6 @@ MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 oio:hasExactSy MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O oio:hasExactSynonym CMT2O OMIM:614228 charcot-marie-tooth disease, axonal, type 2o http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2O OMIM:614228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 oio:hasExactSynonym SCAR11 OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR11 OMIM:614229 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013646 chromosome 8q21.11 deletion syndrome oio:hasExactSynonym chromosome 8q21.11 deletion syndrome OMIM:614230 chromosome 8q21.11 deletion syndrome chromosome 8q21.11 deletion syndrome OMIM:614230 -MONDO:0013648 familial progressive hyperpigmentation oio:hasExactSynonym melanosis universalis hereditaria OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive melanosis universalis hereditaria OMIM:145250 MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym hypotrichosis 9 OMIM:614237 hypotrichosis 9 hypotrichosis 9 OMIM:614237 MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym HYPT9 hypt9 HYPT9 OMIM:614237 hypotrichosis 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYPT9 OMIM:614237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013650 hypotrichosis 10 oio:hasExactSynonym hypotrichosis 10 OMIM:614238 hypotrichosis 10 hypotrichosis 10 OMIM:614238 @@ -50491,7 +49668,6 @@ MONDO:0013659 microcephaly-capillary malformation syndrome oio:hasExactSynonym MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy oio:hasExactSynonym arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, perthes disease, and upward gaze palsy OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy arthrogryposis, Perthes disease, and upward gaze palsy OMIM:614262 MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym combined malonic and methylmalonic aciduria OMIM:614265 combined malonic and methylmalonic aciduria combined malonic and methylmalonic aciduria OMIM:614265 MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym CMAMMA OMIM:614265 combined malonic and methylmalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMAMMA OMIM:614265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE OMIM:130710 emphysema, congenital lobar http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLE OMIM:130710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013662 Barrett esophagus oio:hasExactSynonym Barrett esophagus Barrett esophagus barrett esophagus OMIM:614266 barrett esophagus Barrett esophagus OMIM:614266 MONDO:0013663 platelet-activating factor acetylhydrolase deficiency oio:hasExactSynonym platelet-activating factor acetylhydrolase deficiency OMIM:614278 platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency OMIM:614278 MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 @@ -50621,7 +49797,6 @@ MONDO:0013785 intellectual disability, autosomal recessive 34 oio:hasExactSynony MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 retinal dystrophy with early macular involvement OMIM:614500 MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym cone-rod dystrophy 16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy 16 OMIM:614500 MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym CORD16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CORD16 OMIM:614500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 retinal dystrophy with early macular involvement OMIM:616502 MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 MONDO:0013788 Usher syndrome type 3B oio:hasExactSynonym USH3B OMIM:614504 usher syndrome, type 3b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION USH3B OMIM:614504 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50815,7 +49990,6 @@ MONDO:0013976 ectodermal dysplasia 9, hair/nail type oio:hasExactSynonym ectode MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSynonym COXPD13 OMIM:614932 combined oxidative phosphorylation deficiency 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD13 OMIM:614932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym CILD19 OMIM:614935 ciliary dyskinesia, primary, 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CILD19 OMIM:614935 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013980 palmoplantar keratoderma, punctate type ib oio:hasExactSynonym PPKP1B OMIM:614936 palmoplantar keratoderma, punctate type 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPKP1B OMIM:614936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013981 myoclonus, familial oio:hasExactSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 myoclonus, familial cortical OMIM:614937 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 MONDO:0013986 combined oxidative phosphorylation defect type 14 oio:hasExactSynonym COXPD14 OMIM:614946 combined oxidative phosphorylation deficiency 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD14 OMIM:614946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50830,7 +50004,6 @@ MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 OMIM MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym Joubert syndrome 20 Joubert syndrome 20 joubert syndrome 20 OMIM:614970 joubert syndrome 20 Joubert syndrome 20 OMIM:614970 MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym JBTS20 OMIM:614970 joubert syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JBTS20 OMIM:614970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 oio:hasExactSynonym cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome setleis syndrome OMIM:227260 focal facial dermal dysplasia 3, setleis type Setleis Syndrome OMIM:227260 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, brauer-setleis type OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type focal facial dermal dysplasia 2, Brauer-Setleis type OMIM:614973 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FFDD2 OMIM:614973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013997 focal facial dermal dysplasia type IV oio:hasExactSynonym focal facial dermal dysplasia 4 OMIM:614974 focal facial dermal dysplasia 4 focal facial dermal dysplasia 4 OMIM:614974 @@ -50922,7 +50095,6 @@ MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oio:hasExactSynonym MSPC OMIM:615225 palmoplantar carcinoma, multiple self-healing http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSPC OMIM:615225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014090 polydactyly, postaxial, type A6 oio:hasExactSynonym polydactyly, postaxial, type A6 polydactyly, postaxial, type A6 polydactyly, postaxial, type a6 OMIM:615226 polydactyly, postaxial, type a6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL polydactyly, postaxial, type A6 OMIM:615226 MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B oio:hasExactSynonym MC5DN4B OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MC5DN4B OMIM:615228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 duplication syndrome, 362-kb OMIM:613959 schizophrenia 16 chromosome 7q36.3 Duplication syndrome, 362-Kb OMIM:613959 MONDO:0014092 schizophrenia 18 oio:hasExactSynonym schizophrenia 18 OMIM:615232 schizophrenia 18 schizophrenia 18 OMIM:615232 MONDO:0014092 schizophrenia 18 oio:hasExactSynonym SCZD18 OMIM:615232 schizophrenia 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCZD18 OMIM:615232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014093 retinitis pigmentosa 66 oio:hasExactSynonym retinitis pigmentosa 66 OMIM:615233 retinitis pigmentosa 66 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa 66 OMIM:615233 @@ -51006,7 +50178,6 @@ MONDO:0014173 microcephaly 11, primary, autosomal recessive oio:hasExactSynonym MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 oio:hasExactSynonym renal-hepatic-pancreatic dysplasia 2 OMIM:615415 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL renal-hepatic-pancreatic dysplasia 2 OMIM:615415 MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM:615418 MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym MTDPS12B OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MTDPS12B OMIM:615418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym IHPRF IHPRF ihprf OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION IHPRF OMIM:615419 MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies Hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 MONDO:0014177 myopia 22, autosomal dominant oio:hasExactSynonym myopia 22, autosomal dominant OMIM:615420 myopia 22, autosomal dominant myopia 22, autosomal dominant OMIM:615420 MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 oio:hasExactSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 OMIM:615422 @@ -51517,7 +50688,6 @@ MONDO:0014677 achromatopsia 7 oio:hasExactSynonym ACHM7 OMIM:616517 achromato MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym intellectual developmental disorder, autosomal dominant 39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 intellectual developmental disorder, autosomal dominant 39 OMIM:616521 MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym MRD39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRD39 OMIM:616521 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis oio:hasExactSynonym polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 MONDO:0014681 thyroid cancer, nonmedullary, 4 oio:hasExactSynonym thyroid cancer, nonmedullary, 4 OMIM:616534 thyroid cancer, nonmedullary, 4 thyroid cancer, nonmedullary, 4 OMIM:616534 MONDO:0014682 thyroid cancer, nonmedullary, 5 oio:hasExactSynonym thyroid cancer, nonmedullary, 5 OMIM:616535 thyroid cancer, nonmedullary, 5 thyroid cancer, nonmedullary, 5 OMIM:616535 MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 OMIM:616540 epilepsy, progressive myoclonic, 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM9 OMIM:616540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -51971,7 +51141,6 @@ MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym Harel-Yoon syndrome Harel MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym HAYOS OMIM:617183 harel-yoon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HAYOS OMIM:617183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym MTDPS12A OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MTDPS12A OMIM:617184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym PEBEL PEBEL pebel OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PEBEL OMIM:617186 MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym spermatogenic failure 16 OMIM:617187 spermatogenic failure 16 spermatogenic failure 16 OMIM:617187 MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym SPGF16 OMIM:617187 spermatogenic failure 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF16 OMIM:617187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -52005,7 +51174,6 @@ MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:ha MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2z OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 muscular dystrophy, limb-girdle, type 2Z OMIM:617232 MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym myoclonus, intractable, neonatal OMIM:617235 myoclonus, intractable, neonatal myoclonus, intractable, neonatal OMIM:617235 MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym NEIMY OMIM:617235 myoclonus, intractable, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NEIMY OMIM:617235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym CRDHL CRDHL crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRDHL OMIM:617236 MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cone-rod dystrophy and hearing loss OMIMPS:617236 MONDO:0014981 immunodeficiency 49 oio:hasExactSynonym IMD49 OMIM:617237 immunodeficiency 49, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD49 OMIM:617237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014982 myopia 25, autosomal dominant oio:hasExactSynonym myopia 25, autosomal dominant OMIM:617238 myopia 25, autosomal dominant myopia 25, autosomal dominant OMIM:617238 @@ -52091,56 +51259,29 @@ MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive Muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL arthrogryposis multiplex congenita OMIMPS:617468 MONDO:0015229 Bardet-Biedl syndrome oio:hasExactSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bardet-Biedl syndrome OMIMPS:209900 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Aase syndrome Aase syndrome aase syndrome OMIM:105650 diamond-blackfan anemia 1 Aase syndrome OMIM:105650 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 erythrogenesis imperfecta OMIM:105650 -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DBA OMIM:105650 MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia OMIMPS:105650 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Diamond-Blackfan anemia OMIMPS:105650 -MONDO:0015263 Brugada syndrome oio:hasExactSynonym right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, st segment elevation, and sudden death syndrome OMIM:601144 brugada syndrome 1 right bundle branch block, ST segment elevation, and sudden death syndrome OMIM:601144 -MONDO:0015263 Brugada syndrome oio:hasExactSynonym sudden unexplained nocturnal death syndrome OMIM:601144 brugada syndrome 1 sudden unexplained nocturnal death syndrome OMIM:601144 MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome OMIMPS:601144 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome OMIMPS:601144 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome ODED syndrome oded syndrome OMIM:164280 feingold syndrome 1 ODED syndrome OMIM:164280 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 feingold syndrome 1 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 -MONDO:0015267 Feingold syndrome oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym butyrylcholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL butyrylcholinesterase deficiency OMIM:617936 -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC OMIM:163000 capillary malformations, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMC OMIM:163000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym familial candidiasis familial candidiasis Familial candidiasis OMIMPS:114580 Familial candidiasis familial candidiasis OMIMPS:114580 -MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 CFC syndrome OMIM:115150 MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL cardiofaciocutaneous syndrome OMIMPS:115150 MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym Nf1 Microduplication Syndrome Nf1 Microduplication Syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb Nf1 Microduplication Syndrome OMIM:618874 MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym HMN 5A HMN 5A hmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 HMN 5A OMIM:600794 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym dHMN 5A dHMN 5A dhmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 dHMN 5A OMIM:600794 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym indifference to pain, Congenital, autosomal recessive indifference to pain, Congenital, autosomal recessive indifference to pain, congenital, autosomal recessive OMIM:243000 indifference to pain, congenital, autosomal recessive indifference to pain, Congenital, autosomal recessive OMIM:243000 -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP OMIM:243000 indifference to pain, congenital, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIP OMIM:243000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy OMIMPS:162400 Hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy OMIMPS:162400 -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD OFD ofd OMIM:607278 osteofibrous dysplasia, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD OMIM:607278 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome OMIMPS:311200 Orofaciodigital syndrome orofaciodigital syndrome OMIMPS:311200 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym Goldenhar syndrome Goldenhar syndrome goldenhar syndrome OMIM:164210 craniofacial microsomia 1 Goldenhar syndrome OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym OAV dysplasia OAV dysplasia oav dysplasia OMIM:164210 craniofacial microsomia 1 OAV dysplasia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym hemifacial microsomia OMIM:164210 craniofacial microsomia 1 hemifacial microsomia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral dysplasia OMIM:164210 craniofacial microsomia 1 oculoauriculovertebral dysplasia OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral spectrum OMIM:164210 craniofacial microsomia 1 oculoauriculovertebral spectrum OMIM:164210 -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 desbuquois syndrome OMIM:251450 -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia OMIMPS:251450 Desbuquois dysplasia Desbuquois dysplasia OMIMPS:251450 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 fifth digit syndrome OMIM:135900 -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome Coffin-Siris syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome OMIM:135900 MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Coffin-Siris syndrome OMIMPS:135900 MONDO:0015486 keratoconus oio:hasExactSynonym keratoconus keratoconus Keratoconus OMIMPS:148300 Keratoconus keratoconus OMIMPS:148300 -MONDO:0015526 cold-induced sweating syndrome oio:hasExactSynonym Sohar-Crisponi syndrome Sohar-Crisponi syndrome sohar-crisponi syndrome OMIM:272430 crisponi/cold-induced sweating syndrome 1 Sohar-Crisponi syndrome OMIM:272430 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym Van Esch-O'Driscoll syndrome Van Esch-O'Driscoll syndrome van esch-o'driscoll syndrome OMIM:301030 van esch-o'driscoll syndrome Van Esch-O'Driscoll syndrome OMIM:301030 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, x-linked, syndromic, van esch-o'driscoll type OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type OMIM:301030 MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VEODS OMIM:301030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b peroneal muscular atrophy OMIM:118200 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease OMIMPS:118220 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Charcot-Marie-Tooth disease OMIMPS:118220 MONDO:0015643 photosensitive epilepsy oio:hasExactSynonym photoparoxysmal response photoparoxysmal response Photoparoxysmal response OMIMPS:132100 Photoparoxysmal response photoparoxysmal response OMIMPS:132100 MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency oio:hasExactSynonym vitamin K-dependent clotting factors, combined deficiency of vitamin K-dependent clotting factors, combined deficiency of Vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 White sponge nevus of Cannon OMIM:193900 -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus of Cannon white sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 white sponge nevus of Cannon OMIM:193900 MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus white sponge nevus White sponge nevus OMIMPS:193900 White sponge nevus white sponge nevus OMIMPS:193900 MONDO:0015762 progressive familial intrahepatic cholestasis oio:hasExactSynonym cholestasis, progressive familial intrahepatic cholestasis, progressive familial intrahepatic Cholestasis, progressive familial intrahepatic OMIMPS:211600 Cholestasis, progressive familial intrahepatic cholestasis, progressive familial intrahepatic OMIMPS:211600 -MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 chondrodysplasia punctata, rhizomelic form OMIM:215100 MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata OMIMPS:215100 Rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL rhizomelic chondrodysplasia punctata OMIMPS:215100 MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita dyskeratosis congenita Dyskeratosis congenita OMIMPS:127550 Dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL dyskeratosis congenita OMIMPS:127550 MONDO:0015827 distal renal tubular acidosis oio:hasExactSynonym distal renal tubular acidosis distal renal tubular acidosis Distal renal tubular acidosis OMIMPS:179800 Distal renal tubular acidosis distal renal tubular acidosis OMIMPS:179800 @@ -52155,23 +51296,18 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia OMIMPS:305620 Frontometaphyseal dysplasia frontometaphyseal dysplasia OMIMPS:305620 MONDO:0015977 agammaglobulinemia oio:hasExactSynonym agammaglobulinemia agammaglobulinemia Agammaglobulinemia OMIMPS:601495 Agammaglobulinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL agammaglobulinemia OMIMPS:601495 -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym cone-rod retinal dystrophy OMIM:120970 cone-rod dystrophy 2 cone-rod retinal dystrophy OMIM:120970 MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynonym pigmented nodular adrenocortical disease, primary pigmented nodular adrenocortical disease, primary Pigmented nodular adrenocortical disease, primary OMIMPS:610489 Pigmented nodular adrenocortical disease, primary pigmented nodular adrenocortical disease, primary OMIMPS:610489 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym EDS 6 EDS 6 eds 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 EDS 6 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 6 Ehlers-Danlos syndrome, type 6 ehlers-danlos syndrome, type 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, type 6 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym nevo syndrome OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED nevo syndrome OMIM:225400 MONDO:0016027 benign neonatal seizures oio:hasExactSynonym seizures, benign familial neonatal seizures, benign familial neonatal Seizures, benign familial neonatal OMIMPS:121200 Seizures, benign familial neonatal seizures, benign familial neonatal OMIMPS:121200 -MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Brachmann-de Lange syndrome Brachmann-de Lange syndrome brachmann-de lange syndrome OMIM:122470 cornelia lange lange syndrome 1 Brachmann-de Lange syndrome OMIM:122470 MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Cornelia de Lange syndrome OMIMPS:122470 Cornelia de Lange syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Cornelia de Lange syndrome OMIMPS:122470 -MONDO:0016063 Cowden disease oio:hasExactSynonym multiple hamartoma syndrome OMIM:158350 cowden syndrome 1 multiple hamartoma syndrome OMIM:158350 MONDO:0016063 Cowden disease oio:hasExactSynonym Cowden disease OMIMPS:158350 Cowden disease Cowden disease OMIMPS:158350 MONDO:0016073 syndromic microphthalmia oio:hasExactSynonym microphthalmia, syndromic microphthalmia, syndromic Microphthalmia, syndromic OMIMPS:309800 Microphthalmia, syndromic microphthalmia, syndromic OMIMPS:309800 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym SCA7 OMIM:164500 spinocerebellar ataxia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA7 OMIM:164500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym spastic quadriplegic cerebral palsy spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy OMIMPS:612900 Spastic quadriplegic cerebral palsy spastic quadriplegic cerebral palsy OMIMPS:612900 MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym episodic ataxia episodic ataxia Episodic ataxia OMIMPS:160120 Episodic ataxia episodic ataxia OMIMPS:160120 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC OMIM:300200 adrenal hypoplasia, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHC OMIM:300200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood alternating hemiplegia of childhood Alternating hemiplegia of childhood OMIMPS:104290 Alternating hemiplegia of childhood alternating hemiplegia of childhood OMIMPS:104290 -MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 MONDO:0016293 congenital stationary night blindness oio:hasExactSynonym night blindness, congenital stationary night blindness, congenital stationary Night blindness, congenital stationary OMIMPS:310500 Night blindness, congenital stationary night blindness, congenital stationary OMIMPS:310500 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym Hirschsprung disease with type d brachydactyly Hirschsprung disease with type d brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly Hirschsprung disease with type d brachydactyly OMIM:306980 @@ -52184,37 +51320,21 @@ MONDO:0016381 hypertrichosis lanuginosa congenita oio:hasExactSynonym hypertric MONDO:0016390 familial hypoparathyroidism oio:hasExactSynonym hypoparathyroidism, familial hypoparathyroidism, familial Hypoparathyroidism, familial OMIMPS:146200 Hypoparathyroidism, familial hypoparathyroidism, familial OMIMPS:146200 MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome OMIMPS:609322 Rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome OMIMPS:609322 MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym aneurysm, intracranial berry aneurysm, intracranial berry Aneurysm, intracranial berry OMIMPS:105800 Aneurysm, intracranial berry aneurysm, intracranial berry OMIMPS:105800 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Kabuki make-up syndrome Kabuki make-up syndrome kabuki make-up syndrome OMIM:147920 kabuki syndrome 1 Kabuki make-up syndrome OMIM:147920 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 Niikawa-Kuroki syndrome OMIM:147920 -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym KMS KMS kms OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION KMS OMIM:308700 -MONDO:0016516 Kenny-Caffey syndrome oio:hasExactSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 Kenny syndrome OMIM:127000 MONDO:0016537 lymphoproliferative syndrome oio:hasExactSynonym lymphoproliferative syndrome lymphoproliferative syndrome Lymphoproliferative syndrome OMIMPS:308240 Lymphoproliferative syndrome lymphoproliferative syndrome OMIMPS:308240 -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD OMIM:244400 -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly OMIM:183600 split-hand/foot malformation 1 ectrodactyly OMIM:183600 -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand deformity OMIM:183600 split-hand/foot malformation 1 split-hand deformity OMIM:183600 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot malformation split-hand/foot malformation Split-hand/foot malformation OMIMPS:183600 Split-hand/foot malformation split-hand/foot malformation OMIMPS:183600 MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym conotruncal heart malformations OMIM:217095 conotruncal heart malformations conotruncal heart malformations OMIM:217095 MONDO:0016584 mandibuloacral dysplasia oio:hasExactSynonym mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia with lipodystrophy Mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym Mabry syndrome Mabry syndrome mabry syndrome OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 Mabry syndrome OMIM:239300 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome hyperphosphatasia with mental retardation syndrome Hyperphosphatasia with mental retardation syndrome OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED hyperphosphatasia with mental retardation syndrome OMIMPS:239300 -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Touraine-Solente-Gole syndrome OMIM:259100 MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym hypertropic osteoarthropathy, primary hypertropic osteoarthropathy, primary Hypertropic osteoarthropathy, primary OMIMPS:259100 Hypertropic osteoarthropathy, primary hypertropic osteoarthropathy, primary OMIMPS:259100 -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome Warburg micro syndrome warburg micro syndrome OMIM:600118 warburg micro syndrome 1 Warburg micro syndrome OMIM:600118 -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 micro syndrome OMIM:600118 MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome OMIMPS:600118 Warburg micro syndrome Warburg micro syndrome OMIMPS:600118 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym DA10 OMIM:187370 arthrogryposis, distal, type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DA10 OMIM:187370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia OMIM:184250 MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondylometaphyseal dysplasia OMIMPS:184255 -MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 Meier-Gorlin syndrome OMIM:224690 MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome Meier-Gorlin syndrome OMIMPS:224690 MONDO:0016824 infantile myofibromatosis oio:hasExactSynonym infantile myofibromatosis infantile myofibromatosis Infantile myofibromatosis OMIMPS:228550 Infantile myofibromatosis infantile myofibromatosis OMIMPS:228550 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome oio:hasExactSynonym mitochondrial myopathy with lactic acidosis OMIM:251950 mitochondrial myopathy with lactic acidosis mitochondrial myopathy with lactic acidosis OMIM:251950 MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreifuss muscular dystrophy OMIMPS:310300 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Emery-Dreifuss muscular dystrophy OMIMPS:310300 -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym ARC syndrome ARC syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 ARC syndrome OMIM:208085 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis arthrogryposis, renal dysfunction, and cholestasis Arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple endocrine neoplasia OMIMPS:131100 Multiple endocrine neoplasia multiple endocrine neoplasia OMIMPS:131100 -MONDO:0017195 Bruck syndrome oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures OMIM:609220 bruck syndrome 2 osteogenesis imperfecta with congenital joint contractures OMIM:609220 MONDO:0017265 autosomal recessive congenital ichthyosis oio:hasExactSynonym ichthyosis, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive Ichthyosis, congenital, autosomal recessive OMIMPS:242300 Ichthyosis, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive OMIMPS:242300 MONDO:0017312 Perrault syndrome oio:hasExactSynonym Perrault syndrome OMIMPS:233400 Perrault syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Perrault syndrome OMIMPS:233400 MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome OMIMPS:605711 @@ -52222,9 +51342,7 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile intestin MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym polyposis, juvenile intestinal OMIM:174900 juvenile polyposis syndrome polyposis, juvenile intestinal OMIM:174900 MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposis syndrome OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL juvenile polyposis syndrome OMIM:174900 MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym JPS jPS JPS OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION JPS OMIM:174900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017398 3MC syndrome oio:hasExactSynonym oculopalatoskeletal syndrome OMIM:257920 3mc syndrome 1 oculopalatoskeletal syndrome OMIM:257920 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym Mitchell-Riley syndrome Mitchell-Riley syndrome mitchell-riley syndrome OMIM:615710 mitchell-riley syndrome Mitchell-Riley syndrome OMIM:615710 -MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS LCCS lccs OMIM:253310 lethal congenital contracture syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS OMIM:253310 MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome oio:hasExactSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly TPT-PS syndrome OMIM:190605 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome OMIMPS:243310 Baraitser-Winter syndrome Baraitser-Winter syndrome OMIMPS:243310 MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex OMIMPS:131760 Epidermolysis Bullosa Simplex epidermolysis bullosa simplex OMIMPS:131760 @@ -52233,27 +51351,15 @@ MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:h MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym polyposis, gastric OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach polyposis, gastric OMIM:619182 MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym GAPPS OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GAPPS OMIM:619182 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome OMIMPS:601390 Van Maldergem syndrome Van Maldergem syndrome OMIMPS:601390 -MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly OMIM:269500 sclerosteosis 1 cortical hyperostosis with syndactyly OMIM:269500 -MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 renal-retinal syndrome OMIM:266900 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL erythrokeratodermia variabilis OMIM:133200 MONDO:0017868 diencephalic-mesencephalic junction dysplasia oio:hasExactSynonym diencephalic-mesencephalic junction dysplasia syndrome diencephalic-mesencephalic junction dysplasia syndrome Diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 MONDO:0017896 familial nonmedullary thyroid carcinoma oio:hasExactSynonym thyroid cancer, nonmedullary thyroid cancer, nonmedullary Thyroid cancer, nonmedullary OMIMPS:188550 Thyroid cancer, nonmedullary thyroid cancer, nonmedullary OMIMPS:188550 -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC EEC eec OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC OMIM:129900 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex oeis complex OMIM:258040 oeis complex OEIS complex OMIM:258040 -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome WL syndrome wl syndrome OMIM:186500 multiple synostoses syndrome 1 WL syndrome OMIM:186500 -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-brachydactyly syndrome OMIM:186500 multiple synostoses syndrome 1 symphalangism-brachydactyly syndrome OMIM:186500 MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic Ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Takayasu arteritis takayasu arteritis OMIM:207600 takayasu arteritis Takayasu arteritis OMIM:207600 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym aortic arch syndrome OMIM:207600 takayasu arteritis aortic arch syndrome OMIM:207600 MONDO:0018023 hemoglobin M disease oio:hasExactSynonym methemoglobinemia, beta type OMIM:617971 methemoglobinemia, beta type methemoglobinemia, beta type OMIM:617971 MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome OMIMPS:147060 MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome OMIMPS:193500 Waardenburg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Waardenburg syndrome OMIMPS:193500 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 mesodermal Dysmorphodystrophy, congenital OMIM:277600 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 spherophakia-brachymorphia syndrome OMIM:277600 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 mesodermal Dysmorphodystrophy, congenital OMIM:608328 -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 spherophakia-brachymorphia syndrome OMIM:608328 -MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG HOMG homg OMIM:602014 hypomagnesemia 1, intestinal http://purl.obolibrary.org/obo/mondo#ABBREVIATION HOMG OMIM:602014 -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency OMIM:278300 xanthinuria, type 1 xanthine dehydrogenase deficiency OMIM:278300 MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia galactosemia OMIMPS:230400 MONDO:0018130 brain dopamine-serotonin vesicular transport disease oio:hasExactSynonym PKDYS2 OMIM:618049 parkinsonism-dystonia 2, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PKDYS2 OMIM:618049 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018151 coenzyme Q10 deficiency oio:hasExactSynonym coenzyme Q10 deficiency, primary coenzyme Q10 deficiency, primary Coenzyme Q10 deficiency, primary OMIMPS:607426 Coenzyme Q10 deficiency, primary coenzyme Q10 deficiency, primary OMIMPS:607426 @@ -52265,7 +51371,6 @@ MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2a OMIM:219200 cutis laxa, autosomal recessive, type 2a cutis laxa, autosomal recessive, type 2A OMIM:219200 MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, debre type OMIM:219200 cutis laxa, autosomal recessive, type 2a cutis laxa, debre type OMIM:219200 MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym ARCL2A OMIM:219200 cutis laxa, autosomal recessive, type 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARCL2A OMIM:219200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy oio:hasExactSynonym SMALED SMALED smaled OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMALED OMIM:158600 MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym epilepsy, generalized, with febrile seizures plus epilepsy, generalized, with febrile seizures plus Epilepsy, generalized, with febrile seizures plus OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus epilepsy, generalized, with febrile seizures plus OMIMPS:604233 MONDO:0018264 oculocutaneous albinism type 6 oio:hasExactSynonym OCA6 OMIM:113750 albinism, oculocutaneous, type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCA6 OMIM:113750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym Amish infantile epilepsy syndrome Amish infantile epilepsy syndrome amish infantile epilepsy syndrome OMIM:609056 salt and pepper developmental regression syndrome Amish infantile epilepsy syndrome OMIM:609056 @@ -52273,10 +51378,7 @@ MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym epilepsy syndrome, in MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt and pepper developmental regression syndrome OMIM:609056 salt and pepper developmental regression syndrome salt and pepper developmental regression syndrome OMIM:609056 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym GM3 synthase deficiency GM3 synthase deficiency gm3 synthase deficiency OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL GM3 synthase deficiency OMIM:609056 MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym SPDRS OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPDRS OMIM:609056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym CGD CGD cgd OMIM:306400 granulomatous disease, chronic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION CGD OMIM:306400 MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation OMIMPS:234200 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL neurodegeneration with brain iron accumulation OMIMPS:234200 -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 Hirschsprung disease OMIM:142623 -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 aganglionic megacolon OMIM:142623 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease Hirschsprung disease OMIMPS:142623 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis langerhans cell histiocytosis OMIM:604856 langerhans cell histiocytosis Langerhans cell histiocytosis OMIM:604856 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH LCH lch OMIM:604856 langerhans cell histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCH OMIM:604856 @@ -52285,13 +51387,8 @@ MONDO:0018382 epiphysiolysis of the hip oio:hasExactSynonym slipped femoral cap MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym glow syndrome OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor glow syndrome OMIM:618272 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym GLOW OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GLOW OMIM:618272 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018470 renal agenesis oio:hasExactSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 hereditary renal aplasia OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 renal adysplasia OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis OMIM:191830 renal hypodysplasia/aplasia 1 renal agenesis OMIM:191830 -MONDO:0018470 renal agenesis oio:hasExactSynonym renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 renal aplasia OMIM:191830 MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym Broad-betalipoproteinemia Broad-betalipoproteinemia broad-betalipoproteinemia OMIM:617347 hyperlipoproteinemia, type 3 Broad-betalipoproteinemia OMIM:617347 MONDO:0018542 severe congenital neutropenia oio:hasExactSynonym neutropenia, severe congenital neutropenia, severe congenital Neutropenia, severe congenital OMIMPS:202700 Neutropenia, severe congenital neutropenia, severe congenital OMIMPS:202700 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis OMIM:272100 sudanophilic cerebral sclerosis sudanophilic cerebral sclerosis OMIM:272100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease siemerling-creutzfeldt disease OMIM:300100 adrenoleukodystrophy Siemerling-Creutzfeldt disease OMIM:300100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-ALD X-ALD x-ald OMIM:300100 adrenoleukodystrophy X-ALD OMIM:300100 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym adrenoleukodystrophy OMIM:300100 adrenoleukodystrophy adrenoleukodystrophy OMIM:300100 @@ -52307,12 +51404,8 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy, visceral hete MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome Adie Syndrome adie syndrome OMIM:103100 adie pupil Adie Syndrome OMIM:103100 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie pupil Adie pupil adie pupil OMIM:103100 adie pupil Adie pupil OMIM:103100 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Adie syndrome adie syndrome OMIM:103100 adie pupil Adie syndrome OMIM:103100 -MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym FCAS FCAS fcas OMIM:120100 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION FCAS OMIM:120100 MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome OMIMPS:120100 Familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome OMIMPS:120100 -MONDO:0018770 Jeune syndrome oio:hasExactSynonym Jeune syndrome Jeune syndrome jeune syndrome OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly Jeune syndrome OMIM:208500 MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia short-rib thoracic dysplasia Short-rib thoracic dysplasia OMIMPS:208500 Short-rib thoracic dysplasia short-rib thoracic dysplasia OMIMPS:208500 -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 Joubert-Boltshauser syndrome OMIM:213300 -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome OMIM:213300 MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome OMIMPS:213300 MONDO:0018805 bile duct cyst oio:hasExactSynonym bile duct cysts OMIM:603003 bile duct cysts bile duct cysts OMIM:603003 MONDO:0018805 bile duct cyst oio:hasExactSynonym choledochal cysts OMIM:603003 bile duct cysts choledochal cysts OMIM:603003 @@ -52324,33 +51417,25 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly OMIMPS:607432 Lissencephaly lissencephaly OMIMPS:607432 MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym bile acid synthesis defect, congenital bile acid synthesis defect, congenital Bile acid synthesis defect, congenital OMIMPS:607765 Bile acid synthesis defect, congenital bile acid synthesis defect, congenital OMIMPS:607765 MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym keratosis pilaris atrophicans OMIM:604093 keratosis pilaris atrophicans keratosis pilaris atrophicans OMIM:604093 -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym Cree encephalitis Cree encephalitis cree encephalitis OMIM:225750 aicardi-goutieres syndrome 1 Cree encephalitis OMIM:225750 -MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym idiopathic infantile arterial calcification OMIM:208000 arterial calcification, generalized, of infancy, 1 idiopathic infantile arterial calcification OMIM:208000 MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym Generalized Arterial Calcification of Infancy Generalized Arterial Calcification of Infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy Generalized Arterial Calcification of Infancy OMIMPS:208000 MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym generalized arterial calcification of infancy generalized arterial calcification of infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy generalized arterial calcification of infancy OMIMPS:208000 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML OMIM:601626 leukemia, acute myeloid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AML OMIM:601626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym SBLA syndrome SBLA syndrome sbla syndrome OMIM:151623 li-fraumeni syndrome SBLA syndrome OMIM:151623 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome li-fraumeni syndrome OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Li-Fraumeni syndrome OMIM:151623 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LFS OMIM:151623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia OMIM:602588 branchiootic syndrome 1 branchiootic dysplasia OMIM:602588 -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS MDS mds OMIM:247200 miller-dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS OMIM:247200 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome OMIM:614286 myelodysplastic syndrome myelodysplastic syndrome OMIM:614286 MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS OMIM:614286 myelodysplastic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MDS OMIM:614286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym Mason-type diabetes Mason-type diabetes mason-type diabetes OMIM:606391 maturity-onset diabetes of the young Mason-type diabetes OMIM:606391 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL maturity-onset diabetes of the young OMIM:606391 MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MODY OMIM:606391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS OMIM:174800 mccune-albright syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAS OMIM:174800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 Meckel-Gruber syndrome OMIM:249000 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym ML 3 alpha/beta ML 3 alpha/beta ml 3 alpha/beta OMIM:252600 mucolipidosis 3 alpha/beta ML 3 alpha/beta OMIM:252600 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym pseudo-Hurler polydystrophy pseudo-Hurler polydystrophy pseudo-hurler polydystrophy OMIM:252600 mucolipidosis 3 alpha/beta pseudo-Hurler polydystrophy OMIM:252600 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym myasthenic syndrome, congenital myasthenic syndrome, congenital Myasthenic syndrome, congenital OMIMPS:601462 Myasthenic syndrome, congenital myasthenic syndrome, congenital OMIMPS:601462 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym McLeod syndrome McLeod syndrome mcleod syndrome OMIM:300842 mcleod syndrome McLeod syndrome OMIM:300842 MONDO:0018947 centronuclear myopathy oio:hasExactSynonym myopathy, centronuclear myopathy, centronuclear Myopathy, centronuclear OMIMPS:160150 Myopathy, centronuclear myopathy, centronuclear OMIMPS:160150 -MONDO:0018953 parietal foramina oio:hasExactSynonym catlin marks OMIM:168500 parietal foramina 1 catlin marks OMIM:168500 -MONDO:0018953 parietal foramina oio:hasExactSynonym foramina parietalia permagna OMIM:168500 parietal foramina 1 foramina parietalia permagna OMIM:168500 MONDO:0018953 parietal foramina oio:hasExactSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL parietal foramina OMIMPS:168500 MONDO:0018954 Loeys-Dietz syndrome oio:hasExactSynonym Loeys-Dietz syndrome OMIMPS:609192 Loeys-Dietz syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Loeys-Dietz syndrome OMIMPS:609192 -MONDO:0018958 nemaline myopathy oio:hasExactSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018958 nemaline myopathy oio:hasExactSynonym nemaline myopathy nemaline myopathy Nemaline myopathy OMIMPS:161800 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL nemaline myopathy OMIMPS:161800 MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome OMIMPS:301050 Alport syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alport syndrome OMIMPS:301050 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis, type 1 OMIM:162200 neurofibromatosis, type 1 neurofibromatosis, type 1 OMIM:162200 @@ -52358,21 +51443,13 @@ MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym NF1 OMIM:162200 ne MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-ocular apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ataxia-ocular apraxia 2 OMIM:606002 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-oculomotor apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ataxia-oculomotor apraxia 2 OMIM:606002 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym SCAN2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAN2 OMIM:606002 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome OMIM:163950 MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome OMIMPS:163950 -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA OMIM:204000 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis OMIMPS:204000 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis OMIMPS:204000 MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis OMIMPS:256100 Nephronophthisis nephronophthisis OMIMPS:256100 MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic OMIMPS:243300 -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 Carpenter syndrome OMIM:201000 -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 acrocephalopolysyndactyly type 2 OMIM:201000 MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome Carpenter syndrome OMIMPS:201000 MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym mastocytosis, cutaneous OMIM:154800 mastocytosis, cutaneous mastocytosis, cutaneous OMIM:154800 -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome steele-richardson-olszewski syndrome OMIM:601104 supranuclear palsy, progressive, 1 Steele-Richardson-Olszewski syndrome OMIM:601104 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym 3C syndrome 3C syndrome 3c syndrome OMIM:220210 ritscher-schinzel syndrome 1 3C syndrome OMIM:220210 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 Craniocerebellocardiac dysplasia OMIM:220210 -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 craniocerebellocardiac dysplasia OMIM:220210 MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome OMIMPS:220210 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LAL deficiency, partial LAL deficiency, partial lal deficiency, partial OMIM:278000 cholesteryl ester storage disease LAL deficiency, partial OMIM:278000 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LIPA deficiency, partial LIPA deficiency, partial lipa deficiency, partial OMIM:278000 cholesteryl ester storage disease LIPA deficiency, partial OMIM:278000 @@ -52381,56 +51458,32 @@ MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym lysosomal a MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym androgen insensitivity syndrome OMIM:300068 androgen insensitivity syndrome androgen insensitivity syndrome OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym testicular feminization syndrome OMIM:300068 androgen insensitivity syndrome testicular feminization syndrome OMIM:300068 MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym pseudohypoaldosteronism, type I pseudohypoaldosteronism, type I Pseudohypoaldosteronism, type I OMIMPS:177735 Pseudohypoaldosteronism, type I pseudohypoaldosteronism, type I OMIMPS:177735 -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym Gordon hyperkalemia-hypertension syndrome Gordon hyperkalemia-hypertension syndrome gordon hyperkalemia-hypertension syndrome OMIM:145260 pseudohypoaldosteronism, type 2a Gordon hyperkalemia-hypertension syndrome OMIM:145260 -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym familial hyperkalemic hypertension OMIM:614495 pseudohypoaldosteronism, type 2d familial hyperkalemic hypertension OMIM:614495 MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym pseudohypoaldosteronism, type II pseudohypoaldosteronism, type II Pseudohypoaldosteronism, type II OMIMPS:145260 Pseudohypoaldosteronism, type II pseudohypoaldosteronism, type II OMIMPS:145260 -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019165 central precocious puberty oio:hasExactSynonym precocious puberty, central precocious puberty, central Precocious puberty, central OMIMPS:176400 Precocious puberty, central precocious puberty, central OMIMPS:176400 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency Pyruvate Dehydrogenase Complex Deficiency OMIM:312170 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency pyruvate decarboxylase deficiency OMIM:312170 -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency Pyruvate Dehydrogenase Complex Deficiency OMIMPS:312170 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency OMIMPS:312170 -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Romano-Ward syndrome Romano-Ward syndrome romano-ward syndrome OMIM:192500 long qt syndrome 1 Romano-Ward syndrome OMIM:192500 -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Ward-Romano syndrome Ward-Romano syndrome ward-romano syndrome OMIM:192500 long qt syndrome 1 Ward-Romano syndrome OMIM:192500 MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Long QT Syndrome Long QT Syndrome Long QT syndrome OMIMPS:192500 Long QT syndrome Long QT Syndrome OMIMPS:192500 -MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym HHT HHT hht OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHT OMIM:187300 MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym telangiectasia, hereditary hemorrhagic OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) telangiectasia, hereditary hemorrhagic OMIMPS:187300 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Broad thumb-hallux syndrome Broad thumb-hallux syndrome broad thumb-hallux syndrome OMIM:180849 rubinstein-taybi syndrome 1 Broad thumb-hallux syndrome OMIM:180849 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein syndrome Rubinstein syndrome rubinstein syndrome OMIM:180849 rubinstein-taybi syndrome 1 Rubinstein syndrome OMIM:180849 MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome OMIMPS:180849 Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome OMIMPS:180849 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa OMIM:268000 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL retinitis pigmentosa OMIMPS:268000 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder OMIM:601539 peroxisome biogenesis disorder 1b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder OMIM:601539 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder peroxisome biogenesis disorder Peroxisome biogenesis disorder OMIMPS:214100 Peroxisome biogenesis disorder http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisome biogenesis disorder OMIMPS:214100 MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses Mucopolysaccharidoses OMIMPS:607014 MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym mucopolysaccharidoses mucopolysaccharidoses Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses mucopolysaccharidoses OMIMPS:607014 MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym nail disorder, nonsyndromic congenital nail disorder, nonsyndromic congenital Nail disorder, nonsyndromic congenital OMIMPS:161050 Nail disorder, nonsyndromic congenital nail disorder, nonsyndromic congenital OMIMPS:161050 MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) ectodermal dysplasia OMIMPS:305100 MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia (select examples) ectodermal dysplasia (select examples) Ectodermal dysplasia (select examples) OMIMPS:305100 Ectodermal dysplasia (select examples) ectodermal dysplasia (select examples) OMIMPS:305100 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym Seckel-type Dwarfism Seckel-type Dwarfism seckel-type dwarfism OMIM:210600 seckel syndrome 1 Seckel-type Dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym bird-headed dwarfism OMIM:210600 seckel syndrome 1 bird-headed dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym nanocephalic Dwarfism nanocephalic Dwarfism nanocephalic dwarfism OMIM:210600 seckel syndrome 1 nanocephalic Dwarfism OMIM:210600 -MONDO:0019342 Seckel syndrome oio:hasExactSynonym SCKL SCKL sckl OMIM:210600 seckel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCKL OMIM:210600 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin OMIM:270300 peeling skin syndrome 1 deciduous skin OMIM:270300 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS OMIM:270300 -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION PSS OMIM:601224 MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism OMIM:117550 sotos syndrome cerebral gigantism OMIM:117550 MONDO:0019349 Sotos syndrome oio:hasExactSynonym chromosome 5q35 deletion syndrome OMIM:117550 sotos syndrome chromosome 5q35 deletion syndrome OMIM:117550 MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome Sotos syndrome sotos syndrome OMIM:117550 sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sotos syndrome OMIM:117550 MONDO:0019354 Stickler syndrome oio:hasExactSynonym Stickler syndrome OMIMPS:108300 Stickler syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Stickler syndrome OMIMPS:108300 -MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia OMIM:227650 MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia OMIMPS:227650 Fanconi anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fanconi anemia OMIMPS:227650 -MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym CDA OMIM:607541 corneal dystrophy, avellino type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDA OMIM:607541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic Anemia, congenital dyserythropoietic OMIMPS:224120 Anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic OMIMPS:224120 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym Saul-Wilson syndrome Saul-Wilson syndrome saul-wilson syndrome OMIM:618150 saul-wilson syndrome Saul-Wilson syndrome OMIM:618150 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia OMIM:618150 saul-wilson syndrome microcephalic osteodysplastic dysplasia OMIM:618150 MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym SWILS OMIM:618150 saul-wilson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWILS OMIM:618150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis OMIM:259750 osteoporosis, juvenile idiopathic juvenile osteoporosis OMIM:259750 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym SPTCL OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPTCL OMIM:618398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 anterior segment mesenchymal dysgenesis OMIM:107250 -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 anterior segment ocular dysgenesis OMIM:107250 -MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym Criswick-Schepens syndrome Criswick-Schepens syndrome criswick-schepens syndrome OMIM:133780 exudative vitreoretinopathy 1 Criswick-Schepens syndrome OMIM:133780 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type, 1 ehlers-danlos syndrome, classic type, 1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Ehlers-Danlos syndrome, classic type, 1 OMIM:130000 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym EDSCL1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDSCL1 OMIM:130000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 2 ehlers-danlos syndrome, classic type, 2 OMIM:130010 ehlers-danlos syndrome, classic type, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Ehlers-Danlos syndrome, classic type, 2 OMIM:130010 @@ -52438,25 +51491,17 @@ MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym EDSCL MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome A Cockayne syndrome A Cockayne syndrome a OMIM:216400 Cockayne syndrome a Cockayne syndrome A OMIM:216400 MONDO:0019570 Cockayne syndrome type 2 oio:hasExactSynonym Cockayne syndrome B OMIM:133540 Cockayne syndrome B Cockayne syndrome B OMIM:133540 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes spondyloepimetaphyseal dysplasia, Pakistani type OMIM:612847 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym SEMDJL SEMDJL semdjl OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEMDJL OMIM:271640 MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 MONDO:0019719 congenital anomaly of kidney and urinary tract oio:hasExactSynonym congenital anomalies of kidney and urinary tract congenital anomalies of kidney and urinary tract Congenital anomalies of kidney and urinary tract OMIMPS:610805 Congenital anomalies of kidney and urinary tract congenital anomalies of kidney and urinary tract OMIMPS:610805 MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym rippling muscle disease 2 OMIM:606072 rippling muscle disease 2 rippling muscle disease 2 OMIM:606072 MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym RMD2 OMIM:606072 rippling muscle disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RMD2 OMIM:606072 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019978 Robinow syndrome oio:hasExactSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 Robinow dwarfism OMIM:180700 -MONDO:0019978 Robinow syndrome oio:hasExactSynonym acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 acral dysostosis with facial and genital abnormalities OMIM:180700 -MONDO:0019978 Robinow syndrome oio:hasExactSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 fetal face syndrome OMIM:180700 -MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg progressive myoclonic epilepsy OMIM:254800 MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym epilepsy, progressive myoclonic epilepsy, progressive myoclonic Epilepsy, progressive myoclonic OMIMPS:254800 Epilepsy, progressive myoclonic epilepsy, progressive myoclonic OMIMPS:254800 MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym lipodystrophy, familial partial lipodystrophy, familial partial Lipodystrophy, familial partial OMIMPS:151660 Lipodystrophy, familial partial lipodystrophy, familial partial OMIMPS:151660 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia pontocerebellar hypoplasia Pontocerebellar hypoplasia OMIMPS:607596 Pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pontocerebellar hypoplasia OMIMPS:607596 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect atrioventricular septal defect OMIM:606215 atrioventricular septal defect Atrioventricular Septal Defect OMIM:606215 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect Atrioventricular Septal Defect OMIMPS:606215 -MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 epilepsy, familial focal, with variable foci OMIM:604364 MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci OMIMPS:604364 MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventricular nodular heterotopia periventricular nodular heterotopia Periventricular nodular heterotopia OMIMPS:300049 Periventricular nodular heterotopia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL periventricular nodular heterotopia OMIMPS:300049 MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym corneal dystrophy, posterior polymorphous corneal dystrophy, posterior polymorphous Corneal dystrophy, posterior polymorphous OMIMPS:122000 Corneal dystrophy, posterior polymorphous corneal dystrophy, posterior polymorphous OMIMPS:122000 -MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium OMIM:169150 macular dystrophy, patterned, 1 patterned dystrophy of retinal pigment epithelium OMIM:169150 MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym macular dystrophy, patterned macular dystrophy, patterned Macular dystrophy, patterned OMIMPS:169150 Macular dystrophy, patterned macular dystrophy, patterned OMIMPS:169150 MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction oio:hasExactSynonym adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym peho-like syndrome OMIM:617507 peho-like syndrome peho-like syndrome OMIM:617507 @@ -52602,7 +51647,6 @@ MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 o MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 hemochromatosis OMIM:235200 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis, type 1 OMIM:235200 hemochromatosis, type 1 hemochromatosis, type 1 OMIM:235200 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 OMIM:235200 hemochromatosis, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HFE1 OMIM:235200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis hemochromatosis OMIMPS:235200 MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly OMIM:603596 polydactyly polydactyly OMIM:603596 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym chorea, benign hereditary OMIM:118700 chorea, benign hereditary chorea, benign hereditary OMIM:118700 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym hereditary progressive chorea without dementia OMIM:118700 chorea, benign hereditary hereditary progressive chorea without dementia OMIM:118700 @@ -52619,13 +51663,10 @@ MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym Crigler-Najjar MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, crigler-najjar type 1 OMIM:218800 crigler-najjar syndrome, type 1 hyperbilirubinemia, Crigler-Najjar type 1 OMIM:218800 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym Kok disease Kok disease kok disease OMIM:149400 hyperekplexia 1 Kok disease OMIM:149400 MONDO:0021024 malaria, susceptibility to oio:hasExactSynonym malaria, susceptibility to OMIM:611162 malaria, susceptibility to malaria, susceptibility to OMIM:611162 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-intellectual disability syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 alopecia-intellectual disability syndrome 1 OMIM:203650 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED alopecia-mental retardation syndrome 1 OMIM:203650 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym APMR1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED APMR1 OMIM:203650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 adenomatous polyposis of the colon OMIM:175100 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis Familial Adenomatous Polyposis OMIMPS:175100 MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis familial adenomatous polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis familial adenomatous polyposis OMIMPS:175100 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 OMIM:175100 familial adenomatous polyposis 1 familial adenomatous polyposis 1 OMIM:175100 @@ -52678,7 +51719,6 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2G6-associated neurodegeneration, Pla2G6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2G6-associated OMIM:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a neurodegeneration, Pla2g6-associated OMIM:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2A OMIM:256600 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA2A OMIM:256600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 melanoma, cutaneous malignant OMIM:155600 MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant melanoma, cutaneous malignant OMIMPS:155600 MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 OMIM:233300 ovarian dysgenesis 1 ovarian dysgenesis 1 OMIM:233300 MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ODG1 OMIM:233300 ovarian dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ODG1 OMIM:233300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -52780,7 +51820,6 @@ MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSy MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSynonym IMD98 OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD98 OMIM:301078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym immunodeficiency 102 OMIM:301082 immunodeficiency 102 immunodeficiency 102 OMIM:301082 MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym IMD102 OMIM:301082 immunodeficiency 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD102 OMIM:301082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 oculopharyngodistal myopathy OMIM:164310 MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy oculopharyngodistal myopathy OMIMPS:164310 MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym Linked syndrome Linked syndrome linked syndrome OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked Linked syndrome OMIM:301056 MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym MCAND OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCAND OMIM:301056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -53058,7 +52097,6 @@ MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym spermatogenic failur MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym SPGF55 OMIM:619380 spermatogenic failure 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPGF55 OMIM:619380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym immunodeficiency 82 with systemic inflammation OMIM:619381 immunodeficiency 82 with systemic inflammation immunodeficiency 82 with systemic inflammation OMIM:619381 MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym IMD82 OMIM:619381 immunodeficiency 82 with systemic inflammation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMD82 OMIM:619381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym LHONAR LHONAR lhonar OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION LHONAR OMIM:619382 MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym combined oxidative phosphorylation deficiency 52 OMIM:619386 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 OMIM:619386 MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym COXPD52 OMIM:619386 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD52 OMIM:619386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54131,7 +53169,6 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym long QT syndrome 1 long QT MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 OMIM:192500 long qt syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LQT1 OMIM:192500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym Goldblatt syndrome Goldblatt syndrome goldblatt syndrome OMIM:184260 odontochondrodysplasia 1 Goldblatt syndrome OMIM:184260 MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym ODCD ODCD odcd OMIM:184260 odontochondrodysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ODCD OMIM:184260 -MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Glanzmann thrombasthenia OMIM:273800 MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Glanzmann thrombasthenia OMIMPS:273800 MONDO:0100327 hypercholanemia, familial oio:hasExactSynonym hypercholanemia, familial hypercholanemia, familial Hypercholanemia, familial OMIMPS:607748 Hypercholanemia, familial hypercholanemia, familial OMIMPS:607748 MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym Friedreich ataxia 1 Friedreich ataxia 1 friedreich ataxia 1 OMIM:229300 friedreich ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Friedreich ataxia 1 OMIM:229300 @@ -54235,7 +53272,6 @@ MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym Carey-Fineman- MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with moebius sequence and robin sequence OMIM:254940 carey-fineman-ziter syndrome 1 myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence OMIM:254940 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym CFZS1 OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CFZS1 OMIM:254940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DEDSSH1 OMIM:616901 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800444 Birt-Hogg-Dube syndrome oio:hasExactSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION BHD OMIM:135150 MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym Hornstein-Knickenberg syndrome Hornstein-Knickenberg syndrome hornstein-knickenberg syndrome OMIM:135150 birt-hogg-dube syndrome 1 Hornstein-Knickenberg syndrome OMIM:135150 MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 birt-hogg-dube syndrome 1 fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to oio:hasExactSynonym bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 @@ -54252,7 +53288,6 @@ MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 oio:has MONDO:0957820 congenital disorder of glycosylation, type IIbb oio:hasExactSynonym CDG IIbb CDG IIbb cdg iibb OMIM:620546 congenital disorder of glycosylation, type iibb CDG IIbb OMIM:620546 MONDO:0958237 isolated hyperferritinemia oio:hasExactSynonym hyperferritinemia OMIM:620729 hyperferritinemia hyperferritinemia OMIM:620729 MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIMS WHIMS whims OMIM:193670 whim syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION WHIMS OMIM:193670 -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIM Syndrome WHIM Syndrome WHIM syndrome OMIMPS:193670 WHIM syndrome WHIM Syndrome OMIMPS:193670 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym cataract-mental retardation-hypogonadism OMIM:212720 martsolf syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED cataract-mental retardation-hypogonadism OMIM:212720 MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym IMNEPD IMNEPD imnepd OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION IMNEPD OMIM:616263 MONDO:8000014 familial antiphospholipid syndrome oio:hasExactSynonym antiphospholipid syndrome, familial OMIM:107320 antiphospholipid syndrome, familial antiphospholipid syndrome, familial OMIM:107320 @@ -54276,7 +53311,6 @@ MONDO:0000153 transposition of the great arteries oio:hasExactSynonym complete MONDO:0000153 transposition of the great arteries oio:hasExactSynonym transposition of the great vessels transposition of the great vessels Transposition of the great vessels Orphanet:216675 Transposition of the great arteries transposition of the great vessels Orphanet:216675 MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGA Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGA Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGV Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGV Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym MAC Orphanet:1456 Middle aortic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAC Orphanet:1456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym colobomatous microphthalmia colobomatous microphthalmia Colobomatous microphthalmia Orphanet:98938 Colobomatous microphthalmia colobomatous microphthalmia Orphanet:98938 MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst microphthalmia with colobomatous cyst Microphthalmia with colobomatous cyst Orphanet:98938 Colobomatous microphthalmia microphthalmia with colobomatous cyst Orphanet:98938 MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia-anophthalmia-coloboma syndrome microphthalmia-anophthalmia-coloboma syndrome Microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 Colobomatous microphthalmia microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 @@ -54304,7 +53338,6 @@ MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebra MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym creatine deficiency syndrome creatine deficiency syndrome Creatine deficiency syndrome Orphanet:79172 Creatine deficiency syndrome creatine deficiency syndrome Orphanet:79172 MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CCDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Orphanet:2704 Urofacial syndrome Ochoa syndrome Orphanet:2704 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome Orphanet:2704 Urofacial syndrome Urofacial Syndrome Orphanet:2704 MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis-inverted smile syndrome hydronephrosis-inverted smile syndrome Hydronephrosis-inverted smile syndrome Orphanet:2704 Urofacial syndrome hydronephrosis-inverted smile syndrome Orphanet:2704 @@ -54324,7 +53357,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym rare form of salmonellosis rare MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone fibrous dysplasia of bone Orphanet:249 MONDO:0000859 spina bifida occulta oio:hasExactSynonym closed spinal dysraphism closed spinal dysraphism Closed spinal dysraphism Orphanet:645202 Closed spinal dysraphism closed spinal dysraphism Orphanet:645202 MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta spina bifida occulta Spina bifida occulta Orphanet:645202 Closed spinal dysraphism spina bifida occulta Orphanet:645202 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MSA Orphanet:102 Multiple system atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MSA Orphanet:102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia Orphanet:2598 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym myopathy, lactic acidosis and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia Myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MLASA Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MLASA Orphanet:2598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54359,7 +53391,6 @@ MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurilemoma acousti MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurinoma acoustic neurinoma Acoustic neurinoma Orphanet:252175 Vestibular schwannoma acoustic neurinoma Orphanet:252175 MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic neuroma Orphanet:252175 Vestibular schwannoma acoustic neuroma Orphanet:252175 MONDO:0001569 acoustic neuroma oio:hasExactSynonym vestibular schwannoma vestibular schwannoma Vestibular schwannoma Orphanet:252175 Vestibular schwannoma vestibular schwannoma Orphanet:252175 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Alpha-L-iduronidase deficiency Orphanet:579 Mucopolysaccharidosis type 1 Alpha-L-iduronidase deficiency Orphanet:579 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I Mucopolysaccharidosis Type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 Mucopolysaccharidosis Type I Orphanet:579 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 mucopolysaccharidosis type I Orphanet:579 @@ -54382,7 +53413,6 @@ MONDO:0001956 capillary leak syndrome oio:hasExactSynonym capillary leak syndro MONDO:0001956 capillary leak syndrome oio:hasExactSynonym idiopathic capillary leak syndrome idiopathic capillary leak syndrome Idiopathic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome idiopathic capillary leak syndrome Orphanet:188 MONDO:0001956 capillary leak syndrome oio:hasExactSynonym systemic capillary leak syndrome systemic capillary leak syndrome Systemic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome systemic capillary leak syndrome Orphanet:188 MONDO:0001956 capillary leak syndrome oio:hasExactSynonym SCLS Orphanet:188 Systemic capillary leak syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCLS Orphanet:188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001956 capillary leak syndrome oio:hasExactSynonym CLS Orphanet:192 Coffin-Lowry syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CLS Orphanet:192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma Orphanet:2415 Rare lymphatic malformation lymphangioma Orphanet:2415 MONDO:0002095 vascular cancer oio:hasExactSynonym malignant vascular tumor malignant vascular tumor Malignant vascular tumor Orphanet:673466 Malignant vascular tumor malignant vascular tumor Orphanet:673466 MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym conjunctival malignant melanoma conjunctival malignant melanoma Conjunctival malignant melanoma Orphanet:617910 Conjunctival malignant melanoma conjunctival malignant melanoma Orphanet:617910 @@ -54615,7 +53645,6 @@ MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSy MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSynonym minimally differentiated acute myeloblastic leukemia minimally differentiated acute myeloblastic leukemia Minimally differentiated acute myeloblastic leukemia Orphanet:98832 Acute myeloid leukemia with minimal differentiation minimally differentiated acute myeloblastic leukemia Orphanet:98832 MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym AML M1 Orphanet:98833 Acute myeloblastic leukemia without maturation AML M1 Orphanet:98833 MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym acute myeloblastic leukemia M1 acute myeloblastic leukemia M1 Acute myeloblastic leukemia M1 Orphanet:98833 Acute myeloblastic leukemia without maturation acute myeloblastic leukemia M1 Orphanet:98833 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RA Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia Orphanet:98826 Myelodysplastic neoplasm with low blasts refractory anemia Orphanet:98826 MONDO:0005308 ciliopathy oio:hasExactSynonym ciliopathy ciliopathy Ciliopathy Orphanet:363250 Ciliopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL ciliopathy Orphanet:363250 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing enterocolitis Orphanet:391673 Necrotizing enterocolitis necrotizing enterocolitis Orphanet:391673 @@ -54934,7 +53963,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym HCHWA, Icelandic type Orph MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cystatin amyloidosis cystatin amyloidosis Cystatin amyloidosis Orphanet:100008 ACys amyloidosis cystatin amyloidosis Orphanet:100008 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis, Icelandic type hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 ACys amyloidosis hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cystatin C amyloid angiopathy hereditary cystatin C amyloid angiopathy Hereditary cystatin C amyloid angiopathy Orphanet:100008 ACys amyloidosis hereditary cystatin C amyloid angiopathy Orphanet:100008 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 Cerebral Amyloid Angiopathy hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, Ostertag type amyloidosis, Ostertag type Amyloidosis, Ostertag type Orphanet:85450 Hereditary amyloidosis with primary renal involvement amyloidosis, Ostertag type Orphanet:85450 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial amyloid nephropathy familial amyloid nephropathy Familial amyloid nephropathy Orphanet:85450 Hereditary amyloidosis with primary renal involvement familial amyloid nephropathy Orphanet:85450 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial renal amyloidosis familial renal amyloidosis Familial renal amyloidosis Orphanet:85450 Hereditary amyloidosis with primary renal involvement familial renal amyloidosis Orphanet:85450 @@ -55069,7 +54097,6 @@ MONDO:0007248 hereditary painful callosities oio:hasExactSynonym keratosis palm MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly camptobrachydactyly Camptobrachydactyly Orphanet:1319 Camptobrachydactyly camptobrachydactyly Orphanet:1319 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dwarfism campomelic dwarfism Campomelic dwarfism Orphanet:140 Campomelic dysplasia campomelic dwarfism Orphanet:140 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic dysplasia Orphanet:140 Campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL campomelic dysplasia Orphanet:140 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD Orphanet:97242 Congenital muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMD Orphanet:97242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Orphanet:376 Gordon syndrome Gordon syndrome Orphanet:376 MONDO:0007252 Gordon syndrome oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome camptodactyly-cleft palate-clubfoot syndrome Camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 MONDO:0007252 Gordon syndrome oio:hasExactSynonym distal arthrogryposis type 3 distal arthrogryposis type 3 Distal arthrogryposis type 3 Orphanet:376 Gordon syndrome distal arthrogryposis type 3 Orphanet:376 @@ -55080,7 +54107,6 @@ MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym Cantu crani MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome Orphanet:363705 Craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome Orphanet:363705 MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:195 Cat-eye syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CES Orphanet:195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:645749 Congenital esophageal stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CES Orphanet:645749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome oio:hasExactSynonym Wellesley-Carman-French syndrome Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome Wellesley-Carman-French syndrome Orphanet:1373 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym leukocyte adhesion deficiency type I leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type I Orphanet:99842 Leukocyte adhesion deficiency type I leukocyte adhesion deficiency type I Orphanet:99842 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym LAD-I lad-I LAD-I Orphanet:99842 Leukocyte adhesion deficiency type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION LAD-I Orphanet:99842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -55156,7 +54182,6 @@ MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals-Hecht syndrome Orphanet:115 Congenital contractural arachnodactyly Beals-Hecht syndrome Orphanet:115 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA syndrome Orphanet:115 Congenital contractural arachnodactyly CCA syndrome Orphanet:115 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym distal arthrogryposis type 9 distal arthrogryposis type 9 Distal arthrogryposis type 9 Orphanet:115 Congenital contractural arachnodactyly distal arthrogryposis type 9 Orphanet:115 -MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA Orphanet:70567 Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CCA Orphanet:70567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym hereditary coproporphyria hereditary coproporphyria Hereditary coproporphyria Orphanet:79273 Hereditary coproporphyria hereditary coproporphyria Orphanet:79273 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy Schnyder corneal dystrophy Orphanet:98967 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder crystalline corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy Orphanet:98967 @@ -55258,7 +54283,6 @@ MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym DI-2 Orpha MONDO:0007442 dentinogenesis imperfecta type 3 oio:hasExactSynonym dentinogenesis imperfecta, Shields type 3 dentinogenesis imperfecta, Shields type 3 Dentinogenesis imperfecta, Shields type 3 Orphanet:166265 Dentinogenesis imperfecta type 3 dentinogenesis imperfecta, Shields type 3 Orphanet:166265 MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym isolated asymmetric crying facies isolated asymmetric crying facies Isolated asymmetric crying facies Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris isolated asymmetric crying facies Orphanet:1166 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis Orphanet:86920 Dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis Orphanet:86920 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym Arginine vasopressin deficiency Orphanet:178029 Arginine vasopressin deficiency Arginine vasopressin deficiency Orphanet:178029 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary CDI hereditary CDI Hereditary CDI Orphanet:30925 Hereditary arginine vasopressin deficiency hereditary CDI Orphanet:30925 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary neurogenic diabetes insipidus hereditary neurogenic diabetes insipidus Hereditary neurogenic diabetes insipidus Orphanet:30925 Hereditary arginine vasopressin deficiency hereditary neurogenic diabetes insipidus Orphanet:30925 MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSynonym familial doughnut lesions of skull familial doughnut lesions of skull Familial doughnut lesions of skull Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome familial doughnut lesions of skull Orphanet:85192 @@ -55601,8 +54625,8 @@ MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-ano MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-anosmia-deafness-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Johnson neuroectodermal syndrome alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Del(11)(q23.3) del(11)(q23.3) Orphanet:2308 Jacobsen syndrome Del(11)(q23.3) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Orphanet:2308 Jacobsen syndrome Del(11)(q23.3) Orphanet:2308 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Del(11)(qter) del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 +MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome Del(11)(qter) Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Orphanet:2308 Jacobsen syndrome Jacobsen syndrome Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal deletion 11q distal deletion 11q Distal deletion 11q Orphanet:2308 Jacobsen syndrome distal deletion 11q Orphanet:2308 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal monosomy 11q distal monosomy 11q Distal monosomy 11q Orphanet:2308 Jacobsen syndrome distal monosomy 11q Orphanet:2308 @@ -55725,7 +54749,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym polymorphic v MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy type 2 vitelliform macular dystrophy type 2 Vitelliform macular dystrophy type 2 Orphanet:1243 Best vitelliform macular dystrophy vitelliform macular dystrophy type 2 Orphanet:1243 MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BVMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BVMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007935 cystoid macular edema oio:hasExactSynonym autosomal dominant cystoid macular edema autosomal dominant cystoid macular edema Autosomal dominant cystoid macular edema Orphanet:75381 Cystoid macular dystrophy autosomal dominant cystoid macular edema Orphanet:75381 MONDO:0007935 cystoid macular edema oio:hasExactSynonym familial macular edema familial macular edema Familial macular edema Orphanet:75381 Cystoid macular dystrophy familial macular edema Orphanet:75381 MONDO:0007935 cystoid macular edema oio:hasExactSynonym DCMD Orphanet:75381 Cystoid macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DCMD Orphanet:75381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -55819,7 +54842,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disease transient myeloproliferative disease Transient myeloproliferative disease Orphanet:420611 Transient myeloproliferative syndrome transient myeloproliferative disease Orphanet:420611 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome transient myeloproliferative syndrome Transient myeloproliferative syndrome Orphanet:420611 Transient myeloproliferative syndrome transient myeloproliferative syndrome Orphanet:420611 MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Jankovic-Rivera syndrome Orphanet:2590 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia episodic ataxia with myokymia Episodic ataxia with myokymia Orphanet:37612 Episodic ataxia type 1 episodic ataxia with myokymia Orphanet:37612 @@ -55832,7 +54854,6 @@ MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 Orphane MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy tubular aggregate myopathy Tubular aggregate myopathy Orphanet:2593 Tubular aggregate myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL tubular aggregate myopathy Orphanet:2593 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile DM juvenile DM Juvenile DM Orphanet:93672 Juvenile dermatomyositis juvenile DM Orphanet:93672 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis Orphanet:93672 Juvenile dermatomyositis juvenile dermatomyositis Orphanet:93672 -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy Orphanet:206647 Myotonic dystrophy Myotonic Dystrophy Orphanet:206647 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Orphanet:273 Steinert myotonic dystrophy Steinert disease Orphanet:273 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym myotonic dystrophy type 1 myotonic dystrophy type 1 Myotonic dystrophy type 1 Orphanet:273 Steinert myotonic dystrophy myotonic dystrophy type 1 Orphanet:273 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome NFJ syndrome Orphanet:69087 @@ -56156,14 +55177,12 @@ MONDO:0008421 flat face-microstomia-ear anomaly syndrome oio:hasExactSynonym bl MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Orphanet:2462 Shprintzen-Goldberg syndrome Marfanoid craniosynostosis syndrome Orphanet:2462 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Shprintzen-Goldberg syndrome Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Shprintzen-Goldberg syndrome Orphanet:2462 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008428 septooptic dysplasia oio:hasExactSynonym De Morsier syndrome Orphanet:3157 Septo-optic dysplasia spectrum De Morsier syndrome Orphanet:3157 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septo-optic dysplasia septo-optic dysplasia Septo-optic dysplasia Orphanet:3157 Septo-optic dysplasia spectrum septo-optic dysplasia Orphanet:3157 MONDO:0008428 septooptic dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome Orphanet:85191 Singleton-Merten dysplasia Singleton-Merten syndrome Orphanet:85191 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym Small cell lung cancer Orphanet:70573 Small cell lung cancer Small cell lung cancer Orphanet:70573 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym small cell lung cancer small cell lung cancer Small cell lung cancer Orphanet:70573 Small cell lung cancer small cell lung cancer Orphanet:70573 -MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym 17p11.2 microdeletion syndrome Orphanet:819 Smith-Magenis syndrome 17p11.2 microdeletion syndrome Orphanet:819 MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMITH-Magenis syndrome SMITH-Magenis syndrome Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome SMITH-Magenis syndrome Orphanet:819 MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Smith-Magenis syndrome Orphanet:819 @@ -56231,7 +55250,6 @@ MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber-Krabbe syn MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalofacial angiomatosis encephalofacial angiomatosis Encephalofacial angiomatosis Orphanet:3205 Sturge-Weber syndrome encephalofacial angiomatosis Orphanet:3205 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalotrigeminal angiomatosis encephalotrigeminal angiomatosis Encephalotrigeminal angiomatosis Orphanet:3205 Sturge-Weber syndrome encephalotrigeminal angiomatosis Orphanet:3205 MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Orphanet:3465 Worster-Drought syndrome Worster-Drought syndrome Orphanet:3465 MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym congenital suprabulbar paresis congenital suprabulbar paresis Congenital suprabulbar paresis Orphanet:3465 Worster-Drought syndrome congenital suprabulbar paresis Orphanet:3465 MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis supravalvular aortic stenosis Supravalvular aortic stenosis Orphanet:3193 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL supravalvular aortic stenosis Orphanet:3193 @@ -56356,8 +55374,8 @@ MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams syndrome Orphane MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome Orphanet:904 Williams syndrome Williams-Beuren syndrome Orphanet:904 MONDO:0008678 Williams syndrome oio:hasExactSynonym deletion 7q11.23 deletion 7q11.23 Deletion 7q11.23 Orphanet:904 Williams syndrome deletion 7q11.23 Orphanet:904 MONDO:0008678 Williams syndrome oio:hasExactSynonym monosomy 7q11.23 monosomy 7q11.23 Monosomy 7q11.23 Orphanet:904 Williams syndrome monosomy 7q11.23 Orphanet:904 -MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 +MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome Del(11)(p13) Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome Orphanet:893 WAGR syndrome WAGR syndrome Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 WAGR syndrome Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 MONDO:0008681 WAGR syndrome oio:hasExactSynonym deletion 11p13 deletion 11p13 Deletion 11p13 Orphanet:893 WAGR syndrome deletion 11p13 Orphanet:893 @@ -56398,7 +55416,6 @@ MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficienc MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short limb skeletal dysplasia with SCID short limb skeletal dysplasia with SCID Short limb skeletal dysplasia with SCID Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency short limb skeletal dysplasia with SCID Orphanet:935 MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short-limb skeletal dysplasia with severe combined immunodeficiency short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 MONDO:0008705 lysosomal acid phosphatase deficiency oio:hasExactSynonym lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency Lysosomal acid phosphatase deficiency Orphanet:35121 Lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency Orphanet:35121 -MONDO:0008706 Ackerman syndrome oio:hasExactSynonym Ackerman syndrome Orphanet:79099 Interstitial granulomatous dermatitis with arthritis Ackerman syndrome Orphanet:79099 MONDO:0008707 acro-renal-mandibular syndrome oio:hasExactSynonym split hand/split foot-mandibular hypoplasia syndrome split hand/split foot-mandibular hypoplasia syndrome Split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 Acro-renal-mandibular syndrome split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal syndrome Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL acrocallosal syndrome Orphanet:36 MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACS Orphanet:36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -56531,7 +55548,6 @@ MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExact MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym CACP syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome CACP syndrome Orphanet:2848 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym arthropathy-camptodactyly syndrome arthropathy-camptodactyly syndrome Arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome arthropathy-camptodactyly syndrome Orphanet:2848 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym pericarditis-arthropathy-camptodactyly syndrome pericarditis-arthropathy-camptodactyly syndrome Pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym Jacobs syndrome Orphanet:8 47,XYY syndrome Jacobs syndrome Orphanet:8 MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminidase deficiency aspartylglucosaminidase deficiency Aspartylglucosaminidase deficiency Orphanet:93 Aspartylglucosaminuria aspartylglucosaminidase deficiency Orphanet:93 MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminuria aspartylglucosaminuria Aspartylglucosaminuria Orphanet:93 Aspartylglucosaminuria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL aspartylglucosaminuria Orphanet:93 MONDO:0008832 right atrial isomerism oio:hasExactSynonym Ivemark Syndrome Ivemark Syndrome Ivemark syndrome Orphanet:97548 Right sided atrial isomerism Ivemark Syndrome Orphanet:97548 @@ -56733,7 +55749,6 @@ MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExact MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym infantile hereditary endothelial dystrophy infantile hereditary endothelial dystrophy Infantile hereditary endothelial dystrophy Orphanet:293603 Congenital hereditary endothelial dystrophy type II infantile hereditary endothelial dystrophy Orphanet:293603 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED2 Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHED2 Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHEDII Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEDII Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy Orphanet:98969 Macular corneal dystrophy Fehr corneal dystrophy Orphanet:98969 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym corneal dystrophy Groenouw type II corneal dystrophy Groenouw type II Corneal dystrophy Groenouw type II Orphanet:98969 Macular corneal dystrophy corneal dystrophy Groenouw type II Orphanet:98969 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular corneal dystrophy Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL macular corneal dystrophy Orphanet:98969 @@ -56911,7 +55926,6 @@ MONDO:0009168 Fowler syndrome oio:hasExactSynonym Encephaloclastic proliferativ MONDO:0009168 Fowler syndrome oio:hasExactSynonym cerebral proliferative glomeruloid vasculopathy cerebral proliferative glomeruloid vasculopathy Cerebral proliferative glomeruloid vasculopathy Orphanet:221126 Fowler vasculopathy cerebral proliferative glomeruloid vasculopathy Orphanet:221126 MONDO:0009168 Fowler syndrome oio:hasExactSynonym hydrocephaly/hydranencephaly due to cerebral vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 Fowler vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 MONDO:0009168 Fowler syndrome oio:hasExactSynonym proliferative vasculopathy and hydranencephaly/hydrocephaly proliferative vasculopathy and hydranencephaly/hydrocephaly Proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 Fowler vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 -MONDO:0009168 Fowler syndrome oio:hasExactSynonym Fowler syndrome Orphanet:2795 Fowler urethral sphincter dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Fowler syndrome Orphanet:2795 MONDO:0009169 endocardial fibroelastosis oio:hasExactSynonym endocardial fibroelastosis endocardial fibroelastosis Endocardial fibroelastosis Orphanet:2022 Endocardial fibroelastosis endocardial fibroelastosis Orphanet:2022 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency oio:hasExactSynonym congenital enterokinase deficiency congenital enterokinase deficiency Congenital enterokinase deficiency Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency congenital enterokinase deficiency Orphanet:168601 MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Shulman syndrome Orphanet:3165 Eosinophilic fasciitis Shulman syndrome Orphanet:3165 @@ -56985,7 +55999,6 @@ MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym acid ceramidase def MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym FFU complex Orphanet:2019 Femur-fibula-ulna complex FFU complex Orphanet:2019 MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna dysostosis femur-fibula-ulna dysostosis Femur-fibula-ulna dysostosis Orphanet:2019 Femur-fibula-ulna complex femur-fibula-ulna dysostosis Orphanet:2019 MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna syndrome femur-fibula-ulna syndrome Femur-fibula-ulna syndrome Orphanet:2019 Femur-fibula-ulna complex femur-fibula-ulna syndrome Orphanet:2019 -MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym PFFD Orphanet:633228 Isolated proximal femoral focal deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PFFD Orphanet:633228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym Gollop-Wolfgang complex Orphanet:1986 Gollop-Wolfgang complex Gollop-Wolfgang complex Orphanet:1986 MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym bifid femur-monodactylous ectrodactyly syndrome bifid femur-monodactylous ectrodactyly syndrome Bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 Gollop-Wolfgang complex bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia oio:hasExactSynonym 46,XY DSD due to LHB deficiency Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency 46,XY DSD due to LHB deficiency Orphanet:325448 @@ -57049,7 +56062,6 @@ MONDO:0009263 GAPO syndrome oio:hasExactSynonym Growth delay-alopecia-pseudoano MONDO:0009263 GAPO syndrome oio:hasExactSynonym gapo syndrome gapo syndrome GAPO syndrome Orphanet:2067 GAPO syndrome gapo syndrome Orphanet:2067 MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis Gastroschisis Orphanet:2368 Gastroschisis gastroschisis Orphanet:2368 MONDO:0009264 gastroschisis oio:hasExactSynonym laparoschisis laparoschisis Laparoschisis Orphanet:2368 Gastroschisis laparoschisis Orphanet:2368 -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid beta-glucosidase deficiency Orphanet:355 Gaucher disease acid Beta-glucosidase deficiency Orphanet:355 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym non-cerebral juvenile Gaucher disease non-cerebral juvenile Gaucher disease Non-cerebral juvenile Gaucher disease Orphanet:77259 Gaucher disease type 1 non-cerebral juvenile Gaucher disease Orphanet:77259 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym acute neuronopathic Gaucher disease acute neuronopathic Gaucher disease Acute neuronopathic Gaucher disease Orphanet:77260 Gaucher disease type 2 acute neuronopathic Gaucher disease Orphanet:77260 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile cerebral Gaucher disease Orphanet:77260 Gaucher disease type 2 infantile cerebral Gaucher disease Orphanet:77260 @@ -57411,10 +56423,8 @@ MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym kapur-Toriello syndro MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oculocerebrofacial syndrome, Kaufman type oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial syndrome, Kaufman type Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL oculocerebrofacial syndrome, Kaufman type Orphanet:2707 MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym PPK, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type PPK, Gamborg-Nielsen type Orphanet:86923 MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym keratosis palmoplantar-periodontopathy syndrome keratosis palmoplantar-periodontopathy syndrome Keratosis palmoplantar-periodontopathy syndrome Orphanet:678 Papillon-Lefèvre syndrome keratosis palmoplantar-periodontopathy syndrome Orphanet:678 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome Haim-Munk syndrome Orphanet:2342 MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym keratosis palmoplantaris-periodontopathia-onychogryposis syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 @@ -57461,7 +56471,6 @@ MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym laryngo-ony MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome logic syndrome LOGIC syndrome Orphanet:2407 Laryngo-onycho-cutaneous syndrome logic syndrome Orphanet:2407 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome Laurence-Moon syndrome Orphanet:2377 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Orphanet:79293 Familial LCAT deficiency Norum disease Orphanet:79293 MONDO:0009515 Norum disease oio:hasExactSynonym complete LCAT deficiency complete LCAT deficiency Complete LCAT deficiency Orphanet:79293 Familial LCAT deficiency complete LCAT deficiency Orphanet:79293 MONDO:0009515 Norum disease oio:hasExactSynonym FLD Orphanet:79293 Familial LCAT deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FLD Orphanet:79293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -58052,7 +57061,6 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome oio:hasExactSynonym MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym autosomal recessive popliteal pterygium syndrome autosomal recessive popliteal pterygium syndrome Autosomal recessive popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome autosomal recessive popliteal pterygium syndrome Orphanet:1234 MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym lethal popliteal pterygium syndrome lethal popliteal pterygium syndrome Lethal popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome lethal popliteal pterygium syndrome Orphanet:1234 MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym Bartsocas-Papas syndrome Orphanet:1234 Bartsocas-Papas syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Bartsocas-Papas syndrome Orphanet:1234 -MONDO:0009902 cutaneous porphyria oio:hasExactSynonym erythropoietic porphyria erythropoietic porphyria Erythropoietic porphyria Orphanet:659681 Erythropoietic porphyria erythropoietic porphyria Orphanet:659681 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria Congenital erythropoietic porphyria Orphanet:79277 Congenital erythropoietic porphyria Congenital Erythropoietic Porphyria Orphanet:79277 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Günther disease Orphanet:79277 Congenital erythropoietic porphyria Günther disease Orphanet:79277 MONDO:0009902 cutaneous porphyria oio:hasExactSynonym CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -58112,7 +57120,6 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia Congenital alveolar capillary dysplasia Orphanet:210122 Congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia Orphanet:210122 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ACDMPV Orphanet:210122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary capillary hemangiomatosis pulmonary capillary hemangiomatosis Pulmonary capillary hemangiomatosis Orphanet:199241 Pulmonary capillary hemangiomatosis pulmonary capillary hemangiomatosis Orphanet:199241 MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Orphanet:763 Pycnodysostosis Pyknodysostosis Orphanet:763 MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis Orphanet:763 Pycnodysostosis pycnodysostosis Orphanet:763 MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym camera syndrome camera syndrome Camera syndrome Orphanet:3003 Pyknoachondrogenesis camera syndrome Orphanet:3003 @@ -58199,7 +57206,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria saccharopinur MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Orphanet:796 Sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Sandhoff disease Orphanet:796 MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome oio:hasExactSynonym Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia sarcosinemia Sarcosinemia Orphanet:3129 Sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL sarcosinemia Orphanet:3129 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym Schinzel-Giedion syndrome Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Schinzel-Giedion syndrome Orphanet:798 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly schizencephaly Schizencephaly Orphanet:799 Schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL schizencephaly Orphanet:799 @@ -58317,7 +57323,6 @@ MONDO:0010101 Teebi-Shaltout syndrome oio:hasExactSynonym Teebi-Shaltout syndro MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym Stoelinga-de Koomen-Davis syndrome Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Stoelinga-de Koomen-Davis syndrome Orphanet:2972 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ cell tumor of testis Orphanet:363504 Germ cell tumor of testis germ cell tumor of testis Orphanet:363504 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular germ cell tumor Orphanet:363504 Germ cell tumor of testis testicular germ cell tumor Orphanet:363504 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym TGCT Orphanet:66627 Tenosynovial giant cell tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TGCT Orphanet:66627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym Zimmer phocomelia Orphanet:3301 Tetraamelia-multiple malformations syndrome Zimmer phocomelia Orphanet:3301 MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym Freire-Maia syndrome Orphanet:2723 Odontotrichomelic syndrome Freire-Maia syndrome Orphanet:2723 MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym odontotrichomelic syndrome odontotrichomelic syndrome Odontotrichomelic syndrome Orphanet:2723 Odontotrichomelic syndrome odontotrichomelic syndrome Orphanet:2723 @@ -58523,7 +57528,6 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym X-linked intellectual disability, Cabezas type Orphanet:85293 X-linked intellectual disability, Cabezas type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked intellectual disability, Cabezas type Orphanet:85293 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome Robinow-Unger syndrome Orphanet:2780 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations hyperostosis generalisata with striations Hyperostosis generalisata with striations Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome hyperostosis generalisata with striations Orphanet:2780 -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker dystrophinopathy Orphanet:98895 Becker muscular dystrophy Becker dystrophinopathy Orphanet:98895 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy Orphanet:98895 Becker muscular dystrophy Becker muscular dystrophy Orphanet:98895 MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -58980,7 +57984,6 @@ MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked juvenile retinoschisis Orphanet:792 X-linked retinoschisis X-linked juvenile retinoschisis Orphanet:792 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked retinoschisis Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL X-linked retinoschisis Orphanet:792 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XLRS Orphanet:792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS Orphanet:2909 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTS Orphanet:2909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Orphanet:778 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Rett syndrome Orphanet:778 MONDO:0010728 SCARF syndrome oio:hasExactSynonym SCARF syndrome Orphanet:3134 SCARF syndrome SCARF syndrome Orphanet:3134 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Golabi-Rosen syndrome Orphanet:373 Simpson-Golabi-Behmel syndrome Golabi-Rosen syndrome Orphanet:373 @@ -59099,7 +58102,6 @@ MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym pseudoaminopterin MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym ASSA Orphanet:221120 Pseudoaminopterin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ASSA Orphanet:221120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010867 PARC syndrome oio:hasExactSynonym PARC syndrome Orphanet:2825 PARC syndrome PARC syndrome Orphanet:2825 MONDO:0010867 PARC syndrome oio:hasExactSynonym poikiloderma-alopecia-retrognathism-cleft palate syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 PARC syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Finnish tibial muscular dystrophy Orphanet:609 Tibial muscular dystrophy Finnish tibial muscular dystrophy Orphanet:609 MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Udd myopathy Orphanet:609 Tibial muscular dystrophy Udd myopathy Orphanet:609 MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym distal myopathy, Udd type distal myopathy, Udd type Distal myopathy, Udd type Orphanet:609 Tibial muscular dystrophy distal myopathy, Udd type Orphanet:609 @@ -59113,8 +58115,8 @@ MONDO:0010878 hereditary spastic paraplegia 6 oio:hasExactSynonym SPG6 Orphan MONDO:0010879 CODAS syndrome oio:hasExactSynonym CODAS syndrome Orphanet:1458 CODAS syndrome CODAS syndrome Orphanet:1458 MONDO:0010879 CODAS syndrome oio:hasExactSynonym cerebrooculodentoauriculoskeletal syndrome cerebrooculodentoauriculoskeletal syndrome Cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 CODAS syndrome cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym 8q13 microdeletion syndrome Orphanet:2496 Mesomelia-synostoses syndrome 8q13 microdeletion syndrome Orphanet:2496 -MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 +MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome Del(8)q(13) Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Verloes-David syndrome Orphanet:2496 Mesomelia-synostoses syndrome Verloes-David syndrome Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome mesomelia-synostoses syndrome Mesomelia-synostoses syndrome Orphanet:2496 Mesomelia-synostoses syndrome mesomelia-synostoses syndrome Orphanet:2496 MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Mesomelia-synostoses syndrome mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 @@ -59184,13 +58186,11 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym Marden-Walker-lik MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym van den Ende-Gupta syndrome van den Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL van den Ende-Gupta syndrome Orphanet:2460 MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym VDEGS Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VDEGS Orphanet:2460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym PCI deficiency Orphanet:71528 Obesity due to prohormone convertase I deficiency PCI deficiency Orphanet:71528 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma, Bothnian type Diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis, Parenti-Fraccaro type achondrogenesis, Parenti-Fraccaro type Achondrogenesis, Parenti-Fraccaro type Orphanet:93298 Achondrogenesis type 1B achondrogenesis, Parenti-Fraccaro type Orphanet:93298 MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Ferlini-Ragno-Calzolari syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Ferlini-Ragno-Calzolari syndrome Orphanet:2180 MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Waaler-Aarskog syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Waaler-Aarskog syndrome Orphanet:2180 MONDO:0010977 Brody myopathy oio:hasExactSynonym Brody myopathy Orphanet:53347 Brody myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brody myopathy Orphanet:53347 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy syndrome Orphanet:65283 Timothy syndrome TIMOTHY syndrome Orphanet:65283 MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Orphanet:65283 Timothy syndrome Timothy syndrome Orphanet:65283 MONDO:0010979 Timothy syndrome oio:hasExactSynonym long QT syndrome-syndactyly syndrome long QT syndrome-syndactyly syndrome Long QT syndrome-syndactyly syndrome Orphanet:65283 Timothy syndrome long QT syndrome-syndactyly syndrome Orphanet:65283 @@ -59328,7 +58328,6 @@ MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynon MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym musculocontractural Ehlers-Danlos syndrome musculocontractural Ehlers-Danlos syndrome Musculocontractural Ehlers-Danlos syndrome Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome musculocontractural Ehlers-Danlos syndrome Orphanet:2953 MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym MCEDS MCEDS mcEDS Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCEDS Orphanet:2953 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228363 CLN6 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION vLINCL Orphanet:228363 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228366 CLN7 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION vLINCL Orphanet:228366 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p mosaicism Orphanet:884 Tetrasomy 12p Isochromosome 12p mosaicism Orphanet:884 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p syndrome Orphanet:884 Tetrasomy 12p Isochromosome 12p syndrome Orphanet:884 MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Orphanet:884 Tetrasomy 12p Pallister-Killian syndrome Orphanet:884 @@ -59366,7 +58365,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym par MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym infantile convulsions and choreoathetosis infantile convulsions and choreoathetosis Infantile convulsions and choreoathetosis Orphanet:31709 Infantile convulsions and choreoathetosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL infantile convulsions and choreoathetosis Orphanet:31709 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech and language disorder with orofacial dyspraxia speech and language disorder with orofacial dyspraxia Speech and language disorder with orofacial dyspraxia Orphanet:209908 Isolated childhood apraxia of speech speech and language disorder with orofacial dyspraxia Orphanet:209908 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech-language disorder type 1 speech-language disorder type 1 Speech-language disorder type 1 Orphanet:209908 Isolated childhood apraxia of speech speech-language disorder type 1 Orphanet:209908 -MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym CAS Orphanet:56425 Cold agglutinin disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAS Orphanet:56425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Thiel-Behnke corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy Orphanet:98960 MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Waardenburg-Jonker corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy Waardenburg-Jonker corneal dystrophy Orphanet:98960 MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 2 anterior limiting membrane dystrophy type 2 Anterior limiting membrane dystrophy type 2 Orphanet:98960 Thiel-Behnke corneal dystrophy anterior limiting membrane dystrophy type 2 Orphanet:98960 @@ -59382,9 +58380,6 @@ MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynony MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 MONDO:0011202 RHYNS syndrome oio:hasExactSynonym RHYNS syndrome Orphanet:140976 RHYNS syndrome RHYNS syndrome Orphanet:140976 MONDO:0011202 RHYNS syndrome oio:hasExactSynonym retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 RHYNS syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos Disease Degos Disease Degos disease Orphanet:656071 Atrophic papulosis Degos Disease Orphanet:656071 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos disease Orphanet:656071 Atrophic papulosis Degos disease Orphanet:656071 -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Köhlmeier-Degos disease Orphanet:656071 Atrophic papulosis Köhlmeier-Degos disease Orphanet:656071 MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym malignant atrophic papulosis malignant atrophic papulosis Malignant atrophic papulosis Orphanet:679 Malignant atrophic papulosis malignant atrophic papulosis Orphanet:679 MONDO:0011213 Pierpont syndrome oio:hasExactSynonym Pierpont syndrome Orphanet:487825 Pierpont syndrome Pierpont syndrome Orphanet:487825 MONDO:0011213 Pierpont syndrome oio:hasExactSynonym plantar lipomatosis-facial dysmorphism-developmental delay syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 Pierpont syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 @@ -59482,7 +58477,6 @@ MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExact MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease Orphanet:2289 Neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease Orphanet:2289 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym spinocerebellar ataxia type 10 spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 Orphanet:98761 Spinocerebellar ataxia type 10 spinocerebellar ataxia type 10 Orphanet:98761 MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 Orphanet:98761 Spinocerebellar ataxia type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA10 Orphanet:98761 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome limb-mammary syndrome Limb-mammary syndrome Orphanet:69085 Limb-mammary syndrome limb-mammary syndrome Orphanet:69085 MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 @@ -59699,7 +58693,6 @@ MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio: MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio:hasExactSynonym woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 Carvajal syndrome http://purl.obolibrary.org/obo/OMO_0003005 woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym NFU1 deficiency Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 NFU1 deficiency Orphanet:401869 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym DSMA2 DSMA2 dSMA2 Orphanet:139525 Distal hereditary motor neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DSMA2 Orphanet:139525 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 2 autosomal recessive distal spinal muscular atrophy type 2 Autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 Distal hereditary motor neuropathy, Jerash type autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym dHMNJ Orphanet:139552 Distal hereditary motor neuropathy, Jerash type dHMNJ Orphanet:139552 MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym COIF syndrome Orphanet:79144 Isolated congenital onychodysplasia COIF syndrome Orphanet:79144 @@ -59789,7 +58782,6 @@ MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym ligase 4 syndrome li MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym DNA ligase IV deficiency Orphanet:99812 LIG4 syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL DNA ligase IV deficiency Orphanet:99812 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym autosomal dominant Charcot-Marie-Tooth disease type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym CMT2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2F Orphanet:99940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR16 Orphanet:412057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 15/16 Orphanet:98769 MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCA15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA15/16 Orphanet:98769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym Glycine N-methyltransferase deficiency Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency Orphanet:289891 @@ -59897,8 +58889,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym spastic parap MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym SPG7 Orphanet:99013 Spastic paraplegia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG7 Orphanet:99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym caspase 8 deficiency syndrome caspase 8 deficiency syndrome Caspase 8 deficiency syndrome Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency caspase 8 deficiency syndrome Orphanet:275517 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS CEDS cEDS Orphanet:287 Classical Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION CEDS Orphanet:287 -MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia osteofibrous dysplasia Osteofibrous dysplasia Orphanet:488265 Osteofibrous dysplasia osteofibrous dysplasia Orphanet:488265 MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym progressive external ophthalmoplegia and scoliosis progressive external ophthalmoplegia and scoliosis Progressive external ophthalmoplegia and scoliosis Orphanet:2744 Horizontal gaze palsy with progressive scoliosis progressive external ophthalmoplegia and scoliosis Orphanet:2744 @@ -60006,8 +58996,8 @@ MONDO:0011927 tufted angioma oio:hasExactSynonym tufted angioma tufted angioma MONDO:0011928 caudal duplication oio:hasExactSynonym dipygus dipygus Dipygus Orphanet:1756 Caudal duplication dipygus Orphanet:1756 MONDO:0011928 caudal duplication oio:hasExactSynonym split notochord syndrome split notochord syndrome Split notochord syndrome Orphanet:1756 Caudal duplication split notochord syndrome Orphanet:1756 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym 1p36 deletion syndrome Orphanet:1606 1p36 deletion syndrome 1p36 deletion syndrome Orphanet:1606 -MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 +MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome Del(1)(p36) Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1p36 deletion 1p36 Deletion 1p36 Orphanet:1606 1p36 deletion syndrome deletion 1p36 Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1pter deletion 1pter Deletion 1pter Orphanet:1606 1p36 deletion syndrome deletion 1pter Orphanet:1606 MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym monosomy 1p36 monosomy 1p36 Monosomy 1p36 Orphanet:1606 1p36 deletion syndrome monosomy 1p36 Orphanet:1606 @@ -60130,7 +59120,6 @@ MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-relate MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated FAP Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated FAP Orphanet:247798 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial polyposis coli Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli Orphanet:247798 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 -MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MAP Orphanet:679 Malignant atrophic papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MAP Orphanet:679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 1 anterior limiting membrane dystrophy type 1 Anterior limiting membrane dystrophy type 1 Orphanet:98961 Reis-Bücklers corneal dystrophy anterior limiting membrane dystrophy type 1 Orphanet:98961 MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type I anterior limiting membrane dystrophy type I Anterior limiting membrane dystrophy type I Orphanet:98961 Reis-Bücklers corneal dystrophy anterior limiting membrane dystrophy type I Orphanet:98961 MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym atypical granular corneal dystrophy atypical granular corneal dystrophy Atypical granular corneal dystrophy Orphanet:98961 Reis-Bücklers corneal dystrophy atypical granular corneal dystrophy Orphanet:98961 @@ -60317,8 +59306,8 @@ MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythem MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q subtelomere deletion syndrome Orphanet:65286 3q29 microdeletion syndrome 3q subtelomere deletion syndrome Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q29 microdeletion syndrome Orphanet:65286 3q29 microdeletion syndrome 3q29 microdeletion syndrome Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3qter deletion Orphanet:65286 3q29 microdeletion syndrome 3qter deletion Orphanet:65286 -MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Del(3)(q29) del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 +MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome Del(3)(q29) Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3q29 monosomy 3q29 Monosomy 3q29 Orphanet:65286 3q29 microdeletion syndrome monosomy 3q29 Orphanet:65286 MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3qter monosomy 3qter Monosomy 3qter Orphanet:65286 3q29 microdeletion syndrome monosomy 3qter Orphanet:65286 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction oio:hasExactSynonym syndactyly type 9 syndactyly type 9 Syndactyly type 9 Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction syndactyly type 9 Orphanet:157801 @@ -60446,7 +59435,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym SCA28 Orphan MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 autosomal dominant spastic paraplegia type 31 Orphanet:101011 MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG31 Orphanet:101011 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome Orphanet:261494 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Kleefstra syndrome Orphanet:261494 -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9Q subtelomeric deletion syndrome Orphanet:96147 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oio:hasExactSynonym PIGM-CDG Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION PIGM-CDG Orphanet:83639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod ERG cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod ERG Orphanet:209932 Cone dystrophy with supernormal rod response cone dystrophy with supernormal rod ERG Orphanet:209932 MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod electroretinogram cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal rod electroretinogram Orphanet:209932 Cone dystrophy with supernormal rod response cone dystrophy with supernormal rod electroretinogram Orphanet:209932 @@ -60459,8 +59447,6 @@ MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric a MONDO:0012481 mevalonic aciduria oio:hasExactSynonym complete mevalonate kinase deficiency complete mevalonate kinase deficiency Complete mevalonate kinase deficiency Orphanet:29 Mevalonic aciduria complete mevalonate kinase deficiency Orphanet:29 MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria mevalonic aciduria Mevalonic aciduria Orphanet:29 Mevalonic aciduria mevalonic aciduria Orphanet:29 MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MVA Orphanet:29 Mevalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MVA Orphanet:29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MKD Orphanet:309025 Mevalonate kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MKD Orphanet:309025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS Orphanet:343 Hyperimmunoglobulinemia D with periodic fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIDS Orphanet:343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMD, Geneviève type Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type SEMD, Geneviève type Orphanet:168454 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMDG Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SEMDG Orphanet:168454 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012496 Koolen-de Vries syndrome oio:hasExactSynonym KdVS Orphanet:96169 Koolen-De Vries syndrome KdVS Orphanet:96169 @@ -60628,8 +59614,8 @@ MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym severe intellectual MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym TMBTS Orphanet:420561 Temple-Baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TMBTS Orphanet:420561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oio:hasExactSynonym Balikova-Vermeesch syndrome Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome Balikova-Vermeesch syndrome Orphanet:139450 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal 22q11.2 microdeletion syndrome distal 22q11.2 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal 22q11.2 microdeletion syndrome Orphanet:261330 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) Orphanet:261330 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal monosomy 22q11.2 distal monosomy 22q11.2 Distal monosomy 22q11.2 Orphanet:261330 Distal 22q11.2 microdeletion syndrome distal monosomy 22q11.2 Orphanet:261330 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency GSD due to aldolase A deficiency Orphanet:57 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD type 12 Orphanet:57 Glycogen storage disease due to aldolase A deficiency GSD type 12 Orphanet:57 @@ -60641,8 +59627,8 @@ MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExact MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogenosis type XII glycogenosis type XII Glycogenosis type XII Orphanet:57 Glycogen storage disease due to aldolase A deficiency glycogenosis type XII Orphanet:57 MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogen storage disease due to aldolase A deficiency glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL glycogen storage disease due to aldolase A deficiency Orphanet:57 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome oio:hasExactSynonym Vuopala disease Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome Vuopala disease Orphanet:53696 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) proximal del(16)(p11.2) Proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal del(16)(p11.2) Orphanet:261197 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal monosomy 16p11.2 proximal monosomy 16p11.2 Proximal monosomy 16p11.2 Orphanet:261197 Proximal 16p11.2 microdeletion syndrome proximal monosomy 16p11.2 Orphanet:261197 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym 3q29 microduplication syndrome Orphanet:251038 3q29 microduplication syndrome 3q29 microduplication syndrome Orphanet:251038 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym trisomy 3q29 trisomy 3q29 Trisomy 3q29 Orphanet:251038 3q29 microduplication syndrome trisomy 3q29 Orphanet:251038 @@ -60652,8 +59638,8 @@ MONDO:0012764 RIDDLE syndrome oio:hasExactSynonym RIDDLE syndrome Orphanet:42 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Orphanet:171612 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym SPG37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG37 Orphanet:171612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym 15q13.3 microdeletion syndrome Orphanet:199318 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome Orphanet:199318 -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome Del(15)(q13.3) Orphanet:199318 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym monosomy 15q13.3 monosomy 15q13.3 Monosomy 15q13.3 Orphanet:199318 15q13.3 microdeletion syndrome monosomy 15q13.3 Orphanet:199318 MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type In Orphanet:244310 RFT1-CDG CDG syndrome type In Orphanet:244310 MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG-In Orphanet:244310 RFT1-CDG CDG-In Orphanet:244310 @@ -60718,8 +59704,8 @@ MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym osteopetr MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym 2q32q33 microdeletion syndrome Orphanet:251019 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Del(2)(q32) del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32) Orphanet:251019 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome Del(2)(q32q33) Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32 monosomy 2q32 Monosomy 2q32 Orphanet:251019 2q32q33 microdeletion syndrome monosomy 2q32 Orphanet:251019 MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32q33 monosomy 2q32q33 Monosomy 2q32q33 Orphanet:251019 2q32q33 microdeletion syndrome monosomy 2q32q33 Orphanet:251019 MONDO:0012866 hereditary spastic paraplegia 35 oio:hasExactSynonym autosomal recessive spastic paraplegia type 35 autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 35 Orphanet:171629 Autosomal recessive spastic paraplegia type 35 autosomal recessive spastic paraplegia type 35 Orphanet:171629 @@ -60758,16 +59744,16 @@ MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q2 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q21) Orphanet:250989 1q21.1 microdeletion syndrome Del(1)(q21) Orphanet:250989 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym monosomy 1q21.1 monosomy 1q21.1 Monosomy 1q21.1 Orphanet:250989 1q21.1 microdeletion syndrome monosomy 1q21.1 Orphanet:250989 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym 1q21.1 microduplication syndrome Orphanet:250994 1q21.1 microduplication syndrome 1q21.1 microduplication syndrome Orphanet:250994 -MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) dup(1)(q21.1) Dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 +MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome dup(1)(q21.1) Orphanet:250994 MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym trisomy 1q21.1 trisomy 1q21.1 Trisomy 1q21.1 Orphanet:250994 1q21.1 microduplication syndrome trisomy 1q21.1 Orphanet:250994 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym 2p15p16.1 microdeletion syndrome Orphanet:261349 2p15p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome Orphanet:261349 -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) Orphanet:261349 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym monosomy 2p15p16.1 monosomy 2p15p16.1 Monosomy 2p15p16.1 Orphanet:261349 2p15p16.1 microdeletion syndrome monosomy 2p15p16.1 Orphanet:261349 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym 1q41q42 microdeletion syndrome Orphanet:250999 1q41q42 microdeletion syndrome 1q41q42 microdeletion syndrome Orphanet:250999 -MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 +MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome Del(1)(q41q42) Orphanet:250999 MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym monosomy 1q41q42 monosomy 1q41q42 Monosomy 1q41q42 Orphanet:250999 1q41q42 microdeletion syndrome monosomy 1q41q42 Orphanet:250999 MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym autosomal dominant spastic paraplegia type 42 autosomal dominant spastic paraplegia type 42 Autosomal dominant spastic paraplegia type 42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 autosomal dominant spastic paraplegia type 42 Orphanet:171863 MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym SPG42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG42 Orphanet:171863 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -60821,8 +59807,8 @@ MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis o MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym DIRA Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DIRA Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym OMPP Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMPP Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013024 chronic thromboembolic pulmonary hypertension oio:hasExactSynonym CTEPH Orphanet:70591 Chronic thromboembolic pulmonary hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CTEPH Orphanet:70591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Del(6)(q25) del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 +MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome Del(6)(q25) Orphanet:251056 MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym monosomy 6q25 monosomy 6q25 Monosomy 6q25 Orphanet:251056 6q25.2q25.3 microdeletion syndrome monosomy 6q25 Orphanet:251056 MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym subepithelial mucinous corneal dystrophy subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy Orphanet:98959 Subepithelial mucinous corneal dystrophy subepithelial mucinous corneal dystrophy Orphanet:98959 MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym SMCD Orphanet:98959 Subepithelial mucinous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SMCD Orphanet:98959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -60923,8 +59909,8 @@ MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym SPG65 Orph MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym GABA transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency GABA transaminase deficiency Orphanet:2066 MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym gamma-aminobutyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency Gamma-aminobutyric acid transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency Orphanet:2066 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym 5p13 microduplication syndrome Orphanet:329802 5p13 microduplication syndrome 5p13 microduplication syndrome Orphanet:329802 -MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 +MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome dup(5)(p13) Orphanet:329802 MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym trisomy 5p13 trisomy 5p13 Trisomy 5p13 Orphanet:329802 5p13 microduplication syndrome trisomy 5p13 Orphanet:329802 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym Urban-Rifkin-Davis syndrome Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Urban-Rifkin-Davis syndrome Orphanet:221145 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym autosomal recessive cutis laxa type 1C autosomal recessive cutis laxa type 1C Autosomal recessive cutis laxa type 1C Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies autosomal recessive cutis laxa type 1C Orphanet:221145 @@ -60942,8 +59928,8 @@ MONDO:0013178 congenital muscular dystrophy due to LMNA mutation oio:hasExactSyn MONDO:0013179 hereditary spastic paraplegia 44 oio:hasExactSynonym SPG44 Orphanet:320401 Autosomal recessive spastic paraplegia type 44 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPG44 Orphanet:320401 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 duplication syndrome Orphanet:217385 17p13.3 microduplication syndrome 17p13.3 duplication syndrome Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 microduplication syndrome Orphanet:217385 17p13.3 microduplication syndrome 17p13.3 microduplication syndrome Orphanet:217385 -MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 +MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome dup(17)(p13.3) Orphanet:217385 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym trisomy 17p13.3 trisomy 17p13.3 Trisomy 17p13.3 Orphanet:217385 17p13.3 microduplication syndrome trisomy 17p13.3 Orphanet:217385 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym congenital tufting enteropathy congenital tufting enteropathy Congenital tufting enteropathy Orphanet:92050 Congenital tufting enteropathy congenital tufting enteropathy Orphanet:92050 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym intestinal epithelial dysplasia intestinal epithelial dysplasia Intestinal epithelial dysplasia Orphanet:92050 Congenital tufting enteropathy intestinal epithelial dysplasia Orphanet:92050 @@ -60985,14 +59971,14 @@ MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly oio:hasExa MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym ALX1-related frontonasal dysplasia Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ALX1-related frontonasal dysplasia Orphanet:306542 MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym frontonasal dysplasia type 3 frontonasal dysplasia type 3 Frontonasal dysplasia type 3 Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome frontonasal dysplasia type 3 Orphanet:306542 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym 14q11.2 microdeletion syndrome Orphanet:261120 14q11.2 microdeletion syndrome 14q11.2 microdeletion syndrome Orphanet:261120 -MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 +MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome Del(14)(q11.2) Orphanet:261120 MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym monosomy 14q11.2 monosomy 14q11.2 Monosomy 14q11.2 Orphanet:261120 14q11.2 microdeletion syndrome monosomy 14q11.2 Orphanet:261120 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym 16p13.3 microduplication syndrome Orphanet:96078 16p13.3 microduplication syndrome 16p13.3 microduplication syndrome Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal duplication 16p distal duplication 16p Distal duplication 16p Orphanet:96078 16p13.3 microduplication syndrome distal duplication 16p Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal trisomy 16p distal trisomy 16p Distal trisomy 16p Orphanet:96078 16p13.3 microduplication syndrome distal trisomy 16p Orphanet:96078 -MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) dup(16)(p13.3) Dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 +MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome dup(16)(p13.3) Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym telomeric duplication 16p telomeric duplication 16p Telomeric duplication 16p Orphanet:96078 16p13.3 microduplication syndrome telomeric duplication 16p Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym trisomy 16pter trisomy 16pter Trisomy 16pter Orphanet:96078 16p13.3 microduplication syndrome trisomy 16pter Orphanet:96078 MONDO:0013276 Reynolds syndrome oio:hasExactSynonym Reynolds syndrome Orphanet:779 Reynolds syndrome Reynolds syndrome Orphanet:779 @@ -61013,15 +59999,15 @@ MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type XV glycogenosis type XV Glycogenosis type XV Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenosis type XV Orphanet:263297 MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis with severe cardiomyopathy due to glycogenin deficiency glycogenosis with severe cardiomyopathy due to glycogenin deficiency Glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym 4q21 microdeletion syndrome Orphanet:238750 4q21 microdeletion syndrome 4q21 microdeletion syndrome Orphanet:238750 -MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 +MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome Del(4)(q21) Orphanet:238750 MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym monosomy 4q21 monosomy 4q21 Monosomy 4q21 Orphanet:238750 4q21 microdeletion syndrome monosomy 4q21 Orphanet:238750 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 myeloproliferative syndrome Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 8p11 myeloproliferative syndrome Orphanet:168953 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym stem cell leukemia/lymphoma stem cell leukemia/lymphoma Stem cell leukemia/lymphoma Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement stem cell leukemia/lymphoma Orphanet:168953 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym 17q21.31 microduplication syndrome Orphanet:217340 17q21.31 microduplication syndrome 17q21.31 microduplication syndrome Orphanet:217340 -MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 +MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome dup(17)(q21.31) Orphanet:217340 MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym trisomy 17q21.31 trisomy 17q21.31 Trisomy 17q21.31 Orphanet:217340 17q21.31 microduplication syndrome trisomy 17q21.31 Orphanet:217340 MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency Orphanet:91 Aromatase deficiency aromatase deficiency Orphanet:91 MONDO:0013301 aromatase deficiency oio:hasExactSynonym congenital estrogen deficiency congenital estrogen deficiency Congenital estrogen deficiency Orphanet:91 Aromatase deficiency congenital estrogen deficiency Orphanet:91 @@ -61039,8 +60025,8 @@ MONDO:0013316 occult macular dystrophy oio:hasExactSynonym occult macular dystr MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OCMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OCMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym 16p11.2p12.2 microdeletion syndrome Orphanet:261211 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome Orphanet:261211 -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Orphanet:261211 MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym monosomy 16p11.2p12.2 monosomy 16p11.2p12.2 Monosomy 16p11.2p12.2 Orphanet:261211 16p11.2p12.2 microdeletion syndrome monosomy 16p11.2p12.2 Orphanet:261211 MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type III CDG syndrome type III CDG syndrome type IIi Orphanet:263487 COG5-CDG CDG syndrome type III Orphanet:263487 MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG-III CDG-III CDG-IIi Orphanet:263487 COG5-CDG CDG-III Orphanet:263487 @@ -61079,8 +60065,8 @@ MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym co MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym CDAN4 Orphanet:293825 Congenital dyserythropoietic anemia type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CDAN4 Orphanet:293825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym 17q11 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome 17q11 microdeletion syndrome Orphanet:97685 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome NF1 microdeletion syndrome Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym monosomy 17q11 monosomy 17q11 Monosomy 17q11 Orphanet:97685 17q11 microdeletion syndrome monosomy 17q11 Orphanet:97685 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 @@ -61103,13 +60089,13 @@ MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q oio:has MONDO:0013391 sterol carrier protein 2 deficiency oio:hasExactSynonym leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym SCAR10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR10 Orphanet:284289 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) distal del(7)(q11.23) Distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 +MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal del(7)(q11.23) Orphanet:254351 MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal monosomy 7q11.23 distal monosomy 7q11.23 Distal monosomy 7q11.23 Orphanet:254351 Distal 7q11.23 microdeletion syndrome distal monosomy 7q11.23 Orphanet:254351 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome oio:hasExactSynonym porencephaly-microcephaly-bilateral congenital cataract syndrome porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym 1p31p32 microdeletion syndrome Orphanet:401986 1p31p32 microdeletion syndrome 1p31p32 microdeletion syndrome Orphanet:401986 -MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Del(1)(p31p32) del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 +MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome Del(1)(p31p32) Orphanet:401986 MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym monosomy 1p31p32 monosomy 1p31p32 Monosomy 1p31p32 Orphanet:401986 1p31p32 microdeletion syndrome monosomy 1p31p32 Orphanet:401986 MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency oio:hasExactSynonym XY sex reversal-adrenal failure Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency XY sex reversal-adrenal failure Orphanet:168558 MONDO:0013408 FADD-related immunodeficiency oio:hasExactSynonym FADD-related immunodeficiency Orphanet:306550 FADD-related immunodeficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL FADD-related immunodeficiency Orphanet:306550 @@ -61243,7 +60229,6 @@ MONDO:0013678 EDICT syndrome oio:hasExactSynonym familial keratoconus with cata MONDO:0013678 EDICT syndrome oio:hasExactSynonym KTCNCT Orphanet:293936 EDICT syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KTCNCT Orphanet:293936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 12 autosomal recessive spinocerebellar ataxia type 12 Autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym SCAR12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCAR12 Orphanet:284282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym pigmented hairy Epidermal Nevus pigmented hairy Epidermal Nevus Pigmented hairy epidermal nevus Orphanet:64755 Becker nevus syndrome pigmented hairy Epidermal Nevus Orphanet:64755 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Brunner-Winter syndrome type 2 Orphanet:391646 Feingold syndrome type 2 Brunner-Winter syndrome type 2 Orphanet:391646 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Feingold syndrome type 2 Orphanet:391646 Feingold syndrome type 2 Feingold syndrome type 2 Orphanet:391646 MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym MMT type 2 Orphanet:391646 Feingold syndrome type 2 MMT type 2 Orphanet:391646 @@ -61329,8 +60314,8 @@ MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSyn MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSynonym HSAN6 Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN6 Orphanet:314381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oio:hasExactSynonym meconium ileus due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Proximal 16p11.2 microduplication syndrome Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Orphanet:370079 -MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 +MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) Orphanet:370079 MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal trisomy 16p11.2 proximal trisomy 16p11.2 Proximal trisomy 16p11.2 Orphanet:370079 Proximal 16p11.2 microduplication syndrome proximal trisomy 16p11.2 Orphanet:370079 MONDO:0013851 autosomal dominant aplasia and myelodysplasia oio:hasExactSynonym autosomal dominant aplastic anemia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Autosomal dominant aplasia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 MONDO:0013858 pontine tegmental cap dysplasia oio:hasExactSynonym pontine tegmental cap dysplasia pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Orphanet:269229 Pontine tegmental cap dysplasia pontine tegmental cap dysplasia Orphanet:269229 @@ -61426,7 +60411,6 @@ MONDO:0013990 pontocerebellar hypoplasia type 8 oio:hasExactSynonym PCH8 Orph MONDO:0013992 obesity due to leptin receptor gene deficiency oio:hasExactSynonym obesity due to leptin receptor gene deficiency obesity due to leptin receptor gene deficiency Obesity due to leptin receptor gene deficiency Orphanet:179494 Obesity due to leptin receptor gene deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL obesity due to leptin receptor gene deficiency Orphanet:179494 MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym pontocerebellar hypoplasia-46,XY disorder of sex development syndrome pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 Pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 Orphanet:284339 Pontocerebellar hypoplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH7 Orphanet:284339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome Setleis syndrome Orphanet:1807 Focal facial dermal dysplasia type III Setleis Syndrome Orphanet:1807 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD type II Orphanet:398173 Focal facial dermal dysplasia type II FFDD type II Orphanet:398173 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 Focal facial dermal dysplasia type II focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 Orphanet:398173 Focal facial dermal dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FFDD2 Orphanet:398173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -61622,8 +60606,8 @@ MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynon MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym NBIA6 Orphanet:397725 COASY protein-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NBIA6 Orphanet:397725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome 15q11.2 microdeletion syndrome Orphanet:261183 -MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 +MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome Del(15)(q11.2) Orphanet:261183 MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym monosomy 15q11.2 monosomy 15q11.2 Monosomy 15q11.2 Orphanet:261183 15q11.2 microdeletion syndrome monosomy 15q11.2 Orphanet:261183 MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 57 Orphanet:431329 Autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Orphanet:431329 MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym spastic paraplegia due to partial TFG deficiency spastic paraplegia due to partial TFG deficiency Spastic paraplegia due to partial TFG deficiency Orphanet:431329 Autosomal recessive spastic paraplegia type 57 spastic paraplegia due to partial TFG deficiency Orphanet:431329 @@ -61847,8 +60831,6 @@ MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym progres MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 Orphanet:457265 Progressive myoclonic epilepsy type 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPM9 Orphanet:457265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oio:hasExactSynonym Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oio:hasExactSynonym microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Au-Kline syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Au-Kline syndrome Orphanet:453499 -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Okamoto syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Okamoto syndrome Orphanet:453499 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym SED, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type SED, Stanescu type Orphanet:459051 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B oio:hasExactSynonym AR-SPG9B Orphanet:447760 Autosomal recessive spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-SPG9B Orphanet:447760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -61871,8 +60853,8 @@ MONDO:0014722 Roifman syndrome oio:hasExactSynonym Roifman syndrome Orphanet: MONDO:0014722 Roifman syndrome oio:hasExactSynonym spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 Roifman syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym 17p11.2p12 microduplication syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome 17p11.2p12 microduplication syndrome Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym Yuan-Harel-Lupski syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome Yuan-Harel-Lupski syndrome Orphanet:477817 -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome dup(17)(p11.2p12) Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2-p12 trisomy 17p11.2-p12 Trisomy 17p11.2-p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome trisomy 17p11.2-p12 Orphanet:477817 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2p12 trisomy 17p11.2p12 Trisomy 17p11.2p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome trisomy 17p11.2p12 Orphanet:477817 MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oio:hasExactSynonym ASCT1 deficiency Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ASCT1 deficiency Orphanet:447997 @@ -61967,7 +60949,6 @@ MONDO:0014855 intellectual disability, autosomal dominant 42 oio:hasExactSynonym MONDO:0014856 combined oxidative phosphorylation defect type 30 oio:hasExactSynonym COXPD30 Orphanet:478042 Combined oxidative phosphorylation defect type 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COXPD30 Orphanet:478042 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart oio:hasExactSynonym rere-related neurodevelopmental syndrome rere-related neurodevelopmental syndrome RERE-related neurodevelopmental syndrome Orphanet:494344 RERE-related neurodevelopmental syndrome rere-related neurodevelopmental syndrome Orphanet:494344 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym DNAJB2-related CMT2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 DNAJB2-related CMT2 Orphanet:443950 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym spinocerebellar ataxia type 43 spinocerebellar ataxia type 43 Spinocerebellar ataxia type 43 Orphanet:497764 Spinocerebellar ataxia type 43 spinocerebellar ataxia type 43 Orphanet:497764 MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym SCA43 Orphanet:497764 Spinocerebellar ataxia type 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SCA43 Orphanet:497764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014870 NEK9-related lethal skeletal dysplasia oio:hasExactSynonym lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 NEK9-related lethal skeletal dysplasia lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 @@ -62050,7 +61031,6 @@ MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oi MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym Raas-blocker-induced angioneurotic edema Raas-blocker-induced angioneurotic edema RAAS-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema Raas-blocker-induced angioneurotic edema Orphanet:100057 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAE Orphanet:100057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RAE Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of PPA Orphanet:100070 Progressive non-fluent aphasia Agramatic variant of PPA Orphanet:100070 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of primary progressive aphasia Orphanet:100070 Progressive non-fluent aphasia Agramatic variant of primary progressive aphasia Orphanet:100070 MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym non-fluent variant PPA non-fluent variant PPA Non-fluent variant PPA Orphanet:100070 Progressive non-fluent aphasia non-fluent variant PPA Orphanet:100070 @@ -62085,9 +61065,6 @@ MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus art MONDO:0015104 porphyria cutanea tarda oio:hasExactSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym chronic adrenocorticoid insufficiency chronic adrenocorticoid insufficiency Chronic adrenocorticoid insufficiency Orphanet:101959 Chronic primary adrenal insufficiency chronic adrenocorticoid insufficiency Orphanet:101959 MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym CPAI Orphanet:101959 Chronic primary adrenal insufficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPAI Orphanet:101959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Orphanet:85138 Addison disease Addison disease Orphanet:85138 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison disease autoimmune Addison disease Autoimmune Addison disease Orphanet:85138 Addison disease autoimmune Addison disease Orphanet:85138 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease autoimmune adrenalitis Orphanet:85138 MONDO:0015134 constitutional neutropenia oio:hasExactSynonym congenital neutropenia congenital neutropenia Congenital neutropenia Orphanet:101987 Congenital neutropenia congenital neutropenia Orphanet:101987 MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym early-onset familial autosomal dominant Alzheimer disease early-onset familial autosomal dominant Alzheimer disease Early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 Early-onset autosomal dominant Alzheimer disease early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym EOFAD Orphanet:1020 Early-onset autosomal dominant Alzheimer disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EOFAD Orphanet:1020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -62127,7 +61104,6 @@ MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynony MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynonym maltase-glucoamylase deficiency maltase-glucoamylase deficiency Maltase-glucoamylase deficiency Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency maltase-glucoamylase deficiency Orphanet:103907 MONDO:0015170 congenital sodium diarrhea oio:hasExactSynonym Na-H exchange deficiency Orphanet:103908 Congenital sodium diarrhea Na-H exchange deficiency Orphanet:103908 MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 Metaphyseal anadysplasia Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym regressive metaphyseal dysplasia regressive metaphyseal dysplasia Regressive metaphyseal dysplasia Orphanet:1040 Metaphyseal anadysplasia regressive metaphyseal dysplasia Orphanet:1040 MONDO:0015193 hydrops fetalis oio:hasExactSynonym fetal anasarca fetal anasarca Fetal anasarca Orphanet:1041 Hydrops fetalis fetal anasarca Orphanet:1041 @@ -62189,7 +61165,6 @@ MONDO:0015263 Brugada syndrome oio:hasExactSynonym idiopathic ventricular fibri MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome Orphanet:130 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Brugada syndrome Orphanet:130 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organizing pneumonia bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia Orphanet:1302 Cryptogenic organizing pneumonia bronchiolitis obliterans organizing pneumonia Orphanet:1302 MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym COP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION COP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION BOOP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans constrictive bronchiolitis Orphanet:1303 MONDO:0015267 Feingold syndrome oio:hasExactSynonym Brunner-Winter syndrome Orphanet:1305 Feingold syndrome Brunner-Winter syndrome Orphanet:1305 MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome Orphanet:1305 Feingold syndrome MODED syndrome Orphanet:1305 @@ -62288,7 +61263,6 @@ MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:has MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy autosomal recessive distal spinal muscular atrophy Autosomal recessive distal spinal muscular atrophy Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy autosomal recessive distal spinal muscular atrophy Orphanet:140468 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy Orphanet:140471 Hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Orphanet:140471 MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym HSAN Orphanet:140471 Hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN Orphanet:140471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym Joubert syndrome and related disorders Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Joubert syndrome and related disorders Orphanet:140874 MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym JSRD Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION JSRD Orphanet:140874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015374 primary central nervous system vasculitis oio:hasExactSynonym isolated angiitis of the central nervous system isolated angiitis of the central nervous system Isolated angiitis of the central nervous system Orphanet:140989 Primary angiitis of the central nervous system isolated angiitis of the central nervous system Orphanet:140989 @@ -62301,7 +61275,6 @@ MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome Orphanet:140997 Orofaciodigital syndrome oral-facial-digital syndrome Orphanet:140997 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome Orphanet:140997 Orofaciodigital syndrome orofaciodigital syndrome Orphanet:140997 MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst Orphanet:141013 First branchial cleft anomaly first branchial cleft cyst Orphanet:141013 MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft fistula first branchial cleft fistula First branchial cleft fistula Orphanet:141013 First branchial cleft anomaly first branchial cleft fistula Orphanet:141013 MONDO:0015377 third branchial cleft anomaly oio:hasExactSynonym third branchial cleft cyst third branchial cleft cyst Third branchial cleft cyst Orphanet:141030 Third branchial cleft anomaly third branchial cleft cyst Orphanet:141030 @@ -62363,8 +61336,8 @@ MONDO:0015430 ring chromosome 1 oio:hasExactSynonym r(1) syndrome Orphanet:14 MONDO:0015436 ring chromosome 20 oio:hasExactSynonym ring chromosome 20 syndrome ring chromosome 20 syndrome Ring chromosome 20 syndrome Orphanet:1444 Ring chromosome 20 syndrome ring chromosome 20 syndrome Orphanet:1444 MONDO:0015438 ring chromosome 22 oio:hasExactSynonym r(22) syndrome Orphanet:1446 Ring chromosome 22 syndrome r(22) syndrome Orphanet:1446 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym r(4) syndrome Orphanet:1447 Ring chromosome 4 syndrome r(4) syndrome Orphanet:1447 -MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) syndrome r(4) Syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 +MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome syndrome r(4) Orphanet:1447 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym Ring 8 Orphanet:1450 Ring chromosome 8 syndrome Ring 8 Orphanet:1450 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym r(8) syndrome Orphanet:1450 Ring chromosome 8 syndrome r(8) syndrome Orphanet:1450 MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym ring chromosome 8 ring chromosome 8 Ring chromosome 8 Orphanet:1450 Ring chromosome 8 syndrome ring chromosome 8 Orphanet:1450 @@ -62390,7 +61363,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym CSS Orphanet:1465 Cof MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome Orphanet:1467 Cogan syndrome Cogan syndrome Orphanet:1467 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency multiple carboxylase deficiency Orphanet:148 MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oio:hasExactSynonym Da Silva syndrome Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Da Silva syndrome Orphanet:1495 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma Orphanet:150 Nasopharyngeal carcinoma nasopharyngeal carcinoma Orphanet:150 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasopharynx squamous cell carcinoma of the nasopharynx Squamous cell carcinoma of the nasopharynx Orphanet:150 Nasopharyngeal carcinoma squamous cell carcinoma of the nasopharynx Orphanet:150 @@ -62499,7 +61471,6 @@ MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym localized pu MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris palmoplantar pustulosis Orphanet:163927 MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym PPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:525 Lichen planopilaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015600 X-linked intellectual disability, Cilliers type oio:hasExactSynonym X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 X-linked intellectual disability, Cilliers type X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 MONDO:0015605 distal monosomy 9p oio:hasExactSynonym distal deletion 9p distal deletion 9p Distal deletion 9p Orphanet:1642 Distal deletion 9p distal deletion 9p Orphanet:1642 MONDO:0015605 distal monosomy 9p oio:hasExactSynonym monosomy 9pter monosomy 9pter Monosomy 9pter Orphanet:1642 Distal deletion 9p monosomy 9pter Orphanet:1642 @@ -62719,12 +61690,10 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015923 acquired peripheral neuropathy oio:hasExactSynonym acquired peripheral neuropathy acquired peripheral neuropathy Acquired peripheral neuropathy Orphanet:182086 Acquired peripheral neuropathy acquired peripheral neuropathy Orphanet:182086 MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym pulmonary arterial hypertension pulmonary arterial hypertension Pulmonary arterial hypertension Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL pulmonary arterial hypertension Orphanet:182090 MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAH Orphanet:182090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:99083 Pulmonary artery hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAH Orphanet:99083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015925 interstitial lung disease oio:hasExactSynonym interstitial lung disease interstitial lung disease Interstitial lung disease Orphanet:182095 Interstitial lung disease interstitial lung disease Orphanet:182095 MONDO:0015925 interstitial lung disease oio:hasExactSynonym ILD Orphanet:182095 Interstitial lung disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ILD Orphanet:182095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome oio:hasExactSynonym Finucane-Kurtz-Scott syndrome Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Finucane-Kurtz-Scott syndrome Orphanet:1825 MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia Orphanet:1826 Frontometaphyseal dysplasia frontometaphyseal dysplasia Orphanet:1826 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym CSS Orphanet:1465 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSS Orphanet:1465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym Churg-Strauss syndrome Orphanet:183 Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome Orphanet:183 MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym granulomatous allergic angiitis granulomatous allergic angiitis Granulomatous allergic angiitis Orphanet:183 Eosinophilic granulomatosis with polyangiitis granulomatous allergic angiitis Orphanet:183 MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym EGPA Orphanet:183 Eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EGPA Orphanet:183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -62743,7 +61712,6 @@ MONDO:0015987 scimitar syndrome oio:hasExactSynonym congenital pulmonary venolo MONDO:0015987 scimitar syndrome oio:hasExactSynonym hypogenetic lung syndrome hypogenetic lung syndrome Hypogenetic lung syndrome Orphanet:185 Scimitar syndrome hypogenetic lung syndrome Orphanet:185 MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym multicystic renal dysplasia multicystic renal dysplasia Multicystic renal dysplasia Orphanet:1851 Multicystic dysplastic kidney multicystic renal dysplasia Orphanet:1851 MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym MCDK Orphanet:1851 Multicystic dysplastic kidney http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCDK Orphanet:1851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym CRD Orphanet:71 Chylomicron retention disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CRD Orphanet:71 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym MSBD syndrome Orphanet:1879 Melorheostosis with osteopoikilosis MSBD syndrome Orphanet:1879 MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym mixed sclerosing bone dystrophy mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy Orphanet:1879 Melorheostosis with osteopoikilosis mixed sclerosing bone dystrophy Orphanet:1879 MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome oio:hasExactSynonym noble-Bass-Sherman syndrome noble-Bass-Sherman syndrome Noble-Bass-Sherman syndrome Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome noble-Bass-Sherman syndrome Orphanet:1884 @@ -62812,7 +61780,6 @@ MONDO:0016045 tetragametic chimerism oio:hasExactSynonym 46,XX/46,XY chimerism MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 Cleft lip-retinopathy syndrome Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-cone rod dystrophy syndrome cleft lip-cone rod dystrophy syndrome Cleft lip-cone rod dystrophy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome cleft lip-cone rod dystrophy syndrome Orphanet:1995 MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-progressive retinopathy syndrome cleft lip-progressive retinopathy syndrome Cleft lip-progressive retinopathy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome cleft lip-progressive retinopathy syndrome Orphanet:1995 -MONDO:0016056 isolated congenital microcephaly oio:hasExactSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly true microcephaly Orphanet:2512 MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome oio:hasExactSynonym Lowry-Yong syndrome Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome Lowry-Yong syndrome Orphanet:2003 MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Orphanet:2004 Laryngotracheoesophageal cleft laryngo-tracheo-esophageal cleft Orphanet:2004 MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal diastema laryngo-tracheo-esophageal diastema Laryngo-tracheo-esophageal diastema Orphanet:2004 Laryngotracheoesophageal cleft laryngo-tracheo-esophageal diastema Orphanet:2004 @@ -62849,8 +61816,6 @@ MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency oio:hasE MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, classic form Orphanet:206436 Infantile Krabbe disease Krabbe disease, classic form Orphanet:206436 MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, early-onset Orphanet:206436 Infantile Krabbe disease Krabbe disease, early-onset Orphanet:206436 MONDO:0016090 late-infantile/juvenile Krabbe disease oio:hasExactSynonym Krabbe disease, late-onset Orphanet:206443 Late-infantile/juvenile Krabbe disease Krabbe disease, late-onset Orphanet:206443 -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym serous cystadenoma of ovary in childhood serous cystadenoma of ovary in childhood Serous cystadenoma of ovary in childhood Orphanet:563666 Serous cystadenoma of childhood serous cystadenoma of ovary in childhood Orphanet:563666 -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym mucinous cystadenoma of ovary in childhood mucinous cystadenoma of ovary in childhood Mucinous cystadenoma of ovary in childhood Orphanet:563671 Mucinous cystadenoma of childhood mucinous cystadenoma of ovary in childhood Orphanet:563671 MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym vaginal germ cell cancer vaginal germ cell cancer Vaginal germ cell cancer Orphanet:206489 Malignant germ cell tumor of the vagina vaginal germ cell cancer Orphanet:206489 MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary oio:hasExactSynonym non-dysgerminomatous germ cell cancer of ovary non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 MONDO:0016098 immune-mediated necrotizing myopathy oio:hasExactSynonym anti-HMG-CoA myopathy anti-HMG-CoA myopathy Anti-HMG-CoA myopathy Orphanet:206569 Immune-mediated necrotizing myopathy anti-HMG-CoA myopathy Orphanet:206569 @@ -62869,16 +61834,12 @@ MONDO:0016105 acquired skeletal muscle disease oio:hasExactSynonym acquired ske MONDO:0016106 progressive muscular dystrophy oio:hasExactSynonym progressive muscular dystrophy progressive muscular dystrophy Progressive muscular dystrophy Orphanet:206644 Progressive muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL progressive muscular dystrophy Orphanet:206644 MONDO:0016112 hereditary inclusion-body myopathy oio:hasExactSynonym inclusion myopathy inclusion myopathy Inclusion myopathy Orphanet:206662 Inclusion myopathy inclusion myopathy Orphanet:206662 MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym bulbospinal muscular atrophy bulbospinal muscular atrophy Bulbospinal muscular atrophy Orphanet:206701 Bulbospinal muscular atrophy bulbospinal muscular atrophy Orphanet:206701 -MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym SBMA Orphanet:481 Kennedy disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SBMA Orphanet:481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016122 periodic paralysis oio:hasExactSynonym periodic paralysis periodic paralysis Periodic paralysis Orphanet:206976 Periodic paralysis periodic paralysis Orphanet:206976 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic enteritis eosinophilic enteritis Eosinophilic enteritis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic enteritis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic gastroenteritis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic gastroenteritis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenterocolitis eosinophilic gastroenterocolitis Eosinophilic gastroenterocolitis Orphanet:2070 Eosinophilic gastroenteritis eosinophilic gastroenterocolitis Orphanet:2070 MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym EGE Orphanet:2070 Eosinophilic gastroenteritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EGE Orphanet:2070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016140 sarcoglycanopathy oio:hasExactSynonym qualitative or quantitative defects of sarcoglycan qualitative or quantitative defects of sarcoglycan Qualitative or quantitative defects of sarcoglycan Orphanet:207052 Qualitative or quantitative defects of sarcoglycan qualitative or quantitative defects of sarcoglycan Orphanet:207052 -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan oio:hasExactSynonym alpha-sarcoglycanopathy alpha-sarcoglycanopathy Alpha-sarcoglycanopathy Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 alpha-sarcoglycanopathy Orphanet:62 -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan oio:hasExactSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 beta-sarcoglycanopathy Orphanet:119 -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan oio:hasExactSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 delta-sarcoglycanopathy Orphanet:219 MONDO:0016145 qualitative or quantitative defects of dysferlin oio:hasExactSynonym dysferlinopathy dysferlinopathy Dysferlinopathy Orphanet:207073 Qualitative or quantitative defects of dysferlin dysferlinopathy Orphanet:207073 MONDO:0016146 caveolinopathy oio:hasExactSynonym qualitative or quantitative defects of caveolin-3 qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of caveolin-3 Orphanet:207078 Qualitative or quantitative defects of caveolin-3 qualitative or quantitative defects of caveolin-3 Orphanet:207078 MONDO:0016147 qualitative or quantitative defects of dystrophin oio:hasExactSynonym dystrophinopathy dystrophinopathy Dystrophinopathy Orphanet:207085 Qualitative or quantitative defects of dystrophin dystrophinopathy Orphanet:207085 @@ -63131,19 +62092,19 @@ MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym pi MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym trichodysplasia spinulosa trichodysplasia spinulosa Trichodysplasia spinulosa Orphanet:228379 Virus-associated trichodysplasia spinulosa trichodysplasia spinulosa Orphanet:228379 MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym VATS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION VATS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Del(5)(q14.3) del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 +MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome Del(5)(q14.3) Orphanet:228384 MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym monosomy 5q14.3 monosomy 5q14.3 Monosomy 5q14.3 Orphanet:228384 5q14.3 microdeletion syndrome monosomy 5q14.3 Orphanet:228384 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) dup(8)(q12) Dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome dup(8)(q12) Orphanet:228399 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome dup(8)(q12) Orphanet:228399 MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym trisomy 8q12 trisomy 8q12 Trisomy 8q12 Orphanet:228399 8q12 microduplication syndrome trisomy 8q12 Orphanet:228399 -MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 +MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome Del(2)(q23.1) Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q23.1 monosomy 2q23.1 Monosomy 2q23.1 Orphanet:228402 2q23.1 microdeletion syndrome monosomy 2q23.1 Orphanet:228402 MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym pseudo-Angelman syndrome pseudo-Angelman syndrome Pseudo-Angelman syndrome Orphanet:228402 2q23.1 microdeletion syndrome pseudo-Angelman syndrome Orphanet:228402 MONDO:0016460 polyvalvular heart disease syndrome oio:hasExactSynonym PHD syndrome Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome PHD syndrome Orphanet:228410 -MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 +MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome dup(5)(q35) Orphanet:228415 MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym trisomy 5q35 trisomy 5q35 Trisomy 5q35 Orphanet:228415 5q35 microduplication syndrome trisomy 5q35 Orphanet:228415 MONDO:0016462 isolated agammaglobulinemia oio:hasExactSynonym isolated hypogammaglobulinemia isolated hypogammaglobulinemia Isolated hypogammaglobulinemia Orphanet:229717 Isolated agammaglobulinemia isolated hypogammaglobulinemia Orphanet:229717 MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym syndromic agammaglobulinemia syndromic agammaglobulinemia Syndromic agammaglobulinemia Orphanet:229720 Syndromic agammaglobulinemia syndromic agammaglobulinemia Orphanet:229720 @@ -63162,8 +62123,8 @@ MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predis MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym RTPS Orphanet:231108 Rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RTPS Orphanet:231108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym DILE Orphanet:231111 Drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DILE Orphanet:231111 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 +MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oio:hasExactSynonym UPD(11)mat Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 UPD(11)mat Orphanet:231147 @@ -63269,7 +62230,6 @@ MONDO:0016571 macrocephaly-short stature-paraplegia syndrome oio:hasExactSynonym MONDO:0016573 acute fatty liver of pregnancy oio:hasExactSynonym AFLP Orphanet:243367 Acute fatty liver of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AFLP Orphanet:243367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oio:hasExactSynonym Westerhof-Beemer-Cormane syndrome Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Westerhof-Beemer-Cormane syndrome Orphanet:2435 MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly ectrodactyly Ectrodactyly Orphanet:2440 Isolated split hand-split foot malformation ectrodactyly Orphanet:2440 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split hand foot malformation split hand foot malformation Split hand foot malformation Orphanet:2440 Isolated split hand-split foot malformation split hand foot malformation Orphanet:2440 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym SHFM Orphanet:2440 Isolated split hand-split foot malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SHFM Orphanet:2440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -63344,7 +62304,6 @@ MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym median cleft face syndr MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic primary progressive aphasia Orphanet:250831 Logopenic progressive aphasia Logopenic primary progressive aphasia Orphanet:250831 MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic variant PPA Orphanet:250831 Logopenic progressive aphasia Logopenic variant PPA Orphanet:250831 MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:250831 Logopenic progressive aphasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPA Orphanet:250831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:658574 Isolated pulmonary artery sling http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPA Orphanet:658574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia Polyepiphyseal dysplasia Orphanet:251 MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym polyepiphyseal dysplasia polyepiphyseal dysplasia Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia polyepiphyseal dysplasia Orphanet:251 MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym multiple epiphyseal dysplasia multiple epiphyseal dysplasia Multiple epiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL multiple epiphyseal dysplasia Orphanet:251 @@ -63355,23 +62314,23 @@ MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome micro s MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym WARBM Orphanet:2510 Micro syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION WARBM Orphanet:2510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016650 paternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)pat Orphanet:251004 Paternal uniparental disomy of chromosome 1 UPD(1)pat Orphanet:251004 MONDO:0016651 maternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)mat Orphanet:251009 Maternal uniparental disomy of chromosome 1 UPD(1)mat Orphanet:251009 -MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 +MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome Del(2)(q31.1) Orphanet:251014 MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q31.1 monosomy 2q31.1 Monosomy 2q31.1 Orphanet:251014 2q31.1 microdeletion syndrome monosomy 2q31.1 Orphanet:251014 -MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Del(2)(q33.1) del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 +MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Del(2)(q33.1) Orphanet:251028 MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q33.1 monosomy 2q33.1 Monosomy 2q33.1 Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement monosomy 2q33.1 Orphanet:251028 -MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Del(6)(p22) del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 +MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome Del(6)(p22) Orphanet:251046 MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym monosomy 6p22 monosomy 6p22 Monosomy 6p22 Orphanet:251046 6p22 microdeletion syndrome monosomy 6p22 Orphanet:251046 -MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Del(7)(q31) del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 +MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome Del(7)(q31) Orphanet:251061 MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym monosomy 7q31 monosomy 7q31 Monosomy 7q31 Orphanet:251061 7q31 microdeletion syndrome monosomy 7q31 Orphanet:251061 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Del(8)(p11.2) del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome Del(8)(p11.2) Orphanet:251066 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome Del(8)(p11.2) Orphanet:251066 MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym monosomy 8p11.2 monosomy 8p11.2 Monosomy 8p11.2 Orphanet:251066 8p11.2 deletion syndrome monosomy 8p11.2 Orphanet:251066 -MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Del(8)(p23.1) del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 +MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome Del(8)(p23.1) Orphanet:251071 MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym monosomy 8p23.1 monosomy 8p23.1 Monosomy 8p23.1 Orphanet:251071 8p23.1 microdeletion syndrome monosomy 8p23.1 Orphanet:251071 MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) dup(8)(p23.1p23.1) Dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome dup(8)(p23.1p23.1) Orphanet:251076 MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome dup(8)(p23.1p23.1) Orphanet:251076 @@ -63481,10 +62440,10 @@ MONDO:0016776 frontal fibrosing alopecia oio:hasExactSynonym FFA Orphanet:254 MONDO:0016777 inhalational botulism oio:hasExactSynonym inhalation botulism inhalation botulism Inhalation botulism Orphanet:254504 Inhalational botulism inhalation botulism Orphanet:254504 MONDO:0016778 iatrogenic botulism oio:hasExactSynonym inadvertent botulism inadvertent botulism Inadvertent botulism Orphanet:254509 Iatrogenic botulism inadvertent botulism Orphanet:254509 MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect oio:hasExactSynonym Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome Kagami-Ogata syndrome Orphanet:254519 -MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 -MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 +MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion paternal del(14)(q32.2) Orphanet:254525 MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) maternal del(14)(q32.2) Maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 +MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal del(14)(q32.2) Orphanet:254528 MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal monosomy 14q32.2 maternal monosomy 14q32.2 Maternal monosomy 14q32.2 Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion maternal monosomy 14q32.2 Orphanet:254528 MONDO:0016785 complete hydatidiform mole oio:hasExactSynonym complete molar pregnancy complete molar pregnancy Complete molar pregnancy Orphanet:254688 Complete hydatidiform mole complete molar pregnancy Orphanet:254688 MONDO:0016786 partial hydatidiform mole oio:hasExactSynonym incomplete hydatidiform mole incomplete hydatidiform mole Incomplete hydatidiform mole Orphanet:254693 Partial hydatidiform mole incomplete hydatidiform mole Orphanet:254693 @@ -63522,8 +62481,8 @@ MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreif MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym EDMD Orphanet:261 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EDMD Orphanet:261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016831 linear verrucous nevus syndrome oio:hasExactSynonym linear hamartoma syndrome linear hamartoma syndrome Linear hamartoma syndrome Orphanet:2611 Linear verrucous nevus syndrome linear hamartoma syndrome Orphanet:2611 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym Dup7q11.23D Orphanet:261102 Distal 7q11.23 microduplication syndrome Dup7q11.23D Orphanet:261102 -MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) distal dup(7)(q11.23) Distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 +MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome distal dup(7)(q11.23) Orphanet:261102 MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal trisomy 7q11.23 distal trisomy 7q11.23 Distal trisomy 7q11.23 Orphanet:261102 Distal 7q11.23 microduplication syndrome distal trisomy 7q11.23 Orphanet:261102 MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion Del(14)(q12) Orphanet:261144 MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Del(14)(q12) del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion Del(14)(q12) Orphanet:261144 @@ -63531,23 +62490,23 @@ MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym monosomy 14q12 m MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) dup(16)(p11.2p12.2) Dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome dup(16)(p11.2p12.2) Orphanet:261204 MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome dup(16)(p11.2p12.2) Orphanet:261204 MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym trisomy 16p11.2p12.2 trisomy 16p11.2p12.2 Trisomy 16p11.2p12.2 Orphanet:261204 16p11.2p12.2 microduplication syndrome trisomy 16p11.2p12.2 Orphanet:261204 -MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 +MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome dup(14)(q11.2) Orphanet:261229 MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym trisomy 14q11.2 trisomy 14q11.2 Trisomy 14q11.2 Orphanet:261229 14q11.2 microduplication syndrome trisomy 14q11.2 Orphanet:261229 -MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Del(16)(p13.11) del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 +MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome Del(16)(p13.11) Orphanet:261236 MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym monosomy 16p13.11 monosomy 16p13.11 Monosomy 16p13.11 Orphanet:261236 16p13.11 microdeletion syndrome monosomy 16p13.11 Orphanet:261236 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome dup(16)(p13.11) Orphanet:261243 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) dup(16)(p13.11) Dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome dup(16)(p13.11) Orphanet:261243 MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym trisomy 16p13.11 trisomy 16p13.11 Trisomy 16p13.11 Orphanet:261243 16p13.11 microduplication syndrome trisomy 16p13.11 Orphanet:261243 -MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Del(16)(q24.3) del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 +MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome Del(16)(q24.3) Orphanet:261250 MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.3 monosomy 16q24.3 Monosomy 16q24.3 Orphanet:261250 16q24.3 microdeletion syndrome monosomy 16q24.3 Orphanet:261250 MONDO:0016839 distal 17p13.3 microdeletion syndrome oio:hasExactSynonym distal monosomy 17p13.3 distal monosomy 17p13.3 Distal monosomy 17p13.3 Orphanet:261257 Distal 17p13.3 microdeletion syndrome distal monosomy 17p13.3 Orphanet:261257 MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) Orphanet:261290 Trisomy 17p dup(17p) Orphanet:261290 MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) dup(17p) Dup(17p) Orphanet:261290 Trisomy 17p dup(17p) Orphanet:261290 -MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Del(20)(p12.3) del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 +MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome Del(20)(p12.3) Orphanet:261295 MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym monosomy 20p12.3 monosomy 20p12.3 Monosomy 20p12.3 Orphanet:261295 20p12.3 microdeletion syndrome monosomy 20p12.3 Orphanet:261295 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) Orphanet:261304 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) paternal del(20)(q13.2q13.3) Paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) Orphanet:261304 @@ -63556,18 +62515,18 @@ MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.3 MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome Del(20)(q13.33) Orphanet:261311 MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym monosomy 20q13.33 monosomy 20q13.33 Monosomy 20q13.33 Orphanet:261311 20q13.33 microdeletion syndrome monosomy 20q13.33 Orphanet:261311 MONDO:0016844 trisomy 20p oio:hasExactSynonym Duplication of 20p Orphanet:261318 Trisomy 20p Duplication of 20p Orphanet:261318 -MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) dup(20p) Dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 +MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p dup(20p) Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of chromosome 20p partial duplication of chromosome 20p Partial duplication of chromosome 20p Orphanet:261318 Trisomy 20p partial duplication of chromosome 20p Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of the short arm of chromosome 20 partial duplication of the short arm of chromosome 20 Partial duplication of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p partial duplication of the short arm of chromosome 20 Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of chromosome 20p partial trisomy of chromosome 20p Partial trisomy of chromosome 20p Orphanet:261318 Trisomy 20p partial trisomy of chromosome 20p Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of the short arm of chromosome 20 partial trisomy of the short arm of chromosome 20 Partial trisomy of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p partial trisomy of the short arm of chromosome 20 Orphanet:261318 MONDO:0016844 trisomy 20p oio:hasExactSynonym trisomy 20p trisomy 20p Trisomy 20p Orphanet:261318 Trisomy 20p trisomy 20p Orphanet:261318 -MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 +MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Orphanet:261323 MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym monosomy 21q22.11q22.12 monosomy 21q22.11q22.12 Monosomy 21q22.11q22.12 Orphanet:261323 21q22.11q22.12 microdeletion syndrome monosomy 21q22.11q22.12 Orphanet:261323 -MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) distal dup(22)(q11.2) Distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 +MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome distal dup(22)(q11.2) Orphanet:261337 MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal trisomy 22q11.2 distal trisomy 22q11.2 Distal trisomy 22q11.2 Orphanet:261337 Distal 22q11.2 microduplication syndrome distal trisomy 22q11.2 Orphanet:261337 MONDO:0016847 trisomy 1q oio:hasExactSynonym Duplication 1q Orphanet:261344 Trisomy 1q Duplication 1q Orphanet:261344 MONDO:0016848 juvenile temporal arteritis oio:hasExactSynonym non-giant cell granulomatous temporal arteritis with eosinophilia non-giant cell granulomatous temporal arteritis with eosinophilia Non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Juvenile temporal arteritis non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 @@ -63584,17 +62543,17 @@ MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hi MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation oio:hasExactSynonym Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym FAP due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion FAP due to monosomy 5q22.2 Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym colorectal adenomatous polyposis due to monosomy 5q22.2 colorectal adenomatous polyposis due to monosomy 5q22.2 Colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to monosomy 5q22.2 familial adenomatous polyposis due to monosomy 5q22.2 Familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial polyposis coli due to monosomy 5q22.2 familial polyposis coli due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Alagille syndrome due to del(20)(p12) alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to monosomy 20p12 Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 @@ -63604,8 +62563,8 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym syndromic bile duct paucity due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation Syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym Alagille syndrome due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Alagille syndrome due to a JAG1 point mutation Orphanet:261619 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 +MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to del(20)(q13) Orphanet:261638 MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to monosomy 20q13 Orphanet:261638 MONDO:0016864 Okihiro syndrome due to a point mutation oio:hasExactSynonym Duane-radial ray syndrome due to a point mutation Orphanet:261647 Okihiro syndrome due to a point mutation Duane-radial ray syndrome due to a point mutation Orphanet:261647 MONDO:0016866 partial deletion of chromosome 1 oio:hasExactSynonym partial monosomy of chromosome 1 partial monosomy of chromosome 1 Partial monosomy of chromosome 1 Orphanet:261766 Partial deletion of chromosome 1 partial monosomy of chromosome 1 Orphanet:261766 @@ -63839,7 +62798,6 @@ MONDO:0016984 nevus of Ota oio:hasExactSynonym Nevus fusculoceruleus ophthalmom MONDO:0016985 nevus of Ito oio:hasExactSynonym nevus fuscocaeruleus acromiodeltoideus nevus fuscocaeruleus acromiodeltoideus Nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 Nevus of Ito nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 MONDO:0016988 hyperinsulinism due to HNF4A deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to HNF4A deficiency hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired hypoprothrombinemia acquired hypoprothrombinemia Acquired hypoprothrombinemia Orphanet:26348 Acquired prothrombin deficiency acquired hypoprothrombinemia Orphanet:26348 MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired prothrombin deficiency acquired prothrombin deficiency Acquired prothrombin deficiency Orphanet:26348 Acquired prothrombin deficiency acquired prothrombin deficiency Orphanet:26348 MONDO:0016991 acute necrotizing encephalopathy of childhood oio:hasExactSynonym isolated ANE isolated ANE Isolated ANE Orphanet:263524 Acute necrotizing encephalopathy of childhood isolated ANE Orphanet:263524 @@ -63863,7 +62821,6 @@ MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSy MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial duplication of chromosome 1p partial duplication of chromosome 1p Partial duplication of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 partial duplication of chromosome 1p Orphanet:264431 MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial trisomy of chromosome 1p partial trisomy of chromosome 1p Partial trisomy of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 partial trisomy of chromosome 1p Orphanet:264431 MONDO:0017013 trisomy 8p oio:hasExactSynonym Duplication 8p Orphanet:264450 Trisomy 8p Duplication 8p Orphanet:264450 -MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym chILD syndrome chILD syndrome CHILD syndrome Orphanet:139 CHILD syndrome chILD syndrome Orphanet:139 MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym ILD specific to childhood Orphanet:264656 Interstitial lung disease specific to childhood ILD specific to childhood Orphanet:264656 MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary ILD specific to childhood primary ILD specific to childhood Primary ILD specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood primary ILD specific to childhood Orphanet:264665 MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary interstitial lung disease specific to childhood primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood primary interstitial lung disease specific to childhood Orphanet:264665 @@ -63962,11 +62919,10 @@ MONDO:0017176 Machado-Joseph disease type 3 oio:hasExactSynonym spinocerebellar MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome oio:hasExactSynonym HHML Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HHML Orphanet:276280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym König disease Orphanet:2764 Osteochondritis dissecans König disease Orphanet:2764 MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis dissecans Orphanet:2764 Osteochondritis dissecans osteochondritis dissecans Orphanet:2764 -MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 +MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome dup(10)(q22.3q23.3) Orphanet:276422 MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym trisomy 10q22.3q23.3 trisomy 10q22.3q23.3 Trisomy 10q22.3q23.3 Orphanet:276422 10q22.3q23.3 microduplication syndrome trisomy 10q22.3q23.3 Orphanet:276422 MONDO:0017181 hypnic headache oio:hasExactSynonym hypnic headache hypnic headache Hypnic headache Orphanet:276429 Hypnic headache hypnic headache Orphanet:276429 -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym familial hyperinsulinemic hypoglycemia familial hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia Orphanet:276525 Familial hyperinsulinism familial hyperinsulinemic hypoglycemia Orphanet:276525 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017183 hyperinsulinism due to UCP2 deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to UCP2 deficiency hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 Hyperinsulinism due to UCP2 deficiency hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 @@ -64011,8 +62967,8 @@ MONDO:0017227 autoimmune pancreatitis type 1 oio:hasExactSynonym lymphoplasmacy MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym AIP type 2 Orphanet:280315 Autoimmune pancreatitis type 2 AIP type 2 Orphanet:280315 MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym duct-centric pancreatitis duct-centric pancreatitis Duct-centric pancreatitis Orphanet:280315 Autoimmune pancreatitis type 2 duct-centric pancreatitis Orphanet:280315 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym 12p13.33 microdeletion syndrome Orphanet:280325 Distal deletion 12p 12p13.33 microdeletion syndrome Orphanet:280325 -MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 +MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p Del(12)(p13.33) Orphanet:280325 MONDO:0017229 distal monosomy 12p oio:hasExactSynonym distal deletion 12p distal deletion 12p Distal deletion 12p Orphanet:280325 Distal deletion 12p distal deletion 12p Orphanet:280325 MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oio:hasExactSynonym IDMDC Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IDMDC Orphanet:280384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017238 hemoglobinopathy Toms River oio:hasExactSynonym transient neonatal cyanosis and anemia due to Toms River Hemoglobin transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 Hemoglobinopathy Toms River transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 @@ -64064,14 +63020,13 @@ MONDO:0017277 partial deletion of chromosome 12 oio:hasExactSynonym partial mon MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Orphanet:282196 Autoimmune polyendocrinopathy autoimmune polyendocrinopathy Orphanet:282196 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome Orphanet:282196 Autoimmune polyendocrinopathy autoimmune polyglandular syndrome Orphanet:282196 MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS Orphanet:282196 Autoimmune polyendocrinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION APS Orphanet:282196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome Orphanet:80 Antiphospholipid syndrome Antiphospholipid Syndrome Orphanet:80 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease early-onset Parkinson disease Early-onset Parkinson disease Orphanet:2828 Young-onset Parkinson disease early-onset Parkinson disease Orphanet:2828 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym YOPD Orphanet:2828 Young-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION YOPD Orphanet:2828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis Orphanet:283 Demodicidosis Demodicosis Orphanet:283 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis Echinococcus multilocularis infection Orphanet:284 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym 10p12p11 microdeletion syndrome Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 10p12p11 microdeletion syndrome Orphanet:284169 -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Del(10)(p11.21p12.31) del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 +MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Del(10)(p11.21p12.31) Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym deletion 10p11.21p12.31 deletion 10p11.21p12.31 Deletion 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion deletion 10p11.21p12.31 Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym monosomy 10p11.21p12.31 monosomy 10p11.21p12.31 Monosomy 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion monosomy 10p11.21p12.31 Orphanet:284169 @@ -64105,7 +63060,6 @@ MONDO:0017315 short stature-webbed neck-heart disease syndrome oio:hasExactSynon MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oio:hasExactSynonym thong-Douglas-Ferrante syndrome thong-Douglas-Ferrante syndrome Thong-Douglas-Ferrante syndrome Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome thong-Douglas-Ferrante syndrome Orphanet:2866 MONDO:0017318 phakomatosis pigmentovascularis oio:hasExactSynonym phakomatosis pigmentovascularis phakomatosis pigmentovascularis Phakomatosis pigmentovascularis Orphanet:2875 Phakomatosis pigmentovascularis phakomatosis pigmentovascularis Orphanet:2875 MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym HE Orphanet:288 Hereditary elliptocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION HE Orphanet:288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis hereditary ovalocytosis Orphanet:98868 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency oio:hasExactSynonym PEPCK deficiency Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency PEPCK deficiency Orphanet:2880 MONDO:0017324 autosomal recessive hypophosphatemic rickets oio:hasExactSynonym ARHR Orphanet:289176 Autosomal recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ARHR Orphanet:289176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oio:hasExactSynonym early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 @@ -64205,8 +63159,8 @@ MONDO:0017393 blepharophimosis - intellectual disability syndrome oio:hasExactSy MONDO:0017395 fixed pigmented erythema oio:hasExactSynonym fixed drug eruption fixed drug eruption Fixed drug eruption Orphanet:293812 Fixed drug eruption fixed drug eruption Orphanet:293812 MONDO:0017398 3MC syndrome oio:hasExactSynonym Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 3MC syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 MONDO:0017398 3MC syndrome oio:hasExactSynonym craniofacial-ulnar-renal syndrome craniofacial-ulnar-renal syndrome Craniofacial-ulnar-renal syndrome Orphanet:293843 3MC syndrome craniofacial-ulnar-renal syndrome Orphanet:293843 -MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) distal dup(x)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 +MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome distal dup(X)q(28) Orphanet:293939 MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal trisomy Xq28 distal trisomy Xq28 Distal trisomy Xq28 Orphanet:293939 Distal Xq28 microduplication syndrome distal trisomy Xq28 Orphanet:293939 MONDO:0017405 1p21.3 microdeletion syndrome oio:hasExactSynonym monosomy 1p21.3 monosomy 1p21.3 Monosomy 1p21.3 Orphanet:293948 1p21.3 microdeletion syndrome monosomy 1p21.3 Orphanet:293948 MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oio:hasExactSynonym hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 @@ -64225,7 +63179,6 @@ MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym postpoliomyelitis MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Ivemark II syndrome Orphanet:294415 Renal-hepatic-pancreatic dysplasia Ivemark II syndrome Orphanet:294415 MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Renohepaticopancreatic dysplasia Orphanet:294415 Renal-hepatic-pancreatic dysplasia Renohepaticopancreatic dysplasia Orphanet:294415 MONDO:0017418 chronic intestinal failure oio:hasExactSynonym CIF Orphanet:294422 Chronic intestinal failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIF Orphanet:294422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017435 popliteal pterygium syndrome oio:hasExactSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome facio-genito-popliteal syndrome Orphanet:1300 MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym Parvovirus antenatal infection Orphanet:295 Fetal parvovirus syndrome Parvovirus antenatal infection Orphanet:295 MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym mother-to-child transmission of parvovirus syndrome mother-to-child transmission of parvovirus syndrome Mother-to-child transmission of parvovirus syndrome Orphanet:295 Fetal parvovirus syndrome mother-to-child transmission of parvovirus syndrome Orphanet:295 @@ -64472,8 +63425,8 @@ MONDO:0017783 congenital pancreatic cyst oio:hasExactSynonym true congenital pa MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBV-associated gastric carcinoma Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma EBV-associated gastric carcinoma Orphanet:313920 MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBVaGC Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma EBVaGC Orphanet:313920 MONDO:0017785 PENS syndrome oio:hasExactSynonym papular epidermal nevi with skyline basal cell layers syndrome papular epidermal nevi with skyline basal cell layers syndrome Papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 PENS syndrome papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 -MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) dup(2)(q23.1) Dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 +MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome dup(2)(q23.1) Orphanet:313947 MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym trisomy 2q23.1 trisomy 2q23.1 Trisomy 2q23.1 Orphanet:313947 2q23.1 microduplication syndrome trisomy 2q23.1 Orphanet:313947 MONDO:0017787 erythroderma desquamativum oio:hasExactSynonym Leiner disease Orphanet:314 Erythroderma desquamativum Leiner disease Orphanet:314 MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome oio:hasExactSynonym Dinno syndrome Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Dinno syndrome Orphanet:314002 @@ -64497,8 +63450,8 @@ MONDO:0017808 duplication of the pituitary gland oio:hasExactSynonym hypophysea MONDO:0017809 parkinsonism due to ATP13A2 deficiency oio:hasExactSynonym CLN12 disease Orphanet:314632 CLN12 disease CLN12 disease Orphanet:314632 MONDO:0017810 variant ABeta2M amyloidosis oio:hasExactSynonym autosomal dominant beta2-microglobulinic amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Variant ABeta2M amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym 5q31.3 microdeletion syndrome Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 5q31.3 microdeletion syndrome Orphanet:314655 -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Del(5)(q31.3) Orphanet:314655 MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym monosomy 5q31.3 monosomy 5q31.3 Monosomy 5q31.3 Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion monosomy 5q31.3 Orphanet:314655 MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome Orphanet:314679 Cerebrofacioarticular syndrome Van Maldergem syndrome Orphanet:314679 MONDO:0017815 acquired porencephaly oio:hasExactSynonym acquired porencephaly acquired porencephaly Acquired porencephaly Orphanet:314697 Acquired porencephaly acquired porencephaly Orphanet:314697 @@ -64541,7 +63494,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN Orphanet:3156 Se MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital bronchopulmonary sequestration congenital bronchopulmonary sequestration Congenital bronchopulmonary sequestration Orphanet:3161 Congenital pulmonary sequestration congenital bronchopulmonary sequestration Orphanet:3161 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary lymphoma Orphanet:3162 Sézary syndrome Sézary lymphoma Orphanet:3162 MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Orphanet:3162 Sézary syndrome Sézary syndrome Orphanet:3162 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome Orphanet:91355 Sheehan syndrome Sheehan Syndrome Orphanet:91355 MONDO:0017845 spastic ataxia oio:hasExactSynonym SPAX Orphanet:316226 Spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SPAX Orphanet:316226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017846 autosomal dominant spastic ataxia oio:hasExactSynonym AD-SPAX Orphanet:316235 Autosomal dominant spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD-SPAX Orphanet:316235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017847 autosomal recessive spastic ataxia oio:hasExactSynonym AR-SPAX Orphanet:316240 Autosomal recessive spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION AR-SPAX Orphanet:316240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -64612,7 +63564,6 @@ MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym MT-AT MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym maternally-inherited SPG maternally-inherited SPG Maternally-inherited SPG Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia maternally-inherited SPG Orphanet:320360 MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oio:hasExactSynonym Curatolo-Cilio-Pessagno syndrome Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Curatolo-Cilio-Pessagno syndrome Orphanet:3207 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC Orphanet:322 Exstrophy-epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EEC Orphanet:322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex Orphanet:93929 Cloacal exstrophy OEIS complex Orphanet:93929 MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oio:hasExactSynonym Pfeiffer-Kapferer syndrome Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Pfeiffer-Kapferer syndrome Orphanet:3224 MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome oio:hasExactSynonym Tungland-Bellman syndrome Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome Tungland-Bellman syndrome Orphanet:3225 MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome Orphanet:3237 Multiple synostoses syndrome WL syndrome Orphanet:3237 @@ -64622,8 +63573,8 @@ MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-br MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis oio:hasExactSynonym T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym multiple paragangliomas associated with erythrocytosis multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with erythrocytosis Orphanet:324299 Multiple paragangliomas associated with polycythemia multiple paragangliomas associated with erythrocytosis Orphanet:324299 MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym paraganglioma-somatostatinoma-polycythemia syndrome paraganglioma-somatostatinoma-polycythemia syndrome Paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Multiple paragangliomas associated with polycythemia paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 -MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 +MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome Del(9)(p13) Orphanet:324313 MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym monosomy 9p13 monosomy 9p13 Monosomy 9p13 Orphanet:324313 9p13 microdeletion syndrome monosomy 9p13 Orphanet:324313 MONDO:0017931 hereditary inclusion body myopathy type 4 oio:hasExactSynonym HIBM4 Orphanet:324381 Hereditary inclusion body myopathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HIBM4 Orphanet:324381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oio:hasExactSynonym aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 @@ -64676,7 +63627,6 @@ MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Orpha MONDO:0017991 Takayasu arteritis oio:hasExactSynonym cervical aortic arch cervical aortic arch Cervical aortic arch Orphanet:99079 Cervical aortic arch cervical aortic arch Orphanet:99079 MONDO:0017993 cerebral sinovenous thrombosis oio:hasExactSynonym CSVT Orphanet:329217 Cerebral sinovenous thrombosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSVT Orphanet:329217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration oio:hasExactSynonym FAHN Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FAHN Orphanet:329308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018000 hereditary thrombocytosis with transverse limb defect oio:hasExactSynonym familial thrombocytosis with transverse limb defect familial thrombocytosis with transverse limb defect Familial thrombocytosis with transverse limb defect Orphanet:329319 Thrombocythemia with distal limb defects familial thrombocytosis with transverse limb defect Orphanet:329319 MONDO:0018001 inverse Klippel-Trenaunay syndrome oio:hasExactSynonym cutaneous hemangioma with muscle or bone atrophy cutaneous hemangioma with muscle or bone atrophy Cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 Inverse Klippel-Trénaunay syndrome cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 @@ -64805,7 +63755,6 @@ MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria cl MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym hereditary xanthinuria hereditary xanthinuria Hereditary xanthinuria Orphanet:3467 Hereditary xanthinuria hereditary xanthinuria Orphanet:3467 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthic urolithiasis xanthic urolithiasis Xanthic urolithiasis Orphanet:3467 Hereditary xanthinuria xanthic urolithiasis Orphanet:3467 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine stone disease xanthine stone disease Xanthine stone disease Orphanet:3467 Hereditary xanthinuria xanthine stone disease Orphanet:3467 -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency xanthine dehydrogenase deficiency Xanthine dehydrogenase deficiency Orphanet:93601 Xanthinuria type I xanthine dehydrogenase deficiency Orphanet:93601 MONDO:0018115 epidermal nevus syndrome oio:hasExactSynonym Epidermal hamartoma syndrome Orphanet:35125 Epidermal nevus syndrome Epidermal hamartoma syndrome Orphanet:35125 MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia galactosemia Orphanet:352 MONDO:0018121 mitochondrial DNA maintenance syndrome oio:hasExactSynonym mtDNA maintenance syndrome Orphanet:352456 Mitochondrial DNA maintenance syndrome mtDNA maintenance syndrome Orphanet:352456 @@ -64817,8 +63766,8 @@ MONDO:0018124 Oncogenic osteomalacia oio:hasExactSynonym TIO Orphanet:352540 MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation oio:hasExactSynonym focal epilepsy-intellectual disability-dysarthria-ataxia syndrome focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym progressive myoclonus epilepsy with dystonia progressive myoclonus epilepsy with dystonia Progressive myoclonus epilepsy with dystonia Orphanet:352596 Progressive myoclonic epilepsy with dystonia progressive myoclonus epilepsy with dystonia Orphanet:352596 MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym PMED Orphanet:352596 Progressive myoclonic epilepsy with dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PMED Orphanet:352596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Del(16)(q24.1) del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 +MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome Del(16)(q24.1) Orphanet:352629 MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.1 monosomy 16q24.1 Monosomy 16q24.1 Orphanet:352629 16q24.1 microdeletion syndrome monosomy 16q24.1 Orphanet:352629 MONDO:0018128 phalangeal microgeodic syndrome oio:hasExactSynonym phalangeal osteolysis phalangeal osteolysis Phalangeal osteolysis Orphanet:352636 Phalangeal microgeodic syndrome phalangeal osteolysis Orphanet:352636 MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity oio:hasExactSynonym autosomal recessive cerebellar ataxia due to GBA2 deficiency autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 @@ -64854,8 +63803,6 @@ MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset PLS adult-onset MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset primary lateral sclerosis adult-onset primary lateral sclerosis Adult-onset primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis adult-onset primary lateral sclerosis Orphanet:35689 MONDO:0018155 lateral sclerosis oio:hasExactSynonym primary lateral sclerosis primary lateral sclerosis Primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis primary lateral sclerosis Orphanet:35689 MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome Del(3)(q26q27) Orphanet:356947 MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Del(3)(q26q27) del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome Del(3)(q26q27) Orphanet:356947 MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym monosomy 3q26q27 monosomy 3q26q27 Monosomy 3q26q27 Orphanet:356947 3q26q27 microdeletion syndrome monosomy 3q26q27 Orphanet:356947 @@ -64913,13 +63860,13 @@ MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffu MONDO:0018199 new-onset refractory status epilepticus oio:hasExactSynonym NORSE Norse NORSE Orphanet:363558 New-onset refractory status epilepticus http://purl.obolibrary.org/obo/mondo#ABBREVIATION NORSE Orphanet:363558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018201 extragonadal germ cell tumor oio:hasExactSynonym extragonadal germ cell tumor extragonadal germ cell tumor Extragonadal germ cell tumor Orphanet:363579 Extragonadal germ cell tumor extragonadal germ cell tumor Orphanet:363579 MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome oio:hasExactSynonym LCPS Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCPS Orphanet:363618 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) dup(20)(q11.2) Dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 +MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome dup(20)(q11.2) Orphanet:363659 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym distal deletion 1q distal deletion 1q Distal deletion 1q Orphanet:36367 Distal deletion 1q distal deletion 1q Orphanet:36367 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym monosomy 1qter monosomy 1qter Monosomy 1qter Orphanet:36367 Distal deletion 1q monosomy 1qter Orphanet:36367 MONDO:0018205 distal monosomy 1q oio:hasExactSynonym telomeric deletion 1q telomeric deletion 1q Telomeric deletion 1q Orphanet:36367 Distal deletion 1q telomeric deletion 1q Orphanet:36367 -MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 +MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome Del(2)(p13.2) Orphanet:363680 MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oio:hasExactSynonym Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 MONDO:0018209 Alexander disease type I oio:hasExactSynonym AxD type I Orphanet:363717 Alexander disease type I AxD type I Orphanet:363717 MONDO:0018210 Alexander disease type II oio:hasExactSynonym AxD type II Orphanet:363722 Alexander disease type II AxD type II Orphanet:363722 @@ -64932,9 +63879,7 @@ MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSyn MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSynonym HSAN1 Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSAN1 Orphanet:36386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym genetic epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures-plus Genetic epilepsy with febrile seizures-plus Orphanet:36387 Generalized epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures-plus Orphanet:36387 MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym GEFS+ Orphanet:36387 Generalized epilepsy with febrile seizures-plus http://purl.obolibrary.org/obo/mondo#ABBREVIATION GEFS+ Orphanet:36387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PNS Orphanet:36388 Paraneoplastic neurologic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PNS Orphanet:36388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Del(17)(q21.31) del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome Del(17)(q21.31) Orphanet:363958 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome Del(17)(q21.31) Orphanet:363958 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym monosomy 17q21.31 monosomy 17q21.31 Monosomy 17q21.31 Orphanet:363958 17q21.31 microdeletion syndrome monosomy 17q21.31 Orphanet:363958 @@ -64968,8 +63913,8 @@ MONDO:0018245 2p21 microdeletion syndrome without cystinuria oio:hasExactSynonym MONDO:0018247 CADDS oio:hasExactSynonym Zellweger-like contiguous gene deletion syndrome Orphanet:369942 CADDS Zellweger-like contiguous gene deletion syndrome Orphanet:369942 MONDO:0018247 CADDS oio:hasExactSynonym contiguous ABCD1 DXS1357E deletion syndrome contiguous ABCD1 DXS1357E deletion syndrome Contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 CADDS contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 MONDO:0018247 CADDS oio:hasExactSynonym CADDS Orphanet:369942 CADDS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL CADDS Orphanet:369942 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Der(8)t(8;12) Orphanet:369950 MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation oio:hasExactSynonym AML with t(8;16)(p11;p13) translocation Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation AML with t(8;16)(p11;p13) translocation Orphanet:370026 MONDO:0018258 Angora hair nevus oio:hasExactSynonym Schauder syndrome Orphanet:370039 Angora hair nevus Schauder syndrome Orphanet:370039 MONDO:0018259 didymosis aplasticosebacea oio:hasExactSynonym aplasia cutis congenita-nevus sebaceus syndrome aplasia cutis congenita-nevus sebaceus syndrome Aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 Didymosis aplasticosebacea aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 @@ -65026,7 +63971,6 @@ MONDO:0018309 Hirschsprung disease oio:hasExactSynonym HSCR Orphanet:388 Hirs MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Orphanet:389 Langerhans cell histiocytosis Langerhans cell granulomatosis Orphanet:389 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Orphanet:389 Langerhans cell histiocytosis Langerhans cell histiocytosis Orphanet:389 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym histiocytosis X histiocytosis X Histiocytosis X Orphanet:389 Langerhans cell histiocytosis histiocytosis X Orphanet:389 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018312 histoplasmosis oio:hasExactSynonym darling disease darling disease Darling disease Orphanet:390 Histoplasmosis darling disease Orphanet:390 MONDO:0018319 familial episodic pain syndrome oio:hasExactSynonym FEPS Orphanet:391384 Familial episodic pain syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FEPS Orphanet:391384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018322 HSD10 disease, infantile type oio:hasExactSynonym 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 HSD10 disease, infantile type 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 @@ -65065,8 +64009,8 @@ MONDO:0018338 activated PI3K-delta syndrome oio:hasExactSynonym APDS Orphanet MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with HSAN chronic diarrhea with HSAN Chronic diarrhea with HSAN Orphanet:397606 PrP systemic amyloidosis chronic diarrhea with HSAN Orphanet:397606 MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with hereditary sensory and autonomic neuropathy chronic diarrhea with hereditary sensory and autonomic neuropathy Chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 PrP systemic amyloidosis chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym prion protein systemic amyloidosis prion protein systemic amyloidosis Prion protein systemic amyloidosis Orphanet:397606 PrP systemic amyloidosis prion protein systemic amyloidosis Orphanet:397606 -MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 +MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome Del(3)(q27.3) Orphanet:397695 MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym JBTS with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy JBTS with JATD Orphanet:397715 MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym Joubert syndrome with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with JATD Orphanet:397715 MONDO:0018346 ferro-cerebro-cutaneous syndrome oio:hasExactSynonym cerebro-cutaneous syndrome with iron overload cerebro-cutaneous syndrome with iron overload Cerebro-cutaneous syndrome with iron overload Orphanet:397922 Ferro-cerebro-cutaneous syndrome cerebro-cutaneous syndrome with iron overload Orphanet:397922 @@ -65184,8 +64128,8 @@ MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym generali MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym GEKA Orphanet:411777 Generalized eruptive keratoacanthoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GEKA Orphanet:411777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym HLP type 3 Orphanet:412 Dysbetalipoproteinemia HLP type 3 Orphanet:412 MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym hyperlipidemia type 3 hyperlipidemia type 3 Hyperlipidemia type 3 Orphanet:412 Dysbetalipoproteinemia hyperlipidemia type 3 Orphanet:412 -MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 +MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome Del(13)(q12.3) Orphanet:412035 MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym monosomy 13q12.3 monosomy 13q12.3 Monosomy 13q12.3 Orphanet:412035 13q12.3 microdeletion syndrome monosomy 13q12.3 Orphanet:412035 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin encephalopathy Orphanet:415286 Bilirubin encephalopathy bilirubin encephalopathy Orphanet:415286 MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym kernicterus kernicterus Kernicterus Orphanet:415286 Bilirubin encephalopathy kernicterus Orphanet:415286 @@ -65194,7 +64138,6 @@ MONDO:0018480 carcinoma of esophagus, salivary gland type oio:hasExactSynonym e MONDO:0018481 undifferentiated carcinoma of esophagus oio:hasExactSynonym undifferentiated esophageal carcinoma undifferentiated esophageal carcinoma Undifferentiated esophageal carcinoma Orphanet:418951 Undifferentiated carcinoma of esophagus undifferentiated esophageal carcinoma Orphanet:418951 MONDO:0018483 secondary pulmonary alveolar proteinosis oio:hasExactSynonym secondary PAP secondary PAP Secondary PAP Orphanet:420259 Secondary pulmonary alveolar proteinosis secondary PAP Orphanet:420259 MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym SCD syndrome Orphanet:420402 Semicircular canal dehiscence syndrome SCD syndrome Orphanet:420402 -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym LOPD Orphanet:411602 Hereditary late-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LOPD Orphanet:411602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD due to acid maltase deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset GSD due to acid maltase deficiency, late-onset Orphanet:420429 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD type 2, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset GSD type 2, late-onset Orphanet:420429 @@ -65251,13 +64194,12 @@ MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxicity seroton MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxidrome serotonin toxidrome Serotonin toxidrome Orphanet:43116 Serotonin syndrome serotonin toxidrome Orphanet:43116 MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus Patent urachus Orphanet:431341 Patent urachus patent urachus Orphanet:431341 MONDO:0018553 urachal diverticulum oio:hasExactSynonym Vesicourachal diverticulum Orphanet:431347 Urachal diverticulum Vesicourachal diverticulum Orphanet:431347 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym gonadotropic deficiency gonadotropic deficiency Gonadotropic deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism gonadotropic deficiency Orphanet:238666 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym nIHH Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism nIHH Orphanet:432 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym normosmic congenital hypogonadotropic hypogonadism normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism normosmic congenital hypogonadotropic hypogonadism Orphanet:432 MONDO:0018559 fetal lower urinary tract obstruction oio:hasExactSynonym LUTO Orphanet:435365 Fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LUTO Orphanet:435365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 +MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome Del(3)p(25.3) Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym intellectual disability-epilepsy-stereotypic hand movement syndrome intellectual disability-epilepsy-stereotypic hand movement syndrome Intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 3p25.3 microdeletion syndrome intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym monosomy 3p25.3 monosomy 3p25.3 Monosomy 3p25.3 Orphanet:435638 3p25.3 microdeletion syndrome monosomy 3p25.3 Orphanet:435638 MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oio:hasExactSynonym CMT2 due to TFG mutation Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation CMT2 due to TFG mutation Orphanet:435819 @@ -65345,7 +64287,6 @@ MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary im MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oio:hasExactSynonym triangle disease triangle disease TRIANGLE disease Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency triangle disease Orphanet:444463 MONDO:0018642 NIK deficiency oio:hasExactSynonym primary immunodeficiency with multifaceted aberrant lymphoid immunity primary immunodeficiency with multifaceted aberrant lymphoid immunity Primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 NIK deficiency primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B oio:hasExactSynonym AD-SPG9B Orphanet:447757 Autosomal dominant spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AD-SPG9B Orphanet:447757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Orphanet:171 Primary sclerosing cholangitis Primary sclerosing cholangitis Orphanet:171 MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis sclerosing cholangitis Sclerosing cholangitis Orphanet:447771 Sclerosing cholangitis sclerosing cholangitis Orphanet:447771 MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym odontogenic keratocystoma odontogenic keratocystoma Odontogenic keratocystoma Orphanet:447777 Keratocystic odontogenic tumor odontogenic keratocystoma Orphanet:447777 MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym KTOC Orphanet:447777 Keratocystic odontogenic tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION KTOC Orphanet:447777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -65389,8 +64330,8 @@ MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Holmes-Adie syndrome Orphanet:454718 Holmes-Adie syndrome Holmes-Adie syndrome Orphanet:454718 MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym tonic pupil-tendon areflexia syndrome tonic pupil-tendon areflexia syndrome Tonic pupil-tendon areflexia syndrome Orphanet:454718 Holmes-Adie syndrome tonic pupil-tendon areflexia syndrome Orphanet:454718 MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym H-type tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula H-type tracheoesophageal fistula Orphanet:454750 -MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 +MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome Del(1)(p35.2) Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym deletion 1p35.2 deletion 1p35.2 Deletion 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome deletion 1p35.2 Orphanet:456298 MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym monosomy 1p35.2 monosomy 1p35.2 Monosomy 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome monosomy 1p35.2 Orphanet:456298 MONDO:0018698 hereditary neuroendocrine tumor of small intestine oio:hasExactSynonym hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of small bowel Hereditary neuroendocrine tumor of small bowel Orphanet:456333 Hereditary neuroendocrine tumor of small intestine hereditary neuroendocrine tumor of small bowel Orphanet:456333 @@ -65407,13 +64348,12 @@ MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym PILA MONDO:0018715 congenital hemangioma oio:hasExactSynonym congenital hemangioma congenital hemangioma Congenital hemangioma Orphanet:458775 Congenital hemangioma congenital hemangioma Orphanet:458775 MONDO:0018717 mixed cystic lymphatic malformation oio:hasExactSynonym mixed cystic lymphangioma mixed cystic lymphangioma Mixed cystic lymphangioma Orphanet:458792 Mixed cystic lymphatic malformation mixed cystic lymphangioma Orphanet:458792 MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym 7q36.3 microduplication syndrome Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 7q36.3 microduplication syndrome Orphanet:459074 -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) dup(7)(q36.3) Dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome dup(7)(q36.3) Orphanet:459074 MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation oio:hasExactSynonym DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym cutaneovisceral angiomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym MLT Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MLT Orphanet:464321 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym catastrophic APS catastrophic APS Catastrophic APS Orphanet:464343 Catastrophic antiphospholipid syndrome catastrophic APS Orphanet:464343 MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018741 paracetamol poisoning oio:hasExactSynonym acetaminophen poisoning acetaminophen poisoning Acetaminophen poisoning Orphanet:464458 Paracetamol poisoning acetaminophen poisoning Orphanet:464458 @@ -65571,7 +64511,6 @@ MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma man MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle zone lymphoma Orphanet:52416 Mantle cell lymphoma mantle zone lymphoma Orphanet:52416 MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCM Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym MCL Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCL Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018879 lichen planopilaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018879 lichen planopilaris oio:hasExactSynonym follicular lichen planus follicular lichen planus Follicular lichen planus Orphanet:525 Lichen planopilaris follicular lichen planus Orphanet:525 MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen follicularis lichen follicularis Lichen follicularis Orphanet:525 Lichen planopilaris lichen follicularis Orphanet:525 MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen planus follicularis lichen planus follicularis Lichen planus follicularis Orphanet:525 Lichen planopilaris lichen planus follicularis Orphanet:525 @@ -65753,7 +64692,6 @@ MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Orphanet:648 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Noonan syndrome Orphanet:648 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym amaurosis congenita of Leber amaurosis congenita of Leber Amaurosis congenita of Leber Orphanet:65 Leber congenital amaurosis amaurosis congenita of Leber Orphanet:65 MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis Orphanet:65 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL Leber congenital amaurosis Orphanet:65 -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA Orphanet:673538 Littoral cell hemangioma of the spleen http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LCA Orphanet:673538 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018999 LCAT deficiency oio:hasExactSynonym lecithin-cholesterol acyltransferase deficiency lecithin-cholesterol acyltransferase deficiency Lecithin-cholesterol acyltransferase deficiency Orphanet:650 LCAT deficiency lecithin-cholesterol acyltransferase deficiency Orphanet:650 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic gangliocytoma of the cerebellum Orphanet:65285 Lhermitte-Duclos disease dysplastic gangliocytoma of the cerebellum Orphanet:65285 MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym LDD Orphanet:65285 Lhermitte-Duclos disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION LDD Orphanet:65285 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -65801,12 +64739,10 @@ MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma Orphanet:66662 Extracutaneous mastocytoma extracutaneous mastocytoma Orphanet:66662 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive malignant osteopetrosis autosomal recessive malignant osteopetrosis Autosomal recessive malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis autosomal recessive malignant osteopetrosis Orphanet:667 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym infantile malignant osteopetrosis infantile malignant osteopetrosis Infantile malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis infantile malignant osteopetrosis Orphanet:667 -MONDO:0019029 segmental odontomaxillary dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym congenital dyserythropoietic anemia with thombocytopenia congenital dyserythropoietic anemia with thombocytopenia Congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym XDAT Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION XDAT Orphanet:67044 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency oio:hasExactSynonym MRGH Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRGH Orphanet:67045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome Steele-Richardson-Olszewski disease Orphanet:240071 MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym PSP syndrome Orphanet:683 Progressive supranuclear palsy PSP syndrome Orphanet:683 MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disease peroxisomal disease Peroxisomal disease Orphanet:68373 Peroxisomal disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL peroxisomal disease Orphanet:68373 MONDO:0019054 congenital limb malformation oio:hasExactSynonym congenital limb malformation congenital limb malformation Congenital limb malformation Orphanet:68378 Congenital limb malformation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL congenital limb malformation Orphanet:68378 @@ -65870,12 +64806,10 @@ MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym continuous spikes and waves during slow-wave sleep continuous spikes and waves during slow-wave sleep Continuous spikes and waves during slow-wave sleep Orphanet:725 Continuous spikes and waves during sleep continuous spikes and waves during slow-wave sleep Orphanet:725 MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym epileptic encephalopathy with continuous spike-and-wave during slow sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 Continuous spikes and waves during sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS Orphanet:725 Continuous spikes and waves during sleep http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CSWS Orphanet:725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym LKS Orphanet:98818 Landau-Kleffner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION LKS Orphanet:98818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym Micropolyangiitis Orphanet:727 Microscopic polyangiitis Micropolyangiitis Orphanet:727 MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym microscopic polyarteritis microscopic polyarteritis Microscopic polyarteritis Orphanet:727 Microscopic polyangiitis microscopic polyarteritis Orphanet:727 MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym MPA Orphanet:727 Microscopic polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MPA Orphanet:727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019127 polymyositis oio:hasExactSynonym polymyositis polymyositis Polymyositis Orphanet:732 Polymyositis polymyositis Orphanet:732 -MONDO:0019127 polymyositis oio:hasExactSynonym PM Orphanet:764 Pyomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PM Orphanet:764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019128 mullerian aplasia oio:hasExactSynonym Müllerian duct failure Orphanet:73217 Müllerian aplasia Müllerian duct failure Orphanet:73217 MONDO:0019128 mullerian aplasia oio:hasExactSynonym aplasia of the Müllerian ducts aplasia of the Müllerian ducts Aplasia of the Müllerian ducts Orphanet:73217 Müllerian aplasia aplasia of the Müllerian ducts Orphanet:73217 MONDO:0019136 Zygomycosis oio:hasExactSynonym Mucormycosis Orphanet:73263 Zygomycosis Mucormycosis Orphanet:73263 @@ -65928,9 +64862,7 @@ MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym hypertensive h MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym mineralocorticoid resistant hyperkalemia mineralocorticoid resistant hyperkalemia Mineralocorticoid resistant hyperkalemia Orphanet:757 Pseudohypoaldosteronism type 2 mineralocorticoid resistant hyperkalemia Orphanet:757 MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHA2 Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHA2 Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHAII Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PHAII Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019165 central precocious puberty oio:hasExactSynonym gonadotropin-dependant precocious puberty gonadotropin-dependant precocious puberty Gonadotropin-dependant precocious puberty Orphanet:650063 Rare central precocious puberty gonadotropin-dependant precocious puberty Orphanet:650063 -MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym HSP Orphanet:685 Hereditary spastic paraplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HSP Orphanet:685 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym IgA vasculitis Orphanet:761 Immunoglobulin A vasculitis IgA vasculitis Orphanet:761 MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym anaphylactoid purpura anaphylactoid purpura Anaphylactoid purpura Orphanet:761 Immunoglobulin A vasculitis anaphylactoid purpura Orphanet:761 MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym purpura rheumatica purpura rheumatica Purpura rheumatica Orphanet:761 Immunoglobulin A vasculitis purpura rheumatica Orphanet:761 @@ -65945,7 +64877,6 @@ MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate de MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Orphanet:765 Pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency Orphanet:765 MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDH Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDH Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDHC Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PDHC Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency pyruvate decarboxylase deficiency Orphanet:79243 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym Küssmaul-Maier disease Orphanet:767 Polyarteritis nodosa Küssmaul-Maier disease Orphanet:767 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym periarteritis nodosa periarteritis nodosa Periarteritis nodosa Orphanet:767 Polyarteritis nodosa periarteritis nodosa Orphanet:767 MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym polyarteritis nodosa polyarteritis nodosa Polyarteritis nodosa Orphanet:767 Polyarteritis nodosa polyarteritis nodosa Orphanet:767 @@ -66001,8 +64932,6 @@ MONDO:0019201 thyrotoxic periodic paralysis oio:hasExactSynonym thyrotoxic hypo MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma Orphanet:79105 Myxofibrosarcoma fibromyxosarcoma Orphanet:79105 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma Orphanet:79105 Myxofibrosarcoma myxofibrosarcoma Orphanet:79105 MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxoid malignant fibrous histiocytoma myxoid malignant fibrous histiocytoma Myxoid malignant fibrous histiocytoma Orphanet:79105 Myxofibrosarcoma myxoid malignant fibrous histiocytoma Orphanet:79105 -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym Hamman-rich syndrome Hamman-rich syndrome Hamman-Rich syndrome Orphanet:79126 Acute interstitial pneumonia Hamman-rich syndrome Orphanet:79126 MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym acute interstitial pneumonitis acute interstitial pneumonitis Acute interstitial pneumonitis Orphanet:79126 Acute interstitial pneumonia acute interstitial pneumonitis Orphanet:79126 MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome oio:hasExactSynonym RB-ILD Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION RB-ILD Orphanet:79127 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -66028,7 +64957,6 @@ MONDO:0019258 mild phenylketonuria oio:hasExactSynonym mild PKU mild PKU Mild P MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant PKU variant PKU Variant PKU Orphanet:79253 Mild phenylketonuria variant PKU Orphanet:79253 MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant phenylketonuria variant phenylketonuria Variant phenylketonuria Orphanet:79253 Mild phenylketonuria variant phenylketonuria Orphanet:79253 MONDO:0019259 classic phenylketonuria oio:hasExactSynonym classic PKU classic PKU Classic PKU Orphanet:79254 Classic phenylketonuria classic PKU Orphanet:79254 -MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:659681 Erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPP Orphanet:659681 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:79278 Autosomal erythropoietic protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EPP Orphanet:79278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym NAGA deficiency type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 NAGA deficiency type 3 Orphanet:79281 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Schindler disease type 3 Orphanet:79281 @@ -66284,7 +65212,6 @@ MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExact MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym HHE syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome HHE syndrome Orphanet:86908 MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym hemiconvulsion-hemiplegia-epilepsy syndrome hemiconvulsion-hemiplegia-epilepsy syndrome Hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym IHHS Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IHHS Orphanet:86908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019487 epilepsy with myoclonic absences oio:hasExactSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonic status in non-progressive encephalopathies myoclonic status in non-progressive encephalopathies Myoclonic status in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies myoclonic status in non-progressive encephalopathies Orphanet:86913 MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonus epilepsy in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome oio:hasExactSynonym diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 @@ -66337,7 +65264,6 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym warm A MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner hemolytic anemia Orphanet:90035 Paroxysmal cold hemoglobinuria Donath-Landsteiner hemolytic anemia Orphanet:90035 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome Orphanet:90035 Paroxysmal cold hemoglobinuria Donath-Landsteiner syndrome Orphanet:90035 MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019534 mixed-type autoimmune hemolytic anemia oio:hasExactSynonym mixed AIHA mixed AIHA Mixed AIHA Orphanet:90036 Mixed-type autoimmune hemolytic anemia mixed AIHA Orphanet:90036 MONDO:0019535 drug-induced autoimmune hemolytic anemia oio:hasExactSynonym drug-induced AIHA drug-induced AIHA Drug-induced AIHA Orphanet:90037 Drug-induced autoimmune hemolytic anemia drug-induced AIHA Orphanet:90037 MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome oio:hasExactSynonym Shiga-like toxin-associated HUS Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome Shiga-like toxin-associated HUS Orphanet:90038 @@ -66427,7 +65353,6 @@ MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioneurotic ed MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired bradykinine-induced angioedema acquired bradykinine-induced angioedema Acquired bradykinine-induced angioedema Orphanet:91385 Acquired angioedema acquired bradykinine-induced angioedema Orphanet:91385 MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired non histamine-induced angioedema acquired non histamine-induced angioedema Acquired non histamine-induced angioedema Orphanet:91385 Acquired angioedema acquired non histamine-induced angioedema Orphanet:91385 MONDO:0019624 acquired angioedema oio:hasExactSynonym AAE Orphanet:91385 Acquired angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AAE Orphanet:91385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial aortic dissection familial aortic dissection Familial aortic dissection Orphanet:229 Familial aortic dissection familial aortic dissection Orphanet:229 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial TAAD familial TAAD Familial TAAD Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection familial TAAD Orphanet:91387 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial thoracic aortic aneurysm and aortic dissection familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 MONDO:0019629 sclerocornea oio:hasExactSynonym isolated congenital sclerocornea isolated congenital sclerocornea Isolated congenital sclerocornea Orphanet:91490 Isolated congenital sclerocornea isolated congenital sclerocornea Orphanet:91490 @@ -66497,10 +65422,8 @@ MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym autoimmune thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:0019753 localized Castleman disease oio:hasExactSynonym localized Castleman disease localized Castleman disease Localized Castleman disease Orphanet:93685 Unicentric Castleman disease localized Castleman disease Orphanet:93685 -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym HHV-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease HHV-8-associated multicentric Castleman disease Orphanet:570438 MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym malformation syndrome malformation syndrome Malformation syndrome Orphanet:93890 Rare developmental defect during embryogenesis malformation syndrome Orphanet:93890 MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym rare developmental defect during embryogenesis rare developmental defect during embryogenesis Rare developmental defect during embryogenesis Orphanet:93890 Rare developmental defect during embryogenesis rare developmental defect during embryogenesis Orphanet:93890 MONDO:0019761 laryngotracheoesophageal cleft type 1 oio:hasExactSynonym LTEC I Orphanet:93938 Laryngotracheoesophageal cleft type 1 LTEC I Orphanet:93938 @@ -66559,7 +65482,6 @@ MONDO:0019806 primary progressive aphasia oio:hasExactSynonym PPA Orphanet:95 MONDO:0019807 mesocardia oio:hasExactSynonym Midline heart Orphanet:95443 Mesocardia Midline heart Orphanet:95443 MONDO:0019807 mesocardia oio:hasExactSynonym mesocardia mesocardia Mesocardia Orphanet:95443 Mesocardia mesocardia Orphanet:95443 MONDO:0019808 aortic valve atresia oio:hasExactSynonym congenital aortic valve atresia congenital aortic valve atresia Congenital aortic valve atresia Orphanet:95448 Congenital aortic valve atresia congenital aortic valve atresia Orphanet:95448 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym TEN Orphanet:3398 Thymic epithelial neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION TEN Orphanet:3398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym SJS-TEN Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION SJS-TEN Orphanet:95455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019811 tricuspid valve agenesis oio:hasExactSynonym congenital unguarded tricuspid orifice congenital unguarded tricuspid orifice Congenital unguarded tricuspid orifice Orphanet:95457 Tricuspid valve agenesis congenital unguarded tricuspid orifice Orphanet:95457 MONDO:0019823 premature closure of the arterial duct oio:hasExactSynonym premature closure of the patent ductus arteriosus premature closure of the patent ductus arteriosus Premature closure of the patent ductus arteriosus Orphanet:95486 Premature closure of the arterial duct premature closure of the patent ductus arteriosus Orphanet:95486 @@ -66601,8 +65523,8 @@ MONDO:0019873 4p16.3 microduplication syndrome oio:hasExactSynonym trisomy 4pte MONDO:0019874 distal trisomy 7p oio:hasExactSynonym distal duplication 7p distal duplication 7p Distal duplication 7p Orphanet:96074 Distal duplication 7p distal duplication 7p Orphanet:96074 MONDO:0019874 distal trisomy 7p oio:hasExactSynonym telomeric duplication 7p telomeric duplication 7p Telomeric duplication 7p Orphanet:96074 Distal duplication 7p telomeric duplication 7p Orphanet:96074 MONDO:0019874 distal trisomy 7p oio:hasExactSynonym trisomy 7pter trisomy 7pter Trisomy 7pter Orphanet:96074 Distal duplication 7p trisomy 7pter Orphanet:96074 -MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Invdupdel(8p) invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 +MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome Invdupdel(8p) Orphanet:96092 MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym inverted 8p duplication/deletion syndrome inverted 8p duplication/deletion syndrome Inverted 8p duplication/deletion syndrome Orphanet:96092 8p inverted duplication/deletion syndrome inverted 8p duplication/deletion syndrome Orphanet:96092 MONDO:0019877 distal trisomy 2q oio:hasExactSynonym distal duplication 2q distal duplication 2q Distal duplication 2q Orphanet:96094 Distal duplication 2q distal duplication 2q Orphanet:96094 MONDO:0019877 distal trisomy 2q oio:hasExactSynonym telomeric duplication 2q telomeric duplication 2q Telomeric duplication 2q Orphanet:96094 Distal duplication 2q telomeric duplication 2q Orphanet:96094 @@ -66646,8 +65568,8 @@ MONDO:0019889 distal trisomy 22q oio:hasExactSynonym telomeric duplication 22q MONDO:0019889 distal trisomy 22q oio:hasExactSynonym trisomy 22qter trisomy 22qter Trisomy 22qter Orphanet:96109 Distal duplication 22q trisomy 22qter Orphanet:96109 MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-distal duplication 9q non-distal duplication 9q Non-distal duplication 9q Orphanet:96112 Non-distal duplication 9q non-distal duplication 9q Orphanet:96112 MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-telomeric trisomy 9q non-telomeric trisomy 9q Non-telomeric trisomy 9q Orphanet:96112 Non-distal duplication 9q non-telomeric trisomy 9q Orphanet:96112 -MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Del(22) del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 +MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 Del(22) Orphanet:96123 MONDO:0019891 monosomy 22 oio:hasExactSynonym deletion 22 deletion 22 Deletion 22 Orphanet:96123 Monosomy 22 deletion 22 Orphanet:96123 MONDO:0019892 distal monosomy 7p oio:hasExactSynonym distal deletion 7p distal deletion 7p Distal deletion 7p Orphanet:96126 Distal deletion 7p distal deletion 7p Orphanet:96126 MONDO:0019892 distal monosomy 7p oio:hasExactSynonym monosomy 7pter monosomy 7pter Monosomy 7pter Orphanet:96126 Distal deletion 7p monosomy 7pter Orphanet:96126 @@ -66660,8 +65582,8 @@ MONDO:0019895 distal monosomy 4q oio:hasExactSynonym telomeric deletion 4q telo MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9q subtelomeric deletion syndrome Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9qSTDS Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion 9qSTDS Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to del(9)(q34) kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) Orphanet:96147 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 MONDO:0019897 distal monosomy 12q oio:hasExactSynonym distal deletion 12q distal deletion 12q Distal deletion 12q Orphanet:96149 Distal deletion 12q distal deletion 12q Orphanet:96149 MONDO:0019897 distal monosomy 12q oio:hasExactSynonym monosomy 12qter monosomy 12qter Monosomy 12qter Orphanet:96149 Distal deletion 12q monosomy 12qter Orphanet:96149 @@ -66685,8 +65607,8 @@ MONDO:0019914 maternal uniparental disomy of chromosome 9 oio:hasExactSynonym U MONDO:0019915 maternal uniparental disomy of chromosome 14 oio:hasExactSynonym UPD(14)mat Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 UPD(14)mat Orphanet:96184 MONDO:0019916 maternal uniparental disomy of chromosome 16 oio:hasExactSynonym UPD(16)mat Orphanet:96185 Maternal uniparental disomy of chromosome 16 UPD(16)mat Orphanet:96185 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)mat Orphanet:96186 Maternal uniparental disomy of chromosome 20 UPD(20)mat Orphanet:96186 -MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) Maternal UPD(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 +MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 maternal UPD(20) Orphanet:96186 MONDO:0019918 maternal uniparental disomy of chromosome 21 oio:hasExactSynonym UPD(21)mat Orphanet:96187 Maternal uniparental disomy of chromosome 21 UPD(21)mat Orphanet:96187 MONDO:0019919 maternal uniparental disomy of chromosome 22 oio:hasExactSynonym UPD(22)mat Orphanet:96188 Maternal uniparental disomy of chromosome 22 UPD(22)mat Orphanet:96188 MONDO:0019920 paternal uniparental disomy of chromosome 5 oio:hasExactSynonym UPD(5)pat Orphanet:96190 Paternal uniparental disomy of chromosome 5 UPD(5)pat Orphanet:96190 @@ -66799,7 +65721,6 @@ MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystroph MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym FPLD Orphanet:98306 Familial partial lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FPLD Orphanet:98306 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020099 inherited sideroblastic anemia oio:hasExactSynonym constitutional sideroblastic anemia constitutional sideroblastic anemia Constitutional sideroblastic anemia Orphanet:98362 Constitutional sideroblastic anemia constitutional sideroblastic anemia Orphanet:98362 MONDO:0020102 hereditary stomatocytosis oio:hasExactSynonym hereditary stomatocytic disease hereditary stomatocytic disease Hereditary stomatocytic disease Orphanet:98365 Hereditary stomatocytosis hereditary stomatocytic disease Orphanet:98365 -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune hemolytic anemia autoimmune hemolytic anemia Autoimmune hemolytic anemia Orphanet:98375 Autoimmune hemolytic anemia autoimmune hemolytic anemia Orphanet:98375 MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AIHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AIHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -66813,7 +65734,6 @@ MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell dise MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease Orphanet:98503 Motor neuron disease motor neuron disease Orphanet:98503 MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired anterior horn cell disease acquired anterior horn cell disease Acquired anterior horn cell disease Orphanet:98506 Acquired motor neuron disease acquired anterior horn cell disease Orphanet:98506 MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired motor neuron disease acquired motor neuron disease Acquired motor neuron disease Orphanet:98506 Acquired motor neuron disease acquired motor neuron disease Orphanet:98506 -MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontoneocerebellar atrophy pontoneocerebellar atrophy Pontoneocerebellar atrophy Orphanet:98523 Non-syndromic pontocerebellar hypoplasia pontoneocerebellar atrophy Orphanet:98523 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020212 superficial corneal dystrophy oio:hasExactSynonym anterior corneal dystrophy anterior corneal dystrophy Anterior corneal dystrophy Orphanet:98625 Superficial corneal dystrophy anterior corneal dystrophy Orphanet:98625 @@ -66835,8 +65755,8 @@ MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym fa MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym familial focal epilepsy with variable foci familial focal epilepsy with variable foci Familial focal epilepsy with variable foci Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL familial focal epilepsy with variable foci Orphanet:98820 MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia chronic myelomonocytic leukemia Orphanet:98823 MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym CMML Orphanet:98823 Chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMML Orphanet:98823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities oio:hasExactSynonym AML with 11q23 abnormalities Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities AML with 11q23 abnormalities Orphanet:98831 MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym AML M2 Orphanet:98834 Acute myeloblastic leukemia with maturation AML M2 Orphanet:98834 MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloblastic leukemia M2 acute myeloblastic leukemia M2 Acute myeloblastic leukemia M2 Orphanet:98834 Acute myeloblastic leukemia with maturation acute myeloblastic leukemia M2 Orphanet:98834 @@ -66932,8 +65852,6 @@ MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym AS MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym ASD, coronary sinus type Orphanet:99104 Atrial septal defect, coronary sinus type ASD, coronary sinus type Orphanet:99104 MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym unroofed coronary sinus unroofed coronary sinus Unroofed coronary sinus Orphanet:99104 Atrial septal defect, coronary sinus type unroofed coronary sinus Orphanet:99104 MONDO:0020436 atrial septal defect, sinus venosus type oio:hasExactSynonym ASD, sinus venosus type Orphanet:99105 Atrial septal defect, sinus venosus type ASD, sinus venosus type Orphanet:99105 -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym partial atrioventricular septal defect partial atrioventricular septal defect Partial atrioventricular septal defect Orphanet:1330 Partial atrioventricular septal defect partial atrioventricular septal defect Orphanet:1330 -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym PAVC Orphanet:1330 Partial atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PAVC Orphanet:1330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym ASD, ostium primum type Orphanet:99106 Atrial septal defect, ostium primum type ASD, ostium primum type Orphanet:99106 MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right SVC connecting to left-sided atrium right SVC connecting to left-sided atrium Right SVC connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium right SVC connecting to left-sided atrium Orphanet:99110 MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right superior caval vein connecting to left-sided atrium right superior caval vein connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium right superior caval vein connecting to left-sided atrium Orphanet:99110 @@ -67038,8 +65956,6 @@ MONDO:0020554 Heiner syndrome oio:hasExactSynonym cow's milk hypersensitivity c MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K oio:hasExactSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT Orphanet:99966 Atypical teratoid rhabdoid tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATRT Orphanet:99966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020561 myxoid/round cell liposarcoma oio:hasExactSynonym MRCLS Orphanet:99967 Myxoid/round cell liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MRCLS Orphanet:99967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma Orphanet:99969 Pleomorphic liposarcoma pleomorphic liposarcoma Orphanet:99969 MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma Orphanet:99970 Dedifferentiated liposarcoma dedifferentiated liposarcoma Orphanet:99970 @@ -67104,7 +66020,6 @@ MONDO:0021134 acquired factor X deficiency oio:hasExactSynonym aFX Orphanet:5 MONDO:0021141 acquired oio:hasExactSynonym not genetically inherited Orphanet:409941 not genetically inherited not genetically inherited Orphanet:409941 MONDO:0021154 dermis disorder oio:hasExactSynonym other dermis disorder other dermis disorder Other dermis disorder Orphanet:79381 Other dermis disorder other dermis disorder Orphanet:79381 MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid hemangioma Orphanet:675396 Epithelioid hemangioma epithelioid hemangioma Orphanet:675396 -MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym Atypical LQT8 Orphanet:595109 Atypical Timothy syndrome Atypical LQT8 Orphanet:595109 MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym atypical Timothy syndrome atypical Timothy syndrome Atypical Timothy syndrome Orphanet:595109 Atypical Timothy syndrome atypical Timothy syndrome Orphanet:595109 MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -67112,7 +66027,6 @@ MONDO:0021176 autoimmune hepatitis type 2 oio:hasExactSynonym autoimmune hepati MONDO:0021181 inherited blood coagulation disorder oio:hasExactSynonym rare genetic coagulation disorder rare genetic coagulation disorder Rare genetic coagulation disorder Orphanet:183654 Rare genetic coagulation disorder rare genetic coagulation disorder Orphanet:183654 MONDO:0021427 squamous cell carcinoma of lip oio:hasExactSynonym squamous cell carcinoma of the Lip squamous cell carcinoma of the Lip Squamous cell carcinoma of the lip Orphanet:502366 Squamous cell carcinoma of the lip squamous cell carcinoma of the Lip Orphanet:502366 MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic tumor Orphanet:94 Astrocytoma astrocytic tumor Orphanet:94 -MONDO:0021651 synpolydactyly oio:hasExactSynonym polysyndactyly polysyndactyly Polysyndactyly Orphanet:93338 Polysyndactyly polysyndactyly Orphanet:93338 MONDO:0021651 synpolydactyly oio:hasExactSynonym syndactyly type 2 syndactyly type 2 Syndactyly type 2 Orphanet:93403 Syndactyly type 2 syndactyly type 2 Orphanet:93403 MONDO:0021651 synpolydactyly oio:hasExactSynonym synpolydactyly synpolydactyly Synpolydactyly Orphanet:93403 Syndactyly type 2 synpolydactyly Orphanet:93403 MONDO:0021660 deep seated dermatophytosis oio:hasExactSynonym deep dermatophytosis deep dermatophytosis Deep dermatophytosis Orphanet:397587 Deep dermatophytosis deep dermatophytosis Orphanet:397587 @@ -67161,7 +66075,6 @@ MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic anter MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic motor neuron disease genetic motor neuron disease Genetic motor neuron disease Orphanet:98505 Genetic motor neuron disease genetic motor neuron disease Orphanet:98505 MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym adenocarcinoma of the vulva adenocarcinoma of the vulva Adenocarcinoma of the vulva Orphanet:494454 Vulvar adenocarcinoma adenocarcinoma of the vulva Orphanet:494454 MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym vulvar adenocarcinoma vulvar adenocarcinoma Vulvar adenocarcinoma Orphanet:494454 Vulvar adenocarcinoma vulvar adenocarcinoma Orphanet:494454 -MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Orphanet:35069 Infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy Orphanet:35069 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym phospholipase A2-associated neurodegeneration phospholipase A2-associated neurodegeneration Phospholipase A2-associated neurodegeneration Orphanet:35069 Infantile neuroaxonal dystrophy phospholipase A2-associated neurodegeneration Orphanet:35069 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym INAD inaD INAD Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION INAD Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -67277,10 +66190,10 @@ MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart def MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oio:hasExactSynonym hyaluronidase 2 deficiency hyaluronidase 2 deficiency Hyaluronidase 2 deficiency Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome hyaluronidase 2 deficiency Orphanet:508476 MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oio:hasExactSynonym serpentine-like syndrome serpentine-like syndrome Serpentine-like syndrome Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome serpentine-like syndrome Orphanet:514352 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with BCR-ABL1 Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with BCR-ABL1 Orphanet:585867 -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PCM1-JAK2 myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym Chung-Jansen syndrome Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Chung-Jansen syndrome Orphanet:589905 MONDO:0035149 secondary erythromelalgia oio:hasExactSynonym Secondary erythermalgia Orphanet:529864 Secondary erythromelalgia Secondary erythermalgia Orphanet:529864 @@ -67401,7 +66314,6 @@ MONDO:0035679 Timothy syndrome type 2 oio:hasExactSynonym TS2 Orphanet:595105 MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency oio:hasExactSynonym CID due to RELA haploinsufficiency Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency CID due to RELA haploinsufficiency Orphanet:596759 MONDO:0035696 incomplete septal cirrhosis oio:hasExactSynonym Incomplete septal fibrosis Orphanet:596941 Incomplete septal cirrhosis Incomplete septal fibrosis Orphanet:596941 MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035736 acquired hemophilia B oio:hasExactSynonym AHB Orphanet:599485 Acquired hemophilia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION AHB Orphanet:599485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035740 acquired factor XI deficiency oio:hasExactSynonym aFXI Orphanet:599507 Acquired factor XI deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION aFXI Orphanet:599507 MONDO:0035742 factor V short isoforms-related bleeding disorder oio:hasExactSynonym FV short isoforms-related bleeding disorder Orphanet:599519 Factor V short isoforms-related bleeding disorder FV short isoforms-related bleeding disorder Orphanet:599519 @@ -67428,8 +66340,8 @@ MONDO:0035879 granuloma faciale oio:hasExactSynonym Facial granuloma of Lever MONDO:0035879 granuloma faciale oio:hasExactSynonym Granuloma of Lever Orphanet:615943 Granuloma faciale Granuloma of Lever Orphanet:615943 MONDO:0035882 chronic intervillositis of unknown etiology oio:hasExactSynonym CIUE Orphanet:615970 Chronic intervillositis of unknown etiology http://purl.obolibrary.org/obo/mondo#ABBREVIATION CIUE Orphanet:615970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency oio:hasExactSynonym 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym BCR-ABL1-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) BCR-ABL1-like B-ALL Orphanet:585909 MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym Philadelphia chromosome-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Philadelphia chromosome-like B-ALL Orphanet:585909 MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oio:hasExactSynonym B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 @@ -67473,8 +66385,8 @@ MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryofe MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryopathy Orphanet:485358 Propylthiouracil embryofetopathy PTU embryopathy Orphanet:485358 MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym propylthiouracil embryopathy propylthiouracil embryopathy Propylthiouracil embryopathy Orphanet:485358 Propylthiouracil embryofetopathy propylthiouracil embryopathy Orphanet:485358 MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym tetrasomy 16p12.1p12.3 tetrasomy 16p12.1p12.3 Tetrasomy 16p12.1p12.3 Orphanet:485405 16p12.1p12.3 triplication syndrome tetrasomy 16p12.1p12.3 Orphanet:485405 -MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 +MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome trip(16)(p12.1p12.3) Orphanet:485405 MONDO:0044624 pediatric collagenous gastritis oio:hasExactSynonym childhood-onset collagenous gastritis childhood-onset collagenous gastritis Childhood-onset collagenous gastritis Orphanet:487809 Pediatric collagenous gastritis childhood-onset collagenous gastritis Orphanet:487809 MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation oio:hasExactSynonym CMT2 due to DGAT2 mutation Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation CMT2 due to DGAT2 mutation Orphanet:487814 MONDO:0044627 acute macular neuroretinopathy oio:hasExactSynonym AMNR Orphanet:488239 Acute macular neuroretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION AMNR Orphanet:488239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -67521,8 +66433,8 @@ MONDO:0044688 isolated optic neuritis oio:hasExactSynonym ION ion ION Orphanet: MONDO:0044689 recurrent idiopathic neuroretinitis oio:hasExactSynonym RINR Orphanet:499103 Recurrent idiopathic neuroretinitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION RINR Orphanet:499103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044705 paranasal sinus squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasal cavity and sinuses squamous cell carcinoma of the nasal cavity and sinuses Squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oio:hasExactSynonym mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 -MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) proximal del(4)(q25) Proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 +MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome proximal del(4)(q25) Orphanet:502437 MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal monosomy 4q25 proximal monosomy 4q25 Proximal monosomy 4q25 Orphanet:502437 4q25 proximal deletion syndrome proximal monosomy 4q25 Orphanet:502437 MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 Alkaline ceramidase 3 deficiency ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym leukodystrophy due to alkaline ceramidase 3 deficiency leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 Alkaline ceramidase 3 deficiency leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 @@ -67602,7 +66514,6 @@ MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated c MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated mitochondrial respiratory chain complex I deficiency isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 Isolated complex I deficiency isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome SATB2-associated syndrome Orphanet:576278 MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:224 Neonatal diabetes mellitus monogenic diabetes of infancy Orphanet:224 MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:99885 Isolated permanent neonatal diabetes mellitus monogenic diabetes of infancy Orphanet:99885 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym GTPCH deficiency Orphanet:2102 GTP cyclohydrolase I deficiency GTPCH deficiency Orphanet:2102 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym hyperphenylalaninemia due to GTP cyclohydrolase deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 GTP cyclohydrolase I deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 @@ -67671,8 +66582,8 @@ MONDO:0100508 salivary gland type cancer of the breast oio:hasExactSynonym sali MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym deoxyguanosine kinase deficiency deoxyguanosine kinase deficiency Deoxyguanosine kinase deficiency Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form deoxyguanosine kinase deficiency Orphanet:254871 MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oio:hasExactSynonym Kozlowski-Tsuruta syndrome Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Kozlowski-Tsuruta syndrome Orphanet:2204 -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Del(16)(p13.2) del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 +MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Del(16)(p13.2) Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16P13.2 deletion syndrome chromosome 16P13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion chromosome 16P13.2 deletion syndrome Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16p13.2 deletion syndrome chromosome 16p13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion chromosome 16p13.2 deletion syndrome Orphanet:500055 MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym monosomy 16p13.2 monosomy 16p13.2 Monosomy 16p13.2 Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion monosomy 16p13.2 Orphanet:500055 @@ -67685,8 +66596,8 @@ MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym HAE w MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioedema with normal C1 inhibitor hereditary angioedema with normal C1 inhibitor Hereditary angioedema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioedema with normal C1 inhibitor Orphanet:528647 MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1 inhibitor hereditary angioneurotic edema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1Inh hereditary angioneurotic edema with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Orphanet:528647 Hereditary angioedema with normal C1Inh hereditary angioneurotic edema with normal C1Inh Orphanet:528647 -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym 4H leukodystrophy Orphanet:289494 4H leukodystrophy 4H leukodystrophy Orphanet:289494 MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym POLR-related leukodystrophy Orphanet:289494 4H leukodystrophy POLR-related leukodystrophy Orphanet:289494 @@ -67710,8 +66621,6 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant oio:hasExactSynonym FDFM Orphanet:324588 Familial dyskinesia and facial myokymia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FDFM Orphanet:324588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Orphanet:2032 Idiopathic pulmonary fibrosis Idiopathic Pulmonary Fibrosis Orphanet:2032 MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia familial intestinal polyatresia syndrome Orphanet:2300 -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym FIPA Orphanet:314777 Familial isolated pituitary adenoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION FIPA Orphanet:314777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum CID-MIA/early-onset IBD Orphanet:436252 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Orphanet:436252 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym Schwartz-Jampel syndrome type 2 Orphanet:3206 Stüve-Wiedemann syndrome Schwartz-Jampel syndrome type 2 Orphanet:3206 diff --git a/src/ontology/reports/sync-synonym/sync-synonyms.updated.robot.tsv b/src/ontology/reports/sync-synonym/sync-synonyms.updated.robot.tsv index 0d843706..bc21024a 100644 --- a/src/ontology/reports/sync-synonym/sync-synonyms.updated.robot.tsv +++ b/src/ontology/reports/sync-synonym/sync-synonyms.updated.robot.tsv @@ -7,7 +7,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICF syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 ICF syndrome DOID:0090007 MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Rickettsia africae spotted fever DOID:0050035 African tick-bite fever DOID:0050035 Rickettsia africae spotted fever DOID:0050035 MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever DOID:0050035 South African tick-bite fever DOID:0050035 -MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever DOID:14095 boutonneuse fever DOID:0050035 South African tick-bite fever DOID:14095 MONDO:0000233 Japanese spotted fever oio:hasExactSynonym oio:hasRelatedSynonym oriental spotted fever DOID:0050050 Japanese spotted fever DOID:0050050 oriental spotted fever DOID:0050050 MONDO:0000234 Rickettsia parkeri spotted fever oio:hasExactSynonym oio:hasRelatedSynonym maculatum infection DOID:0050051 Rickettsia parkeri spotted fever DOID:0050051 maculatum infection DOID:0050051 MONDO:0000261 adenoiditis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenoiditis DOID:0050145 adenoiditis DOID:0050145 chronic adenoiditis DOID:0050145 @@ -17,9 +16,6 @@ MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus ty MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 Acanthamoeba encephalitis DOID:0050246 MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba granulomatous encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 Acanthamoeba granulomatous encephalitis DOID:0050246 MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous amebic encephalitis due to Acanthamoeba granulomatous amebic encephalitis due to Acanthamoeba Granulomatous Amebic Encephalitis due to Acanthamoeba DOID:0050246 granulomatous amebic encephalitis DOID:0050246 granulomatous amebic encephalitis due to Acanthamoeba DOID:0050246 -MONDO:0000315 commensal bacterial infectious disease oio:hasExactSynonym oio:hasRelatedSynonym opportunistic bacterial infectious disease DOID:0050340 opportunistic bacterial infectious disease opportunistic bacterial infectious disease DOID:0050340 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym murine typhus murine typhus Murine typhus DOID:11256 typhus DOID:0050481, Wikipedia:Murine_typhus murine typhus DOID:11256 -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym urban typhus urban typhus Urban typhus DOID:11256 typhus DOID:0050481 urban typhus DOID:11256 MONDO:0000332 sennetsu fever oio:hasExactSynonym oio:hasRelatedSynonym sennetsu ehrlichiosis sennetsu ehrlichiosis Sennetsu ehrlichiosis DOID:0050485 sennetsu fever Wikipedia:Neorickettsia_sennetsu, DOID:0050485 sennetsu ehrlichiosis DOID:0050485 MONDO:0000338 variola major infectious disease oio:hasExactSynonym oio:hasBroadSynonym variola major DOID:0050508 variola major variola major DOID:0050508 MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ Ullrich disease DOID:0050558 @@ -40,12 +36,8 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym intermediate cell small cell carcinoma DOID:0050685 small cell carcinoma DOID:0050685 intermediate cell small cell carcinoma DOID:0050685 MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma - intermediate cell small cell carcinoma - intermediate cell Small cell carcinoma - intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 small cell carcinoma - intermediate cell DOID:0050685 MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma, intermediate cell small cell carcinoma, intermediate cell Small cell carcinoma, intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 small cell carcinoma, intermediate cell DOID:0050685 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome DOID:0050665 fetal alcohol syndrome MESH:D063647 fetal alcohol syndrome DOID:0050665 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym partial fetal alcohol syndrome DOID:0050666 partial fetal alcohol syndrome MESH:D063647 partial fetal alcohol syndrome DOID:0050666 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects MESH:D063647 alcohol-related birth defects DOID:0050668 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym NK-T cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 NK-T cell lymphoma DOID:0050743 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym mature T-cell and natural killer cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 mature T-cell and natural killer cell lymphoma DOID:0050743 -MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia spinocerebellar ataxia DOID:1441 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 congenital cystic liver disease DOID:0050770 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital hepatic cyst DOID:0050770 polycystic liver disease DOID:0050770 congenital hepatic cyst DOID:0050770 MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym fibrocystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 fibrocystic liver disease DOID:0050770 @@ -64,16 +56,12 @@ MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic tricuspid valve disease DOID:0050826 tricuspid valve disease DOID:0050826 rheumatic tricuspid valve disease DOID:0050826 MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym familial dystonia DOID:0050835 generalized dystonia DOID:0050835 familial dystonia DOID:0050835 MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym fragments of torsion dystonia DOID:0050835 generalized dystonia DOID:0050835 fragments of torsion dystonia DOID:0050835 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans DOID:0060730 torsion dystonia 1 DOID:0050835 dystonia musculorum deformans DOID:0060730 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 DOID:0090056 dystonia 12 DOID:0050835 dystonia 12 DOID:0090056 MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis DOID:0050840 cervical dystonia DOID:0050840 spasmodic torticollis DOID:0050840 MONDO:0000482 focal hand dystonia oio:hasExactSynonym oio:hasRelatedSynonym organic writer's cramp DOID:0050841 focal hand dystonia DOID:0050841 organic writer's cramp DOID:0050841 MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym bronchioalveolar carcinoma DOID:0050870 pulmonary adenocarcinoma in situ DOID:0050870 bronchioalveolar carcinoma DOID:0050870 -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar carcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma NCIT:C136486 bronchioloalveolar carcinoma DOID:4926 MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym alpha synucleinopathies alpha synucleinopathies alpha Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 alpha synucleinopathies DOID:0050890 MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym synucleinopathies synucleinopathies Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 synucleinopathies DOID:0050890 MONDO:0000520 parietal lobe ependymal tumor oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe ependymoma DOID:0050903 parietal lobe ependymoma DOID:0050903 parietal lobe ependymoma DOID:0050903 -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer DOID:8850 salivary gland cancer NCIT:C9272 salivary gland cancer DOID:8850 MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym caecum adenoma DOID:0050910 cecum adenoma DOID:0050910 caecum adenoma DOID:0050910 MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasBroadSynonym cecum adenoma DOID:0050910 cecum adenoma DOID:0050910 cecum adenoma DOID:0050910 MONDO:0000540 small intestinal neuroendocrine tumor G1 oio:hasExactSynonym oio:hasRelatedSynonym small intestine carcinoid neuroendocrine tumor DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 @@ -107,21 +95,14 @@ MONDO:0000762 syndrome caused by partial chromosomal duplication oio:hasExactSyn MONDO:0000763 epithelial and subepithelial corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym epithelial and subepithelial dystrophy DOID:0060440 epithelial and subepithelial dystrophy DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf epithelial and subepithelial dystrophy DOID:0060440 MONDO:0000766 corneal endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy DOID:0060443 corneal endothelial dystrophy DOID:0060443 endothelial dystrophy DOID:0060443 MONDO:0000812 vertebral column disorder oio:hasExactSynonym oio:hasRelatedSynonym spinal disease DOID:0060564 spinal disease DOID:0060564 spinal disease DOID:0060564 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9143 B acute lymphoblastic leukemia DOID:0080638 -MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X DOID:14221 abdominal obesity-metabolic syndrome 1 NCIT:C84442 metabolic syndrome X DOID:14221 MONDO:0000820 cerebral cavernous malformation oio:hasExactSynonym oio:hasRelatedSynonym familial cavernous angioma DOID:0060669 cerebral cavernous malformation DOID:0060669 familial cavernous angioma DOID:0060669 MONDO:0000828 juvenile-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym juvenile-onset Parkinson's disease DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 MONDO:0000836 disease of bone structure oio:hasExactSynonym oio:hasRelatedSynonym bone structure disease DOID:0080010 bone structure disease DOID:0080010 bone structure disease DOID:0080010 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia NCIT:C7953 T acute lymphoblastic leukemia DOID:5603 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9140 B acute lymphoblastic leukemia DOID:0080638 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia DOID:8864 acute monocytic leukemia NCIT:C8263 acute monocytic leukemia DOID:8864 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukaemia DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 acute monocytic leukaemia DOID:8864 MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis DOID:0080178 mucositis DOID:0080178 mucositis DOID:0080178 MONDO:0000892 colon medullary carcinoma oio:hasExactSynonym oio:hasRelatedSynonym medullary colon carcinoma DOID:0080183 medullary colon carcinoma DOID:0080183 medullary colon carcinoma DOID:0080183 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 DOID:0110507 autosomal recessive deafness 5 DOID:0110507 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 OMIM:600792 autosomal recessive nonsyndromic deafness 5 DOID:0110507 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 DFNB5 DOID:0110507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasBroadSynonym cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 CADASIL Orphanet:136, DOID:13945 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 MONDO:0000945 venous insufficiency oio:hasExactSynonym oio:hasNarrowSynonym peripheral venous insufficiency DOID:10128 venous insufficiency DOID:10128 peripheral venous insufficiency DOID:10128 MONDO:0000952 cancer of long bone of lower limb oio:hasExactSynonym oio:hasRelatedSynonym long bones of lower limb cancer DOID:10149 long bones of lower limb cancer DOID:10149 long bones of lower limb cancer DOID:10149 MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis AND retinochoroiditis DOID:10176 neuroretinitis DOID:10176 Juxtapapillary focal retinitis and retinochoroiditis DOID:10176 @@ -130,8 +111,6 @@ MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym papilloret MONDO:0000964 skin lipoma oio:hasExactSynonym oio:hasNarrowSynonym lipoma of face DOID:10188 skin lipoma DOID:10188 lipoma of face DOID:10188 MONDO:0000990 acute subendocardial myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym subendocardial infarction acute myocardial infarction DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 MONDO:0000994 malignant prostate phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym prostate malignant phyllodes tumor DOID:10289 prostate malignant phyllodes tumor DOID:10289 prostate malignant phyllodes tumor DOID:10289 -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL DOID:1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CLL DOID:1040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML DOID:8552 chronic myeloid leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CML DOID:8552 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001017 epididymal adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma DOID:10368, NCIT:C39957 adenocarcinoma of the epididymis DOID:10368 MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye DOID:10376 amblyopia NCIT:C118764 lazy eye DOID:10376 MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague DOID:10398 pneumonic plague DOID:10398 primary pneumonic plague DOID:10398 @@ -148,7 +127,6 @@ MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph no MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 adult Fanconi syndrome DOID:1062 MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym congenital Fanconi syndrome congenital Fanconi syndrome Congenital Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 congenital Fanconi syndrome DOID:1062 MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile nephropathic cystinosis infantile nephropathic cystinosis Infantile nephropathic cystinosis DOID:1062 Fanconi syndrome DOID:1062 infantile nephropathic cystinosis DOID:1062 -MONDO:0001105 renal hypertension oio:hasExactSynonym oio:hasNarrowSynonym renovascular hypertension DOID:1591 renovascular hypertension Wikipedia:Renovascular_hypertension renovascular hypertension DOID:1591 MONDO:0001115 familial polycythemia oio:hasExactSynonym oio:hasNarrowSynonym primary polycythemia DOID:10780 primary polycythemia DOID:10780 primary polycythemia DOID:10780 MONDO:0001118 Queensland tick typhus oio:hasExactSynonym oio:hasRelatedSynonym Australian tick typhus DOID:10784 Queensland tick typhus DOID:10784 Australian tick typhus DOID:10784 MONDO:0001126 gastric ulcer oio:hasExactSynonym oio:hasNarrowSynonym acute gastric ulcer with hemorrhage and obstruction DOID:10808 gastric ulcer DOID:10808 acute gastric ulcer with hemorrhage and obstruction DOID:10808 @@ -179,8 +157,6 @@ MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleedi MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleeding oesophageal varices bleeding oesophageal varices Bleeding oesophageal varices DOID:112 esophageal varix DOID:112 bleeding oesophageal varices DOID:112 MONDO:0001222 congenital T-cell immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym T cell deficiency DOID:11200 T cell deficiency DOID:11200 T cell deficiency DOID:11200 MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym plethora of newborn DOID:11242 plethora of newborn DOID:11242 plethora of newborn DOID:11242 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus DOID:0050481 endemic typhus DOID:11256 Urban typhus DOID:0050481 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus DOID:0050481 endemic typhus DOID:11256 murine typhus DOID:0050481 MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Moscow typhus DOID:11256 typhus DOID:11256 Moscow typhus DOID:11256 MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic flea-borne typhus DOID:11256 typhus DOID:11256 endemic flea-borne typhus DOID:11256 MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus DOID:11256 endemic typhus fever DOID:11256 @@ -191,11 +167,8 @@ MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym louse-borne [epide MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym murine [endemic] typhus murine [endemic] typhus Murine [endemic] typhus DOID:11256 typhus ICD9CM:081.0, DOID:11256 murine [endemic] typhus DOID:11256 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation DOID:11294 arteriovenous malformation DOID:11294 arteriovenous malformation DOID:11294 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym cirsoid aneurysm cirsoid aneurysm Cirsoid aneurysm DOID:11294 arteriovenous malformation DOID:11294 cirsoid aneurysm DOID:11294 -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis posterior uveitis DOID:12574 posterior uveitis NORD:1601 Posterior Uveitis DOID:12574 -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis DOID:12574 posterior uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis DOID:12574 MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial tumor DOID:116 pericardium cancer NCIT:C4651, DOID:116 pericardial tumor DOID:116 MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm DOID:11615 penile cancer DOID:11615 penile neoplasm DOID:11615 -MONDO:0001328 thyroid hormone resistance syndrome oio:hasExactSynonym oio:hasRelatedSynonym TSH resistance DOID:0070126 congenital nongoitrous hypothyroidism 1 TSH resistance DOID:0070126 MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasRelatedSynonym familial hyperlipoproteinemia DOID:1168 familial hyperlipidemia DOID:1168 familial hyperlipoproteinemia DOID:1168 MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasBroadSynonym hyperlipemia DOID:1168 familial hyperlipidemia DOID:1168 hyperlipemia DOID:1168 MONDO:0001336 familial hyperlipidemia oio:hasRelatedSynonym oio:hasBroadSynonym hyperlipidaemia DOID:1168 familial hyperlipidemia DOID:1168 hyperlipidaemia DOID:1168 @@ -210,7 +183,6 @@ MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tum MONDO:0001405 dermatophytosis of groin and perianal area oio:hasExactSynonym oio:hasRelatedSynonym tinea cruris DOID:11917 tinea cruris DOID:11917 tinea cruris DOID:11917 MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm DOID:1192 nerve sheath neoplasm DOID:1192 MONDO:0001409 esophagitis oio:hasExactSynonym oio:hasNarrowSynonym acute esophagitis DOID:11963 esophagitis DOID:11963 acute esophagitis DOID:11963 -MONDO:0001414 osteopoikilosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata DOID:0111536 Buschke-Ollendorff syndrome GARD:0004158 osteopathia condensans disseminata DOID:0111536 MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of frontal lobe DOID:12016 frontal lobe neoplasm DOID:12016 malignant neoplasm of frontal lobe DOID:12016 MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving forearm transient arthropathy involving forearm Transient arthropathy involving forearm DOID:12084 transient arthropathy DOID:12084 transient arthropathy involving forearm DOID:12084 MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving hand transient arthropathy involving hand Transient arthropathy involving hand DOID:12084 transient arthropathy DOID:12084 transient arthropathy involving hand DOID:12084 @@ -225,9 +197,7 @@ MONDO:0001434 inflammatory spondylopathy oio:hasExactSynonym oio:hasNarrowSynony MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis lymphocytic meningitis Lymphocytic meningitis DOID:12155 lymphocytic choriomeningitis DOID:12155 lymphocytic meningitis DOID:12155 MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym coloboma of macula DOID:12270 coloboma DOID:12270 coloboma of macula DOID:12270 MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym congenital ocular coloboma DOID:12270 coloboma DOID:12270 congenital ocular coloboma DOID:12270 -MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale DOID:8515 Cor pulmonale NCIT:C34478 Cor pulmonale DOID:8515 MONDO:0001502 retroperitoneum carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma DOID:12342, NCIT:C7352 carcinoma of the retroperitoneum DOID:12342 -MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer DOID:5875 retroperitoneal cancer NCIT:C7352 retroperitoneal cancer DOID:5875 MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva DOID:1245 vulva cancer DOID:1245 neoplasm of vulva DOID:1245 MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym vulval neoplasm DOID:1245 vulva cancer DOID:1245 vulval neoplasm DOID:1245 MONDO:0001564 binocular vision disease oio:hasExactSynonym oio:hasNarrowSynonym simultaneous visual perception without fusion DOID:12667 binocular vision disease DOID:12667 simultaneous visual perception without fusion DOID:12667 @@ -235,7 +205,6 @@ MONDO:0001575 chronic gonococcal salpingitis oio:hasExactSynonym oio:hasBroadSyn MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I DOID:12802 Hurler syndrome DOID:12802 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I DOID:12802 mucopolysaccharidosis I DOID:12802 mucopolysaccharidosis I DOID:12802 MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea DOID:12859 choreatic disease DOID:12859 hereditary chorea DOID:12859 -MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer DOID:1243 labia minora cancer NCIT:C9364, DOID:1293 labia minora cancer DOID:1243 MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora cancer DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 labia minora cancer DOID:1293 MONDO:0001602 labia minora carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of labia minora DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 carcinoma of labia minora DOID:1293 MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasNarrowSynonym adult brain tumor DOID:1319 brain cancer DOID:1319 adult brain tumor DOID:1319 @@ -263,14 +232,12 @@ MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynony MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 congenital hypoplastic anaemia DOID:1342 MONDO:0001713 inherited aplastic anemia oio:hasRelatedSynonym oio:hasExactSynonym constitutional aplastic anaemia constitutional aplastic anaemia Constitutional aplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 constitutional aplastic anaemia DOID:1342 MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign vaginal carcinosarcoma DOID:135 benign vaginal carcinosarcoma DOID:135 benign vaginal carcinosarcoma DOID:135 -MONDO:0001793 excessive tearing oio:hasExactSynonym oio:hasRelatedSynonym lacrimal apparatus disease DOID:1400 lacrimal apparatus disease MESH:D007766 lacrimal apparatus disease DOID:1400 MONDO:0001809 adhesions of uterus oio:hasExactSynonym oio:hasRelatedSynonym intrauterine synechiae intrauterine synechiae Intrauterine synechiae DOID:13812 adhesions of uterus ICD9CM:621.5, DOID:13812 intrauterine synechiae DOID:13812 MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis DOID:13943 acute gonococcal prostatitis DOID:13943 gonococcal prostatitis DOID:13943 MONDO:0001848 Morgagni cataract oio:hasExactSynonym oio:hasBroadSynonym hypermature cataract DOID:13964 Morgagni cataract DOID:13964, ICD9CM:366.18 hypermature cataract DOID:13964 MONDO:0001858 Tietze syndrome oio:hasRelatedSynonym oio:hasExactSynonym Tietze syndrome DOID:14021 Tietze's syndrome DOID:14021 Tietze syndrome DOID:14021 MONDO:0001870 acute poststreptococcal glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis DOID:14064, NCIT:C35443 post-streptococcal glomerulonephritis DOID:14064 MONDO:0001871 acute diffuse glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym acute diffuse nephritis DOID:14066 acute diffuse nephritis DOID:14066 acute diffuse nephritis DOID:14066 -MONDO:0001892 spinal cord lymphoma oio:hasExactSynonym oio:hasRelatedSynonym spinal cord cancer DOID:5612 spinal cancer DOID:14150 spinal cord cancer DOID:5612 MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease DOID:1417 choroid disease DOID:1417 choroid disease DOID:1417 MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG deficiency disease DOID:14176 selective IgG deficiency disease DOID:14176 selective IgG deficiency disease DOID:14176 MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency DOID:14176 selective IgG deficiency disease NCIT:C27142, DOID:14176 selective IgG immunodeficiency DOID:14176 @@ -278,34 +245,24 @@ MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym bli MONDO:0001952 parietal lobe cancer oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe neoplasm DOID:14384 parietal lobe neoplasm DOID:14384 parietal lobe neoplasm DOID:14384 MONDO:0001992 rete testis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma DOID:14544, NCIT:C8955 adenocarcinoma of rete testis DOID:14544 MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection DOID:3930 otitis interna DOID:3930 inner ear infection DOID:3930 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym FGS DOID:1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002317 FGS DOID:1312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome DOID:14711 FG syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome DOID:14711 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria mut type DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 methylmalonic aciduria mut type DOID:0060740 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria cblB type DOID:0060743 methylmalonic acidemia cblB type DOID:14749 methylmalonic aciduria cblB type DOID:0060743 MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasNarrowSynonym congenital lymphangioma congenital lymphangioma Congenital lymphangioma DOID:1475 lymphangioma DOID:1475 congenital lymphangioma DOID:1475 MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym oio:hasRelatedSynonym Thomas' syndrome DOID:14784 olivopontocerebellar atrophy http://purl.obolibrary.org/obo/mondo#AMBIGUOUS DOID:14784 Thomas' syndrome DOID:14784 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym disease of mental health DOID:150 disease of mental health DOID:150 disease of mental health DOID:150 MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated candidiasis DOID:1508 candidiasis DOID:1508, ICD9CM:112.5 disseminated candidiasis DOID:1508 MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym systemic candidiasis DOID:1508 candidiasis DOID:1508 systemic candidiasis DOID:1508 -MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer DOID:219 colon cancer NCIT:C4910 colon cancer DOID:219 MONDO:0002037 pleural disorder oio:hasExactSynonym oio:hasNarrowSynonym non-neoplastic pleural disease DOID:1532 pleural disease DOID:1532 non-neoplastic pleural disease DOID:1532 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer DOID:11934 head and neck cancer NCIT:C35850 head and neck cancer DOID:11934 MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the neck DOID:1542 head and neck carcinoma DOID:1542, NCIT:C6077 carcinoma of the neck DOID:1542 MONDO:0002038 head and neck carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of neck DOID:1542 head and neck carcinoma MONDO:patterns/carcinoma, DOID:1542 carcinoma of neck DOID:1542 -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol dependence DOID:0050741 alcohol dependence MESH:D000437 alcohol dependence DOID:0050741 -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcoholism DOID:0050741 alcohol dependence MESH:D000437 alcoholism DOID:0050741 MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol use disorder DOID:1574 alcohol use disorder DOID:1574 alcohol use disorder DOID:1574 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasNarrowSynonym auto-immune thrombocytopenia auto-immune thrombocytopenia Auto-immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 auto-immune thrombocytopenia DOID:1587 MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia due to platelet alloimmunization DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia DOID:1595 melancholic depression MESH:D003866 melancholia DOID:1595 MONDO:0002050 depressive disorder oio:hasRelatedSynonym oio:hasExactSynonym depression DOID:1596 depressive disorder NCIT:C2982 depression DOID:1596 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute adenitis DOID:1602 lymphadenitis DOID:1602 acute adenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute lymphadenitis DOID:1602 lymphadenitis ICD9CM:683, DOID:1602 acute lymphadenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenitis DOID:1602 lymphadenitis DOID:1602 chronic adenitis DOID:1602 MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic lymphadenitis chronic lymphadenitis chronic Lymphadenitis DOID:1602 lymphadenitis DOID:1602, NCIT:C26966 chronic lymphadenitis DOID:1602 MONDO:0002066 breast adenomyoepithelioma oio:hasRelatedSynonym oio:hasExactSynonym adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma DOID:1642, NCIT:C6899 adenomyoepithelioma of the breast DOID:1642 -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma DOID:7428 pineal region germinoma GARD:0012017 pineal region germinoma DOID:7428 MONDO:0002087 peritoneum cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of peritoneum DOID:1725 peritoneum cancer DOID:1725, MONDO:patterns/cancer cancer of peritoneum DOID:1725 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm DOID:175 vascular cancer NCIT:C7387, DOID:175 blood vessel neoplasm DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood vessel tumor DOID:175 vascular cancer DOID:175 blood vessel tumor DOID:175 @@ -319,7 +276,6 @@ MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors DOID:175 vascular cancer DOID:175, NCIT:C7388 vascular tumors DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym Haemangiomatous tumour DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 Haemangiomatous tumour DOID:175 MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumour disorder blood vessel tumour disorder Blood vessel tumour disorder DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 blood vessel tumour disorder DOID:175 -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002099 Histoplasma capsulatum infectious disease oio:hasExactSynonym oio:hasRelatedSynonym American histoplasmosis DOID:1759 American histoplasmosis American histoplasmosis DOID:1759 MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm DOID:176 cardiovascular cancer DOID:176 cardiovascular neoplasm DOID:176 MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland DOID:1781 thyroid cancer DOID:1781 neoplasm of thyroid gland DOID:1781 @@ -334,15 +290,12 @@ MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumour MONDO:0002131 jaw cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of jaw DOID:1862 jaw cancer DOID:1862 neoplasm of jaw DOID:1862 MONDO:0002131 jaw cancer oio:hasRelatedSynonym oio:hasBroadSynonym jaw neoplasm DOID:1862 jaw cancer DOID:1862 jaw neoplasm DOID:1862 MONDO:0002134 physiological sexual disorder oio:hasExactSynonym oio:hasBroadSynonym sexual dysfunction DOID:1876 sexual dysfunction DOID:1876 sexual dysfunction DOID:1876 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:VYST yolk sac tumor DOID:1911 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive tumor DOID:193 reproductive organ cancer NCIT:C3674, DOID:193 reproductive tumor DOID:193 MONDO:0002149 reproductive system cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of reproductive system DOID:193 reproductive organ cancer MONDO:patterns/cancer, DOID:193 cancer of reproductive system DOID:193 MONDO:0002154 trichomoniasis oio:hasRelatedSynonym oio:hasExactSynonym Trichomonas infection Trichomonas infection trichomonas infection DOID:1947 trichomoniasis DOID:1947, MONDO:patterns/infectious_disease_by_agent Trichomonas infection DOID:1947 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis DOID:1949 cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis DOID:1949 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute on chronic cholecystitis DOID:1949 cholecystitis DOID:1949 acute on chronic cholecystitis DOID:1949 MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym chronic cholecystitis DOID:1949 cholecystitis DOID:1949, ICD9CM:575.11 chronic cholecystitis DOID:1949 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis DOID:2828 acalculous cholecystitis GARD:0000030 acalculous cholecystitis DOID:2828 MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube DOID:1964 fallopian tube cancer NCIT:C3032, DOID:1964 tumor of the fallopian tube DOID:1964 MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental tumors DOID:2021 placenta cancer DOID:2021, NCIT:C4858 placental tumors DOID:2021 MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym orbital exostosis DOID:203 exostosis DOID:203 orbital exostosis DOID:203 @@ -350,7 +303,6 @@ MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym swimmer's exost MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym Bartholin gland neoplasm DOID:2068 Bartholin's gland benign neoplasm DOID:2068 Bartholin gland neoplasm DOID:2068 MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of Bartholin's gland DOID:2068 Bartholin's gland benign neoplasm NCIT:C6434, DOID:2068 tumor of Bartholin's gland DOID:2068 MONDO:0002197 minor vestibular glands adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma DOID:2075, NCIT:C40301 adenoma of minor vestibular glands DOID:2075 -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy DOID:12084 transient arthropathy NCIT:C35761 transient arthropathy DOID:12084 MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deficiency immunoglobulin heavy chain deficiency Immunoglobulin heavy chain deficiency DOID:2115 B cell deficiency DOID:2115 immunoglobulin heavy chain deficiency DOID:2115 MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deletion DOID:2115 B cell deficiency DOID:2115 immunoglobulin heavy chain deletion DOID:2115 MONDO:0002214 brain germinoma oio:hasExactSynonym oio:hasBroadSynonym intracranial germinoma DOID:2127 brain germinoma DOID:2127 intracranial germinoma DOID:2127 @@ -370,7 +322,6 @@ MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym acute/subac. ne MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym animal hepatitis DOID:2237 hepatitis DOID:2237 animal hepatitis DOID:2237 MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis DOID:2237 hepatitis DOID:2237 chronic hepatitis DOID:2237 MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic persistent hepatitis DOID:2237 hepatitis DOID:2237 chronic persistent hepatitis DOID:2237 -MONDO:0002258 pharyngitis oio:hasRelatedSynonym oio:hasNarrowSynonym acute sore throat DOID:11337 Lemierre's syndrome DOID:2275 acute sore throat DOID:11337 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym Sore throat - chronic DOID:2275 pharyngitis DOID:2275 Sore throat - chronic DOID:2275 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis DOID:2275 pharyngitis ICD9CM:462, DOID:2275 acute pharyngitis DOID:2275 MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute sore throat DOID:2275 pharyngitis DOID:2275 acute sore throat DOID:2275 @@ -392,7 +343,6 @@ MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumor DOID:2410 skin granular cell tumor DOID:2410 skin granular cell tumor DOID:2410 MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumour DOID:2410 skin granular cell tumor http://purl.obolibrary.org/obo/OMO_0003005 skin granular cell tumour DOID:2410 MONDO:0002312 opportunistic mycosis oio:hasExactSynonym oio:hasNarrowSynonym opportunistic systemic mycoses DOID:2473 opportunistic mycosis DOID:2473 opportunistic systemic mycoses DOID:2473 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 DOID:2477 hereditary motor and sensory neuropathy DOID:0050541 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym HSMN - hereditary sensory and motor neuropathy HSMN - hereditary sensory and motor neuropathy HSMN - Hereditary sensory and motor neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 HSMN - hereditary sensory and motor neuropathy DOID:2477 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 hereditary motor and sensory neuropathy DOID:2477 MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym neuropathic muscular atrophy DOID:2477 motor peripheral neuropathy DOID:2477 neuropathic muscular atrophy DOID:2477 @@ -410,7 +360,6 @@ MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal benign neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym laryngeal tumor DOID:2598 laryngeal benign neoplasm NCIT:C3156, DOID:2598 laryngeal tumor DOID:2598 MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 larynx neoplasm DOID:2598 -MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottis cancer DOID:2595 glottis cancer NCIT:C4923 glottis cancer DOID:2595 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of larynx DOID:2600 laryngeal carcinoma DOID:2600, NCIT:C4855 cancer of larynx DOID:2600 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma DOID:2632 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C8377 papillary serous carcinoma DOID:2632 @@ -434,7 +383,6 @@ MONDO:0002433 malignant cranial nerve neoplasm oio:hasExactSynonym oio:hasRelate MONDO:0002434 oculomotor nerve cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant oculomotor nerve tumor DOID:2816 malignant oculomotor nerve tumor DOID:2816 malignant oculomotor nerve tumor DOID:2816 MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor DOID:2817 cranial nerve III tumor DOID:2817 cranial nerve III tumor DOID:2817 MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumour DOID:2817 cranial nerve III tumor http://purl.obolibrary.org/obo/OMO_0003005 cranial nerve III tumour DOID:2817 -MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C7558 endometrial cancer DOID:1380 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes neoplasm of the prostate DOID:2885 benign prostate phyllodes tumor NCIT:C7574, DOID:2885 phyllodes neoplasm of the prostate DOID:2885 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor DOID:2885 benign prostate phyllodes tumor DOID:2885 prostate phyllodes tumor DOID:2885 MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumour DOID:2885 benign prostate phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 prostate phyllodes tumour DOID:2885 @@ -442,9 +390,7 @@ MONDO:0002459 type IV hypersensitivity disease oio:hasExactSynonym oio:hasRelate MONDO:0002464 lacrimal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the lacrimal gland DOID:294 lacrimal gland cancer NCIT:C4360, DOID:294 tumor of the lacrimal gland DOID:294 MONDO:0002466 eye carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of eye DOID:295 eye carcinoma MONDO:patterns/carcinoma, NCIT:C6079, DOID:295 carcinoma of eye DOID:295 MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed lacrimal gland cancer DOID:296 mixed lacrimal gland cancer DOID:296 mixed lacrimal gland cancer DOID:296 -MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy DOID:0111866 trichothiodystrophy DOID:2960, NCIT:C4924 trichothiodystrophy DOID:0111866 MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy DOID:2960 trichothiodystrophy with congenital ichthyosis DOID:2960 -MONDO:0002471 bursitis oio:hasExactSynonym oio:hasRelatedSynonym frozen shoulder DOID:14188 frozen shoulder MESH:D002062 frozen shoulder DOID:14188 MONDO:0002475 lacrimal gland adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma NCIT:C4541, DOID:298 adenocarcinoma of lacrimal gland DOID:298 MONDO:0002480 endometrioid tumor oio:hasExactSynonym oio:hasRelatedSynonym female reproductive endometrioid cancer DOID:3001 female reproductive endometrioid cancer DOID:3001 female reproductive endometrioid cancer DOID:3001 MONDO:0002480 endometrioid tumor oio:hasRelatedSynonym oio:hasExactSynonym female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer NCIT:C7113, DOID:3001 female reproductive endometrioid neoplasm DOID:3001 @@ -457,14 +403,11 @@ MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelate MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant phyllodes tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant phyllodes tumour DOID:3016 MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 phyllodes breast tumour DOID:3016 MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym colon signet ring adenocarcinoma DOID:3033 colon signet ring adenocarcinoma DOID:3033 colon signet ring adenocarcinoma DOID:3033 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C7049 astrocytic tumor DOID:3069 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C9022 astrocytic tumor DOID:3069 MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym acute gingivitis DOID:3087 gingivitis DOID:3087 acute gingivitis DOID:3087 MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis DOID:3087 gingivitis ICD9CM:523.1, DOID:3087 chronic gingivitis DOID:3087 MONDO:0002509 non-specific granulomatous orchitis oio:hasExactSynonym oio:hasBroadSynonym granulomatous orchitis DOID:3089 granulomatous orchitis NCIT:C27162, DOID:3089 granulomatous orchitis DOID:3089 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating and papillary adenocarcinoma infiltrating and papillary adenocarcinoma Infiltrating and papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 infiltrating and papillary adenocarcinoma DOID:3112 MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 infiltrating papillary adenocarcinoma DOID:3112 -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym oio:hasNarrowSynonym hepatobiliary benign neoplasm DOID:3117 hepatobiliary benign neoplasm DOID:3117 hepatobiliary benign neoplasm DOID:3117 MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor DOID:3119 gastrointestinal system cancer NCIT:C3052, DOID:3119 GI tumor DOID:3119 MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym Ulcer of anus DOID:3128 anus disease DOID:3128 Ulcer of anus DOID:3128 MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym anal fissure DOID:3128 anus disease DOID:3128 anal fissure DOID:3128 @@ -481,10 +424,7 @@ MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBro MONDO:0002529 skin squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma NCIT:C4819, DOID:3151 squamous cell carcinoma of skin DOID:3151 MONDO:0002531 skin neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skin benign neoplasm DOID:3165 skin benign neoplasm DOID:3165 skin benign neoplasm DOID:3165 MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma DOID:3172 papillary adenoma NCIT:C6880, DOID:3172 glandular papilloma DOID:3172 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4045 oligodendroglioma DOID:3181 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4014 oligodendroglioma DOID:3181 MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasNarrowSynonym adult brain oligodendroglioma DOID:3186 adult oligodendroglioma DOID:3186 adult brain oligodendroglioma DOID:3186 -MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia NCIT:C34932 aspiration pneumonia DOID:0050152 MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasNarrowSynonym chemical pneumonitis chemical pneumonitis Chemical pneumonitis DOID:3240 aspiration pneumonitis DOID:3240 chemical pneumonitis DOID:3240 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym bile duct rhabdomyosarcoma DOID:3254 bile duct rhabdomyosarcoma DOID:3254 bile duct rhabdomyosarcoma DOID:3254 MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change DOID:3274 proliferative type fibrocystic change of breast DOID:3274, NCIT:C6940 proliferative fibrocystic change DOID:3274 @@ -493,7 +433,6 @@ MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor MONDO:0002597 notochordal tumor oio:hasExactSynonym oio:hasRelatedSynonym notochordal cancer DOID:3303 notochordal cancer DOID:3303 notochordal cancer DOID:3303 MONDO:0002597 notochordal tumor oio:hasRelatedSynonym oio:hasExactSynonym notochordal tumor DOID:3303 notochordal cancer DOID:3303, NCIT:C7063 notochordal tumor DOID:3303 MONDO:0002604 pericytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant perivascular cancer DOID:3316 perivascular tumor DOID:3316 malignant perivascular cancer DOID:3316 -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma DOID:3347 osteosarcoma NCIT:C6585 osteosarcoma DOID:3347 MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym Ewing's sarcoma of bone DOID:3368 Ewing sarcoma of bone DOID:3368, NCIT:C4835 Ewing's sarcoma of bone DOID:3368 MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym bone Ewing's sarcoma DOID:3368 Ewing sarcoma of bone NCIT:C4835, DOID:3368 bone Ewing's sarcoma DOID:3368 MONDO:0002644 idiopathic granulomatous myositis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous myositis DOID:3428 granulomatous myositis DOID:3428 granulomatous myositis DOID:3428 @@ -507,16 +446,12 @@ MONDO:0002670 ampulla of vater adenocarcinoma oio:hasRelatedSynonym oio:hasExact MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast signet ring cell adenocarcinoma DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 MONDO:0002671 signet ring cell breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym signet Ring cell carcinoma of breast signet Ring cell carcinoma of breast signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma NCIT:C5175 signet Ring cell carcinoma of breast DOID:3503 MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant oio:hasExactSynonym oio:hasRelatedSynonym prostate signet ring cell adenocarcinoma DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C7809 fibrosarcoma DOID:3355 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C8088 fibrosarcoma DOID:3355 MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus DOID:3540 choroid plexus cancer DOID:3540 tumor of choroid plexus DOID:3540 MONDO:0002681 choroid plexus cancer oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer DOID:3540 choroid plexus neoplasm DOID:3540 -MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer NCIT:C8568 choroid plexus neoplasm DOID:3540 MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adult choroid plexus cancer DOID:3542 adult choroid plexus cancer DOID:3542 adult choroid plexus cancer DOID:3542 MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasExactSynonym adult choroid plexus tumor DOID:3542 adult choroid plexus cancer NCIT:C8568, DOID:3542 adult choroid plexus tumor DOID:3542 MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood choroid plexus cancer DOID:3545 childhood choroid plexus cancer DOID:3545 childhood choroid plexus cancer DOID:3545 MONDO:0002685 childhood choroid plexus carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer DOID:3545 childhood choroid plexus neoplasm DOID:3545 -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma DOID:3301 gonadoblastoma OMIM:424500 gonadoblastoma DOID:3301 MONDO:0002707 breast mucinous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma NCIT:C9131, DOID:3610 mucinous carcinoma of breast DOID:3610 MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm DOID:3620 central nervous system cancer DOID:3620 CNS neoplasm DOID:3620 MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor DOID:3620 central nervous system cancer DOID:3620 central nervous system tumor DOID:3620 @@ -539,11 +474,8 @@ MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym pr MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym preauricular sinus or fistula preauricular sinus or fistula Preauricular sinus or fistula DOID:379 external ear disease http://purl.obolibrary.org/obo/mondo#DUBIOUS DOID:379 preauricular sinus or fistula DOID:379 MONDO:0002785 skull base neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skull base cancer DOID:3842 skull base cancer DOID:3842 skull base cancer DOID:3842 MONDO:0002786 diencephalic cancer oio:hasExactSynonym oio:hasRelatedSynonym diencephalic neoplasm DOID:3843 diencephalic neoplasm DOID:3843 diencephalic neoplasm DOID:3843 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C4011 medulloblastoma DOID:0050902 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C3997 medulloblastoma DOID:0050902 MONDO:0002804 apocrine adenoma oio:hasExactSynonym oio:hasNarrowSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma NCIT:C27527, DOID:3895 tubular apocrine adenoma DOID:3895 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma DOID:3896 hidradenoma DOID:3896, NCIT:C7560 sweat gland adenoma DOID:3896 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma DOID:5442 eccrine acrospiroma NCIT:C7563 eccrine acrospiroma DOID:5442 MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm DOID:3953 adrenal gland cancer DOID:3953 adrenal neoplasm DOID:3953 MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland tumor of the Adrenal gland DOID:3953 adrenal gland cancer NCIT:C2859, DOID:3953 tumor of the adrenal gland DOID:3953 MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma DOID:3965 Merkel cell carcinoma DOID:3965 Merkel cell carcinoma DOID:3965 @@ -562,7 +494,6 @@ MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym primary b MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cerebellum cancer DOID:4205 cerebellum cancer DOID:4205 cerebellum cancer DOID:4205 MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum malignant tumor of Cerebellum DOID:4205 cerebellum cancer DOID:4205, NCIT:C3569 malignant tumor of cerebellum DOID:4205 MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym oio:hasNarrowSynonym hair disease DOID:421 hair disease MESH:D006201 hair disease DOID:421 -MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy DOID:14717 centronuclear myopathy NCIT:C84648 centronuclear myopathy DOID:14717 MONDO:0002935 penis basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma DOID:4277, NCIT:C39961 basal cell carcinoma of the penis DOID:4277 MONDO:0002940 anal margin basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma DOID:4283, NCIT:C7473 basal cell carcinoma of anal margin DOID:4283 MONDO:0002941 anal margin carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of anal margin DOID:4284 anal margin carcinoma DOID:4284, NCIT:C7472 carcinoma of anal margin DOID:4284 @@ -580,15 +511,11 @@ MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of t MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym uterine cervical neoplasm DOID:4362 cervical cancer DOID:4362 uterine cervical neoplasm DOID:4362 MONDO:0002977 autoimmune disorder of the nervous system oio:hasRelatedSynonym oio:hasExactSynonym autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system DOID:438, NCIT:C99383 autoimmune nervous system disorder DOID:438 MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues oio:hasExactSynonym oio:hasRelatedSynonym soft tissue peripheral neuroepithelioma DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial germinoma DOID:2127 brain germinoma Orphanet:91352 intracranial germinoma DOID:2127 MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism DOID:446 primary hyperaldosteronism DOID:446 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym hypopotassemia DOID:4500 hypokalemia DOID:4500 hypopotassemia DOID:4500 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder DOID:4500 hypokalemia DOID:4500 potassium deficiency disorder DOID:4500 -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma DOID:0001816 angiosarcoma NCIT:C9174 angiosarcoma DOID:0001816 MONDO:0003030 endometrioid stromal sarcoma of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervical endometrial stromal sarcoma DOID:4520 cervical endometrial stromal sarcoma DOID:4520 cervical endometrial stromal sarcoma DOID:4520 MONDO:0003031 endometrioid stromal and related neoplasms of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervix endometrial stromal tumor DOID:4521 cervix endometrial stromal tumor DOID:4521 cervix endometrial stromal tumor DOID:4521 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma DOID:4545 mesenchymal chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma DOID:4545 -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma NCIT:C8264 meningioma DOID:3565 MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasBroadSynonym bile duct tumor DOID:4606 bile duct cancer NCIT:C2898, DOID:4606 bile duct tumor DOID:4606 MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the extrahepatic bile duct DOID:4606 bile duct cancer NCIT:C7483, DOID:4606 malignant neoplasm of the extrahepatic bile duct DOID:4606 MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym muscle benign neoplasm DOID:461 muscle benign neoplasm DOID:461 muscle benign neoplasm DOID:461 @@ -603,43 +530,32 @@ MONDO:0003107 infratentorial cancer oio:hasExactSynonym oio:hasBroadSynonym brai MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor DOID:4737 somatoform disorder DOID:4737 physiological malfunction arising from mental factor DOID:4737 MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychophysiologic disorder DOID:4737 somatoform disorder DOID:4737 psychophysiologic disorder DOID:4737 MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychosomatic disorder DOID:4737 somatoform disorder DOID:4737 psychosomatic disorder DOID:4737 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:MGCT mixed germ cell tumor DOID:3306 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour DOID:3306 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis DOID:4743 mixed testicular germ cell tumor DOID:4743, NCIT:C6347 mixed germ cell tumor of testis DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumor DOID:4743 mixed testicular germ cell tumor DOID:4743 mixed testicular germ cell tumor DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour of testis DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour of testis DOID:4743 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumour DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 mixed testicular germ cell tumour DOID:4743 -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal neoplasm DOID:192 sex cord-gonadal stromal tumor DOID:4757 sex cord-stromal neoplasm DOID:192 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9091 brain stem glioma DOID:4202 MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym Gorham's disease DOID:4837 Gorham's disease MONDO:LexicalVariant, doi:10.1093/jama/9780195176339.003.0016 Gorham's disease DOID:4837 MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym massive osteolysis DOID:4837 Gorham's disease DOID:4837 massive osteolysis DOID:4837 MONDO:0003177 prostate adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma NCIT:C5539, DOID:4868 adenoid cystic carcinoma of prostate DOID:4868 MONDO:0003181 lung adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma DOID:4872, NCIT:C5666 adenoid cystic carcinoma of lung DOID:4872 MONDO:0003184 trachea carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the trachea DOID:4876 trachea carcinoma NCIT:C9347, DOID:4876 carcinoma of the trachea DOID:4876 -MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 Pancoast's tumour DOID:8007 MONDO:0003185 adenoid cystic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma DOID:4877, NCIT:C5130 adenoid cystic carcinoma of breast DOID:4877 MONDO:0003189 middle ear adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of middle Ear adenocarcinoma of middle Ear adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma NCIT:C6848 adenocarcinoma of middle Ear DOID:4892 MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle Ear carcinoma of middle Ear carcinoma of middle ear DOID:4893 middle ear carcinoma NCIT:C6089 carcinoma of middle Ear DOID:4893 MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle ear DOID:4893 middle ear carcinoma DOID:4893, MONDO:patterns/carcinoma carcinoma of middle ear DOID:4893 MONDO:0003195 peritoneal serous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym primary peritoneal serous adenocarcinoma DOID:4901 peritoneal serous adenocarcinoma DOID:4901 primary peritoneal serous adenocarcinoma DOID:4901 -MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendix cancer DOID:11239 appendix cancer NCIT:C9330 appendix cancer DOID:11239 MONDO:0003198 small intestine adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma DOID:4906, NCIT:C7888 adenocarcinoma of small intestine DOID:4906 -MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer DOID:14110 anus cancer NCIT:C9291 anal cancer DOID:14110 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym Ca anus DOID:4908 anal carcinoma DOID:4908 Ca anus DOID:4908 MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basophilic carcinoma DOID:4915 basophilic adenocarcinoma DOID:4915 basophilic carcinoma DOID:4915 MONDO:0003205 renal pelvis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma DOID:4918, NCIT:C6143 adenocarcinoma of renal pelvis DOID:4918 -MONDO:0003208 breast secretory carcinoma oio:hasRelatedSynonym oio:hasExactSynonym cystic hypersecretory carcinoma of the breast DOID:7537 breast cystic hypersecretory carcinoma NCIT:C4189 cystic hypersecretory carcinoma of the breast DOID:7537 MONDO:0003211 nasal cavity adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma NCIT:C6015, DOID:4930 adenocarcinoma of nasal cavity DOID:4930 -MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer DOID:10811 nasal cavity cancer NCIT:C9336 nasal cavity cancer DOID:10811 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931 cancer of nasal cavity DOID:4931 MONDO:0003212 nasal cavity carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931, MONDO:patterns/carcinoma carcinoma of nasal cavity DOID:4931 MONDO:0003216 ureter adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma DOID:4938, NCIT:C6155 adenocarcinoma of ureter DOID:4938 MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma DOID:4944, NCIT:C9296 adenocarcinoma of gastroesophageal junction DOID:4944 -MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer DOID:3121 gallbladder cancer NCIT:C3844 gallbladder cancer DOID:3121 MONDO:0003231 acute nonparalytic poliomyelitis oio:hasExactSynonym oio:hasNarrowSynonym non-paralytic aseptic meningitis DOID:4986 nonparalytic poliomyelitis DOID:4986 non-paralytic aseptic meningitis DOID:4986 MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym essential hereditary tremor DOID:4990 essential tremor DOID:4990 essential hereditary tremor DOID:4990 MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym optic tract astrocytoma DOID:4991 optic nerve astrocytoma MONDO:patterns/location, DOID:4991 optic tract astrocytoma DOID:4991 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma DOID:0081248 pineocytoma DOID:5032 pinealoma DOID:0081248 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region neoplasm of the Pineal Region DOID:5032 pineal gland cancer DOID:5032 neoplasm of the pineal region DOID:5032 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic tumor DOID:5032 pineal gland cancer DOID:5032 pineocytic tumor DOID:5032 MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region DOID:5032 pineal gland cancer DOID:5032 tumor of the pineal region DOID:5032 @@ -651,7 +567,6 @@ MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thorax neo MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax DOID:5093 thoracic cancer DOID:5093 tumor of thorax DOID:5093 MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear DOID:5099 middle ear cancer NCIT:C4412, DOID:5099 tumor of the middle ear DOID:5099 MONDO:0003277 malignant ear neoplasm oio:hasExactSynonym oio:hasRelatedSynonym auricular cancer DOID:5101 ear cancer DOID:5101 auricular cancer DOID:5101 -MONDO:0003282 ovarian cyst oio:hasExactSynonym oio:hasRelatedSynonym corpus luteum cyst DOID:13050 corpus luteum cyst MESH:D010048 corpus luteum cyst DOID:13050 MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma DOID:5157 benign pleural mesothelioma DOID:5157 benign pleural mesothelioma DOID:5157 MONDO:0003312 ovarian endometrioid stromal and related neoplasms oio:hasExactSynonym oio:hasRelatedSynonym ovarian endometrioid stromal sarcoma DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 MONDO:0003313 endometrioid stromal sarcoma of the vagina oio:hasExactSynonym oio:hasRelatedSynonym vaginal endometrial stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 @@ -664,19 +579,12 @@ MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:ha MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:hasRelatedSynonym blastema predominant kidney Wilms' tumour DOID:5182 blastema predominant kidney Wilms' tumor http://purl.obolibrary.org/obo/OMO_0003005 blastema predominant kidney Wilms' tumour DOID:5182 MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 DOID:5183 hereditary Wilms' tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 WT1 DOID:5183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hilar cholangiocellular carcinoma DOID:4927 Klatskin's tumor DOID:5246 hilar cholangiocellular carcinoma DOID:4927 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma DOID:0081028 glycogen-rich carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma DOID:0081028 MONDO:0003392 fallopian tube germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube germ cell cancer DOID:5324 fallopian tube germ cell cancer DOID:5324 fallopian tube germ cell cancer DOID:5324 MONDO:0003392 fallopian tube germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer DOID:5324, NCIT:C40130 fallopian tube germ cell neoplasm DOID:5324 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor pediatric central nervous system Yolk Sac tumor DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C6209 pediatric central nervous system yolk Sac tumor DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac tumor of the CNS DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C7011 yolk Sac tumor of the CNS DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym paediatric central nervous system yolk Sac tumour paediatric central nervous system yolk Sac tumour paediatric central nervous system Yolk Sac tumour DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 paediatric central nervous system yolk Sac tumour DOID:5343 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour of the CNS yolk Sac tumour of the CNS Yolk Sac tumour of the CNS DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour of the CNS DOID:5343 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:TYST yolk sac tumor DOID:1911 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor yolk sac tumor DOID:1911 endodermal sinus tumor NCIT:C27241 yolk Sac tumor DOID:1911 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour yolk Sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk Sac tumour DOID:1911 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6285 central nervous system germ cell tumor DOID:4439 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system germ cell tumour DOID:4439 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumor DOID:5349 central nervous system adult germ cell tumor DOID:5349 central nervous system adult germ cell tumor DOID:5349 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumour DOID:5349 central nervous system adult germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system adult germ cell tumour DOID:5349 MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym non-organic sleep disorder non-organic sleep disorder Non-organic sleep disorder DOID:535 sleep disorder DOID:535 non-organic sleep disorder DOID:535 @@ -699,7 +607,6 @@ MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma DOID:5444 spiradenoma NCIT:C4170 eccrine spiradenoma DOID:5444 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma of skin eccrine spiradenoma of skin Eccrine spiradenoma of skin DOID:5444 spiradenoma DOID:5444 eccrine spiradenoma of skin DOID:5444 MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival tumor DOID:5467 conjunctival cancer DOID:5467, NCIT:C2961 conjunctival tumor DOID:5467 -MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma DOID:4441 dysgerminoma ONCOTREE:ODYS dysgerminoma DOID:4441 MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma DOID:5522 basaloid squamous cell carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma DOID:5522 MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 acantholytic squamous cell carcinoma DOID:5524 MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoacanthoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 adenoacanthoma DOID:5524 @@ -714,11 +621,8 @@ MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRela MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumour of anus DOID:5545 anal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 neuroendocrine tumour of anus DOID:5545 MONDO:0003505 femoral cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of femur DOID:5546 femoral cancer DOID:5546 neoplasm of femur DOID:5546 MONDO:0003505 femoral cancer oio:hasRelatedSynonym oio:hasBroadSynonym femoral neoplasm DOID:5546 femoral cancer DOID:5546 femoral neoplasm DOID:5546 -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:TCCA choriocarcinoma DOID:3594 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer DOID:2998 testicular cancer NCIT:C9063 testicular cancer DOID:2998 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular malignant germ cell cancer DOID:5556 testicular malignant germ cell cancer DOID:5556 testicular malignant germ cell cancer DOID:5556 MONDO:0003514 malignant teratoma oio:hasExactSynonym oio:hasNarrowSynonym malignant extragonadal teratoma malignant extragonadal teratoma malignant Extragonadal teratoma DOID:5563 malignant teratoma DOID:5563 malignant extragonadal teratoma DOID:5563 -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma DOID:3307 teratoma NCIT:C9013 teratoma DOID:3307 MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasNarrowSynonym malignant gastrinoma DOID:5577 gastrinoma DOID:5577 malignant gastrinoma DOID:5577 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma DOID:5579 gastric gastrinoma DOID:5579 gastric gastrinoma DOID:5579 MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma DOID:5591 eccrine papillary adenocarcinoma DOID:5591 digital papillary adenocarcinoma DOID:5591 @@ -726,7 +630,6 @@ MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSyno MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma DOID:5592 breast papillary carcinoma DOID:5592 breast solid papillary carcinoma DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of breast DOID:5592 breast papillary carcinoma NCIT:C9134, DOID:5592 papillary carcinoma of breast DOID:5592 MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma DOID:5592 solid papillary carcinoma of the breast DOID:5592 -MONDO:0003544 spinal cord cancer oio:hasRelatedSynonym oio:hasExactSynonym spinal cord cancer DOID:14150 spinal cord lymphoma MONDO:patterns/location spinal cord cancer DOID:14150 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym intraspinal tumor intraspinal tumor Intraspinal tumor DOID:5612 spinal cancer NCIT:C3382, DOID:5612 intraspinal tumor DOID:5612 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm DOID:5612 spinal cancer DOID:5612 spinal cord neoplasm DOID:5612 MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord tumor of the Spinal Cord DOID:5612 spinal cancer DOID:5612, NCIT:C3381 tumor of the spinal cord DOID:5612 @@ -734,51 +637,33 @@ MONDO:0003545 intradural extramedullary spinal canal neoplasm oio:hasExactSynony MONDO:0003554 adenosquamous colon carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma NCIT:C5491, DOID:5629 adenosquamous carcinoma of colon DOID:5629 MONDO:0003558 adenosquamous prostate carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma NCIT:C5538, DOID:5634 adenosquamous carcinoma of prostate DOID:5634 MONDO:0003579 retinal nerve fiber layer disorder oio:hasExactSynonym oio:hasRelatedSynonym nerve fibre bundle defect DOID:5678 nerve fibre bundle defect http://purl.obolibrary.org/obo/OMO_0003005 nerve fibre bundle defect DOID:5678 -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:OEC embryonal carcinoma DOID:3308 MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym HBOC syndrome DOID:5683 hereditary breast ovarian cancer syndrome MESH:D061325 HBOC syndrome DOID:5683 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C7811 liposarcoma DOID:3382 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C8091 liposarcoma DOID:3382 MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hormone producing pituitary cancer DOID:5716 hormone producing pituitary cancer DOID:5716 hormone producing pituitary cancer DOID:5716 MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym somatotropinoma somatotropinoma Somatotropinoma DOID:5716 hormone producing pituitary cancer DOID:5716, NCIT:C7911 somatotropinoma DOID:5716 MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm DOID:5719 adrenal medulla cancer DOID:5719 adrenal medulla neoplasm DOID:5719 MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor DOID:5719 adrenal medulla cancer DOID:5719 adrenal medulla tumor DOID:5719 MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral nerve disease DOID:574 peripheral nervous system disease MTH:516, DOID:574, NCIT:C27580, MESH:D010523 peripheral nerve disease DOID:574 MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:574 peripheral nervous system disease MESH:D010523, DOID:574 peripheral neuropathy DOID:574 -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:870 neuropathy MESH:D010523, DOID:574 peripheral neuropathy DOID:870 MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym oio:hasRelatedSynonym lung clear cell-sugar-tumor DOID:5763 lung clear cell-sugar-tumor DOID:5763 lung clear cell-sugar-tumor DOID:5763 MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym central nervous system hematologic cancer DOID:5772 central nervous system hematologic cancer DOID:5772 central nervous system hematologic cancer DOID:5772 MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer DOID:5772, NCIT:C5503 hematopoietic neoplasm of central nervous system DOID:5772 MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of rectum DOID:5777 rectum neuroendocrine neoplasm DOID:5777, ORCID:0000-0002-0587-4693 neuroendocrine tumor of rectum DOID:5777 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C5165 lymphoma DOID:0060058 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C7587 lymphoma DOID:0060058 MONDO:0003688 well differentiated papillary mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym benign intermediate mesothelioma DOID:5884 benign intermediate mesothelioma DOID:5884 benign intermediate mesothelioma DOID:5884 -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma DOID:5889 anaplastic ependymoma NCIT:C8269 anaplastic ependymoma DOID:5889 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C8097 malignant mesenchymoma DOID:5758 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C7947 malignant mesenchymoma DOID:5758 MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym oio:hasRelatedSynonym penis non-invasive verrucous carcinoma DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:OMGCT mixed germ cell tumor DOID:3306 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 mixed germ cell tumour DOID:3306 MONDO:0003725 breast adenosis oio:hasExactSynonym oio:hasRelatedSynonym microglandular adenosis DOID:5998 microglandular adenosis DOID:5998 microglandular adenosis DOID:5998 MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym subleukemic leukemia DOID:12965 subleukemic leukemia DOID:12965 subleukemic leukemia DOID:12965 -MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym aleukemic myelosis aleukemic myelosis Aleukemic myelosis DOID:4971 myelofibrosis DOID:6004 aleukemic myelosis DOID:4971 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:BMT mature teratoma DOID:5566 -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:BIMT immature teratoma DOID:5563 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumor juvenile granulosa cell tumor Juvenile granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 juvenile granulosa cell tumor DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell neoplasm DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 juvenile type granulosa cell neoplasm DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumor juvenile type granulosa cell tumor Juvenile type Granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor NCIT:C4207, DOID:6032 juvenile type granulosa cell tumor DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumour juvenile granulosa cell tumour Juvenile granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 juvenile granulosa cell tumour DOID:6032 MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumour juvenile type granulosa cell tumour Juvenile type Granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 juvenile type granulosa cell tumour DOID:6032 MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer esophageal Ulcer DOID:6050 esophageal disease DOID:6050, NCIT:C26950 esophageal ulcer DOID:6050 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6205 central nervous system germ cell tumor DOID:4439 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 central nervous system germ cell tumour DOID:4439 -MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym germ cell tumour DOID:2994 germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 germ cell tumour DOID:2994 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric germ cell cancer DOID:6053 childhood germ cell cancer DOID:6053 pediatric germ cell cancer DOID:6053 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym paediatric germ cell cancer DOID:6053 childhood germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 paediatric germ cell cancer DOID:6053 MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym pediatric germ cell tumor DOID:6053 childhood germ cell cancer DOID:6053, NCIT:C7928 pediatric germ cell tumor DOID:6053 MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm DOID:6067 ovarian mucinous neoplasm DOID:6067 malignant ovarian mucinous neoplasm DOID:6067 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor DOID:6083 childhood ovarian endodermal sinus tumor NCIT:C6551 childhood ovarian endodermal sinus tumor DOID:6083 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumour DOID:6083 childhood ovarian endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 childhood ovarian endodermal sinus tumour DOID:6083 -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym ovarian germ cell tumor DOID:2156 ovarian germ cell cancer NCIT:C8588 ovarian germ cell tumor DOID:2156 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal cancer DOID:6086 malignant leptomeningeal neoplasm NCIT:C8506 leptomeningeal cancer DOID:6086 MONDO:0003766 thalamic cancer oio:hasExactSynonym oio:hasRelatedSynonym thalamic neoplasm DOID:6098 thalamic neoplasm DOID:6098 thalamic neoplasm DOID:6098 MONDO:0003767 mitral valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic disease of mitral valve DOID:61 mitral valve disease DOID:61 rheumatic disease of mitral valve DOID:61 @@ -801,13 +686,10 @@ MONDO:0003788 childhood embryonal testis carcinoma oio:hasRelatedSynonym oio:has MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym oio:hasRelatedSynonym rectum Kaposi's sarcoma DOID:6190 rectum Kaposi's sarcoma DOID:6190 rectum Kaposi's sarcoma DOID:6190 MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal tumor DOID:6199 cornea cancer DOID:6199, NCIT:C4361 corneal tumor DOID:6199 MONDO:0003805 malignant pericardial mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym pericardial mesothelioma DOID:6201 pericardial mesothelioma MONDO:ambiguous pericardial mesothelioma DOID:6201 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:OMT mature teratoma DOID:5566 MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary DOID:6231 mature teratoma of the ovary NCIT:C8112 mature teratoma of the ovary DOID:6231 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting adenoma of the Pituitary DOID:6275 TSH producing pituitary tumor DOID:6275, NCIT:C8011 TSH secreting adenoma of the pituitary DOID:6275 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma DOID:6275 TSH producing pituitary tumor thyrotroph adenoma DOID:6275 -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma DOID:4848 cerebellar astrocytoma NCIT:C6286 cerebellar astrocytoma DOID:4848 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disease DOID:630 genetic disease genetic disease DOID:630 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9042 brain stem glioma DOID:4202 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis DOID:6474 childhood teratocarcinoma of the testis NCIT:C6539 childhood teratocarcinoma of the testis DOID:6474 MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant oio:hasExactSynonym oio:hasRelatedSynonym clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym lung acinar adenocarcinoma DOID:6482 lung acinar adenocarcinoma DOID:6482 lung acinar adenocarcinoma DOID:6482 @@ -822,19 +704,12 @@ MONDO:0003945 bone epithelioid hemangioma oio:hasExactSynonym oio:hasBroadSynony MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome NCIT:C3990 hyperimmunoglobulin M syndrome DOID:0080544 MONDO:0003954 angiokeratoma of Fordyce oio:hasExactSynonym oio:hasNarrowSynonym Fordyce-type angiokeratoma of scrotum Fordyce-type angiokeratoma of scrotum Fordyce-type Angiokeratoma of scrotum DOID:664 angiokeratoma of Fordyce DOID:664 Fordyce-type angiokeratoma of scrotum DOID:664 MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast juvenile papillomatosis DOID:6641 breast juvenile papillomatosis DOID:6641 breast juvenile papillomatosis DOID:6641 -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma DOID:1664 pineoblastoma NCIT:C8292 pineoblastoma DOID:1664 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 fibrodysplasia ossificans progressiva DOID:13374 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 progressive myositis ossificans DOID:13374 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive ossifying myositis DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 progressive ossifying myositis DOID:13374 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma DOID:6700, NCIT:C8398 cancer of fundus of stomach DOID:6700 MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer DOID:6741 bilateral breast cancer DOID:6741, NCIT:C8287 bilateral breast cancer DOID:6741 MONDO:0003985 chest wall lymphoma oio:hasExactSynonym oio:hasBroadSynonym chest wall cancer DOID:6758 chest wall lymphoma DOID:6758 chest wall cancer DOID:6758 -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-type Embryonal Rhabdomyosarcoma DOID:3255 botryoid rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma DOID:3255 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma DOID:4851 pilocytic astrocytoma NCIT:C4048 pilocytic astrocytoma DOID:4851 MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym adult vagina botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial polyp DOID:6873 skin tag NCIT:C3337, DOID:6873 fibroepithelial polyp DOID:6873 MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma DOID:6933 bladder transitional cell papilloma DOID:6933 bladder transitional cell papilloma DOID:6933 -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma DOID:4653 intraocular retinoblastoma NCIT:C9047 intraocular retinoblastoma DOID:4653 MONDO:0004056 bladder papillary urothelial carcinoma oio:hasExactSynonym oio:hasRelatedSynonym bladder urothelial papillary carcinoma DOID:6975 bladder urothelial papillary carcinoma DOID:6975 bladder urothelial papillary carcinoma DOID:6975 MONDO:0004056 bladder papillary urothelial carcinoma oio:hasRelatedSynonym oio:hasExactSynonym urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma NCIT:C7383, DOID:6975 urothelial papillary carcinoma of the bladder DOID:6975 MONDO:0004062 intermediate cell type uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym intraocular mixed cell type melanoma DOID:6992 intraocular mixed cell type melanoma DOID:6992 intraocular mixed cell type melanoma DOID:6992 @@ -842,7 +717,6 @@ MONDO:0004063 intermediate cell type iris melanoma oio:hasExactSynonym oio:hasRe MONDO:0004064 iris melanoma oio:hasExactSynonym oio:hasRelatedSynonym malignant iris melanoma DOID:6994 malignant iris melanoma DOID:6994 malignant iris melanoma DOID:6994 MONDO:0004067 gallbladder mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym gallbladder mucinous carcinoma DOID:6998 gallbladder mucinous carcinoma DOID:6998 gallbladder mucinous carcinoma DOID:6998 MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial metabolism disease DOID:700 mitochondrial metabolism disease DOID:700 mitochondrial metabolism disease DOID:700 -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma DOID:3069 malignant astrocytoma NCIT:C4347 cerebral astrocytoma DOID:3069 MONDO:0004079 lung mucous gland adenoma oio:hasExactSynonym oio:hasRelatedSynonym bronchial mucus gland adenoma DOID:7030 bronchial mucus gland adenoma DOID:7030 bronchial mucus gland adenoma DOID:7030 MONDO:0004080 glottis squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma NCIT:C8186, DOID:7031 squamous cell carcinoma of glottis DOID:7031 MONDO:0004087 basaloid large cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid lung carcinoma DOID:7045 basaloid lung carcinoma DOID:7045 basaloid lung carcinoma DOID:7045 @@ -851,7 +725,6 @@ MONDO:0004091 skin basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma DOID:7051 esophageal basaloid squamous cell carcinoma NCIT:C7032 esophageal basaloid squamous cell carcinoma DOID:7051 MONDO:0004095 B-cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym B-cell lymphoma DOID:707 B-cell lymphoma DOID:707 B-cell lymphoma DOID:707 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma NCIT:C9424, DOID:7081 small cell and large cell carcinoma of the lung DOID:7081 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C8095 epithelioid sarcoma DOID:6193 MONDO:0004106 testicular yolk sac tumor, macrocystic pattern oio:hasExactSynonym oio:hasRelatedSynonym macrocystic pattern testicular yolk sac tumor DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasRelatedSynonym oio:hasExactSynonym small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma DOID:7132, NCIT:C9461 small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 MONDO:0004120 Bartholin gland small cell carcinoma oio:hasNarrowSynonym oio:hasExactSynonym Bartholin gland small cell carcinoma DOID:7140 Bartholin's gland small cell carcinoma NCIT:C40298, DOID:7140 Bartholin gland small cell carcinoma DOID:7140 @@ -876,16 +749,11 @@ MONDO:0004182 stage IVb bladder cancer oio:hasRelatedSynonym oio:hasExactSynonym MONDO:0004192 urethra cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of urethra DOID:734 urethra cancer DOID:734, MONDO:patterns/cancer cancer of urethra DOID:734 MONDO:0004198 testicular yolk sac tumor, solid pattern oio:hasExactSynonym oio:hasRelatedSynonym solid pattern testicular yolk sac tumor DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma DOID:3304 germinoma NCIT:C8712 germinoma DOID:3304 MONDO:0004221 uterine corpus perivascular epithelioid cell tumor oio:hasExactSynonym oio:hasRelatedSynonym uterus perivascular epithelioid cell tumor DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 MONDO:0004227 epididymal adenomatoid tumor oio:hasRelatedSynonym oio:hasExactSynonym adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor DOID:745, NCIT:C6382 adenomatoid neoplasm of the epididymis DOID:745 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelioma DOID:2645 benign mesothelioma NCIT:C3762 benign mesothelioma DOID:2645 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium benign tumor of Mesothelium DOID:2645 benign mesothelioma NCIT:C3762 benign tumor of mesothelium DOID:2645 MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma DOID:7497 brain ependymoma DOID:7497 brain ependymoma DOID:7497 -MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma DOID:0080890 supratentorial ependymoma NCIT:C9043 supratentorial ependymoma DOID:0080890 MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis DOID:7511 breast intraductal papillomatosis DOID:7511 breast intraductal papillomatosis DOID:7511 MONDO:0004258 female orgasmic disorder oio:hasExactSynonym oio:hasRelatedSynonym inhibited female orgasm DOID:7518 inhibited female orgasm DOID:7518 inhibited female orgasm DOID:7518 -MONDO:0004259 endocervical carcinoma oio:hasExactSynonym oio:hasNarrowSynonym endocervical adenocarcinoma DOID:0050940 endocervical adenocarcinoma NCIT:C28327 endocervical adenocarcinoma DOID:0050940 MONDO:0004272 urinary bladder tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym bladder tuberculosis DOID:754 bladder tuberculosis DOID:754 bladder tuberculosis DOID:754 MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements DOID:7553 MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements DOID:7553 @@ -893,7 +761,6 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma DOID:7578 breast scirrhous carcinoma DOID:7578 breast scirrhous carcinoma DOID:7578 MONDO:0004289 glottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma DOID:7583, NCIT:C8189 verrucous carcinoma of glottis DOID:7583 MONDO:0004292 supraglottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma NCIT:C8191, DOID:7586 verrucous carcinoma of the supraglottis DOID:7586 -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 MONDO:0004311 carcinoma of Cowper glands oio:hasExactSynonym oio:hasRelatedSynonym Cowper gland carcinoma DOID:7632 Cowper gland carcinoma DOID:7632 Cowper gland carcinoma DOID:7632 MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin DOID:7643 acantholytic squamous cell skin carcinoma DOID:7643 acantholytic squamous cell carcinoma of skin DOID:7643 MONDO:0004320 adult infiltrating astrocytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym adult infiltrating astrocytoma adult infiltrating astrocytoma adult Infiltrating astrocytoma DOID:7656 adult infiltrating astrocytic neoplasm MTH:NOCODE, DOID:7656 adult infiltrating astrocytoma DOID:7656 @@ -902,18 +769,7 @@ MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym pancreatic ACTH hormone producing tumour DOID:7697 pancreatic ACTH hormone producing tumor http://purl.obolibrary.org/obo/OMO_0003005 pancreatic ACTH hormone producing tumour DOID:7697 MONDO:0004336 rectal signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym rectum signet ring adenocarcinoma DOID:7707 rectum signet ring adenocarcinoma DOID:7707 rectum signet ring adenocarcinoma DOID:7707 MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma DOID:264 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C8094 malignant peripheral nerve sheath tumor DOID:5940 -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma DOID:4656 extraocular retinoblastoma NCIT:C9048 extraocular retinoblastoma DOID:4656 -MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma DOID:7497 brain ependymoma NCIT:C9372 brain ependymoma DOID:7497 -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia DOID:1240 leukemia NCIT:C4989 leukemia DOID:1240 -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma DOID:5503 spinal cord ependymoma NCIT:C27399 spinal cord ependymoma DOID:5503 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma DOID:5058 rhabdoid meningioma NCIT:C8293 papillary meningioma DOID:5058 -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma DOID:3357 extraosseous osteosarcoma NCIT:C7925 extraskeletal osteosarcoma DOID:3357 MONDO:0004379 female breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of female breast DOID:7843 female breast carcinoma NCIT:C2918, DOID:7843 carcinoma of female breast DOID:7843 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma DOID:6262 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma DOID:6262 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C5792 central nervous system germinoma DOID:4438 MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7903 MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern oio:hasExactSynonym oio:hasRelatedSynonym glandular-alveolar pattern testicular yolk sac tumor DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 MONDO:0004423 central nervous system extraskeletal osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym central nervous system osteosarcoma DOID:7994 central nervous system osteosarcoma DOID:7994 central nervous system osteosarcoma DOID:7994 @@ -940,20 +796,14 @@ MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the pelvic region and thigh hemarthrosis of the pelvic region and thigh Hemarthrosis of the pelvic region and thigh DOID:801 hemarthrosis DOID:801 hemarthrosis of the pelvic region and thigh DOID:801 MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the upper arm hemarthrosis of the upper arm Hemarthrosis of the upper arm DOID:801 hemarthrosis DOID:801 hemarthrosis of the upper arm DOID:801 MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of upper arm hemarthrosis of upper arm Hemarthrosis of upper arm DOID:801 hemarthrosis DOID:801 hemarthrosis of upper arm DOID:801 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C27406 Central nervous system germinoma DOID:4438 MONDO:0004453 testicular yolk sac tumor, myxomatous pattern oio:hasExactSynonym oio:hasRelatedSynonym myxomatous pattern testicular yolk sac tumor DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 MONDO:0004468 anal canal Paget disease oio:hasRelatedSynonym oio:hasExactSynonym Paget's disease of anal canal DOID:8119 anal canal Paget's disease DOID:8119, NCIT:C7477 Paget's disease of anal canal DOID:8119 MONDO:0004471 bacterial arthritis oio:hasExactSynonym oio:hasBroadSynonym infectious arthritis DOID:813 septic arthritis DOID:813 infectious arthritis DOID:813 -MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasBroadSynonym OAT DOID:0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:OAT OAT DOID:0070311 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid Hurthle cell adenoma DOID:8162 thyroid Hurthle cell adenoma NCIT:C6042 thyroid Hurthle cell adenoma DOID:8162 -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:UCCA choriocarcinoma DOID:3594 MONDO:0004493 testicular yolk sac tumor, papillary pattern oio:hasExactSynonym oio:hasRelatedSynonym papillary pattern testicular yolk sac tumor DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 MONDO:0004494 testicular yolk sac tumor, hepatoid pattern oio:hasExactSynonym oio:hasRelatedSynonym hepatoid pattern testicular yolk sac tumor DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 -MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer DOID:7696 lung hilum cancer NCIT:C7454 lung hilum cancer DOID:7696 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis DOID:8243 meningeal melanomatosis NCIT:C6891, DOID:8243 leptomeningeal melanomatosis DOID:8243 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C7944 epithelioid sarcoma DOID:6193 MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell variant cervical adenosquamous carcinoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C7814 malignant peripheral nerve sheath tumor DOID:5940 MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis DOID:8408 Meckel's diverticulitis NCIT:C27300 Meckel's diverticulitis DOID:8408 MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma DOID:8419 colloid adenoma DOID:8419 colloid adenoma DOID:8419 MONDO:0004601 ulcer of lower limbs oio:hasExactSynonym oio:hasNarrowSynonym Ulcer of ankle DOID:8529 ulcer of lower limbs DOID:8529 Ulcer of ankle DOID:8529 @@ -964,7 +814,6 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym orophar MONDO:0004609 herpes simplex infectious disease oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex DOID:8566 herpes simplex herpes simplex DOID:8566 MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym oio:hasNarrowSynonym acute intestinal vascular insufficiency DOID:8590 acute vascular insufficiency of intestine DOID:8590 acute intestinal vascular insufficiency DOID:8590 MONDO:0004627 duodenitis oio:hasExactSynonym oio:hasNarrowSynonym hemorrhagic duodenitis hemorrhagic duodenitis Hemorrhagic duodenitis DOID:8643 duodenitis MTH:NOCODE, DOID:8643 hemorrhagic duodenitis DOID:8643 -MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasRelatedSynonym tongue carcinoma DOID:0080641 tongue carcinoma GARD:0007779 tongue carcinoma DOID:0080641 MONDO:0004633 Hodgkin's lymphoma, mixed cellularity oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's disease, mixed cellularity DOID:8654 Hodgkin's lymphoma, mixed cellularity DOID:8654 Hodgkin's disease, mixed cellularity DOID:8654 MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym enterocolitis necrotizing enterocolitis necrotizing ENTEROCOLITIS NECROTIZING DOID:8677 perinatal necrotizing enterocolitis DOID:8677, MTH:NOCODE enterocolitis necrotizing DOID:8677 MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym necrotizing enterocolitis DOID:8677 perinatal necrotizing enterocolitis DOID:8677 necrotizing enterocolitis DOID:8677 @@ -975,7 +824,6 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor DOID:8731 carotid body cancer NCIT:C3574 malignant carotid body tumor DOID:8731 MONDO:0004664 helminthiasis oio:hasExactSynonym oio:hasRelatedSynonym worm infection DOID:883 parasitic helminthiasis infectious disease DOID:883 worm infection DOID:883 MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's lymphoma, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 -MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym dermatomycosis DOID:1563 dermatomycosis MESH:D003881 dermatomycosis DOID:1563 MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm DOID:8913 dermatophytosis Wikipedia:Dermatophytosis ringworm DOID:8913 MONDO:0004684 plantar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym plantar fascial fibromatosis DOID:8936 plantar fascial fibromatosis DOID:8936 plantar fascial fibromatosis DOID:8936 MONDO:0004687 severe nonproliferative diabetic retinopathy oio:hasExactSynonym oio:hasRelatedSynonym severe npdr severe npdr Severe NPDR DOID:8946 severe nonproliferative diabetic retinopathy severe npdr DOID:8946 @@ -989,7 +837,6 @@ MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasNarrowSynonym herpes simplex virus eyelid dermatitis DOID:9123 eczema herpeticum DOID:9123 herpes simplex virus eyelid dermatitis DOID:9123 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver DOID:918 liver inflammatory pseudotumor DOID:918, NCIT:C5858 inflammatory pseudotumor of the liver DOID:918 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor DOID:918 liver inflammatory pseudotumor NCIT:C5858 liver inflammatory pseudotumor DOID:918 -MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym ondine syndrome ondine syndrome Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome MESH:D020182 ondine syndrome DOID:0060731 MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym central sleep apnea DOID:9220 central sleep apnea MESH:D020182 central sleep apnea DOID:9220 MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary central sleep apnea DOID:9220 central sleep apnea DOID:9220 primary central sleep apnea DOID:9220 MONDO:0004731 central sleep apnea syndrome oio:hasRelatedSynonym oio:hasExactSynonym central sleep apnea syndrome DOID:9220 central sleep apnea MESH:D020182, NCIT:C27169, DOID:9220 central sleep apnea syndrome DOID:9220 @@ -1002,8 +849,6 @@ MONDO:0004751 disease of orbital part of eye adnexa oio:hasExactSynonym oio:hasR MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis DOID:9312 chronic ethmoiditis DOID:9312 chronic ethmoiditis DOID:9312 MONDO:0004769 orbital pseudotumor oio:hasExactSynonym oio:hasRelatedSynonym orbital myositis DOID:9369 orbital plasma cell granuloma DOID:9369, ICD9CM:376.12 orbital myositis DOID:9369 MONDO:0004773 iridocyclitis oio:hasExactSynonym oio:hasNarrowSynonym primary iridocyclitis DOID:9383 iridocyclitis DOID:9383 primary iridocyclitis DOID:9383 -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis DOID:3437 laryngitis NCIT:C26688 laryngitis DOID:3437 -MONDO:0004784 allergic asthma oio:hasExactSynonym oio:hasRelatedSynonym atopic asthma DOID:0080811 extrinsic asthma DOID:9415 atopic asthma DOID:0080811 MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis DOID:9471 meningitis DOID:9471 meningitis DOID:9471 MONDO:0004815 osteosclerotic plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma DOID:9541 osteosclerotic myeloma DOID:9541 MONDO:0004817 non-secretory plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym non-secretory myeloma DOID:9547 non-secretory myeloma DOID:9547 non-secretory myeloma DOID:9547 @@ -1011,19 +856,13 @@ MONDO:0004829 Krukenberg carcinoma oio:hasRelatedSynonym oio:hasExactSynonym Kru MONDO:0004845 aphthous stomatitis oio:hasExactSynonym oio:hasRelatedSynonym canker sore canker sore Canker sore DOID:9663 aphthous stomatitis DOID:9663 canker sore DOID:9663 MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal ophthalmia neonatorum DOID:9699 ophthalmia neonatorum DOID:9699 gonococcal ophthalmia neonatorum DOID:9699 MONDO:0004889 total central choroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym central gyrate choroidal dystrophy DOID:9820 central gyrate choroidal dystrophy central gyrate choroidal dystrophy DOID:9820 -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata DOID:986 alopecia areata NCIT:C50575 alopecia areata DOID:986 -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis DOID:950 dacryoadenitis MESH:D003607 dacryoadenitis DOID:950 MONDO:0004947 B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasRelatedSynonym precursor B lymphoblastic lymphoma/leukemia DOID:0080630 B-lymphoblastic leukemia/lymphoma DOID:7061 precursor B lymphoblastic lymphoma/leukemia DOID:0080630 -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym CLL DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151400, MONDO:Lexical, NCIT:C3163, DOID:1040 CLL DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym B-cell chronic lymphoid leukemia DOID:1040 chronic lymphocytic leukemia DOID:1040, NCIT:C3163, Orphanet:67038 B-cell chronic lymphoid leukemia DOID:1040 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer DOID:10534 stomach cancer NCIT:C4911 gastric cancer DOID:10534 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer DOID:10534 stomach cancer NCIT:C4911 stomach cancer DOID:10534 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym Ca fundus - stomach DOID:10538 gastric fundus cancer DOID:10538 Ca fundus - stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer DOID:10538 gastric fundus cancer DOID:10538 gastric fundus cancer DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of fundus of stomach DOID:10538 gastric fundus cancer ICD9CM:151.3, DOID:10538, MONDO:patterns/cancer malignant neoplasm of fundus of stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of fundus of stomach DOID:10538 gastric fundus cancer DOID:10538 malignant tumor of fundus of stomach DOID:10538 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach DOID:5517 stomach carcinoma NCIT:C4911, DOID:5517 cancer of the stomach DOID:5517 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma MONDO:patterns/cancer cancer of fundus of stomach DOID:6700 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's sarcoma DOID:8567 Hodgkin's lymphoma DOID:8567, ICD9CM:201.2 Hodgkin's sarcoma DOID:8567 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage I subdiaphragmatic Hodgkin lymphoma stage I subdiaphragmatic Hodgkin lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma NCIT:C5012, DOID:8567 stage I subdiaphragmatic Hodgkin lymphoma DOID:8567 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage II subdiaphragmatic Hodgkin lymphoma stage II subdiaphragmatic Hodgkin lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma DOID:8567, NCIT:C5010 stage II subdiaphragmatic Hodgkin lymphoma DOID:8567 @@ -1031,13 +870,7 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oio:hasRel MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion DOID:4029 gastritis DOID:4029 acute gastric mucosal erosion DOID:4029 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastritis erosive gastritis Erosive Gastritis DOID:4029 gastritis DOID:4029 erosive gastritis DOID:4029 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastropathy erosive gastropathy Erosive gastropathy DOID:4029 gastritis DOID:4029 erosive gastropathy DOID:4029 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia DOID:1037 lymphoid leukemia NCIT:C3167 lymphoblastic leukemia DOID:1037 -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukaemia DOID:1037 lymphoid leukemia http://purl.obolibrary.org/obo/OMO_0003005 lymphoblastic leukaemia DOID:1037 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma DOID:4866 salivary gland adenoid cystic carcinoma GARD:0005743 cylindroma DOID:4866 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma DOID:5675 cribriform carcinoma GARD:0005743 cribriform carcinoma DOID:5675 MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym acinar cell adenoma DOID:657 adenoma DOID:657 acinar cell adenoma DOID:657 -MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma DOID:0050771 pheochromocytoma NCIT:C3326 pheochromocytoma DOID:0050771 -MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym exercise-induced asthma DOID:0080821 exercise-induced bronchoconstriction DOID:2841 exercise-induced asthma DOID:0080821 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma DOID:2841 asthma DOID:2841 chronic obstructive asthma DOID:2841 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with acute exacerbation DOID:2841 asthma DOID:2841 chronic obstructive asthma with acute exacerbation DOID:2841 MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with status asthmaticus DOID:2841 asthma DOID:2841 chronic obstructive asthma with status asthmaticus DOID:2841 @@ -1049,10 +882,7 @@ MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic de MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive disorder DOID:3312 bipolar disorder NCIT:C34423, DOID:3312 manic depressive disorder DOID:3312 MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic disorder DOID:3312 bipolar disorder DOID:3312 manic disorder DOID:3312 MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym mixed bipolar disorder DOID:3312 bipolar disorder DOID:3312 mixed bipolar disorder DOID:3312 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 bladder cancer DOID:11054 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym urinary bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 urinary bladder cancer DOID:11054 MONDO:0004988 breast adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of breast DOID:3458 breast adenocarcinoma DOID:3458, NCIT:C5214 adenocarcinoma of breast DOID:3458 -MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer DOID:1612 breast cancer NCIT:C4872 breast cancer DOID:1612 MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym breast tumor luminal DOID:0060548 luminal breast carcinoma A DOID:0060548 breast tumor luminal DOID:0060548 MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym luminal breast cancer DOID:0060548 luminal breast carcinoma A DOID:0060548 luminal breast cancer DOID:0060548 MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym bronchiolo-alveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 @@ -1062,10 +892,8 @@ MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynony MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468, NCIT:C3766 mesonephroid clear cell carcinoma DOID:4468 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant DOID:4468 clear cell adenocarcinoma DOID:4468 mesonephroma, malignant DOID:4468 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym water-clear cell carcinoma water-clear cell carcinoma Water-clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468 water-clear cell carcinoma DOID:4468 -MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 hypernephroma DOID:4450 MONDO:0005010 coronary artery disorder oio:hasExactSynonym oio:hasNarrowSynonym coronary arteriosclerosis DOID:3393 coronary artery disease DOID:3393 coronary arteriosclerosis DOID:3393 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy DOID:12930 dilated cardiomyopathy DOID:12930 primary dilated cardiomyopathy DOID:12930 -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma MONDO:patterns/location thyroid gland adenocarcinoma DOID:0080524 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular adenocarcinoma DOID:3962 follicular thyroid carcinoma NCIT:C8054 follicular adenocarcinoma DOID:3962 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated DOID:3962 follicular thyroid carcinoma DOID:3962 follicular adenocarcinoma, well differentiated DOID:3962 MONDO:0005040 germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym germ cell cancer DOID:2994 germ cell cancer DOID:2994 germ cell cancer DOID:2994 @@ -1073,7 +901,6 @@ MONDO:0005040 germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym germ cel MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension DOID:10763 hypertension DOID:10763 hypertension DOID:10763 MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN DOID:10763 hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 HTN DOID:10763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005044 hypertensive disorder oio:hasRelatedSynonym oio:hasExactSynonym hypertensive disease DOID:10763 hypertension MTH:NOCODE, DOID:10763 hypertensive disease DOID:10763 -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy DOID:0080326 familial hypertrophic cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy DOID:0080326 MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility DOID:5223 infertility DOID:5223 infertility DOID:5223 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma DOID:3457 lobular carcinoma DOID:3457 MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma DOID:3457 lobular carcinoma of the breast DOID:3457 @@ -1117,15 +944,11 @@ MONDO:0005076 periodontitis oio:hasExactSynonym oio:hasRelatedSynonym periodonto MONDO:0005077 pertussis oio:hasExactSynonym oio:hasBroadSynonym Bordetella infection Bordetella infection bordetella infection DOID:1116 pertussis DOID:1116 Bordetella infection DOID:1116 MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 toxaemia of pregnancy DOID:10591 MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton DOID:1115 sarcoma NCIT:C3810, DOID:1115 tumor of soft tissue and skeleton DOID:1115 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 DOID:0070088 schizophrenia 12 OMIM:genemap2, OMIM:181500 schizophrenia 12 DOID:0070088 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:181500 schizoaffective disorder DOID:5418 MONDO:0005093 skin disorder oio:hasExactSynonym oio:hasNarrowSynonym genodermatosis genodermatosis Genodermatosis DOID:37 skin disease DOID:37 genodermatosis DOID:37 MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma DOID:264 malignant hemangiopericytoma DOID:264 MONDO:0005097 squamous cell lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma DOID:3907, NCIT:C3493 squamous cell carcinoma of lung DOID:3907 MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma DOID:418 systemic scleroderma DOID:418 Scleroderma DOID:418 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Scleroderma scleroderma DOID:419 scleroderma DOID:418 Scleroderma DOID:419 MONDO:0005101 ulcerative colitis oio:hasExactSynonym oio:hasNarrowSynonym left-sided ulcerative colitis left-sided ulcerative colitis Left-sided ulcerative colitis DOID:8577 ulcerative colitis DOID:8577 left-sided ulcerative colitis DOID:8577 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3153 lipomatosis DOID:3315 multiple lipomatosis DOID:3153 MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous neoplasm DOID:3315 lipoma DOID:3315 lipomatous neoplasm DOID:3315 MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous tumor DOID:3315 lipoma NCIT:C4248, DOID:3315 lipomatous tumor DOID:3315 MONDO:0005106 lipoma oio:hasRelatedSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3315 lipoma DOID:3315 multiple lipomatosis DOID:3315 @@ -1134,41 +957,27 @@ MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple' MONDO:0005118 human granulocytic ehrlichiosis oio:hasRelatedSynonym oio:hasBroadSynonym HGE DOID:0050025 human granulocytic anaplasmosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000071, DOID:0050025 HGE DOID:0050025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005119 anthrax infection oio:hasExactSynonym oio:hasRelatedSynonym anthrax disease DOID:7427 anthrax disease DOID:7427 anthrax disease DOID:7427 MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix DOID:2893 cervix carcinoma DOID:2893, NCIT:C9039 cancer of cervix DOID:2893 -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervical cancer DOID:4362 cervical cancer NCIT:C9039 cervical cancer DOID:4362 -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervix cancer DOID:4362 cervical cancer NCIT:C9039 cervix cancer DOID:4362 MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym ectoparasitic disease ectoparasitic disease Ectoparasitic disease DOID:1398 parasitic infectious disease DOID:1398 ectoparasitic disease DOID:1398 MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym parasitemia DOID:1398 parasitic infectious disease DOID:1398 parasitemia DOID:1398 MONDO:0005137 nutritional disorder oio:hasExactSynonym oio:hasRelatedSynonym nutrition disease DOID:374 nutrition disease DOID:374 nutrition disease DOID:374 -MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer DOID:1324 lung cancer NCIT:C4878 lung cancer DOID:1324 MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of lung DOID:3905 lung carcinoma NCIT:C4878, DOID:3905 cancer of lung DOID:3905 MONDO:0005138 lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of lung DOID:3905 lung carcinoma MONDO:patterns/carcinoma, NCIT:C4878, DOID:3905 carcinoma of lung DOID:3905 -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer DOID:2394 ovarian cancer NCIT:C4908 ovarian cancer DOID:2394 -MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis DOID:6950 combat disorder NCIT:C3389 combat neurosis DOID:6950 MONDO:0005150 age-related macular degeneration oio:hasExactSynonym oio:hasRelatedSynonym age related macular degeneration DOID:10871 age related macular degeneration DOID:10871 age related macular degeneration DOID:10871 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis DOID:5082 liver cirrhosis DOID:5082 liver cirrhosis DOID:5082 -MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer DOID:10283 prostate cancer NCIT:C4863 prostate cancer DOID:10283 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate DOID:10286 prostate carcinoma NCIT:C4863 cancer of prostate DOID:10286 MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic tumor DOID:3355 fibrosarcoma DOID:3355, NCIT:C7075 fibrocytic tumor DOID:3355 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cell type benign neoplasm DOID:0060084 cell type benign neoplasm DOID:0060084 cell type benign neoplasm DOID:0060084 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym organ system benign neoplasm DOID:0060085 organ system benign neoplasm DOID:0060085 organ system benign neoplasm DOID:0060085 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis DOID:8866 actinic keratosis DOID:8866 Senile hyperkeratosis DOID:8866 MONDO:0005181 progressive external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym chronic progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 -MONDO:0005192 exocrine pancreatic carcinoma oio:hasExactSynonym oio:hasBroadSynonym pancreatic cancer DOID:1793 pancreatic cancer NCIT:C3850 pancreatic cancer DOID:1793 MONDO:0005192 exocrine pancreatic carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym exocrine cancer DOID:4905 pancreatic carcinoma DOID:4905, NCIT:C3850 exocrine cancer DOID:4905 MONDO:0005201 restrictive cardiomyopathy oio:hasRelatedSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy DOID:397 restrictive cardiomyopathy DOID:397 familial restrictive cardiomyopathy DOID:397 -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym kidney cancer DOID:263 kidney cancer NCIT:C9384 kidney cancer DOID:263 -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cancer DOID:263 kidney cancer NCIT:C9384 renal cancer DOID:263 -MONDO:0005215 vulvar carcinoma oio:hasExactSynonym oio:hasBroadSynonym vulva cancer DOID:1245 vulva cancer NCIT:C4866 vulva cancer DOID:1245 MONDO:0005215 vulvar carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of vulva DOID:1294 vulva carcinoma NCIT:C4866, DOID:1294 carcinoma of vulva DOID:1294 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma DOID:0070475 MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma DOID:4464 MONDO:0005229 bacterial infectious disease with sepsis oio:hasExactSynonym oio:hasRelatedSynonym bacterial sepsis DOID:0040085 bacterial sepsis DOID:0040085 bacterial sepsis DOID:0040085 MONDO:0005231 hepatitis C virus infection oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis C DOID:1883 hepatitis C DOID:1883 chronic hepatitis C DOID:1883 MONDO:0005240 kidney disorder oio:hasExactSynonym oio:hasRelatedSynonym nephropathy DOID:557 kidney disease DOID:557 nephropathy DOID:557 -MONDO:0005244 peripheral neuropathy oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy DOID:574 peripheral nervous system disease https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20, DOID:870 peripheral neuropathy DOID:574 MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia DOID:552 pneumonia DOID:552 acute pneumonia DOID:552 -MONDO:0005258 autism spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym atypical autism DOID:0060042 atypical autism DOID:0060042 atypical autism DOID:0060042 -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder DOID:0060041 autism spectrum disorder OMIM:209850 autism spectrum disorder DOID:0060041 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder DOID:12849 autistic disorder OMIM:209850 autistic disorder DOID:12849 MONDO:0005264 transient ischemic attack oio:hasExactSynonym oio:hasRelatedSynonym transient cerebral ischemia DOID:224 transient cerebral ischemia DOID:224 transient cerebral ischemia DOID:224 MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym allergic hypersensitivity disease DOID:1205 allergic disease DOID:1205 allergic hypersensitivity disease DOID:1205 @@ -1176,7 +985,6 @@ MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hyperse MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 serous carcinoma DOID:3114 MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 MONDO:0005291 brain aneurysm oio:hasExactSynonym oio:hasRelatedSynonym intracranial aneurysm DOID:10941 intracranial aneurysm DOID:10941 intracranial aneurysm DOID:10941 -MONDO:0005296 sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym mixed sleep apnea DOID:0080302 mixed sleep apnea MESH:D012891 mixed sleep apnea DOID:0080302 MONDO:0005297 urethritis oio:hasExactSynonym oio:hasNarrowSynonym Nongonococcal urethritis DOID:1343 urethritis DOID:1343 Nongonococcal urethritis DOID:1343 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym chronic renal failure syndrome DOID:784 chronic kidney disease DOID:784 chronic renal failure syndrome DOID:784 MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis DOID:2377 multiple sclerosis DOID:2377 generalized multiple sclerosis DOID:2377 @@ -1195,15 +1003,12 @@ MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' d MONDO:0005371 mood disorder oio:hasExactSynonym oio:hasNarrowSynonym episodic mood disorder DOID:3324 mood disorder episodic mood disorder DOID:3324 MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym bone marrow cancer DOID:4960 bone marrow cancer DOID:4960 bone marrow cancer DOID:4960 MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor malignant bone Marrow tumor DOID:4960 bone marrow cancer DOID:4960 malignant bone marrow tumor DOID:4960 -MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis DOID:2527 nephrosis NCIT:C34845 nephrosis DOID:2527 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym depressive neurosis DOID:4964 neurotic disorder DOID:4964, MTH:NOCODE depressive neurosis DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression DOID:4964 neurotic disorder DOID:4964 neurotic depression DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression reactive type neurotic depression reactive type Neurotic depression reactive type DOID:4964 neurotic disorder DOID:4964 neurotic depression reactive type DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depressive state neurotic depressive state Neurotic depressive state DOID:4964 neurotic disorder DOID:4964 neurotic depressive state DOID:4964 MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym reactive depression DOID:4964 neurotic disorder DOID:4964 reactive depression DOID:4964 -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease DOID:3443 mammary Paget's disease NCIT:C3292 Paget's disease DOID:3443 MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease DOID:0050830 peripheral artery disease DOID:0050830 peripheral artery disease DOID:0050830 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause DOID:10787 premature menopause DOID:5426 premature menopause DOID:10787 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism DOID:5426 primary ovarian insufficiency DOID:5426 hypergonadotropic hypogonadism DOID:5426 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency MESH:D016649, Orphanet:619 premature ovarian failure DOID:5426 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian insufficiency DOID:5426 primary ovarian insufficiency DOID:5426 premature ovarian insufficiency DOID:5426 @@ -1223,8 +1028,6 @@ MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium endometrioid carcinoma of Endometrium DOID:2870 endometrial adenocarcinoma NCIT:C6287, DOID:2870 endometrioid carcinoma of endometrium DOID:2870 MONDO:0005480 contact dermatitis oio:hasExactSynonym oio:hasNarrowSynonym contact eczema contact eczema Contact eczema DOID:2773 contact dermatitis DOID:2773 contact eczema DOID:2773 MONDO:0005485 psychotic disorder oio:hasExactSynonym oio:hasBroadSynonym mental or behavioural disorder DOID:2468 psychotic disorder http://purl.obolibrary.org/obo/OMO_0003005 mental or behavioural disorder DOID:2468 -MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer NCIT:C27814 bile duct cancer DOID:4606 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism DOID:0050352 foodborne botulism DOID:11976 foodborne botulism DOID:0050352 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym food poisoning due to Clostridium botulinum food poisoning due to Clostridium botulinum Food poisoning due to Clostridium botulinum DOID:11976 botulism DOID:11976 food poisoning due to Clostridium botulinum DOID:11976 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism DOID:11976 botulism DOID:11976 foodborne botulism DOID:11976 MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin Intoxication with Clostridium botulinum toxin DOID:11976 botulism DOID:11976 intoxication with Clostridium botulinum toxin DOID:11976 @@ -1244,13 +1047,10 @@ MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym mal MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm malignant renal Pelvis neoplasm DOID:4919 renal pelvis carcinoma DOID:4919, MONDO:patterns/cancer, NCIT:C7525 malignant renal pelvis neoplasm DOID:4919 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer DOID:4919 renal pelvis carcinoma MONDO:patterns/location, DOID:4919 renal pelvis cancer DOID:4919 MONDO:0005520 rickets oio:hasExactSynonym oio:hasRelatedSynonym active rickets DOID:10609 rickets DOID:10609 active rickets DOID:10609 -MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer DOID:10154 small intestine cancer NCIT:C7724 small intestine cancer DOID:10154 MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym cancer of the small bowel DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 cancer of the small bowel DOID:4907 MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym small bowel cancer DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 small bowel cancer DOID:4907 MONDO:0005528 inborn vitamin metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym vitamin metabolic disorder DOID:0050718 vitamin metabolic disorder DOID:0050718 vitamin metabolic disorder DOID:0050718 MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasRelatedSynonym disease by infectious agent DOID:0050117 disease by infectious agent DOID:0050117 disease by infectious agent DOID:0050117 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym enthesopathy DOID:204 enthesopathy MESH:D012216 enthesopathy DOID:204 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease DOID:65 connective tissue disease NCIT:C27204 connective tissue disease DOID:65 MONDO:0005557 calcium metabolic disease oio:hasExactSynonym oio:hasRelatedSynonym calcium metabolism disease DOID:10575 calcium metabolism disease DOID:10575 calcium metabolism disease DOID:10575 MONDO:0005559 neurodegenerative disease oio:hasExactSynonym oio:hasBroadSynonym degenerative disease DOID:1289 neurodegenerative disease DOID:1289 degenerative disease DOID:1289 MONDO:0005560 brain disorder oio:hasExactSynonym oio:hasNarrowSynonym encephalopathy DOID:936 brain disease DOID:936, NCIT:C26920 encephalopathy DOID:936 @@ -1259,11 +1059,9 @@ MONDO:0005567 substance withdrawal syndrome oio:hasExactSynonym oio:hasRelatedSy MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym purple toe syndrome DOID:1461 cholesterol embolism DOID:1461 purple toe syndrome DOID:1461 MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym trash foot DOID:1461 cholesterol embolism DOID:1461 trash foot DOID:1461 MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism DOID:1461 warfarin blue toe syndrome DOID:1461 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer DOID:219 colon cancer OMIM:114500 colon cancer DOID:219 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer DOID:5672 large intestine cancer DOID:5672 large intestine cancer DOID:5672 MONDO:0005578 arthritic joint disease oio:hasExactSynonym oio:hasNarrowSynonym inflammatory disorder of joint inflammatory disorder of joint Inflammatory disorder of joint DOID:848 arthritis DOID:848 inflammatory disorder of joint DOID:848 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma DOID:3007 breast ductal carcinoma NCIT:C4017 duct carcinoma DOID:3007 -MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma DOID:3008 invasive ductal carcinoma NCIT:C4017 ductal adenocarcinoma DOID:3008 MONDO:0005614 pancreatic adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of the pancreas DOID:5637 pancreatic adenosquamous carcinoma NCIT:C5721, DOID:5637 adenosquamous carcinoma of the pancreas DOID:5637 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma - solitary myeloma - solitary Myeloma - solitary DOID:3721 plasmacytoma DOID:3721 myeloma - solitary DOID:3721 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma, solitary myeloma, solitary Myeloma, solitary DOID:3721 plasmacytoma DOID:3721 myeloma, solitary DOID:3721 @@ -1278,7 +1076,6 @@ MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute append MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with generalized peritonitis DOID:8337 appendicitis DOID:8337 acute appendicitis with generalized peritonitis DOID:8337 MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with peritoneal abscess DOID:8337 appendicitis DOID:8337 acute appendicitis with peritoneal abscess DOID:8337 MONDO:0005664 bartonellosis oio:hasExactSynonym oio:hasRelatedSynonym Rochalimaea infection DOID:11102 bartonellosis MESH:D001474 Rochalimaea infection DOID:11102 -MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy DOID:13934 facial paralysis NCIT:C26769 facial palsy DOID:13934 MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym poultry worker's lung DOID:13891 bird fancier's lung DOID:13891 poultry worker's lung DOID:13891 MONDO:0005690 Caplan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Caplan's syndrome DOID:10326 Caplan's syndrome DOID:10326 Caplan's syndrome DOID:10326 MONDO:0005694 cecal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cecal benign neoplasm DOID:1517 cecal benign neoplasm DOID:1517 cecal benign neoplasm DOID:1517 @@ -1291,10 +1088,6 @@ MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym hydatidosi MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym pulmonary echinococcosis DOID:1496 echinococcosis DOID:1496 pulmonary echinococcosis DOID:1496 MONDO:0005744 yolk sac tumor oio:hasExactSynonym oio:hasNarrowSynonym infantile embryonal carcinoma DOID:1911 endodermal sinus tumor DOID:1911 infantile embryonal carcinoma DOID:1911 MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym oio:hasBroadSynonym Madura foot DOID:13078 eumycotic mycetoma ICD9CM:039.4, DOID:13078 Madura foot DOID:13078 -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis Elephantiasis elephantiasis DOID:4976 elephantiasis NORD:1082 Elephantiasis DOID:4976 -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis DOID:4976 elephantiasis NCIT:C128360, GARD:0003321 elephantiasis DOID:4976 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma NCIT:C9281, DOID:6262 follicular Dendritic cell sarcoma DOID:7849 -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma MONDO:patterns/location follicular dendritic cell sarcoma DOID:7849 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type 2 DOID:9210 herpes zoster oticus DOID:9210 Ramsay Hunt syndrome type 2 DOID:9210 MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type II DOID:9210 herpes zoster oticus DOID:9210 Ramsay Hunt syndrome type II DOID:9210 MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasNarrowSynonym Puumala virus nephropathy DOID:11266 Hantavirus hemorrhagic fever with renal syndrome DOID:11266 Puumala virus nephropathy DOID:11266 @@ -1348,11 +1141,9 @@ MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym spleen neopl MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic neoplasm DOID:672 spleen cancer DOID:672, NCIT:C3383 splenic neoplasm DOID:672 MONDO:0005972 streptococcal pneumonia oio:hasExactSynonym oio:hasRelatedSynonym Streptococcus pneumonia DOID:0040084 Streptococcus pneumonia DOID:0040084 Streptococcus pneumonia DOID:0040084 MONDO:0005993 Trichomonas vaginitis urogenital infection oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas vaginalis trichomoniasis DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C61574 endometrial cancer DOID:1380 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma DOID:3737 verrucous carcinoma DOID:3737 warty carcinoma DOID:3737 MONDO:0006011 viral hepatitis oio:hasExactSynonym oio:hasNarrowSynonym viral hepatitis with hepatic coma viral hepatitis with hepatic coma Viral hepatitis with hepatic coma DOID:1884 viral hepatitis DOID:1884 viral hepatitis with hepatic coma DOID:1884 MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal cancer DOID:1519 cecum carcinoma NCIT:C3491, DOID:1519 cecal cancer DOID:1519 -MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecum cancer DOID:1521 cecum cancer NCIT:C3491 cecum cancer DOID:1521 MONDO:0006043 metaplastic breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast metaplastic carcinoma DOID:4680 breast metaplastic carcinoma DOID:4680 breast metaplastic carcinoma DOID:4680 MONDO:0006043 metaplastic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma NCIT:C5164, DOID:4680 metaplastic carcinoma of breast DOID:4680 MONDO:0006047 pancreatic adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma NCIT:C8294, DOID:4074 adenocarcinoma of the pancreas DOID:4074 @@ -1367,7 +1158,6 @@ MONDO:0006187 duodenal villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0006189 eccrine porocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine porocarcinoma of skin eccrine porocarcinoma of skin Eccrine porocarcinoma of skin DOID:7566 eccrine porocarcinoma GARD:0007431 eccrine porocarcinoma of skin DOID:7566 MONDO:0006196 endometrial serous adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym uterine serous carcinoma DOID:5750 endometrial serous adenocarcinoma NCIT:C27838, DOID:5750 uterine serous carcinoma DOID:5750 MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fallopian tube DOID:1963 fallopian tube carcinoma NCIT:C3867, DOID:1963 cancer of the fallopian tube DOID:1963 -MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym fallopian tube cancer DOID:1964 fallopian tube cancer NCIT:C3867 fallopian tube cancer DOID:1964 MONDO:0006217 gallbladder adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma NCIT:C7356, DOID:5627 adenosquamous carcinoma of gallbladder DOID:5627 MONDO:0006220 gallbladder squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma NCIT:C9170, DOID:5535 squamous cell carcinoma of the gallbladder DOID:5535 MONDO:0006235 granular cell tumor oio:hasExactSynonym oio:hasNarrowSynonym neoplasm of granular cell DOID:2411 granular cell tumor DOID:2411, NCIT:C3474 neoplasm of granular cell DOID:2411 @@ -1392,14 +1182,10 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasRelatedSynonym MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma DOID:369 olfactory neuroblastoma NCIT:C3789 Esthesioneuroepithelioma DOID:369 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma DOID:369 olfactory neuroblastoma NCIT:C3789 esthesioneuroblastoma DOID:369 MONDO:0006335 ovarian endometrioid adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma DOID:5828, NCIT:C7979 endometrioid carcinoma of ovary DOID:5828 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:OYST yolk sac tumor DOID:1911 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 yolk sac tumour DOID:1911 -MONDO:0006360 penile carcinoma oio:hasExactSynonym oio:hasBroadSynonym penile cancer DOID:11615 penile cancer NCIT:C9061 penile cancer DOID:11615 MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic adenoma carcinoma DOID:297 pleomorphic adenoma carcinoma DOID:297 pleomorphic adenoma carcinoma DOID:297 MONDO:0006446 testicular embryonal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma DOID:5680, NCIT:C6341 embryonal carcinoma of the testis DOID:5680 MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor DOID:2671 transitional cell carcinoma NCIT:C6783, DOID:2671 transitional cell tumor DOID:2671 MONDO:0006474 transitional cell carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym transitional cell neoplasm DOID:2671 transitional cell carcinoma DOID:2671 transitional cell neoplasm DOID:2671 -MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer DOID:11819 ureter cancer NCIT:C8993 ureter cancer DOID:11819 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 vaginal carcinosarcoma DOID:136 malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed Mullerian tumor DOID:136 vaginal carcinosarcoma DOID:136 vaginal malignant mixed Mullerian tumor DOID:136 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (mullerian) tumor DOID:136 vaginal carcinosarcoma NCIT:C40278 vaginal malignant mixed mesodermal (Mullerian) tumor DOID:136 @@ -1413,10 +1199,7 @@ MONDO:0006522 acquired keratosis oio:hasExactSynonym oio:hasRelatedSynonym acqui MONDO:0006540 dyshidrosis oio:hasExactSynonym oio:hasRelatedSynonym pompholyx DOID:9230 pompholyx DOID:9230 pompholyx DOID:9230 MONDO:0006558 pemphigoid gestationis oio:hasExactSynonym oio:hasRelatedSynonym pemphigus gestationis DOID:0040098 pemphigus gestationis DOID:0040098 pemphigus gestationis DOID:0040098 MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym oio:hasNarrowSynonym acne inversa, familial acne inversa, familial Acne inversa, familial DOID:2280 hidradenitis suppurativa DOID:2280 acne inversa, familial DOID:2280 -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina DOID:0070321 miliaria crystallina DOID:11153 miliaria crystallina DOID:0070321 MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym oio:hasRelatedSynonym pityriasis capitis pityriasis capitis Pityriasis capitis DOID:8941 seborrheic infantile dermatitis DOID:8941 pityriasis capitis DOID:8941 -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasRelatedSynonym bullous skin disease DOID:8502 bullous skin disease MESH:D012872 bullous skin disease DOID:8502 -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasNarrowSynonym subcorneal pustular dermatosis DOID:8508 subcorneal pustular dermatosis MESH:D012872 subcorneal pustular dermatosis DOID:8508 MONDO:0006633 acalculous cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute acalculous cholecystitis DOID:2828 acalculous cholecystitis DOID:2828 acute acalculous cholecystitis DOID:2828 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer DOID:660 adrenal cortex cancer NCIT:C9325 adrenal cortex cancer DOID:660 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortical tumors adrenal cortical tumors Adrenal cortical tumors DOID:660 adrenal cortex cancer DOID:660 adrenal cortical tumors DOID:660 @@ -1426,8 +1209,6 @@ MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym m MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 Laennec's cirrhosis DOID:14018 MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis, alcoholic DOID:14018 alcoholic liver cirrhosis DOID:14018 Laennec's cirrhosis, alcoholic DOID:14018 MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym portal cirrhosis portal cirrhosis Portal cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 portal cirrhosis DOID:14018 -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis DOID:9383 iridocyclitis Orphanet:280886 iridocyclitis DOID:9383 -MONDO:0006652 anterolateral myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym anteroseptal myocardial infarction DOID:5855 anteroseptal myocardial infarction MESH:D056988 anteroseptal myocardial infarction DOID:5855 MONDO:0006673 pituitary gland basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym basophil adenoma DOID:4542 basophil adenoma DOID:4542 basophil adenoma DOID:4542 MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm DOID:12759 choroid cancer DOID:12759 choroid neoplasm DOID:12759 MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal tumor DOID:12759 choroid cancer NCIT:C2949, DOID:12759 choroidal tumor DOID:12759 @@ -1435,12 +1216,9 @@ MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedS MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic fibroma pleomorphic fibroma Pleomorphic fibroma DOID:4418 cutaneous fibrous histiocytoma DOID:4418 pleomorphic fibroma DOID:4418 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym duodenal benign neoplasm DOID:1737 duodenal benign neoplasm DOID:1737 duodenal benign neoplasm DOID:1737 MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum DOID:1737 duodenal benign neoplasm NCIT:C2995, DOID:1737 neoplasm of the duodenum DOID:1737 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma DOID:3896 hidradenoma MESH:D018250, GARD:0005726 hidradenoma DOID:3896 MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome DOID:11512 -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma DOID:2634 cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ cystadenoma DOID:2634 MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym apocrine cystadenoma DOID:3893 hidrocystoma DOID:3893 apocrine cystadenoma DOID:3893 MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine cystadenoma eccrine cystadenoma Eccrine Cystadenoma DOID:3893 hidrocystoma DOID:3893 eccrine cystadenoma DOID:3893 -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis DOID:12731 pars planitis NCIT:C35110 pars planitis DOID:12731 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the ankle and foot DOID:381 arthropathy DOID:381 Joint ankylosis of the ankle and foot DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the forearm DOID:381 arthropathy DOID:381 Joint ankylosis of the forearm DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the hand DOID:381 arthropathy DOID:381 Joint ankylosis of the hand DOID:381 @@ -1458,39 +1236,30 @@ MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of multiple joints ankylosis of multiple joints Ankylosis of multiple joints DOID:381 arthropathy DOID:381 ankylosis of multiple joints DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of upper arm joint DOID:381 arthropathy DOID:381 ankylosis of upper arm joint DOID:381 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym infectious arthropathy infectious arthropathy Infectious arthropathy DOID:381 arthropathy DOID:381 infectious arthropathy DOID:381 -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism NCIT:C34752 hypogonadotropic hypogonadism DOID:0090070 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome NCIT:C34752 hypogonadotropic hypogonadism DOID:1921 -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome DOID:13095 vertebral artery insufficiency GARD:0009263 Vertebral artery syndrome DOID:13095 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome lateral medullary syndrome DOID:3522 lateral medullary syndrome GARD:0009263 Lateral medullary syndrome DOID:3522 MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasExactSynonym oio:hasRelatedSynonym lethal midline granuloma DOID:9072 lethal midline granuloma DOID:9072 lethal midline granuloma DOID:9072 MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change glomerulonephritis nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 lipoid nephrosis ICD9CM:581.3, DOID:10966 nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change nephrotic syndrome nephrotic syndrome with lesion of minimal change nephrotic syndrome Nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 lipoid nephrosis DOID:10966 nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma DOID:8683 myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma DOID:8683 -MONDO:0006879 optic papillitis oio:hasExactSynonym oio:hasRelatedSynonym retinal edema DOID:6929 retinal edema MESH:D010211 retinal edema DOID:6929 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's syndrome DOID:8007 Pancoast tumor DOID:8007 Pancoast's syndrome DOID:8007 MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pulmonary sulcus tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 pulmonary sulcus tumour DOID:8007 MONDO:0006890 parathyroid gland adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of parathyroid DOID:7608 parathyroid adenoma DOID:7608, NCIT:C3916 adenoma of parathyroid DOID:7608 MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor malignant Sebaceous tumor DOID:4840 sebaceous carcinoma DOID:4840, NCIT:C8409 malignant sebaceous tumor DOID:4840 MONDO:0006972 silo filler disease oio:hasExactSynonym oio:hasRelatedSynonym silo filler's disease silo filler's disease Silo filler's disease DOID:4374 Silo filler's disease DOID:4374 silo filler's disease DOID:4374 MONDO:0007004 type III hypersensitivity disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity reaction type III disease DOID:1557 hypersensitivity reaction type III disease DOID:1557 hypersensitivity reaction type III disease DOID:1557 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog Syndrome Aarskog Syndrome Aarskog syndrome DOID:0111824 Aarskog syndrome NORD:702 Aarskog Syndrome DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome DOID:6683 Aarskog syndrome DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome DOID:6683 faciogenital dysplasia DOID:0111824 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome DOID:6683 Aarskog-Scott syndrome DOID:6683 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder DOID:10865 abducens nerve palsy NCIT:C27593, DOID:10865 VIth nerve disorder DOID:10865 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease DOID:10865 abducens nerve palsy DOID:10865 abducens nerve disease DOID:10865 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens palsy DOID:10865 abducens nerve palsy OMIM:100200 abducens palsy DOID:10865 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis NCIT:C3274 acoustic neurofibromatosis DOID:0111252 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type II DOID:0111252 vestibular schwannomatosis GARD:0007193 neurofibromatosis type II DOID:0111252 MONDO:0007040 Sakati-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sakati syndrome DOID:0060359 Sakati-Nyhan syndrome GARD:0000115 Sakati syndrome DOID:0060359 -MONDO:0007047 punctate palmoplantar keratoderma type III oio:hasExactSynonym oio:hasRelatedSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000133 TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym pituitary adenoma 1, multiple types DOID:0112009 pituitary adenoma 1 OMIM:102200 pituitary adenoma 1, multiple types DOID:0112009 MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym PITA1 DOID:0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102200 PITA1 DOID:0112009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Acromicric skeletal dysplasia Acromicric skeletal dysplasia acromicric skeletal dysplasia DOID:0111243 acromicric dysplasia GARD:0000007 Acromicric skeletal dysplasia DOID:0111243 MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ACMICD DOID:0111243 acromicric dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102370, MONDO:Lexical ACMICD DOID:0111243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007057 Acroosteolysis dominant type oio:hasExactSynonym oio:hasRelatedSynonym HJCYS DOID:2736 Hajdu-Cheney syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102500, MONDO:Lexical HJCYS DOID:2736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym SPGF6 DOID:0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:102530 SPGF6 DOID:0070167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 OMIM:102530 globozoospermia DOID:0111156 MONDO:0007068 adenylosuccinate lyase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adenylosuccinase lyase deficiency DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-tooth syndrome DOID:0050601 ADULT syndrome OMIM:103285 acro-dermato-ungual-lacrimal-Tooth syndrome DOID:0050601 MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I DOID:14080 glucocorticoid-remediable aldosteronism Orphanet:403 familial hyperaldosteronism type I DOID:14080 @@ -1498,27 +1267,20 @@ MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:ha MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100 keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100, MONDO:Lexical palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym PPKCA1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:104100 PPKCA1 DOID:0111244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007088 Alzheimer disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease DOID:10652 Alzheimer's disease OMIM:104300 Alzheimer disease DOID:10652 MONDO:0007092 amelogenesis imperfecta type 1B oio:hasExactSynonym oio:hasRelatedSynonym AIH2 DOID:0110052 amelogenesis imperfecta type 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110052, OMIM:104500 AIH2 DOID:0110052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis DOID:0050637 Finnish type amyloidosis Orphanet:85448 AGel amyloidosis DOID:0050637 MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, Meretoja type amyloidosis, Meretoja type AMYLOIDOSIS, MERETOJA TYPE DOID:0050637 Finnish type amyloidosis OMIM:105120 amyloidosis, Meretoja type DOID:0050637 MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym CST3-related cerebral amyloid angiopathy DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy DOID:9246 cerebral amyloid angiopathy OMIM:105150, OMIM:genemap2 cerebral amyloid angiopathy DOID:9246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 DOID:0111246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam DOID:0111246 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-PDC ALS-pDC ALS-PDC DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105500 ALS-PDC DOID:0111246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 DOID:0060213 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer DOID:0050688 anal canal cancer NCIT:C7489 anal canal cancer DOID:0050688 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma DOID:7173 cloacogenic carcinoma OMIM:105580 cloacogenic carcinoma DOID:7173 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III OMIM:105600 anemia with multinucleated erythroblasts DOID:0111399 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anaemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/OMO_0003005 anaemia with multinucleated erythroblasts DOID:0111399 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDAN3 DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105600, MONDO:Lexical CDAN3 DOID:0111399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 DOID:0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 DOID:0111895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome DOID:4297 scimitar syndrome DOID:4297 scimitar syndrome DOID:4297 -MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 MONDO:Lexical, OMIM:107250 anterior segment mesenchymal dysgenesis DOID:0110122 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Uhl anomaly DOID:0110070 arrhythmogenic right ventricular dysplasia 1 OMIM:107970 Uhl anomaly DOID:0110070 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis OMIM:108120 arthrogryposis multiplex congenita DOID:0050646 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita OMIM:108120 arthrogryposis multiplex congenita DOID:0080954 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 distal arthrogryposis type 5 Orphanet:1154 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA5 DOID:0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108145, MONDO:Lexical DA5 DOID:0111608 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis and sensorineural deafness DOID:0111609 distal arthrogryposis type 6 OMIM:108200 arthrogryposis and sensorineural deafness DOID:0111609 @@ -1532,7 +1294,6 @@ MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's MONDO:0007191 Behcet disease oio:hasRelatedSynonym oio:hasExactSynonym Behcet's syndrome DOID:13241 Behcet's disease doi:10.1093/jama/9780195176339.003.0016, ICD9CM:136.1, MONDO:LexicalVariant, DOID:13241 Behcet's syndrome DOID:13241 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 biliary cirrhosis, primary, 1 BILIARY CIRRHOSIS, PRIMARY, 1 DOID:0070358 primary biliary cholangitis 1 OMIM:109720, MONDO:Lexical biliary cirrhosis, primary, 1 DOID:0070358 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 DOID:0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical PBC1 DOID:0070358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 DOID:0080333 aortic valve disease 1 OMIM:109730, MONDO:Lexical aortic valve disease 1 DOID:0080333 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome NORD:862 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome DOID:14778 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, epicanthus inversus syndrome blepharophimosis, ptosis, epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:Lexical, OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 @@ -1542,29 +1303,19 @@ MONDO:0007211 brachydactyly-arterial hypertension syndrome oio:hasExactSynonym o MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 brachydactyly type A6 OMIM:112910 Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome DOID:0110968 brachydactyly type A6 OMIM:112910 OSEBOLD-Remondini syndrome DOID:0110968 MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BOR1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113650 BOR1 DOID:0111423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Melnick-Fraser syndrome DOID:14702 branchiootorenal syndrome OMIM:113650 Melnick-Fraser syndrome DOID:14702 -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym branchiootorenal dysplasia DOID:14702 branchiootorenal syndrome OMIM:113650 branchiootorenal dysplasia DOID:14702 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma Bullous ichthyosiform erythroderma DOID:4603 epidermolytic hyperkeratosis OMIM:113800 bullous ichthyosiform erythroderma DOID:4603 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block type IA DOID:0111074 progressive familial heart block type IA DOID:0111074 progressive familial heart block type IA DOID:0111074 MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasNarrowSynonym acampomelic campomelic dysplasia acampomelic campomelic dysplasia Acampomelic Campomelic Dysplasia DOID:0050463 campomelic dysplasia OMIM:114290, DOID:0050463 acampomelic campomelic dysplasia DOID:0050463 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 CMPD DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007252 Gordon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA3 DOID:0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114300, MONDO:Lexical DA3 DOID:0111607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor DOID:1612 breast cancer NCIT:C2910, DOID:1612 breast tumor DOID:1612 MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym mammary tumor DOID:1612 breast cancer DOID:1612 mammary tumor DOID:1612 MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasNarrowSynonym primary breast cancer DOID:1612 breast cancer DOID:1612 primary breast cancer DOID:1612 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma DOID:0070328 adult hepatocellular carcinoma NCIT:C7956, DOID:684 adult hepatoma DOID:0070328 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma DOID:0070328 adult hepatocellular carcinoma DOID:684 adult primary hepatocellular carcinoma DOID:0070328 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer DOID:3571 liver cancer OMIM:114550 liver cancer DOID:3571 MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic bile duct carcinoma DOID:686 liver carcinoma NCIT:C7927, DOID:686 liver and intrahepatic bile duct carcinoma DOID:686 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma DOID:687 hepatoblastoma OMIM:114550 hepatoblastoma DOID:687 -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:115150 CFC syndrome DOID:0060233 -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 cardiofaciocutaneous syndrome DOID:0060233 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 DOID:0111460 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 CFC1 DOID:0111460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007270 cardiomyopathy, familial restrictive, 1 oio:hasExactSynonym oio:hasRelatedSynonym RCM1 DOID:0111425 restrictive cardiomyopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:115210, MONDO:Lexical RCM1 DOID:0111425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007289 cataract 13 with adult I phenotype oio:hasExactSynonym oio:hasRelatedSynonym cataract 13 with ADULT I phenotype cataract 13 with ADULT I phenotype cataract 13 with adult i phenotype DOID:0110242 cataract 13 with adult i phenotype OMIM:116700 cataract 13 with ADULT I phenotype DOID:0110242 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 immunodeficiency DOID:0110910 leukocyte adhesion deficiency 1 OMIM:116920 Lfa1 immunodeficiency DOID:0110910 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 DOID:0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 LAD1 DOID:0110910 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency DOID:6612 leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency DOID:6612 MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis cerebellar ataxia, cataract, deafness, and dementia or psychosis Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 OMIM:117300 cerebellar ataxia, cataract, deafness, and dementia or psychosis DOID:0070030 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCM syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 CCM syndrome DOID:0111248 @@ -1572,14 +1323,10 @@ MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelated MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebro-costo-mandibular syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 cerebro-costo-mandibular syndrome DOID:0111248 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym rib Gap defects with micrognathia rib Gap defects with micrognathia rib gap defects with micrognathia DOID:0111248 cerebrocostomandibular syndrome OMIM:117650 rib Gap defects with micrognathia DOID:0111248 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCMS DOID:0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:117650 CCMS DOID:0111248 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome NORD:1336 Klippel-Feil Syndrome DOID:10426 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 OMIM:118210 hereditary motor and sensory neuropathy IIa1 DOID:0110154 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym HMSN IIA1 HMSN IIa1 HMSN IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118210 HMSN IIA1 DOID:0110154 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cleft palate DOID:674 cleft palate OMIM:119540 cleft palate DOID:674 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 Cpls syndrome DOID:0080313 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 syngnathia DOID:0080313 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 DOID:0080345 blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 DOID:0080345 -MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS Fcas FCAS DOID:0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100 FCAS DOID:0090061 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS1 DOID:0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100, MONDO:Lexical FCAS1 DOID:0090062 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome papillorenal syndrome DOID:0090006 renal coloboma syndrome MONDO:Lexical, OMIM:120330 PAPILLORENAL syndrome DOID:0090006 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc DOID:11975 coloboma of optic nerve http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc DOID:11975 @@ -1588,22 +1335,15 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym uveal coloboma-cleft lip/palate-mental retardation syndrome uveal coloboma-cleft lip/palate-mental retardation syndrome Uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0001440 uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym COB1 DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:120433 COB1 DOID:0111249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 DOID:0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 COCA1 DOID:0070271 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 cone-rod dystrophy DOID:0050572 -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod retinal dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 cone-rod retinal dystrophy DOID:0050572 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 congenital contractural arachnodactyly GARD:0005899 Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arachnodactyly, contractural Beals type DOID:0111595 congenital contractural arachnodactyly GARD:0005899 arachnodactyly, contractural Beals type DOID:0111595 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym contractures, multiple with arachnodactyly DOID:0111595 congenital contractural arachnodactyly GARD:0005899 contractures, multiple with arachnodactyly DOID:0111595 MONDO:0007377 granular corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Groenouw type I DOID:0080530 granular corneal dystrophy 1 MONDO:Lexical, OMIM:121900 corneal dystrophy, Groenouw type I DOID:0080530 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy OMIM:122000 posterior polymorphous corneal dystrophy DOID:0060457 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 DOID:0110855 posterior polymorphous corneal dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 PPCD1 DOID:0110855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cornelia DE Lange syndrome 1 Cornelia DE Lange syndrome 1 Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 OMIM:122470 Cornelia DE Lange syndrome 1 DOID:0080505 -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym De Lange syndrome DOID:11725 Cornelia de Lange syndrome OMIM:122470 De Lange syndrome DOID:11725 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis NORD:1915 Spondylothoracic Dysplasia DOID:0050568 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance DOID:0080665 warfarin resistance OMIM:122700 warfarin resistance DOID:0080665 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 5P deletion syndrome chromosome 5P deletion syndrome chromosome 5p deletion syndrome DOID:12580 Cri-Du-Chat syndrome OMIM:123450 chromosome 5P deletion syndrome DOID:12580 MONDO:0007411 cutis laxa, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant cutis laxa 1 DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial complex III deficiency DOID:0111139 mitochondrial complex III deficiency GARD:0008295 mitochondrial complex III deficiency DOID:0111139 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica DOID:0050201 nephropathia epidemica OMIM:124100 nephropathia epidemica DOID:0050201 MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym DEFN DOID:3052 Balkan nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124100, DOID:3052 DEFN DOID:3052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym KHM DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003092 KHM DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym VOWNKL DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124500 VOWNKL DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1613,15 +1353,12 @@ MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption DOID:0111341 primary failure of tooth eruption OMIM:125350 dental noneruption DOID:0111341 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym unerupted second primary molar DOID:0111341 primary failure of tooth eruption OMIM:125350 unerupted second primary molar DOID:0111341 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR DOID:0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 DPR DOID:0111342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria DOID:1554 vibratory urticaria MESH:C536612 vibratory urticaria DOID:1554 MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermatographia DOID:743 dermatographia GARD:0009480 dermatographia DOID:743 MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dyskeratosis congenita 1 DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 MONDO:0007488 Lewy body dementia oio:hasExactSynonym oio:hasRelatedSynonym diffuse Lewy body disease diffuse Lewy body disease Diffuse Lewy body disease DOID:12217 Lewy body dementia Orphanet:1648, OMIM:127750 diffuse Lewy body disease DOID:12217 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia 1 DOID:0060730 torsion dystonia 1 DOID:0060730 torsion dystonia 1 DOID:0060730 -MONDO:0007496 dystonia 12 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 12 dystonia 12 Dystonia 12 DOID:0050835 generalized dystonia MONDO:Lexical, Orphanet:71517, OMIM:128235 dystonia 12 DOID:0050835 MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Basan syndrome Basan syndrome BASAN syndrome DOID:0080725 BASAN syndrome GARD:0002336, OMIM:129200 Basan syndrome DOID:0080725 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 DOID:0080401 orofacial cleft 8 OMIM:129400 orofacial cleft 8 DOID:0080401 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A DOID:0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 ECTD10A DOID:0111663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type DOID:14693 Clouston syndrome OMIM:129500 ectodermal dysplasia 2, Clouston type DOID:14693 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant isolated ectopia lentis 1 DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 @@ -1632,7 +1369,6 @@ MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasRelatedSyno MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta hypomineralization type DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta hypomineralization type DOID:0110055 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta type III DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type III DOID:0110055 -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple endocrine adenomatosis DOID:3125 multiple endocrine neoplasia NCIT:C3225 multiple endocrine adenomatosis DOID:3125 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation OMIM:131960 speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBSMP DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131960, MONDO:Lexical EBSMP DOID:0111346 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1655,34 +1391,23 @@ MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym Ca midd MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of lower third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant neoplasm of lower third of oesophagus DOID:5041 MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of middle third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 malignant neoplasm of middle third of oesophagus DOID:5041 MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 EVR1 DOID:0111412 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity DOID:13025 retinopathy of prematurity OMIM:133780 retinopathy of prematurity DOID:13025 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva DOID:13374 -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym familial infiltrative fibromatosis DOID:0111349 hereditary desmoid disease GARD:0001820 familial infiltrative fibromatosis DOID:0111349 -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym FIF DOID:0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001820 FIF DOID:0111349 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome DOID:0081021 Tukel syndrome DOID:0080143 Tukel syndrome DOID:0081021 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 mirror-Image polydactyly DOID:0111350 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym tetramelic mirror-Image polydactyly tetramelic mirror-Image polydactyly tetramelic mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 tetramelic mirror-Image polydactyly DOID:0111350 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 OMIM:135900, DOID:0070042 fifth digit syndrome DOID:0070042 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome DOID:1925 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome DOID:1925 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome OMIM:135900, DOID:0070042 fifth digit syndrome DOID:1925 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym absence of fingerprints absence of fingerprints Absence of fingerprints DOID:0111357 adermatoglyphia GARD:0012550, DOID:0111357 absence of fingerprints DOID:0111357 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia DOID:0111357 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 adermatoglyphia DOID:0111357 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym ADG DOID:0111357 adermatoglyphia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012550, DOID:0111357 ADG DOID:0111357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS DOID:0111358 Floating-Harbor syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 FLHS DOID:0111358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 foveal hypoplasia 1 OMIM:136520 foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FVH1 DOID:0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136520, MONDO:Lexical FVH1 DOID:0070530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia DOID:0081044 frontonasal dysplasia OMIM:136760 frontonasal dysplasia DOID:0081044 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 OMIM:136760, MONDO:Lexical frontonasal dysplasia 1 DOID:0081045 MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens DOID:11105 fundus albipunctatus DOID:11105, OMIM:136880 retinitis punctata albescens DOID:11105 -MONDO:0007648 hereditary diffuse gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym diffuse gastric cancer DOID:0080763 diffuse gastric cancer GARD:0010334 diffuse gastric cancer DOID:0080763 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital fissure of tongue congenital fissure of tongue Congenital fissure of tongue DOID:11514 fissured tongue DOID:11514 congenital fissure of tongue DOID:11514 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital plicated tongue congenital plicated tongue Congenital plicated tongue DOID:11514 fissured tongue DOID:11514 congenital plicated tongue DOID:11514 MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym fissure of tongue, congenital fissure of tongue, congenital Fissure of tongue, congenital DOID:11514 fissured tongue DOID:11514, ICD9CM:750.13 fissure of tongue, congenital DOID:11514 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome DOID:11119 Gilles de la Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome DOID:11119 -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasBroadSynonym iridogoniodysgenesis syndrome DOID:0050786 iridogoniodysgenesis syndrome OMIM:137600 iridogoniodysgenesis syndrome DOID:0050786 -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasRelatedSynonym iridogoniodysgenesis type 2 DOID:0050786 iridogoniodysgenesis syndrome GARD:0003026 iridogoniodysgenesis type 2 DOID:0050786 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 DOID:0111101 maturity-onset diabetes of the young type 5 DOID:0111101 maturity-onset diabetes of the young type 5 DOID:0111101 -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis DOID:6906 glomangiomatosis Orphanet:83454 glomangiomatosis DOID:6906 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis DOID:7188 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, deletion-type Alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:141750 Alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 @@ -1695,21 +1420,12 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym oio:hasRelatedSynonym HLP3 MONDO:0007737 humeroradial synostosis oio:hasRelatedSynonym oio:hasExactSynonym humero-radial fusion DOID:0060467 humeroradial synostosis DOID:0060467, Orphanet:3265 humero-radial fusion DOID:0060467 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 spondyloepiphyseal dysplasia DOID:0050813 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital JOINT dislocations DOID:0050813 -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia DOID:0050813 spondyloepiphyseal dysplasia DOID:0112280 MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym HALP1 DOID:0111369 hyperalphalipoproteinemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143470, MONDO:Lexical HALP1 DOID:0111369 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis DOID:0050428 nonepidermolytic palmoplantar keratoderma OMIM:144200 tylosis DOID:0050428 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of kidney DOID:4450 renal cell carcinoma OMIM:144700 adenocarcinoma of kidney DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma OMIM:144700 hypernephroma DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma DOID:4450 renal cell carcinoma OMIM:genemap2, OMIM:144700 renal cell carcinoma DOID:4450 -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym RCC DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:144700 RCC DOID:4450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym clear cell renal cell carcinoma DOID:4467 clear cell renal cell carcinoma Orphanet:319276 clear cell renal cell carcinoma DOID:4467 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym melanosis universalis hereditaria DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation OMIM:145250 melanosis universalis hereditaria DOID:0111373 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym FPHH DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:145250 FPHH DOID:0111373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym pituitary resistance to thyroid hormone DOID:0111374 selective pituitary thyroid hormone resistance Orphanet:165994 pituitary resistance to thyroid hormone DOID:0111374 MONDO:0007805 hypotrichosis 2 oio:hasExactSynonym oio:hasRelatedSynonym HYPT2 DOID:0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146520 HYPT2 DOID:0110699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris DOID:1702 ichthyosis vulgaris OMIM:146700 ichthyosis vulgaris DOID:1702 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070523 peeling skin syndrome 4 OMIM:146800 ichthyosis exfoliativa DOID:0070523 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070524 peeling skin syndrome 5 OMIM:146800 ichthyosis exfoliativa DOID:0070524 MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MARSILI syndrome MARSILI syndrome Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 MARSILI syndrome DOID:0081075 MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 Marsili syndrome DOID:0081075 MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ICP1 DOID:0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147480, MONDO:Lexical ICP1 DOID:0070228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1719,7 +1435,6 @@ MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS DOID:0111381 IVIC syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 OORS DOID:0111381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 chromosome 11q deletion syndrome DOID:0111723 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 partial 11q monosomy syndrome DOID:0111723 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS DOID:14694 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS DOID:14694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym Coxo-podo-patellar syndrome Coxo-podo-patellar syndrome coxo-podo-patellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 Coxo-podo-patellar syndrome DOID:0111382 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ischiocoxopodopatellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome OMIM:147891 ischiocoxopodopatellar syndrome DOID:0111382 @@ -1734,7 +1449,6 @@ MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome oio:hasExac MONDO:0007858 palmoplantar keratoderma, punctate type 1A oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type 1A DOID:0080214 punctate palmoplantar keratoderma type I DOID:0080214 punctate palmoplantar keratoderma type 1A DOID:0080214 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris striata 1 DOID:0081108 keratosis palmoplantaris striata 1 OMIM:148700 keratosis palmoplantaris striata 1 DOID:0081108 MONDO:0007860 focal palmoplantar and gingival keratoderma oio:hasExactSynonym oio:hasRelatedSynonym focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 focal palmoplantar and gingival keratosis OMIM:148730 focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 -MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kok disease DOID:0060695 hyperekplexia OMIM:149400 Kok disease DOID:0060695 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia DOID:0080833 laryngomalacia OMIM:150280 laryngomalacia DOID:0080833 MONDO:0007885 Legg-Calve-Perthes disease oio:hasRelatedSynonym oio:hasExactSynonym Legg-Calve-Perthes symptom DOID:14415 Legg-Calve-Perthes disease DOID:14415 Legg-Calve-Perthes symptom DOID:14415 MONDO:0007886 uterine corpus leiomyoma oio:hasExactSynonym oio:hasRelatedSynonym uterine leiomyoma DOID:13223 uterine fibroid DOID:13223, ICD9CM:218 uterine leiomyoma DOID:13223 @@ -1744,9 +1458,6 @@ MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:h MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed platyspondylic dwarfism, Torrance type DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 lethal short-limbed Platyspondylic dwarfism, Torrance type DOID:0111508 MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia, Torrance variant DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 thanatophoric dysplasia, Torrance variant DOID:0111508 MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym PLSDT DOID:0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151210, MONDO:Lexical PLSDT DOID:0111508 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia DOID:8527 monocytic leukemia NCIT:C4861 monocytic leukemia DOID:8527 -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukaemia DOID:8527 monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 monocytic leukaemia DOID:8527 -MONDO:0007909 familial multiple lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym lipoma DOID:3315 lipoma OMIM:151900 lipoma DOID:3315 MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema with distichiasis DOID:0111509 lymphedema-distichiasis syndrome OMIM:153400 lymphedema with distichiasis DOID:0111509 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Riley-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 Riley-Smith syndrome DOID:0050657 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 Ruvalcaba-Myhre-Smith syndrome DOID:0050657 @@ -1760,18 +1471,13 @@ MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym preaxial manibulofacial dysostosis DOID:5768 Nager acrofacial dysostosis DOID:5768 preaxial manibulofacial dysostosis DOID:5768 MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym AFD DOID:5768 Nager acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5768 AFD DOID:5768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 1 TREACHER COLLINS syndrome 1 Treacher Collins syndrome 1 DOID:0080789 Treacher Collins syndrome 1 OMIM:154500, MONDO:Lexical TREACHER COLLINS syndrome 1 DOID:0080789 -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome DOID:2908 Treacher Collins syndrome OMIM:154500 Treacher Collins syndrome DOID:2908 -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis DOID:2908 Treacher Collins syndrome OMIM:154500 mandibulofacial dysostosis DOID:2908 MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym oio:hasRelatedSynonym abnormal innervation syndrome of eyelid DOID:560 jaw-winking syndrome ICD9CM:374.43, DOID:560 abnormal innervation syndrome of eyelid DOID:560 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 Marshall syndrome GARD:0006984 deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS DOID:0111510 Marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 MRSHS DOID:0111510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa OMIM:154800 urticaria pigmentosa DOID:12309 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma DOID:3973 medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 medullary thyroid carcinoma DOID:3973 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym infratentorial primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 infratentorial primitive neuroectodermal tumor DOID:0050902 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym localized primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 localized primitive neuroectodermal tumor DOID:0050902 MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C5398, DOID:0050902 CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 CPNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity DOID:3873 desmoplastic/nodular medulloblastoma OMIM:155255 medulloblastoma with extensive nodularity DOID:3873 MONDO:0007972 Meniere disease oio:hasExactSynonym oio:hasRelatedSynonym Meniere's disease DOID:9849 Meniere's disease DOID:9849 Meniere's disease DOID:9849 MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 autosomal dominant intellectual developmental disorder 1 DOID:0070031 autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS metachondromatosis DOID:0111512 metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS DOID:0111512 @@ -1782,18 +1488,11 @@ MONDO:0007988 autosomal dominant primary microcephaly oio:hasExactSynonym oio:ha MONDO:0008016 trismus-pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA7 DOID:0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:158300, MONDO:Lexical DA7 DOID:0111603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome DOID:0050465 Muir-Torre syndrome OMIM:158320 MUIR-Torre syndrome DOID:0050465 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 DOID:0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 DOID:0111192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy GARD:0009941, OMIM:158900, MESH:C536391 Landouzy-Dejerine muscular dystrophy DOID:11727 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy DOID:11727 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 DOID:0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 FSHD2 DOID:0111193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym MST Mst MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159595 MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym oio:hasRelatedSynonym myoclonic dystonia DOID:0090033 myoclonic dystonia OMIM:159900 myoclonic dystonia DOID:0090033 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy MONDO:Lexical, OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMAPME DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159950, MONDO:Lexical SMAPME DOID:0111527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy PMID:24664454, PMID:22918376 myosin storage myopathy DOID:0111267 MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym childhood type dermatomyositis DOID:14203 childhood type dermatomyositis DOID:14203 childhood type dermatomyositis DOID:14203 -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis DOID:633 myositis OMIM:160750 myositis DOID:633 -MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Thomsen and Becker disease DOID:2106 myotonia congenita Orphanet:614 Thomsen and Becker disease DOID:2106 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI syndrome DOID:0111528 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome DOID:0111528 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nfj syndrome Nfj syndrome NFJ syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 Nfj syndrome DOID:0111528 @@ -1812,8 +1511,6 @@ MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelated MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid Nevus phakomatosis organoid Nevus phakomatosis organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome OMIM:163200 organoid Nevus phakomatosis DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome GARD:0010291 organoid nevus phakomatosis DOID:0111530 MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym JNP DOID:0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010291 JNP DOID:0111530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome DOID:3490 Noonan syndrome OMIM:163950 Noonan syndrome DOID:3490 -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008123 autosomal dominant omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 2 DOID:0080845 omodysplasia 2 MONDO:Lexical, OMIM:164745 omodysplasia 2 DOID:0080845 MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 3 with cataract DOID:0111433 optic atrophy 3 GARD:0010203 optic atrophy 3 with cataract DOID:0111433 MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym OPA3 DOID:0111433 optic atrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:165300 OPA3 DOID:0111433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1853,23 +1550,19 @@ MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:ha MONDO:0008196 parastremmatic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Parastremmatic dysplasia Parastremmatic dysplasia parastremmatic dysplasia DOID:0111539 parastremmatic dwarfism GARD:0004222 Parastremmatic dysplasia DOID:0111539 MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Parkinson's disease 1 DOID:0060367 Parkinson's disease 1 DOID:0060367 autosomal dominant Parkinson's disease 1 DOID:0060367 MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome DOID:0060563 Char syndrome OMIM:169100 CHAR syndrome DOID:0060563 -MONDO:0008210 patterned macular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym patterned dystrophy of retinal pigment epithelium DOID:0060863 patterned macular dystrophy OMIM:169150 patterned dystrophy of retinal pigment epithelium DOID:0060863 MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Imidodipeptidase deficiency Imidodipeptidase deficiency imidodipeptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 Imidodipeptidase deficiency DOID:0111540 MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Peptidase deficiency Peptidase deficiency peptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 Peptidase deficiency DOID:0111540 MONDO:0008223 hypokalemic periodic paralysis oio:hasExactSynonym oio:hasNarrowSynonym periodic paralysis I periodic paralysis I Periodic paralysis I DOID:14452 hypokalemic periodic paralysis DOID:14452 periodic paralysis I DOID:14452 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary thyroid carcinoma, familial medullary THYROID CARCINOMA, FAMILIAL MEDULLARY DOID:0050547 familial medullary thyroid carcinoma OMIM:171400 thyroid carcinoma, familial medullary DOID:0050547 MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease DOID:11870 Pick's disease DOID:11870 Pick's disease DOID:11870 MONDO:0008246 pigmented paravenous retinochoroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym pigmented paravenous chorioretinal atrophy DOID:0111541 pigmented paravenous chorioretinal atrophy MONDO:Lexical, OMIM:172870 pigmented paravenous chorioretinal atrophy DOID:0111541 MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym primary spontaneous pneumothorax DOID:0080218 primary spontaneous pneumothorax GARD:0004997, DOID:0080218 primary spontaneous pneumothorax DOID:0080218 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome DOID:0060472 Kindler syndrome OMIM:173650 KINDLER syndrome DOID:0060472 -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease DOID:0050770 polycystic liver disease MONDO:Lexical, OMIM:174050 polycystic liver disease DOID:0050770 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with median cleft of upper lip DOID:0060375 orofaciodigital syndrome V OMIM:174300 polydactyly, postaxial, with Median cleft of upper lip DOID:0060375 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease DOID:0111542 familial expansile osteolysis OMIM:174810 Mccabe disease DOID:0111542 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym FEO DOID:0111542 familial expansile osteolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174810, MONDO:Lexical FEO DOID:0111542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome DOID:0050787 juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 juvenile polyposis syndrome DOID:0050787 MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 Cronkhite-Canada syndrome OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type II DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008301 Guttmacher syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 Guttmacher syndrome GARD:0004470 autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 MONDO:0008302 central precocious puberty 1 oio:hasExactSynonym oio:hasRelatedSynonym CPPB1 DOID:0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176400, MONDO:Lexical CPPB1 DOID:0112310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome DOID:0111546 Currarino syndrome OMIM:176450 CURRARINO syndrome DOID:0111546 @@ -1888,7 +1581,6 @@ MONDO:0008334 psoriasis 1, susceptibility to oio:hasExactSynonym oio:hasRelatedS MONDO:0008346 pulmonary hemosiderosis oio:hasExactSynonym oio:hasRelatedSynonym siderosis DOID:10328 siderosis DOID:10328 siderosis DOID:10328 MONDO:0008373 retinal arterial tortuosity oio:hasExactSynonym oio:hasRelatedSynonym RATOR DOID:0111547 retinal arterial tortuosity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180000, MONDO:Lexical RATOR DOID:0111547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 DOID:0081024 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 retinal cone dystrophy 1 DOID:0081024 -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa DOID:10584 retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa DOID:10584 MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB DOID:768 retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 RB DOID:768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasBroadSynonym atrophic arthritis atrophic arthritis atrophic Arthritis DOID:7148 rheumatoid arthritis NCIT:C27206, DOID:7148 atrophic arthritis DOID:7148 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea ring dermoid of cornea DOID:0111548 ring dermoid of cornea OMIM:180550 RING dermoid of cornea DOID:0111548 @@ -1908,9 +1600,6 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis type 13 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0060204 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:183090, DOID:0060204 amyotrophic lateral sclerosis 13 DOID:0060204 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym ALS13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060204, OMIM:183090 ALS13 DOID:0060204 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy OMIM:183090 Wadia-swami syndrome DOID:14784 -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand deformity DOID:0090020 split hand-foot malformation OMIM:183600 split-hand deformity DOID:0090020 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia DOID:0112295 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism arthrogryposis skeletal maturation advanced Dysmorphism arthrogryposis skeletal maturation advanced dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier Kozlowski skeletal dysplasia DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Jequier Kozlowski skeletal dysplasia DOID:0111554 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier-Kozlowski syndrome DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 Jequier-Kozlowski syndrome DOID:0111554 @@ -1922,7 +1611,6 @@ MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExact MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym SMDCF DOID:0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184255 SMDCF DOID:0112297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex steatocystoma multiplex DOID:0111556 steatocystoma multiplex OMIM:184500 STEATOCYSTOMA multiplex DOID:0111556 MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sebaceous cysts DOID:0111556 steatocystoma multiplex GARD:0005003 multiple sebaceous cysts DOID:0111556 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS DOID:0111382 ischiocoxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS DOID:0111382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 STIFF-PERSON syndrome DOID:13366 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome Stiff-man syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 Stiff-Man syndrome DOID:13366 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome stiff skin syndrome DOID:0111561 stiff skin syndrome OMIM:184900 STIFF skin syndrome DOID:0111561 @@ -1941,9 +1629,7 @@ MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym Haas t MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym SDTY4 DOID:0111818 syndactyly type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:186200 SDTY4 DOID:0111818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 syndactyly type 5 GARD:0005089 syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym SDTY5 DOID:0111819 syndactyly type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:186300 SDTY5 DOID:0111819 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica DOID:853 polymyalgia rheumatica OMIM:187360 polymyalgia rheumatica DOID:853 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT tetralogy of Fallot DOID:6419 tetralogy of Fallot OMIM:187500 tetralogy of FALLOT DOID:6419 -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization Orphanet:3002 immune thrombocytopenia DOID:1587 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura DOID:8924 autoimmune thrombocytopenic purpura OMIM:188030 immune thrombocytopenic purpura DOID:8924 MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to factor 2 defect DOID:0111907 thrombophilia due to thrombin defect OMIM:188050 thrombophilia due to factor 2 defect DOID:0111907 MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym THPH1 DOID:0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188050 THPH1 DOID:0111907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -1954,17 +1640,13 @@ MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSy MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to activated protein C resistance DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 thrombophilia due to ACTIVATED PROTEIN C resistance DOID:0111902 MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of activated protein C cofactor DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 thrombophilia due to deficiency of Activated Protein C cofactor DOID:0111902 MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym THPH2 DOID:0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188055 THPH2 DOID:0111902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 Shprintzen syndrome DOID:12583 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 velocardiofacial syndrome DOID:12583 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym absence of tibia with polydactyly DOID:0111564 hypoplastic or aplastic tibia with polydactyly GARD:0008309 absence of tibia with polydactyly DOID:0111564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 hypoplastic or aplastic tibia with polydactyly Orphanet:988 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 MONDO:0008575 nicotine dependence oio:hasExactSynonym oio:hasRelatedSynonym tobacco use disorder DOID:0050742 nicotine dependence DOID:0050742, MESH:D014029 tobacco use disorder DOID:0050742 -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 toxaemia of pregnancy DOID:10591 MONDO:0008590 tremor, hereditary essential, 1 oio:hasExactSynonym oio:hasRelatedSynonym ETM1 DOID:0111428 essential tremor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190300, MONDO:Lexical ETM1 DOID:0111428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008596 trichorhinophalangeal syndrome type I oio:hasRelatedSynonym oio:hasExactSynonym trichorhinophalangeal dysplasia type I trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I DOID:14743 trichorhinophalangeal syndrome type I MTH:NOCODE, DOID:14743 trichorhinophalangeal dysplasia type I DOID:14743 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym complete trisomy 21 syndrome complete trisomy 21 syndrome Complete trisomy 21 syndrome DOID:14250 Down syndrome DOID:14250 complete trisomy 21 syndrome DOID:14250 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome DOID:14250 Down syndrome NCIT:C2993, DOID:14250 trisomy 21 syndrome DOID:14250 -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberose sclerosis tuberose sclerosis Tuberose sclerosis DOID:13515 tuberous sclerosis OMIM:191100 tuberose sclerosis DOID:13515 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome DOID:0050854 Muckle-Wells syndrome OMIM:191900 MUCKLE-Wells syndrome DOID:0050854 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS DOID:0050854 Muckle-Wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS DOID:0050854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices DOID:799 varicose veins Wikipedia:Varices, DOID:799 varices DOID:799 @@ -1983,20 +1665,14 @@ MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRe MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVD DOID:0111570 snowflake vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193230, MONDO:Lexical SVD DOID:0111570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008673 acrofacial dysostosis, Weyers type oio:hasExactSynonym oio:hasRelatedSynonym WAD wad WAD DOID:0111571 Weyers acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193530, MONDO:Lexical WAD DOID:0111571 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA2A DOID:0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193700, MONDO:Lexical DA2A DOID:0111605 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym White sponge Nevus of Cannon White sponge Nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus OMIM:193900 White sponge Nevus of Cannon DOID:0050448 MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym WHITE sponge NEVUS 1 WHITE sponge NEVUS 1 white sponge nevus 1 DOID:0081287 white sponge nevus 1 OMIM:193900 WHITE sponge NEVUS 1 DOID:0081287 MONDO:0008678 Williams syndrome oio:hasExactSynonym oio:hasRelatedSynonym WBS DOID:1928 Williams-Beuren syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194050 WBS DOID:1928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008681 WAGR syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P13 deletion syndrome chromosome 11P13 deletion syndrome chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome OMIM:194072 chromosome 11P13 deletion syndrome DOID:14515 MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 4P16.3 deletion syndrome chromosome 4P16.3 deletion syndrome chromosome 4p16.3 deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome OMIM:194190 chromosome 4P16.3 deletion syndrome DOID:0050460 -MONDO:0008686 isolated familial wooly hair disorder oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194300 ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym dehydrated hereditary stomatocytosis DOID:0111575 dehydrated hereditary stomatocytosis OMIM:194380 dehydrated hereditary stomatocytosis DOID:0111575 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DOID:0111576 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema DOID:0111576 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Edinburgh pseudohyperkalemia Edinburgh pseudohyperkalemia edinburgh DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 pseudohyperkalemia Edinburgh DOID:0111576 -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis DOID:0050765 neuroacanthocytosis OMIM:200150 neuroacanthocytosis DOID:0050765 MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym choreaacanthocytosis DOID:0050766 choreaacanthocytosis DOID:0050766 choreaacanthocytosis DOID:0050766 -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis OMIM:200610 hypochondrogenesis DOID:0080044 -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis NCIT:C3816 hypochondrogenesis DOID:0080044 MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasNarrowSynonym factor I deficiency factor I deficiency Factor I deficiency DOID:2236 congenital afibrinogenemia DOID:2236 factor I deficiency DOID:2236 MONDO:0008740 agnathia-otocephaly complex oio:hasExactSynonym oio:hasRelatedSynonym Dysgnathia Complex agnathia-holoprosencephaly Dysgnathia Complex agnathia-holoprosencephaly dysgnathia complex agnathia-holoprosencephaly DOID:0060341 agnathia-otocephaly complex OMIM:202650 Dysgnathia Complex agnathia-holoprosencephaly DOID:0060341 MONDO:0008745 oculocutaneous albinism type 1A oio:hasExactSynonym oio:hasRelatedSynonym oculocutaneous albinism type IA DOID:0070094 oculocutaneous albinism type IA DOID:0070094 oculocutaneous albinism type IA DOID:0070094 @@ -2006,7 +1682,6 @@ MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedS MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-ketoglutarate dehydrogenase deficiency ALPHA-ketoglutarate dehydrogenase deficiency alpha-ketoglutarate dehydrogenase deficiency DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 ALPHA-ketoglutarate dehydrogenase deficiency DOID:0081326 MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym Oxoglutaric aciduria DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 Oxoglutaric aciduria DOID:0081326 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency DOID:14723 beta-ketothiolase deficiency OMIM:203750 mitochondrial acetoacetyl-Coa thiolase deficiency DOID:14723 -MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA DOID:14791 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 LCA DOID:14791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten disease DOID:0110731 neuronal ceroid lipofuscinosis 3 OMIM:204200 batten disease DOID:0110731 MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia oio:hasExactSynonym oio:hasRelatedSynonym ALS-dementia Complex ALS-dementia Complex ALS-dementia complex DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia OMIM:205200 ALS-dementia Complex DOID:0110067 MONDO:0008798 nonsyndromic congenital nail disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym anonychia congenita DOID:0080082 nonsyndromic congenital nail disorder 4 DOID:0050643 anonychia congenita DOID:0080082 @@ -2020,13 +1695,10 @@ MONDO:0008803 Antley-Bixler syndrome oio:hasExactSynonym oio:hasRelatedSynonym A MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym C-II Anapolipoproteinemia C-II Anapolipoproteinemia C-II anapolipoproteinemia DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 C-II Anapolipoproteinemia DOID:0111418 MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1b DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 hyperlipoproteinemia, type 1B DOID:0111418 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency DOID:14755 argininosuccinic aciduria OMIM:207900 argininosuccinate lyase deficiency DOID:14755 -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome ARC syndrome DOID:0050763 ARC syndrome OMIM:208085 Arc syndrome DOID:0050763 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical ARCS1 DOID:0111353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome OMIM:208150 fetal akinesia sequence DOID:0111375 MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym foetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome http://purl.obolibrary.org/obo/OMO_0003005 foetal akinesia sequence DOID:0111375 -MONDO:0008831 asphyxiating thoracic dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Jeune syndrome DOID:0050592 asphyxiating thoracic dystrophy OMIM:208500 Jeune syndrome DOID:0050592 MONDO:0008834 asthma, nasal polyps, and aspirin intolerance oio:hasExactSynonym oio:hasRelatedSynonym Asa triad Asa triad ASA triad DOID:0111579 asthma, nasal polyps, and aspirin intolerance OMIM:208550 Asa triad DOID:0111579 -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome DOID:0060549 Barber-Say syndrome OMIM:209885 BARBER-SAY syndrome DOID:0060549 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym bare lymphocyte syndrome type II DOID:5812 MHC class II deficiency DOID:5812 bare lymphocyte syndrome type II DOID:5812 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym BLSII DOID:5812 MHC class II deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5812 BLSII DOID:5812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2034,15 +1706,8 @@ MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 Behr syndrome GARD:0000849 optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0000849 optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 BEHRS DOID:0111580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-Methylcrotonyl-Coa carboxylase deficiency 3-Methylcrotonyl-Coa carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 3-Methylcrotonyl-Coa carboxylase deficiency DOID:0050710 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-methylcrotonylglycinuria 3-methylcrotonylglycinuria 3-Methylcrotonylglycinuria DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 3-methylcrotonylglycinuria DOID:0050710 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bmcc deficiency Bmcc deficiency BMCC deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 Bmcc deficiency DOID:0050710 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 3-METHYLCROTONYL-CoA carboxylase 1 deficiency DOID:0080579 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 3-METHYLCROTONYL-CoA carboxylase 2 deficiency DOID:0080580 -MONDO:0008869 Seckel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism Bird-headed dwarfism bird-headed dwarfism DOID:0050569 Seckel syndrome OMIM:210600 Bird-headed dwarfism DOID:0050569 -MONDO:0008890 progressive bulbar palsy oio:hasExactSynonym oio:hasNarrowSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease OMIM:211500 Fazio-Londe disease DOID:0080632 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 OMIM:211530, MONDO:Lexical Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis DOID:0070221 progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis DOID:0070221 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification and distal joint calcification DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 arterial calcification and distal joint calcification DOID:0111582 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to CD73 deficiency DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 arterial calcification due to CD73 deficiency DOID:0111582 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of CD73 DOID:0111582 hereditary arterial and articular multiple calcification syndrome OMIM:211800 arterial calcification due to deficiency of Cd73 DOID:0111582 @@ -2067,22 +1732,16 @@ MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:ha MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym LHRH deficiency and ataxia DOID:0111587 Gordon Holmes syndrome OMIM:212840 LHRH deficiency and ataxia DOID:0111587 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym GDHS DOID:0111587 Gordon Holmes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:212840 GDHS DOID:0111587 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008939 isolated cerebellar hypoplasia/agenesis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia DOID:0070338 cerebellar hypoplasia OMIM:213000 cerebellar hypoplasia DOID:0070338 -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome DOID:0050777 Joubert syndrome OMIM:213300 Joubert syndrome DOID:0050777 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cerebellooculorenal syndrome 1 Cerebellooculorenal syndrome 1 cerebellooculorenal syndrome 1 DOID:0110980 Joubert syndrome 1 OMIM:213300 Cerebellooculorenal syndrome 1 DOID:0110980 MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym oio:hasNarrowSynonym Fahr disease DOID:0060230 basal ganglia calcification http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060230 Fahr disease DOID:0060230 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) oio:hasExactSynonym oio:hasRelatedSynonym Cerebrohepatorenal syndrome Cerebrohepatorenal syndrome cerebrohepatorenal syndrome DOID:905 Zellweger syndrome OMIM:214100 Cerebrohepatorenal syndrome DOID:905 -MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym CLD DOID:0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010001 CLD DOID:0111646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency DOID:0060602 alpha-methylacyl-CoA racemase deficiency Orphanet:79095 AMACR deficiency DOID:0060602 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid in bile trihydroxycoprostanic acid in bile DOID:0111068 congenital bile acid synthesis defect 4 OMIM:214950 Trihydroxycoprostanic acid in bile DOID:0111068 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 DOID:0110851 rhizomelic chondrodysplasia punctata type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical RCDP1 DOID:0110851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata OMIM:215100 chondrodysplasia punctata, rhizomelic form DOID:2580 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Greenberg skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 Greenberg skeletal dysplasia DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 Greenberg dysplasia GARD:0008754 autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBGD DOID:0111588 Greenberg dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215140 GRBGD DOID:0111588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasNarrowSynonym chondrosarcoma of bone DOID:3371 chondrosarcoma DOID:3371 chondrosarcoma of bone DOID:3371 MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym primary chondrosarcoma of the bone DOID:3371 chondrosarcoma DOID:3371 primary chondrosarcoma of the bone DOID:3371 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia DOID:9273 citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia DOID:9273 MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome OMIM:216340 cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia DOID:0060589 MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypotonia, obesity, and prominent incisors hypotonia, obesity, and prominent incisors Hypotonia, obesity, and prominent incisors DOID:0111590 Cohen syndrome OMIM:216550 hypotonia, obesity, and prominent incisors DOID:0111590 MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym pepper syndrome pepper syndrome Pepper syndrome DOID:0111590 Cohen syndrome OMIM:216550 pepper syndrome DOID:0111590 @@ -2094,7 +1753,6 @@ MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasE MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHDTHP DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217085, MONDO:Lexical CHDTHP DOID:0111591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy and perceptive deafness DOID:0111620 corneal dystrophy-perceptive deafness syndrome MONDO:Lexical, OMIM:217400 corneal dystrophy and perceptive deafness DOID:0111620 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym CDPD1 Cdpd1 CDPD1 DOID:0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217400 CDPD1 DOID:0111620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy DOID:0060443 corneal endothelial dystrophy OMIM:217700, MESH:C536439 corneal endothelial dystrophy DOID:0060443 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym cortisol 11-Beta-ketoreductase deficiency cortisol 11-Beta-ketoreductase deficiency cortisol 11-beta-ketoreductase deficiency DOID:4367 apparent mineralocorticoid excess syndrome OMIM:218030 cortisol 11-Beta-ketoreductase deficiency DOID:4367 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism, corpus callosum agenesis and colobomas Dysmorphism, corpus callosum agenesis and colobomas dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 Temtamy syndrome GARD:0005688 Dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome DOID:0111621 Temtamy syndrome OMIM:218340 TEMTAMY syndrome DOID:0111621 @@ -2114,14 +1772,10 @@ MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:h MONDO:0009052 cutis laxa, autosomal recessive, type 1A oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IA DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym De Barsy syndrome a De Barsy syndrome a De Barsy syndrome A DOID:0070132 autosomal recessive cutis laxa type IIIA OMIM:219150 De Barsy syndrome a DOID:0070132 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIIA DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A DOID:0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical ARCL2A DOID:0070134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type II classic type DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 MONDO:0009063 ventriculomegaly-cystic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym ventriculomegaly with cystic kidney disease DOID:0111625 ventriculomegaly - cystic kidney disease OMIM:219730, MONDO:Lexical ventriculomegaly with cystic kidney disease DOID:0111625 -MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy Orphanet:254905 isolated cytochrome C oxidase deficiency DOID:0081377 MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-glycericacidemia DOID:0111626 D-glyceric aciduria GARD:0000234 D-glycericacidemia DOID:0111626 MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym non ketotic hyperglycinemia syndrome DOID:0111626 D-glyceric aciduria GARD:0000234 non ketotic hyperglycinemia syndrome DOID:0111626 -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia DOID:0060565 Ritscher-Schinzel syndrome OMIM:220210 Craniocerebellocardiac dysplasia DOID:0060565 -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome DOID:0060565 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 Ritscher-Schinzel syndrome DOID:0060565 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A DOID:0110475 autosomal recessive deafness 1A DOID:0110475 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A OMIM:220290 autosomal recessive nonsyndromic deafness 1A DOID:0110475 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym DFNB1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:220290, DOID:0110475 DFNB1A DOID:0110475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2130,9 +1784,7 @@ MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oi MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness and myopia syndrome DOID:0111628 high myopia-sensorineural deafness syndrome GARD:0012844 deafness and myopia syndrome DOID:0111628 MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym DFNMYP DOID:0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:221200 DFNMYP DOID:0111628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WOLFRAM syndrome 1 WOLFRAM syndrome 1 Wolfram syndrome 1 DOID:0110629 Wolfram syndrome 1 OMIM:222300 WOLFRAM syndrome 1 DOID:0110629 -MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WFS Wfs WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222300 WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria DOID:0090144 Donnai-Barrow syndrome OMIM:222448 diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria DOID:0090144 -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance lysinuric protein intolerance DOID:0060439 lysinuric protein intolerance OMIM:222700 lysinuric PROTEIN intolerance DOID:0060439 MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect glutamate-aspartate transport defect DOID:0060650 dicarboxylic aminoaciduria OMIM:222730 glutamate-aspartate Transport defect DOID:0060650 MONDO:0009111 dihydropyrimidinuria oio:hasExactSynonym oio:hasRelatedSynonym Dph deficiency Dph deficiency DPH deficiency DOID:0111629 dihydropyrimidinase deficiency OMIM:222748 Dph deficiency DOID:0111629 @@ -2152,13 +1804,11 @@ MONDO:0009134 congenital dyserythropoietic anemia type 2 oio:hasExactSynonym oio MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDA Ia DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120 CDA Ia DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDAN1A DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120, MONDO:Lexical CDAN1A DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive dyskeratosis congenita 1 DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome DOID:0060306 Meier-Gorlin syndrome OMIM:224690 Meier-Gorlin syndrome DOID:0060306 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-GORLIN syndrome 1 Meier-GORLIN syndrome 1 Meier-Gorlin syndrome 1 DOID:0080512 Meier-Gorlin syndrome 1 OMIM:224690 Meier-GORLIN syndrome 1 DOID:0080512 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome Schopf-Schulz-Passarge syndrome DOID:0111647 Schopf-Schulz-Passarge syndrome MONDO:Lexical, OMIM:224750 SCHOPF-Schulz-Passarge syndrome DOID:0111647 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B DOID:0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical ECTD10B DOID:0111665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym CLPED1 DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253 CLPED1 DOID:0060773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 7 DOID:0080400 orofacial cleft 7 OMIM:225060 orofacial cleft 7 DOID:0080400 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive isolated ectopia lentis 2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym oio:hasRelatedSynonym ectopia lentis with ectopia of pupil DOID:0111648 ectopia lentis with ectopia of pupil OMIM:225200 ectopia lentis with ectopia of pupil DOID:0111648 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 5 DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 @@ -2182,8 +1832,6 @@ MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency DOID:2222 factor X deficiency OMIM:227600 factor X deficiency DOID:2222 MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym FACC facc FACC DOID:0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227645 FACC DOID:0111087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym FAD2 Fad2 FAD2 DOID:0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227646 FAD2 DOID:0111083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia DOID:13636 Fanconi anemia OMIM:227650 Fanconi Anemia DOID:13636 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anaemia Fanconi Anaemia Fanconi anaemia DOID:13636 Fanconi anemia http://purl.obolibrary.org/obo/OMO_0003005 Fanconi Anaemia DOID:13636 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease XI DOID:0070562 Fanconi-Bickel syndrome GARD:0002268 glycogen storage disease XI DOID:0070562 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type DOID:0070562 Fanconi-Bickel syndrome OMIM:227810 glycogenosis, Fanconi type DOID:0070562 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency N-laurylsphingosine deacylase deficiency DOID:0050464 Farber lipogranulomatosis OMIM:228000 N-Laurylsphingosine deacylase deficiency DOID:0050464 @@ -2197,12 +1845,10 @@ MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria FIGLU-uria DOID:0111679 glutamate formiminotransferase deficiency OMIM:229100 Figlu-Uria DOID:0111679 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminoglutamic acidemia DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 formiminoglutamic acidemia DOID:0111679 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency syndrome DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 formiminotransferase deficiency syndrome DOID:0111679 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 DOID:0080729 brittle cornea syndrome 2 DOID:14775 brittle cornea syndrome 2 DOID:0080729 MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 DOID:14775 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical brittle cornea syndrome 1 DOID:14775 MONDO:0009252 essential fructosuria oio:hasExactSynonym oio:hasRelatedSynonym hepatic fructokinase deficiency DOID:0111680 essential fructosuria OMIM:229800 hepatic fructokinase deficiency DOID:0111680 MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency DOID:0111458 galactose epimerase deficiency OMIM:230350 Gale deficiency DOID:0111458 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency DOID:0111459 classic galactosemia OMIM:230400 Galt deficiency DOID:0111459 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia DOID:9870 galactosemia OMIM:230400 galactosemia DOID:9870 MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GELEOPHYSIC dysplasia 1 GELEOPHYSIC dysplasia 1 geleophysic dysplasia 1 DOID:0111725 geleophysic dysplasia 1 OMIM:231050 GELEOPHYSIC dysplasia 1 DOID:0111725 MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD1 DOID:0111725 geleophysic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231050, MONDO:Lexical GPHYSD1 DOID:0111725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GERODERMA OSTEODYSPLASTICUM GERODERMA OSTEODYSPLASTICUM geroderma osteodysplasticum DOID:0111266 geroderma osteodysplasticum OMIM:231070, MONDO:Lexical GERODERMA OSTEODYSPLASTICUM DOID:0111266 @@ -2211,7 +1857,6 @@ MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym Walt Disney dwarfism DOID:0111266 geroderma osteodysplasticum OMIM:231070 Walt Disney dwarfism DOID:0111266 MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GO DOID:0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:231070 GO DOID:0111266 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia DOID:0112251 Ghosal hematodiaphyseal syndrome OMIM:231095 GHOSAL hematodiaphyseal dysplasia DOID:0112251 -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos DOID:11211 buphthalmos DOID:11211, OMIM:231300 buphthalmos DOID:11211 MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym AAAS DOID:0050602 triple-A syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231550, MONDO:Lexical AAAS DOID:0050602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009281 glutaryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym glutaric acidemia I DOID:0111254 glutaric acidemia I OMIM:231670 glutaric acidemia I DOID:0111254 @@ -2225,8 +1870,6 @@ MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 GGT deficiency DOID:0111257 MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT1 deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency GARD:0010099 GGT1 deficiency DOID:0111257 MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GTG deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 GTG deficiency DOID:0111257 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Von Gierke disease von Gierke disease DOID:0081329 glycogen storage disease I OMIM:232200 Von Gierke disease DOID:0081329 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 1 glycogen storage disease 1 Glycogen storage disease 1 DOID:0081329 glycogen storage disease I OMIM:232200 glycogen storage disease 1 DOID:0081329 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease Ia DOID:2749 glycogen storage disease Ia OMIM:232200, MONDO:Lexical glycogen storage disease Ia DOID:2749 MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 2 glycogen storage disease 2 Glycogen storage disease 2 DOID:2752 glycogen storage disease II OMIM:232300 glycogen storage disease 2 DOID:2752 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 3 glycogen storage disease 3 Glycogen storage disease 3 DOID:2748 glycogen storage disease III OMIM:232400 glycogen storage disease 3 DOID:2748 @@ -2260,11 +1903,8 @@ MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRe MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type DOID:0112255 homocystinuria-megaloblastic anemia cblE type OMIM:236270 vitamin B12-responsive homocystinuria, cblE type DOID:0112255 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE DOID:0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 HMAE DOID:0112255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARCH DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236500 MARCH DOID:0080327 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 hard syndrome DOID:0050560 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 OMIM:236670 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related DOID:0111237 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 MDDGA1 DOID:0111237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome DOID:0050779 hydrolethalus syndrome OMIM:genemap2, OMIM:236680 hydrolethalus syndrome DOID:0050779 MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 DOID:0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical HLS1 DOID:0111355 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kaufman McKusick syndrome DOID:0111255 McKusick-Kaufman syndrome GARD:0003427 Kaufman McKusick syndrome DOID:0111255 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome McKusick-Kaufman syndrome DOID:0111255 McKusick-Kaufman syndrome OMIM:236700 MCKUSICK-Kaufman syndrome DOID:0111255 @@ -2281,7 +1921,6 @@ MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency oio:ha MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome HHH syndrome DOID:0050720 ornithine translocase deficiency OMIM:238970 Hhh syndrome DOID:0050720 MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym SOST-related sclerosing bone dysplasia DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease van Buchem disease DOID:0080036 SOST-related sclerosing bone dysplasia OMIM:239100 VAN Buchem disease DOID:0080036 -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Mabry syndrome DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome OMIM:239300 Mabry syndrome DOID:0070431 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 OMIM:239300 glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS1 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:239300 HPMRS1 DOID:0070433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Whitaker syndrome DOID:0050167 autoimmune polyendocrine syndrome type 1 GTR:AN0156902 Whitaker syndrome DOID:0050167 @@ -2308,14 +1947,8 @@ MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynon MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 Baraitser-Winter syndrome 1 DOID:0081112 Baraitser-Winter syndrome 1 OMIM:243310 Baraitser-WINTER syndrome 1 DOID:0081112 MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency DOID:14753 isovaleric acidemia OMIM:243500 isovaleric acid Coa dehydrogenase deficiency DOID:14753 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome DOID:14694 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome DOID:14694 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome DOID:0050144 Kartagener syndrome OMIM:244400 Kartagener syndrome DOID:0050144 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis DOID:9563 bronchiectasis OMIM:244400 Polynesian bronchiectasis DOID:9563 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym Kaufman oculocerebrofacial syndrome DOID:0111456 Kaufman oculocerebrofacial syndrome OMIM:244450, MONDO:Lexical Kaufman oculocerebrofacial syndrome DOID:0111456 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym KCS Kcs KCS DOID:12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244460 KCS DOID:12895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide beta-galactosidase deficiency DOID:10587 Krabbe disease OMIM:245200 galactosylceramide Beta-galactosidase deficiency DOID:10587 -MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasBroadSynonym succinate-CoA ligase deficiency DOID:0080124 mitochondrial DNA depletion syndrome 5 ORCID:0000-0001-6330-7526, PMID:26475597, PMID:31240156 succinate-CoA ligase deficiency DOID:0080124 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome DOID:1930 Laurence-Moon syndrome OMIM:245800 Laurence-MOON syndrome DOID:1930 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym LNMS DOID:1930 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245800, MONDO:Lexical LNMS DOID:1930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency OMIM:246450 HMG-Coa lyase deficiency DOID:0070541 @@ -2327,11 +1960,8 @@ MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 familial lipase maturation factor 1 deficiency OMIM:246650 lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda mal de Meleda DOID:0060862 mal de Meleda OMIM:248300 MAL DE Meleda DOID:0060862 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MDM DOID:0060862 mal de Meleda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0000092, OMIM:248300 MDM DOID:0060862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia DOID:0081127 mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia DOID:0081127 MONDO:0009558 Treacher Collins syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 3 TREACHER COLLINS syndrome 3 Treacher Collins syndrome 3 DOID:0080791 Treacher Collins syndrome 3 OMIM:248390 TREACHER COLLINS syndrome 3 DOID:0080791 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency DOID:3633 beta-mannosidosis OMIM:248510 lysosomal Beta-mannosidase deficiency DOID:3633 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 Meckel syndrome DOID:0050778 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 Meckel-Gruber syndrome DOID:0050778 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 DOID:0070115 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anemia syndrome thiamine-responsive Anemia syndrome thiamine-responsive anemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome OMIM:249270 thiamine-responsive Anemia syndrome DOID:0090117 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anaemia syndrome thiamine-responsive Anaemia syndrome thiamine-responsive anaemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/OMO_0003005 thiamine-responsive Anaemia syndrome DOID:0090117 @@ -2363,10 +1993,8 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency type B DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis II alpha/beta DOID:0080070 mucolipidosis II alpha/beta OMIM:252500 mucolipidosis II alpha/beta DOID:0080070 MONDO:0009652 GNPTG-mucolipidosis oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III gamma DOID:0080678 mucolipidosis III gamma OMIM:252605 mucolipidosis III gamma DOID:0080678 -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency DOID:12801 mucopolysaccharidosis III OMIM:252900 heparan sulfate sulfatase deficiency DOID:12801 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym Mucopoly-saccharidosis type 3B DOID:0111394 mucopolysaccharidosis type IIIB GARD:0007072 Mucopoly-saccharidosis type 3B DOID:0111394 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB OMIM:252920 NAGLU deficiency DOID:0111394 -MONDO:0009656 mucopolysaccharidosis type 3B oio:hasNarrowSynonym oio:hasRelatedSynonym NAGLU deficiency NAGLU deficiency naglu deficiency DOID:12801 mucopolysaccharidosis III OMIM:252920 NAGLU deficiency DOID:12801 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 mucopolysaccharidosis type IIID OMIM:252940 N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym MPS IIID DOID:0111402 mucopolysaccharidosis type IIID http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007074 MPS IIID DOID:0111402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasBroadSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA OMIM:253000 Morquio A disease DOID:0111391 @@ -2374,8 +2002,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasRelatedSy MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym oio:hasRelatedSynonym MPS IVB DOID:0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003786 MPS IVB DOID:0111392 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis VI DOID:12800 mucopolysaccharidosis VI DOID:12800 mucopolysaccharidosis VI DOID:12800 MONDO:0009664 mulibrey nanism oio:hasExactSynonym oio:hasRelatedSynonym pericardial constriction and Growth failure pericardial constriction and Growth failure PERICARDIAL CONSTRICTION AND GROWTH FAILURE DOID:0050436 mulibrey nanism OMIM:253250 pericardial constriction and Growth failure DOID:0050436 -MONDO:0009665 biotinidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym biotin deficiency DOID:0050810 biotin deficiency GARD:0000894 biotin deficiency DOID:0050810 -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency NCIT:C98842 multiple carboxylase deficiency DOID:857 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 OMIM:253280 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA3 DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253280, MONDO:Lexical MDDGA3 DOID:0111236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile muscular atrophy DOID:13137 Werdnig-Hoffmann disease DOID:13137 infantile muscular atrophy DOID:13137 @@ -2384,22 +2010,11 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroad MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym muscular atrophy, spinal, Intermediate type muscular atrophy, spinal, Intermediate type MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE DOID:0050530 intermediate spinal muscular atrophy OMIM:253550 muscular atrophy, spinal, Intermediate type DOID:0050530 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy type II DOID:0050530 intermediate spinal muscular atrophy GARD:0004945 spinal muscular atrophy type II DOID:0050530 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym SMA II DOID:0050530 intermediate spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004945 SMA II DOID:0050530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich Scleroatonic muscular dystrophy Ullrich Scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich Scleroatonic muscular dystrophy DOID:0050558 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich congenital muscular dystrophy DOID:0050558 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich disease DOID:0050558 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 DOID:0070199 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 CMS1A DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2 Cms Ia2 CMS Ia2 DOID:0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254210 CMS Ia2 DOID:0110671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B DOID:0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 CMS1B DOID:0110662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis DOID:4971 myelofibrosis OMIM:254450 myelofibrosis DOID:4971 -MONDO:0009692 primary myelofibrosis oio:hasRelatedSynonym oio:hasExactSynonym aleukemic myelosis DOID:6004 aleukemic leukemia DOID:4971 aleukemic myelosis DOID:6004 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis OMIM:254500 Al amyloidosis DOID:0080933 -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy DOID:891 progressive myoclonus epilepsy OMIM:254800 progressive myoclonic epilepsy DOID:891 MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB DOID:0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 MSMB DOID:0111268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009709 myopathy, centronuclear, 2 oio:hasExactSynonym oio:hasRelatedSynonym CNM2 DOID:0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255200 CNM2 DOID:0111220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 DOID:0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 NPH1 DOID:0111112 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:256450 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 DOID:0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical HHF1 DOID:0070219 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis DOID:3343 glycoproteinosis DOID:3343 glycoproteinosis DOID:3343 MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis DOID:3343 glycoproteinosis DOID:3343 sialidosis DOID:3343 @@ -2407,11 +2022,9 @@ MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSyn MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 6 DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972, DOID:0080125 mitochondrial DNA depletion syndrome 6 DOID:0080125 MONDO:0009751 neuropathy, hereditary sensory, atypical oio:hasExactSynonym oio:hasRelatedSynonym atypical hereditary sensory neuropathy DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelin lipidosis DOID:14504 Niemann-Pick disease OMIM:257200 sphingomyelin lipidosis DOID:14504 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C1 DOID:0070113 Niemann-Pick disease type C1 DOID:0070113, GARD:0007207 Niemann-Pick disease type C1 DOID:0070113 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym NPC1 DOID:0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257220, MONDO:Lexical NPC1 DOID:0070113 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MOSAIC variegated aneuploidy syndrome 1 DOID:0080141 -MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym oculopalatoskeletal syndrome DOID:0060225 3MC syndrome OMIM:257920 oculopalatoskeletal syndrome DOID:0060225 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 Oligochiasmatic infertility DOID:0070188 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligosynaptic infertility Oligosynaptic infertility oligosynaptic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 Oligosynaptic infertility DOID:0070188 MONDO:0009779 autosomal recessive omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 1 DOID:0080844 omodysplasia 1 OMIM:258315, MONDO:Lexical omodysplasia 1 DOID:0080844 @@ -2427,23 +2040,13 @@ MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 Parkinson's disease 15 DOID:0060372 autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm DOID:1793 pancreatic cancer DOID:1793 pancreas neoplasm DOID:1793 MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 Shwachman-Diamond syndrome DOID:0080023 Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP DOID:0112308 central precocious puberty http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP DOID:0112308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasNarrowSynonym childhood choroid plexus papilloma DOID:2626 choroid plexus papilloma DOID:2626 childhood choroid plexus papilloma DOID:2626 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma DOID:5648 choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma DOID:5648 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-Xylulosuria L-Xylulosuria L-xylulosuria DOID:0111258 pentosuria OMIM:260800 L-Xylulosuria DOID:0111258 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-xylulose reductase deficiency DOID:0111258 pentosuria OMIM:260800 L-xylulose reductase deficiency DOID:0111258 MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym PNTSU DOID:0111258 pentosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260800 PNTSU DOID:0111258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJS DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:262000 BJS DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTD DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:262000 PTD DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital IGHD DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital isolated GH deficiency DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 congenital isolated growth hormone deficiency DOID:0060870 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 non-acquired isolated growth hormone deficiency DOID:0060870 MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Illig-type Growth hormone deficiency Illig-type Growth hormone deficiency Illig-type growth hormone deficiency DOID:0060873 isolated growth hormone deficiency type IA OMIM:262400 Illig-type Growth hormone deficiency DOID:0060873 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 DOID:0080212 polycystic kidney disease 4 DOID:0110861 polycystic kidney and hepatic disease 1 DOID:0080212 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type i DOID:0080212 polycystic kidney disease 4 DOID:0110861 polycystic kidney disease, infantile, type I DOID:0080212 -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease DOID:0110861 polycystic kidney and hepatic disease 1 DOID:898 -MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym oio:hasRelatedSynonym primary polycythemia DOID:10780 primary polycythemia GARD:0007422 primary polycythemia DOID:10780 MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym ECYT2 DOID:0060474 familial erythrocytosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263400, MONDO:Lexical ECYT2 DOID:0060474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 BH4-deficient hyperphenylalaninemia D GARD:0002843 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 MONDO:0009910 Wiedemann-Rautenstrauch syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, neonatal progeroid syndrome, neonatal PROGEROID SYNDROME, NEONATAL DOID:0081333 Wiedemann-Rautenstrauch syndrome OMIM:264090 progeroid syndrome, neonatal DOID:0081333 @@ -2457,12 +2060,8 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation persistent foetal circulation Persistent foetal circulation DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 persistent foetal circulation DOID:13042 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation syndrome DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 persistent foetal circulation syndrome DOID:13042 MONDO:0009943 Pyle disease oio:hasExactSynonym oio:hasBroadSynonym metaphyseal dysplasia DOID:0080019 metaphyseal dysplasia MONDO:0000841, OMIM:265900 metaphyseal dysplasia DOID:0080019 -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 AASA dehydrogenase deficiency DOID:0070519 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency DOID:0080699 glutathione synthetase deficiency OMIM:266130, MONDO:Lexical glutathione synthetase deficiency DOID:0080699 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym Pk deficiency Pk deficiency PK deficiency DOID:0111077 pyruvate kinase deficiency of red cells OMIM:266200 Pk deficiency DOID:0111077 MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIc DOID:0070255 congenital disorder of glycosylation type IIc GARD:0004634 congenital disorder of glycosylation type IIC DOID:0070255 -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym ulcerative colitis DOID:8577 ulcerative colitis OMIM:266600 ulcerative colitis DOID:8577 -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Crohn disease DOID:8778 Crohn's disease OMIM:266600 Crohn disease DOID:8778 MONDO:0009966 NPHP3-related Meckel-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 7 DOID:0070121 Meckel syndrome 7 GARD:0004665 Meckel syndrome 7 DOID:0070121 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym HLH1 Hlh1 HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:267700 HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2475,13 +2074,10 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS DO MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel Giedion syndrome DOID:0070509 Schinzel Giedion syndrome GARD:0000117 Schinzel Giedion syndrome DOID:0070509 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome DOID:0070509 Schinzel Giedion syndrome OMIM:269150 Schinzel-Giedion midface retraction syndrome DOID:0070509 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS DOID:0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS DOID:0070509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal opacification and other ocular anomalies DOID:0060648 anterior segment dysgenesis DOID:0060648 corneal opacification and other ocular anomalies DOID:0060648 -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym sclerocornea with Other ocular anomalies sclerocornea with Other ocular anomalies sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis OMIM:269400 sclerocornea with Other ocular anomalies DOID:0060648 MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis DOID:4423 sea-blue histiocytosis OMIM:269600 sea-blue histiocytosis DOID:4423 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 48 DOID:0111943 immunodeficiency 48 OMIM:269840 immunodeficiency 48 DOID:0111943 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD48 DOID:0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269840 IMD48 DOID:0111943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010026 SHORT syndrome oio:hasExactSynonym oio:hasRelatedSynonym short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 SHORT syndrome OMIM:269880 short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus DOID:0050545 visceral heterotaxy NCIT:C87121 situs ambiguus DOID:0050545 MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjogren's syndrome DOID:12894 Sjogren's syndrome DOID:12894 Sjogren's syndrome DOID:12894 MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym FALDH deficiency DOID:14501 Sjogren-Larsson syndrome OMIM:270200 FALDH deficiency DOID:14501 MONDO:0010044 hereditary spastic paraplegia 15 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia and retinal Degeneration spastic paraplegia and retinal Degeneration spastic paraplegia and retinal degeneration DOID:0110768 hereditary spastic paraplegia 15 OMIM:270700 spastic paraplegia and retinal Degeneration DOID:0110768 @@ -2491,7 +2087,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 autosomal recessive spinocerebellar ataxia 3 Orphanet:95433 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia sponastrime dysplasia DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type OMIM:271510 Sponastrime dysplasia DOID:5684 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability OMIM:271620 spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasBroadSynonym SEMDJL DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271640 SEMDJL DOID:0112197 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 OMIM:271640 spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures DOID:0112198 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED short limb-hand type DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 SMED short limb-hand type DOID:0112196 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED type 2 DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 SMED type 2 DOID:0112196 @@ -2506,7 +2101,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Aspa def MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease CANAVAN-VAN BOGAERT-BERTRAND DISEASE DOID:3613 Canavan disease OMIM:271900 Canavan-Van Bogaert-Bertrand disease DOID:3613 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system DOID:3613 Canavan disease OMIM:271900 spongy Degeneration of central nervous system DOID:3613 MONDO:0010087 Sugarman brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly with Major proximal phalangeal shortening brachydactyly with Major proximal phalangeal shortening brachydactyly with major proximal phalangeal shortening DOID:0110979 Sugarman brachydactyly OMIM:272150 brachydactyly with Major proximal phalangeal shortening DOID:0110979 -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Sohar-Crisponi syndrome DOID:0060294 cold-induced sweating syndrome OMIM:272430 Sohar-Crisponi syndrome DOID:0060294 MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cold-induced sweating syndrome 1 DOID:0080329 cold-induced sweating syndrome 1 OMIM:272430, MONDO:Lexical cold-induced sweating syndrome 1 DOID:0080329 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome DOID:0112194 Filippi syndrome OMIM:272440 FILIPPI syndrome DOID:0112194 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym Scott craniodigital syndrome with mental retardation DOID:0112194 Filippi syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:272440 Scott craniodigital syndrome with mental retardation DOID:0112194 @@ -2514,12 +2108,8 @@ MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, type 1 DOID:3320 Tay-Sachs disease GARD:0007737 GM2 gangliosidosis, type 1 DOID:3320 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease DOID:3320 Tay-Sachs disease OMIM:272800 TAY-Sachs disease DOID:3320 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym hexosaminidase a deficiency hexosaminidase a deficiency hexosaminidase A deficiency DOID:3320 Tay-Sachs disease OMIM:272800 hexosaminidase a deficiency DOID:3320 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor DOID:1911 endodermal sinus tumor OMIM:273300 endodermal sinus tumor DOID:1911 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 endodermal sinus tumour DOID:1911 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma DOID:4440 seminoma OMIM:273300 seminoma DOID:4440 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer DOID:5557 testicular germ cell cancer DOID:5557 MONDO:0010108 testicular germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym testicular germ cell neoplasm DOID:5557 testicular germ cell cancer NCIT:C8591, DOID:5557 testicular germ cell neoplasm DOID:5557 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma DOID:5834 spermatocytoma OMIM:273300 spermatocytic seminoma DOID:5834 MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETAMS DOID:0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:273395 TETAMS DOID:0112191 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym iodide peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 iodide peroxidase deficiency DOID:0112186 MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 thyroid peroxidase deficiency DOID:0112186 @@ -2538,26 +2128,14 @@ MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynony MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynonym AARRS DOID:0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009212 AARRS DOID:0112181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency DOID:0112180 urocanase deficiency OMIM:276880, MONDO:Lexical urocanase deficiency DOID:0112180 MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym UROCD DOID:0112180 urocanase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:276880, MONDO:Lexical UROCD DOID:0112180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100, OMIM:277000 MRKH syndrome DOID:0112177 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome OMIM:277000 Mayer-Rokitansky-KUSTER-Hauser syndrome DOID:0112177 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100 Rokitansky syndrome DOID:0112177 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly cleft lip palate psychomotor retardation polydactyly cleft lip palate psychomotor retardation Polydactyly cleft lip palate psychomotor retardation DOID:0060376 Joubert syndrome with orofaciodigital defect GARD:0004412 polydactyly cleft lip palate psychomotor retardation DOID:0060376 -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral absence of vas deferens DOID:0111862 congenital bilateral absence of vas deferens OMIM:genemap2, OMIM:277180 congenital bilateral absence of vas deferens DOID:0111862 -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical CBAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym MAHCF DOID:0050717 methylmalonic aciduria and homocystinuria type cblF http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277380 MAHCF DOID:0050717 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym MAHCC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277400 MAHCC DOID:0050715 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym oio:hasRelatedSynonym MAHCD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277410 MAHCD DOID:0050716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors Orphanet:98434 hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD Vkcfd VKCFD DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450 VKCFD DOID:0112172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD1 DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450, MONDO:Lexical VKCFD1 DOID:0112173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010190 pontocerebellar hypoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym PCH2 Pch2 PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277470 PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome DOID:14731 Weaver syndrome OMIM:277590 WEAVER syndrome DOID:14731 MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym Weaver-like syndrome Weaver-like syndrome WEAVER-LIKE SYNDROME DOID:14731 Weaver syndrome OMIM:277590 Weaver-like syndrome DOID:14731 -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy DOID:2384 Wernicke encephalopathy NCIT:C35764 Wernicke encephalopathy DOID:2384 MONDO:0010200 Wilson disease oio:hasExactSynonym oio:hasRelatedSynonym hepatolenticular Degeneration hepatolenticular Degeneration hepatolenticular degeneration DOID:893 Wilson disease OMIM:277900 hepatolenticular Degeneration DOID:893 -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine dehydrogenase deficiency DOID:0060236 xanthinuria MESH:C562584 xanthine dehydrogenase deficiency DOID:0060236 -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidase deficiency DOID:0060236 xanthinuria MESH:C562584 xanthine oxidase deficiency DOID:0060236 MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSynonym XPE XPe XPE DOID:0110846 xeroderma pigmentosum group E http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:278740 XPE DOID:0110846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal 2 46,XX SEX reversal 2 46,XX sex reversal 2 DOID:0111763 46,XX sex reversal 2 OMIM:278850 46,XX SEX reversal 2 DOID:0111763 MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXX2 DOID:0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:278850 SRXX2 DOID:0111763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2570,7 +2148,6 @@ MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym dos MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXY2 DOID:0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300018 SRXY2 DOID:0111777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010228 hearing loss, X-linked 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNX3 DOID:0111736 X-linked deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300030, MONDO:Lexical DFNX3 DOID:0111736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010238 hearing loss, X-linked 4 oio:hasExactSynonym oio:hasRelatedSynonym DFNX4 DOID:0111735 X-linked deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300066, MONDO:Lexical DFNX4 DOID:0111735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation oio:hasExactSynonym oio:hasRelatedSynonym Double cortex syndrome Double cortex syndrome double cortex syndrome DOID:0111169 subcortical band heterotopia OMIM:300067 Double cortex syndrome DOID:0111169 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMD X-linked DOID:0112150 X-linked spondyloepimetaphyseal dysplasia GARD:0004979 SEMD X-linked DOID:0112150 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMDX DOID:0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300106, GARD:0004979 SEMDX DOID:0112150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010256 intellectual disability, X-linked 21 oio:hasExactSynonym oio:hasRelatedSynonym MRX21 DOID:0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300143 MRX21 DOID:0112022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2579,7 +2156,6 @@ MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS2 DOID:0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300166 MCOPS2 DOID:0111809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 AMME complex OMIM:300194 chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR DOID:0111860 AMME complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 ATS-MR DOID:0111860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010266 intellectual disability, X-linked 58 oio:hasExactSynonym oio:hasRelatedSynonym MRX58 DOID:0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300210 MRX58 DOID:0112024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym Odpf syndrome Odpf syndrome ODPF syndrome DOID:0112149 terminal osseous dysplasia OMIM:300244 Odpf syndrome DOID:0112149 MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal osseous dysplasia DOID:0112149 terminal osseous dysplasia OMIM:300244, MONDO:Lexical terminal osseous dysplasia DOID:0112149 @@ -2596,8 +2172,8 @@ MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:has MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency DOID:1919 Lesch-Nyhan syndrome OMIM:300322 Hprt1 deficiency DOID:1919 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome DOID:0112127 HRPT-related hyperuricemia OMIM:300323 KELLEY-Seegmiller syndrome DOID:0112127 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym oio:hasRelatedSynonym Incontinentia pigmenti achromians Incontinentia pigmenti achromians incontinentia pigmenti achromians DOID:3156 hypomelanosis of Ito OMIM:300337 Incontinentia pigmenti achromians DOID:3156 -MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 +MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 mental retardation, X-linked, syndromic 15 DOID:0060822 MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym ACSL4-related intellectual disability DOID:0112050 non-syndromic X-linked intellectual disability 63 GARD:0005613 ACSL4-related intellectual disability DOID:0112050 MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym MRX63 DOID:0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300387, MONDO:Lexical MRX63 DOID:0112050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related oio:hasExactSynonym oio:hasRelatedSynonym ARX-related intellectual disability DOID:0112021 non-syndromic X-linked intellectual disability ARX-related GARD:0005614 ARX-related intellectual disability DOID:0112021 @@ -2695,7 +2271,6 @@ MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRela MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAX2 Scax2 SCAX2 DOID:0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302600 SCAX2 DOID:0111830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 CMT1X DOID:0110209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHARGE-like syndrome, X-linked DOID:0111826 Abruzzo-Erickson syndrome OMIM:302905 CHARGE-like syndrome, X-linked DOID:0111826 -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis DOID:980 choroidal sclerosis OMIM:303100 choroidal sclerosis DOID:980 MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome DOID:0060246 MASA syndrome DOID:0060246 CRASH syndrome DOID:0060246 MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome OMIM:303600 COFFIN-Lowry syndrome DOID:3783 MONDO:0010570 craniofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniofrontonasal dysostosis DOID:14737 craniofrontonasal syndrome OMIM:304110 craniofrontonasal dysostosis DOID:14737 @@ -2703,7 +2278,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome DOID:0111784 otopalatodigital syndrome type 2 OMIM:304120 faciopalatoosseous syndrome DOID:0111784 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym oto-palato-digital syndrome type 2 DOID:0111784 otopalatodigital syndrome type 2 GARD:0005802 oto-palato-digital syndrome type 2 DOID:0111784 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 DOID:0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 OPD2 DOID:0111784 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS DOID:0111562 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical OHS DOID:0111562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew syndrome DOID:0060800 syndromic X-linked intellectual disability 5 MONDO:Lexical, OMIM:304340 PETTIGREW syndrome DOID:0060800 MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome DOID:0060800 syndromic X-linked intellectual disability 5 DOID:0060800 fried syndrome DOID:0060800 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym Nance deafness DOID:0111737 X-linked deafness 2 Orphanet:383, OMIM:304400 Nance deafness DOID:0111737 @@ -2712,16 +2286,6 @@ MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExact MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym X-linked mixed conductive and sensorineural deafness DOID:0111737 X-linked deafness 2 Orphanet:383 X-linked mixed conductive and sensorineural deafness DOID:0111737 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym conductive deafness with stapes fixation DOID:0111737 X-linked deafness 2 Orphanet:383 conductive deafness with stapes fixation DOID:0111737 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasRelatedSynonym DFN3 DOID:0111737 X-linked deafness 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004504 DFN3 DOID:0111737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym central hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.14, DOID:10003 central hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency deafness high frequency deafness High frequency deafness DOID:10003 sensorineural hearing loss DOID:10003 high frequency deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency hearing loss high frequency hearing loss High Frequency Hearing Loss DOID:10003 sensorineural hearing loss DOID:10003, NCIT:C34663 high frequency hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high-frequency hearing loss DOID:10003 sensorineural hearing loss DOID:10003 high-frequency hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive deafness perceptive deafness Perceptive deafness DOID:10003 sensorineural hearing loss DOID:10003 perceptive deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss perceptive hearing loss Perceptive hearing loss DOID:10003 sensorineural hearing loss DOID:10003 perceptive hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss or deafness perceptive hearing loss or deafness Perceptive hearing loss or deafness DOID:10003 sensorineural hearing loss DOID:10003 perceptive hearing loss or deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural deafness sensorineural deafness Sensorineural Deafness DOID:10003 sensorineural hearing loss NCIT:C26739, DOID:10003 sensorineural deafness DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural hearing loss DOID:10003 sensorineural hearing loss MONDO:ambiguous sensorineural hearing loss DOID:10003 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensory hearing loss sensory hearing loss Sensory hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.11, DOID:10003 sensory hearing loss DOID:10003 MONDO:0010577 hearing loss, X-linked 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNX1 DOID:0111739 X-linked deafness 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304500 DFNX1 DOID:0111739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome DOID:0050757 deafness-dystonia-optic neuronopathy syndrome OMIM:304700, MONDO:Lexical MOHR-Tranebjaerg syndrome DOID:0050757 MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:Lexical, OMIM:304790 IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked DOID:0090110 @@ -2733,9 +2297,6 @@ MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym XLHED Xlhed XLHED DOID:0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305100 XLHED DOID:0111664 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVRX Evrx EVRX DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390 EVRX DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical EVR2 DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome Orphanet:915 Aarskog syndrome DOID:0111824 -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome DOID:0111824 Aarskog syndrome MESH:C535331, OMIM:305400, Orphanet:915 faciodigitogenital syndrome DOID:0111824 -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome Orphanet:915, MESH:C535331, OMIM:305400 faciogenital dysplasia DOID:0111824 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome OMIM:305400, MESH:C535331, MONDO:Lexical Aarskog-Scott syndrome DOID:6683 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FODH Fodh FODH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305600 FODH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2745,16 +2306,12 @@ MONDO:0010615 isolated growth hormone deficiency type III oio:hasExactSynonym oi MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym oio:hasRelatedSynonym HYPX DOID:0111388 X-linked hypoparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307700 HYPX DOID:0111388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia DOID:0050445 X-linked dominant hypophosphatemic rickets DOID:0050445 X-linked hypophosphatemia DOID:0050445 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency DOID:0060022 CD40 ligand deficiency NCIT:C61244 CD40 ligand deficiency DOID:0060022 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome DOID:0080544 hyper IgM syndrome GARD:0000073 hyper IgM syndrome DOID:0080544 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym HIGM DOID:0080544 hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 HIGM DOID:0080544 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym X-linked hyper IgM syndrome DOID:6620 X-linked hyper IgM syndrome GARD:0000073 X-linked hyper IgM syndrome DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM syndrome 1 DOID:6620 X-linked hyper IgM syndrome OMIM:308230 hyper-IgM syndrome 1 DOID:6620 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym XHIM DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 XHIM DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative syndrome 1 DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 DOID:0060705 X-linked lymphoproliferative syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 XLP1 DOID:0060705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS DOID:0060473 Kabuki syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 KMS DOID:0060473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym dysplasia Olfactogenitalis of De Morsier dysplasia Olfactogenitalis of De Morsier dysplasia olfactogenitalis of de morsier DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 dysplasia Olfactogenitalis of De Morsier DOID:0090094 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis spinulosa decalvans DOID:0080753 keratosis follicularis spinulosa decalvans MESH:C536159 keratosis follicularis spinulosa decalvans DOID:0080753 MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell Leukemia DOID:12603 acute leukemia NCIT:C9298, DOID:12603 stem cell leukemia DOID:12603 MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukaemia stem cell leukaemia Stem cell leukaemia DOID:12603 acute leukemia http://purl.obolibrary.org/obo/OMO_0003005 stem cell leukaemia DOID:12603 MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 DOID:0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical SPGFX2 DOID:0070185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2767,12 +2324,10 @@ MONDO:0010659 FRAXE intellectual disability oio:hasExactSynonym oio:hasRelatedSy MONDO:0010660 intellectual disability, X-linked 9 oio:hasExactSynonym oio:hasRelatedSynonym MRX9 DOID:0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309549, MONDO:Lexical MRX9 DOID:0112034 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation Gustavson type DOID:0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0005611 X-linked mental retardation Gustavson type DOID:0081123 MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion DOID:0111813 syndactyly type 8 OMIM:309630, MONDO:Lexical metacarpal 4-5 fusion DOID:0111813 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical linear skin defects with multiple congenital anomalies 1 DOID:0111808 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 DOID:0111225 centronuclear myopathy X-linked OMIM:310400 myotubular myopathy 1 DOID:0111225 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX DOID:0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 CNMX DOID:0111225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis 1 DOID:0111798 X-linked nephrolithiasis type I OMIM:310468 nephrolithiasis 1 DOID:0111798 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym XRN DOID:0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310468 XRN DOID:0111798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010690 congenital stationary night blindness 1A oio:hasExactSynonym oio:hasRelatedSynonym nyctalopia DOID:8499 night blindness OMIM:310500 nyctalopia DOID:8499 MONDO:0010693 nystagmus 1, congenital, X-linked oio:hasExactSynonym oio:hasRelatedSynonym NYS1 DOID:0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:310700, MONDO:Lexical NYS1 DOID:0111790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym FMR1-related primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 FMR1-related primary ovarian insufficiency DOID:0080857 MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 fragile X-associated primary ovarian insufficiency DOID:0080857 @@ -2783,7 +2338,6 @@ MONDO:0010712 panhypopituitarism, X-linked oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym complement Factor properdin deficiency complement Factor properdin deficiency complement factor properdin deficiency DOID:0111768 X-linked properdin deficiency OMIM:312060 complement Factor properdin deficiency DOID:0111768 MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym CFPD DOID:0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312060, MONDO:Lexical CFPD DOID:0111768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym X-linked juvenile retinoschisis 1 DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked oio:hasExactSynonym oio:hasRelatedSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004985 SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis DOID:0111767 X-linked thrombocytopenia with beta-thalassemia OMIM:314050 thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis DOID:0111767 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym VACTERLX DOID:0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:314390 VACTERLX DOID:0111766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010763 spermatogenic failure, Y-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym SPGFY1 DOID:0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:400042, MONDO:Lexical SPGFY1 DOID:0070186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2792,7 +2346,6 @@ MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym Marsden syndrome DOID:0111755 Leber hereditary optic neuropathy and dystonia OMIM:500001 Marsden syndrome DOID:0111755 MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym LDYT DOID:0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0008476 LDYT DOID:0111755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 oio:hasExactSynonym oio:hasRelatedSynonym MLASA3 DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:500011, MONDO:Lexical MLASA3 DOID:0111184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Cytopathy mitochondrial Cytopathy mitochondrial cytopathy DOID:699 mitochondrial myopathy OMIM:530000 mitochondrial Cytopathy DOID:699 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome GARD:0000347 congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis and congenital heart defects DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome OMIM:600001 pancreatic agenesis and congenital heart defects DOID:0111733 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym HDCA DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600001, MONDO:Lexical HDCA DOID:0111733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2807,7 +2360,6 @@ MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynony MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A OMIM:600101 autosomal dominant nonsyndromic deafness 2A DOID:0110558 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym DFNA2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600101, DOID:0110558, MONDO:Lexical DFNA2A DOID:0110558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 Parkinson's disease 2 DOID:0060368 autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 -MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome DOID:0060237 Warburg micro syndrome OMIM:600118 micro syndrome DOID:0060237 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 Warburg micro syndrome 1 DOID:0110716 Warburg micro syndrome 1 OMIM:600118 WARBURG micro syndrome 1 DOID:0110716 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853 AGPS deficiency DOID:0110853 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym alkyldihydroxyacetonephosphate synthase deficiency alkyldihydroxyacetonephosphate synthase deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853, OMIM:600121 alkyldihydroxyacetonephosphate synthase deficiency DOID:0110853 @@ -2818,10 +2370,6 @@ MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSy MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia 2 DOID:0070298 multiple epiphyseal dysplasia 2 GARD:0009791 multiple epiphyseal dysplasia 2 DOID:0070298 MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDM2 DOID:0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600204 EDM2 DOID:0070298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010849 palmoplantar keratoderma, Bothnian type oio:hasExactSynonym oio:hasRelatedSynonym PPKB DOID:0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600231 PPKB DOID:0111707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia FRONTOTEMPORAL DEMENTIA DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:Lexical, OMIM:600274 frontotemporal dementia DOID:0111227 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym Pallidopontonigral Degeneration Pallidopontonigral Degeneration pallidopontonigral degeneration DOID:9255 frontotemporal dementia OMIM:600274 Pallidopontonigral Degeneration DOID:9255 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia DOID:9255 frontotemporal dementia MONDO:Lexical, OMIM:600274 frontotemporal dementia DOID:9255 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym multiple system tauopathy with presenile dementia DOID:9255 frontotemporal dementia OMIM:600274 multiple system tauopathy with presenile dementia DOID:9255 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 DOID:0110488 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 OMIM:600316 autosomal recessive nonsyndromic deafness 3 DOID:0110488 MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNB3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110488, MONDO:Lexical, OMIM:600316 DFNB3 DOID:0110488 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2840,7 +2388,6 @@ MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym lo MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A DOID:0110573 autosomal dominant deafness 4A DOID:0110573 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A OMIM:600652 autosomal dominant nonsyndromic deafness 4A DOID:0110573 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym DFNA4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110573, MONDO:Lexical, OMIM:600652 DFNA4A DOID:0110573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical D-2-hydroxyglutaric aciduria 1 DOID:0111351 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 autosomal recessive nonsyndromic deafness 4 DOID:0110498 autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 OMIM:600791 autosomal recessive nonsyndromic deafness 4 DOID:0110498 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym DFNB4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110498, MONDO:Lexical, OMIM:600791 DFNB4 DOID:0110498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2878,8 +2425,6 @@ MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 DOID:0110575 autosomal dominant deafness 5 DOID:0110575 MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 OMIM:600994 autosomal dominant nonsyndromic deafness 5 DOID:0110575 MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNA5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110575, OMIM:600994, MONDO:Lexical DFNA5 DOID:0110575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 DOID:0110649 long QT syndrome 8 OMIM:601005 long QT syndrome 8 DOID:0110649 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 DOID:0110649 long QT syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 DOID:0110649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010985 epilepsy, familial adult myoclonic, 1 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 1 DOID:0111690 familial adult myoclonic epilepsy 1 OMIM:601068 benign adult familial myoclonic epilepsy 1 DOID:0111690 MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 DOID:0110535 autosomal recessive deafness 9 DOID:0110535 MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 OMIM:601071 autosomal recessive nonsyndromic deafness 9 DOID:0110535 @@ -2898,7 +2443,6 @@ MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oio:hasExactSynony MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYME-Gripp syndrome AYME-Gripp syndrome Ayme-Gripp syndrome DOID:0111688 Ayme-Gripp syndrome OMIM:601088 AYME-Gripp syndrome DOID:0111688 MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601088 cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation DOID:0111688 MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYGRP DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601088 AYGRP DOID:0111688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym sudden unexplained nocturnal death syndrome DOID:0050451 Brugada syndrome OMIM:601144 sudden unexplained nocturnal death syndrome DOID:0050451 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 syndromic microphthalmia 9 OMIM:601186 anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 syndromic microphthalmia 9 GARD:0000713 clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 syndromic microphthalmia 9 GARD:0000713 pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 @@ -2918,8 +2462,6 @@ MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia diffuse cystic DOID:0111682 diffuse cystic renal dysplasia GARD:0004658 renal dysplasia diffuse cystic DOID:0111682 MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym CYSRD DOID:0111682 diffuse cystic renal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601331, MONDO:Lexical CYSRD DOID:0111682 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome DOID:0081441 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome DOID:0081441 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS DOID:7400 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS DOID:7400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction DOID:3526 cerebral infarction OMIM:601367 cerebral infarction DOID:3526 MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke DOID:6713 cerebrovascular disease DOID:6713 stroke DOID:6713 MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA DOID:6713 cerebrovascular disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 CVA DOID:6713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 9 DOID:0110593 autosomal dominant nonsyndromic deafness 9 DOID:0110593 autosomal dominant deafness 9 DOID:0110593 @@ -2943,13 +2485,10 @@ MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynony MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A OMIM:601544 autosomal dominant nonsyndromic deafness 3A DOID:0110564 MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym DFNA3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110564, OMIM:601544, MONDO:Lexical DFNA3A DOID:0110564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD1 DOID:0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601675, MONDO:Lexical TTD1 DOID:0111873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym Tay syndrome DOID:2960 photosensitive trichothiodystrophy OMIM:601675 Tay syndrome DOID:2960 -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy OMIM:601675 trichothiodystrophy with congenital ichthyosis DOID:2960 MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 18Q- syndrome 18Q- syndrome 18q- syndrome DOID:0060407 chromosome 18q deletion syndrome OMIM:601808 18Q- syndrome DOID:0060407 MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 DOID:0111411 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical EVR4 DOID:0111411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 DOID:0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical HHF2 DOID:0070218 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis DOID:13317 hyperinsulinemic hypoglycemia OMIM:601820 nesidioblastosis DOID:13317 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 DOID:0110545 autosomal dominant deafness 13 DOID:0110545 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 OMIM:601868 autosomal dominant nonsyndromic deafness 13 DOID:0110545 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNA13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110545, OMIM:601868, MONDO:Lexical DFNA13 DOID:0110545 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -2961,7 +2500,6 @@ MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynon MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB72 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 DFNB72 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB95 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 DFNB95 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011162 cataract 14 multiple types oio:hasNarrowSynonym oio:hasRelatedSynonym CAE3 Cae3 CAE3 DOID:0110253 cataract 14 multiple types http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601885 CAE3 DOID:0110253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011176 intestinal hypomagnesemia 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMG Homg HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602014 HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011177 ectodermal dysplasia 4, hair/nail type oio:hasExactSynonym oio:hasRelatedSynonym ECTD4 DOID:0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602032 ECTD4 DOID:0111658 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym articulatory apraxia DOID:0111275 speech-language disorder-1 GARD:0012889 articulatory apraxia DOID:0111275 MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym developmental apraxia of speech DOID:0111275 speech-language disorder-1 GARD:0012889 developmental apraxia of speech DOID:0111275 @@ -2970,7 +2508,6 @@ MONDO:0011190 nephronophthisis 2 oio:hasExactSynonym oio:hasRelatedSynonym NPH2 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A DOID:0110473 autosomal recessive deafness 18A DOID:0110473 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A OMIM:602092 autosomal recessive nonsyndromic deafness 18A DOID:0110473 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym DFNB18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110473, OMIM:602092 DFNB18A DOID:0110473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy DOID:0050795 cone dystrophy OMIM:602093 retinal cone dystrophy DOID:0050795 MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy 14 DOID:0080314 cone-rod dystrophy 14 OMIM:602093 cone-rod dystrophy 14 DOID:0080314 MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer's disease 5 DOID:0110037 Alzheimer's disease 5 DOID:0110037 Alzheimer's disease 5 DOID:0110037 MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym AD5 Ad5 AD5 DOID:0110037 Alzheimer's disease 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602096 AD5 DOID:0110037 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3056,7 +2593,6 @@ MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio: MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 DOID:0110547 autosomal dominant deafness 16 DOID:0110547 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 OMIM:603964 autosomal dominant nonsyndromic deafness 16 DOID:0110547 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 DFNA16 DOID:0110547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts oio:hasExactSynonym oio:hasRelatedSynonym megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004, MONDO:Lexical megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 DOID:0110478 autosomal recessive deafness 20 DOID:0110478 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 OMIM:604060 autosomal recessive nonsyndromic deafness 20 DOID:0110478 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNB20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604060, DOID:0110478, MONDO:Lexical DFNB20 DOID:0110478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3064,7 +2600,6 @@ MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRe MONDO:0011414 Peters anomaly oio:hasExactSynonym oio:hasRelatedSynonym anterior segment dysgenesis 5 DOID:0080610 anterior segment dysgenesis 5 OMIM:604229 anterior segment dysgenesis 5 DOID:0080610 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP1 DOID:0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604233, MONDO:Lexical GEFSP1 DOID:0111302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E oio:hasExactSynonym oio:hasBroadSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E Orphanet:119, DOID:0110279 beta-sarcoglycanopathy DOID:0110279 -MONDO:0011426 aceruloplasminemia oio:hasExactSynonym oio:hasBroadSynonym cerebellar ataxia DOID:0050753 cerebellar ataxia OMIM:genemap2, OMIM:604290 cerebellar ataxia DOID:0050753 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym acute juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 acute juvenile rheumatoid arthritis DOID:676 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis DOID:676 juvenile rheumatoid arthritis DOID:676 juvenile chronic polyarthritis DOID:676 MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym monarticular juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 monarticular juvenile rheumatoid arthritis DOID:676 @@ -3076,11 +2611,9 @@ MONDO:0011437 microcephaly 4, primary, autosomal recessive oio:hasExactSynonym o MONDO:0011443 febrile seizures, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FEB4 DOID:0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604352 FEB4 DOID:0111305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011448 PPARG-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy associated with PPARG mutations DOID:0070204 familial partial lipodystrophy type 3 GARD:0012600 familial partial lipodystrophy associated with PPARG mutations DOID:0070204 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym NPH3 Nph3 NPH3 DOID:0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604387 NPH3 DOID:0111114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:genemap2, OMIM:604393 cone-rod dystrophy DOID:0050572 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 DOID:0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 GEFSP2 DOID:0111294 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 PAPA syndrome GARD:0009176 pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Soldiers heart Soldiers heart soldiers heart DOID:0111154 postural orthostatic tachycardia syndrome OMIM:604715 Soldiers heart DOID:0111154 -MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym neurocirculatory asthenia DOID:11569 neurocirculatory asthenia OMIM:604715, DOID:0111154 neurocirculatory asthenia DOID:11569 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 DOID:0110550 autosomal dominant deafness 20 DOID:0110550 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 OMIM:604717 autosomal dominant nonsyndromic deafness 20 DOID:0110550 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNA20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110550, OMIM:604717, MONDO:Lexical DFNA20 DOID:0110550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3165,7 +2698,6 @@ MONDO:0011716 acute hemorrhagic leukoencephalitis oio:hasExactSynonym oio:hasRel MONDO:0011717 hyperinsulinism-hyperammonemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym HHF6 DOID:0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606762, MONDO:Lexical HHF6 DOID:0070217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym oio:hasRelatedSynonym SPGF3 DOID:0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606766 SPGF3 DOID:0070168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011721 distal myopathy with anterior tibial onset oio:hasExactSynonym oio:hasRelatedSynonym DMAT DOID:0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606768 DMAT DOID:0111187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome MESH:C536830 glucose transporter type 1 deficiency syndrome DOID:0070560 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome 1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1 deficiency syndrome 1 DOID:0070561 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1DS1 DOID:0070561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011730 fumaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym FMRD DOID:0111261 fumarase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606812 FMRD DOID:0111261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3192,7 +2724,6 @@ MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynon MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 dHMN3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN4 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 dHMN4 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607091 CDG IId DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 DOID:0050640 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 anauxetic dysplasia 1 DOID:0050640 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 DOID:0110489 autosomal recessive deafness 30 DOID:0110489 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 OMIM:607101 autosomal recessive nonsyndromic deafness 30 DOID:0110489 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 DFNB30 DOID:0110489 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3202,7 +2733,6 @@ MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym Perenia MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym atopic rhinitis DOID:4481 allergic rhinitis DOID:4481 atopic rhinitis DOID:4481 MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 non-seasonal allergic rhinitis DOID:4481 MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 seasonal allergic rhinitis DOID:4481 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma OMIM:genemap2, OMIM:607174 meningioma DOID:3565 MONDO:0011792 thyroid dyshormonogenesis 6 oio:hasExactSynonym oio:hasRelatedSynonym TDH6 DOID:0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607200 TDH6 DOID:0112189 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 DOID:0110492 autosomal recessive deafness 33 DOID:0110492 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 OMIM:607239 autosomal recessive nonsyndromic deafness 33 DOID:0110492 @@ -3211,7 +2741,6 @@ MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS DOID:0110116 autoimmune lymphoproliferative syndrome type 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 CEDS DOID:0110116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 24 DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 spinocerebellar ataxia 24 DOID:0111611 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic intrusions DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 spinocerebellar ataxia with saccadic Intrusions DOID:0111611 -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 Smith-McCort dysplasia DOID:0060247 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 Smith-McCort dysplasia 1 DOID:0081270 Smith-McCort dysplasia 1 OMIM:607326 SMITH-McCort dysplasia 1 DOID:0081270 MONDO:0011821 Meckel syndrome, type 3 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 DOID:0070117 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym CoQ deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 CoQ deficiency 1 DOID:0070238 @@ -3219,8 +2748,6 @@ MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRel MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym coenzyme Q deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 coenzyme Q deficiency 1 DOID:0070238 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym ubiquinone deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 ubiquinone deficiency 1 DOID:0070238 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym COQ10D1 DOID:0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607426, MONDO:Lexical COQ10D1 DOID:0070238 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 subcortical band heterotopia DOID:0111169 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 subcortical laminar heterotopia DOID:0111169 MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym lissencephaly 1 DOID:0112237 lissencephaly 1 MONDO:Lexical, OMIM:607432 lissencephaly 1 DOID:0112237 MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym LIS1 DOID:0112237 lissencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607432, MONDO:Lexical LIS1 DOID:0112237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 44 DOID:0110569 autosomal dominant nonsyndromic deafness 44 DOID:0110569 autosomal dominant deafness 44 DOID:0110569 @@ -3230,9 +2757,6 @@ MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, AVELLINO type corneal dystrophy, AVELLINO type corneal dystrophy, Avellino type DOID:0060444 granular corneal dystrophy 2 OMIM:607541, MONDO:Lexical corneal dystrophy, AVELLINO type DOID:0060444 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym SmD with bowed forearms and Facial Dysmorphism SmD with bowed forearms and Facial Dysmorphism SMD with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 SmD with bowed forearms and Facial Dysmorphism DOID:0112305 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1 Pch1 PCH1 DOID:0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596 PCH1 DOID:0112322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID syndrome DOID:0060833 Griscelli syndrome type 2 OMIM:607624 Paid syndrome DOID:0060833 MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C2 DOID:0070114 Niemann-Pick disease type C2 GARD:0003992 Niemann-Pick disease type C2 DOID:0070114 MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym oio:hasRelatedSynonym DHMN7B Dhmn7B DHMN7B DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607641 DHMN7B DOID:0111202 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3240,9 +2764,6 @@ MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 oio:hasExactSynonym oio:hasRelatedSynonym EIG9 DOID:0111323 idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607682 EIG9 DOID:0111323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 dentoleukoencephalopathy DOID:0060794 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 -MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 congenital bile acid synthesis defect OMIM:607765 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia DOID:0080188 chronic myelomonocytic leukemia NCIT:C9233 chronic myelomonocytic leukemia DOID:0080188 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D oio:hasExactSynonym oio:hasRelatedSynonym DI-CMTD Di-Cmtd DI-CMTD DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607791 DI-CMTD DOID:0110200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 DOID:0110495 autosomal recessive deafness 37 DOID:0110495 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 OMIM:607821 autosomal recessive nonsyndromic deafness 37 DOID:0110495 @@ -3255,7 +2776,6 @@ MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 oio:hasExactSynony MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasRelatedSynonym oio:hasExactSynonym subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome Orphanet:1606, DOID:0060410 subtelomeric 1p36 deletion DOID:0060410 MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 2 DOID:0111692 familial adult myoclonic epilepsy 2 OMIM:607876 benign adult familial myoclonic epilepsy 2 DOID:0111692 MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FAME2 DOID:0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607876 FAME2 DOID:0111692 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym oio:hasRelatedSynonym macular Degeneration macular Degeneration macular degeneration DOID:4448 macular degeneration OMIM:607921 macular Degeneration DOID:4448 MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 syndromic microphthalmia 6 GARD:0003645 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia and pituitary anomalies DOID:0111805 syndromic microphthalmia 6 OMIM:607932 microphthalmia and pituitary anomalies DOID:0111805 MONDO:0011937 peeling skin syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis bullosa of Siemens-like DOID:0070523 peeling skin syndrome 4 OMIM:607936 ichthyosis bullosa of Siemens-like DOID:0070523 @@ -3276,7 +2796,6 @@ MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 oio:hasExactSynon MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 DOID:0110567 autosomal dominant deafness 41 DOID:0110567 MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 OMIM:608224 autosomal dominant nonsyndromic deafness 41 DOID:0110567 MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym DFNA41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608224, DOID:0110567 DFNA41 DOID:0110567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive oio:hasRelatedSynonym oio:hasExactSynonym CML DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3174, MONDO:Lexical, DOID:8552, OMIM:608232, Orphanet:521 CML DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 DOID:0110499 autosomal recessive deafness 40 DOID:0110499 MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 OMIM:608264 autosomal recessive nonsyndromic deafness 40 DOID:0110499 MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym DFNB40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110499, MONDO:Lexical, OMIM:608264 DFNB40 DOID:0110499 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3300,9 +2819,6 @@ MONDO:0012029 microcephaly 6, primary, autosomal recessive oio:hasExactSynonym o MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 DOID:0110568 autosomal dominant deafness 43 DOID:0110568 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 OMIM:608394 autosomal dominant nonsyndromic deafness 43 DOID:0110568 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym DFNA43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110568, MONDO:Lexical, OMIM:608394 DFNA43 DOID:0110568 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym clinical depression DOID:1470 major depressive disorder DOID:1595 clinical depression DOID:1470 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder DOID:1470 major depressive disorder MONDO:Lexical, OMIM:608516 major depressive disorder DOID:1470 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression DOID:1470 major depressive disorder OMIM:608516, DOID:1595 unipolar depression DOID:1470 MONDO:0012054 schizophrenia 12 oio:hasExactSynonym oio:hasRelatedSynonym SCZD12 Sczd12 SCZD12 DOID:0070088 schizophrenia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608543 SCZD12 DOID:0070088 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 DOID:0110493 autosomal recessive deafness 35 DOID:0110493 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 OMIM:608565 autosomal recessive nonsyndromic deafness 35 DOID:0110493 @@ -3330,7 +2846,6 @@ MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSynonym MCDR3 DOID:0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608850 MCDR3 DOID:0070440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HLH3 Hlh3 HLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 HLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HPLH3 Hplh3 HPLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 HPLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome 1B DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 MONDO:0012157 congenital myasthenic syndrome 4C oio:hasExactSynonym oio:hasRelatedSynonym CMS Id Cms Id CMS Id DOID:0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608931 CMS Id DOID:0110679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy OMIM:608940, MONDO:Lexical spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 @@ -3417,8 +2932,6 @@ MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:has MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 DOID:0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 HHF4 DOID:0070215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 DOID:0111967 immunodeficiency 54 OMIM:609981 immunodeficiency 54 DOID:0111967 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD54 DOID:0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609981 IMD54 DOID:0111967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym neuronal ceroid lipofuscinosis 8 DOID:0110723 neuronal ceroid lipofuscinosis 8 GARD:0004010 neuronal ceroid lipofuscinosis 8 DOID:0110723 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 DOID:0110723 neuronal ceroid lipofuscinosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 CLN8 DOID:0110723 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital glutamine deficiency DOID:0070544 congenital glutamine deficiency GARD:0009848 congenital glutamine deficiency DOID:0070544 MONDO:0012396 exercise-induced hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym HHF7 DOID:0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610021, MONDO:Lexical HHF7 DOID:0070214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012400 cortical dysplasia-focal epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTHSL1 DOID:0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610042 PTHSL1 DOID:0090130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3611,7 +3124,6 @@ MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExa MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD4 DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612998, MONDO:Lexical EDMD4 DOID:0070249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 5, autosomal dominant EMERY-Dreifuss muscular dystrophy 5, autosomal dominant Emery-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 OMIM:612999 EMERY-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD5 DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612999, MONDO:Lexical EDMD5 DOID:0070250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym focal nonepidermolytic palmoplantar keratoderma DOID:0111708 focal nonepidermolytic palmoplantar keratoderma OMIM:613000 focal nonepidermolytic palmoplantar keratoderma DOID:0111708 MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym FNEPPK1 DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613000 FNEPPK1 DOID:0111709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 2 biliary cirrhosis, primary, 2 BILIARY CIRRHOSIS, PRIMARY, 2 DOID:0070359 primary biliary cholangitis 2 OMIM:613007, MONDO:Lexical biliary cirrhosis, primary, 2 DOID:0070359 MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym PBC2 DOID:0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613007, MONDO:Lexical PBC2 DOID:0070359 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3742,7 +3254,6 @@ MONDO:0013492 alopecia-intellectual disability syndrome 3 oio:hasExactSynonym oi MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 IMD51 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym CANDF5 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953, MONDO:Lexical CANDF5 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 DOID:0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 SPGF8 DOID:0070169 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013506 schizophrenia 16 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7Q36.3 Duplication syndrome, 362-Kb chromosome 7Q36.3 Duplication syndrome, 362-Kb Chromosome 7q36.3 Duplication Syndrome, 362-Kb DOID:0070093 schizophrenia 18 OMIM:613959 chromosome 7Q36.3 Duplication syndrome, 362-Kb DOID:0070093 MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDG3 DOID:0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613960 CDG3 DOID:0070194 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013509 intellectual disability, autosomal dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 autosomal dominant intellectual developmental disorder 6 DOID:0070036 autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 MONDO:0013512 hemoglobin H disease oio:hasExactSynonym oio:hasRelatedSynonym HEMOGLOBIN H disease HEMOGLOBIN H disease hemoglobin H disease DOID:0110031 hemoglobin H disease OMIM:613978 HEMOGLOBIN H disease DOID:0110031 @@ -3762,7 +3273,6 @@ MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynon MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym oio:hasNarrowSynonym DFNB29 DOID:0110487 autosomal recessive nonsyndromic deafness 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110487, OMIM:614035 DFNB29 DOID:0110487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement oio:hasExactSynonym oio:hasRelatedSynonym MPD4 DOID:0111190 distal myopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614065 MPD4 DOID:0111190 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013554 psoriasis 13, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym PSORS13 DOID:0111287 psoriasis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614070, MONDO:Lexical PSORS13 DOID:0111287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 MONDO:0013570 combined oxidative phosphorylation defect type 8 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 8 DOID:0111479 combined oxidative phosphorylation deficiency 8 MONDO:Lexical, OMIM:614096 combined oxidative phosphorylation deficiency 8 DOID:0111479 MONDO:0013573 cranioectodermal dysplasia 3 oio:hasExactSynonym oio:hasRelatedSynonym CRANIOECTODERMAL dysplasia 3 CRANIOECTODERMAL dysplasia 3 cranioectodermal dysplasia 3 DOID:0080805 cranioectodermal dysplasia 3 OMIM:614099 CRANIOECTODERMAL dysplasia 3 DOID:0080805 MONDO:0013578 DYRK1A-related intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 autosomal dominant intellectual developmental disorder 7 DOID:0070037 autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 @@ -3786,7 +3296,6 @@ MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD2 DOID:0111726 geleophysic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614185 GPHYSD2 DOID:0111726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 oio:hasExactSynonym oio:hasRelatedSynonym PPNAD3 DOID:0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614190 PPNAD3 DOID:0070548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013625 Parkinson disease 17 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson's disease 17 DOID:0060897 Parkinson's disease 17 DOID:0060897 Parkinson's disease 17 DOID:0060897 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis DOID:4398 pustulosis of palm and sole OMIM:614204 palmoplantar pustulosis DOID:4398 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 OMIM:614207 glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS3 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614207 HPMRS3 DOID:0070435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 33 DOID:0110562 autosomal dominant nonsyndromic deafness 33 DOID:0110562 autosomal dominant deafness 33 DOID:0110562 @@ -3871,7 +3380,6 @@ MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym a MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym LDS4 DOID:0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614816 LDS4 DOID:0070233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus spermatogenic failure with defective sperm annulus Spermatogenic failure with defective sperm annulus DOID:0070178 spermatogenic failure 10 OMIM:614822 spermatogenic failure with defective sperm annulus DOID:0070178 MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 DOID:0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical SPGF10 DOID:0070178 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis DOID:1712 aortic valve stenosis OMIM:614823 aortic valve stenosis DOID:1712 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA8 DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614830, MONDO:Lexical MDDGA8 DOID:0111231 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013923 microcephaly 9, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH9 DOID:0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614852 MCPH9 DOID:0070292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 98 DOID:0110540 autosomal recessive nonsyndromic deafness 98 DOID:0110540 autosomal recessive deafness 98 DOID:0110540 @@ -3942,7 +3450,6 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:h MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 56 DOID:0111982 immunodeficiency 56 OMIM:615207 immunodeficiency 56 DOID:0111982 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMD56 DOID:0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615207 IMD56 DOID:0111982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014087 Smith-McCort dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 2 SMITH-McCort dysplasia 2 Smith-McCort dysplasia 2 DOID:0081271 Smith-McCort dysplasia 2 OMIM:615222 SMITH-McCort dysplasia 2 DOID:0081271 -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:615232 schizoaffective disorder DOID:5418 MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA12 DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615249 MDDGA12 DOID:0111235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268, MONDO:Lexical CAMRQ4 DOID:0070559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -3995,7 +3502,6 @@ MONDO:0014242 van Maldergem syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0014245 Diamond-Blackfan anemia 12 oio:hasExactSynonym oio:hasRelatedSynonym DBA12 DOID:0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615550 DBA12 DOID:0111882 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014246 episodic pain syndrome, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym FEPS2 DOID:0111730 familial episodic pain syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615551 FEPS2 DOID:0111730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement oio:hasExactSynonym oio:hasRelatedSynonym FEPS3 DOID:0111731 familial episodic pain syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615552 FEPS3 DOID:0111731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasBroadSynonym hypobetalipoproteinemia DOID:1390 hypobetalipoproteinemia OMIM:615558, OMIM:genemap2 hypobetalipoproteinemia DOID:1390 MONDO:0014259 neuronopathy, distal hereditary motor, type 2D oio:hasExactSynonym oio:hasRelatedSynonym HMN2D DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615575, MONDO:Lexical HMN2D DOID:0111210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 18 DOID:0111484 combined oxidative phosphorylation deficiency 18 MONDO:Lexical, OMIM:615578 combined oxidative phosphorylation deficiency 18 DOID:0111484 MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym COXPD18 DOID:0111484 combined oxidative phosphorylation deficiency 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615578, MONDO:Lexical COXPD18 DOID:0111484 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4027,7 +3533,6 @@ MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oi MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oio:hasRelatedSynonym MPXPS DOID:0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615673, MONDO:Lexical MPXPS DOID:0111335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 20 DOID:0111941 immunodeficiency 20 OMIM:615707, MONDO:Lexical immunodeficiency 20 DOID:0111941 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym IMD20 DOID:0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615707 IMD20 DOID:0111941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615716 HPMRS4 DOID:0070437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse oio:hasExactSynonym oio:hasRelatedSynonym PPKNEFD DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615735 PPKNEFD DOID:0111710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 22 DOID:0111937 immunodeficiency 22 OMIM:615758, MONDO:Lexical immunodeficiency 22 DOID:0111937 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD22 DOID:0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615758 IMD22 DOID:0111937 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4062,7 +3567,6 @@ MONDO:0014399 ataxia-telangiectasia-like disorder 2 oio:hasExactSynonym oio:hasR MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym Miura type epiphyseal chondrodysplasia DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym ECDM DOID:0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615923 ECDM DOID:0070316 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome XIV DOID:0060958 orofaciodigital syndrome XIV MONDO:Lexical, OMIM:615948 orofaciodigital syndrome XIV DOID:0060958 -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:615954 primary macronodular adrenal hyperplasia DOID:0111622 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 AIMAH2 DOID:0111624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014418 myopathy, centronuclear, 5 oio:hasExactSynonym oio:hasRelatedSynonym CNM5 DOID:0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615959, MONDO:Lexical CNM5 DOID:0111222 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD26 DOID:0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615966 IMD26 DOID:0111961 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4070,7 +3574,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 OMIM:615974 autosomal recessive nonsyndromic deafness 102 DOID:0110463 MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym DFNB102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110463, OMIM:615974, MONDO:Lexical DFNB102 DOID:0110463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy type 6 DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome DOID:1935 Bardet-Biedl syndrome GARD:0000821 Bardet-Biedl syndrome DOID:1935 MONDO:0014453 immunodeficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym IMD36 DOID:0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616005 IMD36 DOID:0111949 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCN6 DOID:0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616022, MONDO:Lexical SCN6 DOID:0112134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 @@ -4125,7 +3628,6 @@ MONDO:0014571 optic atrophy 9 oio:hasExactSynonym oio:hasRelatedSynonym OPA9 D MONDO:0014572 Lichtenstein-Knorr syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia 19 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 PLACK syndrome MONDO:Lexical, OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 MONDO:0014580 intellectual disability, autosomal dominant 33 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 autosomal dominant intellectual developmental disorder 33 DOID:0070063 autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 -MONDO:0014581 congenital myasthenic syndrome 2A oio:hasExactSynonym oio:hasRelatedSynonym CMS IIa DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009895 CMS IIa DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014588 congenital myasthenic syndrome 11 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ie Cms Ie CMS Ie DOID:0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616326 CMS Ie DOID:0110675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 DOID:0110588 autosomal dominant deafness 67 DOID:0110588 MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 OMIM:616340 autosomal dominant nonsyndromic deafness 67 DOID:0110588 @@ -4159,7 +3661,6 @@ MONDO:0014637 DOCK2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD40 MONDO:0014652 exudative vitreoretinopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym EVR6 DOID:0111410 exudative vitreoretinopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616468 EVR6 DOID:0111410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOB2 DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616479 PEOB2 DOID:0111515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014660 microcephaly 15, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH15 DOID:0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616486 MCPH15 DOID:0070277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement DOID:0111022 cone-rod dystrophy 16 OMIM:616502 retinal dystrophy with early macular involvement DOID:0111022 MONDO:0014673 cataract 44 oio:hasExactSynonym oio:hasBroadSynonym total early-onset cataract DOID:0110267 cataract 44 DOID:0110267 total early-onset cataract DOID:0110267 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 DOID:0110465 autosomal recessive deafness 104 DOID:0110465 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 OMIM:616515 autosomal recessive nonsyndromic deafness 104 DOID:0110465 @@ -4229,8 +3730,6 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym oio:hasRelatedSynonym Seligmann's disease DOID:0060126 alpha chain disease Wikipedia:Heavy_chain_disease, DOID:0060126 Seligmann's disease DOID:0060126 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor DOID:5457 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour DOID:5457 laryngeal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 laryngeal neuroendocrine tumour DOID:5457 -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer DOID:1781 thyroid cancer NCIT:C4815 thyroid cancer DOID:1781 -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer DOID:1781 thyroid cancer NCIT:C4815 thyroid gland cancer DOID:1781 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym head and neck cancer, thyroid head and neck cancer, thyroid head and neck cancer, Thyroid DOID:3963 thyroid gland carcinoma DOID:3963, NCIT:C4815 head and neck cancer, thyroid DOID:3963 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T cell and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency DOID:628 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis exudativa bronchiolitis exudativa Bronchiolitis exudativa DOID:2799 bronchiolitis obliterans DOID:2799 bronchiolitis exudativa DOID:2799 @@ -4240,7 +3739,6 @@ MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Com MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Complex, type 2 Carney Complex, type 2 Carney Complex, Type 2 DOID:0050471 Carney complex DOID:0050471 Carney Complex, type 2 DOID:0050471 MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis DOID:0050639 primary cutaneous amyloidosis DOID:0050639 familial primary localized cutaneous amyloidosis DOID:0050639 MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lemierre's syndrome DOID:11337 Lemierre's syndrome DOID:11337 Lemierre's syndrome DOID:11337 -MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute sore throat DOID:2275 pharyngitis DOID:11337 acute sore throat DOID:2275 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor malignant Nasopharyngeal tumor DOID:9261 nasopharynx carcinoma NCIT:C9321, DOID:9261 malignant nasopharyngeal tumor DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx DOID:9261 nasopharynx carcinoma ICD9CM:147, DOID:9261, MTH:NOCODE malignant neoplasm of nasopharynx DOID:9261 MONDO:0015459 nasopharyngeal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasopharynx DOID:9261 nasopharynx carcinoma DOID:9261, NCIT:C3871, MONDO:patterns/carcinoma carcinoma of nasopharynx DOID:9261 @@ -4250,24 +3748,16 @@ MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelate MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia DOID:12177 common variable immunodeficiency DOID:12177 acquired hypogammaglobulinemia DOID:12177 MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym haemophagocytic syndrome DOID:0050120 hemophagocytic lymphohistiocytosis DOID:0050120 haemophagocytic syndrome DOID:0050120 MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 DOID:0081453 Dent disease 1 DOID:0050699 Dent disease 1 DOID:0081453 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 DOID:0081454 Dent disease 2 DOID:0050699 Dent disease 2 DOID:0081454 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 NCIT:C75467 hereditary motor and sensory neuropathy DOID:0050541 -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy NCIT:C75467 hereditary motor and sensory neuropathy DOID:2477 MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym eosinophilia DOID:999 hypereosinophilic syndrome DOID:999 eosinophilia DOID:999 -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 DOID:0111156 globozoospermia DOID:0111156 MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060307 autosomal dominant mental retardation DOID:0060307 -MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer DOID:119 vaginal cancer NCIT:C3917 vaginal cancer DOID:119 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 benign cystosarcoma phyllodes DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm benign Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor DOID:1631, NCIT:C4274 benign phyllodes neoplasm DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 cystosarcoma phyllodes DOID:1631 MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor NCIT:C2977, DOID:1631 phyllodes neoplasm DOID:1631 -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym SBS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605249, MONDO:Lexical SBS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym bilateral renal aplasia DOID:0080200 bilateral renal aplasia DOID:0080200 bilateral renal aplasia DOID:0080200 MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency DOID:9273 citrullinemia DOID:9273 ass deficiency DOID:9273 MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy DOID:0050667 alcohol-related neurodevelopmental disorder DOID:0050667 static encephalopathy DOID:0050667 -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects Orphanet:1915 alcohol-related birth defects DOID:0050668 MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum dysplastic Gangliocytoma of Cerebellum DOID:6457 Cowden syndrome DOID:6457, NCIT:C8419 dysplastic gangliocytoma of cerebellum DOID:6457 MONDO:0016063 Cowden disease oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome DOID:6457 Cowden syndrome Orphanet:201, NCIT:C3076, DOID:6457 multiple hamartoma syndrome DOID:6457 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonic disease DOID:450 myotonic disease DOID:450 myotonic disease DOID:450 @@ -4279,55 +3769,37 @@ MONDO:0016262 leiomyosarcoma of the corpus uteri oio:hasExactSynonym oio:hasRela MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune chronic active hepatitis autoimmune chronic active hepatitis Autoimmune chronic active hepatitis DOID:2048 autoimmune hepatitis https://emedicine.medscape.com/article/172356-overview#a3, DOID:2048 autoimmune chronic active hepatitis DOID:2048 MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune hepatitis with centrilobular necrosis DOID:2048 autoimmune hepatitis DOID:2048 autoimmune hepatitis with centrilobular necrosis DOID:2048 MONDO:0016318 progressive multifocal leukoencephalopathy oio:hasRelatedSynonym oio:hasExactSynonym PML DOID:643 progressive multifocal leukoencephalopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:217260, DOID:643 PML DOID:643 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis DOID:14202 adult dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis DOID:14202 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Balo disease DOID:0060215 Balo concentric sclerosis GARD:0005885 Balo disease DOID:0060215 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Tumefactive multiple sclerosis DOID:0060215 Balo concentric sclerosis GARD:0005885 Tumefactive multiple sclerosis DOID:0060215 -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome GARD:0005885 diffuse cerebral sclerosis of Schilder DOID:0080122 -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym encephalitis periaxialis concentrica encephalitis periaxialis concentrica Encephalitis periaxialis concentrica DOID:10588 adrenoleukodystrophy GARD:0005885 encephalitis periaxialis concentrica DOID:10588 MONDO:0016471 pachyonychia congenita oio:hasExactSynonym oio:hasNarrowSynonym pachyonychia congenita type 1 pachyonychia congenita type 1 Pachyonychia Congenita Type 1 DOID:0050449 pachyonychia congenita DOID:0050449 pachyonychia congenita type 1 DOID:0050449 MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym oio:hasBroadSynonym DIL DOID:0040093 drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0040093 DIL DOID:0040093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016535 hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CST syndrome DOID:0111664 ectodermal dysplasia 1 GARD:0000076 CST syndrome DOID:0111664 MONDO:0016558 familial congenital mirror movements oio:hasExactSynonym oio:hasRelatedSynonym congenital mirror movement disorder DOID:0111153 congenital mirror movement disorder GARD:0012551, DOID:0111153 congenital mirror movement disorder DOID:0111153 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis aggressive systemic mastocytosis DOID:4798 aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis DOID:4798 MONDO:0016595 inhalational anthrax oio:hasExactSynonym oio:hasRelatedSynonym inhalation anthrax DOID:0050160 inhalation anthrax DOID:0050160 inhalation anthrax DOID:0050160 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym intracranial meningioma DOID:0080842 intracranial meningioma DOID:3565 intracranial meningioma DOID:0080842 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym supratentorial meningioma DOID:0080843 supratentorial meningioma DOID:3565 supratentorial meningioma DOID:0080843 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm DOID:3565 meningioma DOID:3565 meningeal neoplasm DOID:3565 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningothelial cell tumor DOID:3565 meningioma DOID:3565 meningothelial cell tumor DOID:3565 MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym primary meningeal tumor primary meningeal tumor primary Meningeal tumor DOID:3565 meningioma DOID:3565 primary meningeal tumor DOID:3565 -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 NCIT:C129028 frontonasal dysplasia 1 DOID:0081045 -MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly DOID:0070297 primary microcephaly Orphanet:2512 true microcephaly DOID:0070297 MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm DOID:3181 oligodendroglioma DOID:3181 oligodendroglial neoplasm DOID:3181 MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor DOID:3181 oligodendroglioma DOID:3181, NCIT:C6960 oligodendroglial tumor DOID:3181 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO grade II Ependymal tumor DOID:4844 benign ependymoma DOID:4844, NCIT:C3017 WHO grade II ependymal tumor DOID:4844 MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymal tumors DOID:5074 high grade ependymoma DOID:5074 ependymal tumors DOID:5074 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer DOID:3540 choroid plexus cancer NCIT:C4715 choroid plexus cancer DOID:3540 MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym adult ganglioglioma DOID:5078 ganglioglioma DOID:5078 adult ganglioglioma DOID:5078 MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym childhood ganglioglioma DOID:5078 ganglioglioma DOID:5078 childhood ganglioglioma DOID:5078 MONDO:0016955 partial duplication of the long arm of chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym partial trisomy distal 4q DOID:0111159 partial trisomy distal 4q DOID:0111159 partial trisomy distal 4q DOID:0111159 -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis Orphanet:280569 crescentic glomerulonephritis DOID:13139 MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym early-onset Parkinson's disease DOID:0060894 early-onset Parkinson's disease DOID:0060894 early-onset Parkinson's disease DOID:0060894 MONDO:0017282 alveolar echinococcosis oio:hasRelatedSynonym oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection DOID:12148 alveolar echinococcosis Orphanet:284 Echinococcus multilocularis infection DOID:12148 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis DOID:1496 echinococcosis GARD:0000207 echinococcosis DOID:1496 MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym fatal multiple mitochondrial dysfunction syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome GARD:0012632 fatal multiple mitochondrial dysfunction syndrome DOID:0070330 MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type III DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 -MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer DOID:1785 pituitary cancer NCIT:C4536 pituitary gland cancer DOID:1785 MONDO:0017675 punctate palmoplantar keratoderma oio:hasRelatedSynonym oio:hasExactSynonym punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma Orphanet:307967, DOID:0060361 punctate keratosis palmoplantaris DOID:0060361 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma DOID:2776 adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma DOID:2776 MONDO:0017814 primary bone lymphoma oio:hasExactSynonym oio:hasRelatedSynonym bone lymphoma DOID:6759 bone lymphoma DOID:6759 bone lymphoma DOID:6759 -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma DOID:3512 neurofibrosarcoma NCIT:C3798, Orphanet:3148 neurofibrosarcoma DOID:3512 -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Erythroleukemia erythroleukemia DOID:0080916 erythroleukemia Orphanet:318 Erythroleukemia DOID:0080916 MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency DOID:2211 factor XIII deficiency DOID:2211 factor XIII deficiency DOID:2211 MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy D1 Trisomy DOID:11665 Patau syndrome NCIT:C36529, DOID:11665 D1 trisomy DOID:11665 MONDO:0018068 trisomy 13 oio:hasRelatedSynonym oio:hasExactSynonym Patau's syndrome DOID:11665 Patau syndrome DOID:11665, ICD9CM:758.1 Patau's syndrome DOID:11665 MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym oio:hasRelatedSynonym xanthinuria DOID:0060236 xanthinuria DOID:0060236 xanthinuria DOID:0060236 -MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018177 glioblastoma oio:hasExactSynonym oio:hasNarrowSynonym grade IV adult astrocytic tumor grade IV adult astrocytic tumor grade IV adult Astrocytic tumor DOID:3068 glioblastoma DOID:3068, NCIT:C9094 grade IV adult astrocytic tumor DOID:3068 MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood DOID:0070324 EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 MONDO:0018309 Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym macrocolon DOID:10487 Hirschsprung's disease DOID:10487 macrocolon DOID:10487 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym Langerhans-cell histiocytosis DOID:2571 Langerhans-cell histiocytosis DOID:2571 Langerhans-cell histiocytosis DOID:2571 MONDO:0018352 squamous cell carcinoma of penis oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma DOID:5518, NCIT:C7729 squamous cell carcinoma of penis DOID:5518 -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:OIMT immature teratoma DOID:5563 MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis DOID:8125 osteochondrosis DOID:8125 osteochondritis DOID:8125 MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis juvenilis DOID:8125 osteochondrosis DOID:8125 osteochondritis juvenilis DOID:8125 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH DOID:0060699 familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBH DOID:0060699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4340,10 +3812,8 @@ MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym oio:has MONDO:0018492 hereditary clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hereditary conventional renal cell carcinoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 MONDO:0018513 squamous cell carcinoma of colon oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma NCIT:C5490, DOID:5519 squamous cell carcinoma of colon DOID:5519 MONDO:0018515 squamous cell carcinoma of rectum oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma DOID:5528, NCIT:C5554 squamous cell carcinoma of the rectum DOID:5528 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas Orphanet:424053 pancreatic mucinous cystadenocarcinoma DOID:7234 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm DOID:7235 pancreatic mucinous cystadenoma DOID:7235 pancreatic mucinous cystic neoplasm DOID:7235 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma DOID:7735 pancreatic colloid cystadenoma NCIT:C5718 pancreatic colloid cystadenoma DOID:7735 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome DOID:0111510 Marshall syndrome NCIT:C116917 Marshall syndrome DOID:0111510 MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy DOID:10588 diffuse sclerosis DOID:10588 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism DOID:0090070 congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism MONDO:0004228 hypogonadotropism DOID:0090070 @@ -4377,38 +3847,22 @@ MONDO:0018769 isosporiasis oio:hasExactSynonym oio:hasRelatedSynonym infection b MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy DOID:0050592 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia DOID:474 histiocytoid hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia DOID:474 MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym oio:hasNarrowSynonym cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 congenital bile acid synthesis defect DOID:0050674 cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:BEC embryonal carcinoma DOID:3308 MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma DOID:7232, NCIT:C7010 embryonal carcinoma of the central nervous system DOID:7232 MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS DOID:0050629 Aicardi-Goutieres syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 AGS DOID:0050629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym LFS1 DOID:0111503 Li-Fraumeni syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:151623 LFS1 DOID:0111503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasRelatedSynonym angiitis angiitis Angiitis DOID:865 vasculitis DOID:865 angiitis DOID:865 -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma DOID:2634 cystadenoma NCIT:C2964 cystoma DOID:2634 MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia DOID:1858 McCune Albright syndrome DOID:1858, OMIM:174800 polyostotic fibrous dysplasia DOID:1858 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasBroadSynonym mucolipidosis III DOID:0080071 mucolipidosis III alpha/beta DOID:0080071 mucolipidosis III DOID:0080071 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III ALPHA/BETA mucolipidosis III ALPHA/BETA mucolipidosis III alpha/beta DOID:0080071 mucolipidosis III alpha/beta OMIM:252600 mucolipidosis III ALPHA/BETA DOID:0080071 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 NAGLU deficiency DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB mucopolysaccharidosis type iiib DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 mucopolysaccharidosis type IIIB DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 mucopolysaccharidosis type IIIB DOID:0111394 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 mucopolysaccharidosis type IIIA DOID:0111395 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 mucopolysaccharidosis type IIIA DOID:0111395 MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis III DOID:12801 mucopolysaccharidosis III DOID:12801 mucopolysaccharidosis III DOID:12801 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA DOID:12804 Morquio A disease DOID:0111391 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA DOID:12804 Morquio syndrome A DOID:0111391 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 mucopolysaccharidosis type IVB DOID:0111392 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB mucopolysaccharidosis type ivb DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 mucopolysaccharidosis type IVB DOID:0111392 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 mucopolysaccharidosis IV DOID:12804 deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV DOID:12804 galactosamine-6-sulfatase deficiency DOID:12804 -MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial limb-girdle myasthenia DOID:0110668 congenital myasthenic syndrome 10 DOID:3635 familial limb-girdle myasthenia DOID:0110668 MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole DOID:3590 gestational trophoblastic neoplasm DOID:3590 hydatidiform mole DOID:3590 MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy DOID:3590 gestational trophoblastic neoplasm NCIT:C3110, DOID:3590 molar pregnancy DOID:3590 -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy DOID:0070198 Miyoshi muscular dystrophy DOID:11720 Miyoshi muscular dystrophy DOID:0070198 MONDO:0018958 nemaline myopathy oio:hasExactSynonym oio:hasRelatedSynonym Rod body disease Rod body disease rod body disease DOID:3191 nemaline myopathy GARD:0012033 Rod body disease DOID:3191 MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis DOID:10983 Alport syndrome NCIT:C34842, DOID:10983 hereditary nephritis DOID:10983 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome DOID:0060403 chromosome 17q11.2 deletion syndrome NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome DOID:0060403 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen Disease DOID:0111253 neurofibromatosis 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease DOID:0111253 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis DOID:8712 neurofibromatosis NCIT:C3273 neurofibromatosis DOID:8712 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical SCAR1 DOID:0050755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym adult nephroblastoma DOID:2154 nephroblastoma DOID:2154 adult nephroblastoma DOID:2154 MONDO:0019004 kidney Wilms tumor oio:hasRelatedSynonym oio:hasExactSynonym Wilms' Tumor Wilms' Tumor Wilms' tumor DOID:2154 nephroblastoma NORD:1855 Wilms' Tumor DOID:2154 @@ -4422,23 +3876,18 @@ MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio: MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 HLTRS DOID:0111360 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus DOID:1107 esophageal carcinoma NCIT:C3513, DOID:1107 cancer of esophagus DOID:1107 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 cancer of oesophagus DOID:1107 -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer DOID:5041 esophageal cancer NCIT:C3513 esophageal cancer DOID:5041 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer Orphanet:70567 bile duct cancer DOID:4606 -MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym black death DOID:10773 bubonic plague black death DOID:10773 MONDO:0019118 inherited retinal dystrophy oio:hasExactSynonym oio:hasBroadSynonym fundus dystrophy DOID:8501 fundus dystrophy MONDO:0004590 fundus dystrophy DOID:8501 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Hematoporphyria DOID:13268 porphyria DOID:13268 Hematoporphyria DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Porphyrinopathy DOID:13268 porphyria DOID:13268 Porphyrinopathy DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin metabolism DOID:13268 porphyria ICD9CM:277.1, DOID:13268 disorder of porphyrin metabolism DOID:13268 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria DOID:13268 porphyria DOID:13268 porphyria DOID:13268 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency Orphanet:743 severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency DOID:0080217 lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency DOID:0080217 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD DOID:14502 cholesterol ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 CESD DOID:14502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Feminisation - testicular DOID:4674 androgen insensitivity syndrome DOID:4674 Feminisation - testicular DOID:4674 MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym oio:hasNarrowSynonym pericentral pigmentary retinopathy DOID:10584 retinitis pigmentosa DOID:10584 pericentral pigmentary retinopathy DOID:10584 MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate metabolic disorder DOID:2978 carbohydrate metabolic disorder DOID:2978 carbohydrate metabolic disorder DOID:2978 MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency DOID:0050731 vitamin B12 deficiency DOID:0050731 cobalamin deficiency DOID:0050731 MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym hypocobalaminemia DOID:0050731 vitamin B12 deficiency DOID:0050731 hypocobalaminemia DOID:0050731 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome DOID:905 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome DOID:905 MONDO:0019245 lysosomal lipid storage disorder oio:hasExactSynonym oio:hasRelatedSynonym lipoidosis DOID:9455 lipid storage disease DOID:9455 lipoidosis DOID:9455 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym purine-pyrimidine metabolic disorder DOID:653 purine-pyrimidine metabolic disorder DOID:653 purine-pyrimidine metabolic disorder DOID:653 MONDO:0019269 ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym non-syndromic ichthyosis DOID:1697 ichthyosis DOID:1697 non-syndromic ichthyosis DOID:1697 @@ -4451,9 +3900,7 @@ MONDO:0019345 shigellosis oio:hasExactSynonym oio:hasNarrowSynonym Shigella sonn MONDO:0019349 Sotos syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOTOS1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:117550, MONDO:Lexical SOTOS1 DOID:0112103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019353 Stargardt disease oio:hasExactSynonym oio:hasNarrowSynonym Stargardt disease 1 Stargardt disease 1 STARGARDT DISEASE 1 DOID:0050817 Stargardt disease DOID:0050817 Stargardt disease 1 DOID:0050817 MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym Tick typhus DOID:0050052 Rocky Mountain spotted fever DOID:0050052 Tick typhus DOID:0050052 -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym oio:hasBroadSynonym typhus DOID:11256 typhus Wikipedia:Typhus typhus DOID:11256 MONDO:0019365 scrub typhus oio:hasRelatedSynonym oio:hasExactSynonym tsutsugamushi fever tsutsugamushi fever Tsutsugamushi fever DOID:13371 scrub typhus DOID:13371, Orphanet:83317 tsutsugamushi fever DOID:13371 -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy DOID:1811 reflex sympathetic dystrophy GARD:0004647 reflex sympathetic dystrophy DOID:1811 MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma soft tissue Perineurioma DOID:4697 perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma DOID:4697 MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Light chain amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 Light chain amyloidosis DOID:0080933 MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis primary systemic amyloidosis primary systemic Amyloidosis primary systemic DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 amyloidosis primary systemic DOID:0080933 @@ -4466,10 +3913,8 @@ MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedS MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect DOID:0111073 progressive familial heart block Orphanet:871, DOID:0111073 hereditary bundle branch defect DOID:0111073 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic deafness DOID:0050563 nonsyndromic deafness DOID:0050563 nonsyndromic deafness DOID:0050563 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic hearing loss DOID:0050563 nonsyndromic deafness MONDO:patterns/isolated, DOID:0050563 nonsyndromic hearing loss DOID:0050563 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis DOID:14447 gonadal dysgenesis NCIT:C26900 gonadal dysgenesis DOID:14447 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome DOID:3491 Turner syndrome DOID:3491 Bonnevie-Ullrich syndrome DOID:3491 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X DOID:3491 Turner syndrome DOID:3491, NCIT:C36630 monosomy X DOID:3491 -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome DOID:0110829 retinitis pigmentosa-deafness syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome DOID:0110829 MONDO:0019508 van der Woude syndrome oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome DOID:0060239 Van der Woude syndrome DOID:0060239, Orphanet:888 lip-pit syndrome DOID:0060239 MONDO:0019514 hepatic veno-occlusive disease oio:hasExactSynonym oio:hasRelatedSynonym veno-occlusive disease DOID:0080177 hepatic veno-occlusive disease DOID:0080177 veno-occlusive disease DOID:0080177 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular hemophilia DOID:12531 von Willebrand's disease DOID:12531 vascular hemophilia DOID:12531 @@ -4483,15 +3928,8 @@ MONDO:0019586 X-linked nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarr MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant deafness DOID:0050564 autosomal dominant nonsyndromic deafness DOID:0050564 autosomal dominant deafness DOID:0050564 MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness DOID:0050564 autosomal dominant nonsyndromic deafness https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900 autosomal dominant nonsyndromic deafness DOID:0050564 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness DOID:0050565 autosomal recessive nonsyndromic deafness OMIM:607197 autosomal recessive nonsyndromic deafness DOID:0050565 -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma DOID:5577 gastrinoma Orphanet:913 gastrinoma DOID:5577 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 Orphanet:93359 spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 SEMDJL1 DOID:0112198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 acromesomelic dwarfism DOID:0080051 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome Mulchandani-Bhoj-Conlin syndrome DOID:0111714 Mulchandani-Bhoj-Conlin syndrome OMIM:617352 MULCHANDANI-BHOJ-CONLIN syndrome DOID:0111714 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS DOID:0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 MBCS DOID:0111714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019933 acromegaly oio:hasExactSynonym oio:hasRelatedSynonym somatotroph adenoma somatotroph adenoma Somatotroph adenoma DOID:6255 growth hormone secreting pituitary adenoma GARD:0005725 somatotroph adenoma DOID:6255 -MONDO:0019952 congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym Batten Turner congenital myopathy DOID:2106 myotonia congenita GARD:0005898 Batten Turner congenital myopathy DOID:2106 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera DOID:6977 pancreatic cholera GARD:0003787, Orphanet:97282 pancreatic cholera DOID:6977 MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27350, DOID:2226 CMPD, U DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020213 stromal corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym stromal dystrophy DOID:0060442 stromal dystrophy DOID:0060442 stromal dystrophy DOID:0060442 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect DOID:0050651 atrioventricular septal defect DOID:0050651 atrioventricular canal defect DOID:0050651 @@ -4501,47 +3939,28 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal B-cell lymphoma DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma DOID:0050593 primary congenital glaucoma Orphanet:98976 primary congenital glaucoma DOID:0050593 MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia DOID:1441 spinocerebellar ataxia DOID:1441 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency DOID:0111165 molybdenum cofactor deficiency OMIMPS:252150 molybdenum cofactor deficiency DOID:0111165 -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 Cree leukoencephalopathy DOID:0070367 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL DOID:0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 B-ALL DOID:0080630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B acute lymphoblastic leukemia DOID:0080638 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B-cell acute lymphoblastic leukemia DOID:0080638 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphocytic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 B-cell acute lymphocytic leukemia DOID:0080638 MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym oio:hasRelatedSynonym spermatocytoma DOID:5834 spermatocytoma DOID:5834 spermatocytoma DOID:5834 MONDO:0020533 streptobacillary rat-bite fever oio:hasRelatedSynonym oio:hasExactSynonym streptobacillary rat-bite fever streptobacillary rat-bite fever Streptobacillary rat-bite fever DOID:13238 Haverhill fever DOID:13238 streptobacillary rat-bite fever DOID:13238 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 OMIM:312870 Golabi-Rosen syndrome DOID:0060248 -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis OMIM:207410 trapezoidocephaly-synostosis Syndrome DOID:0050462 -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym XGPT deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 XGPT deficiency DOID:0050802 -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 xylosylprotein 4-Beta-galactosyltransferase deficiency DOID:0050802 -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis DOID:0050568 -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysplasia DOID:0050568 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym SCDO1 DOID:0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277300 SCDO1 DOID:0112365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020717 autosomal dominant wooly hair oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194300 ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 cavernous angiomatous malformations DOID:0060669 -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 cerebral capillary malformations DOID:0060669 MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 DOID:0111498 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 COXPD22 DOID:0111498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome DOID:12169 carpal tunnel syndrome OMIM:115430 carpal tunnel syndrome DOID:12169 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, MONDO:Lexical ACTH-independent macronodular adrenal hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662, Orphanet:189427 ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662 adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, GARD:0010824, MESH:C565662 corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH1 DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:219080, MESH:C565662 AIMAH1 DOID:0111623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym OPA10 DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 OPA10 DOID:0111434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020738 multiple benign circumferential skin creases on limbs 1 oio:hasExactSynonym oio:hasRelatedSynonym CSCSC1 DOID:0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156610 CSCSC1 DOID:0112242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 AASA dehydrogenase deficiency DOID:0070519 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy OMIM:266100 pyridoxine-dependent epilepsy DOID:0080768 MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAN3 DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618387 SCAN3 DOID:0070465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy Meesmann corneal dystrophy DOID:0060451 Meesmann corneal dystrophy OMIM:122100 Meesmann Corneal Dystrophy DOID:0060451 -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy DOID:0081296 oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy DOID:0081296 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of classic hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 symptomatic form of classic hemochromatosis DOID:0111029 MONDO:0021003 polydactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly DOID:1148 polydactyly DOID:1148 postaxial polydactyly DOID:1148 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome Aarskog syndrome DOID:0111824 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome faciogenital dysplasia DOID:0111824 -MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome Aarskog-Scott syndrome DOID:6683 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome AMISH BRITTLE HAIR BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 Amish brittle hair brain syndrome DOID:0050528 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 BIDS syndrome DOID:0050528 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym hair-brain syndrome hair-brain syndrome HAIR-BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 hair-brain syndrome DOID:0050528 @@ -4551,9 +3970,7 @@ MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia DOID:0060695 hyperekplexia Orphanet:3197 hyperekplexia DOID:0060695 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985, NCIT:C7135 extraosseous Ewing's tumor DOID:4985 MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 extraosseous Ewing's tumour DOID:4985 -MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis OMIM:175100 adenomatous polyposis of the colon DOID:0050424 MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm DOID:170 endocrine gland cancer DOID:170 endocrine neoplasm DOID:170 -MONDO:0021093 cranioectodermal dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Sensenbrenner syndrome DOID:0050577 cranioectodermal dysplasia OMIM:218330 Sensenbrenner syndrome DOID:0050577 MONDO:0021097 intraductal breast papilloma oio:hasExactSynonym oio:hasRelatedSynonym breast duct papilloma DOID:1626 breast duct papilloma DOID:1626 breast duct papilloma DOID:1626 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor http://purl.obolibrary.org/obo/OMO_0003005 appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 @@ -4563,7 +3980,6 @@ MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasRelatedSynonym acute-on-chronic respiratory failure DOID:11162 respiratory failure DOID:11162 acute-on-chronic respiratory failure DOID:11162 MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym chronic respiratory failure DOID:11162 respiratory failure DOID:11162 chronic respiratory failure DOID:11162 MONDO:0021118 intestinal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym intestinal benign neoplasm DOID:4610 intestinal benign neoplasm DOID:4610 intestinal benign neoplasm DOID:4610 -MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym nanophthalmos DOID:0080634 nanophthalmos DOID:10629 nanophthalmos DOID:0080634 MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos DOID:10629 microphthalmia DOID:10629 microphthalmos DOID:10629 MONDO:0021259 prostate neoplasm oio:hasExactSynonym oio:hasRelatedSynonym nodular prostate DOID:13206 nodular prostate nodular prostate DOID:13206 MONDO:0021553 transverse myelitis oio:hasExactSynonym oio:hasRelatedSynonym Transverse Myelitis Transverse Myelitis transverse myelitis DOID:0080743 transverse myelitis MESH:D009188 Transverse Myelitis DOID:0080743 @@ -4573,12 +3989,10 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym scapuloilioperoneal atrophy with cardiopathy DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 OMIM:181350 scapuloilioperoneal atrophy with cardiopathy DOID:0070247 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMD2 DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181350 EMD2 DOID:0070247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum astrocytoma of Cerebrum DOID:3069 malignant astrocytoma DOID:3069 astrocytoma of cerebrum DOID:3069 -MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym oio:hasRelatedSynonym sex cord stromal tumour sex cord stromal tumour Sex cord stromal tumour DOID:192 sex cord-gonadal stromal tumor http://purl.obolibrary.org/obo/OMO_0003005 sex cord stromal tumour DOID:192 MONDO:0022687 cerebellar degeneration oio:hasExactSynonym oio:hasRelatedSynonym cerebral degeneration DOID:1443 cerebral degeneration DOID:1443 cerebral degeneration DOID:1443 MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational Asthma Occupational Asthma occupational asthma DOID:0080820 occupational asthma MESH:D059366 Occupational Asthma DOID:0080820 MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational asthma Occupational asthma occupational asthma DOID:0080820 occupational asthma UMLS:C0264423 Occupational asthma DOID:0080820 MONDO:0023069 enlarged vestibular aqueduct syndrome oio:hasExactSynonym oio:hasRelatedSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct DOID:0050332 -MONDO:0023419 hyperprolinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolinemia type 1 DOID:0080542 hyperprolinemia type 1 GARD:0002847 hyperprolinemia type 1 DOID:0080542 MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine ductal carcinoma of skin eccrine ductal carcinoma of skin Eccrine ductal carcinoma of skin DOID:5570 malignant acrospiroma DOID:5570 eccrine ductal carcinoma of skin DOID:5570 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 2 DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 MONDO:0024268 superficial mycosis oio:hasExactSynonym oio:hasNarrowSynonym piedra DOID:0050133 superficial mycosis DOID:0050133 piedra DOID:0050133 @@ -4587,12 +4001,7 @@ MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolactinemia DOID:12700 hyperprolactinemia DOID:12700 hyperprolactinemia DOID:12700 MONDO:0024306 acquired lactic acidosis oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis DOID:3650 lactic acidosis DOID:3650 lactic acidosis DOID:3650 MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExactSynonym oio:hasRelatedSynonym hereditary sensory and autonomic neuropathy type 2A DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large intestine cancer DOID:5672 large intestine cancer NCIT:C2955 large intestine cancer DOID:5672 -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym colorectal cancer DOID:9256 colorectal cancer NCIT:C2955 colorectal cancer DOID:9256 MONDO:0024336 vulvar adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma DOID:2098, NCIT:C6380 adenocarcinoma of the vulva DOID:2098 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism DOID:0060254 Robinow syndrome OMIM:180700 Robinow dwarfism DOID:0060254 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities DOID:0060254 Robinow syndrome OMIM:180700 acral dysostosis with Facial and genital abnormalities DOID:0060254 -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome DOID:0060254 Robinow syndrome OMIM:180700 fetal face syndrome DOID:0060254 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasBroadSynonym Seitelberger disease Seitelberger disease Seitelberger Disease DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#DEPRECATED Orphanet:35069, OMIM:256600, DOID:0110735 Seitelberger disease DOID:0110735 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym INAD1 DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256600, Orphanet:35069 INAD1 DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024472 boutonneuse fever oio:hasExactSynonym oio:hasBroadSynonym Rickettsia conorii spotted fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 Rickettsia conorii spotted fever DOID:14095 @@ -4602,39 +4011,24 @@ MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Kenyan MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean spotted fever DOID:14095 boutonneuse fever DOID:14095, PMID:18760001, Orphanet:83313 Mediterranean spotted fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean tick fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 Mediterranean tick fever DOID:14095 MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym boutonneuse disease boutonneuse disease Boutonneuse disease DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 boutonneuse disease DOID:14095 -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia DOID:12271 aniridia OMIM:106210, OMIM:genemap2 aniridia DOID:12271 -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym bathing epilepsy DOID:0081104 hot water epilepsy OMIM:613339 bathing epilepsy DOID:0081104 -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym water immersion epilepsy DOID:0081104 hot water epilepsy OMIM:613339 water immersion epilepsy DOID:0081104 -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease DOID:62 aortic valve disease OMIM:109730 aortic valve disease DOID:62 -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome OMIM:134600 adult Fanconi syndrome DOID:1062 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222470 THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia, VLDLR-associated DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 OMIM:224050 cerebellar hypoplasia, VLDLR-associated DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:224050 CAMRQ1 DOID:0070556 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy DOID:0070198 Miyoshi muscular dystrophy OMIM:254130 Miyoshi myopathy DOID:0070198 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130 MIYOSHI muscular dystrophy 1 DOID:0070199 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254130 MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin DOID:0060283 peeling skin syndrome OMIM:270300 deciduous skin DOID:0060283 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 DOID:0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 DOID:0070520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD Fmd FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 DOID:0111786 frontometaphyseal dysplasia 1 OMIM:305620 FRONTOMETAPHYSEAL dysplasia 1 DOID:0111786 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 DOID:0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD1 DOID:0111786 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym Midas syndrome Midas syndrome MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801 Midas syndrome DOID:0111808 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 MLASA1 DOID:0111185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 D-2-hydroxyglutaric aciduria DOID:0050575 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 D2HGA1 DOID:0111351 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasBroadSynonym megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:genemap2, OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Van Der Knaap disease DOID:0080316 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with swelling and cysts DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 leukoencephalopathy with swelling and cysts DOID:0080316 MONDO:0024566 febrile seizures, familial, 11 oio:hasExactSynonym oio:hasRelatedSynonym FEB11 DOID:0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614418 FEB11 DOID:0111308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024609 vulvar squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of vulva DOID:2101 vulva squamous cell carcinoma DOID:2101, NCIT:C4052 squamous cell carcinoma of vulva DOID:2101 MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym islet cell adenoma islet cell adenoma Islet cell adenoma DOID:3892 insulinoma DOID:3892 islet cell adenoma DOID:3892 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor Orphanet:66627 tenosynovial giant cell tumor DOID:314 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumour DOID:314 tenosynovial giant cell tumor http://purl.obolibrary.org/obo/OMO_0003005 tenosynovial giant cell tumour DOID:314 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym villonodular synovitis DOID:9898 villonodular synovitis DOID:9898 villonodular synovitis DOID:9898 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor DOID:6755 amyloid tumor DOID:6755 amyloid tumor DOID:6755 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumour DOID:6755 amyloid tumor http://purl.obolibrary.org/obo/OMO_0003005 amyloid tumour DOID:6755 @@ -4655,7 +4049,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 X-Linked immunodeficiency 74 OMIM:301051 respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 DOID:0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 IMD74 DOID:0112063 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 DOID:0070075 9q-syndrome DOID:0060352 -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome DOID:0070075 Kleefstra syndrome DOID:0080597 MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IID DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIC DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 MONDO:0027676 congenital anomalies of kidney and urinary tract 2 oio:hasExactSynonym oio:hasRelatedSynonym CAKUT2 DOID:0080207 CAKUT2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143400, DOID:0080207 CAKUT2 DOID:0080207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4670,7 +4063,6 @@ MONDO:0029147 spermatogenic failure 33 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPERMATOGENIC FAILURE 34 SPERMATOGENIC FAILURE 34 spermatogenic failure 34 DOID:0111911 spermatogenic failure 34 OMIM:618153 SPERMATOGENIC FAILURE 34 DOID:0111911 MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPGF34 DOID:0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618153 SPGF34 DOID:0111911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 DOID:0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 DFNA77 DOID:0112168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure DOID:0111910 spermatogenic failure OMIM:619145, OMIM:genemap2 spermatogenic failure DOID:0111910 MONDO:0030906 Trichomonas tenax infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas tenax trichomoniasis DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation 106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0080240 X-linked mental retardation 106 DOID:0080240 MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym MRX106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 MRX106 DOID:0080240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -4874,14 +4266,10 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 4 with or without hepatic disease DOID:0080212 polycystic kidney disease 4 OMIM:263200 polycystic kidney disease 4 with or without hepatic disease DOID:0080212 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 OMIM:263200 polycystic kidney disease, autosomal recessive DOID:0080212 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 DOID:0080212 -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease OMIM:263200 polycystic kidney and hepatic disease 1 DOID:898 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 Galloway syndrome DOID:0060364 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 nephrosis-microcephaly syndrome DOID:0060364 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 nephrosis-neuronal dysmigration syndrome DOID:0060364 MONDO:0033006 Galloway-Mowat syndrome 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Galloway-Mowat syndrome 2 DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym Greither disease Greither disease Greither Disease DOID:0050467 erythrokeratodermia variabilis OMIM:133200 Greither disease DOID:0050467 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis OMIM:133200 erythrokeratodermia variabilis DOID:0050467 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis et progressiva 1 DOID:0111195 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis ET progressiva 1 DOID:0111195 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 DOID:0080248 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis ET progressiva 2 DOID:0080248 MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis ET progressiva 3 DOID:0080249 @@ -4972,7 +4360,6 @@ MONDO:0049223 osteogenesis imperfecta, type 19 oio:hasExactSynonym oio:hasRelate MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG IIq CDG Iiq CDG IIq DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 CDG IIq DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG2Q DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 CDG2Q DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, Menger type DOID:0050640 -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia OMIM:607095 anauxetic dysplasia DOID:0080942 MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym primary autosomal dominant microcephaly 18 DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MCPH18 DOID:0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617520 MCPH18 DOID:0070295 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054601 pituitary adenoma 5, multiple types oio:hasExactSynonym oio:hasRelatedSynonym PITA5 DOID:0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617540 PITA5 DOID:0112008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5004,12 +4391,9 @@ MONDO:0054731 spermatogenic failure 27 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054732 spermatogenic failure 28 oio:hasExactSynonym oio:hasRelatedSynonym SPGF28 DOID:0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618086 SPGF28 DOID:0111916 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054733 spermatogenic failure 29 oio:hasExactSynonym oio:hasRelatedSynonym SPGF29 DOID:0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618091 SPGF29 DOID:0111930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054736 mosaic variegated aneuploidy syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 3 MOSAIC variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome 3 DOID:0080689 mosaic variegated aneuploidy syndrome 3 OMIM:617598 MOSAIC variegated aneuploidy syndrome 3 DOID:0080689 -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome DOID:0090001 Fraser syndrome OMIM:219000 Fraser syndrome DOID:0090001 -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations DOID:0090001 Fraser syndrome OMIM:219000 cryptophthalmos with Other malformations DOID:0090001 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 DOID:0111405 Fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 FRASRS1 DOID:0111405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 DOID:0111407 Fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 FRASRS2 DOID:0111407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 DOID:0111406 Fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 FRASRS3 DOID:0111406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome DOID:0080344 blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome DOID:0080344 MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 DOID:0111497 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 COXPD34 DOID:0111497 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 DOID:0111464 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 COXPD35 DOID:0111464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054781 combined oxidative phosphorylation deficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym COXPD36 DOID:0111482 combined oxidative phosphorylation deficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617950 COXPD36 DOID:0111482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -5023,7 +4407,6 @@ MONDO:0054831 Coffin-Siris syndrome 7 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 Charcot-Marie-Tooth neuropathy, type 2Dd DOID:0111558 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease, axonal, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 Charcot-Marie-tooth disease, axonal, type 2DD DOID:0111558 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 CMT2DD DOID:0111558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome DOID:0070487 dopamine transporter deficiency syndrome OMIM:613135 dopamine transporter deficiency syndrome DOID:0070487 MONDO:0054843 ciliary dyskinesia, primary, 38 oio:hasExactSynonym oio:hasRelatedSynonym CILD38 DOID:0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618063 CILD38 DOID:0111852 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054844 pontocerebellar hypoplasia, type 1D oio:hasExactSynonym oio:hasRelatedSynonym PCH1D DOID:0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618065 PCH1D DOID:0112323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054846 epilepsy, familial adult myoclonic, 6 oio:hasExactSynonym oio:hasRelatedSynonym benign Adult Familial myoclonic epilepsy 6 benign Adult Familial myoclonic epilepsy 6 benign adult familial myoclonic epilepsy 6 DOID:0111696 familial adult myoclonic epilepsy 6 OMIM:618074 benign Adult Familial myoclonic epilepsy 6 DOID:0111696 @@ -5053,11 +4436,7 @@ MONDO:0100096 COVID-19 oio:hasExactSynonym oio:hasRelatedSynonym 2019 novel coro MONDO:0100130 adult acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ARDS DOID:11394 adult respiratory distress syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ORCID:0000-0002-2825-0621 ARDS DOID:11394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency DOID:0112225 BH4-deficient hyperphenylalaninemia B OMIM:233910 GTP cyclohydrolase 1 deficiency DOID:0112225 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym HPABH4B DOID:0112225 BH4-deficient hyperphenylalaninemia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:233910, MONDO:Lexical HPABH4B DOID:0112225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 oio:hasExactSynonym oio:hasBroadSynonym mitochondrial complex I deficiency DOID:0060536 mitochondrial complex I deficiency OMIM:252010 mitochondrial complex I deficiency DOID:0060536 -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome oio:hasExactSynonym oio:hasBroadSynonym HHS DOID:0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0111063 HHS DOID:0110698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100280 Waldenstrom macroglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym Waldenstroem's macroglobulinemia DOID:0060901 lymphoplasmacytic lymphoma DOID:0060901 Waldenstroem's macroglobulinemia DOID:0060901 -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques Orphanet:659 Olmsted syndrome DOID:0112011 -MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia DOID:12705 Friedreich ataxia OMIM:229300, OMIM:genemap2 Friedreich ataxia DOID:12705 MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial tumor DOID:3070 high grade glioma NCIT:C3059, DOID:3070 neuroglial tumor DOID:3070 MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym oio:hasBroadSynonym DHMN5 dHMN5 DHMN5 DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:139536 DHMN5 DOID:0111203 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic choreoathetosis DOID:0090053 episodic kinesigenic dyskinesia 1 OMIM:128200 paroxysmal kinesigenic choreoathetosis DOID:0090053 @@ -5069,19 +4448,12 @@ MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSy MONDO:0100452 RPE65-related dominant retinopathy oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa 87 with choroidal involvement DOID:0112144 retinitis pigmentosa 87 https://clinicalgenome.org/affiliation/40072/ retinitis pigmentosa 87 with choroidal involvement DOID:0112144 MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym oio:hasRelatedSynonym familiar ovarian carcinoma DOID:6901 familiar ovarian carcinoma DOID:6901 familiar ovarian carcinoma DOID:6901 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease Humeroperoneal neuromuscular disease humeroperoneal neuromuscular disease DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 OMIM:310300 Humeroperoneal neuromuscular disease DOID:0070246 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome DOID:0081073 Teebi hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome DOID:0081073 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 -MONDO:0800029 interstitial lung disease 2 oio:hasRelatedSynonym oio:hasExactSynonym IPF DOID:2797 idiopathic interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178500 IPF DOID:2797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasNarrowSynonym Hamman-rich disease Hamman-rich disease Hamman-Rich disease DOID:2800 acute interstitial pneumonia OMIM:178500 Hamman-rich disease DOID:2800 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy DOID:0060762 restrictive dermopathy Orphanet:1662 restrictive dermopathy DOID:0060762 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym oio:hasRelatedSynonym pascual-Castroviejo syndrome pascual-Castroviejo syndrome Pascual-Castroviejo syndrome DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome GARD:0001210 pascual-Castroviejo syndrome DOID:0081072 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 diphthamide deficiency syndrome OMIM:genemap2, OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome DOID:0070477 diphthamide deficiency syndrome 1 OMIM:616901 Loucks-Innes syndrome DOID:0070477 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 vanishing White matter leukodystrophy DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter DOID:0060868 vanishing white matter leukodystrophy DOID:0060868 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH/VWM DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000231 CACH/VWM DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 Cree leukoencephalopathy DOID:0070367 MONDO:0850289 human betaherpesvirus 5 infectious disease oio:hasExactSynonym oio:hasBroadSynonym human cytomegalovirus infection DOID:0080827 human cytomegalovirus infection DOID:0080827 human cytomegalovirus infection DOID:0080827 MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital insufficiency of mitral valve congenital insufficiency of mitral valve Congenital insufficiency of mitral valve DOID:11502 mitral valve insufficiency DOID:11502 congenital insufficiency of mitral valve DOID:11502 MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency DOID:11502 mitral valve insufficiency DOID:11502 congenital mitral insufficiency DOID:11502 @@ -5098,7 +4470,6 @@ MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American MONDO:0001875 epicondylitis oio:hasExactSynonym oio:hasRelatedSynonym tennis elbow tennis elbow Tennis elbow ICD10CM:M77.1 Lateral epicondylitis DOID:14087 tennis elbow ICD10CM:M77.1 MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym mycoses ICD10CM:B35-B49 Mycoses (B35-B49) DOID:1564 mycoses ICD10CM:B35-B49 MONDO:0002209 heel spur oio:hasExactSynonym oio:hasRelatedSynonym calcaneal spur calcaneal spur Calcaneal spur ICD10CM:M77.3 Calcaneal spur DOID:210, ICD9CM:726.73 calcaneal spur ICD10CM:M77.3 -MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism primary hyperaldosteronism Primary hyperaldosteronism ICD10CM:E26.0 Primary hyperaldosteronism DOID:446 primary hyperaldosteronism ICD10CM:E26.0 MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym sleep disorders sleep disorders Sleep disorders ICD10CM:G47 Sleep disorders MESH:D012893 sleep disorders ICD10CM:G47 MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of anterior surface of epiglottis malignant neoplasm of anterior surface of epiglottis Malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 Malignant neoplasm of anterior surface of epiglottis DOID:8133, MTH:U001374 malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of carotid body malignant neoplasm of carotid body Malignant neoplasm of carotid body ICD10CM:C75.4 Malignant neoplasm of carotid body NCIT:C3574 malignant neoplasm of carotid body ICD10CM:C75.4 @@ -5115,7 +4486,6 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile keratosis ICD10CM:L57.0 Actinic keratosis NCIT:C3148 senile keratosis ICD10CM:L57.0 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency ICD10CM:N18.9 Chronic kidney disease, unspecified NCIT:C80078 chronic renal insufficiency ICD10CM:N18.9 MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis ICD10CM:G35 Multiple sclerosis DOID:2377 generalized multiple sclerosis ICD10CM:G35 -MONDO:0005518 pseudohermaphroditism oio:hasExactSynonym oio:hasRelatedSynonym indeterminate sex and pseudohermaphroditism indeterminate sex and pseudohermaphroditism Indeterminate sex and pseudohermaphroditism ICD10CM:Q56 Indeterminate sex and pseudohermaphroditism DOID:3765 indeterminate sex and pseudohermaphroditism ICD10CM:Q56 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant neoplasm of renal pelvis ICD10CM:C65 Malignant neoplasm of renal pelvis DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer malignant neoplasm of renal pelvis ICD10CM:C65 MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial palsy ICD10CM:G51.0 Bell's palsy NCIT:C26769 facial palsy ICD10CM:G51.0 MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever ICD10CM:A23 Brucellosis DOID:11077 Malta fever ICD10CM:A23 @@ -5140,8 +4510,6 @@ MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynony MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, type 2 neurofibromatosis, type 2 Neurofibromatosis, type 2 ICD10CM:Q85.02 Neurofibromatosis, type 2 OMIM:101000 neurofibromatosis, type 2 ICD10CM:Q85.02 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 coarctation of aorta ICD10CM:Q25.1 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 coarctation of aorta ICD10CM:Q25.1 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica ICD10CM:A98.5 Hemorrhagic fever with renal syndrome OMIM:124100 nephropathia epidemica ICD10CM:A98.5 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria vibratory urticaria Vibratory urticaria ICD10CM:L50.4 Vibratory urticaria MESH:C536612 vibratory urticaria ICD10CM:L50.4 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188 autoimmune thyroiditis ICD10CM:E06.3 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis ICD10CM:E06.3 MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris ichthyosis vulgaris Ichthyosis vulgaris ICD10CM:Q80.0 Ichthyosis vulgaris OMIM:146700 ichthyosis vulgaris ICD10CM:Q80.0 @@ -5159,7 +4527,6 @@ MONDO:0010565 red color blindness oio:hasExactSynonym oio:hasRelatedSynonym prot MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged-RED fibers Myoclonic epilepsy associated with ragged-red fibers ICD10CM:E88.42 MERRF syndrome MONDO:Lexical, OMIM:545000 myoclonic epilepsy associated with ragged-RED fibers ICD10CM:E88.42 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia ICD10CM:A81.83 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA ICD10CM:A81.83 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym FFI ICD10CM:A81.83 Fatal familial insomnia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600072 FFI ICD10CM:A81.83 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011989 leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym post-kala-azar dermal leishmaniasis post-kala-azar dermal leishmaniasis Post-kala-azar dermal leishmaniasis ICD10CM:B55.0 Visceral leishmaniasis DOID:9065 post-kala-azar dermal leishmaniasis ICD10CM:B55.0 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency ICD10CM:E88.01 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency ICD10CM:E88.01 MONDO:0015947 inherited ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital ichthyosis congenital ichthyosis Congenital ichthyosis ICD10CM:Q80 Congenital ichthyosis congenital ichthyosis ICD10CM:Q80 @@ -5181,49 +4548,25 @@ MONDO:0000299 thelaziasis oio:hasExactSynonym oio:hasRelatedSynonym verminous op MONDO:0000303 conidiobolomycosis oio:hasExactSynonym oio:hasRelatedSynonym rhinoentomophthoromycosis rhinoentomophthoromycosis Rhinoentomophthoromycosis icd11.foundation:1326582778 Conidiobolomycosis rhinoentomophthoromycosis icd11.foundation:1326582778 MONDO:0000330 endemic typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:0050481 shop typhus icd11.foundation:4659958 MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome icd11.foundation:553392015 Short QT syndrome Orphanet:51083 familial short QT syndrome icd11.foundation:553392015 -MONDO:0000809 purpura fulminans oio:hasExactSynonym oio:hasRelatedSynonym fibrinolytic purpura fibrinolytic purpura Fibrinolytic purpura icd11.foundation:1622289887 Disseminated intravascular coagulation ORCID:0000-0002-6601-2165 fibrinolytic purpura icd11.foundation:1622289887 MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague icd11.foundation:1983098110 Pneumonic plague DOID:10398 primary pneumonic plague icd11.foundation:1983098110 -MONDO:0001046 imperforate anus oio:hasExactSynonym oio:hasRelatedSynonym anorectal malformations anorectal malformations Anorectal malformations icd11.foundation:942572025 Anorectal malformations GARD:0006769 anorectal malformations icd11.foundation:942572025 MONDO:0001078 tropical sprue oio:hasExactSynonym oio:hasRelatedSynonym tropical enteropathy icd11.foundation:316377284 Tropical sprue GARD:0007824 tropical enteropathy icd11.foundation:316377284 MONDO:0001099 lactocele oio:hasExactSynonym oio:hasRelatedSynonym lacteal cyst icd11.foundation:1987155556 Lactocele GARD:0008401 lacteal cyst icd11.foundation:1987155556 MONDO:0001103 giardiasis oio:hasExactSynonym oio:hasRelatedSynonym lambliasis icd11.foundation:433310499 Giardiasis MESH:D005873 lambliasis icd11.foundation:433310499 MONDO:0001109 petrositis oio:hasExactSynonym oio:hasRelatedSynonym inflammation of petrous bone icd11.foundation:716546173 Petrositis DOID:10755 inflammation of petrous bone icd11.foundation:716546173 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym classical typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 classical typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym epidemic louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 epidemic louse-borne typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym epidemic louse-borne typhus fever due to Rickettsia prowazekii epidemic louse-borne typhus fever due to Rickettsia prowazekii Epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym famine fever icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 famine fever icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 louse-borne typhus icd11.foundation:295798687 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Mexican typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 Mexican typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 Urban typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 endemic typhus fever icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 flea-borne typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 murine typhus icd11.foundation:4659958 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 shop typhus icd11.foundation:4659958 MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's itch icd11.foundation:648519873 Cercarial dermatitis GARD:0009747 swimmer's itch icd11.foundation:648519873 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis NORD:1601 Posterior Uveitis icd11.foundation:1884626736 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis MONDO:ambiguous, NCIT:C35111 posterior uveitis icd11.foundation:1884626736 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis icd11.foundation:1365585570 Chagas disease DOID:12140 American trypanosomiasis icd11.foundation:1365585570 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym south American trypanosomiasis south American trypanosomiasis South American trypanosomiasis icd11.foundation:1365585570 Chagas disease south American trypanosomiasis icd11.foundation:1365585570 MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis icd11.foundation:307264938 Lymphocytic choriomeningitis DOID:12155 lymphocytic meningitis icd11.foundation:307264938 -MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea icd11.foundation:2132180242 Huntington disease DOID:12859 hereditary chorea icd11.foundation:2132180242 -MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis icd11.foundation:1032655599 Gonococcal prostatitis DOID:13943 gonococcal prostatitis icd11.foundation:1032655599 -MONDO:0001881 toxic shock syndrome oio:hasExactSynonym oio:hasRelatedSynonym staphylococcal toxic shock syndrome staphylococcal toxic shock syndrome Staphylococcal toxic shock syndrome icd11.foundation:788554020 Staphylococcal toxic shock syndrome GARD:0009560 staphylococcal toxic shock syndrome icd11.foundation:788554020 MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome icd11.foundation:156523187 FG syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome icd11.foundation:156523187 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis icd11.foundation:2071113448 Acute cholecystitis GARD:0000030 acalculous cholecystitis icd11.foundation:2071113448 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute cholecystitis icd11.foundation:2071113448 Acute cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis icd11.foundation:2071113448 -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy transient arthropathy Transient arthropathy icd11.foundation:404860910 Transient arthropathy NCIT:C35761 transient arthropathy icd11.foundation:404860910 -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic bronchitis icd11.foundation:290835130 Chronic bronchitis DOID:6132 chronic bronchitis icd11.foundation:290835130 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 fibrodysplasia ossificans progressiva icd11.foundation:2102976705 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 progressive myositis ossificans icd11.foundation:2102976705 MONDO:0004651 smallpox oio:hasExactSynonym oio:hasRelatedSynonym Variola icd11.foundation:2054716425 Smallpox GARD:0007444 Variola icd11.foundation:2054716425 MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm ringworm Ringworm icd11.foundation:1802307036 Dermatophytosis Wikipedia:Dermatophytosis ringworm icd11.foundation:1802307036 MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis icd11.foundation:1076459084 Chronic ethmoidal sinusitis DOID:9312 chronic ethmoiditis icd11.foundation:1076459084 -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia areata icd11.foundation:65720611 Alopecia areata NCIT:C50575 alopecia areata icd11.foundation:65720611 MONDO:0004910 mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym systolic click-murmur syndrome icd11.foundation:1085590500 Mitral valve prolapse DOID:988 systolic click-murmur syndrome icd11.foundation:1085590500 MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion icd11.foundation:1871672644 Gastritis DOID:4029 acute gastric mucosal erosion icd11.foundation:1871672644 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 congestive cardiomyopathy icd11.foundation:1916294688 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 primary dilated cardiomyopathy icd11.foundation:1916294688 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective disorder icd11.foundation:106339515 Schizoaffective disorder OMIM:181500 schizoaffective disorder icd11.foundation:106339515 MONDO:0005152 hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym pituitary hypofunction icd11.foundation:768216194 Hypopituitarism DOID:9406 pituitary hypofunction icd11.foundation:768216194 MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia icd11.foundation:142052508 Pneumonia DOID:552 acute pneumonia icd11.foundation:142052508 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency icd11.foundation:412389819 Chronic kidney disease NCIT:C80078 chronic renal insufficiency icd11.foundation:412389819 @@ -5233,7 +4576,6 @@ MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin intoxication with clostridium botulinum toxin icd11.foundation:78422942 Botulism DOID:11976 intoxication with Clostridium botulinum toxin icd11.foundation:78422942 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym solitary myeloma solitary myeloma Solitary myeloma icd11.foundation:1811140613 Solitary plasmacytoma DOID:3721 solitary myeloma icd11.foundation:1811140613 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma icd11.foundation:1811140613 Solitary plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 solitary plasmacytoma icd11.foundation:1811140613 -MONDO:0005638 agnosia oio:hasExactSynonym oio:hasRelatedSynonym dyspraxia syndrome icd11.foundation:986651951 Apraxia DOID:4090 dyspraxia syndrome icd11.foundation:986651951 MONDO:0005654 ascariasis oio:hasExactSynonym oio:hasRelatedSynonym Ascaris lumbricoides infection Ascaris lumbricoides infection ascaris lumbricoides infection icd11.foundation:17842540 Ascariasis DOID:456 Ascaris lumbricoides infection icd11.foundation:17842540 MONDO:0005662 balantidiasis oio:hasExactSynonym oio:hasRelatedSynonym Balantidium coli infection Balantidium coli infection balantidium coli infection icd11.foundation:2090337975 Infections due to Balantidium coli GARD:0000809 Balantidium coli infection icd11.foundation:2090337975 MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever icd11.foundation:730510331 Brucellosis DOID:11077 Malta fever icd11.foundation:730510331 @@ -5248,17 +4590,13 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym mud fever MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym swamp fever icd11.foundation:751399056 Leptospirosis GARD:0007881 swamp fever icd11.foundation:751399056 MONDO:0005844 chalazion oio:hasExactSynonym oio:hasRelatedSynonym Meibomian cyst icd11.foundation:777918741 Chalazion MESH:D017043 Meibomian cyst icd11.foundation:777918741 MONDO:0005846 microsporidiosis oio:hasExactSynonym oio:hasRelatedSynonym Microsporidiasis Microsporidiasis microsporidiasis icd11.foundation:1021483422 Microsporidiosis GARD:0003655 Microsporidiasis icd11.foundation:1021483422 -MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym oio:hasRelatedSynonym lobo disease lobo disease Lobo disease icd11.foundation:566562143 Lobomycosis GARD:0007323 lobo disease icd11.foundation:566562143 MONDO:0005895 paragonimiasis oio:hasExactSynonym oio:hasRelatedSynonym Paragonimus westermani infection Paragonimus westermani infection paragonimus westermani infection icd11.foundation:1422824299 Paragonimiasis GARD:0009815 Paragonimus westermani infection icd11.foundation:1422824299 MONDO:0005915 pityriasis versicolor oio:hasExactSynonym oio:hasRelatedSynonym tinea versicolor tinea versicolor Tinea versicolor icd11.foundation:67108853 Pityriasis versicolor MESH:D014010 tinea versicolor icd11.foundation:67108853 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym trichocephaliasis trichocephaliasis Trichocephaliasis icd11.foundation:422746556 Trichuriasis GARD:0010720 trichocephaliasis icd11.foundation:422746556 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection icd11.foundation:422746556 Trichuriasis GARD:0010720 whipworm infection icd11.foundation:422746556 MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever icd11.foundation:608978790 Venezuelan equine encephalitis DOID:9584, ICD9CM:066.2 Venezuelan equine fever icd11.foundation:608978790 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym non-cardiogenic pulmonary oedema icd11.foundation:1466842111 Adult acute respiratory distress syndrome http://purl.obolibrary.org/obo/OMO_0003005 non-cardiogenic pulmonary oedema icd11.foundation:1466842111 MONDO:0006572 lichen planus oio:hasExactSynonym oio:hasRelatedSynonym ruber planus icd11.foundation:1402978031 Lichen planus ruber planus icd11.foundation:1402978031 -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina miliaria crystallina Miliaria crystallina icd11.foundation:796835029 Miliaria crystallina DOID:11153 miliaria crystallina icd11.foundation:796835029 MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis icd11.foundation:908233081 Anterior uveitis Orphanet:280886 iridocyclitis icd11.foundation:908233081 -MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome icd11.foundation:1300118676 Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome icd11.foundation:1300118676 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome icd11.foundation:1606151456 Lateral medullary syndrome GARD:0009263 Lateral medullary syndrome icd11.foundation:1606151456 MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym oio:hasRelatedSynonym meconium inhalation icd11.foundation:872221482 Neonatal aspiration of meconium MESH:D008471 meconium inhalation icd11.foundation:872221482 MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma icd11.foundation:1988933820 Myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma icd11.foundation:1988933820 @@ -5267,24 +4605,16 @@ MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eag MONDO:0007037 Achondroplasia oio:hasExactSynonym oio:hasRelatedSynonym Achondroplastic dwarfism Achondroplastic dwarfism achondroplastic dwarfism icd11.foundation:24224082 Achondroplasia GARD:0008173 Achondroplastic dwarfism icd11.foundation:24224082 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, central type neurofibromatosis, central type Neurofibromatosis, central type icd11.foundation:14808714 Neurofibromatosis type 2 OMIM:101000 neurofibromatosis, central type icd11.foundation:14808714 MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome Acro-dermato-ungual-lacrimal-tooth syndrome icd11.foundation:1445741645 ADULT syndrome OMIM:103285 acro-dermato-ungual-lacrimal-Tooth syndrome icd11.foundation:1445741645 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome icd11.foundation:1321054364 Scimitar syndrome DOID:4297 scimitar syndrome icd11.foundation:1321054364 MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy icd11.foundation:896652469 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 SVEINSSON chorioretinal atrophy icd11.foundation:896652469 MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma Congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 Epidermolytic ichthyosis GARD:0001039 congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma icd11.foundation:1556608523 Hepatoblastoma OMIM:114550 hepatoblastoma icd11.foundation:1556608523 MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome icd11.foundation:1475063064 Cerebrocostomandibular syndrome OMIM:117650 CEREBROCOSTOMANDIBULAR syndrome icd11.foundation:1475063064 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome icd11.foundation:543218573 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 popliteal pterygium syndrome icd11.foundation:543218573 MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta icd11.foundation:1524185114 Coarctation of aorta OMIM:120000 coarctation of aorta icd11.foundation:1524185114 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc icd11.foundation:592278969 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc icd11.foundation:592278969 -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria icd11.foundation:1664486132 Harderoporphyria OMIM:121300 Harderoporphyria icd11.foundation:1664486132 MONDO:0007403 inherited Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease icd11.foundation:607607042 Genetic Creutzfeldt-Jakob disease MONDO:Lexical, OMIM:123400 Creutzfeldt-Jakob disease icd11.foundation:607607042 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym 5p minus syndrome icd11.foundation:620584190 Cri-du-chat syndrome GARD:0006213 5p minus syndrome icd11.foundation:620584190 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cat Cry syndrome Cat Cry syndrome cat cry syndrome icd11.foundation:620584190 Cri-du-chat syndrome OMIM:123450 Cat Cry syndrome icd11.foundation:620584190 MONDO:0007405 Crouzon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Crouzon disease icd11.foundation:1535725821 Crouzon disease GARD:0006206 Crouzon disease icd11.foundation:1535725821 -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica icd11.foundation:1059069619 Haemorrhagic fever with renal syndrome OMIM:124100 nephropathia epidemica icd11.foundation:1059069619 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus icd11.foundation:1009553897 Central diabetes insipidus NCIT:C84933 neurogenic diabetes insipidus icd11.foundation:1009553897 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva icd11.foundation:2102976705 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome icd11.foundation:2132105652 Tukel syndrome DOID:0080143 Tukel syndrome icd11.foundation:2132105652 -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens icd11.foundation:567796529 Retinitis punctata albescens DOID:11105, OMIM:136880 retinitis punctata albescens icd11.foundation:567796529 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome icd11.foundation:119340957 Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome icd11.foundation:119340957 MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tourette disorder icd11.foundation:119340957 Tourette syndrome OMIM:137580 Tourette disorder icd11.foundation:119340957 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto struma Hashimoto struma hashimoto struma icd11.foundation:972507934 Hashimoto thyroiditis OMIM:140300, MESH:D050031 Hashimoto struma icd11.foundation:972507934 @@ -5292,8 +4622,6 @@ MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymp MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm icd11.foundation:353312397 Hemifacial spasm Orphanet:221083 hemifacial spasm icd11.foundation:353312397 MONDO:0007737 humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humero-radial synostosis humero-radial synostosis Humero-radial synostosis icd11.foundation:518723993 Humero-radial synostosis Orphanet:3265 humero-radial synostosis icd11.foundation:518723993 MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema icd11.foundation:1491245207 Keratolytic winter erythema OMIM:148370 keratolytic WINTER erythema icd11.foundation:1491245207 -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia icd11.foundation:670519908 Macroglossia OMIM:153630 macroglossia icd11.foundation:670519908 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa OMIM:154800 urticaria pigmentosa icd11.foundation:245322245 MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis icd11.foundation:1342578560 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS icd11.foundation:1342578560 MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis icd11.foundation:2066427602 Ankylosis of teeth OMIM:157950 dental ankylosis icd11.foundation:2066427602 MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome OMIM:158320 MUIR-Torre syndrome icd11.foundation:229304403 @@ -5301,7 +4629,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia icd11.foundation:1984860886 Gnathodiaphyseal dysplasia OMIM:166260 GNATHODIAPHYSEAL dysplasia icd11.foundation:1984860886 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dermatoosteopoikilosis icd11.foundation:1556522143 Buschke-Ollendorff syndrome OMIM:166700 Dermatoosteopoikilosis icd11.foundation:1556522143 -MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis icd11.foundation:679955609 Hereditary elliptocytosis Orphanet:98868 hereditary ovalocytosis icd11.foundation:679955609 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym Eulenburg disease icd11.foundation:1740060527 Paramyotonia congenita GARD:0007325 Eulenburg disease icd11.foundation:1740060527 MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign familial pemphigus icd11.foundation:818400628 Hailey-Hailey disease GARD:0006559 benign familial pemphigus icd11.foundation:818400628 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome icd11.foundation:726317303 Kindler syndrome OMIM:173650 KINDLER syndrome icd11.foundation:726317303 @@ -5309,18 +4636,13 @@ MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 medullary cystic disease icd11.foundation:216863438 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 medullary cystic kidney disease icd11.foundation:216863438 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD MCKD mckd icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 MCKD icd11.foundation:216863438 -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone icd11.foundation:1704766818 Fibrous dysplasia of bone NCIT:C34609 fibrous dysplasia of bone icd11.foundation:1704766818 MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym hydroxymethylbilane synthase deficiency hydroxymethylbilane synthase deficiency Hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 Acute intermittent porphyria GARD:0005732 hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphobilinogen deaminase deficiency porphobilinogen deaminase deficiency Porphobilinogen deaminase deficiency icd11.foundation:1565229118 Acute intermittent porphyria OMIM:176000 porphobilinogen deaminase deficiency icd11.foundation:1565229118 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 porphyria cutanea tarda icd11.foundation:370983230 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria, Hepatocutaneous type porphyria, Hepatocutaneous type Porphyria, hepatocutaneous type icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 porphyria, Hepatocutaneous type icd11.foundation:370983230 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata icd11.foundation:1227474618 Variegate porphyria OMIM:176200 porphyria variegata icd11.foundation:1227474618 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea icd11.foundation:271430543 Ring dermoid of cornea OMIM:180550 RING dermoid of cornea icd11.foundation:271430543 MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome icd11.foundation:88843032 Scalp-ear-nipple syndrome OMIM:181270 scalp-EAR-nipple syndrome icd11.foundation:88843032 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome icd11.foundation:642409035 Stiff skin syndrome OMIM:184900 STIFF skin syndrome icd11.foundation:642409035 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OVERHYDRATED hereditary stomatocytosis OVERHYDRATED hereditary stomatocytosis Overhydrated hereditary stomatocytosis icd11.foundation:595647587 Overhydrated hereditary stomatocytosis OMIM:185000 OVERHYDRATED hereditary stomatocytosis icd11.foundation:595647587 -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type icd11.foundation:234032200 Craniosynostosis, Philadelphia type OMIM:185900 craniosynostosis, Philadelphia type icd11.foundation:234032200 -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia rheumatica icd11.foundation:103940897 Polymyalgia rheumatica OMIM:187360 polymyalgia rheumatica icd11.foundation:103940897 MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym cranial arteritis icd11.foundation:1929970386 Giant cell arteritis OMIM:187360 cranial arteritis icd11.foundation:1929970386 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym Fallot tetralogy icd11.foundation:90973426 Tetralogy of Fallot GARD:0002245 Fallot tetralogy icd11.foundation:90973426 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot icd11.foundation:90973426 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT icd11.foundation:90973426 @@ -5334,15 +4656,12 @@ MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008747 oculocutaneous albinism type 3 oio:hasExactSynonym oio:hasRelatedSynonym Xanthism icd11.foundation:1565320806 Oculocutaneous albinism type 3 GARD:0009641, OMIM:203290 Xanthism icd11.foundation:1565320806 MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym alexanders leukodystrophy alexanders leukodystrophy Alexanders leukodystrophy icd11.foundation:2023359698 Alexander disease GARD:0005774 alexanders leukodystrophy icd11.foundation:2023359698 MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym deficiency of homogentisicase icd11.foundation:1761652827 Alkaptonuria DOID:9270 deficiency of homogentisicase icd11.foundation:1761652827 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly icd11.foundation:1740361952 Aprosencephaly Orphanet:3469 atelencephaly icd11.foundation:1740361952 MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency icd11.foundation:439383288 Argininosuccinic aciduria OMIM:207900 argininosuccinate lyase deficiency icd11.foundation:439383288 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome icd11.foundation:37248895 Barber-Say syndrome OMIM:209885 BARBER-SAY syndrome icd11.foundation:37248895 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency MESH:C537079, Orphanet:572, GARD:0000824 Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency by defective expression of HLA class 2 immunodeficiency by defective expression of HLA class 2 Immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency Orphanet:572 immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease icd11.foundation:1000683110 Thromboangiitis obliterans OMIM:211480 BUERGER disease icd11.foundation:1000683110 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis icd11.foundation:1457142642 Progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis icd11.foundation:1457142642 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency icd11.foundation:677949122 Carnitine-acylcarnitine translocase deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency icd11.foundation:677949122 -MONDO:0009009 hypoplasminogenemia oio:hasExactSynonym oio:hasRelatedSynonym ligneous conjunctivitis ligneous conjunctivitis Ligneous conjunctivitis icd11.foundation:1464324556 Ligneous conjunctivitis OMIM:217090, ORCID:0000-0001-9310-0163 ligneous conjunctivitis icd11.foundation:1464324556 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess icd11.foundation:1737310323 Apparent mineralocorticoid excess OMIM:218030 apparent mineralocorticoid EXCESS icd11.foundation:1737310323 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome icd11.foundation:1650688177 Baller-Gerold syndrome OMIM:218600 BALLER-Gerold syndrome icd11.foundation:1650688177 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease GARD:0012867 Cushing disease icd11.foundation:380861892 @@ -5368,7 +4687,6 @@ MONDO:0009262 GM1 gangliosidosis type 3 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ethylmalonic-Adipicaciduria ethylmalonic-Adipicaciduria Ethylmalonic-adipicaciduria icd11.foundation:977130875 Multiple acyl-CoA dehydrogenase deficiency OMIM:231680 ethylmalonic-Adipicaciduria icd11.foundation:977130875 MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-glomerular basement membrane antibody disease icd11.foundation:591736785 Anti-glomerular basement membrane antibody mediated disease GARD:0002551 anti-glomerular basement membrane antibody disease icd11.foundation:591736785 MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency oio:hasExactSynonym oio:hasRelatedSynonym Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined growth factor deficiency icd11.foundation:1235390174 Lipodystrophy due to peptidic growth factors deficiency OMIM:233805 Werner-like syndrome due to combined Growth Factor deficiency icd11.foundation:1235390174 -MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease icd11.foundation:1528863768 Hodgkin lymphoma OMIM:236000 Hodgkin disease icd11.foundation:1528863768 MONDO:0009451 Nezelof syndrome oio:hasExactSynonym oio:hasRelatedSynonym thymic aplasia thymic aplasia Thymic aplasia icd11.foundation:215376282 Nezelof syndrome OMIM:242700 thymic aplasia icd11.foundation:215376282 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome icd11.foundation:1427330812 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome icd11.foundation:1427330812 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebello-oculo-renal syndrome cerebello-oculo-renal syndrome Cerebello-oculo-renal syndrome icd11.foundation:397835469 Joubert syndrome with oculorenal defect GARD:0009455 cerebello-oculo-renal syndrome icd11.foundation:397835469 @@ -5379,7 +4697,6 @@ MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 hyalinosis cutis Et mucosae icd11.foundation:326368380 MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda icd11.foundation:1850911834 Mal de Meleda OMIM:248300 MAL DE Meleda icd11.foundation:1850911834 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia icd11.foundation:1687046570 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia icd11.foundation:1687046570 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy icd11.foundation:1756335062 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 MANDIBULOACRAL dysplasia with type A lipodystrophy icd11.foundation:1756335062 MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency icd11.foundation:1944256516 Alpha-mannosidosis OMIM:248500 lysosomal Alpha-D-mannosidase deficiency icd11.foundation:1944256516 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency Lysosomal beta-mannosidase deficiency icd11.foundation:1578707401 Beta-mannosidosis OMIM:248510 lysosomal Beta-mannosidase deficiency icd11.foundation:1578707401 @@ -5392,16 +4709,9 @@ MONDO:0009610 3-methylglutaconic aciduria type 1 oio:hasExactSynonym oio:hasRela MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A OMIM:252900 heparan sulfate sulfatase deficiency icd11.foundation:182200345 MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym N-Acetyl-Alpha-D-glucosaminidase deficiency N-Acetyl-Alpha-D-glucosaminidase deficiency N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B OMIM:252920 N-Acetyl-Alpha-D-glucosaminidase deficiency icd11.foundation:117303909 MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 Mucopolysaccharidosis type 3D GARD:0007074 N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia icd11.foundation:673220507 Myelofibrosis with myeloid metaplasia OMIM:254450, Orphanet:824 myelofibrosis with myeloid metaplasia icd11.foundation:673220507 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis icd11.foundation:1061366491 AL amyloidosis OMIM:254500 Al amyloidosis icd11.foundation:1061366491 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome icd11.foundation:1014397110 Juvenile myoclonic epilepsy DOID:4890, OMIM:254770 Janz syndrome icd11.foundation:1014397110 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease icd11.foundation:1797493665 Netherton syndrome OMIM:256500 Netherton disease icd11.foundation:1797493665 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis icd11.foundation:1154773192 Sialidosis type 1 OMIM:256550 lipomucopolysaccharidosis icd11.foundation:1154773192 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type 1 mucolipidosis type 1 Mucolipidosis type 1 icd11.foundation:1180347697 Sialidosis GARD:0007183 mucolipidosis type 1 icd11.foundation:1180347697 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis icd11.foundation:1180347697 Sialidosis DOID:3343 sialidosis icd11.foundation:1180347697 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis icd11.foundation:979972142 Glycoproteinosis DOID:3343 glycoproteinosis icd11.foundation:979972142 MONDO:0009742 neuroectodermal melanolysosomal disease oio:hasExactSynonym oio:hasRelatedSynonym ELEJALDE disease ELEJALDE disease Elejalde disease icd11.foundation:771734461 Neuroectodermal melanolysosomal disease OMIM:256710 ELEJALDE disease icd11.foundation:771734461 -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelinase deficiency sphingomyelinase deficiency Sphingomyelinase deficiency icd11.foundation:398872780 Niemann-Pick disease OMIM:257200 sphingomyelinase deficiency icd11.foundation:398872780 MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia icd11.foundation:2147268863 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 OPSISMODYSPLASIA icd11.foundation:2147268863 MONDO:0009787 3-methylglutaconic aciduria type 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy plus syndrome optic atrophy plus syndrome Optic atrophy plus syndrome icd11.foundation:535412248 3-methylglutaconic aciduria type 3 OMIM:258501 optic atrophy plus syndrome icd11.foundation:535412248 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria icd11.foundation:449856959 Hereditary orotic aciduria Orphanet:30 hereditary orotic aciduria icd11.foundation:449856959 @@ -5409,29 +4719,18 @@ MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital lipomatosis of pancreas congenital lipomatosis of pancreas Congenital lipomatosis of pancreas icd11.foundation:232885463 Shwachman-Diamond syndrome GARD:0004863 congenital lipomatosis of pancreas icd11.foundation:232885463 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis GARD:0007708 Dawson encephalitis icd11.foundation:1098683540 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Subacute sclerosing leukoencephalitis subacute sclerosing leukoencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis icd11.foundation:1098683540 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma icd11.foundation:1128449352 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus icd11.foundation:1959912502 Choroid plexus tumours OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus icd11.foundation:1959912502 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym imbecilitus phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria imbecilitus phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia Phenylpyruvica oligophrenia Phenylpyruvica oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria OMIM:261600 oligophrenia Phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria oligophrenia phenylpyruvica icd11.foundation:2084504393 -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym phenylpyruvic oligophrenia icd11.foundation:2084504393 Classical phenylketonuria phenylpyruvic oligophrenia icd11.foundation:2084504393 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence icd11.foundation:136361299 Pierre Robin syndrome OMIM:261800, MESH:D010855 Pierre Robin sequence icd11.foundation:136361299 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome icd11.foundation:136361299 Pierre Robin syndrome MONDO:Lexical, OMIM:261800 Pierre Robin syndrome icd11.foundation:136361299 MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome icd11.foundation:1665498704 Short stature due to growth hormone qualitative anomaly OMIM:262650 KOWARSKI syndrome icd11.foundation:1665498704 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum icd11.foundation:1516160852 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum icd11.foundation:1516160852 -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome icd11.foundation:834369371 Multiple pterygium syndrome OMIM:265000, GARD:0007111 multiple pterygium syndrome icd11.foundation:834369371 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary atresia with intact ventricular septum icd11.foundation:131289265 Pulmonary atresia with intact ventricular septum OMIM:265150 pulmonary atresia with intact ventricular septum icd11.foundation:131289265 MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic aciduria icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria OMIM:266130 pyroglutamic aciduria icd11.foundation:2005562438 -MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym ataxia with lactic acidosis 2 icd11.foundation:1124597954 Pyruvate dehydrogenase complex deficiency OMIM:266150 ataxia with lactic acidosis 2 icd11.foundation:1124597954 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency icd11.foundation:2047948460 Pyruvate carboxylase deficiency OMIM:266150 pyruvate carboxylase deficiency icd11.foundation:2047948460 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis icd11.foundation:191424358 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 renal tubular dysgenesis icd11.foundation:191424358 MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma congenitale poikiloderma congenitale Poikiloderma congenitale icd11.foundation:652761118 Rothmund-Thomson syndrome GARD:0004392 poikiloderma congenitale icd11.foundation:652761118 MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym total hexosaminidase deficiency total hexosaminidase deficiency Total hexosaminidase deficiency icd11.foundation:708581915 Sandhoff disease GARD:0007604 total hexosaminidase deficiency icd11.foundation:708581915 MONDO:0010074 brachyolmia type 1, toledo type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 1, Toledo type brachyolmia type 1, Toledo type Brachyolmia type 1, Toledo type icd11.foundation:637954533 Brachyolmia type 1, Toledo type OMIM:271630, MONDO:Lexical brachyolmia type 1, Toledo type icd11.foundation:637954533 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease Canavan-van Bogaert-Bertrand disease icd11.foundation:1576870846 Canavan disease OMIM:271900 Canavan-Van Bogaert-Bertrand disease icd11.foundation:1576870846 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system icd11.foundation:1576870846 Canavan disease OMIM:271900 spongy Degeneration of central nervous system icd11.foundation:1576870846 -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis icd11.foundation:1947032348 Infantile bilateral striatal necrosis OMIM:271930 infantile bilateral striatal necrosis icd11.foundation:1947032348 MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency icd11.foundation:848083807 Mucosulfatidosis MONDO:Lexical, OMIM:272200 multiple sulfatase deficiency icd11.foundation:848083807 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome icd11.foundation:1989471300 Filippi syndrome OMIM:272440 FILIPPI syndrome icd11.foundation:1989471300 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease icd11.foundation:215008783 Tay-Sachs disease OMIM:272800 TAY-Sachs disease icd11.foundation:215008783 @@ -5440,9 +4739,6 @@ MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym tyrosine transaminase deficiency tyrosine transaminase deficiency Tyrosine transaminase deficiency icd11.foundation:1900229795 Tyrosinaemia type 2 OMIM:276600 tyrosine transaminase deficiency icd11.foundation:1900229795 MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency urocanase deficiency Urocanase deficiency icd11.foundation:61773927 Urocanic aciduria OMIM:276880, MONDO:Lexical urocanase deficiency icd11.foundation:61773927 MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome icd11.foundation:2042913723 Weaver syndrome OMIM:277590 WEAVER syndrome icd11.foundation:2042913723 -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy icd11.foundation:1360335041 Wernicke encephalopathy NCIT:C35764 Wernicke encephalopathy icd11.foundation:1360335041 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenoleukodystrophy adrenoleukodystrophy Adrenoleukodystrophy icd11.foundation:1085655586 Adrenoleukodystrophy MONDO:Lexical, OMIM:300100 adrenoleukodystrophy icd11.foundation:1085655586 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy icd11.foundation:1214673956 Adrenomyeloneuropathy OMIM:300100 adrenomyeloneuropathy icd11.foundation:1214673956 MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALLAN-Herndon-DUDLEY syndrome ALLAN-Herndon-DUDLEY syndrome Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome OMIM:300523 ALLAN-Herndon-DUDLEY syndrome icd11.foundation:56813604 MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 X-linked myopathy with postural muscle atrophy OMIM:300696 Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease icd11.foundation:290885874 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 BORNHOLM eye disease icd11.foundation:290885874 @@ -5457,23 +4753,17 @@ MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome icd11.foundation:937544163 Early-onset parkinsonism - intellectual deficit MONDO:Lexical, OMIM:311510 WAISMAN syndrome icd11.foundation:937544163 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym juvenile retinoschisis juvenile retinoschisis Juvenile retinoschisis icd11.foundation:2074506458 Juvenile retinoschisis GARD:0004690 juvenile retinoschisis icd11.foundation:2074506458 MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym focal lipid cardiomyopathy icd11.foundation:1870618141 Histiocytoid cardiomyopathy GARD:0009511 focal lipid cardiomyopathy icd11.foundation:1870618141 -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia plus syndrome icd11.foundation:1698427219 Progressive external ophthalmoplegia GARD:0006817 ophthalmoplegia plus syndrome icd11.foundation:1698427219 MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculocraniosomatic syndrome icd11.foundation:399100745 Kearns-Sayre syndrome OMIM:530000 oculocraniosomatic syndrome icd11.foundation:399100745 MONDO:0010794 NARP syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, ataxia, and retinitis pigmentosa neuropathy, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 Neuropathy, ataxia, and retinitis pigmentosa OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 MONDO:0010805 bladder exstrophy oio:hasExactSynonym oio:hasRelatedSynonym exstrophy of bladder icd11.foundation:1927556258 Exstrophy of urinary bladder OMIM:600057 exstrophy of bladder icd11.foundation:1927556258 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia icd11.foundation:669154658 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA icd11.foundation:669154658 MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym loose anagen hair syndrome loose anagen hair syndrome Loose anagen hair syndrome icd11.foundation:547259783 Loose anagen syndrome OMIM:600628 loose anagen hair syndrome icd11.foundation:547259783 -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia icd11.foundation:2056675356 Anotia MESH:D065817 anotia icd11.foundation:2056675356 MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome icd11.foundation:1740735985 Van den Ende-Gupta syndrome OMIM:600920 VAN DEN Ende-Gupta syndrome icd11.foundation:1740735985 MONDO:0011017 Naxos disease oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 Naxos disease OMIM:601214 keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency icd11.foundation:952591271 Mucopolysaccharidosis type 9 OMIM:601492 hyaluronidase deficiency icd11.foundation:952591271 MONDO:0011244 Marshall-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall-SMITH syndrome Marshall-SMITH syndrome Marshall-Smith syndrome icd11.foundation:417951600 Marshall-Smith syndrome OMIM:602535 Marshall-SMITH syndrome icd11.foundation:417951600 -MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 icd11.foundation:119724091 Type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical DM2 icd11.foundation:119724091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym pauciarticular juvenile arthritis icd11.foundation:1990556904 Juvenile idiopathic oligoarthritis DOID:676 pauciarticular juvenile arthritis icd11.foundation:1990556904 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy icd11.foundation:1491869639 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy icd11.foundation:1491869639 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial allergic rhinitis icd11.foundation:1273917262 Perennial allergic rhinitis DOID:4481 perennial allergic rhinitis icd11.foundation:1273917262 MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy icd11.foundation:868183264 Psoriatic arthritis DOID:9008 psoriatic arthropathy icd11.foundation:868183264 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukaemia chronic myelomonocytic leukaemia Chronic myelomonocytic leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 chronic myelomonocytic leukaemia icd11.foundation:2073226578 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type B lipodystrophy MANDIBULOACRAL dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy icd11.foundation:1199517264 Mandibuloacral dysplasia with type B lipodystrophy OMIM:608612 MANDIBULOACRAL dysplasia with type B lipodystrophy icd11.foundation:1199517264 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dopa decarboxylase deficiency Dopa decarboxylase deficiency DOPA decarboxylase deficiency icd11.foundation:1134258245 Aromatic L-amino acid decarboxylase deficiency OMIM:608643 Dopa decarboxylase deficiency icd11.foundation:1134258245 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency icd11.foundation:1018083832 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency icd11.foundation:1018083832 @@ -5490,56 +4780,34 @@ MONDO:0013164 beta-ureidopropionase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome icd11.foundation:833375162 Warsaw breakage syndrome OMIM:613398 WARSAW breakage syndrome icd11.foundation:833375162 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency icd11.foundation:824872160 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency icd11.foundation:824872160 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency icd11.foundation:11281354 Pancreatic colipase deficiency OMIM:614338 pancreatic colipase deficiency icd11.foundation:11281354 MONDO:0013873 IMAGe syndrome oio:hasExactSynonym oio:hasRelatedSynonym intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 IMAGe syndrome GARD:0012312 intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency oio:hasExactSynonym oio:hasNarrowSynonym isolated ATP synthase deficiency isolated ATP synthase deficiency Isolated ATP synthase deficiency icd11.foundation:902255625 Isolated ATP synthase deficiency Orphanet:254913 isolated ATP synthase deficiency icd11.foundation:902255625 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour laryngeal neuroendocrine tumour Laryngeal neuroendocrine tumour icd11.foundation:1502591214 Laryngeal endocrine tumour http://purl.obolibrary.org/obo/OMO_0003005 laryngeal neuroendocrine tumour icd11.foundation:1502591214 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency icd11.foundation:1616506198 Combined immunodeficiencies Orphanet:101972 combined T and B cell immunodeficiency icd11.foundation:1616506198 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann disease icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 Kostmann disease icd11.foundation:421553273 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 Kostmann syndrome icd11.foundation:421553273 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 amyoplasia congenita icd11.foundation:1930990330 MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 congenital amyoplasia icd11.foundation:1930990330 MONDO:0015228 pentasomy X oio:hasExactSynonym oio:hasRelatedSynonym Pentasomy X syndrome Pentasomy X syndrome pentasomy x syndrome icd11.foundation:2087864894 Pentasomy X GARD:0005678 Pentasomy X syndrome icd11.foundation:2087864894 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis icd11.foundation:592711730 Chronic obliterative bronchiolitis Orphanet:1303, DOID:2799 obliterative bronchiolitis icd11.foundation:592711730 MONDO:0015274 chronic beryllium disease oio:hasExactSynonym oio:hasRelatedSynonym beryllium disease icd11.foundation:212013370 Berylliosis GARD:0000867 beryllium disease icd11.foundation:212013370 MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasRelatedSynonym Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 Carney complex GARD:0001119 Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy early juvenile type icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis amaurotic idiocy early juvenile type icd11.foundation:1716107919 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy late infantile type icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis amaurotic idiocy late infantile type icd11.foundation:1923920542 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky syndrome dollinger-Bielschowsky syndrome Dollinger-Bielschowsky syndrome icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis dollinger-Bielschowsky syndrome icd11.foundation:1923920542 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky type neuronal ceroid lipofuscinosis dollinger-Bielschowsky type neuronal ceroid lipofuscinosis Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 MONDO:0015772 trisomy 8q oio:hasExactSynonym oio:hasRelatedSynonym 8q duplication icd11.foundation:573390171 8q duplication GARD:0005362 8q duplication icd11.foundation:573390171 -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 Hoyeraal-Hreidarsson syndrome GARD:0010905 Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia icd11.foundation:172733763 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia congenital adrenal hyperplasia icd11.foundation:172733763 MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym oio:hasRelatedSynonym embryofetopathy due to oral anticoagulant therapy embryofetopathy due to oral anticoagulant therapy Embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 Embryofetopathy due to oral anticoagulant therapy GARD:0008580 embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 MONDO:0016013 fetal methylmercury syndrome oio:hasExactSynonym oio:hasRelatedSynonym Minamata disease icd11.foundation:1975519045 Fetal methylmercury syndrome Orphanet:1917 Minamata disease icd11.foundation:1975519045 MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease icd11.foundation:327350590 Rippling muscle disease with myasthenia gravis Orphanet:206575 acquired rippling muscle disease icd11.foundation:327350590 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia atrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 myotonia atrophica icd11.foundation:192087511 MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia dystrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 myotonia dystrophica icd11.foundation:192087511 -MONDO:0016158 narcolepsy-cataplexy syndrome oio:hasExactSynonym oio:hasRelatedSynonym narcoleptic syndrome icd11.foundation:1201727099 Narcolepsy GARD:0007162 narcoleptic syndrome icd11.foundation:1201727099 -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome icd11.foundation:646523932 Neuromyotonia DOID:963 Isaacs syndrome icd11.foundation:646523932 -MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine disease icd11.foundation:1237620397 Cystinuria GARD:0006236 cystine disease icd11.foundation:1237620397 MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine diathesis cystine diathesis Cystine diathesis icd11.foundation:733715856 Cystinosis GARD:0006236 cystine diathesis icd11.foundation:733715856 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia icd11.foundation:774373615 Alternating hemiplegia GARD:0000011 alternating hemiplegia icd11.foundation:774373615 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis icd11.foundation:544509908 Adult dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis icd11.foundation:544509908 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis icd11.foundation:727262285 Amyopathic dermatomyositis DOID:10223, MESH:C538250 Amyopathic dermatomyositis icd11.foundation:727262285 MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSynonym familial cerebral saccular aneurysm familial cerebral saccular aneurysm Familial cerebral saccular aneurysm icd11.foundation:59881644 Familial cerebral saccular aneurysm Orphanet:231160 familial cerebral saccular aneurysm icd11.foundation:59881644 MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic adenomatoid malformation congenital cystic adenomatoid malformation Congenital cystic adenomatoid malformation icd11.foundation:2091138945 Congenital pulmonary airway malformations GARD:0006232 congenital cystic adenomatoid malformation icd11.foundation:2091138945 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis icd11.foundation:870477963 Aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis icd11.foundation:870477963 MONDO:0016812 dopa-responsive dystonia oio:hasExactSynonym oio:hasRelatedSynonym DYT5 icd11.foundation:1534901505 Dopa-responsive dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009817 DYT5 icd11.foundation:1534901505 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele icd11.foundation:1200528084 Myelomeningocele NCIT:C101201 myelomeningocele icd11.foundation:1200528084 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida icd11.foundation:187581000 Spina bifida aperta MESH:D016137 open spina bifida icd11.foundation:187581000 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 spina bifida aperta icd11.foundation:187581000 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida manifesta spina bifida manifesta Spina bifida manifesta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 spina bifida manifesta icd11.foundation:187581000 -MONDO:0017086 primary tethered cord syndrome oio:hasExactSynonym oio:hasRelatedSynonym occult spinal dysraphism occult spinal dysraphism Occult spinal dysraphism icd11.foundation:449489594 Occult spinal dysraphism GARD:0004018 occult spinal dysraphism icd11.foundation:449489594 MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym onchocercosis icd11.foundation:106136071 Onchocerciasis onchocercosis icd11.foundation:106136071 MONDO:0017194 Blount disease oio:hasExactSynonym oio:hasRelatedSynonym tibia vara icd11.foundation:138830223 Blount disease GARD:0000916 tibia vara icd11.foundation:138830223 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis echinococcosis Echinococcosis icd11.foundation:1456802165 Echinococcosis GARD:0000207 echinococcosis icd11.foundation:1456802165 -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis DOID:12148 echinococcus multilocularis infection icd11.foundation:1456802165 MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym post polio syndrome icd11.foundation:2018885243 Post polio progressive muscular atrophy GARD:0004454 post polio syndrome icd11.foundation:2018885243 -MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym oio:hasRelatedSynonym fifth disease fifth disease Fifth disease icd11.foundation:352375140 Erythema infectiosum GARD:0004236 fifth disease icd11.foundation:352375140 MONDO:0017471 congenital patella dislocation oio:hasExactSynonym oio:hasRelatedSynonym congenital patellar dislocation icd11.foundation:1383302301 Congenital patella dislocation GARD:0009692 congenital patellar dislocation icd11.foundation:1383302301 -MONDO:0017720 GM2 gangliosidosis oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 Tay-Sachs disease GARD:0002522 GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease icd11.foundation:2129350166 Melioidosis GARD:0009546 Whitmore disease icd11.foundation:2129350166 MONDO:0017776 nocardiosis oio:hasExactSynonym oio:hasRelatedSynonym Nocardia infection Nocardia infection nocardia infection icd11.foundation:6555116 Nocardiosis GARD:0007210 Nocardia infection icd11.foundation:6555116 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma icd11.foundation:71413945 Malignant peripheral nerve sheath tumour of cranial or paraspinal nerves NCIT:C3798, Orphanet:3148 neurofibrosarcoma icd11.foundation:71413945 @@ -5551,55 +4819,41 @@ MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy synd MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy d1 trisomy icd11.foundation:1435958084 Complete trisomy 13 NCIT:C36529, DOID:11665 D1 trisomy icd11.foundation:1435958084 MONDO:0018103 Quinquaud's folliculitis decalvans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis decalvans folliculitis decalvans Folliculitis decalvans icd11.foundation:1454811046 Folliculitis decalvans GARD:0000373 folliculitis decalvans icd11.foundation:1454811046 MONDO:0018150 Gaucher disease oio:hasExactSynonym oio:hasRelatedSynonym cerebroside lipidosis syndrome cerebroside lipidosis syndrome Cerebroside lipidosis syndrome icd11.foundation:1923566939 Gaucher disease cerebroside lipidosis syndrome icd11.foundation:1923566939 -MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis Orphanet:391504 neonatal myasthenia gravis icd11.foundation:1274860004 MONDO:0018334 chronic hiccup oio:hasExactSynonym oio:hasRelatedSynonym chronic hiccups chronic hiccups Chronic hiccups icd11.foundation:1300687612 Chronic hiccups GARD:0006657 chronic hiccups icd11.foundation:1300687612 -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome icd11.foundation:131153029 Adrenogenital disorders NCIT:C34360 adrenogenital syndrome icd11.foundation:131153029 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym creeping eruption creeping eruption Creeping eruption icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 creeping eruption icd11.foundation:657025682 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym dew itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 dew itch icd11.foundation:657025682 MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym ground itch ground itch Ground itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 ground itch icd11.foundation:657025682 MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis icd11.foundation:1152878652 Hereditary amyloidosis GARD:0006611 familial amyloidosis icd11.foundation:1152878652 MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym oio:hasRelatedSynonym pure progressive muscular atrophy icd11.foundation:1282359533 Progressive muscular atrophy DOID:318 pure progressive muscular atrophy icd11.foundation:1282359533 -MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym ocular pemphigoid ocular pemphigoid Ocular pemphigoid icd11.foundation:953963439 Mucous membrane pemphigoid with ocular involvement SCTID:34250006, DOID:11656 ocular pemphigoid icd11.foundation:953963439 MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria icd11.foundation:1932140025 Familial cold autoinflammatory syndrome Orphanet:47045 familial cold urticaria icd11.foundation:1932140025 MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy icd11.foundation:554018956 Asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy icd11.foundation:554018956 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym keratosis pilaris keratosis pilaris Keratosis pilaris icd11.foundation:1614890502 Keratosis pilaris MESH:C537412, GARD:0001042, OMIM:604093 keratosis pilaris icd11.foundation:1614890502 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes icd11.foundation:1628738474 Berardinelli-Seip congenital lipodystrophy Orphanet:528 lipoatrophic diabetes icd11.foundation:1628738474 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalised lipodystrophy congenital generalised lipodystrophy Congenital generalised lipodystrophy icd11.foundation:641763399 Congenital generalised lipodystrophy http://purl.obolibrary.org/obo/OMO_0003005 congenital generalised lipodystrophy icd11.foundation:641763399 MONDO:0018895 Plummer-Vinson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Paterson-Kelly syndrome icd11.foundation:1568337509 Plummer-Vinson syndrome GARD:0008259 Paterson-Kelly syndrome icd11.foundation:1568337509 MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism icd11.foundation:1654321425 Cushing syndrome Orphanet:553 hypercortisolism icd11.foundation:1654321425 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia icd11.foundation:771587091 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia icd11.foundation:771587091 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 DiGeorge sequence icd11.foundation:1868156761 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 DiGeorge syndrome icd11.foundation:1868156761 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 velocardiofacial syndrome icd11.foundation:1868156761 MONDO:0018924 microphthalmia, Lenz type oio:hasExactSynonym oio:hasRelatedSynonym syndromic microphthalmia type 1 syndromic microphthalmia type 1 Syndromic microphthalmia type 1 icd11.foundation:678242327 Microphthalmia, Lenz type GARD:0000087 syndromic microphthalmia type 1 icd11.foundation:678242327 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B DOID:12801 N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 DOID:12804 galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenia icd11.foundation:1515367530 Congenital myasthenic syndromes GARD:0011902 congenital myasthenia icd11.foundation:1515367530 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy icd11.foundation:946166369 Molar pregnancy NCIT:C3110, DOID:3590 molar pregnancy icd11.foundation:946166369 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans icd11.foundation:1294270721 Myotonia fluctuans OMIM:608390 Myotonia Fluctuans icd11.foundation:1294270721 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens icd11.foundation:2133644550 Myotonia permanens OMIM:608390 Myotonia Permanens icd11.foundation:2133644550 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen disease icd11.foundation:337970533 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease icd11.foundation:337970533 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, peripheral type neurofibromatosis, peripheral type Neurofibromatosis, peripheral type icd11.foundation:337970533 Neurofibromatosis type 1 OMIM:162200 neurofibromatosis, peripheral type icd11.foundation:337970533 MONDO:0018978 IgG4-related mediastinitis oio:hasExactSynonym oio:hasRelatedSynonym idiopathic mediastinal fibrosis icd11.foundation:123840075 Fibrosing mediastinitis GARD:0008337 idiopathic mediastinal fibrosis icd11.foundation:123840075 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym stress-induced cardiomyopathy stress-induced cardiomyopathy Stress-induced cardiomyopathy icd11.foundation:478139552 Stress-induced cardiomyopathy GARD:0009400 stress-induced cardiomyopathy icd11.foundation:478139552 MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Fragilitas ossium icd11.foundation:1219932551 Osteogenesis imperfecta DOID:12347 Fragilitas ossium icd11.foundation:1219932551 -MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Vrolik disease icd11.foundation:2024049157 Osteogenesis imperfecta type 2 GARD:0001017 Vrolik disease icd11.foundation:2024049157 MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym infection by Yersinia pestis infection by Yersinia pestis infection by yersinia pestis icd11.foundation:1596449540 Plague infection by Yersinia pestis icd11.foundation:1596449540 MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym pestilential fever icd11.foundation:1596449540 Plague pestilential fever icd11.foundation:1596449540 MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome icd11.foundation:744293382 Neuromyelitis optica GARD:0006267 Devic syndrome icd11.foundation:744293382 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency icd11.foundation:381622932 MONDO:0019155 Leydig cell hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 Leydig cell hypoplasia GARD:0003244 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 -MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency icd11.foundation:1366882206 Vitamin B12 deficiency DOID:0050731 cobalamin deficiency icd11.foundation:1366882206 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder icd11.foundation:1919322367 Disorders of peroxisome biogenesis ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder icd11.foundation:1919322367 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym disorders of peroxisome biogenesis disorders of peroxisome biogenesis Disorders of peroxisome biogenesis icd11.foundation:1919322367 Disorders of peroxisome biogenesis GARD:0009473 disorders of peroxisome biogenesis icd11.foundation:1919322367 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis icd11.foundation:600146417 Lamellar ichthyosis DOID:1699 lamellar ichthyosis icd11.foundation:600146417 MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma icd11.foundation:1796778763 Microcystic lymphatic malformation Orphanet:79490 capillary lymphangioma icd11.foundation:1796778763 MONDO:0019350 hereditary spherocytosis oio:hasExactSynonym oio:hasRelatedSynonym congenital spherocytosis icd11.foundation:1305248013 Hereditary spherocytosis GARD:0006639 congenital spherocytosis icd11.foundation:1305248013 MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym sao Paulo typhus sao Paulo typhus Sao Paulo typhus icd11.foundation:215936800 Spotted fever due to Rickettsia rickettsii DOID:0050052 sao Paulo typhus icd11.foundation:215936800 MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym Mite-borne typhus Mite-borne typhus mite-borne typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 Mite-borne typhus icd11.foundation:1695340384 MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym tropical typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 tropical typhus icd11.foundation:1695340384 MONDO:0019399 Isaac syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuromyotonia neuromyotonia Neuromyotonia icd11.foundation:646523932 Neuromyotonia GARD:0006793 neuromyotonia icd11.foundation:646523932 -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Beta-2-microglobulin amyloidosis Beta-2-microglobulin amyloidosis beta-2-microglobulin amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis GARD:0010563 Beta-2-microglobulin amyloidosis icd11.foundation:448754119 MONDO:0019444 trichinellosis oio:hasExactSynonym oio:hasRelatedSynonym trichiniasis trichiniasis Trichiniasis icd11.foundation:284613639 Trichinosis GARD:0005250 trichiniasis icd11.foundation:284613639 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 Acute myeloid leukaemia with myelodysplasia-related changes http://purl.obolibrary.org/obo/OMO_0003005 acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym aggressive NK cell leukaemia aggressive NK cell leukaemia Aggressive NK cell leukaemia icd11.foundation:153957345 Aggressive NK cell leukaemia http://purl.obolibrary.org/obo/OMO_0003005 aggressive NK cell leukaemia icd11.foundation:153957345 @@ -5611,15 +4865,12 @@ MONDO:0019547 Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wells' sy MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid lupus erythematosus icd11.foundation:153320433 Lupus erythematosus tumidus GARD:0013003 tumid lupus erythematosus icd11.foundation:153320433 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym von Willebrand disease von Willebrand disease Von Willebrand disease icd11.foundation:2112021600 Von Willebrand disease DOID:12531, Orphanet:903 von Willebrand disease icd11.foundation:2112021600 MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular haemophilia vascular haemophilia Vascular haemophilia icd11.foundation:2112021600 Von Willebrand disease http://purl.obolibrary.org/obo/OMO_0003005 vascular haemophilia icd11.foundation:2112021600 -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym oio:hasRelatedSynonym postpartum panhypopituitary syndrome icd11.foundation:768216194 Hypopituitarism GARD:0007630 postpartum panhypopituitary syndrome icd11.foundation:768216194 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 +MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome icd11.foundation:1575072695 MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome icd11.foundation:20634476 VIPoma Orphanet:97282 WDHA syndrome icd11.foundation:20634476 MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym oio:hasNarrowSynonym nonsyndromic pontocerebellar hypoplasia nonsyndromic pontocerebellar hypoplasia Nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 Pontocerebellar hypoplasia ORCID:0000-0002-6601-2165, Orphanet:98523 nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukaemia acute myelomonocytic leukaemia Acute myelomonocytic leukaemia icd11.foundation:1613358778 Acute myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 acute myelomonocytic leukaemia icd11.foundation:1613358778 MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired pure red cell aplasia icd11.foundation:45753120 Acquired pure red cell aplasia GARD:0010898 acquired pure red cell aplasia icd11.foundation:45753120 MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym oio:hasRelatedSynonym ostium secundum atrial septal defect ostium secundum atrial septal defect Ostium secundum atrial septal defect icd11.foundation:1875768490 Atrial septal defect within oval fossa GARD:0005865 ostium secundum atrial septal defect icd11.foundation:1875768490 -MONDO:0020492 hemimegalencephaly oio:hasExactSynonym oio:hasRelatedSynonym macrencephaly macrencephaly Macrencephaly icd11.foundation:368780653 Megalencephaly GARD:0002637 macrencephaly icd11.foundation:368780653 MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis DOID:12096 spirillosis icd11.foundation:1104357482 MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis DOID:13238 Streptobacillosis icd11.foundation:614000128 MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym Capillary pneumonia Capillary pneumonia capillary pneumonia icd11.foundation:1310075986 Acute bronchiolitis UMLS:C0001311 Capillary pneumonia icd11.foundation:1310075986 @@ -5636,7 +4887,6 @@ MONDO:0020971 gonococcal urethritis oio:hasExactSynonym oio:hasRelatedSynonym Go MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous Prostatitis Granulomatous Prostatitis Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis NCIT:C26789 Granulomatous Prostatitis icd11.foundation:66037326 MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis UMLS:C0018204 Granulomatous prostatitis icd11.foundation:66037326 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia icd11.foundation:988250063 Hereditary hyperekplexia Orphanet:3197 hyperekplexia icd11.foundation:988250063 -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute respiratory failure icd11.foundation:875272781 Acute respiratory failure NCIT:C27043, DOID:11162 acute respiratory failure icd11.foundation:875272781 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus Hypertrophic Lichen Planus Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus NCIT:C34779 Hypertrophic Lichen Planus icd11.foundation:1096967508 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 Hypertrophic lichen planus icd11.foundation:1096967508 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Lichen planus hypertrophicus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 Lichen planus hypertrophicus icd11.foundation:1096967508 @@ -5681,8 +4931,6 @@ MONDO:0024333 sciatica oio:hasExactSynonym oio:hasRelatedSynonym sciatic neuralg MONDO:0024346 pityriasis amiantacea oio:hasExactSynonym oio:hasRelatedSynonym tinea amiantacea tinea amiantacea Tinea amiantacea icd11.foundation:210953452 Pityriasis amiantacea tinea amiantacea icd11.foundation:210953452 MONDO:0024652 embryonic cyst of fallopian tube oio:hasExactSynonym oio:hasRelatedSynonym cyst of mesenteric remnant icd11.foundation:440178290 Embryonic cyst of fallopian tube cyst of mesenteric remnant icd11.foundation:440178290 MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type oio:hasExactSynonym oio:hasRelatedSynonym SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE Spondyloepiphyseal dysplasia, Nishimura type icd11.foundation:523290419 Spondyloepiphyseal dysplasia, Nishimura type OMIM:618618 SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE icd11.foundation:523290419 -MONDO:0041751 multibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym lepromatous leprosy lepromatous leprosy Lepromatous leprosy icd11.foundation:365370459 Lepromatous leprosy PMID:27219008, ORCID:0000-0002-6601-2165 lepromatous leprosy icd11.foundation:365370459 -MONDO:0041752 paucibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym tuberculoid leprosy tuberculoid leprosy Tuberculoid leprosy icd11.foundation:310697776 Tuberculoid leprosy ORCID:0000-0002-6601-2165, PMID:27219008 tuberculoid leprosy icd11.foundation:310697776 MONDO:0042981 aortic valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular aortic stenosis icd11.foundation:956813047 Aortic valve stenosis GARD:0005830 valvular aortic stenosis icd11.foundation:956813047 MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossalgia glossalgia Glossalgia icd11.foundation:1755751917 Glossodynia glossalgia icd11.foundation:1755751917 MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossopyrosis glossopyrosis Glossopyrosis icd11.foundation:1755751917 Glossodynia MESH:D005926 glossopyrosis icd11.foundation:1755751917 @@ -5699,20 +4947,9 @@ MONDO:0043765 presbycusis oio:hasExactSynonym oio:hasRelatedSynonym senile deafn MONDO:0043783 sclerema neonatorum oio:hasExactSynonym oio:hasRelatedSynonym underwood's disease underwood's disease Underwood's disease icd11.foundation:1470028414 Sclerema neonatorum underwood's disease icd11.foundation:1470028414 MONDO:0043919 radiation pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym radiation pneumonia icd11.foundation:1914397767 Radiation pneumonitis MESH:D017564 radiation pneumonia icd11.foundation:1914397767 MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis icd11.foundation:1920929898 Acquired adrenocortical insufficiency NCIT:C113814 autoimmune adrenalitis icd11.foundation:1920929898 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome icd11.foundation:1685926536 Haddad syndrome OMIM:209880 Haddad syndrome icd11.foundation:1685926536 MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym oio:hasRelatedSynonym NLS NCIT:C14089 Nuclear Localization Signal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000102 NLS NCIT:C14089 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant interstitial cell tumor malignant interstitial cell tumor Malignant Interstitial Cell Tumor NCIT:C4213 Malignant Leydig Cell Tumor DOID:0050616 malignant interstitial cell tumor NCIT:C4213 MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym paranasal sinus cancer paranasal sinus cancer Paranasal Sinus Cancer NCIT:C6014 Paranasal Sinus Carcinoma MONDO:patterns/location, NCIT:C6014 paranasal sinus cancer NCIT:C6014 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mucoepidermoid carcinoma of accessory sinus mucoepidermoid carcinoma of accessory sinus Mucoepidermoid Carcinoma of Accessory Sinus NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 mucoepidermoid carcinoma of accessory sinus NCIT:C6018 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus mucoepidermoid carcinoma paranasal sinus mucoepidermoid carcinoma Paranasal Sinus Mucoepidermoid Carcinoma NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 paranasal sinus mucoepidermoid carcinoma NCIT:C6018 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 adenoid cystic carcinoma of accessory sinus NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of paranasal sinus adenoid cystic carcinoma of paranasal sinus Adenoid Cystic Carcinoma of Paranasal Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 adenoid cystic carcinoma of paranasal sinus NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma Paranasal Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 paranasal sinus adenoid cystic carcinoma NCIT:C6019 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of paranasal sinus malignant neoplasm of paranasal sinus Malignant Neoplasm of Paranasal Sinus NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer malignant neoplasm of paranasal sinus NCIT:C7487 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant paranasal sinus neoplasm malignant paranasal sinus neoplasm Malignant Paranasal Sinus Neoplasm NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer malignant paranasal sinus neoplasm NCIT:C7487 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym epidermoid carcinoma of the paranasal sinus epidermoid carcinoma of the paranasal sinus Epidermoid Carcinoma of the Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 epidermoid carcinoma of the paranasal sinus NCIT:C8193 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma Paranasal Sinus Squamous Cell Carcinoma NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 paranasal sinus squamous cell carcinoma NCIT:C8193 -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus Squamous Cell Carcinoma of Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 squamous cell carcinoma of paranasal sinus NCIT:C8193 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system NET NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system neuroendocrine tumor NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system well differentiated neuroendocrine tumor digestive system well differentiated neuroendocrine tumor Digestive System Well Differentiated Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 digestive system well differentiated neuroendocrine tumor NCIT:C95404 @@ -5721,150 +4958,57 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal NET gastrointestinal NET Gastrointestinal NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal NET NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal neuroendocrine tumor gastrointestinal neuroendocrine tumor Gastrointestinal Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal neuroendocrine tumor NCIT:C95404 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal system neuroendocrine tumor gastrointestinal system neuroendocrine tumor Gastrointestinal System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 gastrointestinal system neuroendocrine tumor NCIT:C95404 -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome fetal alcohol syndrome Fetal Alcohol Syndrome NCIT:C84713 Fetal Alcohol Syndrome MESH:D063647 fetal alcohol syndrome NCIT:C84713 MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar Ataxia NCIT:C82341 Spinocerebellar Ataxia spinocerebellar ataxia NCIT:C82341 -MONDO:0000448 paraganglioma oio:hasExactSynonym oio:hasNarrowSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma DOID:0050773 chemodectoma NCIT:C2932 MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis spasmodic torticollis Spasmodic Torticollis NCIT:C85072 Spasmodic Torticollis DOID:0050840 spasmodic torticollis NCIT:C85072 MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ NCIT:C136486 bronchioloalveolar carcinoma NCIT:C136486 -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma NCIT:C136486 bronchioloalveolar carcinoma NCIT:C2923 -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm NCIT:C9272 salivary gland cancer NCIT:C3811 MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma NCIT:C9272 salivary gland cancer NCIT:C9272 -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction NCIT:C3114 allergic reaction NCIT:C114476 MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitive sensitive Sensitive NCIT:C3114 Hypersensitivity NCIT:C3114 sensitive NCIT:C3114 MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitivity sensitivity Sensitivity NCIT:C3114 Hypersensitivity NCIT:C3114 sensitivity NCIT:C3114 -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm of soft tissue neoplasm of soft tissue Neoplasm of Soft Tissue NCIT:C3377 Soft Tissue Neoplasm DOID:0060123 neoplasm of soft tissue NCIT:C3377 -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of the soft tissue tumor of the soft tissue Tumor of the Soft Tissue NCIT:C3377 Soft Tissue Neoplasm NCIT:C3377, DOID:0060123 tumor of the soft tissue NCIT:C3377 MONDO:0000675 pain agnosia oio:hasExactSynonym oio:hasRelatedSynonym analgesia analgesia Analgesia NCIT:C125664 Pain Agnosia DOID:0060145 analgesia NCIT:C125664 MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym disorder of organic acid metabolism disorder of organic acid metabolism Disorder of Organic Acid Metabolism NCIT:C101334 Organic Acid Metabolism Disorder NCIT:C101334 disorder of organic acid metabolism NCIT:C101334 MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym organic acid metabolism disorder organic acid metabolism disorder Organic Acid Metabolism Disorder NCIT:C101334 Organic Acid Metabolism Disorder DOID:0060159 organic acid metabolism disorder NCIT:C101334 MONDO:0000741 angular cheilitis oio:hasExactSynonym oio:hasRelatedSynonym cheilosis cheilosis Cheilosis NCIT:C112198 Angular Cheilitis NCIT:C112198, DOID:0060312 cheilosis NCIT:C112198 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C8644 -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C9140 MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9143 B acute lymphoblastic leukemia NCIT:C9143 MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X metabolic syndrome X Metabolic Syndrome X NCIT:C84442 Metabolic Syndrome NCIT:C84442 metabolic syndrome X NCIT:C84442 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3167 MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C3168 -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C3168 acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C3183 MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C7953 -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia NCIT:C7953 T acute lymphoblastic leukemia NCIT:C9142 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C8644 MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C9140 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9140 B acute lymphoblastic leukemia NCIT:C9143 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C4861 -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C4861 MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia NCIT:C8263 acute monocytic leukemia NCIT:C8263 -MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis DOID:0080178 mucositis NCIT:C115965 MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis DOID:0080178 mucositis NCIT:C3853 MONDO:0000922 pelvic inflammatory disease oio:hasExactSynonym oio:hasRelatedSynonym pelvic infection pelvic infection Pelvic Infection NCIT:C3889 Pelvic Inflammatory Disease NCIT:C3889 pelvic infection NCIT:C3889 -MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym normokalemic periodic paralysis normokalemic periodic paralysis Normokalemic Periodic Paralysis NCIT:C122791 Normokalemic Periodic Paralysis MESH:D010245 normokalemic periodic paralysis NCIT:C122791 -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML NCIT:C3174 Chronic Myeloid Leukemia, BCR-ABL1 Positive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 CML NCIT:C3174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye lazy eye Lazy Eye NCIT:C118764 Amblyopia NCIT:C118764 lazy eye NCIT:C118764 -MONDO:0001056 gastric cancer oio:hasExactSynonym oio:hasBroadSynonym gastric neoplasm gastric neoplasm Gastric Neoplasm NCIT:C3387 Gastric Neoplasm DOID:10534, NCIT:C3387 gastric neoplasm NCIT:C3387 -MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph node neoplasm lymph node neoplasm Lymph Node Neoplasm NCIT:C35497 Lymph Node Neoplasm NCIT:C35497, DOID:10619 lymph node neoplasm NCIT:C35497 -MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome adult Fanconi syndrome Adult Fanconi Syndrome NCIT:C4377 Adult Fanconi Syndrome DOID:1062 adult Fanconi syndrome NCIT:C4377 MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym mediastinal neuroblastoma mediastinal neuroblastoma Mediastinal Neuroblastoma NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 mediastinal neuroblastoma NCIT:C6628 MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym neuroblastoma of the mediastinum neuroblastoma of the mediastinum Neuroblastoma of the Mediastinum NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 neuroblastoma of the mediastinum NCIT:C6628 MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele spinal meningocele NCIT:C101209 -MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101214 Spina Bifida spinal meningocele NCIT:C101214 -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the bladder tumor of the bladder Tumor of the Bladder NCIT:C2901 Bladder Neoplasm DOID:11054, NCIT:C2901 tumor of the bladder NCIT:C2901 MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation arteriovenous malformation Arteriovenous Malformation NCIT:C2882 Arteriovenous Malformation/Hemangioma DOID:11294 arteriovenous malformation NCIT:C2882 MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's Itch NCIT:C128349 Cercarial Dermatitis GARD:0009747 swimmer's itch NCIT:C128349 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis NCIT:C35111 Posterior Uveitis NORD:1601 Posterior Uveitis NCIT:C35111 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior Uveitis NCIT:C35111 Posterior Uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis NCIT:C35111 MONDO:0001302 hypertensive heart disease oio:hasExactSynonym oio:hasRelatedSynonym hypertensive cardiomegaly hypertensive cardiomegaly Hypertensive Cardiomegaly NCIT:C4907 Hypertensive Cardiomegaly hypertensive cardiomegaly NCIT:C4907 -MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial Tumor NCIT:C4651 Pericardial Neoplasm NCIT:C4651, DOID:116 pericardial tumor NCIT:C4651 -MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm penile neoplasm Penile Neoplasm NCIT:C3317 Penile Neoplasm DOID:11615 penile neoplasm NCIT:C3317 -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym Cardiac tumor Cardiac tumor Cardiac Tumor NCIT:C3081 Heart Neoplasm DOID:117, NCIT:C3081 Cardiac tumor NCIT:C3081 -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of heart tumor of heart Tumor of Heart NCIT:C3081 Heart Neoplasm DOID:117 tumor of heart NCIT:C3081 -MONDO:0001398 ureter benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym ureteral tumor ureteral tumor Ureteral Tumor NCIT:C3427 Ureter Neoplasm DOID:11885, NCIT:C3427 ureteral tumor NCIT:C3427 -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vagina neoplasm vagina neoplasm Vagina Neoplasm NCIT:C3437 Vaginal Neoplasm DOID:119 vagina neoplasm NCIT:C3437 -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm NCIT:C3437, DOID:119 vaginal tumor NCIT:C3437 -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm nerve sheath neoplasm Nerve Sheath Neoplasm NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 nerve sheath neoplasm NCIT:C4972 -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath tumors nerve sheath tumors Nerve Sheath Tumors NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 nerve sheath tumors NCIT:C4972 -MONDO:0001407 tracheal cancer oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:11920 tracheal neoplasm NCIT:C3419 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis American trypanosomiasis American Trypanosomiasis NCIT:C84629 Chagas Disease DOID:12140 American trypanosomiasis NCIT:C84629 MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale Cor pulmonale Cor Pulmonale NCIT:C34478 Cor Pulmonale NCIT:C34478 Cor pulmonale NCIT:C34478 MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer retroperitoneal cancer Retroperitoneal Cancer NCIT:C7352 Retroperitoneal Carcinoma NCIT:C7352 retroperitoneal cancer NCIT:C7352 -MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva neoplasm of vulva Neoplasm of Vulva NCIT:C3443 Vulvar Neoplasm DOID:1245 neoplasm of vulva NCIT:C3443 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Hurler syndrome Hurler Syndrome NCIT:C61261 Hurler Syndrome DOID:12802 Hurler syndrome NCIT:C61261 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym MPS I NCIT:C85053 Mucopolysaccharidosis Type I GARD:0010335 MPS I NCIT:C85053 MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I mucopolysaccharidosis I Mucopolysaccharidosis I NCIT:C85053 Mucopolysaccharidosis Type I DOID:12802 mucopolysaccharidosis I NCIT:C85053 MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign lymphoepithelial lesion of the salivary gland benign lymphoepithelial lesion of the salivary gland Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 benign lymphoepithelial lesion of the salivary gland NCIT:C3949 MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign salivary gland lymphoepithelial lesion benign salivary gland lymphoepithelial lesion Benign Salivary Gland Lymphoepithelial Lesion NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 benign salivary gland lymphoepithelial lesion NCIT:C3949 MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora Cancer NCIT:C9364 Labia Minora Carcinoma NCIT:C9364, DOID:1293 labia minora cancer NCIT:C9364 MONDO:0001651 scrotum squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of scrotum squamous cell carcinoma of scrotum Squamous Cell Carcinoma of Scrotum NCIT:C4643 Scrotal Squamous Cell Carcinoma DOID:13159 squamous cell carcinoma of scrotum NCIT:C4643 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasRelatedSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm DOID:1319, NCIT:C4952 primary brain neoplasm NCIT:C170814 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym brain neoplasm brain neoplasm Brain Neoplasm NCIT:C2907 Brain Neoplasm DOID:1319 brain neoplasm NCIT:C2907 -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brain tumor of the brain Tumor of the Brain NCIT:C2907 Brain Neoplasm DOID:1319, NCIT:C2907 tumor of the brain NCIT:C2907 MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym exocrine pancreas insufficiency exocrine pancreas insufficiency Exocrine Pancreas Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 exocrine pancreas insufficiency NCIT:C84316 MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency pancreatic insufficiency Pancreatic Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 pancreatic insufficiency NCIT:C84316 MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease choroid disease Choroid Disease NCIT:C34468 Choroid Disorder DOID:1417 choroid disease NCIT:C34468 -MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency NCIT:C27142 Selective IgG Immunodeficiency NCIT:C27142, DOID:14176 selective IgG immunodeficiency NCIT:C27142 MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym blindness blindness Blindness NCIT:C97109 Blindness DOID:1432 blindness NCIT:C97109 MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection inner ear infection Inner Ear Infection NCIT:C128369 Labyrinthitis DOID:3930 inner ear infection NCIT:C128369 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCIT:C148366 -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria, mut type methylmalonic aciduria, mut type Methylmalonic Aciduria, Mut Type NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 methylmalonic aciduria, mut type NCIT:C148366 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental disorder mental disorder Mental Disorder NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental disorder NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental dysfunction mental dysfunction Mental Dysfunction NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental dysfunction NCIT:C2893 MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental illness mental illness Mental Illness NCIT:C2893 Psychiatric Disorder NCIT:C2893 mental illness NCIT:C2893 -MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis DOID:1508, ICD9CM:112.5 disseminated candidiasis NCIT:C116812 MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma NCIT:C4910 colon cancer NCIT:C4910 -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer head and neck cancer Head and Neck Cancer NCIT:C4013 Malignant Head and Neck Neoplasm NCIT:C35850 head and neck cancer NCIT:C4013 MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym fungal infection fungal infection Fungal Infection NCIT:C3245 Fungal Infection NCIT:C3245 fungal infection NCIT:C3245 -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia melancholia Melancholia NCIT:C34812 Melancholic Depression MESH:D003866 melancholia NCIT:C34812 -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma pineal region germinoma Pineal Region Germinoma NCIT:C8712 Pineal Region Germinoma GARD:0012017 pineal region germinoma NCIT:C8712 MONDO:0002081 musculoskeletal system disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal disorder musculoskeletal disorder Musculoskeletal Disorder NCIT:C107377 Musculoskeletal Disorder musculoskeletal disorder NCIT:C107377 -MONDO:0002082 endocrine gland neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant endocrine tumor malignant endocrine tumor Malignant Endocrine Tumor NCIT:C3575 Malignant Endocrine Neoplasm DOID:170 malignant endocrine tumor NCIT:C3575 -MONDO:0002087 peritoneum cancer oio:hasExactSynonym oio:hasRelatedSynonym peritoneal neoplasm peritoneal neoplasm Peritoneal Neoplasm NCIT:C3322 Peritoneal Neoplasm DOID:1725 peritoneal neoplasm NCIT:C3322 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm blood vessel neoplasm Blood Vessel Neoplasm NCIT:C7387 Blood Vessel Neoplasm NCIT:C7387, DOID:175 blood vessel neoplasm NCIT:C7387 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood Vessel Tumor NCIT:C7387 Blood Vessel Neoplasm DOID:175 blood vessel tumor NCIT:C7387 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular tissue neoplasm vascular tissue neoplasm Vascular Tissue Neoplasm NCIT:C7388 Vascular Neoplasm DOID:175 vascular tissue neoplasm NCIT:C7388 -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors vascular tumors Vascular Tumors NCIT:C7388 Vascular Neoplasm DOID:175, NCIT:C7388 vascular tumors NCIT:C7388 -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm cardiovascular neoplasm Cardiovascular Neoplasm NCIT:C4784 Cardiovascular Neoplasm DOID:176 cardiovascular neoplasm NCIT:C4784 -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland neoplasm of thyroid gland Neoplasm of Thyroid Gland NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 neoplasm of thyroid gland NCIT:C3414 -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym thyroid gland neoplasm thyroid gland neoplasm Thyroid Gland Neoplasm NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 thyroid gland neoplasm NCIT:C3414 -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary gland neoplasm pituitary gland neoplasm Pituitary Gland Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785, NCIT:C3330 pituitary gland neoplasm NCIT:C3330 -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary neoplasm pituitary neoplasm Pituitary Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785 pituitary neoplasm NCIT:C3330 -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreatic exocrine tumor pancreatic exocrine tumor Pancreatic Exocrine Tumor NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 pancreatic exocrine tumor NCIT:C4445 -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of exocrine pancreas tumor of exocrine pancreas Tumor of Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 tumor of exocrine pancreas NCIT:C4445 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C9343, DOID:184 osseous tumor NCIT:C6603 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm DOID:184 bone neoplasm NCIT:C9343 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm DOID:184 bone tumor NCIT:C9343 -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C9343, DOID:184 osseous tumor NCIT:C9343 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C27241 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C3011 -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST yolk sac tumor NCIT:C3011 MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym CARD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C103186 CARD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive Tumor NCIT:C3674 Reproductive System Neoplasm NCIT:C3674, DOID:193 reproductive tumor NCIT:C3674 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute Cholecystitis NCIT:C35152 Acute Cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 acute cholecystitis NCIT:C35152 -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis acalculous cholecystitis Acalculous Cholecystitis NCIT:C35578 Acalculous Cholecystitis GARD:0000030 acalculous cholecystitis NCIT:C35578 -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube tumor of the fallopian tube Tumor of the Fallopian Tube NCIT:C3032 Fallopian Tube Neoplasm NCIT:C3032, DOID:1964 tumor of the fallopian tube NCIT:C3032 -MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental Tumors NCIT:C4858 Placental Neoplasm DOID:2021, NCIT:C4858 placental tumors NCIT:C4858 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym eye neoplasm eye neoplasm Eye Neoplasm NCIT:C3030 Eye Neoplasm DOID:2174 eye neoplasm NCIT:C3030 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of eye neoplasm of eye Neoplasm of Eye NCIT:C3030 Eye Neoplasm DOID:2174 neoplasm of eye NCIT:C3030 -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym ocular tumor ocular tumor Ocular Tumor NCIT:C3030 Eye Neoplasm NCIT:C3030, DOID:2174 ocular tumor NCIT:C3030 MONDO:0002249 thrombocytosis disease oio:hasExactSynonym oio:hasRelatedSynonym thrombocytosis thrombocytosis Thrombocytosis NCIT:C35530 Thrombocytosis DOID:2228 thrombocytosis NCIT:C35530 -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasBroadSynonym pharyngeal disorder pharyngeal disorder Pharyngeal Disorder NCIT:C26850 Pharyngeal Disorder DOID:2275 pharyngeal disorder NCIT:C26850 -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis ICD9CM:462, DOID:2275 acute pharyngitis NCIT:C34355 -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colon neoplasm colon neoplasm Colon Neoplasm NCIT:C2953 Colon Neoplasm DOID:235 colon neoplasm NCIT:C2953 -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colonic tumor colonic tumor Colonic Tumor NCIT:C2953 Colon Neoplasm DOID:235, NCIT:C2953 colonic tumor NCIT:C2953 MONDO:0002287 glandular cystitis oio:hasExactSynonym oio:hasRelatedSynonym cystitis glandularis cystitis glandularis Cystitis Glandularis NCIT:C39860 Cystitis Glandularis DOID:2392 cystitis glandularis NCIT:C39860 -MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of clitoris carcinoma of clitoris Carcinoma of Clitoris NCIT:C9362 Clitoral Carcinoma DOID:2401, NCIT:C9362 carcinoma of clitoris NCIT:C9362 -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease DOID:2477 hereditary motor and sensory neuropathy NCIT:C75467 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym trachea neoplasm trachea neoplasm Trachea Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 trachea neoplasm NCIT:C3419 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 tracheal neoplasm NCIT:C3419 -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal tumor tracheal tumor Tracheal Tumor NCIT:C3419 Tracheal Neoplasm DOID:248, NCIT:C3419 tracheal tumor NCIT:C3419 -MONDO:0002328 intracranial hemangioma oio:hasExactSynonym oio:hasBroadSynonym brain hemangioma brain hemangioma Brain Hemangioma NCIT:C7739 Brain Hemangioma MONDO:patterns/location brain hemangioma NCIT:C7739 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hematologic cancer hematologic cancer Hematologic Cancer NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematologic cancer NCIT:C27134 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematologic neoplasm hematologic neoplasm Hematologic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematologic neoplasm NCIT:C27134 -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematopoietic neoplasm hematopoietic neoplasm Hematopoietic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 hematopoietic neoplasm NCIT:C27134 -MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm larynx neoplasm Larynx Neoplasm NCIT:C3156 Laryngeal Neoplasm DOID:2598 larynx neoplasm NCIT:C3156 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 cancer of glottis NCIT:C4923 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the glottis cancer of the glottis Cancer of the Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 cancer of the glottis NCIT:C4923 MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottic throat cancer glottic throat cancer Glottic Throat Cancer NCIT:C4923 Glottis Carcinoma NCIT:C4923 glottic throat cancer NCIT:C4923 @@ -5873,154 +5017,69 @@ MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the larynx cancer of the larynx Cancer of the Larynx NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 cancer of the larynx NCIT:C4855 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal cancer laryngeal cancer Laryngeal Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 laryngeal cancer NCIT:C4855 MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal throat cancer laryngeal throat cancer Laryngeal Throat Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 laryngeal throat cancer NCIT:C4855 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary Serous Carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma NCIT:C6882 -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 micropapillary serous carcinoma NCIT:C6882 MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary Serous Carcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma DOID:2632, NCIT:C8377 papillary serous carcinoma NCIT:C8377 -MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym oio:hasBroadSynonym Brenner tumor Brenner tumor Brenner Tumor NCIT:C39954 Brenner Tumor NCIT:C3872 Brenner tumor NCIT:C39954 -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign synovioma benign synovioma Benign Synovioma NCIT:C3829 Benign Synovial Neoplasm DOID:2701 benign synovioma NCIT:C3829 -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of synovium benign tumor of synovium Benign Tumor of Synovium NCIT:C3829 Benign Synovial Neoplasm DOID:2701, NCIT:C3829 benign tumor of synovium NCIT:C3829 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the liver angioma of the liver Angioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 angioma of the liver NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the liver hemangioma of the liver Hemangioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 hemangioma of the liver NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hepatic hemangioma hepatic hemangioma Hepatic Hemangioma NCIT:C3869 Liver Hemangioma NCIT:C3869 hepatic hemangioma NCIT:C3869 MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym liver angioma liver angioma Liver Angioma NCIT:C3869 Liver Hemangioma NCIT:C3869 liver angioma NCIT:C3869 MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ethmoid sinus adenocarcinoma of ethmoid sinus Adenocarcinoma of Ethmoid Sinus NCIT:C6237 Ethmoid Sinus Adenocarcinoma DOID:2766 adenocarcinoma of ethmoid sinus NCIT:C6237 -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF NCIT:C35716 Idiopathic Pulmonary Fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 IPF NCIT:C35716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor cranial nerve III tumor Cranial Nerve III Tumor NCIT:C6994 Oculomotor Nerve Neoplasm DOID:2817 cranial nerve III tumor NCIT:C6994 MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 NCIT:C84793 Jervell and Lange Nielsen Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 JLNS1 NCIT:C84793 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C7558 endometrial cancer NCIT:C7558 -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes Neoplasm of the Prostate NCIT:C7574 Prostate Phyllodes Tumor NCIT:C7574, DOID:2885 phyllodes neoplasm of the prostate NCIT:C7574 -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor prostate phyllodes tumor Prostate Phyllodes Tumor NCIT:C7574 Prostate Phyllodes Tumor DOID:2885 prostate phyllodes tumor NCIT:C7574 MONDO:0002467 inner ear disorder oio:hasExactSynonym oio:hasNarrowSynonym vestibular disorder vestibular disorder Vestibular Disorder NCIT:C27166 Inner Ear Disorder NCIT:C27166 vestibular disorder NCIT:C27166 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes Malignant Cystosarcoma Phyllodes NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 malignant cystosarcoma phyllodes NCIT:C4275 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym malignant phyllodes neoplasm malignant phyllodes neoplasm Malignant Phyllodes Neoplasm NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 malignant phyllodes neoplasm NCIT:C4275 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast neoplasm phyllodes breast neoplasm Phyllodes Breast Neoplasm NCIT:C7575 Breast Phyllodes Tumor DOID:3016 phyllodes breast neoplasm NCIT:C7575 -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumor phyllodes breast tumor Phyllodes Breast Tumor NCIT:C7575 Breast Phyllodes Tumor DOID:3016 phyllodes breast tumor NCIT:C7575 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C6958 MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C7049 -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C7049 astrocytic tumor NCIT:C9022 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C6958 -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C7049 MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C9022 astrocytic tumor NCIT:C9022 -MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis chronic gingivitis Chronic Gingivitis NCIT:C34474 Chronic Gingivitis ICD9CM:523.1, DOID:3087 chronic gingivitis NCIT:C34474 -MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor GI tumor GI Tumor NCIT:C3052 Digestive System Neoplasm NCIT:C3052, DOID:3119 GI tumor NCIT:C3052 -MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym fatty acid metabolism disorder fatty acid metabolism disorder Fatty Acid Metabolism Disorder NCIT:C117115 Fatty Acid Metabolism Disorder DOID:3146 fatty acid metabolism disorder NCIT:C117115 MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym lipid metabolism disorder lipid metabolism disorder Lipid Metabolism Disorder NCIT:C97092 Lipid Metabolism Disorder DOID:3146 lipid metabolism disorder NCIT:C97092 -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 glandular papilloma NCIT:C6880 -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 glandular papilloma NCIT:C6880 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C3288 -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C4014 MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4045 oligodendroglioma NCIT:C4045 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C3288 MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C4014 -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4014 oligodendroglioma NCIT:C4045 MONDO:0002561 lysosomal storage disease oio:hasExactSynonym oio:hasRelatedSynonym phospholipidosis phospholipidosis PHOSPHOLIPIDOSIS NCIT:C61250 Lysosomal Storage Disease NCIT:C61250 phospholipidosis NCIT:C61250 MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia aspiration pneumonia Aspiration Pneumonia NCIT:C34932 Aspiration Pneumonitis NCIT:C34932 aspiration pneumonia NCIT:C34932 MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change NCIT:C6940 Breast Fibrocystic Change, Proliferative Type DOID:3274, NCIT:C6940 proliferative fibrocystic change NCIT:C6940 -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic neoplasm thymic neoplasm Thymic Neoplasm NCIT:C3412 Thymus Neoplasm DOID:3277 thymic neoplasm NCIT:C3412 -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor thymic tumor Thymic Tumor NCIT:C3412 Thymus Neoplasm DOID:3277, NCIT:C3412 thymic tumor NCIT:C3412 MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma NCIT:C6585 osteosarcoma NCIT:C6585 -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma NCIT:C6585 osteosarcoma NCIT:C9145 -MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym oio:hasRelatedSynonym SCOS NCIT:C168988 Sertoli Cell-Only Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SCOS SCOS NCIT:C168988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002637 histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytic and dendritic cell neoplasms histiocytic and dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm ONCOTREE:HDCN histiocytic and dendritic cell neoplasms NCIT:C9294 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 cancer of scrotum NCIT:C6389 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the scrotum cancer of the scrotum Cancer of the Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 cancer of the scrotum NCIT:C6389 MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym scrotal cancer scrotal cancer Scrotal Cancer NCIT:C6389 Scrotal Carcinoma NCIT:C6389 scrotal cancer NCIT:C6389 -MONDO:0002658 iris cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the iris tumor of the iris Tumor of the Iris NCIT:C3142 Iris Neoplasm NCIT:C3142, DOID:3478 tumor of the iris NCIT:C3142 -MONDO:0002659 uveal cancer oio:hasExactSynonym oio:hasBroadSynonym uveal tumor uveal tumor Uveal Tumor NCIT:C3436 Uveal Neoplasm DOID:3479, NCIT:C3436 uveal tumor NCIT:C3436 MONDO:0002670 ampulla of vater adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ampulla of vater adenocarcinoma of ampulla of vater Adenocarcinoma of Ampulla of Vater NCIT:C6650 Ampulla of Vater Adenocarcinoma DOID:3502 adenocarcinoma of ampulla of vater NCIT:C6650 MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym signet ring cell carcinoma of breast signet ring cell carcinoma of breast Signet Ring Cell Carcinoma of Breast NCIT:C5175 Breast Signet Ring Cell Carcinoma DOID:3503 signet ring cell carcinoma of breast NCIT:C5175 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C3043 MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C7809 -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C7809 fibrosarcoma NCIT:C8088 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C3043 -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C7809 MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C8088 fibrosarcoma NCIT:C8088 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C3473 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 tumor of choroid plexus NCIT:C3473 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C42080 -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm DOID:3540 choroid plexus neoplasm NCIT:C8568 -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C3473 -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C42080 MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C8568 choroid plexus neoplasm NCIT:C8568 -MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm childhood choroid plexus neoplasm Childhood Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3545 childhood choroid plexus neoplasm NCIT:C42080 -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma gonadoblastoma Gonadoblastoma NCIT:C3754 Gonadoblastoma OMIM:424500 gonadoblastoma NCIT:C3754 -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm CNS neoplasm CNS Neoplasm NCIT:C9293 Central Nervous System Neoplasm DOID:3620 CNS neoplasm NCIT:C9293 -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor central nervous system tumor Central Nervous System Tumor NCIT:C9293 Central Nervous System Neoplasm DOID:3620 central nervous system tumor NCIT:C9293 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of uterus neoplasm of uterus Neoplasm of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 neoplasm of uterus NCIT:C3435 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of uterus tumor of uterus Tumor of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 tumor of uterus NCIT:C3435 -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym uterine tumor uterine tumor Uterine Tumor NCIT:C3435 Uterine Neoplasm DOID:363, NCIT:C3435 uterine tumor NCIT:C3435 -MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm NCIT:C6563 kidney neoplasm NCIT:C3150 MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm NCIT:C6563 kidney neoplasm NCIT:C6563 -MONDO:0002731 cerebral hemisphere cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of cerebrum tumor of cerebrum Tumor of Cerebrum NCIT:C4874 Cerebral Neoplasm DOID:368, NCIT:C4874 tumor of cerebrum NCIT:C4874 -MONDO:0002732 lung benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the lung tumor of the lung Tumor of the Lung NCIT:C3200 Lung Neoplasm NCIT:C3200, DOID:3683 tumor of the lung NCIT:C3200 MONDO:0002747 endometrial mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym uterine corpus mucinous adenocarcinoma uterine corpus mucinous adenocarcinoma Uterine Corpus Mucinous Adenocarcinoma NCIT:C40144 Endometrial Mucinous Adenocarcinoma DOID:3707, NCIT:C40144 uterine corpus mucinous adenocarcinoma NCIT:C40144 MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym SPB NCIT:C7812 Solitary Plasmacytoma of Bone http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SPB SPB NCIT:C7812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002782 cranial nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve palsies cranial nerve palsies Cranial nerve palsies NCIT:C26941 Cranial Nerve Palsy NCIT:C26941 cranial nerve palsies NCIT:C26941 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C3222 -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C3997 MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C4011 medulloblastoma NCIT:C4011 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C3222 MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C3997 -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C3997 medulloblastoma NCIT:C4011 MONDO:0002803 intestinal pseudo-obstruction oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction intestinal pseudoobstruction Intestinal Pseudoobstruction NCIT:C34733 Intestinal Pseudo-Obstruction GARD:0006789 intestinal pseudoobstruction NCIT:C34733 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 sweat gland adenoma NCIT:C7560 -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 sweat gland adenoma NCIT:C7560 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym acrospiroma acrospiroma Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 acrospiroma NCIT:C7563 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 eccrine acrospiroma NCIT:C7563 MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 eccrine acrospiroma NCIT:C7563 -MONDO:0002808 pancreatic serous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym PSC NCIT:C4828 Primary Sclerosing Cholangitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PSC PSC NCIT:C4828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm adrenal neoplasm Adrenal Neoplasm NCIT:C2859 Adrenal Gland Neoplasm DOID:3953 adrenal neoplasm NCIT:C2859 -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland Tumor of the Adrenal Gland NCIT:C2859 Adrenal Gland Neoplasm NCIT:C2859, DOID:3953 tumor of the adrenal gland NCIT:C2859 -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma Merkel cell carcinoma Merkel Cell Carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 Merkel cell carcinoma NCIT:C9231 -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 Merkel cell carcinoma NCIT:C9231 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Ringertz carcinoma Ringertz carcinoma Ringertz Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Ringertz carcinoma NCIT:C54287 -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma Schneiderian carcinoma Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal Schneiderian carcinoma Sinonasal Schneiderian carcinoma Sinonasal Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal Schneiderian carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal cylindrical cell carcinoma Sinonasal cylindrical cell carcinoma Sinonasal Cylindrical Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal cylindrical cell carcinoma NCIT:C54287 MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal transitional cell carcinoma Sinonasal transitional cell carcinoma Sinonasal Transitional Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 Sinonasal transitional cell carcinoma NCIT:C54287 -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym sinonasal squamous cell carcinoma sinonasal squamous cell carcinoma Sinonasal Squamous Cell Carcinoma NCIT:C68611 Sinonasal Squamous Cell Carcinoma ONCOTREE:SNSC sinonasal squamous cell carcinoma NCIT:C68611 MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma oio:hasExactSynonym oio:hasBroadSynonym biliary cystadenocarcinoma biliary cystadenocarcinoma Biliary Cystadenocarcinoma NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma DOID:4075, NCIT:C4130 biliary cystadenocarcinoma NCIT:C4130 -MONDO:0002889 orbital cancer oio:hasExactSynonym oio:hasBroadSynonym orbital tumor orbital tumor Orbital Tumor NCIT:C3290 Orbit Neoplasm DOID:4143, NCIT:C3290 orbital tumor NCIT:C3290 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem neoplasm malignant brain stem neoplasm Malignant Brain Stem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brain stem neoplasm NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem tumor malignant brain stem tumor Malignant Brain Stem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brain stem tumor NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem neoplasm malignant brainstem neoplasm Malignant Brainstem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm MONDO:patterns/cancer, NCIT:C3570 malignant brainstem neoplasm NCIT:C3570 MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem tumor malignant brainstem tumor Malignant Brainstem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 malignant brainstem tumor NCIT:C3570 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of brain stem neoplasm of brain stem Neoplasm of Brain Stem NCIT:C4869 Brain Stem Neoplasm DOID:4203 neoplasm of brain stem NCIT:C4869 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm DOID:4203 tumor of the brainstem NCIT:C4869 -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of adult brain stem neoplasm of adult brain stem Neoplasm of Adult Brain Stem NCIT:C5967 Adult Brain Stem Neoplasm DOID:4203 neoplasm of adult brain stem NCIT:C5967 -MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum Malignant Tumor of Cerebellum NCIT:C3569 Malignant Cerebellar Neoplasm DOID:4205, NCIT:C3569 malignant tumor of cerebellum NCIT:C3569 MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy centronuclear myopathy Centronuclear Myopathy NCIT:C84648 Congenital Structural Myopathy NCIT:C84648 centronuclear myopathy NCIT:C84648 MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of the scrotum basal cell carcinoma of the scrotum Basal Cell Carcinoma of the Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma DOID:4278 basal cell carcinoma of the scrotum NCIT:C6386 MONDO:0002943 external ear basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of external ear basal cell carcinoma of external ear Basal Cell Carcinoma of External Ear NCIT:C6082 External Ear Basal Cell Carcinoma DOID:4287 basal cell carcinoma of external ear NCIT:C6082 MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial basal cell carcinoma fibroepithelial basal cell carcinoma Fibroepithelial Basal Cell Carcinoma NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma DOID:4291 fibroepithelial basal cell carcinoma NCIT:C4109 -MONDO:0002969 ciliary body cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ciliary body tumor of the ciliary body Tumor of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm NCIT:C4364, DOID:4352 tumor of the ciliary body NCIT:C4364 -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym cervical neoplasm cervical neoplasm Cervical Neoplasm NCIT:C2940 Cervical Neoplasm DOID:4362 cervical neoplasm NCIT:C2940 -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the cervix uteri tumor of the cervix uteri Tumor of the Cervix Uteri NCIT:C2940 Cervical Neoplasm DOID:4362, NCIT:C2940 tumor of the cervix uteri NCIT:C2940 MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal NET small intestinal NET Small Intestinal NET NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 small intestinal NET NCIT:C96061 MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal neuroendocrine tumor small intestinal neuroendocrine tumor Small Intestinal Neuroendocrine Tumor NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 small intestinal neuroendocrine tumor NCIT:C96061 MONDO:0002998 skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of skull base meningioma of skull base Meningioma of Skull Base NCIT:C5272 Skull Base Meningioma NCIT:C5272 meningioma of skull base NCIT:C5272 MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma NCIT:C6568 renal cell cancer NCIT:C6568 -MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma NCIT:C6568 renal cell cancer NCIT:C9385 MONDO:0003010 multilocular clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym multilocular cystic renal neoplasm of low malignant potential multilocular cystic renal neoplasm of low malignant potential Multilocular Cystic Renal Neoplasm of Low Malignant Potential NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential Orphanet:319287 multilocular cystic renal neoplasm of low malignant potential NCIT:C4524 MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder potassium deficiency disorder Potassium Deficiency Disorder NCIT:C34939 Potassium Deficiency Disorder DOID:4500 potassium deficiency disorder NCIT:C34939 -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C3088 Angiosarcoma NCIT:C9174 angiosarcoma NCIT:C3088 MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma NCIT:C9174 angiosarcoma NCIT:C9174 MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C27374 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C3737 -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 mesenchymal chondrosarcoma NCIT:C3737 MONDO:0003053 choroid plexus meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of choroid plexus meningioma of choroid plexus Meningioma of Choroid Plexus NCIT:C4719 Choroid Plexus Meningioma NCIT:C4719 meningioma of choroid plexus NCIT:C4719 -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma NCIT:C8264 meningioma NCIT:C3230 MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma NCIT:C8264 meningioma NCIT:C8264 -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym muscle neoplasm muscle neoplasm Muscle Neoplasm NCIT:C4063 Myomatous Neoplasm DOID:461 muscle neoplasm NCIT:C4063 -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym myomatous tumor myomatous tumor Myomatous Tumor NCIT:C4063 Myomatous Neoplasm NCIT:C4063, DOID:461 myomatous tumor NCIT:C4063 MONDO:0003070 axillary lymphadenitis oio:hasExactSynonym oio:hasRelatedSynonym axillary adenitis axillary adenitis Axillary Adenitis NCIT:C27333 Axillary Lymphadenitis NCIT:C27333 axillary adenitis NCIT:C27333 -MONDO:0003072 retinal cancer oio:hasExactSynonym oio:hasBroadSynonym retinal tumor retinal tumor Retinal Tumor NCIT:C4800 Retinal Neoplasm DOID:4645, NCIT:C4800 retinal tumor NCIT:C4800 -MONDO:0003104 epicardium cancer oio:hasExactSynonym oio:hasBroadSynonym epicardial tumor epicardial tumor Epicardial Tumor NCIT:C5347 Epicardial Neoplasm DOID:4699, NCIT:C5347 epicardial tumor NCIT:C5347 -MONDO:0003113 extragonadal germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym tumor of extragonadal germ cell tumor of extragonadal germ cell Tumor of Extragonadal Germ Cell NCIT:C3918 Extragonadal Germ Cell Tumor DOID:4717 tumor of extragonadal germ cell NCIT:C3918 -MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor physiological malfunction arising from mental factor Physiological Malfunction Arising from Mental Factor NCIT:C35186 Physiological Malfunction Arising from Mental Factor DOID:4737 physiological malfunction arising from mental factor NCIT:C35186 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT mixed germ cell tumor NCIT:C4290 -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT mixed germ cell tumor NCIT:C4290 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of testis mixed germ cell neoplasm of testis Mixed Germ Cell Neoplasm of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 mixed germ cell neoplasm of testis NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of the testis mixed germ cell neoplasm of the testis Mixed Germ Cell Neoplasm of the Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 mixed germ cell neoplasm of the testis NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis mixed germ cell tumor of testis Mixed Germ Cell Tumor of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor DOID:4743, NCIT:C6347 mixed germ cell tumor of testis NCIT:C6347 @@ -6029,12 +5088,9 @@ MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelat MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell neoplasm testicular mixed germ cell neoplasm Testicular Mixed Germ Cell Neoplasm NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 testicular mixed germ cell neoplasm NCIT:C6347 MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell tumor testicular mixed germ cell tumor Testicular Mixed Germ Cell Tumor NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 testicular mixed germ cell tumor NCIT:C6347 MONDO:0003124 testicular Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Leydig cell tumor of the testis Leydig cell tumor of the testis Leydig Cell Tumor of the Testis NCIT:C6356 Testicular Leydig Cell Tumor NCIT:C6356 Leydig cell tumor of the testis NCIT:C6356 -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal Neoplasm NCIT:C3794 Sex Cord-Stromal Tumor DOID:4757 sex cord-stromal neoplasm NCIT:C3794 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of testis sex cord-stromal neoplasm of testis Sex Cord-Stromal Neoplasm of Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal neoplasm of testis NCIT:C6358 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of the testis sex cord-stromal neoplasm of the testis Sex Cord-Stromal Neoplasm of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal neoplasm of the testis NCIT:C6358 MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal tumor of the testis sex cord-stromal tumor of the testis Sex Cord-Stromal Tumor of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 sex cord-stromal tumor of the testis NCIT:C6358 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C8501 -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C9042 MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9091 brain stem glioma NCIT:C9091 MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma NCIT:C9347 cancer of trachea NCIT:C9347 MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma NCIT:C9347 trachea cancer NCIT:C9347 @@ -6043,37 +5099,19 @@ MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendi MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer anal cancer Anal Cancer NCIT:C9291 Anal Carcinoma NCIT:C9291 anal cancer NCIT:C9291 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 cancer of anus NCIT:C9291 MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the anus cancer of the anus Cancer of the Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 cancer of the anus NCIT:C9291 -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SBC NCIT:C2904 Simple Bone Cyst http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009408 SBC NCIT:C2904 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336, DOID:4931 cancer of nasal cavity NCIT:C9336 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasal cavity cancer of the nasal cavity Cancer of the Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 cancer of the nasal cavity NCIT:C9336 MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 nasal cavity cancer NCIT:C9336 MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AIS AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer gallbladder cancer Gallbladder Cancer NCIT:C3844 Gallbladder Carcinoma NCIT:C3844 gallbladder cancer NCIT:C3844 -MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm NCIT:C8273 pineal parenchymal cell tumor NCIT:C6965 MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm NCIT:C8273 pineal parenchymal cell tumor NCIT:C8273 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region Neoplasm of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 neoplasm of the pineal region NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma NCIT:C3328 Pineal Region Neoplasm DOID:5032 pinealoma NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region tumor of the pineal region Tumor of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 tumor of the pineal region NCIT:C3328 -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm DOID:5032 pineocytic tumor NCIT:C6965 MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym oio:hasRelatedSynonym cerebellar papillary meningioma cerebellar papillary meningioma Cerebellar Papillary Meningioma NCIT:C5270 Cerebellar Papillary Meningioma NCIT:C5270 cerebellar papillary meningioma NCIT:C5270 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C3904 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C3904 -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma DOID:5058, NCIT:C3904 papillary meningioma NCIT:C8293 -MONDO:0003273 sternum cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of sternum neoplasm of sternum Neoplasm of Sternum NCIT:C6730 Sternal Neoplasm DOID:5090 neoplasm of sternum NCIT:C6730 -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thoracic tumor thoracic tumor Thoracic Tumor NCIT:C3406 Thoracic Neoplasm DOID:5093, NCIT:C3406 thoracic tumor NCIT:C3406 -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax tumor of thorax Tumor of Thorax NCIT:C3406 Thoracic Neoplasm DOID:5093 tumor of thorax NCIT:C3406 -MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear tumor of the middle ear Tumor of the Middle Ear NCIT:C4412 Middle Ear Neoplasm NCIT:C4412, DOID:5099 tumor of the middle ear NCIT:C4412 MONDO:0003307 multiple mucosal neuroma oio:hasExactSynonym oio:hasRelatedSynonym multiple mucosal neuromas multiple mucosal neuromas Multiple Mucosal Neuromas NCIT:C6559 Multiple Mucosal Neuromas NCIT:C6559 multiple mucosal neuromas NCIT:C6559 -MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma benign pleural mesothelioma Benign Pleural Mesothelioma NCIT:C4499 Pleural Adenomatoid Tumor DOID:5157 benign pleural mesothelioma NCIT:C4499 -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant scrotal neoplasm malignant scrotal neoplasm Malignant Scrotal Neoplasm NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 malignant scrotal neoplasm NCIT:C3560 -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 malignant tumor of scrotum NCIT:C3560 MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma GARD:0010175 perihilar cholangiocarcinoma NCIT:C36077 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of bladder clear cell adenocarcinoma of bladder Clear Cell Adenocarcinoma of Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma DOID:5306, NCIT:C6179 clear cell adenocarcinoma of bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the bladder clear cell adenocarcinoma of the bladder Clear Cell Adenocarcinoma of the Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of the bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the urinary bladder clear cell adenocarcinoma of the urinary bladder Clear Cell Adenocarcinoma of the Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of the urinary bladder NCIT:C6179 MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of urinary bladder clear cell adenocarcinoma of urinary bladder Clear Cell Adenocarcinoma of Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 clear cell adenocarcinoma of urinary bladder NCIT:C6179 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-rich carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma NCIT:C4153 -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-Rich Carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 glycogen-rich carcinoma NCIT:C4153 MONDO:0003393 thymus gland disorder oio:hasExactSynonym oio:hasRelatedSynonym thymus disorder thymus disorder Thymus Disorder NCIT:C26962 Thymus Disorder thymus disorder NCIT:C26962 MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of testis granulosa cell neoplasm of testis Granulosa Cell Neoplasm of Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 granulosa cell neoplasm of testis NCIT:C6357 MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of the testis granulosa cell neoplasm of the testis Granulosa Cell Neoplasm of the Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 granulosa cell neoplasm of the testis NCIT:C6357 @@ -6097,12 +5135,6 @@ MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym childhood central nervous system yolk Sac tumor childhood central nervous system yolk Sac tumor Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 childhood central nervous system yolk Sac tumor NCIT:C6209 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac neoplasm pediatric central nervous system yolk Sac neoplasm Pediatric Central Nervous System Yolk Sac Neoplasm NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 pediatric central nervous system yolk Sac neoplasm NCIT:C6209 MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor Pediatric Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C6209 pediatric central nervous system yolk Sac tumor NCIT:C6209 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor NCIT:C6209 central nervous system yolk Sac tumor NCIT:C7011 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk sac tumor central nervous system yolk sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor MONDO:patterns/location central nervous system yolk sac tumor NCIT:C7011 -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C7011 yolk Sac tumor of the CNS NCIT:C7011 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C27241 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C3011 -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST yolk sac tumor NCIT:C3011 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of testis endodermal sinus neoplasm of testis Endodermal Sinus Neoplasm of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus neoplasm of testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of the testis endodermal sinus neoplasm of the testis Endodermal Sinus Neoplasm of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus neoplasm of the testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor of testis endodermal sinus tumor of testis Endodermal Sinus Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 endodermal sinus tumor of testis NCIT:C8000 @@ -6114,124 +5146,59 @@ MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynony MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of testis yolk Sac tumor of testis Yolk Sac Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 yolk Sac tumor of testis NCIT:C8000 MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of the testis yolk Sac tumor of the testis Yolk Sac Tumor of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 yolk Sac tumor of the testis NCIT:C8000 MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C27241 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C3011 -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 yolk Sac tumor NCIT:C3011 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C5461 -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C6205 MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6285 central nervous system germ cell tumor NCIT:C6285 MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix neoplasm hair matrix neoplasm Hair Matrix Neoplasm NCIT:C7367 Hair Follicle Neoplasm DOID:5375, NCIT:C7367 hair matrix neoplasm NCIT:C7367 MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix tumor hair matrix tumor Hair Matrix Tumor NCIT:C7367 Hair Follicle Neoplasm NCIT:C7367, DOID:5375 hair matrix tumor NCIT:C7367 -MONDO:0003443 papillary urothelial neoplasm oio:hasExactSynonym oio:hasRelatedSynonym inverted papilloma of urinary tract inverted papilloma of urinary tract Inverted Papilloma of Urinary Tract NCIT:C6192 Inverted Urothelial Papilloma NCIT:C6192, DOID:5433 inverted papilloma of urinary tract NCIT:C6192 MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym oio:hasRelatedSynonym adenoma of intrahepatic bile duct adenoma of intrahepatic bile duct Adenoma of Intrahepatic Bile Duct NCIT:C7126 Intrahepatic Bile Duct Adenoma DOID:5437 adenoma of intrahepatic bile duct NCIT:C7126 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign eccrine spiradenoma benign eccrine spiradenoma Benign Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170, DOID:5444 benign eccrine spiradenoma NCIT:C4170 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 eccrine spiradenoma NCIT:C4170 MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 eccrine spiradenoma NCIT:C4170 -MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival Tumor NCIT:C2961 Conjunctival Neoplasm DOID:5467, NCIT:C2961 conjunctival tumor NCIT:C2961 MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym oio:hasRelatedSynonym adenofibroma of uterine corpus adenofibroma of uterine corpus Adenofibroma of Uterine Corpus NCIT:C6337 Uterine Corpus Adenofibroma DOID:5475 adenofibroma of uterine corpus NCIT:C6337 -MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma NCIT:C8578 ependymoma NCIT:C3017 MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma NCIT:C8578 ependymoma NCIT:C8578 MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma dysgerminoma Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma ONCOTREE:ODYS dysgerminoma NCIT:C8106 -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma NCIT:C4121 -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 basaloid carcinoma NCIT:C4121 -MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:5524 acantholytic squamous cell carcinoma NCIT:C4460 -MONDO:0003499 sarcomatoid squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma NCIT:C27084, DOID:5536 spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 MONDO:0003501 external ear squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of external ear squamous cell carcinoma of external ear Squamous Cell Carcinoma of External Ear NCIT:C6083 External Ear Squamous Cell Carcinoma DOID:5538 squamous cell carcinoma of external ear NCIT:C6083 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal NET anal canal NET Anal Canal NET NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm anal canal NET NCIT:C96540 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal neuroendocrine tumor anal canal neuroendocrine tumor Anal Canal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm anal canal neuroendocrine tumor NCIT:C96540 -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal neuroendocrine tumor anal neuroendocrine tumor Anal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor DOID:5545 anal neuroendocrine tumor NCIT:C96540 -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:TCCA choriocarcinoma NCIT:C2948 -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C7251 Malignant Testicular Neoplasm NCIT:C9063 testicular cancer NCIT:C7251 MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor NCIT:C9063 testicular cancer NCIT:C9063 -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma NCIT:C9013 teratoma NCIT:C3403 MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma NCIT:C9013 teratoma NCIT:C9013 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma gastric gastrinoma Gastric Gastrinoma NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor DOID:5579 gastric gastrinoma NCIT:C27444 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital Papillary Adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 digital papillary adenocarcinoma NCIT:C27534 -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 digital papillary adenocarcinoma NCIT:C27534 -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma breast solid papillary carcinoma Breast Solid Papillary Carcinoma NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 breast solid papillary carcinoma NCIT:C6870 -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast solid papillary carcinoma of the breast Solid Papillary Carcinoma of the Breast NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 solid papillary carcinoma of the breast NCIT:C6870 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3167 -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C3168 MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C4967 acute lymphoblastic leukemia (ALL) NCIT:C4967 -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm spinal cord neoplasm Spinal Cord Neoplasm NCIT:C3381 Spinal Cord Neoplasm DOID:5612 spinal cord neoplasm NCIT:C3381 -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm DOID:5612, NCIT:C3381 tumor of the spinal cord NCIT:C3381 MONDO:0003556 endometrial adenosquamous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial adenosquamous cancer endometrial adenosquamous cancer Endometrial Adenosquamous Cancer NCIT:C114656 Endometrial Adenosquamous Carcinoma GARD:0013107 endometrial adenosquamous cancer NCIT:C114656 -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:OEC embryonal carcinoma NCIT:C3752 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C7811 liposarcoma NCIT:C3194 MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C7811 liposarcoma NCIT:C7811 -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C7811 liposarcoma NCIT:C8091 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C8091 liposarcoma NCIT:C3194 -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C8091 liposarcoma NCIT:C7811 MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C8091 liposarcoma NCIT:C8091 -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm adrenal medulla neoplasm Adrenal Medulla Neoplasm NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 adrenal medulla neoplasm NCIT:C4856 -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor adrenal medulla tumor Adrenal Medulla Tumor NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 adrenal medulla tumor NCIT:C4856 -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy peripheral neuropathy Peripheral Neuropathy NCIT:C119734 Peripheral Neuropathy MESH:D010523, DOID:574 peripheral neuropathy NCIT:C119734 MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral nerve disease peripheral nerve disease Peripheral Nerve Disease NCIT:C27580 Peripheral Nervous System Disorder MTH:516, DOID:574, NCIT:C27580, MESH:D010523 peripheral nerve disease NCIT:C27580 -MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rectal neuroendocrine tumor rectal neuroendocrine tumor Rectal Neuroendocrine Tumor NCIT:C135213 Rectal Neuroendocrine Tumor ORCID:0000-0002-0587-4693, Orphanet:100081 rectal neuroendocrine tumor NCIT:C135213 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C5165 lymphoma NCIT:C3208 MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C5165 lymphoma NCIT:C5165 -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C5165 lymphoma NCIT:C7587 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C7587 lymphoma NCIT:C3208 -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C7587 lymphoma NCIT:C5165 MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C7587 lymphoma NCIT:C7587 -MONDO:0003666 fallopian tube endometrioid adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube endometrioid neoplasm fallopian tube endometrioid neoplasm Fallopian Tube Endometrioid Neoplasm NCIT:C40111 Fallopian Tube Endometrioid Tumor DOID:5831 fallopian tube endometrioid neoplasm NCIT:C40111 -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C4049 Anaplastic Ependymoma NCIT:C8269 anaplastic ependymoma NCIT:C4049 MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma NCIT:C8269 anaplastic ependymoma NCIT:C8269 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C4268 -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C7947 MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C8097 malignant mesenchymoma NCIT:C8097 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C4268 MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C7947 -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C7947 malignant mesenchymoma NCIT:C8097 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT mixed germ cell tumor NCIT:C4290 -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT mixed germ cell tumor NCIT:C4290 MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA urachal carcinoma NCIT:C39842 MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal Carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA urachal carcinoma NCIT:C39842 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT mature teratoma NCIT:C9015 -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT mature teratoma NCIT:C9015 -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:BIMT immature teratoma NCIT:C4286 -MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer Esophageal Ulcer NCIT:C26950 Esophageal Ulcer DOID:6050, NCIT:C26950 esophageal ulcer NCIT:C26950 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C5461 MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C6205 -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6205 central nervous system germ cell tumor NCIT:C6285 -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C114777 -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C3708 MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C7928 germ cell tumor NCIT:C7928 MONDO:0003752 frontal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of frontal sinus Schneiderian papilloma of frontal sinus Schneiderian Papilloma of Frontal Sinus NCIT:C6837 Frontal Sinus Papilloma NCIT:C6837 Schneiderian papilloma of frontal sinus NCIT:C6837 -MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm malignant ovarian mucinous neoplasm Malignant Ovarian Mucinous Neoplasm NCIT:C40033 Malignant Ovarian Mucinous Tumor DOID:6067 malignant ovarian mucinous neoplasm NCIT:C40033 MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor NCIT:C6552 testicular germ cell tumor NCIT:C6552 -MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C8591 Testicular Germ Cell Tumor NCIT:C6552 testicular germ cell tumor NCIT:C8591 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor childhood ovarian endodermal sinus tumor Childhood Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 childhood ovarian endodermal sinus tumor NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian yolk Sac neoplasm childhood ovarian yolk Sac neoplasm Childhood Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 childhood ovarian yolk Sac neoplasm NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus neoplasm pediatric ovarian endodermal sinus neoplasm Pediatric Ovarian Endodermal Sinus Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian endodermal sinus neoplasm NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus tumor pediatric ovarian endodermal sinus tumor Pediatric Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian endodermal sinus tumor NCIT:C6551 MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian yolk Sac neoplasm pediatric ovarian yolk Sac neoplasm Pediatric Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 pediatric ovarian yolk Sac neoplasm NCIT:C6551 -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor NCIT:C8588 ovarian germ cell tumor NCIT:C3873 MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor NCIT:C8588 ovarian germ cell tumor NCIT:C8588 MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym oio:hasRelatedSynonym melanoma of leptomeninges melanoma of leptomeninges Melanoma of Leptomeninges NCIT:C5317 Meningeal Melanoma NCIT:C5317 melanoma of leptomeninges NCIT:C5317 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of leptomeninges malignant neoplasm of leptomeninges Malignant Neoplasm of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant neoplasm of leptomeninges NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the leptomeninges malignant neoplasm of the leptomeninges Malignant Neoplasm of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant neoplasm of the leptomeninges NCIT:C8506 MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the leptomeninges malignant tumor of the leptomeninges Malignant Tumor of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 malignant tumor of the leptomeninges NCIT:C8506 -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic Bronchitis NCIT:C26722 Chronic Bronchitis DOID:6132 chronic bronchitis NCIT:C26722 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell neoplasm childhood testicular mixed germ cell neoplasm Childhood Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 childhood testicular mixed germ cell neoplasm NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell tumor childhood testicular mixed germ cell tumor Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 childhood testicular mixed germ cell tumor NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell neoplasm pediatric testicular mixed germ cell neoplasm Pediatric Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 pediatric testicular mixed germ cell neoplasm NCIT:C6542 MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell tumor pediatric testicular mixed germ cell tumor Pediatric Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542, DOID:6161 pediatric testicular mixed germ cell tumor NCIT:C6542 -MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal Tumor NCIT:C4361 Corneal Neoplasm DOID:6199, NCIT:C4361 corneal tumor NCIT:C4361 MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary mature teratoma of the ovary Mature Teratoma of the Ovary NCIT:C8112 Mature Ovarian Teratoma NCIT:C8112 mature teratoma of the ovary NCIT:C8112 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT mature teratoma NCIT:C9015 -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT mature teratoma NCIT:C9015 MONDO:0003835 gastric cardia adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of gastric cardia adenocarcinoma of gastric cardia Adenocarcinoma of Gastric Cardia NCIT:C5247 Gastric Cardia Adenocarcinoma DOID:6271 adenocarcinoma of gastric cardia NCIT:C5247 MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting Adenoma of the Pituitary NCIT:C7915 Thyrotroph Pituitary Neuroendocrine Tumor DOID:6275, NCIT:C8011 TSH secreting adenoma of the pituitary NCIT:C7915 MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma NCIT:C6286 cerebellar astrocytoma NCIT:C6286 -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C9475 Cerebellar Astrocytoma NCIT:C6286 cerebellar astrocytoma NCIT:C9475 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic condition genetic condition Genetic Condition NCIT:C3101 Genetic Disorder NCIT:C3101 genetic condition NCIT:C3101 MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disorder genetic disorder Genetic Disorder NCIT:C3101 Genetic Disorder NCIT:C3101 genetic disorder NCIT:C3101 MONDO:0003853 Bartholin gland adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of Bartholin's gland adenocarcinoma of Bartholin's gland Adenocarcinoma of Bartholin's Gland NCIT:C7719 Bartholin Gland Adenocarcinoma DOID:6316 adenocarcinoma of Bartholin's gland NCIT:C7719 MONDO:0003865 acral lentiginous melanoma oio:hasExactSynonym oio:hasRelatedSynonym acral melanoma acral melanoma Acral Melanoma NCIT:C4022 Acral Lentiginous Melanoma ONCOTREE:ACRM acral melanoma NCIT:C4022 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C8501 MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C9042 -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9042 brain stem glioma NCIT:C9091 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of testis childhood teratocarcinoma of testis Childhood Teratocarcinoma of Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood teratocarcinoma of testis NCIT:C6539 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis childhood teratocarcinoma of the testis Childhood Teratocarcinoma of the Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood teratocarcinoma of the testis NCIT:C6539 MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular teratocarcinoma childhood testicular teratocarcinoma Childhood Testicular Teratocarcinoma NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 childhood testicular teratocarcinoma NCIT:C6539 @@ -6244,42 +5211,25 @@ MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0003904 lung occult squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult squamous cell carcinoma of lung occult squamous cell carcinoma of lung Occult Squamous Cell Carcinoma of Lung NCIT:C6686 Occult Lung Squamous Cell Carcinoma DOID:6510 occult squamous cell carcinoma of lung NCIT:C6686 MONDO:0003923 ethmoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of ethmoid sinus Schneiderian papilloma of ethmoid sinus Schneiderian Papilloma of Ethmoid Sinus NCIT:C6836 Ethmoid Sinus Papilloma NCIT:C6836 Schneiderian papilloma of ethmoid sinus NCIT:C6836 MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma NCIT:C7535 visual pathway glioma NCIT:C7535 -MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C8567 Visual Pathway Glioma NCIT:C7535 visual pathway glioma NCIT:C8567 MONDO:0003933 chest wall bone cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant bone neoplasm of chest wall malignant bone neoplasm of chest wall Malignant Bone Neoplasm of Chest Wall NCIT:C6724 Malignant Chest Wall Bone Neoplasm DOID:6579 malignant bone neoplasm of chest wall NCIT:C6724 MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome NCIT:C3990 hyperimmunoglobulin M syndrome NCIT:C3990 MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C5793 -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C6206 -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma NCIT:C5793 central nervous system choriocarcinoma NCIT:C7012 MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma NCIT:C8292 pineoblastoma NCIT:C8292 -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C9344 Pineoblastoma NCIT:C8292 pineoblastoma NCIT:C9344 MONDO:0003962 Froelich syndrome oio:hasExactSynonym oio:hasRelatedSynonym adiposogenital dystrophy adiposogenital dystrophy Adiposogenital Dystrophy NCIT:C34625 Frohlich Syndrome GARD:0006463 adiposogenital dystrophy NCIT:C34625 -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva MESH:D009221 fibrodysplasia ossificans progressiva NCIT:C3040 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma DOID:6700, NCIT:C8398 cancer of fundus of stomach NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of gastric fundus cancer of gastric fundus Cancer of Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of gastric fundus NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fundus of the stomach cancer of the fundus of the stomach Cancer of the Fundus of the Stomach NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of the fundus of the stomach NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the gastric fundus cancer of the gastric fundus Cancer of the Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 cancer of the gastric fundus NCIT:C8398 MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric fundus (stomach) cancer gastric fundus (stomach) cancer Gastric Fundus (Stomach) Cancer NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 gastric fundus (stomach) cancer NCIT:C8398 MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer bilateral breast cancer Bilateral Breast Cancer NCIT:C8287 Bilateral Breast Carcinoma DOID:6741, NCIT:C8287 bilateral breast cancer NCIT:C8287 -MONDO:0003989 polyembryoma of the ovary oio:hasExactSynonym oio:hasRelatedSynonym polyembryoma polyembryoma Polyembryoma NCIT:C66776 Gonadal Polyembryoma ONCOTREE:OPE polyembryoma NCIT:C66776 MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4047 -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4047 MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma NCIT:C4048 pilocytic astrocytoma NCIT:C4048 -MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial Polyp NCIT:C3337 Fibroepithelial Polyp NCIT:C3337, DOID:6873 fibroepithelial polyp NCIT:C3337 -MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma bladder transitional cell papilloma Bladder Transitional Cell Papilloma NCIT:C39858 Bladder Urothelial Papilloma DOID:6933 bladder transitional cell papilloma NCIT:C39858 -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma NCIT:C9047 intraocular retinoblastoma NCIT:C7846 MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma NCIT:C9047 intraocular retinoblastoma NCIT:C9047 MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma NCIT:C4347 cerebral astrocytoma NCIT:C4347 -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4951 Cerebral Astrocytoma NCIT:C4347 cerebral astrocytoma NCIT:C4951 MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid squamous carcinoma of the esophagus basaloid squamous carcinoma of the esophagus Basaloid Squamous Carcinoma of the Esophagus NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 basaloid squamous carcinoma of the esophagus NCIT:C7032 MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma esophageal basaloid squamous cell carcinoma Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 esophageal basaloid squamous cell carcinoma NCIT:C7032 MONDO:0004094 multiple skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym multiple skull base meningiomas multiple skull base meningiomas Multiple Skull Base Meningiomas NCIT:C5279 Multiple Skull Base Meningiomas NCIT:C5279 multiple skull base meningiomas NCIT:C5279 -MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung small cell and large cell carcinoma of the lung Small Cell and Large Cell Carcinoma of the Lung NCIT:C9137 Combined Lung Small Cell Carcinoma NCIT:C9424, DOID:7081 small cell and large cell carcinoma of the lung NCIT:C9137 MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mixed small cell and squamous cell carcinoma of lung mixed small cell and squamous cell carcinoma of lung Mixed Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma DOID:7081 mixed small cell and squamous cell carcinoma of lung NCIT:C9423 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C3714 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C3714 -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C7944 MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C8095 epithelioid sarcoma NCIT:C8095 MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult adenocarcinoma of lung occult adenocarcinoma of lung Occult Adenocarcinoma of Lung NCIT:C6699 Occult Lung Adenocarcinoma DOID:7168, NCIT:C6699 occult adenocarcinoma of lung NCIT:C6699 MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult lung adenocarcinoma occult lung adenocarcinoma Occult Lung Adenocarcinoma NCIT:C6699 Occult Lung Adenocarcinoma NCIT:C6699 occult lung adenocarcinoma NCIT:C6699 @@ -6287,11 +5237,7 @@ MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelate MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult large cell lung carcinoma occult large cell lung carcinoma Occult Large Cell Lung Carcinoma NCIT:C6685 Occult Lung Large Cell Carcinoma NCIT:C6685 occult large cell lung carcinoma NCIT:C6685 MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed eosinophil-basophil adenoma mixed eosinophil-basophil adenoma Mixed Eosinophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma DOID:7179 mixed eosinophil-basophil adenoma NCIT:C4148 MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric CNS embryonal cell carcinoma pediatric CNS embryonal cell carcinoma Pediatric CNS Embryonal Cell Carcinoma NCIT:C6208 Childhood Central Nervous System Embryonal Carcinoma DOID:7231 pediatric CNS embryonal cell carcinoma NCIT:C6208 -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of urinary system neoplasm of urinary system Neoplasm of Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731 neoplasm of urinary system NCIT:C3431 -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the urinary system tumor of the urinary system Tumor of the Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731, NCIT:C3431 tumor of the urinary system NCIT:C3431 -MONDO:0004192 urethra cancer oio:hasExactSynonym oio:hasRelatedSynonym urethral cancer urethral cancer Urethral Cancer NCIT:C9106 Urethral Carcinoma ONCOTREE:UCA urethral cancer NCIT:C9106 MONDO:0004201 pituitary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym pituitary gland hypoplasia pituitary gland hypoplasia Pituitary Gland Hypoplasia NCIT:C27343 Pituitary Gland Hypoplasia NCIT:C27343 pituitary gland hypoplasia NCIT:C27343 -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma germinoma Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C8712 germinoma NCIT:C7009 MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular yolk Sac tumor, polyvesicular vitelline pattern testicular yolk Sac tumor, polyvesicular vitelline pattern Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 testicular yolk Sac tumor, polyvesicular vitelline pattern NCIT:C39930 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial neoplasm benign mesothelial neoplasm Benign Mesothelial Neoplasm NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign mesothelial neoplasm NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial tumor benign mesothelial tumor Benign Mesothelial Tumor NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign mesothelial tumor NCIT:C3762 @@ -6300,10 +5246,9 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign neoplasm of the mesothelium benign neoplasm of the mesothelium Benign Neoplasm of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign neoplasm of the mesothelium NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium Benign Tumor of Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign tumor of mesothelium NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of the mesothelium benign tumor of the mesothelium Benign Tumor of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 benign tumor of the mesothelium NCIT:C3762 +MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign MESOTHELIOMA, BENIGN NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, Benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 mesothelioma, benign NCIT:C3762 -MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma DOID:7497 brain ependymoma NCIT:C9372 MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma supratentorial ependymoma Supratentorial Ependymoma NCIT:C9043 Childhood Supratentorial Ependymoma, Not Otherwise Specified NCIT:C9043 supratentorial ependymoma NCIT:C9043 MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis breast intraductal papillomatosis Breast Intraductal Papillomatosis NCIT:C5201 Breast Intraductal Papillomatosis DOID:7511 breast intraductal papillomatosis NCIT:C5201 MONDO:0004254 focal intraductal papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym localized intraductal papillomatosis localized intraductal papillomatosis Localized Intraductal Papillomatosis NCIT:C7365 Focal Intraductal Papillomatosis NCIT:C7365 localized intraductal papillomatosis NCIT:C7365 @@ -6322,50 +5267,30 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic intraductal papillary-colloidal carcinoma pancreatic intraductal papillary-colloidal carcinoma Pancreatic Intraductal Papillary-Colloidal Carcinoma NCIT:C5725 Pancreatic Intraductal Papillary-Mucinous Carcinoma NCIT:C5725 pancreatic intraductal papillary-colloidal carcinoma NCIT:C5725 MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma breast scirrhous carcinoma Breast Scirrhous Carcinoma NCIT:C7362 Breast Scirrhous Carcinoma DOID:7578 breast scirrhous carcinoma NCIT:C7362 MONDO:0004290 subglottis verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym verrucous carcinoma of the subglottis verrucous carcinoma of the subglottis Verrucous Carcinoma of the Subglottis NCIT:C8190 Subglottic Verrucous Carcinoma DOID:7584 verrucous carcinoma of the subglottis NCIT:C8190 -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C4915 MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin acantholytic squamous cell carcinoma of skin Acantholytic Squamous Cell Carcinoma of Skin NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:7643 acantholytic squamous cell carcinoma of skin NCIT:C4460 MONDO:0004327 sphenoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of sphenoid sinus Schneiderian papilloma of sphenoid sinus Schneiderian Papilloma of Sphenoid Sinus NCIT:C6838 Sphenoid Sinus Papilloma NCIT:C6838 Schneiderian papilloma of sphenoid sinus NCIT:C6838 MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of maxillary sinus adenocarcinoma of maxillary sinus Adenocarcinoma of Maxillary Sinus NCIT:C6240 Maxillary Sinus Adenocarcinoma NCIT:C6240, DOID:7684 adenocarcinoma of maxillary sinus NCIT:C6240 MONDO:0004331 bladder urachal adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal adenocarcinoma urachal adenocarcinoma Urachal Adenocarcinoma NCIT:C39843 Urachal Adenocarcinoma ONCOTREE:UA urachal adenocarcinoma NCIT:C39843 -MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed ductal-endocrine carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma NCIT:C4301 +MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 mixed ductal-endocrine carcinoma NCIT:C6879 MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma NCIT:C8090 malignant hemangiopericytoma NCIT:C8090 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant peripheral nerve sheath tumour NCIT:C3798 -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C7814 MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 malignant peripheral nerve sheath tumor NCIT:C8094 -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma NCIT:C9048 extraocular retinoblastoma NCIT:C7848 MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma NCIT:C9048 extraocular retinoblastoma NCIT:C9048 MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma NCIT:C9372 brain ependymoma NCIT:C9372 -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C3161 Leukemia NCIT:C4989 leukemia NCIT:C3161 MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia NCIT:C4989 leukemia NCIT:C4989 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 cancer of subglottis NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the subglottis cancer of the subglottis Cancer of the Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 cancer of the subglottis NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic cancer subglottic cancer Subglottic Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 subglottic cancer NCIT:C5972 MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic throat cancer subglottic throat cancer Subglottic Throat Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 subglottic throat cancer NCIT:C5972 MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma NCIT:C27399 spinal cord ependymoma NCIT:C27399 -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma NCIT:C27399 spinal cord ependymoma NCIT:C3875 MONDO:0004371 spinal multifocal clear cell meningioma oio:hasExactSynonym oio:hasRelatedSynonym multifocal clear cell meningioma of the spine multifocal clear cell meningioma of the spine Multifocal Clear Cell Meningioma of the Spine NCIT:C5287 Spinal Multifocal Clear Cell Meningioma NCIT:C5287 multifocal clear cell meningioma of the spine NCIT:C5287 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C3904 -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C3904 MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma NCIT:C8293 papillary meningioma NCIT:C8293 MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma NCIT:C7925 extraskeletal osteosarcoma NCIT:C7925 -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma NCIT:C7925 extraskeletal osteosarcoma NCIT:C8810 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 follicular dendritic cell sarcoma NCIT:C9281 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 follicular dendritic cell sarcoma NCIT:C9281 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C27406 MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C5792 -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C5792 central nervous system germinoma NCIT:C7009 MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C27402 -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C27403 -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 central nervous system Mixed germ cell tumor NCIT:C7016 MONDO:0004441 childhood ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood embryonal carcinoma of the ovary childhood embryonal carcinoma of the ovary Childhood Embryonal Carcinoma of the Ovary NCIT:C6546 Childhood Ovarian Embryonal Carcinoma DOID:8036 childhood embryonal carcinoma of the ovary NCIT:C6546 MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C27406 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C5792 -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C27406 Central nervous system germinoma NCIT:C7009 MONDO:0004457 maxillary sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of maxillary sinus Schneiderian papilloma of maxillary sinus Schneiderian Papilloma of Maxillary Sinus NCIT:C6839 Maxillary Sinus Papilloma NCIT:C6839 Schneiderian papilloma of maxillary sinus NCIT:C6839 MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym skin pseudovascular squamous cell carcinoma skin pseudovascular squamous cell carcinoma Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 skin pseudovascular squamous cell carcinoma NCIT:C27542 MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym epiglottic carcinoma epiglottic carcinoma Epiglottic Carcinoma NCIT:C35697 Epiglottic Carcinoma NCIT:C35697 epiglottic carcinoma NCIT:C35697 @@ -6396,19 +5321,11 @@ MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelated MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of oxyphilic cell type thyroid gland follicular adenoma of oxyphilic cell type Thyroid Gland Follicular Adenoma of Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid gland follicular adenoma of oxyphilic cell type NCIT:C6042 MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of the oxyphilic cell type thyroid gland follicular adenoma of the oxyphilic cell type Thyroid Gland Follicular Adenoma of the Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid gland follicular adenoma of the oxyphilic cell type NCIT:C6042 MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid oncocytic adenoma thyroid oncocytic adenoma Thyroid Oncocytic Adenoma NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 thyroid oncocytic adenoma NCIT:C6042 -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:UCCA choriocarcinoma NCIT:C2948 MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer lung hilum cancer Lung Hilum Cancer NCIT:C7454 Lung Hilum Carcinoma NCIT:C7454 lung hilum cancer NCIT:C7454 MONDO:0004500 lung superior sulcus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym superior sulcus carcinoma of lung superior sulcus carcinoma of lung Superior Sulcus Carcinoma of Lung NCIT:C7779 Superior Sulcus Lung Carcinoma DOID:8208 superior sulcus carcinoma of lung NCIT:C7779 MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis NCIT:C6891, DOID:8243 leptomeningeal melanomatosis NCIT:C6891 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C3714 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C3714 MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C7944 -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C7944 epithelioid sarcoma NCIT:C8095 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C3798 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 malignant peripheral nerve sheath tumour NCIT:C3798 MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C7814 -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 malignant peripheral nerve sheath tumor NCIT:C8094 MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis Meckel's diverticulitis Meckel's Diverticulitis NCIT:C27300 Meckel Diverticulitis NCIT:C27300 Meckel's diverticulitis NCIT:C27300 MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym IFS NCIT:C4244 Infantile Fibrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IFS IFS NCIT:C4244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma DOID:8419 colloid adenoma NCIT:C4161 @@ -6416,12 +5333,10 @@ MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasR MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine deficiency pyridoxine deficiency Pyridoxine Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681 pyridoxine deficiency NCIT:C85221 MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym vitamin B6 deficiency vitamin B6 deficiency Vitamin B6 Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681, GARD:0004616 vitamin B6 deficiency NCIT:C85221 MONDO:0004597 pulmonary embolism and infarction oio:hasExactSynonym oio:hasRelatedSynonym pulmonary infarction pulmonary infarction Pulmonary Infarction NCIT:C50714 Pulmonary Infarction pulmonary infarction NCIT:C50714 -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym oropharyngeal carcinoma oropharyngeal carcinoma Oropharyngeal Carcinoma NCIT:C9105 Oropharyngeal Carcinoma DOID:8557, NCIT:C9105 oropharyngeal carcinoma NCIT:C9105 MONDO:0004619 measles oio:hasExactSynonym oio:hasRelatedSynonym rubeola rubeola Rubeola NCIT:C96406 Measles GARD:0003434 rubeola NCIT:C96406 MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the tongue malignant neoplasm of the tongue Malignant Neoplasm of the Tongue NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345 malignant neoplasm of the tongue NCIT:C9345 MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym tongue neoplasm malignant stage unspecified tongue neoplasm malignant stage unspecified Tongue Neoplasm Malignant Stage Unspecified NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345, DOID:8649 tongue neoplasm malignant stage unspecified NCIT:C9345 MONDO:0004647 in situ carcinoma oio:hasExactSynonym oio:hasBroadSynonym CIS NCIT:C2917 Carcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2917 CIS NCIT:C2917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004648 vascular dementia oio:hasExactSynonym oio:hasNarrowSynonym multi infarct dementia multi infarct dementia Multi Infarct Dementia NCIT:C34522 Multi-Infarct Dementia DOID:8725, MTH:NOCODE, NCIT:C34522 multi infarct dementia NCIT:C34522 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma, malignant chemodectoma, malignant CHEMODECTOMA, MALIGNANT NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 chemodectoma, malignant NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body neoplasm malignant carotid body neoplasm Malignant Carotid Body Neoplasm NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant carotid body neoplasm NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor malignant carotid body tumor Malignant Carotid Body Tumor NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant carotid body tumor NCIT:C3574 @@ -6429,37 +5344,21 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the carotid body malignant neoplasm of the carotid body Malignant Neoplasm of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant neoplasm of the carotid body NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of carotid body malignant tumor of carotid body Malignant Tumor of Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant tumor of carotid body NCIT:C3574 MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the carotid body malignant tumor of the carotid body Malignant Tumor of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 malignant tumor of the carotid body NCIT:C3574 -MONDO:0004669 salivary gland cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of major salivary gland malignant neoplasm of major salivary gland Malignant Neoplasm of Major Salivary Gland NCIT:C4762 Malignant Major Salivary Gland Neoplasm DOID:8850 malignant neoplasm of major salivary gland NCIT:C4762 MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma DOID:8991 squamous intraepithelial neoplasia, grade III NCIT:C27093 -MONDO:0004701 uterine polyp oio:hasExactSynonym oio:hasNarrowSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp NCIT:C6433, DOID:9042 polyp of endometrium NCIT:C6433 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of liver inflammatory pseudotumor of liver Inflammatory Pseudotumor of Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 inflammatory pseudotumor of liver NCIT:C5858 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor DOID:918, NCIT:C5858 inflammatory pseudotumor of the liver NCIT:C5858 MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor liver inflammatory pseudotumor Liver Inflammatory Pseudotumor NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 liver inflammatory pseudotumor NCIT:C5858 -MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym UCD NCIT:C115200 Unicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007837 UCD NCIT:C115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004749 myocardium cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of myocardium tumor of myocardium Tumor of Myocardium NCIT:C5349 Myocardial Neoplasm DOID:9299, NCIT:C5349 tumor of myocardium NCIT:C5349 -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis laryngitis Laryngitis NCIT:C26811 Laryngitis NCIT:C26688 laryngitis NCIT:C26811 -MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis meningitis Meningitis NCIT:C26828 Meningitis DOID:9471 meningitis NCIT:C26828 -MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal Ophthalmia Neonatorum NCIT:C116816 Gonococcal Ophthalmia Neonatorum DOID:9699 gonococcal ophthalmia neonatorum NCIT:C116816 MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia Areata NCIT:C50575 Alopecia NCIT:C50575 alopecia areata NCIT:C50575 -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis dacryoadenitis Dacryoadenitis NCIT:C26971 Dacryoadenitis MESH:D003607 dacryoadenitis NCIT:C26971 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911 cancer of stomach NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach cancer of the stomach Cancer of the Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911, DOID:5517 cancer of the stomach NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric (stomach) cancer gastric (stomach) cancer Gastric (Stomach) Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 gastric (stomach) cancer NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 gastric cancer NCIT:C4911 MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 stomach cancer NCIT:C4911 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma MONDO:patterns/cancer cancer of fundus of stomach NCIT:C8398 -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer gastric fundus cancer Gastric Fundus Cancer NCIT:C8398 Gastric Fundus Carcinoma DOID:10538 gastric fundus cancer NCIT:C8398 -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym oio:hasRelatedSynonym PTCL NCIT:C3468 Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PTCL PTCL NCIT:C3468 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia lymphoblastic leukemia Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3167 lymphoblastic leukemia NCIT:C3167 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma NCIT:C27094 Cylindroma GARD:0005743 cylindroma NCIT:C27094 -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma cribriform carcinoma Cribriform Carcinoma NCIT:C3680 Cribriform Carcinoma GARD:0005743 cribriform carcinoma NCIT:C3680 MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym adenoma, benign adenoma, benign ADENOMA, BENIGN NCIT:C2855 Adenoma NCIT:C2855 adenoma, benign NCIT:C2855 MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma pheochromocytoma Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma NCIT:C3326 pheochromocytoma NCIT:C3326 MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym AITL NCIT:C7528 Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AITL, GARD:0011973 AITL NCIT:C7528 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive Disorder NCIT:C34423 Bipolar Disorder NCIT:C34423, DOID:3312 manic depressive disorder NCIT:C34423 -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym bipolar depression bipolar depression Bipolar Depression NCIT:C34424 Bipolar Depression DOID:3312 bipolar depression NCIT:C34424 -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic bipolar affective disorder manic bipolar affective disorder Manic Bipolar Affective Disorder NCIT:C34805 Manic Bipolar Affective Disorder NCIT:C34805, DOID:3312 manic bipolar affective disorder NCIT:C34805 -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C4912 bladder cancer NCIT:C118816 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C4912 bladder cancer NCIT:C4912 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of bladder cancer of bladder Cancer of Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 cancer of bladder NCIT:C4912 MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the bladder cancer of the bladder Cancer of the Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 cancer of the bladder NCIT:C4912 @@ -6469,25 +5368,17 @@ MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma NCIT:C4872 breast cancer NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 cancer of breast NCIT:C4872 MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the breast cancer of the breast Cancer of the Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 cancer of the breast NCIT:C4872 -MONDO:0004993 carcinoma oio:hasExactSynonym oio:hasBroadSynonym epithelioma epithelioma Epithelioma NCIT:C3709 Epithelial Neoplasm DOID:305 epithelioma NCIT:C3709 -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C3171 -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C3171 MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia NCIT:C9160 acute myeloid leukemia (AML) NCIT:C9160 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell adenocarcinoma mesonephroid clear cell adenocarcinoma Mesonephroid Clear Cell Adenocarcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 mesonephroid clear cell adenocarcinoma NCIT:C3766 MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma DOID:4468, NCIT:C3766 mesonephroid clear cell carcinoma NCIT:C3766 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Wolffian duct neoplasm Wolffian duct neoplasm Wolffian Duct Neoplasm NCIT:C40141 Wolffian Tumor DOID:4468 Wolffian duct neoplasm NCIT:C40141 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant mesonephroma malignant mesonephroma Malignant Mesonephroma NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468, NCIT:C4072 malignant mesonephroma NCIT:C4072 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468 mesonephroma, malignant NCIT:C4072 -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C8028 Endometrial Clear Cell Adenocarcinoma NCIT:C3766 clear cell carcinoma NCIT:C8028 MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma hypernephroma Hypernephroma NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 hypernephroma NCIT:C4033 MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive Cardiomyopathy NCIT:C84673 Dilated Cardiomyopathy DOID:12930 congestive cardiomyopathy NCIT:C84673 MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast ductal carcinoma in situ breast ductal carcinoma in situ Breast Ductal Carcinoma In Situ NCIT:C2924 Breast Ductal Carcinoma In Situ ONCOTREE:DCIS breast ductal carcinoma in situ NCIT:C2924 -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 idiopathic thrombocythemia NCIT:C3407 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET NCIT:C3407 Essential Thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 ET NCIT:C3407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma thyroid gland adenocarcinoma Thyroid Gland Adenocarcinoma NCIT:C27380 Thyroid Gland Adenocarcinoma MONDO:patterns/location thyroid gland adenocarcinoma NCIT:C27380 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular adenocarcinoma NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated NCIT:C8054 Thyroid Gland Follicular Carcinoma DOID:3962 follicular adenocarcinoma, well differentiated NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of the thyroid follicular cancer of the thyroid Follicular Cancer of the Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of the thyroid NCIT:C8054 @@ -6495,31 +5386,19 @@ MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid follicular cancer of thyroid Follicular Cancer of Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of thyroid NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid gland follicular cancer of thyroid gland Follicular Cancer of Thyroid Gland NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 follicular cancer of thyroid gland NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland follicular cancer thyroid gland follicular cancer Thyroid Gland Follicular Cancer NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 thyroid gland follicular cancer NCIT:C8054 -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-Differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 +MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 well-differentiated follicular carcinoma NCIT:C8054 MONDO:0005036 gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym STAD NCIT:C4004 Gastric Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:STAD STAD NCIT:C4004 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension hypertension Hypertension NCIT:C3117 Hypertension DOID:10763 hypertension NCIT:C3117 MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN NCIT:C3117 Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 HTN NCIT:C3117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy NCIT:C84773 Familial Hypertrophic Cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy NCIT:C84773 MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility infertility Infertility NCIT:C3836 Infertility DOID:5223 infertility NCIT:C3836 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma DOID:3457 lobular carcinoma NCIT:C3771 -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular Carcinoma of the Breast NCIT:C3771 Breast Lobular Carcinoma DOID:3457 lobular carcinoma of the breast NCIT:C3771 MONDO:0005053 ischemic disease oio:hasExactSynonym oio:hasRelatedSynonym ischemia ischemia Ischemia NCIT:C34738 Ischemia DOID:326, NCIT:C34738 ischemia NCIT:C34738 -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple Hemorrhagic Sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 multiple hemorrhagic sarcoma NCIT:C9087 MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast medullary carcinoma breast medullary carcinoma Breast Medullary Carcinoma NCIT:C9119 Breast Medullary Carcinoma DOID:5605 breast medullary carcinoma NCIT:C9119 MONDO:0005070 neoplasm oio:hasExactSynonym oio:hasNarrowSynonym other neoplasm other neoplasm Other Neoplasm NCIT:C3262 Neoplasm NCIT:C3262 other neoplasm NCIT:C3262 -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy DOID:10591 toxemia of pregnancy NCIT:C34943 MONDO:0005082 prostate adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym PRAD prad PRAD NCIT:C2919 Prostate Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PRAD PRAD NCIT:C2919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton tumor of soft tissue and skeleton Tumor of Soft Tissue and Skeleton NCIT:C3810 Connective and Soft Tissue Neoplasm NCIT:C3810, DOID:1115 tumor of soft tissue and skeleton NCIT:C3810 -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective Disorder NCIT:C94378 Schizoaffective Disorder OMIM:181500 schizoaffective disorder NCIT:C94378 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma DOID:264 malignant hemangiopericytoma NCIT:C4301 -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma DOID:264 malignant hemangiopericytoma NCIT:C8090 MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke NCIT:C3390 cerebral infarction NCIT:C3390 -MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction NCIT:C3390 cerebral infarction NCIT:C50486 -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma NCIT:C26746 Scleroderma DOID:418 Scleroderma NCIT:C26746 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous Neoplasm NCIT:C4248 Lipomatous Neoplasm DOID:3315 lipomatous neoplasm NCIT:C4248 -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous Tumor NCIT:C4248 Lipomatous Neoplasm NCIT:C4248, DOID:3315 lipomatous tumor NCIT:C4248 MONDO:0005109 HIV infectious disease oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus infectious disease human immunodeficiency virus infectious disease Human Immunodeficiency Virus Infectious Disease NCIT:C3108 HIV Infection DOID:526 human immunodeficiency virus infectious disease NCIT:C3108 MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple's disease Whipple's disease Whipple's Disease NCIT:C85228 Whipple Disease ICD9CM:040.2, DOID:8476 Whipple's disease NCIT:C85228 MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix cancer of cervix Cancer of Cervix NCIT:C9039 Cervical Carcinoma DOID:2893, NCIT:C9039 cancer of cervix NCIT:C9039 @@ -6534,17 +5413,15 @@ MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of t MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma NCIT:C4878 lung cancer NCIT:C4878 MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 ovarian cancer NCIT:C4908 MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 ovarian epithelial cancer NCIT:C4908 -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C7431 Malignant Ovarian Neoplasm NCIT:C4908 ovarian cancer NCIT:C7431 MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis NCIT:C3389 Post-Traumatic Stress Disorder NCIT:C3389 combat neurosis NCIT:C3389 MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis liver cirrhosis Liver Cirrhosis NCIT:C2951 Cirrhosis DOID:5082 liver cirrhosis NCIT:C2951 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate cancer of prostate Cancer of Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 cancer of prostate NCIT:C4863 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of the prostate cancer of the prostate Cancer of the Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 cancer of the prostate NCIT:C4863 MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer prostate cancer Prostate Cancer NCIT:C4863 Prostate Carcinoma NCIT:C4863 prostate cancer NCIT:C4863 -MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic Tumor NCIT:C7075 Fibroblastic Neoplasm DOID:3355, NCIT:C7075 fibrocytic tumor NCIT:C7075 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor benign tumor Benign Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 benign tumor NCIT:C3677 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign unclassifiable tumor benign unclassifiable tumor Benign Unclassifiable Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 benign unclassifiable tumor NCIT:C3677 -MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign NEOPLASM, BENIGN NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 +MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 neoplasm, benign NCIT:C3677 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis Senile hyperkeratosis Senile Hyperkeratosis NCIT:C3148 Actinic Keratosis DOID:8866 Senile hyperkeratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile keratosis Senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 Senile keratosis NCIT:C3148 MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 senile keratosis NCIT:C3148 @@ -6565,62 +5442,33 @@ MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the hypopharynx cancer of the hypopharynx Cancer of the Hypopharynx NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 cancer of the hypopharynx NCIT:C9465 MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 hypopharyngeal cancer NCIT:C9465 MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal throat cancer hypopharyngeal throat cancer Hypopharyngeal Throat Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 hypopharyngeal throat cancer NCIT:C9465 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma NCIT:C7572 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma NCIT:C7572 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infection urinary tract infection Urinary Tract Infection NCIT:C50791 Urinary Tract Infection MONDO:ambiguous urinary tract infection NCIT:C50791 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infectious disease urinary tract infectious disease Urinary Tract Infectious Disease NCIT:C50791 Urinary Tract Infection NCIT:C50791 urinary tract infectious disease NCIT:C50791 MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym UTI NCIT:C50791 Urinary Tract Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C50791 UTI NCIT:C50791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder autism spectrum disorder Autism Spectrum Disorder NCIT:C88412 Autism Spectrum Disorder OMIM:209850 autism spectrum disorder NCIT:C88412 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder autistic disorder Autistic Disorder NCIT:C97161 Autism OMIM:209850 autistic disorder NCIT:C97161 -MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity hypersensitivity Hypersensitivity NCIT:C3114 Hypersensitivity DOID:1205 hypersensitivity NCIT:C3114 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym aregenerative anemia aregenerative anemia Aregenerative Anemia NCIT:C2872 Refractory Anemia NCIT:C2872 aregenerative anemia NCIT:C2872 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma serous cystadenocarcinoma Serous Cystadenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma DOID:3114 serous cystadenocarcinoma NCIT:C3778 -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma serous carcinoma Serous carcinoma NCIT:C7550 Ovarian Serous Adenocarcinoma DOID:3114 serous carcinoma NCIT:C7550 MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic Renal Insufficiency NCIT:C80078 Chronic Kidney Disease NCIT:C80078 chronic renal insufficiency NCIT:C80078 MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym necrotizing enterocolitis in fetus or newborn necrotizing enterocolitis in fetus or newborn Necrotizing Enterocolitis in Fetus or Newborn NCIT:C84915 Necrotizing Enterocolitis NCIT:C84915 necrotizing enterocolitis in fetus or newborn NCIT:C84915 MONDO:0005316 bacterial vaginosis oio:hasExactSynonym oio:hasBroadSynonym BV NCIT:C116973 Bacterial Vaginosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C116973 BV NCIT:C116973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous Stomatitis NCIT:C62546 Canker Sore NCIT:C62546 aphthous stomatitis NCIT:C62546 MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous stomatitis NCIT:C62546 Canker Sore NCIT:C62546 aphthous stomatitis NCIT:C62546 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C156767 Basal Cell Carcinoma NCIT:C2921 basal cell carcinoma NCIT:C156767 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921, DOID:2513 basal cell cancer NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921 basal cell carcinoma NCIT:C2921 MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym BCC NCIT:C2921 Skin Basal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2921 BCC NCIT:C2921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal cell tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 basal cell tumor NCIT:C3784 -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal Cell Tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 basal cell tumor NCIT:C3784 MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease DOID:11949 Creutzfeldt-Jakob disease NCIT:C26802 MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Basedow disease Basedow disease Basedow Disease NCIT:C3071 Graves Disease GARD:0006549 Basedow disease NCIT:C3071 MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' disease Graves' disease Graves' Disease NCIT:C3071 Graves Disease DOID:12361 Graves' disease NCIT:C3071 -MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor Malignant Bone Marrow Tumor NCIT:C35501 Malignant Bone Marrow Neoplasm DOID:4960 malignant bone marrow tumor NCIT:C35501 MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis nephrosis Nephrosis NCIT:C34845 Nephrotic Syndrome NCIT:C34845 nephrosis NCIT:C34845 -MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression neurotic depression Neurotic Depression NCIT:C35369 Neurotic Depression DOID:4964 neurotic depression NCIT:C35369 MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease NCIT:C3292 Paget's disease NCIT:C3292 -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease NCIT:C3292 Paget's disease NCIT:C7073 MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease peripheral artery disease Peripheral Artery Disease NCIT:C84496 Peripheral Artery Disease DOID:0050830 peripheral artery disease NCIT:C84496 MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism (female) hypergonadotropic hypogonadism (female) Hypergonadotropic Hypogonadism (Female) NCIT:C113352 Primary Ovarian Failure NCIT:C113352 hypergonadotropic hypogonadism (female) NCIT:C113352 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause premature menopause Premature Menopause NCIT:C80099 Premature Menopause DOID:5426 premature menopause NCIT:C80099 -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure premature ovarian failure Premature Ovarian Failure NCIT:C80099 Premature Menopause MESH:D016649, Orphanet:619 premature ovarian failure NCIT:C80099 MONDO:0005391 restless legs syndrome oio:hasExactSynonym oio:hasBroadSynonym RLS NCIT:C84501 Restless Leg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C84501 RLS NCIT:C84501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym gallbladder neoplasm gallbladder neoplasm Gallbladder Neoplasm NCIT:C3048 Gallbladder Neoplasm DOID:3121, MTH:NOCODE gallbladder neoplasm NCIT:C3048 -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the gallbladder tumor of the gallbladder Tumor of the Gallbladder NCIT:C3048 Gallbladder Neoplasm NCIT:C3048, DOID:3121 tumor of the gallbladder NCIT:C3048 MONDO:0005439 familial hypercholesterolemia oio:hasExactSynonym oio:hasRelatedSynonym type II hyperlipidemia type II hyperlipidemia Type II Hyperlipidemia NCIT:C34704 Hyperlipoproteinemia, Type II DOID:13810, NCIT:C34704 type II hyperlipidemia NCIT:C34704 -MONDO:0005447 testicular cancer oio:hasExactSynonym oio:hasBroadSynonym testicular tumor testicular tumor Testicular Tumor NCIT:C3404 Testicular Neoplasm DOID:2998, NCIT:C3404 testicular tumor NCIT:C3404 -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma Endometrial Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma DOID:2870 endometrial endometrioid adenocarcinoma NCIT:C6287 -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium Endometrioid Carcinoma of Endometrium NCIT:C6287 Endometrial Endometrioid Adenocarcinoma NCIT:C6287, DOID:2870 endometrioid carcinoma of endometrium NCIT:C6287 MONDO:0005462 primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor NCIT:C3716 neuroepithelioma NCIT:C3716 MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma NCIT:C27814 bile duct cancer NCIT:C27814 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne Botulism NCIT:C128341 Foodborne Botulism DOID:11976 foodborne botulism NCIT:C128341 MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym hereditary multiple exostoses hereditary multiple exostoses Hereditary Multiple Exostoses NCIT:C5183 Hereditary Multiple Exostoses GARD:0007035 hereditary multiple exostoses NCIT:C5183 -MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym peritoneal mesothelioma peritoneal mesothelioma Peritoneal Mesothelioma NCIT:C7633 Peritoneal Mesothelial Neoplasm DOID:1788 peritoneal mesothelioma NCIT:C7633 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasRelatedSynonym mouth cancer mouth cancer Mouth Cancer NCIT:C8990 Oral Cavity Carcinoma mouth cancer NCIT:C8990 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm MTH:NOCODE, DOID:8618 malignant neoplasm of floor of mouth NCIT:C9318 -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm NCIT:C9318, DOID:8618 malignant tumor of the floor of the mouth NCIT:C9318 -MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasNarrowSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder DOID:2256, NCIT:C34466 cartilage development disorder NCIT:C34466 MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasRelatedSynonym skeletal dysplasia skeletal dysplasia Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia NCIT:C84978 skeletal dysplasia NCIT:C84978 -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasBroadSynonym pharynx neoplasm pharynx neoplasm Pharynx Neoplasm NCIT:C3325 Pharyngeal Neoplasm DOID:0060119 pharynx neoplasm NCIT:C3325 -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal cancer pharyngeal cancer Pharyngeal Cancer NCIT:C9466 Pharyngeal Carcinoma DOID:0060119 pharyngeal cancer NCIT:C9466 MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma MONDO:patterns/location, DOID:4919 renal pelvis cancer NCIT:C6142 -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer malignant neoplasm of renal pelvis NCIT:C7525 -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, MONDO:patterns/cancer, NCIT:C7525 malignant renal pelvis neoplasm NCIT:C7525 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of small bowel cancer of small bowel Cancer of Small Bowel NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 cancer of small bowel NCIT:C7724 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the small bowel cancer of the small bowel Cancer of the Small Bowel NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 cancer of the small bowel NCIT:C7724 MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small bowel cancer small bowel cancer Small Bowel Cancer NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 small bowel cancer NCIT:C7724 @@ -6628,24 +5476,18 @@ MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 small intestine cancer NCIT:C7724 MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma renal cell carcinoma Renal Cell Carcinoma NCIT:C9385 Renal Cell Carcinoma NCIT:C9385 renal cell carcinoma NCIT:C9385 MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasNarrowSynonym clinical infection clinical infection Clinical Infection NCIT:C26726 Infectious Disorder NCIT:C26726 clinical infection NCIT:C26726 -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C26729 Connective Tissue Disorder NCIT:C27204 connective tissue disease NCIT:C26729 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen disease collagen disease Collagen Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 collagen disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen vascular disease collagen vascular disease Collagen Vascular Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 collagen vascular disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 connective tissue disease NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204 inflammatory rheumatism NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal pain disorder musculoskeletal pain disorder Musculoskeletal Pain Disorder NCIT:C27204 Rheumatologic Disorder NCIT:C27204 musculoskeletal pain disorder NCIT:C27204 MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym rheumatism rheumatism Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204, MESH:D012216 rheumatism NCIT:C27204 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer large intestine cancer Large Intestine Cancer NCIT:C2955 Colorectal Carcinoma DOID:5672 large intestine cancer NCIT:C2955 -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC NCIT:C2955 Colorectal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical CRC NCIT:C2955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma OMIM:114500 colon cancer NCIT:C4910 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct adenocarcinoma duct adenocarcinoma Duct Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 duct adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma duct carcinoma Duct Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 duct carcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal adenocarcinoma NCIT:C4017 MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal carcinoma ductal carcinoma Ductal Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 ductal carcinoma NCIT:C4017 MONDO:0005618 anxiety disorder oio:hasExactSynonym oio:hasBroadSynonym anxiety anxiety Anxiety NCIT:C2878 Anxiety Disorder DOID:2030, NCIT:C2878 anxiety NCIT:C2878 -MONDO:0005627 head and neck cancer oio:hasExactSynonym oio:hasBroadSynonym head and neck neoplasm head and neck neoplasm Head and Neck Neoplasm NCIT:C3077 Head and Neck Neoplasm DOID:11934, MTH:NOCODE head and neck neoplasm NCIT:C3077 -MONDO:0005634 acute hemorrhagic conjunctivitis oio:hasExactSynonym oio:hasRelatedSynonym viral conjunctivitis viral conjunctivitis Viral Conjunctivitis NCIT:C34509 Viral Conjunctivitis DOID:11227 viral conjunctivitis NCIT:C34509 MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis acute appendicitis Acute Appendicitis NCIT:C35145 Appendicitis DOID:8337 acute appendicitis NCIT:C35145 MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy NCIT:C26769 Cranial Nerve VII Palsy NCIT:C26769 facial palsy NCIT:C26769 MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym bird-breeder's lung bird-breeder's lung Bird-Breeder's Lung NCIT:C34425 Bird Fancier's Lung NCIT:C34425 bird-breeder's lung NCIT:C34425 @@ -6658,27 +5500,12 @@ MONDO:0005758 eunuchism oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotro MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis NCIT:C128360 Lymphatic Filariasis NORD:1082 Elephantiasis NCIT:C128360 MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis elephantiasis Elephantiasis NCIT:C128360 Lymphatic Filariasis NCIT:C128360, GARD:0003321 elephantiasis NCIT:C128360 MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemorrhagic fever with renal syndrome hemorrhagic fever with renal syndrome Hemorrhagic Fever with Renal Syndrome NCIT:C84753 Hemorrhagic Fever with Renal Syndrome DOID:11266 hemorrhagic fever with renal syndrome NCIT:C84753 -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym islet cell tumor islet cell tumor Islet Cell Tumor NCIT:C27720 Pancreatic Neuroendocrine Tumor DOID:1799 islet cell tumor NCIT:C27720 -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma DOID:1799, NCIT:C3770 malignant pancreatic endocrine tumor NCIT:C3770 MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym Weil disease Weil disease Weil Disease NCIT:C84825 Leptospirosis GARD:0007881 Weil disease NCIT:C84825 MONDO:0005827 lipoatrophic diabetes oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes mellitus lipoatrophic diabetes mellitus Lipoatrophic Diabetes Mellitus NCIT:C34537 Lipoatrophic Diabetes Mellitus MESH:D003923 lipoatrophic diabetes mellitus NCIT:C34537 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasRelatedSynonym adenopathy adenopathy Adenopathy NCIT:C50764 Lymphadenopathy DOID:75 adenopathy NCIT:C50764 MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasNarrowSynonym lymphadenopathy lymphadenopathy Lymphadenopathy NCIT:C50764 Lymphadenopathy NCIT:C50764 lymphadenopathy NCIT:C50764 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary Nonpolyposis Colorectal Cancer NCIT:C120083 Hereditary Nonpolyposis Colorectal Cancer Syndrome DOID:3883 hereditary nonpolyposis colorectal cancer NCIT:C120083 -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym male reproductive system neoplasm male reproductive system neoplasm Male Reproductive System Neoplasm NCIT:C3054 Male Reproductive System Neoplasm DOID:3856 male reproductive system neoplasm NCIT:C3054 -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of male reproductive system tumor of male reproductive system Tumor of Male Reproductive System NCIT:C3054 Male Reproductive System Neoplasm DOID:3856, NCIT:C3054 tumor of male reproductive system NCIT:C3054 -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym mediastinal tumor mediastinal tumor Mediastinal Tumor NCIT:C3221 Mediastinal Neoplasm DOID:5559, NCIT:C3221 mediastinal tumor NCIT:C3221 -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of mediastinum tumor of mediastinum Tumor of Mediastinum NCIT:C3221 Mediastinal Neoplasm DOID:5559 tumor of mediastinum NCIT:C3221 -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed neoplasm mixed neoplasm Mixed Neoplasm NCIT:C6930 Mixed Neoplasm DOID:154 mixed neoplasm NCIT:C6930 -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed tumor mixed tumor Mixed Tumor NCIT:C6930 Mixed Neoplasm DOID:154, NCIT:C6930 mixed tumor NCIT:C6930 -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym nervous system neoplasm nervous system neoplasm Nervous System Neoplasm NCIT:C3268 Nervous System Neoplasm DOID:3093 nervous system neoplasm NCIT:C3268 -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the nervous system tumor of the nervous system Tumor of the Nervous System NCIT:C3268 Nervous System Neoplasm DOID:3093, NCIT:C3268 tumor of the nervous system NCIT:C3268 MONDO:0005886 oral candidiasis oio:hasExactSynonym oio:hasBroadSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis DOID:14262, NCIT:C28137 thrush NCIT:C28137 -MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal neoplasm retroperitoneal neoplasm Retroperitoneal Neoplasm NCIT:C3357 Retroperitoneal Neoplasm NCIT:C3357, DOID:5875 retroperitoneal neoplasm NCIT:C3357 -MONDO:0005965 spinal stenosis oio:hasExactSynonym oio:hasNarrowSynonym lumbar spinal stenosis lumbar spinal stenosis Lumbar Spinal Stenosis NCIT:C177445 Lumbar Spinal Stenosis DOID:6725 lumbar spinal stenosis NCIT:C177445 -MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic Neoplasm NCIT:C3383 Splenic Neoplasm DOID:672, NCIT:C3383 splenic neoplasm NCIT:C3383 MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection whipworm infection Whipworm Infection NCIT:C128399 Trichuriasis GARD:0010720 whipworm infection NCIT:C128399 -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C61574 endometrial cancer NCIT:C7558 MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever Venezuelan equine fever Venezuelan Equine Fever NCIT:C35121 Venezuelan Equine Fever DOID:9584, ICD9CM:066.2 Venezuelan equine fever NCIT:C35121 MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma NCIT:C3781 Verrucous Carcinoma DOID:3737 warty carcinoma NCIT:C3781 MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal Cancer NCIT:C3491 Cecum Carcinoma NCIT:C3491, DOID:1519 cecal cancer NCIT:C3491 @@ -6705,13 +5532,8 @@ MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym oio:hasRelated MONDO:0006270 lobular breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast lobular carcinoma in situ breast lobular carcinoma in situ Breast Lobular Carcinoma In Situ NCIT:C4018 Breast Lobular Carcinoma In Situ ONCOTREE:LCIS breast lobular carcinoma in situ NCIT:C4018 MONDO:0006271 low grade central osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade central osteosarcoma low-grade central osteosarcoma Low-grade central osteosarcoma NCIT:C6474 Low Grade Central Osteosarcoma ONCOTREE:LGCOS low-grade central osteosarcoma NCIT:C6474 MONDO:0006272 low grade fibromyxoid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade fibromyxoid sarcoma low-grade fibromyxoid sarcoma Low-grade fibromyxoid sarcoma NCIT:C45202 Low Grade Fibromyxoid Sarcoma ONCOTREE:LGFMS low-grade fibromyxoid sarcoma NCIT:C45202 -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis NORD:1381 Lymphangioleiomyomatosis NCIT:C3725 -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis DOID:3319 lymphangioleiomyomatosis NCIT:C3725 -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym oio:hasRelatedSynonym lymphangiosarcoma of Stewart and Treves lymphangiosarcoma of Stewart and Treves Lymphangiosarcoma of Stewart and Treves NCIT:C4490 Skin Lymphangiosarcoma NCIT:C4490, DOID:2689 lymphangiosarcoma of Stewart and Treves NCIT:C4490 MONDO:0006284 major salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym major salivary gland cancer major salivary gland cancer Major Salivary Gland Cancer NCIT:C5907 Major Salivary Gland Carcinoma NCIT:C5907 major salivary gland cancer NCIT:C5907 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym malignant mesothelial neoplasm malignant mesothelial neoplasm Malignant Mesothelial Neoplasm NCIT:C4456 Malignant Mesothelioma NCIT:C4456 malignant mesothelial neoplasm NCIT:C4456 -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of pleura neoplasm of pleura Neoplasm of Pleura NCIT:C3332 Pleural Neoplasm DOID:5158 neoplasm of pleura NCIT:C3332 -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym pleural tumor pleural tumor Pleural Tumor NCIT:C3332 Pleural Neoplasm NCIT:C3332, DOID:5158 pleural tumor NCIT:C3332 MONDO:0006297 maxillary sinus adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of maxillary sinus adenoid cystic carcinoma of maxillary sinus Adenoid Cystic Carcinoma of Maxillary Sinus NCIT:C6239 Maxillary Sinus Adenoid Cystic Carcinoma DOID:7198, NCIT:C6239 adenoid cystic carcinoma of maxillary sinus NCIT:C6239 MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of mediastinum malignant germ cell neoplasm of mediastinum Malignant Germ Cell Neoplasm of Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 malignant germ cell neoplasm of mediastinum NCIT:C6446 MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of the mediastinum malignant germ cell neoplasm of the mediastinum Malignant Germ Cell Neoplasm of the Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 malignant germ cell neoplasm of the mediastinum NCIT:C6446 @@ -6728,13 +5550,8 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oi MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym myeloproliferative/myelodysplastic syndromes myeloproliferative/myelodysplastic syndromes Myeloproliferative/Myelodysplastic Syndromes NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm DOID:4972, NCIT:C27262 myeloproliferative/myelodysplastic syndromes NCIT:C27262 MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS-MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 MDS-MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS/MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 MDS/MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006312 myofibroma oio:hasExactSynonym oio:hasRelatedSynonym infantile hemangiopericytoma infantile hemangiopericytoma Infantile Hemangiopericytoma NCIT:C3742 Myofibromatosis NCIT:C7052 infantile hemangiopericytoma NCIT:C3742 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 Esthesioneuroepithelioma NCIT:C3789 MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 esthesioneuroblastoma NCIT:C3789 -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym ovarian transitional cell neoplasm ovarian transitional cell neoplasm Ovarian Transitional Cell Neoplasm NCIT:C3872 Ovarian Brenner Tumor DOID:4000 ovarian transitional cell neoplasm NCIT:C3872 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C27241 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C3011 -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST yolk sac tumor NCIT:C3011 MONDO:0006345 palmar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren's contracture Dupuytren's contracture Dupuytren's Contracture NCIT:C3469 Palmar Fibromatosis NCIT:C3469 Dupuytren's contracture NCIT:C3469 MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of accessory sinus Schneiderian papilloma of accessory sinus Schneiderian Papilloma of Accessory Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 Schneiderian papilloma of accessory sinus NCIT:C6835 MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of paranasal sinus Schneiderian papilloma of paranasal sinus Schneiderian Papilloma of Paranasal Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 Schneiderian papilloma of paranasal sinus NCIT:C6835 @@ -6759,84 +5576,40 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym ang MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the placenta angioma of the placenta Angioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 angioma of the placenta NCIT:C4868 MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the placenta hemangioma of the placenta Hemangioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 hemangioma of the placenta NCIT:C4868 MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym placental angioma placental angioma Placental Angioma NCIT:C4868 Placental Hemangioma NCIT:C4868 placental angioma NCIT:C4868 -MONDO:0006427 spindle cell melanoma oio:hasExactSynonym oio:hasRelatedSynonym desmoplastic melanoma desmoplastic melanoma Desmoplastic Melanoma NCIT:C37257 Desmoplastic Melanoma DOID:3162 desmoplastic melanoma NCIT:C37257 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell neoplasm transitional cell neoplasm Transitional Cell Neoplasm NCIT:C6783 Transitional Cell Neoplasm DOID:2671 transitional cell neoplasm NCIT:C6783 -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor transitional cell tumor Transitional Cell Tumor NCIT:C6783 Transitional Cell Neoplasm NCIT:C6783, DOID:2671 transitional cell tumor NCIT:C6783 MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma NCIT:C8993 ureter cancer NCIT:C8993 -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym choroidal melanoma choroidal melanoma Choroidal Melanoma NCIT:C4561 Choroid Melanoma Orphanet:39044 choroidal melanoma NCIT:C4561 -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasNarrowSynonym iris melanoma iris melanoma Iris Melanoma NCIT:C9088 Iris Melanoma Orphanet:39044 iris melanoma NCIT:C9088 -MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor malignant vaginal mixed epithelial and mesenchymal tumor Malignant Vaginal Mixed Epithelial and Mesenchymal Tumor NCIT:C40276 Malignant Vaginal Mixed Epithelial and Mesenchymal Neoplasm DOID:136 malignant vaginal mixed epithelial and mesenchymal tumor NCIT:C40276 MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor Vaginal Malignant Mixed Mesodermal (Mullerian) Tumor NCIT:C40278 Vaginal Carcinosarcoma NCIT:C40278 vaginal malignant mixed mesodermal (Mullerian) tumor NCIT:C40278 -MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary cystadenoma lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 +MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 papillary cystadenoma lymphomatosum NCIT:C2854 MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma angioma Angioma NCIT:C3085 Hemangioma NCIT:C3085 angioma NCIT:C3085 MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym benign angioma benign angioma Benign Angioma NCIT:C3085 Hemangioma NCIT:C3085 benign angioma NCIT:C3085 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute lung injury acute lung injury Acute Lung Injury NCIT:C155766 Acute Lung Injury GARD:0005698 acute lung injury NCIT:C155766 -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALI NCIT:C155766 Acute Lung Injury http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005698 ALI NCIT:C155766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis DOID:2352 hemochromatosis NCIT:C82892 MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm NCIT:C4005 malignant neoplasm NCIT:C4005 -MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C9305 Malignant Neoplasm NCIT:C4005 malignant neoplasm NCIT:C9305 -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of rectum carcinoma of rectum Carcinoma of Rectum NCIT:C9382 Rectal Carcinoma DOID:1993 carcinoma of rectum NCIT:C9382 -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of the rectum carcinoma of the rectum Carcinoma of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382, DOID:1993 carcinoma of the rectum NCIT:C9382 MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma NCIT:C9325 adrenal cortex cancer NCIT:C9325 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant adrenocortical tumor malignant adrenocortical tumor Malignant Adrenocortical Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm NCIT:C9327, DOID:660 malignant adrenocortical tumor NCIT:C9327 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of adrenal cortex malignant neoplasm of adrenal cortex Malignant Neoplasm of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 malignant neoplasm of adrenal cortex NCIT:C9327 -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of adrenal cortex malignant tumor of adrenal cortex Malignant Tumor of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 malignant tumor of adrenal cortex NCIT:C9327 -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis Orphanet:280886 iridocyclitis NCIT:C34736 -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm choroid neoplasm Choroid Neoplasm NCIT:C2949 Choroid Neoplasm DOID:12759 choroid neoplasm NCIT:C2949 -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal Tumor NCIT:C2949 Choroid Neoplasm NCIT:C2949, DOID:12759 choroidal tumor NCIT:C2949 MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy oio:hasExactSynonym oio:hasRelatedSynonym chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyneuritis Chronic Inflammatory Demyelinating Polyneuritis NCIT:C84636 Chronic Inflammatory Demyelinating Polyneuropathy DOID:2536 chronic inflammatory demyelinating polyneuritis NCIT:C84636 -MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum neoplasm of the duodenum Neoplasm of the Duodenum NCIT:C2995 Duodenal Neoplasm NCIT:C2995, DOID:1737 neoplasm of the duodenum NCIT:C2995 -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma hidradenoma Hidradenoma NCIT:C7563 Hidradenoma MESH:D018250, GARD:0005726 hidradenoma NCIT:C7563 -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ cystadenoma NCIT:C2972 -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis NCIT:C35110 pars planitis NCIT:C34903 MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis NCIT:C35110 pars planitis NCIT:C35110 MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasRelatedSynonym joint disorder joint disorder Joint Disorder NCIT:C35760 Arthropathy joint disorder NCIT:C35760 -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism NCIT:C34752 hypogonadotropic hypogonadism NCIT:C113347 MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome NCIT:C34752 hypogonadotropic hypogonadism NCIT:C34752 -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome Vertebral artery syndrome Vertebral Artery Syndrome NCIT:C35123 Vertebral Artery Syndrome GARD:0009263 Vertebral artery syndrome NCIT:C35123 MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome Lateral Medullary Syndrome NCIT:C84807 Lateral Medullary Syndrome GARD:0009263 Lateral medullary syndrome NCIT:C84807 MONDO:0006840 lymphangiectasis oio:hasExactSynonym oio:hasRelatedSynonym lymphangiectasia lymphangiectasia Lymphangiectasia NCIT:C97087 Lymphangiectasia GARD:0006933 lymphangiectasia NCIT:C97087 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma NCIT:C35815 -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 granulocytic sarcoma NCIT:C35815 -MONDO:0006921 Actinomycetales infectious disease oio:hasExactSynonym oio:hasRelatedSynonym actinomycosis actinomycosis Actinomycosis NCIT:C34350 Actinomycosis actinomycosis NCIT:C34350 MONDO:0006926 haemophilus infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Hemophilus infection Hemophilus infection Hemophilus Infection NCIT:C34654 Hemophilus Infection MESH:D006192 Hemophilus infection NCIT:C34654 -MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor Malignant Sebaceous Tumor NCIT:C8409 Malignant Sebaceous Neoplasm DOID:4840, NCIT:C8409 malignant sebaceous tumor NCIT:C8409 -MONDO:0006976 somatostatinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma GARD:0004900 malignant islet cell tumor NCIT:C3770 -MONDO:0006998 tonsil cancer oio:hasExactSynonym oio:hasBroadSynonym cancer of tonsil cancer of tonsil Cancer of Tonsil NCIT:C4825 Tonsillar Carcinoma MONDO:patterns/cancer cancer of tonsil NCIT:C4825 MONDO:0007000 Treponema infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Treponemal infection Treponemal infection Treponemal Infection NCIT:C85197 Treponemal Infection MESH:D014211 Treponemal infection NCIT:C85197 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome Eagle-Barrett Syndrome NCIT:C85033 Prune Belly Syndrome OMIM:100100 eagle-Barrett syndrome NCIT:C85033 MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve VI palsy cranial nerve VI palsy Cranial Nerve VI Palsy NCIT:C27592 Cranial Nerve VI Palsy GARD:0009482 cranial nerve VI palsy NCIT:C27592 -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder VIth nerve disorder VIth Nerve Disorder NCIT:C27593 Abducens Nerve Disorder NCIT:C27593, DOID:10865 VIth nerve disorder NCIT:C27593 -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease abducens nerve disease Abducens Nerve Disease NCIT:C27593 Abducens Nerve Disorder DOID:10865 abducens nerve disease NCIT:C27593 MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 NCIT:C3274 acoustic neurofibromatosis NCIT:C3274 MONDO:0007042 Saethre-Chotzen syndrome oio:hasExactSynonym oio:hasRelatedSynonym acrocephalosyndactyly type III acrocephalosyndactyly type III Acrocephalosyndactyly Type III NCIT:C75034 Type III Acrocephalosyndactyly DOID:14768 acrocephalosyndactyly type III NCIT:C75034 MONDO:0007043 Pfeiffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Noack syndrome Noack syndrome Noack Syndrome NCIT:C99100 Type V Acrocephalosyndactyly OMIM:101600, Wikipedia:Acrocephalosyndactylia Noack syndrome NCIT:C99100 MONDO:0007044 Acrodysostosis 1 with or without hormone resistance oio:hasExactSynonym oio:hasRelatedSynonym ACRDYS1 NCIT:C136464 Acrodysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:101800, MONDO:Lexical ACRDYS1 NCIT:C136464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 NCIT:C168756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer anal canal cancer Anal Canal Cancer NCIT:C7489 Anal Canal Carcinoma NCIT:C7489 anal canal cancer NCIT:C7489 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 cloacogenic carcinoma NCIT:C8255 -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic Carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 cloacogenic carcinoma NCIT:C8255 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 NCIT:C176911 Diamond-Blackfan Anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 NCIT:C176911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar Syndrome NCIT:C85056 Scimitar Syndrome DOID:4297 scimitar syndrome NCIT:C85056 MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym STL1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:108300 STL1 NCIT:C168733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's disease Behcet's disease Behcet's Disease NCIT:C34416 Behcet Syndrome DOID:13241 Behcet's disease NCIT:C34416 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma NCIT:C122660 Hardcastle's Syndrome MONDO:Lexical, OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma NCIT:C122660 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease Lenegre-Lev Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia OMIM:113900 Lenegre-Lev disease NCIT:C126651 -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD NCIT:C4345 Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 CMPD NCIT:C4345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor breast tumor Breast Tumor NCIT:C2910 Breast Neoplasm NCIT:C2910, DOID:1612 breast tumor NCIT:C2910 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma NCIT:C3728 Hepatoblastoma OMIM:114550 hepatoblastoma NCIT:C3728 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C7927, DOID:686 liver and intrahepatic bile duct carcinoma NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma OMIM:114550 liver cancer NCIT:C7927 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma adult hepatoma Adult Hepatoma NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956, DOID:684 adult hepatoma NCIT:C7956 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma adult primary hepatocellular carcinoma Adult Primary Hepatocellular Carcinoma NCIT:C7956 Adult Hepatocellular Carcinoma DOID:684 adult primary hepatocellular carcinoma NCIT:C7956 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte Adhesion Deficiency NCIT:C27874 Leukocyte Adhesion Deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency NCIT:C27874 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 Immunodeficiency NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 OMIM:116920 Lfa1 immunodeficiency NCIT:C4689 MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 LAD1 NCIT:C4689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of Aorta NCIT:C84567 Aortic Coarctation OMIM:120000 coarctation of aorta NCIT:C84567 MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome Papillorenal Syndrome NCIT:C123230 Renal Coloboma Syndrome MONDO:Lexical, OMIM:120330 PAPILLORENAL syndrome NCIT:C123230 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LYNCH syndrome I LYNCH syndrome I Lynch Syndrome I NCIT:C6725 Lynch 1 Syndrome OMIM:120435 LYNCH syndrome I NCIT:C6725 -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 Lynch Syndrome 2 NCIT:C6726 Lynch 2 Syndrome OMIM:120435 Lynch syndrome 2 NCIT:C6726 MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 9 arthrogryposis, distal, type 9 Arthrogryposis, Distal, Type 9 NCIT:C129865 Congenital Contractural Arachnodactyly OMIM:121050, MONDO:Lexical arthrogryposis, distal, type 9 NCIT:C129865 MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic Diabetes Insipidus NCIT:C84933 Neurogenic Diabetes Insipidus NCIT:C84933 neurogenic diabetes insipidus NCIT:C84933 MONDO:0007452 maturity-onset diabetes of the young type 1 oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young, type 1 maturity-onset diabetes of the young, type 1 Maturity-Onset Diabetes of the Young, Type 1 NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes OMIM:125850, MONDO:Lexical, GARD:0003418 maturity-onset diabetes of the young, type 1 NCIT:C129744 @@ -6844,19 +5617,15 @@ MONDO:0007453 maturity-onset diabetes of the young type 2 oio:hasExactSynonym oi MONDO:0007481 Leri-Weill dyschondrosteosis oio:hasExactSynonym oio:hasRelatedSynonym dyschondrosteosis dyschondrosteosis Dyschondrosteosis NCIT:C126560 Leri-Weill Dyschondrosteosis GARD:0003224, OMIM:127300 dyschondrosteosis NCIT:C126560 MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym dyschromatosis symmetrica hereditaria 1 dyschromatosis symmetrica hereditaria 1 Dyschromatosis Symmetrica Hereditaria 1 NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 dyschromatosis symmetrica hereditaria 1 NCIT:C118435 MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym symmetric dyschromatosis of the extremities symmetric dyschromatosis of the extremities Symmetric Dyschromatosis of the Extremities NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 symmetric dyschromatosis of the extremities NCIT:C118435 -MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic Torsion Dystonia NCIT:C34564 Idiopathic Torsion Dystonia Orphanet:256 idiopathic torsion dystonia NCIT:C34564 MONDO:0007496 dystonia 12 oio:hasExactSynonym oio:hasRelatedSynonym rapid-onset dystonia-parkinsonism rapid-onset dystonia-parkinsonism Rapid-Onset Dystonia-Parkinsonism NCIT:C157577 Dystonia 12 Orphanet:71517 rapid-onset dystonia-parkinsonism NCIT:C157577 MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 NCIT:C3225 multiple endocrine adenomatosis NCIT:C3225 -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia NCIT:C3225 multiple endocrine adenomatosis NCIT:C6432 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign hair follicle neoplasm benign hair follicle neoplasm Benign Hair Follicle Neoplasm NCIT:C7368 Pilomatricoma NCIT:C7368 benign hair follicle neoplasm NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatricoma benign pilomatricoma Benign Pilomatricoma NCIT:C7368 Pilomatricoma DOID:5374 benign pilomatricoma NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatrixoma benign pilomatrixoma Benign Pilomatrixoma NCIT:C7368 Pilomatricoma NCIT:C7368 benign pilomatrixoma NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying Epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 calcifying epithelioma of Malherbe NCIT:C7368 MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 calcifying epithelioma of Malherbe NCIT:C7368 -MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of abdominal esophagus malignant tumor of abdominal esophagus Malignant Tumor of Abdominal Esophagus NCIT:C4764 Malignant Neoplasm of the Abdominal Esophagus NCIT:C4764, DOID:5041 malignant tumor of abdominal esophagus NCIT:C4764 MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 NCIT:C18252 EXT2 Gene http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 EXT2 NCIT:C18252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 NCIT:C175048 Exudative Vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 EVR1 NCIT:C175048 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity retinopathy of prematurity Retinopathy of Prematurity NCIT:C34982 Retinopathy of Prematurity OMIM:133780 retinopathy of prematurity NCIT:C34982 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva NCIT:C3040 MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS NCIT:C175241 Floating-Harbor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 FLHS NCIT:C175241 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p12.1 deletion syndrome, 520-KB chromosome 16p12.1 deletion syndrome, 520-KB Chromosome 16p12.1 Deletion Syndrome, 520-KB NCIT:C129875 Chromosome 16p12.1 Deletion Syndrome OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-KB NCIT:C129875 @@ -6864,33 +5633,19 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 frontonasal dysplasia 1 Frontonasal Dysplasia 1 NCIT:C129028 Frontonasal Dysplasia OMIM:136760, MONDO:Lexical frontonasal dysplasia 1 NCIT:C129028 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 NCIT:C129028 Frontonasal Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical FND1 NCIT:C129028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007644 IgAD1 oio:hasExactSynonym oio:hasRelatedSynonym IMMUNOGLOBULIN A deficiency 1 IMMUNOGLOBULIN A deficiency 1 Immunoglobulin A Deficiency 1 NCIT:C123434 Immunoglobulin A Deficiency 1 MONDO:Lexical, OMIM:137100 IMMUNOGLOBULIN A deficiency 1 NCIT:C123434 -MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym GTS NCIT:C118370 Growing Teratoma Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137580, Orphanet:856, MONDO:Lexical GTS NCIT:C118370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome NCIT:C35078 Tourette Syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 Gilles de la Tourette syndrome NCIT:C35078 -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis NCIT:C27496 Glomangiomatosis Orphanet:83454 glomangiomatosis NCIT:C27496 MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre Syndrome NCIT:C123815 Myhre Syndrome OMIM:139210 MYHRE syndrome NCIT:C123815 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188 autoimmune thyroiditis NCIT:C27191 MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188, NCIT:C38766 lymphocytic thyroiditis NCIT:C27191 MONDO:0007743 attention deficit-hyperactivity disorder oio:hasExactSynonym oio:hasRelatedSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146800 IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency NCIT:C126342 hyper-IgE recurrent infection syndrome NCIT:C126342 -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism NCIT:C4375 nesidioblastosis NCIT:C131425 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis NCIT:C4375 nesidioblastosis NCIT:C4375 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia laryngomalacia Laryngomalacia NCIT:C98971 Laryngomalacia OMIM:150280 laryngomalacia NCIT:C98971 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia monocytic leukemia Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C4861 monocytic leukemia NCIT:C4861 MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym oio:hasRelatedSynonym lichen SCLEROSUS ET ATROPHICUS lichen SCLEROSUS ET ATROPHICUS Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus OMIM:151590 lichen SCLEROSUS ET ATROPHICUS NCIT:C26817 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Launois-Bensaude syndrome Launois-Bensaude syndrome Launois-Bensaude Syndrome NCIT:C3193 Lipomatosis GARD:0006957 Launois-Bensaude syndrome NCIT:C3193 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Madelung disease Madelung Disease NCIT:C3193 Lipomatosis Orphanet:2398 Madelung disease NCIT:C3193 -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Madelung's disease Madelung's disease Madelung's Disease NCIT:C3193 Lipomatosis GARD:0006957 Madelung's disease NCIT:C3193 -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome OMIM:153480 Ruvalcaba-Myhre-Smith syndrome NCIT:C3076 MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 4 46,XY SEX reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 OMIM:154230 46,XY SEX reversal 4 NCIT:C132270 MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym SRXY4 NCIT:C132270 46,XY Sex Reversal 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154230 SRXY4 NCIT:C132270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria Pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 urticaria pigmentosa NCIT:C3433 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 urticaria pigmentosa NCIT:C3433 MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym MAST cell disease MAST cell disease Mast Cell Disease NCIT:C84269 Mastocytosis OMIM:154800 MAST cell disease NCIT:C84269 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified NCIT:C5398, DOID:0050902 CNS PNET NCIT:C5398 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 CPNET NCIT:C5398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 medulloblastoma with extensive nodularity NCIT:C5407 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 medulloblastoma with extensive nodularity NCIT:C5407 MONDO:0007962 megalodactyly oio:hasExactSynonym oio:hasRelatedSynonym macrodactyly macrodactyly Macrodactyly NCIT:C48900 Macrodactyly OMIM:155500 macrodactyly NCIT:C48900 MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 1 mental retardation, autosomal dominant 1 Mental Retardation, Autosomal Dominant 1 NCIT:C141424 Mental Retardation, Autosomal Dominant 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:156200 mental retardation, autosomal dominant 1 NCIT:C141424 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF NCIT:C188216 Cardiospondylocarpofacial Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 CSCF NCIT:C188216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -6898,82 +5653,59 @@ MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 Bethlem Myopathy 1 NCIT:C126688 Bethlem Myopathy 1 OMIM:158810, MONDO:Lexical Bethlem myopathy 1 NCIT:C126688 MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym BTHLM1 NCIT:C126688 Bethlem Myopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158810 BTHLM1 NCIT:C126688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 NCIT:C172704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral Muscular Dystrophy NCIT:C84704 Facioscapulohumeral Muscular Dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy NCIT:C84704 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 FSHD2 NCIT:C172705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATXPC NCIT:C176909 Ataxia-Pancytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159550 ATXPC NCIT:C176909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JPM NCIT:C114358 Juvenile Polymyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 JPM NCIT:C114358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JDM NCIT:C27576 Childhood Dermatomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 JDM NCIT:C27576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis myositis Myositis NCIT:C27578 Myositis OMIM:160750 myositis NCIT:C27578 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 dystrophia myotonica 1 Dystrophia Myotonica 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900 dystrophia myotonica 1 NCIT:C84679 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 myotonic dystrophy 1 Myotonic Dystrophy 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900, MONDO:Lexical myotonic dystrophy 1 NCIT:C84679 MONDO:0008062 narcolepsy 1 oio:hasExactSynonym oio:hasRelatedSynonym cataplexy cataplexy Cataplexy NCIT:C84618 Cataplexy OMIM:161400 cataplexy NCIT:C84618 MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 3 nemaline myopathy 3 Nemaline Myopathy 3 NCIT:C129870 Nemaline Myopathy 3 NCIT:C129870, OMIM:161800, MONDO:Lexical nemaline myopathy 3 NCIT:C129870 MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NEM3 NCIT:C129870 Nemaline Myopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:161800, DOID:0110927, MONDO:Lexical NEM3 NCIT:C129870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Schwannomatosis neurinoma NCIT:C3269 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym oio:hasRelatedSynonym CLN4B NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:162350, MONDO:Lexical CLN4B NCIT:C128116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic Neutropenia NCIT:C3820 Cyclic Neutropenia OMIM:162800 cyclic neutropenia NCIT:C3820 MONDO:0008095 nevus anemicus oio:hasExactSynonym oio:hasRelatedSynonym NEVUS anemicus NEVUS anemicus Nevus Anemicus NCIT:C3943 Nevus Anemicus OMIM:163050 NEVUS anemicus NCIT:C3943 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome Noonan Syndrome NCIT:C34854 Noonan Syndrome OMIM:163950 Noonan syndrome NCIT:C34854 MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008145 Ollier disease oio:hasExactSynonym oio:hasRelatedSynonym enchondromatosis enchondromatosis Enchondromatosis NCIT:C3008 Enchondromatosis GARD:0007251 enchondromatosis NCIT:C3008 -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym ovarian neoplasm ovarian neoplasm Ovarian Neoplasm NCIT:C4984 Ovarian Neoplasm DOID:2394, MTH:NOCODE ovarian neoplasm NCIT:C4984 -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm DOID:2394, NCIT:C4984 tumor of the ovary NCIT:C4984 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget disease, extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 Paget disease, EXTRAMAMMARY NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget Disease, Extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 Paget disease, EXTRAMAMMARY NCIT:C3302 MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym cutaneous Paget's disease cutaneous Paget's disease Cutaneous Paget's Disease NCIT:C3302 Extramammary Paget Disease NCIT:C3302 cutaneous Paget's disease NCIT:C3302 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 OMIM:167320, MONDO:Lexical inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 NCIT:C122663 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym IBMPFD1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167320 IBMPFD1 NCIT:C122663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HP Hp HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita OMIM:168300 paramyotonia congenita of VON Eulenburg NCIT:C122790 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym PMC NCIT:C122790 Paramyotonia Congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168300 PMC NCIT:C122790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign Familial Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 benign familial pemphigus NCIT:C82865 MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym familial benign pemphigus familial benign pemphigus Familial Benign Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 familial benign pemphigus NCIT:C82865 MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS NCIT:C84559 Long QT Syndrome 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS NCIT:C84559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease Pick's disease Pick's Disease NCIT:C85008 Pick's Disease DOID:11870 Pick's disease NCIT:C85008 -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous Dysplasia of Bone NCIT:C34609 Fibrous Dysplasia NCIT:C34609 fibrous dysplasia of bone NCIT:C34609 MONDO:0008277 stomach polyp oio:hasExactSynonym oio:hasRelatedSynonym gastric polyposis gastric polyposis Gastric Polyposis NCIT:C3954 Gastric Polyp NCIT:C3954 gastric polyposis NCIT:C3954 MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Greig syndrome Greig syndrome Greig Syndrome NCIT:C35255 Greig Syndrome GARD:0006550 Greig syndrome NCIT:C35255 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP NCIT:C35806 Acute Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP NCIT:C35806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, acute intermittent porphyria, acute intermittent Porphyria, Acute Intermittent NCIT:C84536 Acute Intermittent Porphyria OMIM:176000, MONDO:Lexical porphyria, acute intermittent NCIT:C84536 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria NCIT:C34951 Progeria OMIM:176670, Orphanet:740 progeria NCIT:C34951 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasNarrowSynonym hereditary prostate cancer hereditary prostate cancer Hereditary Prostate Cancer NCIT:C103817 Hereditary Prostate Carcinoma DOID:10283 hereditary prostate cancer NCIT:C103817 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym prostate neoplasm prostate neoplasm Prostate Neoplasm NCIT:C3343 Prostate Neoplasm DOID:10283 prostate neoplasm NCIT:C3343 -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the prostate tumor of the prostate Tumor of the Prostate NCIT:C3343 Prostate Neoplasm DOID:10283, NCIT:C3343 tumor of the prostate NCIT:C3343 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym erythropoietic protoporphyria erythropoietic protoporphyria Erythropoietic Protoporphyria NCIT:C84698 Erythropoietic Protoporphyria NCIT:C84698 erythropoietic protoporphyria NCIT:C84698 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, Erythropoietic NCIT:C84698 Erythropoietic Protoporphyria OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic NCIT:C84698 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym EPP NCIT:C84698 Erythropoietic Protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004527, OMIM:177000, MONDO:Lexical EPP NCIT:C84698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRelatedSynonym pseudo-VON WILLEBRAND disease pseudo-VON WILLEBRAND disease Pseudo-von Willebrand Disease NCIT:C131681 Platelet-Type von Willebrand Disease OMIM:177820 pseudo-VON WILLEBRAND disease NCIT:C131681 MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg Craniosynostosis Syndrome NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome OMIM:182212, MONDO:Lexical Shprintzen-Goldberg craniosynostosis syndrome NCIT:C124840 -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat Cell Carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 oat cell carcinoma NCIT:C3915 -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat cell carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 oat cell carcinoma NCIT:C3915 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC NCIT:C4917 Lung Small Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 SCLC NCIT:C4917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym oio:hasRelatedSynonym Strumpell disease Strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A OMIM:182600 Strumpell disease NCIT:C142893 MONDO:0008438 hereditary spastic paraplegia 4 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 4 spastic paraplegia 4 Spastic Paraplegia 4 NCIT:C129981 Spastic Paraplegia 4 GARD:0004925 spastic paraplegia 4 NCIT:C129981 -MONDO:0008449 spina bifida oio:hasExactSynonym oio:hasRelatedSynonym NTD NCIT:C84923 Neural Tube Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182940, MONDO:Lexical NTD NCIT:C84923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym HMN1 NCIT:C132826 Distal Hereditary Motor Neuronopathy Type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:182960 HMN1 NCIT:C132826 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 Wadia-swami syndrome NCIT:C148315 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 2 olivopontocerebellar atrophy 2 Olivopontocerebellar Atrophy 2 NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 olivopontocerebellar atrophy 2 NCIT:C148315 -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym ectrodactyly ectrodactyly Ectrodactyly NCIT:C75000 Ectrodactyly OMIM:183600 ectrodactyly NCIT:C75000 MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 1 split-hand/foot malformation 1 Split-Hand/Foot Malformation 1 NCIT:C75045 Split-Hand/Foot Malformation Type 1 MONDO:Lexical, OMIM:183600 split-hand/foot malformation 1 NCIT:C75045 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person Syndrome NCIT:C85170 Stiff Person Syndrome OMIM:184850 STIFF-PERSON syndrome NCIT:C85170 MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff Skin Syndrome NCIT:C118636 Stiff Skin Syndrome OMIM:184900 STIFF skin syndrome NCIT:C118636 -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia Rheumatica NCIT:C85018 Polymyalgia Rheumatica OMIM:187360 polymyalgia rheumatica NCIT:C85018 -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric Dysplasia NCIT:C85187 Thanatophoric Dysplasia OMIM:187600 thanatophoric dysplasia NCIT:C85187 +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT NCIT:C84505 MONDO:0008555 thrombocytopenia 2 oio:hasExactSynonym oio:hasRelatedSynonym THC2 NCIT:C129035 Thrombocytopenia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188000, MONDO:Lexical THC2 NCIT:C129035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia Orphanet:3002 immune thrombocytopenia NCIT:C3446 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune Thrombocytopenic Purpura NCIT:C3446 Primary Immune Thrombocytopenia OMIM:188030 immune thrombocytopenic purpura NCIT:C3446 -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction Orphanet:3002 immune thrombocytopenia NCIT:C3991 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome Shprintzen syndrome Shprintzen Syndrome NCIT:C2989 22q11.2 Deletion Syndrome NCIT:C2989 Shprintzen syndrome NCIT:C2989 MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOP syndrome WITKOP syndrome Witkop Syndrome NCIT:C40553 Tooth and Nail Syndrome OMIM:189500 WITKOP syndrome NCIT:C40553 MONDO:0008583 inherited torticollis oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular torticollis congenital muscular torticollis Congenital Muscular Torticollis NCIT:C4811 Fibromatosis Colli GARD:0004908, MESH:C535425 congenital muscular torticollis NCIT:C4811 -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy OMIM:189800 toxemia of pregnancy NCIT:C34943 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 trisomy 21 Trisomy 21 NCIT:C2993 Down Syndrome OMIM:190685, Orphanet:870, NCIT:C2993 trisomy 21 NCIT:C2993 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome trisomy 21 syndrome Trisomy 21 Syndrome NCIT:C2993 Down Syndrome NCIT:C2993, DOID:14250 trisomy 21 syndrome NCIT:C2993 -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberous sclerosis Complex tuberous sclerosis Complex Tuberous Sclerosis Complex NCIT:C3424 Tuberous Sclerosis OMIM:191100 tuberous sclerosis Complex NCIT:C3424 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome OMIM:191900 MUCKLE-Wells syndrome NCIT:C119054 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS NCIT:C119054 Muckle-Wells Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS NCIT:C119054 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices varices Varices NCIT:C35114 Varicose Vein Wikipedia:Varices, DOID:799 varices NCIT:C35114 @@ -6991,7 +5723,6 @@ MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficien MONDO:0008736 peroxisome biogenesis disorder 2B oio:hasExactSynonym oio:hasRelatedSynonym PBD2B NCIT:C155751 Peroxisome Biogenesis Disorder 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:202370 PBD2B NCIT:C155751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasRelatedSynonym afibrinogenemia afibrinogenemia Afibrinogenemia NCIT:C98130 Afibrinogenemia GARD:0005761 afibrinogenemia NCIT:C98130 MONDO:0008748 Hermansky-Pudlak syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPS1 NCIT:C150367 Hermansky-Pudlak Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203300, MONDO:Lexical HPS1 NCIT:C150367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency MAT Deficiency NCIT:C123435 Methionine Adenosyltransferase Deficiency OMIM:203750 Mat deficiency NCIT:C123435 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria Alpha-Methylacetoacetic Aciduria NCIT:C98841 Alpha-Methylacetoacetic Aciduria OMIM:203750 ALPHA-methylacetoacetic aciduria NCIT:C98841 MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten Disease NCIT:C61258 Neuronal Ceroid Lipofuscinosis Type 3 OMIM:204200 batten disease NCIT:C61258 MONDO:0008769 neuronal ceroid lipofuscinosis 2 oio:hasExactSynonym oio:hasBroadSynonym late infantile neuronal ceroid lipofuscinosis late infantile neuronal ceroid lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 NCIT:C85864 late infantile neuronal ceroid lipofuscinosis NCIT:C85864 @@ -7005,7 +5736,6 @@ MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A NCIT:C176806 Immunodeficiency 27A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical IMD27A NCIT:C176806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS NCIT:C177251 Behr Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 BEHRS NCIT:C177251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger Disease NCIT:C35070 Buerger Disease OMIM:211480 BUERGER disease NCIT:C35070 -MONDO:0008903 lung cancer oio:hasExactSynonym oio:hasRelatedSynonym lung neoplasm lung neoplasm Lung Neoplasm NCIT:C3200 Lung Neoplasm DOID:1324 lung neoplasm NCIT:C3200 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-Acylcarnitine Translocase Deficiency NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency NCIT:C133086 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic primary carnitine deficiency systemic primary carnitine deficiency Systemic Primary Carnitine Deficiency NCIT:C98864 Primary Carnitine Deficiency Orphanet:158 systemic primary carnitine deficiency NCIT:C98864 MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-Lymphedema Syndrome NCIT:C35709 Aagenaes Syndrome OMIM:214900 cholestasis-lymphedema syndrome NCIT:C35709 @@ -7013,7 +5743,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphe MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHLS Chls CHLS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214900 CHLS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS1 NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 LCS1 NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia NCIT:C84639 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia NCIT:C84639 MONDO:0009005 complement component C1r/C1s deficiency oio:hasExactSynonym oio:hasRelatedSynonym C1r/C1s deficiency C1r/C1s deficiency C1r/C1s Deficiency NCIT:C119991 C1r/C1s Deficiency OMIM:216950 C1r/C1s deficiency NCIT:C119991 MONDO:0009006 complement component 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C2 deficiency C2 deficiency C2 Deficiency NCIT:C119992 C2 Deficiency OMIM:217000 C2 deficiency NCIT:C119992 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent Mineralocorticoid Excess NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency OMIM:218030 apparent mineralocorticoid EXCESS NCIT:C131083 @@ -7022,7 +5751,6 @@ MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTYS NCIT:C148371 Temtamy Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218340 TEMTYS NCIT:C148371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Cushing disease Cushing Disease NCIT:C113210 Cushing Disease GARD:0012867 Cushing disease NCIT:C113210 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing's disease Cushing's disease Cushing's Disease NCIT:C113210 Cushing Disease GARD:0012867 Cushing's disease NCIT:C113210 -MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Corticotropinoma NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor DOID:7004, NCIT:C7462 Corticotropinoma NCIT:C7462 MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Complex IV deficiency Complex IV deficiency Complex IV Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency GARD:0000048 Complex IV deficiency NCIT:C98910 MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym cytochrome C oxidase deficiency cytochrome C oxidase deficiency Cytochrome C Oxidase Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency OMIM:220110 cytochrome C oxidase deficiency NCIT:C98910 MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation Dandy-Walker malformation Dandy-Walker Malformation NCIT:C75012 Dandy-Walker Malformation OMIM:220200 Dandy-Walker malformation NCIT:C75012 @@ -7041,25 +5769,19 @@ MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AGS1 NCIT:C165501 Aicardi-Goutieres Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:225750 AGS1 NCIT:C165501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009176 epidermodysplasia verruciformis oio:hasExactSynonym oio:hasRelatedSynonym EV NCIT:C126877 Epidermodysplasia Verruciformis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:226400, MONDO:Lexical EV NCIT:C126877 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009197 transient erythroblastopenia of childhood oio:hasExactSynonym oio:hasRelatedSynonym TEC tec TEC NCIT:C131683 Transient Erythroblastopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227050, MONDO:Lexical TEC NCIT:C131683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009210 congenital factor V deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor V deficiency factor V deficiency Factor V Deficiency NCIT:C131738 Factor V Deficiency OMIM:227400 factor V deficiency NCIT:C131738 MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor VII deficiency factor VII deficiency Factor VII Deficiency NCIT:C131631 Factor VII Deficiency OMIM:227500 factor VII deficiency NCIT:C131631 -MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency factor X deficiency Factor X Deficiency NCIT:C131632 Factor X Deficiency OMIM:227600 factor X deficiency NCIT:C131632 MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym Stuart-Prower Factor deficiency Stuart-Prower Factor deficiency Stuart-Prower Factor Deficiency NCIT:C98940 Hereditary Factor X Deficiency OMIM:227600 Stuart-Prower Factor deficiency NCIT:C98940 MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group C Fanconi anemia, complementation group C Fanconi Anemia, Complementation Group C NCIT:C125704 Fanconi Anemia, Complementation Group C OMIM:227645, MONDO:Lexical Fanconi anemia, complementation group C NCIT:C125704 MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group D2 Fanconi anemia, complementation group D2 Fanconi Anemia, Complementation Group D2 NCIT:C125706 Fanconi Anemia, Complementation Group D2 MONDO:Lexical, OMIM:227646 Fanconi anemia, complementation group D2 NCIT:C125706 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A Fanconi Anemia, Complementation Group A NCIT:C125702 Fanconi Anemia, Complementation Group A OMIM:227650, MONDO:Lexical Fanconi anemia, complementation group A NCIT:C125702 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia NCIT:C62505 Fanconi Anemia OMIM:227650 Fanconi Anemia NCIT:C62505 MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK Deficiency NCIT:C114767 Galactokinase Deficiency OMIM:230200 Galk deficiency NCIT:C114767 MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C84725 eventration NCIT:C84725 -MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C84725 eventration NCIT:C98997 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency Platelet Glycoprotein Ib Deficiency NCIT:C84595 Bernard-Soulier Syndrome OMIM:231200 Platelet glycoprotein Ib deficiency NCIT:C84595 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym GLC3A NCIT:C148260 Primary Congenital Glaucoma 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231300, MONDO:Lexical GLC3A NCIT:C148260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym Pfkm deficiency Pfkm deficiency PFKM Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 Pfkm deficiency NCIT:C118437 MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym muscle phosphofructokinase deficiency muscle phosphofructokinase deficiency Muscle Phosphofructokinase Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 muscle phosphofructokinase deficiency NCIT:C118437 MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym GSD7 NCIT:C118437 Glycogen Storage Disease Type VII http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:232800 GSD7 NCIT:C118437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-Glomerular Basement Membrane Antibody Disease NCIT:C35798 Anti-Basement Membrane Glomerulonephritis GARD:0002551 anti-glomerular basement membrane antibody disease NCIT:C35798 MONDO:0009315 congenital factor XII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XII deficiency factor XII deficiency Factor XII Deficiency NCIT:C131740 Factor XII Deficiency OMIM:234000 factor XII deficiency NCIT:C131740 -MONDO:0009324 Hartnup disease oio:hasExactSynonym oio:hasRelatedSynonym HND NCIT:C40553 Tooth and Nail Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:234500 HND NCIT:C40553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Chl Chl cHL NCIT:C7164 Classic Hodgkin Lymphoma OMIM:236000, MONDO:Lexical Chl NCIT:C7164 MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym CHL Chl CHL NCIT:C7164 Classic Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236000, MONDO:Lexical CHL NCIT:C7164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym homocystinuria-megaloblastic anemia, cblE complementation type homocystinuria-megaloblastic anemia, cblE complementation type Homocystinuria-Megaloblastic Anemia, cblE Complementation Type NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type OMIM:236270, MONDO:Lexical homocystinuria-megaloblastic anemia, cblE complementation type NCIT:C142173 @@ -7081,14 +5803,11 @@ MONDO:0009436 congenital hypothalamic hamartoma syndrome oio:hasExactSynonym oio MONDO:0009452 Vici syndrome oio:hasExactSynonym oio:hasRelatedSynonym VICIS NCIT:C138174 Vici Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:242840, MONDO:Lexical VICIS NCIT:C138174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke IMMUNOOSSEOUS dysplasia Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 Schimke IMMUNOOSSEOUS dysplasia NCIT:C135087 MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke Immunoosseous dysplasia Schimke Immunoosseous dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 Schimke Immunoosseous dysplasia NCIT:C135087 -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 DOCK8 deficiency NCIT:C126343 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive hyper IgE syndrome autosomal recessive hyper IgE syndrome Autosomal Recessive hyper IgE syndrome NCIT:C126343 DOCK8 Deficiency GARD:0002816 autosomal recessive hyper IgE syndrome NCIT:C126343 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome Kartagener syndrome Kartagener Syndrome NCIT:C84797 Kartagener Syndrome OMIM:244400 Kartagener syndrome NCIT:C84797 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PAPILLON-Lefevre syndrome PAPILLON-Lefevre syndrome Papillon-Lefevre Syndrome NCIT:C84992 Papillon-Lefevre Syndrome MONDO:Lexical, OMIM:245000 PAPILLON-Lefevre syndrome NCIT:C84992 MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide Beta-Galactosidase Deficiency NCIT:C61254 Krabbe Disease OMIM:245200 galactosylceramide Beta-galactosidase deficiency NCIT:C61254 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome OMIM:245800 Laurence-MOON syndrome NCIT:C118632 -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl Syndrome NCIT:C118632 Bardet-Biedl Syndrome DOID:1930 Laurence-Moon-Biedl syndrome NCIT:C118632 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome OMIM:245800 Laurence-MOON syndrome NCIT:C34760 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency OMIM:246450 HMG-Coa lyase deficiency NCIT:C84523 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 3 split-hand/foot malformation 3 Split-Hand/Foot Malformation 3 NCIT:C75121 Split-Hand/Foot Malformation Type 3 OMIM:246560, MONDO:Lexical split-hand/foot malformation 3 NCIT:C75121 @@ -7110,8 +5829,6 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelat MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile Spinal Muscular Atrophy NCIT:C118847 Spinal Muscular Atrophy Type 3 Orphanet:83419 juvenile spinal muscular atrophy NCIT:C118847 MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Miyoshi Muscular Dystrophy 1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 NCIT:C118846 MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 NCIT:C118846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis myelofibrosis Myelofibrosis NCIT:C3248 Myelofibrosis OMIM:254450 myelofibrosis NCIT:C3248 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL Amyloidosis NCIT:C158963 AL Amyloidosis OMIM:254500 Al amyloidosis NCIT:C158963 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym minicore myopathy with external ophthalmoplegia minicore myopathy with external ophthalmoplegia Minicore Myopathy with External Ophthalmoplegia NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia OMIM:255320 minicore myopathy with external ophthalmoplegia NCIT:C150608 MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 NCIT:C74998 Nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 NPH1 NCIT:C74998 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym oio:hasRelatedSynonym diffuse mesangial sclerosis diffuse mesangial sclerosis Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis GARD:0003547 diffuse mesangial sclerosis NCIT:C121198 @@ -7120,18 +5837,13 @@ MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym neuram MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym Santavuori disease Santavuori disease Santavuori Disease NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 OMIM:256730 Santavuori disease NCIT:C85861 MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym infantile neuronal ceroid lipofuscinosis infantile neuronal ceroid lipofuscinosis Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 NCIT:C85861 infantile neuronal ceroid lipofuscinosis NCIT:C85861 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 CIPA NCIT:C118633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C161542 Neuroaxonal Dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical NAD NCIT:C161542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C3694 Dysplastic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical NAD NCIT:C3694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type A Niemann-PICK disease, type A Niemann-Pick Disease, Type A NCIT:C126561 Niemann-Pick Disease, Type A OMIM:257200 Niemann-PICK disease, type A NCIT:C126561 MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C1 Niemann-PICK disease, type C1 Niemann-Pick Disease, Type C1 NCIT:C126864 Niemann-Pick Disease, Type C1 OMIM:257220 Niemann-PICK disease, type C1 NCIT:C126864 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria Orphanet:30 hereditary orotic aciduria NCIT:C98944 -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSynonym oio:hasRelatedSynonym Torg-Winchester syndrome Torg-Winchester syndrome Torg-Winchester Syndrome NCIT:C170731 Winchester Syndrome OMIM:259600 Torg-Winchester syndrome NCIT:C170731 MONDO:0009820 osteoporosis-pseudoglioma syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis pseudoglioma syndrome osteoporosis pseudoglioma syndrome Osteoporosis Pseudoglioma Syndrome NCIT:C130998 Osteoporosis Pseudoglioma Syndrome GARD:0004160 osteoporosis pseudoglioma syndrome NCIT:C130998 -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm pancreas neoplasm Pancreas Neoplasm NCIT:C3305 Pancreatic Neoplasm DOID:1793 pancreas neoplasm NCIT:C3305 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of Choroid Plexus NCIT:C3698 Choroid Plexus Papilloma OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus NCIT:C3698 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma, choroid plexus, benign papilloma, choroid plexus, benign PAPILLOMA, CHOROID PLEXUS, BENIGN NCIT:C3698 Choroid Plexus Papilloma NCIT:C3698 papilloma, choroid plexus, benign NCIT:C3698 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 choroid plexus carcinoma NCIT:C4715 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 choroid plexus carcinoma NCIT:C4715 MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym oio:hasRelatedSynonym hernia uteri inguinale hernia uteri inguinale Hernia Uteri Inguinale NCIT:C120188 Persistent Mullerian Duct Syndrome OMIM:261550 hernia uteri inguinale NCIT:C120188 MONDO:0009862 dihydropteridine reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HPABH4C NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261630, MONDO:Lexical HPABH4C NCIT:C138173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Phosphoglycerate mutase deficiency Phosphoglycerate mutase deficiency Phosphoglycerate Mutase Deficiency NCIT:C131647 Phosphoglycerate Mutase Deficiency GARD:0009964 Phosphoglycerate mutase deficiency NCIT:C131647 @@ -7139,7 +5851,6 @@ MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence Pierre Robin sequence Pierre Robin Sequence NCIT:C85010 Pierre Robin Syndrome OMIM:261800, MESH:D010855 Pierre Robin sequence NCIT:C85010 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome Pierre Robin syndrome Pierre Robin Syndrome NCIT:C85010 Pierre Robin Syndrome MONDO:Lexical, OMIM:261800 Pierre Robin syndrome NCIT:C85010 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Robin sequence Robin sequence Robin Sequence NCIT:C85010 Pierre Robin Syndrome MESH:D010855 Robin sequence NCIT:C85010 -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth Hormone Insensitivity Syndrome NCIT:C129867 Growth Hormone Insensitivity Syndrome OMIM:262500 growth hormone insensitivity syndrome NCIT:C129867 MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym DIP NCIT:C35288 Desquamative Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:263000 DIP NCIT:C35288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BPS NCIT:C168990 Bartsocas-Papas Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004436 BPS NCIT:C168990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP NCIT:C84697 Erythropoietic Porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 CEP NCIT:C84697 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7149,8 +5860,6 @@ MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynon MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly-polydactyly syndrome holoprosencephaly-polydactyly syndrome Holoprosencephaly-Polydactyly Syndrome NCIT:C125418 Pseudotrisomy 13 Syndrome OMIM:264480 holoprosencephaly-polydactyly syndrome NCIT:C125418 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum NCIT:C85036 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary Atresia with Intact Ventricular Septum NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum OMIM:265150 pulmonary atresia with intact ventricular septum NCIT:C99032 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal circulation persistent fetal circulation Persistent Fetal Circulation NCIT:C85006 Persistent Fetal Circulation ICD9CM:747.83, DOID:13042 persistent fetal circulation NCIT:C85006 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent pulmonary hypertension of the newborn persistent pulmonary hypertension of the newborn Persistent Pulmonary Hypertension of the Newborn NCIT:C85006 Persistent Fetal Circulation DOID:13042 persistent pulmonary hypertension of the newborn NCIT:C85006 MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym oio:hasRelatedSynonym hereditary pyropoikilocytosis hereditary pyropoikilocytosis Hereditary Pyropoikilocytosis NCIT:C98943 Hereditary Pyropoikilocytosis GARD:0004619 hereditary pyropoikilocytosis NCIT:C98943 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate Carboxylase Deficiency NCIT:C85040 Pyruvate Carboxylase Deficiency OMIM:266150 pyruvate carboxylase deficiency NCIT:C85040 MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym pyruvate kinase deficiency pyruvate kinase deficiency Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency GARD:0007514 pyruvate kinase deficiency NCIT:C99037 @@ -7165,25 +5874,16 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy D MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant GM2-Gangliosidosis, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 GM2-gangliosidosis, AB variant NCIT:C133084 MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym Tay-Sachs disease, AB variant Tay-Sachs disease, AB variant Tay-Sachs Disease, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 Tay-Sachs disease, AB variant NCIT:C133084 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease OMIM:272800 TAY-Sachs disease NCIT:C85184 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 endodermal sinus tumor NCIT:C3011 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 endodermal sinus tumor NCIT:C3011 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 spermatocytic seminoma NCIT:C39921 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic Seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 spermatocytic seminoma NCIT:C39921 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer testicular germ cell cancer Testicular Germ Cell Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor DOID:5557 testicular germ cell cancer NCIT:C9063 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma OMIM:273300 seminoma NCIT:C9309 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR Syndrome NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 Tar syndrome NCIT:C99038 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 1Q21.1 deletion syndrome, 200-Kb chromosome 1Q21.1 deletion syndrome, 200-Kb Chromosome 1q21.1 Deletion Syndrome, 200-Kb NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 chromosome 1Q21.1 deletion syndrome, 200-Kb NCIT:C99038 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAR NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274000 TAR NCIT:C99038 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DPD deficiency DPD deficiency DPD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 DPD deficiency NCIT:C84672 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency DPYD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 Dpyd deficiency NCIT:C84672 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance thyroid hormone resistance Thyroid Hormone Resistance NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 thyroid hormone resistance NCIT:C85191 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance syndrome thyroid hormone resistance syndrome Thyroid Hormone Resistance Syndrome NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 thyroid hormone resistance syndrome NCIT:C85191 MONDO:0010132 familial thyroid dyshormonogenesis oio:hasExactSynonym oio:hasBroadSynonym dyshormonogenesis dyshormonogenesis Dyshormonogenesis NCIT:C121751 Thyroid Dyshormonogenesis NCIT:C121751 dyshormonogenesis NCIT:C121751 MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency thyroid peroxidase deficiency Thyroid Peroxidase Deficiency NCIT:C121750 Thyroid Peroxidase Deficiency OMIM:274500 thyroid peroxidase deficiency NCIT:C121750 -MONDO:0010134 Pendred syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDS NCIT:C5576 Skin Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:274600, MONDO:Lexical PDS NCIT:C5576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism hypothalamic hypothyroidism Hypothalamic Hypothyroidism NCIT:C121741 Hypothalamic Hypothyroidism OMIM:275120 hypothalamic hypothyroidism NCIT:C121741 -MONDO:0010150 head and neck squamous cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the head and neck carcinoma of the head and neck Carcinoma of the Head and Neck NCIT:C35850 Head and Neck Carcinoma NCIT:C35850, DOID:5520 carcinoma of the head and neck NCIT:C35850 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral aplasia of the vas deferens congenital bilateral aplasia of the vas deferens Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 congenital bilateral aplasia of the vas deferens NCIT:C129303 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD NCIT:C129303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic aciduria and homocystinuria, cblC type methylmalonic aciduria and homocystinuria, cblC type Methylmalonic Aciduria and Homocystinuria, cblC Type NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type OMIM:277400 methylmalonic aciduria and homocystinuria, cblC type NCIT:C142174 @@ -7202,8 +5902,6 @@ MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSy MONDO:0010215 xeroderma pigmentosum group F oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group F xeroderma pigmentosum, complementation group F Xeroderma Pigmentosum, Complementation Group F NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F OMIM:278760, MONDO:Lexical xeroderma pigmentosum, complementation group F NCIT:C3968 MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group G xeroderma pigmentosum, complementation group G Xeroderma Pigmentosum, Complementation Group G NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G OMIM:278780, MONDO:Lexical xeroderma pigmentosum, complementation group G NCIT:C3969 MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 adrenal hypoplasia congenita NCIT:C123725 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia NCIT:C123725 adrenal hypoplasia congenita NCIT:C35261 -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC NCIT:C35261 Congenital Adrenal Gland Hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC NCIT:C35261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome OMIM:300260 MECP2 Duplication syndrome NCIT:C126747 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency X-linked creatine transporter deficiency X-Linked Creatine Transporter Deficiency NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 Orphanet:52503 X-linked creatine transporter deficiency NCIT:C125665 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym CCDS1 NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300352 CCDS1 NCIT:C125665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7234,12 +5932,8 @@ MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets X-linked hypophosphatemic rickets X-linked Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets Orphanet:89936 X-linked hypophosphatemic rickets NCIT:C85234 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets OMIM:307800 hypophosphatemic vitamin D-resistant rickets NCIT:C85234 MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, X-linked ichthyosis, X-linked Ichthyosis, X-linked NCIT:C84779 X-Linked Ichthyosis OMIM:308100, MONDO:Lexical ichthyosis, X-linked NCIT:C84779 -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome hyper IgM syndrome Hyper IgM Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome GARD:0000073 hyper IgM syndrome NCIT:C3990 MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency CD40 ligand deficiency CD40 Ligand Deficiency NCIT:C61244 CD40 Ligand Deficiency NCIT:C61244 CD40 ligand deficiency NCIT:C61244 -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS NCIT:C124837 Kabuki Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 KMS NCIT:C124837 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 1 Kallmann syndrome 1 Kallmann Syndrome 1 NCIT:C75480 Kallmann Syndrome 1 OMIM:308700 Kallmann syndrome 1 NCIT:C75480 -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem Cell Leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 stem cell leukemia NCIT:C9298 -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 stem cell leukemia NCIT:C9298 MONDO:0010653 Renpenning syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Renpenning type mental retardation, X-linked, Renpenning type Mental Retardation, X-Linked, Renpenning Type NCIT:C165533 Renpenning Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309500 mental retardation, X-linked, Renpenning type NCIT:C165533 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 myotubular myopathy 1 Myotubular Myopathy 1 NCIT:C118781 X-Linked Centronuclear Myopathy OMIM:310400 myotubular myopathy 1 NCIT:C118781 MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX NCIT:C118781 X-Linked Centronuclear Myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 CNMX NCIT:C118781 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7254,8 +5948,6 @@ MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic MONDO:0010795 oncocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm NCIT:C7072 oncocytoma NCIT:C7072 MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal Familial Insomnia NCIT:C84711 Fatal Familial Insomnia OMIM:600072 fatal familial INSOMNIA NCIT:C84711 MONDO:0010811 benign prostatic hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym BPH NCIT:C2897 Benign Prostatic Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600082, MONDO:Lexical BPH NCIT:C2897 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia NCIT:C118455 Sirenomelia OMIM:600145 sirenomelia NCIT:C118455 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia SIRENOMELIA NCIT:C118455 Sirenomelia OMIM:600145 sirenomelia NCIT:C118455 MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis OMIM:600145 caudal regression syndrome NCIT:C99054 MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sacral agenesis sacral agenesis Sacral Agenesis NCIT:C99054 Sacral Agenesis OMIM:600145 sacral agenesis NCIT:C99054 MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q37 deletion syndrome chromosome 2q37 deletion syndrome Chromosome 2q37 Deletion Syndrome NCIT:C129021 Chromosome 2q37 Deletion Syndrome OMIM:600430 chromosome 2q37 deletion syndrome NCIT:C129021 @@ -7266,11 +5958,6 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 NCIT:C142894 Long QT Syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 NCIT:C142894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB NCIT:C5669 Pleuropulmonary Blastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601200 PPB NCIT:C5669 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011055 distal monosomy 10p oio:hasExactSynonym oio:hasRelatedSynonym DGS2 Dgs2 DGS2 NCIT:C130982 10p13-p14 Deletion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601362 DGS2 NCIT:C130982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke OMIM:601367 cerebral infarction NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrovascular accident cerebrovascular accident Cerebrovascular Accident NCIT:C3390 Stroke DOID:6713 cerebrovascular accident NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke stroke Stroke NCIT:C3390 Stroke DOID:6713 stroke NCIT:C3390 -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA NCIT:C3390 Stroke http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 CVA NCIT:C3390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction OMIM:601367 cerebral infarction NCIT:C50486 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase Deficiency NCIT:C129073 Mucopolysaccharidosis Type IX OMIM:601492 hyaluronidase deficiency NCIT:C129073 MONDO:0011094 dilated cardiomyopathy 1C oio:hasExactSynonym oio:hasRelatedSynonym CMD1C NCIT:C170436 Dilated Cardiomyopathy-1C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601493, MONDO:Lexical CMD1C NCIT:C170436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym oio:hasRelatedSynonym PBD1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601539 PBD1B NCIT:C155749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7278,8 +5965,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio: MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym infantile convulsions and paroxysmal choreoathetosis, familial infantile convulsions and paroxysmal choreoathetosis, familial Infantile Convulsions and Paroxysmal Choreoathetosis, Familial NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 infantile convulsions and paroxysmal choreoathetosis, familial NCIT:C126650 MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions paroxysmal kinesigenic dyskinesia with infantile convulsions Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 paroxysmal kinesigenic dyskinesia with infantile convulsions NCIT:C126650 MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C126650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA ICCA iCCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C35417 -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 ICCA NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 2 dystrophia myotonica 2 Dystrophia Myotonica 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668 dystrophia myotonica 2 NCIT:C84680 MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 2 myotonic dystrophy 2 Myotonic Dystrophy 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668, MONDO:Lexical myotonic dystrophy 2 NCIT:C84680 MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 NCIT:C84680 Dystrophia Myotonica 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical DM2 NCIT:C84680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7289,11 +5974,7 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym oio:hasRelate MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group F Fanconi anemia, complementation group F Fanconi Anemia, Complementation Group F NCIT:C125707 Fanconi Anemia, Complementation Group F OMIM:603467, MONDO:Lexical Fanconi anemia, complementation group F NCIT:C125707 MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym NIID Niid NIID NCIT:C122655 Neuronal Intranuclear Inclusion Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603472 NIID NCIT:C122655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity type 2 spondyloepimetaphyseal dysplasia with JOINT laxity type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 OMIM:603546, MONDO:Lexical spondyloepimetaphyseal dysplasia with JOINT laxity type 2 NCIT:C125419 -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym ovarian germ cell cancer ovarian germ cell cancer Ovarian Germ Cell Cancer NCIT:C4514 Malignant Ovarian Germ Cell Tumor OMIM:603737 ovarian germ cell cancer NCIT:C4514 -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym lumbar disc degeneration lumbar disc degeneration Lumbar Disc Degeneration NCIT:C27154 Lumbar Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 lumbar disc degeneration NCIT:C27154 -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym cervical disc degenerative disease cervical disc degenerative disease Cervical Disc Degenerative Disease NCIT:C27156 Cervical Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 cervical disc degenerative disease NCIT:C27156 MONDO:0011405 poikiloderma with neutropenia oio:hasExactSynonym oio:hasRelatedSynonym PN NCIT:C177535 Poikiloderma with Neutropenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604173 PN NCIT:C177535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis juvenile chronic polyarthritis Juvenile Chronic Polyarthritis NCIT:C26979 Juvenile Chronic Polyarthritis DOID:676 juvenile chronic polyarthritis NCIT:C26979 MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 11 spastic paraplegia 11 Spastic Paraplegia 11 NCIT:C148317 Spastic Paraplegia 11 GARD:0004919 spastic paraplegia 11 NCIT:C148317 MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum NCIT:C148317 Spastic Paraplegia 11 OMIM:604360 spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum NCIT:C148317 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne pyogenic arthritis, pyoderma gangrenosum and acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne GARD:0009176 pyogenic arthritis, pyoderma gangrenosum and acne NCIT:C119055 @@ -7303,11 +5984,10 @@ MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:ha MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine Encephalopathy NCIT:C84937 Glycine Encephalopathy OMIM:605899 GLYCINE encephalopathy NCIT:C84937 MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 21 amyotrophic lateral sclerosis 21 Amyotrophic Lateral Sclerosis 21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 MONDO:Lexical, OMIM:606070 amyotrophic lateral sclerosis 21 NCIT:C168755 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 Deletion Syndrome NCIT:C157124 Phelan-McDermid Syndrome OMIM:606232 chromosome 22Q13.3 deletion syndrome NCIT:C157124 -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C3750 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma NCIT:C7943 MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasRelatedSynonym LAM NCIT:C3725 Lymphangioleiomyomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:538, OMIM:606690 LAM NCIT:C3725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasNarrowSynonym lung lymphangioleiomyomatosis lung lymphangioleiomyomatosis Lung Lymphangioleiomyomatosis NCIT:C38153 Lung Lymphangioleiomyomatosis DOID:3319 lung lymphangioleiomyomatosis NCIT:C38153 MONDO:0011709 split hand-foot malformation 5 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 5 split-hand/foot malformation 5 Split-Hand/Foot Malformation 5 NCIT:C75002 Split-Hand/Foot Malformation Type 5 MONDO:Lexical, OMIM:606708 split-hand/foot malformation 5 NCIT:C75002 MONDO:0011713 melanoma-pancreatic cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome OMIM:606719 familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 MONDO:0011732 familial digital arthropathy-brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym FDAB NCIT:C175208 Familial Digital Arthropathy-Brachydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606835 FDAB NCIT:C175208 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7315,39 +5995,22 @@ MONDO:0011738 bilateral frontoparietal polymicrogyria oio:hasExactSynonym oio:ha MONDO:0011743 Alzheimer disease 4 oio:hasExactSynonym oio:hasRelatedSynonym AD4 Ad4 AD4 NCIT:C123413 Alzheimer's Disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606889 AD4 NCIT:C123413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011776 CINCA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CINCA NCIT:C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607115 CINCA NCIT:C116380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011784 Moyamoya disease 2 oio:hasExactSynonym oio:hasRelatedSynonym MYMY2 NCIT:C183312 Moyamoya Disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607151, MONDO:Lexical MYMY2 NCIT:C183312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis seasonal allergic rhinitis Seasonal Allergic Rhinitis NCIT:C92188 Seasonal Allergic Rhinitis DOID:4481 seasonal allergic rhinitis NCIT:C92188 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 non-seasonal allergic rhinitis NCIT:C92189 -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 perennial allergic rhinitis NCIT:C92189 MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-Girdle Muscular Dystrophy Type 2I NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 GARD:0012533 limb-girdle muscular dystrophy type 2I NCIT:C126739 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma OMIM:genemap2, OMIM:607174 meningioma NCIT:C3230 -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma OMIM:genemap2, OMIM:607174 meningioma NCIT:C8264 MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym GCCD2 NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607398 GCCD2 NCIT:C123728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy psoriatic arthropathy Psoriatic Arthropathy NCIT:C61277 Psoriatic Arthritis DOID:9008 psoriatic arthropathy NCIT:C61277 MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B Niemann-Pick Disease, Type B NCIT:C126866 Niemann-Pick Disease, Type B OMIM:607616 Niemann-PICK disease, type B NCIT:C126866 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID Syndrome NCIT:C111814 Griscelli Syndrome Type 2 OMIM:607624 Paid syndrome NCIT:C111814 MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C2 Niemann-PICK disease, type C2 Niemann-Pick Disease, Type C2 NCIT:C126865 Niemann-Pick Disease, Type C2 OMIM:607625 Niemann-PICK disease, type C2 NCIT:C126865 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym TINU NCIT:C123021 Tubulointerstitial Nephritis and Uveitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607665 TINU NCIT:C123021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 NCIT:C176939 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH1 NCIT:C176939 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic Myelomonocytic Leukemia NCIT:C3178 Chronic Myelomonocytic Leukemia NCIT:C9233 chronic myelomonocytic leukemia NCIT:C3178 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym endometrial neoplasm endometrial neoplasm Endometrial Neoplasm NCIT:C3012 Endometrial Neoplasm DOID:1380 endometrial neoplasm NCIT:C3012 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of endometrium neoplasm of endometrium Neoplasm of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380 neoplasm of endometrium NCIT:C3012 -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of endometrium tumor of endometrium Tumor of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380, NCIT:C3012 tumor of endometrium NCIT:C3012 MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 39 deafness, autosomal recessive 39 Deafness, Autosomal Recessive 39 NCIT:C129874 Deafness, Autosomal Recessive 39 MONDO:Lexical, OMIM:608265, OMIM:genemap2 deafness, autosomal recessive 39 NCIT:C129874 MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym DFNB39 NCIT:C129874 Deafness, Autosomal Recessive 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110497, MONDO:Lexical, OMIM:608265 DFNB39 NCIT:C129874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland neoplasm parathyroid gland neoplasm Parathyroid Gland Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540, NCIT:C3313 parathyroid gland neoplasm NCIT:C3313 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid neoplasm parathyroid neoplasm Parathyroid Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540 parathyroid neoplasm NCIT:C3313 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 cancer of parathyroid gland NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the parathyroid gland cancer of the parathyroid gland Cancer of the Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 cancer of the parathyroid gland NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 parathyroid cancer NCIT:C4906 MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma DOID:1540, NCIT:C4906 parathyroid gland cancer NCIT:C4906 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm ICD9CM:194.1, DOID:1540 malignant neoplasm of parathyroid gland NCIT:C9322 -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm NCIT:C9322, DOID:1540 malignant neoplasm of the parathyroid NCIT:C9322 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary Malformation-Arteriovenous Malformation NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation NCIT:C179668 MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym oio:hasRelatedSynonym MYH-associated polyposis MYH-associated polyposis MYH-Associated Polyposis NCIT:C96520 MUTYH-Associated Polyposis GARD:0010805 MYH-associated polyposis NCIT:C96520 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder major depressive disorder Major Depressive Disorder NCIT:C35094 Unipolar Depression MONDO:Lexical, OMIM:608516 major depressive disorder NCIT:C35094 -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression unipolar depression Unipolar Depression NCIT:C35094 Unipolar Depression OMIM:608516, DOID:1595 unipolar depression NCIT:C35094 MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 15q11-q13 DUPLICATION syndrome chromosome 15q11-q13 DUPLICATION syndrome Chromosome 15q11-q13 Duplication Syndrome NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome OMIM:608636 chromosome 15q11-q13 DUPLICATION syndrome NCIT:C126692 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Aadc deficiency Aadc deficiency AADC Deficiency NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency OMIM:608643 Aadc deficiency NCIT:C142085 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial Trifunctional Protein Deficiency NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency NCIT:C98991 @@ -7356,11 +6019,9 @@ MONDO:0012186 Fanconi anemia complementation group I oio:hasExactSynonym oio:has MONDO:0012187 Fanconi anemia complementation group J oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group J Fanconi anemia, complementation group J Fanconi Anemia, Complementation Group J NCIT:C129027 Fanconi Anemia, Complementation Group J OMIM:609054, MONDO:Lexical Fanconi anemia, complementation group J NCIT:C129027 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 1 Combined Oxidative Phosphorylation Deficiency 1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 OMIM:609060, MONDO:Lexical combined oxidative phosphorylation deficiency 1 NCIT:C125663 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym COXPD1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609060, MONDO:Lexical COXPD1 NCIT:C125663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012197 idiopathic aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym aplastic anemia aplastic anemia Aplastic Anemia NCIT:C2870 Aplastic Anemia OMIM:609135 aplastic anemia NCIT:C2870 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 oio:hasExactSynonym oio:hasRelatedSynonym CMT2A2A NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609260 CMT2A2A NCIT:C150646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2K limb-girdle muscular dystrophy type 2K Limb-Girdle Muscular Dystrophy Type 2K NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 GARD:0012535 limb-girdle muscular dystrophy type 2K NCIT:C133730 MONDO:0012249 Lynch syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HNPCC2 NCIT:C6726 Lynch 2 Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609310, MONDO:Lexical HNPCC2 NCIT:C6726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AT/RT At/RT AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609322 AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012268 AIDS oio:hasExactSynonym oio:hasRelatedSynonym acquired immunodeficiency syndrome acquired immunodeficiency syndrome Acquired Immunodeficiency Syndrome NCIT:C2851 Acquired Immunodeficiency Syndrome DOID:635 acquired immunodeficiency syndrome NCIT:C2851 MONDO:0012308 Joubert syndrome with renal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 4 Joubert syndrome 4 Joubert Syndrome 4 NCIT:C74997 Joubert Syndrome 4 GARD:0010169, OMIM:609583, MONDO:Lexical Joubert syndrome 4 NCIT:C74997 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed Syndrome NCIT:C119058 Majeed Syndrome OMIM:609628 MAJEED syndrome NCIT:C119058 @@ -7383,11 +6044,9 @@ MONDO:0012727 mucocutaneous lymph node syndrome oio:hasExactSynonym oio:hasRelat MONDO:0012734 SERKAL syndrome oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs NCIT:C123726 SERKAL Syndrome OMIM:611812, MONDO:Lexical 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs NCIT:C123726 MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p11.2 deletion syndrome chromosome 16p11.2 deletion syndrome Chromosome 16p11.2 Deletion Syndrome NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome GARD:0010740 chromosome 16p11.2 deletion syndrome NCIT:C120408 MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 oio:hasExactSynonym oio:hasRelatedSynonym CPVT2 NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611938, MONDO:Lexical CPVT2 NCIT:C148368 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor OMIM:612219, OMIM:genemap2 neuroepithelioma NCIT:C3716 MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym Ewing tumor NCIT:C4817 Ewing Sarcoma GARD:0006390 Ewing tumor NCIT:C4817 MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym EMC NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612237 EMC NCIT:C27502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome oio:hasExactSynonym oio:hasRelatedSynonym CAN can CAN NCIT:C38145 Chronic Allograft Nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612247 CAN NCIT:C38145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XI deficiency factor XI deficiency Factor XI Deficiency NCIT:C131739 Factor XI Deficiency OMIM:612416 factor XI deficiency NCIT:C131739 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym Albright hereditary osteodystrophy without multiple hormone resistance Albright hereditary osteodystrophy without multiple hormone resistance Albright Hereditary Osteodystrophy without Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance OMIM:612463 Albright hereditary osteodystrophy without multiple hormone resistance NCIT:C129722 MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym PPHP NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612463 PPHP NCIT:C129722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wagro syndrome Wagro syndrome WAGRO Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome OMIM:612469 Wagro syndrome NCIT:C122804 @@ -7426,9 +6085,7 @@ MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:ha MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical MCAHS1 NCIT:C176896 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013565 Fanconi anemia complementation group G oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group G Fanconi anemia, complementation group G Fanconi Anemia, Complementation Group G NCIT:C125708 Fanconi Anemia, Complementation Group G OMIM:614082, MONDO:Lexical Fanconi anemia, complementation group G NCIT:C125708 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 2 MOSAIC variegated aneuploidy syndrome 2 Mosaic Variegated Aneuploidy Syndrome 2 NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 OMIM:614114 MOSAIC variegated aneuploidy syndrome 2 NCIT:C168989 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis NCIT:C34888 Palmoplantar Pustulosis OMIM:614204 palmoplantar pustulosis NCIT:C34888 MONDO:0013656 intellectual disability, autosomal dominant 9 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 9 mental retardation, autosomal dominant 9 Mental Retardation, Autosomal Dominant 9 NCIT:C133742 Mental Retardation, Autosomal Dominant 9 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:614255, MONDO:Lexical mental retardation, autosomal dominant 9 NCIT:C133742 -MONDO:0013662 Barrett esophagus oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of esophagus adenocarcinoma of esophagus Adenocarcinoma of Esophagus NCIT:C4025 Esophageal Adenocarcinoma OMIM:614266 adenocarcinoma of esophagus NCIT:C4025 MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic lipase deficiency pancreatic lipase deficiency Pancreatic Lipase Deficiency NCIT:C129030 Pancreatic Lipase Deficiency MONDO:Lexical, OMIM:614338 pancreatic lipase deficiency NCIT:C129030 MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym PNLIPD NCIT:C129030 Pancreatic Lipase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614338, MONDO:Lexical PNLIPD NCIT:C129030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013779 Wiskott-Aldrich syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym WAS2 NCIT:C176820 Wiskott-Aldrich Syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614493, MONDO:Lexical WAS2 NCIT:C176820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7474,13 +6131,10 @@ MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXYY sy MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal Neuroendocrine Tumor NCIT:C135090 Jejunal Neuroendocrine Tumor Orphanet:100077 jejunal neuroendocrine tumor NCIT:C135090 MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal Neuroendocrine Tumor NCIT:C135092 Ileal Neuroendocrine Tumor Orphanet:100078 ileal neuroendocrine tumor NCIT:C135092 MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor NCIT:C135212 colon neuroendocrine tumor NCIT:C135212 -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym neuroendocrine neoplasm of the colon neuroendocrine neoplasm of the colon Neuroendocrine Neoplasm of the Colon NCIT:C5697 Colon Neuroendocrine Neoplasm Orphanet:100080 neuroendocrine neoplasm of the colon NCIT:C5697 -MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasBroadSynonym anal canal neuroendocrine neoplasm anal canal neuroendocrine neoplasm Anal Canal Neuroendocrine Neoplasm NCIT:C5603 Anal Canal Neuroendocrine Neoplasm MONDO:patterns/location anal canal neuroendocrine neoplasm NCIT:C5603 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the thyroid cancer of the thyroid Cancer of the Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 cancer of the thyroid NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of thyroid cancer of thyroid Cancer of Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 cancer of thyroid NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer thyroid cancer Thyroid Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 thyroid cancer NCIT:C4815 MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 thyroid gland cancer NCIT:C4815 -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym oio:hasNarrowSynonym autoimmune primary adrenal insufficiency autoimmune primary adrenal insufficiency Autoimmune Primary Adrenal Insufficiency NCIT:C113814 Autoimmune Primary Adrenal Insufficiency NCIT:C113814 autoimmune primary adrenal insufficiency NCIT:C113814 MONDO:0015286 congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorders of glycosylation congenital disorders of glycosylation Congenital Disorders of Glycosylation NCIT:C84615 Carbohydrate-Deficient Glycoprotein Syndrome GARD:0010307 congenital disorders of glycosylation NCIT:C84615 MONDO:0015439 ring chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym R4 NCIT:C121983 ROSE Cluster 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001339 R4 NCIT:C121983 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015440 ring chromosome 6 oio:hasExactSynonym oio:hasRelatedSynonym R6 NCIT:C121985 ROSE Cluster 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006095 R6 NCIT:C121985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7490,18 +6144,14 @@ MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasopharynx cancer of the nasopharynx Cancer of the Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 cancer of the nasopharynx NCIT:C3871 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal cancer nasopharyngeal cancer Nasopharyngeal Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 nasopharyngeal cancer NCIT:C3871 MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal throat cancer nasopharyngeal throat cancer Nasopharyngeal Throat Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 nasopharyngeal throat cancer NCIT:C3871 -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm NCIT:C9321, DOID:9261 malignant nasopharyngeal tumor NCIT:C9321 -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm ICD9CM:147, DOID:9261, MTH:NOCODE malignant neoplasm of nasopharynx NCIT:C9321 MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired agammaglobulinemia acquired agammaglobulinemia Acquired Agammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency NCIT:C26725, DOID:12177 acquired agammaglobulinemia NCIT:C26725 MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia acquired hypogammaglobulinemia Acquired Hypogammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency DOID:12177 acquired hypogammaglobulinemia NCIT:C26725 MONDO:0015528 congenital epulis oio:hasExactSynonym oio:hasRelatedSynonym gingival granular cell tumor gingival granular cell tumor Gingival Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis NCIT:C4675 gingival granular cell tumor NCIT:C4675 MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym oio:hasRelatedSynonym IDCT NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IDCT IDCT NCIT:C81767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic disorder hemophagocytic disorder Hemophagocytic Disorder NCIT:C34792 Hemophagocytic Lymphohistiocytosis NCIT:C34792 hemophagocytic disorder NCIT:C34792 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis GARD:0006589 familial hemophagocytic lymphohistiocytosis NCIT:C61276 MONDO:0015589 paraneoplastic limbic encephalitis oio:hasExactSynonym oio:hasBroadSynonym limbic encephalitis limbic encephalitis Limbic Encephalitis NCIT:C4350 Limbic Encephalitis NCIT:C4350 limbic encephalitis NCIT:C4350 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 hereditary motor and sensory neuropathy NCIT:C75467 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary sensorimotor neuropathy hereditary sensorimotor neuropathy Hereditary Sensorimotor Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 hereditary sensorimotor neuropathy NCIT:C75467 -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia NCIT:C27753 acute myeloid leukemia NCIT:C3171 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 Mosaicism NCIT:C116319 Trisomy 14 Mosaicism GARD:0001327 trisomy 14 mosaicism NCIT:C116319 MONDO:0015742 periventricular leukomalacia oio:hasExactSynonym oio:hasRelatedSynonym PVL NCIT:C99013 Periventricular Leukomalacia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010285 PVL NCIT:C99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015863 polyembryoma oio:hasExactSynonym oio:hasRelatedSynonym gonadal polyembryoma gonadal polyembryoma Gonadal Polyembryoma NCIT:C66776 Gonadal Polyembryoma GARD:0009621 gonadal polyembryoma NCIT:C66776 @@ -7509,11 +6159,6 @@ MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer o MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma NCIT:C3917 cancer of vagina NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 vagina cancer NCIT:C3917 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer vaginal cancer Vaginal Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 vaginal cancer NCIT:C3917 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma Phyllodes NCIT:C2977 Phyllodes Tumor DOID:1631 cystosarcoma phyllodes NCIT:C2977 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes Neoplasm NCIT:C2977 Phyllodes Tumor NCIT:C2977, DOID:1631 phyllodes neoplasm NCIT:C2977 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes benign cystosarcoma phyllodes Benign Cystosarcoma Phyllodes NCIT:C4274 Benign Phyllodes Tumor DOID:1631 benign cystosarcoma phyllodes NCIT:C4274 -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm Benign Phyllodes Neoplasm NCIT:C4274 Benign Phyllodes Tumor DOID:1631, NCIT:C4274 benign phyllodes neoplasm NCIT:C4274 -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Paget disease of the breast Paget Disease of the Breast NCIT:C47857 Breast Paget Disease Orphanet:180275 Paget disease of the breast NCIT:C47857 MONDO:0015998 isolated ectopia lentis oio:hasExactSynonym oio:hasRelatedSynonym congenital ectopic lens congenital ectopic lens Congenital Ectopic Lens NCIT:C34566 Congenital Ectopic Lens NCIT:C34566 congenital ectopic lens NCIT:C34566 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 NCIT:C125700 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VI Ehlers-Danlos Syndrome, Type VI NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400, MONDO:Lexical, MESH:C536198 Ehlers-Danlos syndrome, type VI NCIT:C125700 @@ -7522,41 +6167,18 @@ MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym phenytoin embryopathy phenytoin embryopathy Phenytoin Embryopathy NCIT:C98927 Fetal Hydantoin Syndrome GARD:0006435 phenytoin embryopathy NCIT:C98927 MONDO:0016012 diethylstilbestrol syndrome oio:hasExactSynonym oio:hasRelatedSynonym fetal diethylstilbestrol syndrome fetal diethylstilbestrol syndrome Fetal Diethylstilbestrol Syndrome NCIT:C113422 Diethylstilbestrol Syndrome GARD:0001859 fetal diethylstilbestrol syndrome NCIT:C113422 MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSynonym calcifying aponeurotic fibroma calcifying aponeurotic fibroma Calcifying Aponeurotic Fibroma NCIT:C4818 Calcifying Aponeurotic Fibroma Orphanet:199260 calcifying aponeurotic fibroma NCIT:C4818 -MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma DOID:6457, NCIT:C8419 dysplastic gangliocytoma of cerebellum NCIT:C8419 MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS NCIT:C84657 Cryopyrin-Associated Periodic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS NCIT:C84657 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C3099 -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C7955 MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956 hepatocellular cancer NCIT:C7956 MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym oio:hasRelatedSynonym KHE NCIT:C27510 Kaposiform Hemangioendothelioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003077 KHE NCIT:C27510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C7634 hemangiopericytoma NCIT:C3087 -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C7634 hemangiopericytoma NCIT:C50401 MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C7634 hemangiopericytoma NCIT:C7634 -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasNarrowSynonym carcinosarcoma of the uterus carcinosarcoma of the uterus Carcinosarcoma of the Uterus NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180 carcinosarcoma of the uterus NCIT:C42700 -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasBroadSynonym uterine carcinosarcoma uterine carcinosarcoma Uterine Carcinosarcoma NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180, Orphanet:213610 uterine carcinosarcoma NCIT:C42700 MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development Orphanet:2138 true hermaphroditism NCIT:C127167 -MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism Orphanet:2138 true hermaphroditism NCIT:C85207 MONDO:0016356 diffuse cutaneous systemic sclerosis oio:hasExactSynonym oio:hasRelatedSynonym DcSSc DcSSc dcSSc NCIT:C116791 Diffuse Cutaneous Systemic Sclerosis GARD:0009751 DcSSc NCIT:C116791 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult Dermatomyositis NCIT:C27313 Adult Dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis NCIT:C27313 MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym oio:hasBroadSynonym hypogammaglobulinemia hypogammaglobulinemia Hypogammaglobulinemia NCIT:C26931 Hypogammaglobulinemia NCIT:C26931 hypogammaglobulinemia NCIT:C26931 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasBroadSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis Orphanet:2467 Mast cell disease NCIT:C84269 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis Aggressive Systemic Mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 Aggressive systemic mastocytosis NCIT:C9285 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 Aggressive systemic mastocytosis NCIT:C9285 -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm meningeal neoplasm Meningeal Neoplasm NCIT:C3229 Meningeal Neoplasm DOID:3565 meningeal neoplasm NCIT:C3229 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym R5 NCIT:C121984 ROSE Cluster 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010841 R5 NCIT:C121984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016668 sickle cell-beta-thalassemia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym sickle beta thalassemia sickle beta thalassemia Sickle Beta Thalassemia NCIT:C95539 Sickle Beta Thalassemia GARD:0010333 sickle beta thalassemia NCIT:C95539 -MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-Grade Astrocytoma NCIT:C9477 Anaplastic Astrocytoma Orphanet:251561 high-grade astrocytoma NCIT:C9477 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm oligodendroglial neoplasm Oligodendroglial Neoplasm NCIT:C6960 Oligodendroglial Tumor DOID:3181 oligodendroglial neoplasm NCIT:C6960 -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial Tumor NCIT:C6960 Oligodendroglial Tumor DOID:3181, NCIT:C6960 oligodendroglial tumor NCIT:C6960 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal neoplasm WHO grade II ependymal neoplasm WHO Grade II Ependymal Neoplasm NCIT:C3017 Ependymoma NCIT:C3017 WHO grade II ependymal neoplasm NCIT:C3017 MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO Grade II Ependymal Tumor NCIT:C3017 Ependymoma DOID:4844, NCIT:C3017 WHO grade II ependymal tumor NCIT:C3017 -MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma MONDO:patterns/benign ependymoma, benign NCIT:C3697 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 CNS PNET NCIT:C5398 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system PNET central nervous system PNET Central Nervous System PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 central nervous system PNET NCIT:C5398 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central Nervous System Primitive Neuroectodermal Tumor NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 central nervous system primitive neuroectodermal tumor NCIT:C5398 MONDO:0016715 ependymoblastoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal tumor with abundant neuropil and true rosettes embryonal tumor with abundant neuropil and true rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered GARD:0006352 embryonal tumor with abundant neuropil and true rosettes NCIT:C4915 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of choroid plexus malignant neoplasm of choroid plexus Malignant Neoplasm of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 malignant neoplasm of choroid plexus NCIT:C4533 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm NCIT:C4533, DOID:5648 malignant neoplasm of the choroid plexus NCIT:C4533 -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 malignant tumor of choroid plexus NCIT:C4533 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715, DOID:5648 cancer of choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the choroid plexus cancer of the choroid plexus Cancer of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 cancer of the choroid plexus NCIT:C4715 MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 choroid plexus cancer NCIT:C4715 @@ -7564,22 +6186,15 @@ MONDO:0016787 epithelioid trophoblastic tumor oio:hasExactSynonym oio:hasRelated MONDO:0016985 nevus of Ito oio:hasExactSynonym oio:hasRelatedSynonym hypomelanosis of Ito hypomelanosis of Ito Hypomelanosis of Ito NCIT:C7582 Nevus of Ito NCIT:C7582 hypomelanosis of Ito NCIT:C7582 MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired factor II deficiency acquired factor II deficiency Acquired Factor II Deficiency NCIT:C131622 Acquired Factor II Deficiency GARD:0000475 acquired factor II deficiency NCIT:C131622 MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C114483 -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114483 Langerhans cell histiocytosis NCIT:C3107 -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C114483 MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C114929 -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114929 Langerhans cell histiocytosis NCIT:C3107 -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 +MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 mesoblastic nephroma NCIT:C6569 MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele NCIT:C101201 Myelomeningocele NCIT:C101201 myelomeningocele NCIT:C101201 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele CRANIAL MENINGOCELE NCIT:C124517 Cranial Meningocele Orphanet:268820 cranial meningocele NCIT:C124517 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial Meningocele NCIT:C124517 Cranial Meningocele Orphanet:268820 cranial meningocele NCIT:C124517 MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym River blindness River blindness River Blindness NCIT:C34861 Onchocerciasis GARD:0007252 River blindness NCIT:C34861 MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym oio:hasBroadSynonym hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia Hyperinsulinemic Hypoglycemia NCIT:C131425 Congenital Hyperinsulinism NCIT:C131425 hyperinsulinemic hypoglycemia NCIT:C131425 -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis crescentic glomerulonephritis Crescentic Glomerulonephritis NCIT:C35444 Crescentic Glomerulonephritis Orphanet:280569 crescentic glomerulonephritis NCIT:C35444 -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C50401 hemangiopericytoma NCIT:C3087 MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C50401 hemangiopericytoma NCIT:C50401 -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C50401 hemangiopericytoma NCIT:C7634 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017419 non-syndromic amelia oio:hasExactSynonym oio:hasBroadSynonym amelia amelia Amelia NCIT:C34370 Amelia MONDO:ambiguous amelia NCIT:C34370 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of pituitary cancer of pituitary Cancer of Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of pituitary NCIT:C4536 @@ -7587,19 +6202,11 @@ MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary cancer of the pituitary Cancer of the Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of the pituitary NCIT:C4536 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary gland cancer of the pituitary gland Cancer of the Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 cancer of the pituitary gland NCIT:C4536 MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 pituitary gland cancer NCIT:C4536 -MONDO:0017767 rheumatic fever oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder GARD:0005699 inflammatory rheumatism NCIT:C27204 MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease Whitmore disease Whitmore Disease NCIT:C128336 Melioidosis GARD:0009546 Whitmore disease NCIT:C128336 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid odontogenic tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 adenomatoid odontogenic tumor NCIT:C4310 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid Odontogenic Tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 adenomatoid odontogenic tumor NCIT:C4310 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym AOT aot AOT NCIT:C4310 Adenomatoid Odontogenic Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005747 AOT NCIT:C4310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma NCIT:C7644 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C3798, Orphanet:3148 neurofibrosarcoma NCIT:C3798 -MONDO:0017844 Sezary syndrome oio:hasExactSynonym oio:hasRelatedSynonym SS NCIT:C3400 Synovial Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SS SS NCIT:C3400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia Variabilis et Progressiva NCIT:C84696 Erythrokeratodermia Variabilis OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva NCIT:C84696 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease pulseless disease Pulseless Disease NCIT:C35062 Takayasu Arteritis OMIM:207600 pulseless disease NCIT:C35062 -MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym TA NCIT:C4487 Tufted Angioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007730 TA NCIT:C4487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency factor XIII deficiency Factor XIII Deficiency NCIT:C131633 Factor XIII Deficiency DOID:2211 factor XIII deficiency NCIT:C131633 -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7955 hepatocellular cancer NCIT:C3099 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood carcinoma of liver cell childhood carcinoma of liver cell Childhood Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood carcinoma of liver cell NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood hepatoma childhood hepatoma Childhood Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood hepatoma NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood liver cell carcinoma childhood liver cell carcinoma Childhood Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 childhood liver cell carcinoma NCIT:C7955 @@ -7607,25 +6214,16 @@ MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric carcinoma of liver cell pediatric carcinoma of liver cell Pediatric Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric carcinoma of liver cell NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric hepatoma pediatric hepatoma Pediatric Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric hepatoma NCIT:C7955 MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric liver cell carcinoma pediatric liver cell carcinoma Pediatric Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 pediatric liver cell carcinoma NCIT:C7955 -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7955 hepatocellular cancer NCIT:C7956 MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploid syndrome triploid syndrome Triploid Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 triploid syndrome NCIT:C85204 MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy syndrome triploidy syndrome Triploidy Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 triploidy syndrome NCIT:C85204 MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasNarrowSynonym active tuberculosis active tuberculosis Active Tuberculosis NCIT:C3423 Tuberculosis NCIT:C3423 active tuberculosis NCIT:C3423 MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym TB NCIT:C3423 Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007827 TB NCIT:C3423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malignant soft tissue tumor malignant soft tissue tumor Malignant Soft Tissue Tumor NCIT:C4867 Malignant Soft Tissue Neoplasm Orphanet:3394 malignant soft tissue tumor NCIT:C4867 -MONDO:0018087 viral hemorrhagic fever oio:hasExactSynonym oio:hasBroadSynonym hemorrhagic fever hemorrhagic fever Hemorrhagic Fever NCIT:C36169 Hemorrhagic Fever ORCID:0000-0002-6315-0263, https://medlineplus.gov/hemorrhagicfevers.html hemorrhagic fever NCIT:C36169 MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym oio:hasRelatedSynonym Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome GARD:0007862 Vogt-Koyanagi-Harada syndrome NCIT:C85218 MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood EBV-positive T-cell lymphoproliferative disorder of childhood EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood NCIT:C80373 EBV-Positive T-Cell/NK-Cell Lymphoproliferative Disorder of Childhood DOID:0070324 EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80373 -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema Multiforme Major NCIT:C3385 Erythema Multiforme Major NCIT:C79484 erythema multiforme major NCIT:C3385 MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH NCIT:C3107 Langerhans Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 LCH NCIT:C3107 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:OIMT immature teratoma NCIT:C4286 -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-Pancreatic Cancer Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome Orphanet:404560 melanoma-pancreatic cancer syndrome NCIT:C176904 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenal hyperplasia adrenal hyperplasia Adrenal Hyperplasia NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenal hyperplasia NCIT:C34360 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital disorder adrenogenital disorder Adrenogenital Disorder NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenogenital disorder NCIT:C34360 MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital Syndrome NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 adrenogenital syndrome NCIT:C34360 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm DOID:7235 pancreatic mucinous cystic neoplasm NCIT:C41247 -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma Orphanet:424053 pancreatic mucinous cystadenocarcinoma NCIT:C5713 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of pancreas colloid cystadenoma of pancreas Colloid Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloid cystadenoma of pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of the pancreas colloid cystadenoma of the pancreas Colloid Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloid cystadenoma of the pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloidal cystadenoma of pancreas colloidal cystadenoma of pancreas Colloidal Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 colloidal cystadenoma of pancreas NCIT:C5718 @@ -7633,7 +6231,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelated MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenoma of the pancreas mucinous cystadenoma of the pancreas Mucinous Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 mucinous cystadenoma of the pancreas NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma pancreatic colloid cystadenoma Pancreatic Colloid Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 pancreatic colloid cystadenoma NCIT:C5718 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloidal cystadenoma pancreatic colloidal cystadenoma Pancreatic Colloidal Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 pancreatic colloidal cystadenoma NCIT:C5718 -MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid Pseudopapillary Neoplasm of the Pancreas NCIT:C37212 Solid Pseudopapillary Neoplasm of the Pancreas Orphanet:424065 solid pseudopapillary neoplasm of the pancreas NCIT:C37212 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of liver NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver and intrahepatic biliary tract cancer of liver and intrahepatic biliary tract Cancer of Liver and Intrahepatic Biliary Tract NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of liver and intrahepatic biliary tract NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of the liver cancer of the liver Cancer of the Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 cancer of the liver NCIT:C7927 @@ -7642,43 +6239,20 @@ MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSyno MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma NCIT:C7927 liver cancer NCIT:C7927 MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma ORCID:0000-0002-6601-2165 liver carcinoma NCIT:C7927 MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome NCIT:C116917 Marshall syndrome NCIT:C116917 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome NCIT:C116917 Marshall syndrome NCIT:C128115 -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis diffuse sclerosis Diffuse Sclerosis NCIT:C72070 Systemic Scleroderma DOID:10588 diffuse sclerosis NCIT:C72070 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism hypogonadotropism Hypogonadotropism NCIT:C9227 Hypogonadism MONDO:0004228 hypogonadotropism NCIT:C9227 MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis familial amyloidosis Familial Amyloidosis NCIT:C84555 Familial Amyloidosis GARD:0006611 familial amyloidosis NCIT:C84555 MONDO:0018715 congenital hemangioma oio:hasExactSynonym oio:hasRelatedSynonym congenital angioma congenital angioma Congenital Angioma NCIT:C3841 Congenital Hemangioma NCIT:C3841 congenital angioma NCIT:C3841 MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym benign mucous membrane pemphigoid benign mucous membrane pemphigoid Benign Mucous Membrane Pemphigoid NCIT:C34907 Benign Mucous Membrane Pemphigoid DOID:11656, GARD:0005913 benign mucous membrane pemphigoid NCIT:C34907 MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating Thoracic Dystrophy NCIT:C84794 Jeune Syndrome DOID:0050592 asphyxiating thoracic dystrophy NCIT:C84794 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid Hyperplasia with Eosinophilia NCIT:C4298 Epithelioid Hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia NCIT:C4298 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:BEC embryonal carcinoma NCIT:C3752 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 Lawrence-Seip syndrome NCIT:C84594 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital Generalized Lipodystrophy NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 congenital generalized lipodystrophy NCIT:C84594 MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma NCIT:C2964 cystoma NCIT:C2964 -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma NCIT:C2964 cystoma NCIT:C2972 MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism NCIT:C2969 Cushing Syndrome Orphanet:553 hypercortisolism NCIT:C2969 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic Fibrous Dysplasia NCIT:C34610 Polyostotic Fibrous Dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia NCIT:C34610 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis Type IIIA NCIT:C84897 Mucopolysaccharidosis Type IIIA DOID:12801 mucopolysaccharidosis type IIIA NCIT:C84897 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis Type IIIB NCIT:C84898 Mucopolysaccharidosis Type IIIB DOID:12801 mucopolysaccharidosis type IIIB NCIT:C84898 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis Type IVA NCIT:C84901 Mucopolysaccharidosis Type IVA DOID:12804 mucopolysaccharidosis type IVA NCIT:C84901 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis Type IVB NCIT:C84902 Mucopolysaccharidosis Type IVB DOID:12804 mucopolysaccharidosis type IVB NCIT:C84902 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform Mole NCIT:C3110 Hydatidiform Mole DOID:3590 hydatidiform mole NCIT:C3110 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar Pregnancy NCIT:C3110 Hydatidiform Mole NCIT:C3110, DOID:3590 molar pregnancy NCIT:C3110 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans NCIT:C122789 Myotonia Fluctuans OMIM:608390 Myotonia Fluctuans NCIT:C122789 MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis NCIT:C34842 Alport Syndrome NCIT:C34842, DOID:10983 hereditary nephritis NCIT:C34842 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease Von Recklinghausen Disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 neurofibromatosis NCIT:C3273 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis Type 1 Microdeletion Syndrome NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome NCIT:C3273 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis NCIT:C3273 neurofibromatosis NCIT:C6727 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor Orphanet:654 Wilms tumor NCIT:C27730 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym childhood renal Wilms tumor childhood renal Wilms tumor Childhood Renal Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor DOID:2154 childhood renal Wilms tumor NCIT:C27730 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor Orphanet:654 Wilms tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor Orphanet:654 Wilms tumor NCIT:C3267 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor NCIT:C40407 Wilms' tumor NCIT:C3267 MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym embryonal nephroma embryonal nephroma Embryonal Nephroma NCIT:C40407 Kidney Wilms Tumor NCIT:C40407 embryonal nephroma NCIT:C40407 -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym nonanaplastic renal Wilm's tumor nonanaplastic renal Wilm's tumor Nonanaplastic Renal Wilm's Tumor NCIT:C6951 Nonanaplastic Kidney Wilms Tumor DOID:5176 nonanaplastic renal Wilm's tumor NCIT:C6951 -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism GARD:0003947 congenital hyperinsulinism NCIT:C131425 -MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C98997 eventration NCIT:C84725 MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C98997 eventration NCIT:C98997 MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym broken-heart syndrome broken-heart syndrome Broken-heart Syndrome NCIT:C85181 Takotsubo Cardiomyopathy GARD:0009400 broken-heart syndrome NCIT:C85181 MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym malignant osteopetrosis malignant osteopetrosis Malignant Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis NCIT:C129733 malignant osteopetrosis NCIT:C129733 @@ -7687,49 +6261,34 @@ MONDO:0019050 inherited hemoglobinopathy oio:hasExactSynonym oio:hasRelatedSynon MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513, DOID:1107 cancer of esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of the esophagus cancer of the esophagus Cancer of the Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513 cancer of the esophagus NCIT:C3513 MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma NCIT:C3513 esophageal cancer NCIT:C3513 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma Orphanet:70567 bile duct cancer NCIT:C27814 -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C35417 Intrahepatic Cholangiocarcinoma NCIT:C4436 intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C35417 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma NCIT:C4436 intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 -MONDO:0019095 plague oio:hasExactSynonym oio:hasBroadSynonym Yersiniosis NCIT:C128337 Yersiniosis Orphanet:707 Yersiniosis NCIT:C128337 MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome Devic syndrome Devic Syndrome NCIT:C84934 Neuromyelitis Optica GARD:0006267 Devic syndrome NCIT:C84934 MONDO:0019104 Sandifer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sandifer's syndrome Sandifer's syndrome Sandifer's Syndrome NCIT:C113397 Sandifer's Syndrome GARD:0009684 Sandifer's syndrome NCIT:C113397 -MONDO:0019134 central neurocytoma oio:hasExactSynonym oio:hasRelatedSynonym CNC NCIT:C4705 Carney Complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CNC CNC NCIT:C4705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal Acid Lipase Deficiency NCIT:C61271 Wolman Disease NCIT:C61271 lysosomal acid lipase deficiency NCIT:C61271 -MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym pseudohypoaldosteronism type I autosomal recessive pseudohypoaldosteronism type I autosomal recessive Pseudohypoaldosteronism Type I Autosomal Recessive NCIT:C123251 Pseudohypoaldosteronism Type 1 NCIT:C123251 pseudohypoaldosteronism type I autosomal recessive NCIT:C123251 MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym PHA1B NCIT:C123251 Pseudohypoaldosteronism Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C123251 PHA1B NCIT:C123251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome Gordon Syndrome NCIT:C123252 Pseudohypoaldosteronism Type 2 NCIT:C123252 Gordon syndrome NCIT:C123252 MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder Zellweger spectrum disorder Zellweger Spectrum Disorder NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder NCIT:C146639 MONDO:0019402 beta thalassemia oio:hasExactSynonym oio:hasRelatedSynonym thalassemia major thalassemia major Thalassemia Major NCIT:C34375 Beta Thalassemia NCIT:C34375 thalassemia major NCIT:C34375 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma NCIT:C6912 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma NCIT:C6912 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic juvenile idiopathic arthritis systemic juvenile idiopathic arthritis Systemic Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 systemic juvenile idiopathic arthritis NCIT:C119031 MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic onset juvenile idiopathic arthritis systemic onset juvenile idiopathic arthritis Systemic Onset Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 systemic onset juvenile idiopathic arthritis NCIT:C119031 MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym enthesitis-related arthritis enthesitis-related arthritis Enthesitis-Related Arthritis NCIT:C119024 Enthesitis-Related Arthritis GARD:0010969 enthesitis-related arthritis NCIT:C119024 -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary Systemic Amyloidosis NCIT:C8299 Primary Systemic Amyloidosis GARD:0005797 primary systemic amyloidosis NCIT:C8299 -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed Phenotype Acute Leukemia NCIT:C82179 Mixed Phenotype Acute Leukemia Orphanet:86851 mixed phenotype acute leukemia NCIT:C82179 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 HTLV-1 associated adult T-cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I Associated Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 HTLV-I associated adult T-cell leukemia/lymphoma NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T cell lymphoma/leukemia adult T cell lymphoma/leukemia Adult T Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-cell lymphoma/leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T-cell lymphoma/leukemia NCIT:C3184 MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 adult T-cell lymphoma/leukemia NCIT:C3184 -MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LCS LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome DOID:3491 Bonnevie-Ullrich syndrome NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ullrich-Turner syndrome Ullrich-Turner syndrome Ullrich-Turner Syndrome NCIT:C26900 Turner Syndrome GARD:0007831 Ullrich-Turner syndrome NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C26900 Turner Syndrome NCIT:C26900 gonadal dysgenesis NCIT:C26900 MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X NCIT:C26900 Turner Syndrome DOID:3491, NCIT:C36630 monosomy X NCIT:C26900 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome DOID:3491 Bonnevie-Ullrich syndrome NCIT:C34434 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C61420 Gonadal Dysgenesis NCIT:C26900 gonadal dysgenesis NCIT:C61420 MONDO:0019530 non-syndromic syndactyly oio:hasExactSynonym oio:hasRelatedSynonym syndactyly syndactyly Syndactyly NCIT:C87125 Syndactyly MONDO:ambiguous syndactyly NCIT:C87125 MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym oio:hasRelatedSynonym warm antibody autoimmune hemolytic anemia warm antibody autoimmune hemolytic anemia Warm Antibody Autoimmune Hemolytic Anemia NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia GARD:0007876 warm antibody autoimmune hemolytic anemia NCIT:C162611 MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid Lupus Erythematosus NCIT:C117112 Lupus Erythematosus Tumidus GARD:0013003 tumid lupus erythematosus NCIT:C117112 MONDO:0019563 CREST syndrome oio:hasExactSynonym oio:hasBroadSynonym lcSSc NCIT:C70646 CREST Syndrome NCIT:C70646 lcSSc NCIT:C70646 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Ii Ehlers-Danlos syndrome, type Ii Ehlers-Danlos Syndrome, Type II NCIT:C125697 Ehlers-Danlos Syndrome, Type II OMIM:130010 Ehlers-Danlos syndrome, type Ii NCIT:C125697 MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Cockayne syndrome type A Cockayne syndrome type A Cockayne Syndrome Type A NCIT:C135725 Cockayne Syndrome Type A GARD:0001415 Cockayne syndrome type A NCIT:C135725 -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor Orphanet:913 gastrinoma NCIT:C3050 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Unicentric Castleman disease Unicentric Castleman Disease NCIT:C115200 Unicentric Castleman Disease GARD:0006005 Unicentric Castleman disease NCIT:C115200 MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym TTTS NCIT:C113824 Twin-Twin Transfusion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000325 TTTS NCIT:C113824 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome Lyell Syndrome NCIT:C79777 Toxic Epidermal Necrolysis NCIT:C79777 Lyell syndrome NCIT:C79777 @@ -7737,21 +6296,15 @@ MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynony MONDO:0019903 ring chromosome 2 oio:hasExactSynonym oio:hasRelatedSynonym R2 NCIT:C121981 ROSE Cluster 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010837 R2 NCIT:C121981 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019904 ring chromosome 3 oio:hasExactSynonym oio:hasRelatedSynonym R3 NCIT:C121982 ROSE Cluster 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010839 R3 NCIT:C121982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019928 48,XXXY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXXY syndrome XXXY syndrome XXXY Syndrome NCIT:C89799 XXXY Syndrome GARD:0005676 XXXY syndrome NCIT:C89799 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome WDHA syndrome WDHA Syndrome NCIT:C3488 WDHA Syndrome Orphanet:97282 WDHA syndrome NCIT:C3488 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera pancreatic cholera Pancreatic Cholera NCIT:C3488 WDHA Syndrome GARD:0003787, Orphanet:97282 pancreatic cholera NCIT:C3488 -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym watery diarrhea, hypokalemia, and achlorhydria syndrome watery diarrhea, hypokalemia, and achlorhydria syndrome Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome NCIT:C3488 WDHA Syndrome GARD:0003787 watery diarrhea, hypokalemia, and achlorhydria syndrome NCIT:C3488 -MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified NCIT:C27350, DOID:2226 CMPD, U NCIT:C27350 MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym chronic myeloproliferative disorders chronic myeloproliferative disorders Chronic Myeloproliferative Disorders NCIT:C4345 Myeloproliferative Neoplasm GARD:0009319 chronic myeloproliferative disorders NCIT:C4345 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AV septal defect AV septal defect AV Septal Defect NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 AV septal defect NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular Septal Defect NCIT:C101029 Atrioventricular Septal Defect Orphanet:98722 atrioventricular septal defect NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common AV canal common AV canal Common AV Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 common AV canal NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common atrioventricular canal common atrioventricular canal Common Atrioventricular Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 common atrioventricular canal NCIT:C101029 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect endocardial cushion defect Endocardial Cushion Defect NCIT:C101029 Atrioventricular Septal Defect DOID:0050651 endocardial cushion defect NCIT:C101029 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal (thymic) large B-cell lymphoma primary mediastinal (thymic) large B-cell lymphoma Primary Mediastinal (Thymic) Large B-Cell Lymphoma NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma ONCOTREE:PMBL primary mediastinal (thymic) large B-cell lymphoma NCIT:C9280 MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP NCIT:C3721 Lymphomatoid Papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP LYP NCIT:C3721 MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired Pure Red Cell Aplasia NCIT:C70548 Acquired Pure Red Cell Aplasia GARD:0010898 acquired pure red cell aplasia NCIT:C70548 -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma primary congenital glaucoma Primary Congenital Glaucoma NCIT:C150251 Primary Congenital Glaucoma Orphanet:98976 primary congenital glaucoma NCIT:C150251 MONDO:0020479 pituitary gigantism oio:hasExactSynonym oio:hasRelatedSynonym gigantism gigantism Gigantism NCIT:C93046 Gigantism GARD:0006506 gigantism NCIT:C93046 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B cell acute lymphocytic leukemia B cell acute lymphocytic leukemia B Cell Acute Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 B cell acute lymphocytic leukemia NCIT:C8644 @@ -7762,21 +6315,16 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B cell lymphocytic leukemia acute B cell lymphocytic leukemia Acute B Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 acute B cell lymphocytic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B-cell lymphocytic leukemia acute B-cell lymphocytic leukemia Acute B-Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 acute B-cell lymphocytic leukemia NCIT:C8644 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL NCIT:C8644 B Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 B-ALL NCIT:C8644 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C9140 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C8644 B acute lymphoblastic leukemia NCIT:C9143 MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma NCIT:C3072 Ovarian Gynandroblastoma GARD:0009665 Gynandroblastoma NCIT:C3072 MONDO:0020546 acute graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym acute GVHD acute GVHD Acute GVHD NCIT:C4980 Acute Graft Versus Host Disease GARD:0006544 acute GVHD NCIT:C4980 MONDO:0020547 chronic graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym chronic GVHD chronic GVHD Chronic GVHD NCIT:C4981 Chronic Graft Versus Host Disease GARD:0010964 chronic GVHD NCIT:C4981 -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid Tumor Predisposition Syndrome NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome DOID:2129 rhabdoid tumor predisposition syndrome NCIT:C93268 MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym angiokeratoma of fordyce angiokeratoma of fordyce Angiokeratoma of Fordyce NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 angiokeratoma of fordyce NCIT:C7752 MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym fordyce angiokeratoma fordyce angiokeratoma Fordyce Angiokeratoma NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 fordyce angiokeratoma NCIT:C7752 -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma NCIT:C4051 meningioma, malignant NCIT:C38938 -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 +MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 meningioma, malignant NCIT:C4051 MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym acute Bronchiolitis acute Bronchiolitis Acute Bronchiolitis NCIT:C39659 Acute Bronchiolitis NCIT:C39659 acute Bronchiolitis NCIT:C39659 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSMC1 NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601776 EDSMC1 NCIT:C168975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020689 AIDS dementia complex oio:hasExactSynonym oio:hasRelatedSynonym AIDS Dementia NCIT:C2864 AIDS Dementia NCIT:C2864 AIDS Dementia NCIT:C2864 -MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C3058 Glioblastoma NCIT:C9094 glioblastoma NCIT:C3058 MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma NCIT:C9094 glioblastoma NCIT:C9094 MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym oio:hasBroadSynonym BAD NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS NCIT:C133085 BAD NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020725 anemia due to chronic disorder oio:hasExactSynonym oio:hasRelatedSynonym anemia due to Chronic Disorder anemia due to Chronic Disorder Anemia due to Chronic Disorder NCIT:C35659 Anemia due to Chronic Disorder NCIT:C35659 anemia due to Chronic Disorder NCIT:C35659 @@ -7784,7 +6332,6 @@ MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbo MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbovirus infection Arbovirus infection Arbovirus Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 Arbovirus infection NCIT:C34396 MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection NCIT:C34396 MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-borne viral infection Arthropod-borne viral infection Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 Arthropod-borne viral infection NCIT:C34396 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 oio:hasExactSynonym oio:hasBroadSynonym EDA-ID EDA-Id EDA-ID NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300291 EDA-ID NCIT:C118844 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda equina syndrome with neurogenic bladder Cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder UMLS:C0007459 Cauda equina syndrome with neurogenic bladder NCIT:C34453 MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym oio:hasRelatedSynonym Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea MESH:D002559, NCIT:C84627 Cerebrospinal Fluid Rhinorrhea NCIT:C84627 @@ -7810,17 +6357,13 @@ MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary persistence of fetal hemoglobin Hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin UMLS:C0019025 Hereditary persistence of fetal hemoglobin NCIT:C129072 MONDO:0021032 herpes zoster with dermatitis of eyelid oio:hasExactSynonym oio:hasRelatedSynonym Herpes Zoster Dermatitis of Eyelid NCIT:C34696 Herpes Zoster Dermatitis of Eyelid NCIT:C34696 Herpes Zoster Dermatitis of Eyelid NCIT:C34696 -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor extraosseous Ewing's tumor Extraosseous Ewing's Tumor NCIT:C7135 Extraskeletal Ewing Sarcoma DOID:4985, NCIT:C7135 extraosseous Ewing's tumor NCIT:C7135 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body chemodectoma carotid body chemodectoma Carotid Body Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body chemodectoma NCIT:C2932 -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid Body Tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 carotid body tumor NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 chemodectoma NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym paraganglioma of the carotid body paraganglioma of the carotid body Paraganglioma of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 paraganglioma of the carotid body NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of carotid body tumor of carotid body Tumor of Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 tumor of carotid body NCIT:C2932 MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of the carotid body tumor of the carotid body Tumor of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 tumor of the carotid body NCIT:C2932 -MONDO:0021061 neurofibromatosis oio:hasExactSynonym oio:hasNarrowSynonym neurofibromatosis type 2 neurofibromatosis type 2 Neurofibromatosis Type 2 NCIT:C3274 Neurofibromatosis Type 2 DOID:8712 neurofibromatosis type 2 NCIT:C3274 -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Glomus tumor Glomus tumor Glomus Tumor NCIT:C3060 Glomus Tumor GARD:0010599 Glomus tumor NCIT:C3060 -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm endocrine neoplasm Endocrine Neoplasm NCIT:C3010 Endocrine Neoplasm DOID:170 endocrine neoplasm NCIT:C3010 MONDO:0021070 sublingual gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma NCIT:C8397 sublingual gland cancer NCIT:C8397 MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of visual system disorder of visual system Disorder of Visual System NCIT:C35126 Vision Disorder NCIT:C35126 disorder of visual system NCIT:C35126 MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasRelatedSynonym visual Field disorder visual Field disorder Visual Field Disorder NCIT:C35126 Vision Disorder NCIT:C35126 visual Field disorder NCIT:C35126 @@ -7831,18 +6374,14 @@ MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tum MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor Appendiceal L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor NCIT:C27445 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell NET appendix L-cell NET Appendix L-Cell NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendix L-cell NET NCIT:C27445 MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell glucagon-like peptide-producing NET appendix L-cell glucagon-like peptide-producing NET Appendix L-Cell Glucagon-Like Peptide-Producing NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 appendix L-cell glucagon-like peptide-producing NET NCIT:C27445 -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute Respiratory Failure NCIT:C27043 Acute Respiratory Failure NCIT:C27043, DOID:11162 acute respiratory failure NCIT:C27043 MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos microphthalmos Microphthalmos NCIT:C98989 Microphthalmos DOID:10629 microphthalmos NCIT:C98989 MONDO:0021165 Paget disease oio:hasExactSynonym oio:hasBroadSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease NCIT:C7073 Paget cell neoplasm NCIT:C7073 MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis NCIT:C34697 MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic vulvovaginitis Herpetic vulvovaginitis Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis UMLS:C0019386 Herpetic vulvovaginitis NCIT:C34697 MONDO:0021190 DNA repair disease oio:hasExactSynonym oio:hasRelatedSynonym DNA repair deficiency DNA repair deficiency DNA Repair Deficiency NCIT:C7757 DNA Repair Disorder MESH:D049914 DNA repair deficiency NCIT:C7757 -MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar duct papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 -MONDO:0021316 malignant tumor of minor salivary gland oio:hasExactSynonym oio:hasRelatedSynonym minor salivary gland cancer minor salivary gland cancer Minor Salivary Gland Cancer NCIT:C5957 Minor Salivary Gland Carcinoma MONDO:patterns/location minor salivary gland cancer NCIT:C5957 -MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym oio:hasBroadSynonym extrahepatic bile duct cancer extrahepatic bile duct cancer Extrahepatic Bile Duct Cancer NCIT:C3860 Extrahepatic Bile Duct Carcinoma MONDO:patterns/location extrahepatic bile duct cancer NCIT:C3860 +MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 subareolar duct papillomatosis NCIT:C4192 MONDO:0021329 carcinoma of soft palate oio:hasExactSynonym oio:hasBroadSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma NCIT:C8395 soft palate cancer NCIT:C8395 -MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm NCIT:C6791 parotid gland cancer NCIT:C3525 MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma NCIT:C6791 parotid gland cancer NCIT:C6791 MONDO:0021333 carcinoma of lip oio:hasExactSynonym oio:hasBroadSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma NCIT:C3490 lip cancer NCIT:C3490 MONDO:0021335 carcinoma of duodenum oio:hasExactSynonym oio:hasBroadSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma NCIT:C4803 cancer of duodenum NCIT:C4803 @@ -7855,13 +6394,9 @@ MONDO:0021337 tonsil carcinoma oio:hasExactSynonym oio:hasBroadSynonym tonsillar MONDO:0021343 carcinoma of floor of mouth oio:hasExactSynonym oio:hasBroadSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma NCIT:C9319 mouth floor cancer NCIT:C9319 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus NCIT:C34779 MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus Hypertrophic lichen planus Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus UMLS:C0023649 Hypertrophic lichen planus NCIT:C34779 -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myoblastoma myoblastoma Myoblastoma NCIT:C3252 Benign Granular Cell Tumor MESH:D009379 myoblastoma NCIT:C3252 -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myofibroblastoma myofibroblastoma Myofibroblastoma NCIT:C49012 Myofibroblastoma MESH:D009379 myofibroblastoma NCIT:C49012 MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia NCIT:C34853 MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-autoimmune hemolytic anemia Non-autoimmune hemolytic anemia Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia UMLS:C0028283 Non-autoimmune hemolytic anemia NCIT:C34853 MONDO:0021562 omphalitis oio:hasExactSynonym oio:hasRelatedSynonym Omphalitis NCIT:C116008 Omphalitis GTR:AN0533760, NCIT:C116008 Omphalitis NCIT:C116008 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma DOID:3069 astrocytoma of cerebrum NCIT:C4951 -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytoma NCIT:C60781 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym sexually Transmitted infection sexually Transmitted infection Sexually Transmitted Infection NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 sexually Transmitted infection NCIT:C3365 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym venereal disease venereal disease Venereal Disease NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 venereal disease NCIT:C3365 MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym STI NCIT:C3365 Sexually Transmitted Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D012749 STI NCIT:C3365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7903,7 +6438,6 @@ MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym G MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva NCIT:C3881 MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of gingiva Leukoplakia of gingiva Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva UMLS:C0239737 Leukoplakia of gingiva NCIT:C3881 MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C118816 bladder cancer NCIT:C118816 -MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C118816 bladder cancer NCIT:C4912 MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus NCIT:C3937 MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-neoplastic nevus Non-neoplastic nevus Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus UMLS:C0265027 Non-neoplastic nevus NCIT:C3937 MONDO:0022993 dipsogenic diabetes insipidus oio:hasExactSynonym oio:hasBroadSynonym primary polydipsia primary polydipsia Primary Polydipsia NCIT:C129735 Dipsogenic Diabetes Insipidus GARD:0010703, NCIT:C129735 primary polydipsia NCIT:C129735 @@ -7940,12 +6474,8 @@ MONDO:0023628 levator syndrome oio:hasExactSynonym oio:hasRelatedSynonym proctal MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma NCIT:C8428 MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic paraganglioma Tympanic paraganglioma Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma UMLS:C0474820 Tympanic paraganglioma NCIT:C8428 MONDO:0024239 congenital anomaly of cardiovascular system oio:hasExactSynonym oio:hasRelatedSynonym congenital cardiovascular disorder congenital cardiovascular disorder Congenital Cardiovascular Disorder NCIT:C35729 Congenital Cardiovascular Abnormality congenital cardiovascular disorder NCIT:C35729 -MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma Wikipedia:Hidradenocarcinoma hidradenocarcinoma NCIT:C54664 MONDO:0024275 amebic dysentery oio:hasExactSynonym oio:hasRelatedSynonym amebic colitis amebic colitis Amebic Colitis NCIT:C34558 Amebic Colitis MESH:D004404 amebic colitis NCIT:C34558 MONDO:0024287 congenital vascular malformation oio:hasExactSynonym oio:hasBroadSynonym vascular malformation vascular malformation Vascular Malformation NCIT:C112117 Vascular Malformation NCIT:C112117 vascular malformation NCIT:C112117 -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets MESH:D063730 hypophosphatemic vitamin D-resistant rickets NCIT:C85234 -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym vitamin D-resistant rickets vitamin D-resistant rickets Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#DEPRECATED MESH:D063730 vitamin D-resistant rickets NCIT:C85234 -MONDO:0024330 infectious otitis media oio:hasExactSynonym oio:hasBroadSynonym otitis media otitis media Otitis Media NCIT:C34885 Otitis Media NCIT:C84354 otitis media NCIT:C34885 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of large bowel NCIT:C2955 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of large intestine NCIT:C2955 MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 cancer of the large bowel NCIT:C2955 @@ -7957,9 +6487,6 @@ MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large MONDO:0024422 auditory perceptual disorders oio:hasExactSynonym oio:hasNarrowSynonym auditory perceptual disorder auditory perceptual disorder Auditory Perceptual Disorder NCIT:C84575 Auditory Perceptual Disorder MESH:D001308 auditory perceptual disorder NCIT:C84575 MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIL sil SIL NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 SIL NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIN NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 SIN NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade high grade NCIT:C14158 -MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade high grade NCIT:C14158 -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NET NCIT:C95404 Digestive System Neuroendocrine Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 GEP-NET NCIT:C95404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bulbar palsy, progressive, with sensorineural deafness bulbar palsy, progressive, with sensorineural deafness Bulbar Palsy, Progressive, with Sensorineural Deafness NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 OMIM:211530 bulbar palsy, progressive, with sensorineural deafness NCIT:C133724 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530 BVVLS1 NCIT:C133724 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 NCIT:C161005 Familial Focal Epilepsy with Variable Foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 FFEVF1 NCIT:C161005 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -7967,19 +6494,8 @@ MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasR MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD1 NCIT:C132224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024574 von Willebrand disease (hereditary or acquired) oio:hasExactSynonym oio:hasRelatedSynonym von Willebrand disease von Willebrand disease von Willebrand Disease NCIT:C68677 von Willebrand Disease von Willebrand disease NCIT:C68677 MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma NCIT:C3778 serous adenocarcinoma NCIT:C3778 -MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma NCIT:C3778 serous adenocarcinoma NCIT:C40101 -MONDO:0024647 urolithiasis oio:hasExactSynonym oio:hasBroadSynonym kidney stone kidney stone Kidney Stone NCIT:C114667 Nephrolithiasis kidney stone NCIT:C114667 -MONDO:0024674 Pancoast syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pancoast tumor Pancoast tumor Pancoast Tumor NCIT:C7527 Malignant Superior Sulcus Neoplasm MESH:D010178 Pancoast tumor NCIT:C7527 MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C27730 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C3267 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor NCIT:C27730 Wilms tumor NCIT:C3267 -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor NCIT:C27730 kidney Wilms tumor NCIT:C40407 -MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym beta cell tumor beta cell tumor Beta Cell Tumor NCIT:C3140 Pancreatic Insulin-Producing Neuroendocrine Tumor MESH:D007340 beta cell tumor NCIT:C3140 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 tenosynovial giant cell tumor NCIT:C3402 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 tenosynovial giant cell tumor NCIT:C3402 -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C3473 MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C42080 -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C42080 choroid plexus neoplasm NCIT:C8568 MONDO:0024873 clitoral carcinoma oio:hasExactSynonym oio:hasBroadSynonym clitoral cancer clitoral cancer Clitoral Cancer NCIT:C9362 Clitoral Carcinoma NCIT:C9362 clitoral cancer NCIT:C9362 MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor amyloid tumor Amyloid Tumor NCIT:C8323 Amyloid Tumor DOID:6755 amyloid tumor NCIT:C8323 MONDO:0027026 Buschke Lowenstein tumor oio:hasExactSynonym oio:hasRelatedSynonym Buschke-Lowenstein tumor Buschke-Lowenstein tumor Buschke-Lowenstein Tumor NCIT:C6371 Giant Condyloma Acuminatum MESH:D062688 Buschke-Lowenstein tumor NCIT:C6371 @@ -7997,8 +6513,6 @@ MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:h MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD7 NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618546 TTD7 NCIT:C173102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NOONAN SYNDROME 12 NOONAN SYNDROME 12 Noonan Syndrome 12 NCIT:C177120 Noonan Syndrome 12 OMIM:618624 NOONAN SYNDROME 12 NCIT:C177120 MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NS12 NCIT:C177120 Noonan Syndrome 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618624 NS12 NCIT:C177120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0042233 disseminated candidiasis oio:hasExactSynonym oio:hasRelatedSynonym invasive candidiasis invasive candidiasis Invasive Candidiasis NCIT:C116813 Invasive Candidiasis invasive candidiasis NCIT:C116813 -MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis NCIT:C26700 septic arthritis NCIT:C26699 MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis NCIT:C26700 septic arthritis NCIT:C26700 MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML oio:hasExactSynonym oio:hasNarrowSynonym GATA2 deficiency/MonoMac syndrome NCIT:C126349 GATA2 Deficiency NCIT:C126349 GATA2 deficiency/MonoMac syndrome NCIT:C126349 MONDO:0042983 neurocutaneous syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phacomatosis NCIT:C84348 Phakomatosis MESH:D020752 Phacomatosis NCIT:C84348 @@ -8011,18 +6525,11 @@ MONDO:0043544 nosocomial infection oio:hasExactSynonym oio:hasBroadSynonym HAI MONDO:0043726 multiple organ dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym MODS NCIT:C179648 Multiple Organ Dysfunction Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D009102 MODS NCIT:C179648 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044638 hypopharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the hypopharynx squamous cell carcinoma of the hypopharynx Squamous Cell Carcinoma of the Hypopharynx NCIT:C4043 Hypopharyngeal Squamous Cell Carcinoma Orphanet:494547 squamous cell carcinoma of the hypopharynx NCIT:C4043 MONDO:0044704 oropharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the oropharynx squamous cell carcinoma of the oropharynx Squamous Cell Carcinoma of the Oropharynx NCIT:C8181 Oropharyngeal Squamous Cell Carcinoma Orphanet:500478 squamous cell carcinoma of the oropharynx NCIT:C8181 -MONDO:0044788 perihilar intrahepatic cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma ONCOTREE:PHCH perihilar cholangiocarcinoma NCIT:C36077 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 carcinoma of liver and intrahepatic biliary tract NCIT:C3828 MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 liver and intrahepatic biliary tract carcinoma NCIT:C3828 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C3828 liver and intrahepatic biliary tract carcinoma NCIT:C7927 -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz nevus NCIT:C27007 Spitz Nevus OMIM:137550 spitz nevus NCIT:C27007 -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz Nevus NCIT:C27007 Spitz Nevus OMIM:137550 spitz nevus NCIT:C27007 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant Congenital Melanocytic Nevus NCIT:C4234 Giant Congenital Melanocytic Nevus GARD:0002469, Orphanet:626 giant congenital melanocytic nevus NCIT:C4234 -MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C3247 Myelodysplastic Syndrome NCIT:C68744 myelodysplastic syndrome NCIT:C3247 MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome NCIT:C68744 myelodysplastic syndrome NCIT:C68744 MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C114777 -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C3708 -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C114777 germ cell tumor NCIT:C7928 MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma NCIT:C8990 oral cavity cancer NCIT:C8990 MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 cancer of oropharynx NCIT:C9105 MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the oropharynx cancer of the oropharynx Cancer of the Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 cancer of the oropharynx NCIT:C9105 @@ -8032,17 +6539,12 @@ MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the rectum cancer of the rectum Cancer of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382 cancer of the rectum NCIT:C9382 MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma NCIT:C9382 rectal cancer NCIT:C9382 MONDO:0044983 benign lipomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm NCIT:C4502 benign tumor of adipose tissue NCIT:C4502 -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 benign osseous neoplasm NCIT:C4880 -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 benign osseous tumor NCIT:C4880 MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 benign osseous neoplasm NCIT:C6602 MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 benign osseous tumor NCIT:C6602 MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 osseous neoplasm NCIT:C6603 MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 osseous tumor NCIT:C6603 -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C9343 Bone Neoplasm NCIT:C6603 osseous neoplasm NCIT:C9343 -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C6603 osseous tumor NCIT:C9343 MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 oio:hasExactSynonym oio:hasRelatedSynonym NSLH2 NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617506 NSLH2 NCIT:C176940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 Tosti syndrome NCIT:C176939 -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasBroadSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054677 combined oxidative phosphorylation deficiency 33 oio:hasExactSynonym oio:hasRelatedSynonym COXPD33 NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617713 COXPD33 NCIT:C174440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym atopic dermatitis, elevated IgE, and eosinophilia atopic dermatitis, elevated IgE, and eosinophilia Atopic Dermatitis, Elevated IgE, and Eosinophilia NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 atopic dermatitis, elevated IgE, and eosinophilia NCIT:C176630 MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 11B with ATOPIC dermatitis immunodeficiency 11B with ATOPIC dermatitis Immunodeficiency 11B with Atopic Dermatitis NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 immunodeficiency 11B with ATOPIC dermatitis NCIT:C176630 @@ -8051,10 +6553,6 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome dopamine transporter deficiency syndrome Dopamine Transporter Deficiency Syndrome NCIT:C129866 Dopamine Transporter Deficiency Syndrome OMIM:613135 dopamine transporter deficiency syndrome NCIT:C129866 MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasBroadSynonym PKDYS NCIT:C129866 Dopamine Transporter Deficiency Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613135 PKDYS NCIT:C129866 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase I deficiency GTP cyclohydrolase I deficiency GTP Cyclohydrolase I Deficiency NCIT:C141442 GTP Cyclohydrolase I Deficiency Orphanet:2102 GTP cyclohydrolase I deficiency NCIT:C141442 -MONDO:0100249 46,XX testicular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym XX Male, Sry-positive XX Male, Sry-positive XX Male, SRY-Positive NCIT:C179867 46,XX Sex Reversal 1 OMIM:400045 XX Male, Sry-positive NCIT:C179867 -MONDO:0100250 46,XX sex reversal 1 oio:hasExactSynonym oio:hasBroadSynonym ovotesticular DSD ovotesticular DSD Ovotesticular DSD NCIT:C127167 Ovotesticular Differences of Sex Development OMIM:400045 ovotesticular DSD NCIT:C127167 -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym glioma glioma Glioma NCIT:C3059 Glioma Orphanet:182067 glioma NCIT:C3059 -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial Tumor NCIT:C3059 Glioma NCIT:C3059, DOID:3070 neuroglial tumor NCIT:C3059 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MMIH syndrome MMIH syndrome MMIH Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 MMIH syndrome NCIT:C98982 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 megacystis, microcolon, hypoperistalsis syndrome NCIT:C98982 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 megacystis, microcolon, intestinal hypoperistalsis syndrome NCIT:C98982 @@ -8067,15 +6565,7 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital Disorder of Deglycosylation NCIT:C126746 Congenital Disorder of Deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation NCIT:C126746 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym CDDG NCIT:C126746 Congenital Disorder of Deglycosylation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615273, MONDO:Lexical CDDG NCIT:C126746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with Vanishing White Matter NCIT:C122664 Leukoencephalopathy with Vanishing White Matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter NCIT:C122664 -MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency congenital mitral insufficiency Congenital Mitral Insufficiency NCIT:C197881 Congenital Mitral Insufficiency DOID:11502 congenital mitral insufficiency NCIT:C197881 -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB1 OMIM:300345 microphthalmia/coloboma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300345 MCOPCB1 OMIM:300345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome 1 zimmermann-laband syndrome 1 OMIM:135500 zimmermann-laband syndrome 1 MONDO:Lexical, OMIM:135500 Zimmermann-Laband syndrome 1 OMIM:135500 -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym ZLS1 OMIM:135500 zimmermann-laband syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135500 ZLS1 OMIM:135500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym MSSGM MSSGM mssgm OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616033, MONDO:Lexical MSSGM OMIM:616033 -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, short stature, and impaired glucose metabolism microcephaly, short stature, and impaired glucose metabolism Microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism OMIM:616033, MONDO:Lexical microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ Ullrich disease OMIM:254090 -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym oio:hasRelatedSynonym Jarcho-Levin syndrome Jarcho-Levin syndrome jarcho-levin syndrome OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, DOID:0050568 Jarcho-Levin syndrome OMIM:277300 -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym oio:hasRelatedSynonym inverted smile and occult neuropathic bladder OMIM:236730 urofacial syndrome 1 GARD:0000104 inverted smile and occult neuropathic bladder OMIM:236730 MONDO:0000723 stutter disorder oio:hasExactSynonym oio:hasNarrowSynonym stuttering, familial persistent stuttering, familial persistent Stuttering, familial persistent OMIMPS:184450 Stuttering, familial persistent OMIMPS:184450 stuttering, familial persistent OMIMPS:184450 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with neuronopathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 corpus callosum, agenesis of, with neuronopathy OMIM:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 @@ -8086,48 +6576,29 @@ MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynony MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym neurosensory nonsyndromic recessive deafness 5 OMIM:600792 deafness, autosomal recessive 5 OMIM:600792 neurosensory nonsyndromic recessive deafness 5 OMIM:600792 MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 OMIM:600792 deafness, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 DFNB5 OMIM:600792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym spherocytosis, hereditary, 2 OMIM:616649 spherocytosis, type 2 OMIM:616649 spherocytosis, hereditary, 2 OMIM:616649 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy GARD:0001049 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 1 OMIM:608520 major depressive disorder 1 OMIM:608516, OMIM:genemap2 major depressive disorder 1 OMIM:608520 -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 2 OMIM:608691 major depressive disorder 2 OMIM:608516, OMIM:genemap2 major depressive disorder 2 OMIM:608691 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome GARD:0002317, DOID:14711 Opitz-Kaveggia syndrome OMIM:305450 -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0002317 mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym oio:hasBroadSynonym hyperbilirubinemia hyperbilirubinemia Hyperbilirubinemia OMIMPS:237450 Hyperbilirubinemia DOID:2741 hyperbilirubinemia OMIMPS:237450 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome 1 jervell and lange-nielsen syndrome 1 OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400, MONDO:Lexical Jervell and Lange-Nielsen syndrome 1 OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Surdo-cardiac syndrome Surdo-cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 Surdo-cardiac syndrome OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 deafness, congenital, and functional heart disease OMIM:220400 -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma OMIM:424500 gonadoblastoma OMIM:424500 gonadoblastoma OMIM:424500 MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym GBY OMIM:424500 gonadoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:424500 GBY OMIM:424500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym tremor, hereditary essential tremor, hereditary essential Tremor, hereditary essential OMIMPS:190300 Tremor, hereditary essential OMIMPS:190300 tremor, hereditary essential OMIMPS:190300 -MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 OMIM:194070 wilms tumor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 WT1 OMIM:194070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic LYMPHOCYTIC leukemia, chronic LYMPHOCYTIC leukemia, chronic lymphocytic OMIM:151400 leukemia, chronic lymphocytic MONDO:Lexical, OMIM:151400 leukemia, chronic LYMPHOCYTIC OMIM:151400 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic lymphatic OMIM:151400 leukemia, chronic lymphocytic OMIM:151400 leukemia, chronic lymphatic OMIM:151400 MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym HIV-1, susceptibility to HIV-1, susceptibility to hiv-1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 HIV-1, susceptibility to OMIM:609423 MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus type 1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy OMIM:189800 preeclampsia/eclampsia 1 DOID:10591 toxemia of pregnancy OMIM:189800 MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia with or without an affective disorder OMIM:181500 schizophrenia OMIM:181500 schizophrenia with or without an affective disorder OMIM:181500 MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym SCZD OMIM:181500 schizophrenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181500, MONDO:Lexical SCZD OMIM:181500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 OMIM:608543 schizophrenia 12 OMIM:genemap2, OMIM:181500 schizophrenia 12 OMIM:608543 MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes OMIM:125853 type 2 diabetes mellitus OMIM:125853 maturity-onset diabetes OMIM:125853 -MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasNarrowSynonym diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 type 2 diabetes mellitus 2 OMIM:genemap2, OMIM:125853 diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder OMIM:209850 autism OMIM:209850 autistic disorder OMIM:209850 MONDO:0005298 osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, involutional OMIM:166710 osteoporosis OMIM:166710 osteoporosis, involutional OMIM:166710 MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary biliary cirrhosis, primary Biliary cirrhosis, primary OMIMPS:109720 Biliary cirrhosis, primary OMIMPS:109720 biliary cirrhosis, primary OMIMPS:109720 MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym kala-azar, susceptibility to kala-azar, susceptibility to Kala-azar, susceptibility to OMIMPS:608207 Kala-azar, susceptibility to OMIMPS:608207 kala-azar, susceptibility to OMIMPS:608207 MONDO:0005486 tooth agenesis oio:hasExactSynonym oio:hasRelatedSynonym tooth agenesis, selective tooth agenesis, selective Tooth agenesis, selective OMIMPS:106600 Tooth agenesis, selective OMIMPS:106600 tooth agenesis, selective OMIMPS:106600 -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION EXT OMIM:133700 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer OMIM:114500 colorectal cancer OMIM:114500 colon cancer OMIM:114500 MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC OMIM:114500 colorectal cancer http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical CRC OMIM:114500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005711 congenital diaphragmatic hernia oio:hasExactSynonym oio:hasBroadSynonym diaphragmatic hernia diaphragmatic hernia Diaphragmatic hernia OMIMPS:142340 Diaphragmatic hernia DOID:3827, NCIT:C34687 diaphragmatic hernia OMIMPS:142340 -MONDO:0005803 hyperinsulinemic hypoglycemia oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 DOID:13317 nesidioblastosis OMIM:601820 MONDO:0006248 hydatidiform mole oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole, recurrent hydatidiform mole, recurrent Hydatidiform mole, recurrent OMIMPS:231090 Hydatidiform mole, recurrent OMIMPS:231090 hydatidiform mole, recurrent OMIMPS:231090 MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym MESOM OMIM:156240 mesothelioma, malignant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:156240 MESOM OMIM:156240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 DOID:2352 hemochromatosis OMIM:235200 MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis DOID:2352 hemochromatosis OMIMPS:235200 MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome, autosomal dominant Aarskog syndrome, autosomal dominant aarskog syndrome, autosomal dominant OMIM:100050 aarskog syndrome, autosomal dominant OMIM:100050 Aarskog syndrome, autosomal dominant OMIM:100050 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome DOID:6683 Aarskog-Scott syndrome OMIM:305400 -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome DOID:6683 faciogenital dysplasia OMIM:305400 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism OMIM:100100 prune belly syndrome OMIM:100100 abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism OMIM:100100 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome eagle-barrett syndrome OMIM:100100 prune belly syndrome OMIM:100100 eagle-Barrett syndrome OMIM:100100 MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym PBS OMIM:100100 prune belly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100100, MONDO:Lexical PBS OMIM:100100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8227,7 +6698,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebra MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis 8 OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis 8 OMIM:105200 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial visceral OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis, familial visceral OMIM:105200 MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, systemic Nonneuropathic amyloidosis, systemic Nonneuropathic amyloidosis, systemic nonneuropathic OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 amyloidosis, systemic Nonneuropathic OMIM:105200 -MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym oio:hasRelatedSynonym hereditary amyloidosis, transthyretin-related OMIM:105210 amyloidosis, hereditary systemic 1 OMIM:105210 hereditary amyloidosis, transthyretin-related OMIM:105210 MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400 amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, familial OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400, MESH:C531617 amyotrophic lateral sclerosis 1, familial OMIM:105400 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-pDC ALS-pDC als-pdc OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 ALS-pDC OMIM:105500 @@ -8235,7 +6705,6 @@ MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:ha MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam OMIM:105500 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical FTDALS1 OMIM:105550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 MONDO:0007106 anal sphincter dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ASDP OMIM:105563 anal sphincter dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:105563 ASDP OMIM:105563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007107 anal sphincter myopathy, internal oio:hasExactSynonym oio:hasRelatedSynonym proctalgia fugax due to anal sphincter myopathy OMIM:105565 anal sphincter myopathy, internal OMIM:105565 proctalgia fugax due to anal sphincter myopathy OMIM:105565 MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym Erythroreticulosis, hereditary benign Erythroreticulosis, hereditary benign erythroreticulosis, hereditary benign OMIM:105600 anemia, congenital dyserythropoietic, type iiia OMIM:105600 Erythroreticulosis, hereditary benign OMIM:105600 @@ -8250,7 +6719,6 @@ MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 OMIM:105650 erythrogenesis imperfecta OMIM:105650 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasBroadSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650 DBA OMIM:105650 MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical DBA1 OMIM:105650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:105650 Aase-Smith syndrome 2 OMIM:612561 MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysm, intracranial berry, 1 OMIM:105800 aneurysm, intracranial berry, 1 MONDO:Lexical, OMIM:105800 aneurysm, intracranial berry, 1 OMIM:105800 MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysmal subarachnoid hemorrhage, familial OMIM:105800 aneurysm, intracranial berry, 1 OMIM:105800 aneurysmal subarachnoid hemorrhage, familial OMIM:105800 MONDO:0007112 interventricular septum aneurysm oio:hasExactSynonym oio:hasRelatedSynonym aneurysm of interventricular septum OMIM:105805 aneurysm of interventricular septum OMIM:105805 aneurysm of interventricular septum OMIM:105805 @@ -8290,17 +6758,11 @@ MONDO:0007137 isolated congenital anosmia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 MONDO:Lexical, OMIM:107250 anterior segment mesenchymal dysgenesis OMIM:107250 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 OMIM:107250 anterior segment ocular dysgenesis OMIM:107250 MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym ASGD1 OMIM:107250 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107250 ASGD1 OMIM:107250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym Townes-Brocks syndrome 1 Townes-Brocks syndrome 1 townes-brocks syndrome 1 OMIM:107480 townes-brocks syndrome 1 OMIM:107480 Townes-Brocks syndrome 1 OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and ear anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 anus, imperforate, with hand, foot, and Ear anomalies OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 OMIM:107480 renal-Ear-anal-radial syndrome OMIM:107480 -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym TBS1 OMIM:107480 townes-brocks syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107480 TBS1 OMIM:107480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym aplasia cutis congenita, nonsyndromic OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600, MONDO:Lexical aplasia cutis congenita, nonsyndromic OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital defect of skull and scalp OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 congenital defect of skull and scalp OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym scalp defect, congenital OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 scalp defect, congenital OMIM:107600 MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC OMIM:217990 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Osa Osa osa OMIM:107650 apnea, obstructive sleep OMIM:107650 Osa OMIM:107650 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym apnea, obstructive sleep OMIM:107650 apnea, obstructive sleep MESH:D020181, OMIM:107650 apnea, obstructive sleep OMIM:107650 MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym sleep apnea/hypopnea syndrome OMIM:107650 apnea, obstructive sleep OMIM:107650 sleep apnea/hypopnea syndrome OMIM:107650 @@ -8310,7 +6772,6 @@ MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:h MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriovenous malformations OMIM:108010 arteriovenous malformations of the brain OMIM:108010 cerebral arteriovenous malformations OMIM:108010 MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 arthrogryposis, distal, type 1 OMIM:108120 -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita OMIM:108120 arthrogryposis multiplex congenita OMIMPS:617468 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, GARD:0004047 arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 2B arthrogryposis, distal, type 2B arthrogryposis, distal, type 2b OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145 arthrogryposis, distal, type 2B OMIM:108145 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 5 OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, MONDO:Lexical arthrogryposis, distal, type 5 OMIM:108145 @@ -8357,7 +6818,6 @@ MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym S MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 3 OMIM:109150 machado-joseph disease OMIM:109150 spinocerebellar atrophy 3 OMIM:109150 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym gastroesophageal reflux, pediatric OMIM:109350 gastroesophageal reflux OMIM:109350 gastroesophageal reflux, pediatric OMIM:109350 MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym GER ger GER OMIM:109350 gastroesophageal reflux http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109350, MONDO:Lexical GER OMIM:109350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 basal cell nevus syndrome 1 OMIM:109400 multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 MONDO:0007188 primary basilar invagination oio:hasExactSynonym oio:hasRelatedSynonym basilar impression, primary OMIM:109500 basilar impression, primary OMIM:109500 basilar impression, primary OMIM:109500 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym B-cell malignancy, low-grade B-cell malignancy, low-grade b-cell malignancy, low-grade OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 B-cell malignancy, low-grade OMIM:109543 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym Clls2 Clls2 clls2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 Clls2 OMIM:109543 @@ -8367,8 +6827,6 @@ MONDO:0007192 beta-amino acids, renal transport of oio:hasExactSynonym oio:hasRe MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pbc Pbc pbc OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720 Pbc OMIM:109720 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720, MONDO:Lexical biliary cirrhosis, primary, 1 OMIM:109720 MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical PBC1 OMIM:109720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 OMIM:109730 aortic valve disease 1 OMIM:109730, MONDO:Lexical aortic valve disease 1 OMIM:109730 -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym AOVD1 OMIM:109730 aortic valve disease 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:109730 AOVD1 OMIM:109730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis, myopia, and ectopia lentis OMIM:110150 blepharoptosis, myopia, and ectopia lentis OMIM:110150 blepharoptosis, myopia, and ectopia lentis OMIM:110150 MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COLE-CARPENTER syndrome 1 COLE-CARPENTER syndrome 1 cole-carpenter syndrome 1 OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 COLE-CARPENTER syndrome 1 OMIM:112240 MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features OMIM:112240 @@ -8423,8 +6881,6 @@ MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym gigantomastia, juvenile OMIM:113670 hypertrophy of the breast, juvenile OMIM:113670 gigantomastia, juvenile OMIM:113670 MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym hypertrophy of the breast, juvenile OMIM:113670 hypertrophy of the breast, juvenile MONDO:Lexical, OMIM:113670 hypertrophy of the breast, juvenile OMIM:113670 MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym JHB OMIM:113670 hypertrophy of the breast, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113670 JHB OMIM:113670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma ichthyosiformis congenita of brocq OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 bullous erythroderma Ichthyosiformis congenita of Brocq OMIM:113800 -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 bullous ichthyosiform erythroderma OMIM:113800 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Cardiac conduction defect, progressive Cardiac conduction defect, progressive cardiac conduction defect, progressive OMIM:113900 progressive familial heart block, type 1a OMIM:113900 Cardiac conduction defect, progressive OMIM:113900 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease lenegre-lev disease OMIM:113900 progressive familial heart block, type 1a OMIM:113900 Lenegre-Lev disease OMIM:113900 MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym heart block, progressive familial, type 1 OMIM:113900 progressive familial heart block, type 1a OMIM:113900 heart block, progressive familial, type 1 OMIM:113900 @@ -8451,7 +6907,6 @@ MONDO:0007257 candidiasis, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 CFC syndrome OMIM:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cfcs Cfcs cfcs OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 Cfcs OMIM:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 OMIM:115150 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 CFC1 OMIM:115150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 cardiofaciocutaneous syndrome OMIMPS:115150 MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 2 OMIM:115195 cardiomyopathy, familial hypertrophic, 2 OMIM:115195, MONDO:Lexical cardiomyopathy, familial hypertrophic, 2 OMIM:115195 MONDO:0007267 hypertrophic cardiomyopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 3 OMIM:115196 cardiomyopathy, familial hypertrophic, 3 OMIM:115196, MONDO:Lexical cardiomyopathy, familial hypertrophic, 3 OMIM:115196 MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, congestive OMIM:115200 cardiomyopathy, dilated, 1a OMIM:115200 cardiomyopathy, congestive OMIM:115200 @@ -8525,7 +6980,6 @@ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oi MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Klippel-FEIL syndrome 1, autosomal dominant Klippel-FEIL syndrome 1, autosomal dominant klippel-feil syndrome 1, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 Klippel-FEIL syndrome 1, autosomal dominant OMIM:118100 MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 cervical vertebral fusion, autosomal dominant OMIM:118100 MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym KFS1 OMIM:118100 klippel-feil syndrome 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118100 KFS1 OMIM:118100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome OMIMPS:118100 Klippel-Feil syndrome NORD:1336 Klippel-Feil Syndrome OMIMPS:118100 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B OMIM:118200 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, demyelinating, type 1B Charcot-Marie-Tooth disease, demyelinating, type 1B charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200, MONDO:Lexical Charcot-Marie-Tooth disease, demyelinating, type 1B OMIM:118200 MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy charcot-marie-tooth disease, slow nerve conduction type, linked to duffy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy OMIM:118200 @@ -8556,7 +7010,6 @@ MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSyno MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym oio:hasRelatedSynonym infantile choreoathetosis of Fisher infantile choreoathetosis of Fisher infantile choreoathetosis of fisher OMIM:118750 choreoathetosis, familial inverted OMIM:118750 infantile choreoathetosis of Fisher OMIM:118750 MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1c OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 hyperlipoproteinemia, type 1C OMIM:118830 -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym oio:hasRelatedSynonym Sen syndrome Sen syndrome sen syndrome OMIM:181270 scalp-ear-nipple syndrome OMIM:215600 Sen syndrome OMIM:181270 MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym clavicle, pseudarthrosis of, congenital OMIM:118980 clavicle, pseudarthrosis of, congenital OMIM:118980 clavicle, pseudarthrosis of, congenital OMIM:118980 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym aplasia of tibia with ectrodactyly OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 aplasia of tibia with ectrodactyly OMIM:119100 MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym cleft hand and absent tibia OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 cleft hand and absent tibia OMIM:119100 @@ -8578,10 +7031,6 @@ MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cl MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym CPI OMIM:119540 cleft palate, isolated http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:119540 CPI OMIM:119540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome cpls syndrome OMIM:119550 syngnathia OMIM:119550 Cpls syndrome OMIM:119550 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia OMIM:119550 syngnathia OMIM:119550 syngnathia OMIM:119550 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Elschnig syndrome elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 Elschnig syndrome OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym clefting, ectropion, and conical teeth OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 clefting, ectropion, and conical teeth OMIM:119580 -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym CLCD CLCD clcd OMIM:119600 cleidocranial dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006118 CLCD OMIM:119600 MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800, MONDO:Lexical clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly OMIM:119800 MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym CCF OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119800, MONDO:Lexical CCF OMIM:119800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8611,7 +7060,6 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colon cancer, familial nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 colon cancer, familial nonpolyposis, type 1 OMIM:120435 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 COCA1 coca1 OMIM:120435 lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 COCA1 OMIM:120435 -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 lynch syndrome 2 OMIM:609310 lynch syndrome 2 OMIM:120435 Lynch syndrome 2 OMIM:609310 MONDO:0007360 branchiootic syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym bo syndrome 2 OMIM:120502 branchiootic syndrome 2 OMIM:120502 bo syndrome 2 OMIM:120502 MONDO:0007361 C1 inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement component 4, partial deficiency OF complement component 4, partial deficiency OF complement component 4, partial deficiency of OMIM:120790 complement component 4, partial deficiency of OMIM:120790 complement component 4, partial deficiency OF OMIM:120790 MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:120970 cone-rod dystrophy OMIM:120970 @@ -8630,7 +7078,6 @@ MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Cpx deficiency Cpx deficiency cpx deficiency OMIM:121300 coproporphyria, hereditary OMIM:121300 Cpx deficiency OMIM:121300 MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym coproporphyria, hereditary OMIM:121300 coproporphyria, hereditary OMIM:121300, MONDO:Lexical coproporphyria, hereditary OMIM:121300 MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym HCP OMIM:121300 coproporphyria, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121300 HCP OMIM:121300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Harderoporphyria harderoporphyria OMIM:618892 harderoporphyria OMIM:121300 Harderoporphyria OMIM:618892 MONDO:0007372 cornea plana 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym CNA1 OMIM:121400 cornea plana 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121400 CNA1 OMIM:121400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007373 corneal degeneration, ribbonlike, with deafness oio:hasExactSynonym oio:hasRelatedSynonym band keratopathy with deafness OMIM:121450 corneal degeneration, ribbonlike, with deafness OMIM:121450 band keratopathy with deafness OMIM:121450 MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Schnyder corneal dystrophy, Schnyder corneal dystrophy, schnyder OMIM:121800 schnyder corneal dystrophy OMIM:121800 corneal dystrophy, Schnyder OMIM:121800 @@ -8651,8 +7098,6 @@ MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 posterior polymorphous corneal dystrophy OMIM:122000 MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann epithelial corneal dystrophy, Meesmann epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, Meesmann epithelial OMIM:122100 -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, juvenile epithelial, of Meesmann OMIM:122100 MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann corneal dystrophy, Meesmann Corneal dystrophy, Meesmann OMIMPS:122100 Corneal dystrophy, Meesmann OMIM:122100, MONDO:Lexical corneal dystrophy, Meesmann OMIMPS:122100 MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, lattice type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200, GARD:0009678 corneal dystrophy, lattice type 1 OMIM:122200 MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym lattice corneal dystrophy, type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200 lattice corneal dystrophy, type 1 OMIM:122200 @@ -8670,10 +7115,8 @@ MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cdl Cdl cdl OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 Cdl OMIM:122470 MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym typus Degenerativus Amstelodamensis typus Degenerativus Amstelodamensis typus degenerativus amstelodamensis OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 typus Degenerativus Amstelodamensis OMIM:122470 MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDLS1 OMIM:122470 cornelia lange lange syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470, MONDO:Lexical CDLS1 OMIM:122470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDL Cdl CDL OMIM:126550 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470 CDL OMIM:126550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007388 congenitally short costocoracoid ligament oio:hasExactSynonym oio:hasRelatedSynonym costocoracoid ligament, congenitally short OMIM:122580 costocoracoid ligament, congenitally short OMIM:122580 costocoracoid ligament, congenitally short OMIM:122580 MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 OMIM:122600 spondylocostal dysplasia OMIM:122600 -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive NORD:1915 Spondylothoracic Dysplasia OMIM:277300 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym coumarin, poor metabolism of OMIM:122700 coumarin resistance OMIM:122700 coumarin, poor metabolism of OMIM:122700 MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance OMIM:122700 coumarin resistance OMIM:122700 warfarin resistance OMIM:122700 MONDO:0007396 dysostosis, Stanescu type oio:hasExactSynonym oio:hasRelatedSynonym craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 @@ -8724,7 +7167,6 @@ MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelat MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:genemap2, OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNA1 OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110541, OMIM:124900, MONDO:Lexical DFNA1 OMIM:124900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym oio:hasRelatedSynonym dominant optic atrophy plus syndrome OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 dominant optic atrophy plus syndrome OMIM:125250 -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym oio:hasRelatedSynonym Casil Casil casil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 OMIM:125310 Casil OMIM:125310 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption OMIM:125350 failure of tooth eruption, primary OMIM:125350 dental noneruption OMIM:125350 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym failure of tooth eruption, primary OMIM:125350 failure of tooth eruption, primary OMIM:125350, MONDO:Lexical failure of tooth eruption, primary OMIM:125350 MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym posterior Openbite malocclusion, familial posterior Openbite malocclusion, familial posterior openbite malocclusion, familial OMIM:125350 failure of tooth eruption, primary OMIM:125350 posterior Openbite malocclusion, familial OMIM:125350 @@ -8746,13 +7188,6 @@ MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:125480 bipolar affective disorder OMIM:125480 MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis OMIM:125480 major affective disorder 1 OMIM:125480 manic-depressive psychosis OMIM:125480 MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, autosomal OMIM:125480 major affective disorder 1 OMIM:125480 manic-depressive psychosis, autosomal OMIM:125480 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:125480 bipolar affective disorder OMIM:309200 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:125480 bipolar affective disorder OMIM:611247 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:125480 bipolar affective disorder OMIM:611535 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:125480 bipolar affective disorder OMIM:611536 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:125480 bipolar affective disorder OMIM:612357 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:125480 bipolar affective disorder OMIM:612371 -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:125480 bipolar affective disorder OMIM:612372 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym DGI-II DGI-II dgi-ii OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 DGI-II OMIM:125490 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta 1 OMIM:125490 dentinogenesis imperfecta 1 MONDO:Lexical, OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 @@ -8765,10 +7200,6 @@ MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasE MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, partial, unilateral OMIM:125520 cayler cardiofacial syndrome OMIM:125520 facial paresis, partial, unilateral OMIM:125520 MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR OMIM:125595 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 DPR OMIM:125595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007447 autosomal dominant vibratory urticaria oio:hasExactSynonym oio:hasBroadSynonym vibratory angioedema OMIM:125630 vibratory urticaria OMIM:193050, MONDO:0024254, MONDO:0008657 vibratory angioedema OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermodistortive urticaria Dermodistortive urticaria dermodistortive urticaria OMIM:125630 vibratory urticaria MESH:C536612 Dermodistortive urticaria OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory angioedema OMIM:125630 vibratory urticaria MESH:C536612 vibratory angioedema OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria OMIM:125630 vibratory urticaria MESH:C536612 vibratory urticaria OMIM:125630 -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym VBU OMIM:125630 vibratory urticaria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536612 VBU OMIM:125630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermatographism, familial Dermatographism, familial dermatographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 Dermatographism, familial OMIM:125635 MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 dermographism, familial OMIM:125635 MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-tooth type OMIM:125640 dermoodontodysplasia OMIM:125640 ectodermal dysplasia, hair-nail-Tooth type OMIM:125640 @@ -8790,8 +7221,6 @@ MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym alb MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym hypopigmentation OMIM:126070 dilution, pigmentary OMIM:126070 hypopigmentation OMIM:126070 MONDO:0007460 discrimination, Two-point, reduction 1N oio:hasExactSynonym oio:hasRelatedSynonym sensory discrimination OMIM:126180 discrimination, two-point, reduction 1n OMIM:126180 sensory discrimination OMIM:126180 MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome oio:hasExactSynonym oio:hasRelatedSynonym disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 disseminated sclerosis OMIM:126200 -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200 MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007463 distal osteosclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis, distal OMIM:126250 distal osteosclerosis OMIM:126250 osteosclerosis, distal OMIM:126250 MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym D1Z1 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 D1Z1 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -8800,13 +7229,7 @@ MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSyn MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym drusen, radial, autosomal dominant OMIM:126600 doyne honeycomb retinal dystrophy OMIM:126600 drusen, radial, autosomal dominant OMIM:126600 MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, cuticular OMIM:126700 basal laminar drusen OMIM:126700 drusen, cuticular OMIM:126700 MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, early adult-onset, grouped OMIM:126700 basal laminar drusen OMIM:126700 drusen, early adult-onset, grouped OMIM:126700 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 GARD:0006288, OMIM:126800 Duane anomaly OMIM:126800 -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym retraction syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 retraction syndrome OMIM:126800 MONDO:0007476 familial Dupuytren contracture oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren contracture Dupuytren contracture dupuytren contracture OMIM:126900 dupuytren contracture OMIM:126900 Dupuytren contracture OMIM:126900 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism with tall vertebrae OMIM:126950 dwarfism with tall vertebrae OMIM:126950 dwarfism with tall vertebrae OMIM:126950 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 MESH:C535314 3M syndrome OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym three M syndrome 1 three M syndrome 1 three m syndrome 1 OMIM:273750 three m syndrome 1 MESH:C535314 three M syndrome 1 OMIM:273750 -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym 3M1 OMIM:273750 three m syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535314 3M1 OMIM:273750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 Kenny syndrome OMIM:127000 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kenny-Caffey syndrome, type 2 Kenny-Caffey syndrome, type 2 kenny-caffey syndrome, type 2 OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000, MONDO:Lexical Kenny-Caffey syndrome, type 2 OMIM:127000 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 @@ -8850,10 +7273,8 @@ MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSyno MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 basan syndrome OMIM:129200, GARD:0002336 adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM:129400 rapp-hodgkin syndrome OMIM:129400 ectodermal dysplasia, anhidrotic, with cleft Lip/palate OMIM:129400 MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 OMIM:618149 orofacial cleft 8 OMIM:129400 orofacial cleft 8 OMIM:618149 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:129490 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 ECTD10A OMIM:129490 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:129490 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clouston hidrotic ectodermal dysplasia Clouston hidrotic ectodermal dysplasia clouston hidrotic ectodermal dysplasia OMIM:129500 clouston syndrome OMIM:129500 Clouston hidrotic ectodermal dysplasia OMIM:129500 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, clouston type OMIM:129500 clouston syndrome OMIM:129500 ectodermal dysplasia 2, Clouston type OMIM:129500 MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 clouston syndrome OMIM:129500 ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 @@ -8876,7 +7297,6 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VIIA, autosomal dominant Ehlers-Danlos syndrome, type VIIA, autosomal dominant ehlers-danlos syndrome, type viia, autosomal dominant OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 OMIM:130060 Ehlers-Danlos syndrome, type VIIA, autosomal dominant OMIM:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 GARD:0002084, MESH:C562625, OMIM:130060 arthrochalasis multiplex congenita OMIM:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym EDSARTH1 OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130060 EDSARTH1 OMIM:130060 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasNarrowSynonym EDS 7B EDS 7B eds 7b OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 OMIM:130060 EDS 7B OMIM:617821 MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym EDS, unspecified type EDS, unspecified type eds, unspecified type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 EDS, unspecified type OMIM:130090 MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, Friedman-Harrod type Ehlers-Danlos syndrome, Friedman-Harrod type ehlers-danlos syndrome, friedman-harrod type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 Ehlers-Danlos syndrome, Friedman-Harrod type OMIM:130090 MONDO:0007529 elastosis perforans serpiginosa oio:hasExactSynonym oio:hasRelatedSynonym Miescher elastoma Miescher elastoma miescher elastoma OMIM:130100 elastosis perforans serpiginosa OMIM:130100 Miescher elastoma OMIM:130100 @@ -8887,7 +7307,6 @@ MONDO:0007533 elliptocytosis 2 oio:hasExactSynonym oio:hasRelatedSynonym EL2 O MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym oio:hasRelatedSynonym EMG syndrome EMG syndrome emg syndrome OMIM:130650 beckwith-wiedemann syndrome OMIM:130650 EMG syndrome OMIM:130650 MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lms Lms lms OMIM:130720 lateral meningocele syndrome OMIM:130720 Lms OMIM:130720 MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMNS OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720, MONDO:Lexical LMNS OMIM:130720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomineralization type OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, hypomineralization type OMIM:130900 MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, type 3 OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 amelogenesis imperfecta, type 3 OMIM:130900 @@ -8960,7 +7379,6 @@ MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple osteochondromas OMIM:133700 exostoses, multiple, type 1 OMIM:133700 multiple osteochondromas OMIM:133700 MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 OMIM:133700 osteochondromatosis OMIM:133700 MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133700 EXT OMIM:133700 -MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type OMIM:133700 osteochondromatosis OMIM:166000 MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 OMIM:133701 exostoses, multiple, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 EXT2 OMIM:133701 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Rasmussen syndrome rasmussen syndrome OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 Rasmussen syndrome OMIM:133705 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 @@ -9001,12 +7419,6 @@ MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym HTC3 OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:135400, MONDO:Lexical HTC3 OMIM:135400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with progressive deafness OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym gingival fibromatosis with sensorineural hearing loss OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 gingival fibromatosis with sensorineural hearing loss OMIM:135550 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym Feom1 locus Feom1 locus feom1 locus OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 Feom1 locus OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis with absent eye movements OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 blepharoptosis with absent eye movements OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym fibrosis of extraocular muscles, congenital, 1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 MONDO:Lexical, OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia, congenital OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 ophthalmoplegia, congenital OMIM:135700 -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym CFEOM1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135700 CFEOM1 OMIM:135700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome Tukel syndrome tukel syndrome OMIM:609428 tukel syndrome DOID:0080143 Tukel syndrome OMIM:609428 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, duplication of, with absence of tibia and radius OMIM:135750 laurin-sandrow syndrome OMIM:135750 fibula and ulna, Duplication of, with absence of tibia and radius OMIM:135750 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror hands and feet with nasal defects OMIM:135750 laurin-sandrow syndrome OMIM:135750 mirror hands and feet with nasal defects OMIM:135750 MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly OMIM:135750 laurin-sandrow syndrome OMIM:135750 mirror-Image polydactyly OMIM:135750 @@ -9015,7 +7427,6 @@ MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome OMIM:135900 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 OMIM:135900, DOID:0070042 fifth digit syndrome OMIM:135900 MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 12 OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614562 mental retardation, autosomal dominant 12 OMIM:135900 -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 COFFIN-SIRIS syndrome OMIMPS:135900 MONDO:0007618 Eng-Strom syndrome oio:hasExactSynonym oio:hasRelatedSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia OMIM:136000 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 adermatoglyphia OMIM:136000 MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym fingerprints, absence of OMIM:136000 adermatoglyphia OMIM:136000 fingerprints, absence of OMIM:136000 @@ -9042,7 +7453,6 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal malformation OMIM:136760 frontonasal dysplasia 1 OMIM:136760 frontonasal malformation OMIM:136760 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym median Facial cleft syndrome median Facial cleft syndrome median facial cleft syndrome OMIM:136760 frontonasal dysplasia 1 OMIM:136760 median Facial cleft syndrome OMIM:136760 MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia OMIMPS:136760 Frontonasal dysplasia OMIM:136760 frontonasal dysplasia OMIMPS:136760 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, fuchs endothelial, early-onset OMIM:136800 corneal dystrophy, fuchs endothelial, 1 OMIM:136800 corneal dystrophy, Fuchs endothelial, early-onset OMIM:136800 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym FECD1 OMIM:136800 corneal dystrophy, fuchs endothelial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136800 FECD1 OMIM:136800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007638 fucosidase regulator oio:hasExactSynonym oio:hasRelatedSynonym Alpha-L-fucosidase regulator Alpha-L-fucosidase regulator alpha-l-fucosidase regulator OMIM:136830 fucosidase regulator OMIM:136830 Alpha-L-fucosidase regulator OMIM:136830 @@ -9082,13 +7492,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelat MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulocystic kidney, familial hypoplastic OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 glomerulocystic kidney, familial hypoplastic OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the young, type 5 OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 maturity-onset diabetes of the Young, type 5 OMIM:137920 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 1 OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950, MESH:C536826, MONDO:Lexical glomerulopathy with fibronectin deposits 1 OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826, GARD:0009268 glomerulopathy with giant fibrillar deposits OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym lobular glomerulopathy, familial OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826 lobular glomerulopathy, familial OMIM:137950 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND1 OMIM:137950 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137950, MESH:C536826, MONDO:Lexical, GARD:0009268 GFND1 OMIM:137950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerular nephritis, familial, with fibronectin deposits OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 glomerular nephritis, familial, with fibronectin deposits OMIM:601894 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 2 OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 glomerulopathy with fibronectin deposits 2 OMIM:601894 -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND2 OMIM:601894 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536826 GFND2 OMIM:601894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym GLOMUVENOUS malformations GLOMUVENOUS malformations glomuvenous malformations OMIM:138000 glomuvenous malformations MONDO:Lexical, OMIM:138000 GLOMUVENOUS malformations OMIM:138000 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomas, multiple OMIM:138000 glomuvenous malformations OMIM:138000 glomangiomas, multiple OMIM:138000 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, multiple OMIM:138000 glomuvenous malformations OMIM:138000 glomus tumors, multiple OMIM:138000 @@ -9137,10 +7540,8 @@ MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrom MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial OMIM:141200 hematuria, benign familial, 1 OMIM:141200, MONDO:Lexical hematuria, benign familial OMIM:141200 MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 thin membrane nephropathy OMIM:141200 MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin-basement-membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 thin-basement-membrane nephropathy OMIM:141200 -MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial hematuria, benign familial Hematuria, benign familial OMIMPS:141200 Hematuria, benign familial OMIM:141200, MONDO:Lexical hematuria, benign familial OMIMPS:141200 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial atrophy, progressive OMIM:141300 hemifacial atrophy, progressive MONDO:Lexical, OMIM:141300 hemifacial atrophy, progressive OMIM:141300 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym HFA OMIM:141300 hemifacial atrophy, progressive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:141300, MONDO:Lexical HFA OMIM:141300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA OMIM:169400 pelger-huet anomaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 PHA OMIM:169400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007711 Bencze syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia with strabismus OMIM:141350 hemifacial hyperplasia with strabismus OMIM:141350 hemifacial hyperplasia with strabismus OMIM:141350 MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Goldenhar syndrome with ipsilateral radial defect Goldenhar syndrome with ipsilateral radial defect goldenhar syndrome with ipsilateral radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 Goldenhar syndrome with ipsilateral radial defect OMIM:141400 MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Oavs with radial defect Oavs with radial defect oavs with radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 Oavs with radial defect OMIM:141400 @@ -9163,10 +7564,8 @@ MONDO:0007721 hiatus hernia oio:hasExactSynonym oio:hasRelatedSynonym hernia, hi MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 Hirschsprung disease OMIM:142623 MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 aganglionic megacolon OMIM:142623 MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym megacolon, aganglionic OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 megacolon, aganglionic OMIM:142623 -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease OMIM:142623 Hirschsprung disease OMIMPS:142623 MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 MONDO:0007725 hereditary progressive mucinous histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytosis, progressive mucinous OMIM:142630 histiocytosis, progressive mucinous OMIM:142630 histiocytosis, progressive mucinous OMIM:142630 -MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:142669, MONDO:Lexical BHD OMIM:135150 MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym Beukes hip dysplasia Beukes hip dysplasia beukes hip dysplasia OMIM:142669 beukes hip dysplasia OMIM:142669, MONDO:Lexical Beukes hip dysplasia OMIM:142669 MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym osteoarthropathy, premature degenerative, of hip OMIM:142669 beukes hip dysplasia OMIM:142669 osteoarthropathy, premature degenerative, of hip OMIM:142669 MONDO:0007727 autosomal dominant familial periodic fever oio:hasExactSynonym oio:hasRelatedSynonym periodic FEVER, familial, autosomal dominant periodic FEVER, familial, autosomal dominant periodic fever, familial, autosomal dominant OMIM:142680 periodic fever, familial, autosomal dominant OMIM:142680 periodic FEVER, familial, autosomal dominant OMIM:142680 @@ -9221,9 +7620,6 @@ MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio: MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, Vorner type palmoplantar keratoderma, Vorner type palmoplantar keratoderma, vorner type OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 palmoplantar keratoderma, Vorner type OMIM:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 tylosis OMIM:144200 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:144200 tylosis OMIM:600962 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym keratosis of Greither keratosis of Greither keratosis of greither OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 OMIM:144200 keratosis of Greither OMIM:620411 -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, epidermolytic OMIMPS:144200 Palmoplantar keratoderma, epidermolytic MONDO:Lexical, OMIM:144200 palmoplantar keratoderma, epidermolytic OMIMPS:144200 MONDO:0007759 hyperlipidemia, familial combined, LPL related oio:hasExactSynonym oio:hasRelatedSynonym familial combined hyperlipidemia OMIM:144250 hyperlipidemia, familial combined, 3 OMIM:144250 familial combined hyperlipidemia OMIM:144250 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with hyperprebetalipoproteinemia, familial OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 hyperchylomicronemia with Hyperprebetalipoproteinemia, familial OMIM:144650 MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 hyperchylomicronemia, late-onset OMIM:144650 @@ -9255,19 +7651,11 @@ MONDO:0007773 hyperproglucagonemia oio:hasExactSynonym oio:hasRelatedSynonym glu MONDO:0007774 hyperreflexia oio:hasExactSynonym oio:hasRelatedSynonym HRX OMIM:145290 hyperreflexia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145290, MONDO:Lexical HRX OMIM:145290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential OMIM:145500 hypertension, essential OMIM:145500 hypertension, essential OMIM:145500 MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym EHT EHT eht OMIM:145500 hypertension, essential http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145500 EHT OMIM:145500 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential, susceptibility to, 1 OMIM:603918 hypertension, essential, susceptibility to, 1 OMIM:145500, OMIM:genemap2 hypertension, essential, susceptibility to, 1 OMIM:603918 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 2 OMIM:604329 hypertension, essential, susceptibility to, 2 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 2 OMIM:604329 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 3 OMIM:607329 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 4 OMIM:608742 hypertension, essential, susceptibility to, 4 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 4 OMIM:608742 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 5 OMIM:610261 hypertension, essential, susceptibility to, 5 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 5 OMIM:610261 -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 6 OMIM:610262 hypertension, essential, susceptibility to, 6 OMIM:genemap2, OMIM:145500 hypertension, essential, susceptibility to, 6 OMIM:610262 MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea oio:hasExactSynonym oio:hasRelatedSynonym farmer syndrome OMIM:145590 hyperthermia, cutaneous, with headaches and nausea OMIM:145590 farmer syndrome OMIM:145590 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperpyrexia, malignant OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363 hyperpyrexia, malignant OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperthermia of anesthesia OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363, MESH:C535694 hyperthermia of anesthesia OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS MHS mhs OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145600, GARD:0003363, MESH:C535694 MHS OMIM:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS1 OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535694, GARD:0003363, MONDO:Lexical, OMIM:145600 MHS1 OMIM:145600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King syndrome King syndrome king syndrome OMIM:619542 king-denborough syndrome OMIM:145600 King syndrome OMIM:619542 -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King-Denborough syndrome King-Denborough syndrome king-denborough syndrome OMIM:619542 king-denborough syndrome OMIM:145600 King-Denborough syndrome OMIM:619542 MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650 hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone resistance, selective pituitary OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650, MONDO:Lexical thyroid hormone resistance, selective pituitary OMIM:145650 MONDO:0007785 hyperthyroxinemia, dystransthyretinemic oio:hasExactSynonym oio:hasRelatedSynonym euthryroidal hyperthyroxinemia 2 OMIM:145680 hyperthyroxinemia, dystransthyretinemic OMIM:145680 euthryroidal hyperthyroxinemia 2 OMIM:145680 @@ -9306,7 +7694,6 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE responsiveness, ATOPIC IgE responsiveness, ATOPIC ige responsiveness, atopic OMIM:147050 ige responsiveness, atopic OMIM:147050 IgE responsiveness, ATOPIC OMIM:147050 MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE, level of IgE, level of ige, level of OMIM:147050 ige responsiveness, atopic OMIM:147050 IgE, level of OMIM:147050 MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IGER OMIM:147050 ige responsiveness, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147050, MONDO:Lexical IGER OMIM:147050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome NCIT:C126342 hyper-IgE recurrent infection syndrome OMIMPS:147060 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused incisors Fused incisors fused incisors OMIM:147250 solitary median maxillary central incisor OMIM:147250 Fused incisors OMIM:147250 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym incisors, Fused incisors, Fused incisors, fused OMIM:147250 solitary median maxillary central incisor OMIM:147250 incisors, Fused OMIM:147250 MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym single central maxillary incisor OMIM:147250 solitary median maxillary central incisor OMIM:147250 single central maxillary incisor OMIM:147250 @@ -9325,19 +7712,15 @@ MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSULINOMATOSIS and diabetes mellitus INSULINOMATOSIS and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 INSULINOMATOSIS and diabetes mellitus OMIM:147630 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym Insulinomatosis and diabetes mellitus Insulinomatosis and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 Insulinomatosis and diabetes mellitus OMIM:147630 MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSDM OMIM:147630 insulinomatosis and diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147630 INSDM OMIM:147630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 NCIT:C4375 nesidioblastosis OMIM:601820 MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootoradial syndrome OMIM:147750 ivic syndrome OMIM:147750 oculootoradial syndrome OMIM:147750 MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 ivic syndrome OMIM:147750 radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 -MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 OORS OMIM:619356 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aadh syndrome Aadh syndrome aadh syndrome OMIM:147770 johnson neuroectodermal syndrome OMIM:147770 Aadh syndrome OMIM:147770 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome OMIM:147791 jacobsen syndrome OMIM:147791 chromosome 11q deletion syndrome OMIM:147791 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome OMIM:147791 jacobsen syndrome OMIM:147791 partial 11q monosomy syndrome OMIM:147791 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 1 Aase-Smith syndrome 1 aase-smith syndrome 1 OMIM:147800 aase-smith syndrome 1 OMIM:147800 Aase-Smith syndrome 1 OMIM:147800 MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Joint contractures with Other abnormalities Joint contractures with Other abnormalities joint contractures with other abnormalities OMIM:147800 aase-smith syndrome 1 OMIM:147800 Joint contractures with Other abnormalities OMIM:147800 MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICPPS OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147891 ICPPS OMIM:147891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS OMIM:184850 stiff-person syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS OMIM:184850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS Xi, formerly EDS Xi, formerly eds xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 EDS Xi, formerly OMIM:147900 MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS11, formerly EDS11, formerly eds11, formerly OMIM:147900 joint laxity, familial OMIM:147900 EDS11, formerly OMIM:147900 MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Xi, formerly Ehlers-Danlos syndrome, type Xi, formerly ehlers-danlos syndrome, type xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 Ehlers-Danlos syndrome, type Xi, formerly OMIM:147900 @@ -9347,7 +7730,6 @@ MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome Kabuki syndrome kabuki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 Kabuki syndrome OMIM:147920 MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 Niikawa-Kuroki syndrome OMIM:147920 MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KABUK1 OMIM:147920 kabuki syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147920, MONDO:Lexical KABUK1 OMIM:147920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome OMIMPS:147920 Kabuki syndrome OMIM:147920 Kabuki syndrome OMIMPS:147920 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 2 Kallmann syndrome 2 kallmann syndrome 2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia OMIM:147950 Kallmann syndrome 2 OMIM:147950 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147950, MONDO:Lexical HH2 OMIM:147950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007845 Kaposi sarcoma, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 kaposi sarcoma, susceptibility to OMIM:148000 multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 @@ -9411,7 +7793,6 @@ MONDO:0007874 trichorhinophalangeal syndrome type II oio:hasExactSynonym oio:has MONDO:0007875 Larsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym LRS OMIM:150250 larsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:150250, MONDO:Lexical LRS OMIM:150250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym Labd Labd labd OMIM:150260 laryngeal abductor paralysis OMIM:150260 Labd OMIM:150260 MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:150260 vocal cord dysfunction, familial OMIM:150260 -MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:150260 vocal cord dysfunction, familial OMIM:308850 MONDO:0007877 laryngeal adductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, adductor type OMIM:150270 laryngeal adductor paralysis OMIM:150270 vocal cord dysfunction, adductor type OMIM:150270 MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia OMIM:150280 laryngomalacia OMIM:150280 laryngomalacia OMIM:150280 MONDO:0007879 larynx atresia oio:hasExactSynonym oio:hasRelatedSynonym larynx, congenital partial atresia OF larynx, congenital partial atresia OF larynx, congenital partial atresia of OMIM:150300 larynx, congenital partial atresia of OMIM:150300 larynx, congenital partial atresia OF OMIM:150300 @@ -9510,7 +7891,6 @@ MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins-Franceschetti syndrome Treacher Collins-Franceschetti syndrome treacher collins-franceschetti syndrome OMIM:154500 treacher collins syndrome 1 OMIM:154500 Treacher Collins-Franceschetti syndrome OMIM:154500 MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis OMIM:154500 treacher collins syndrome 1 OMIM:154500 mandibulofacial dysostosis OMIM:154500 MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TCS1 OMIM:154500 treacher collins syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154500 TCS1 OMIM:154500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome OMIM:154500 Treacher Collins syndrome OMIMPS:154500 MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type oio:hasExactSynonym oio:hasRelatedSynonym phosphodiester glycoside deficiency OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese type OMIM:154570 phosphodiester glycoside deficiency OMIM:154570 MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS OMIM:154780 marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 MRSHS OMIM:154780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007951 masticatory muscles, hypertrophy of oio:hasExactSynonym oio:hasRelatedSynonym masseter muscle Hypertrophy masseter muscle Hypertrophy masseter muscle hypertrophy OMIM:154850 masticatory muscles, hypertrophy of OMIM:154850 masseter muscle Hypertrophy OMIM:154850 @@ -9527,7 +7907,6 @@ MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSy MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, familial OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, familial OMIM:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, malignant OMIM:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym CMM1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155600 CMM1 OMIM:155600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant OMIM:155600 melanoma, cutaneous malignant OMIMPS:155600 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym CMM2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155601 CMM2 OMIM:155601 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007968 melanoma tumor antigen Gp90 oio:hasExactSynonym oio:hasRelatedSynonym Class 1 unique tumor antigen of melanoma Class 1 unique tumor antigen of melanoma class 1 unique tumor antigen of melanoma OMIM:155770 melanoma tumor antigen gp90 OMIM:155770 Class 1 unique tumor antigen of melanoma OMIM:155770 MONDO:0007969 Melkersson-Rosenthal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Melkersson syndrome Melkersson syndrome melkersson syndrome OMIM:155900 melkersson-rosenthal syndrome OMIM:155900 Melkersson syndrome OMIM:155900 @@ -9565,7 +7944,6 @@ MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym biman MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/or agenesis of the corpus callosum OMIM:157600 mirror movements 1 OMIM:157600 mirror movements 1 and/Or agenesis of the corpus callosum OMIM:157600 MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements, congenital OMIM:157600 mirror movements 1 OMIM:157600 mirror movements, congenital OMIM:157600 MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym MRMV1 OMIM:157600 mirror movements 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157600, MONDO:Lexical MRMV1 OMIM:157600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008004 familial mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym mitral valve prolapse, familial OMIM:157700 mitral valve prolapse 1 MONDO:Lexical, OMIM:157700 mitral valve prolapse, familial OMIM:157700 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 cardiospondylocarpofacial syndrome OMIM:157800 mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF OMIM:157800 cardiospondylocarpofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 CSCF OMIM:157800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis OMIM:157950 permanent molars, secondary retention of OMIM:157950 dental ankylosis OMIM:157950 @@ -9598,14 +7976,11 @@ MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atroph MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant MONDO:Lexical, OMIM:158600 spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant OMIM:158600 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 -MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810, MONDO:Lexical Bethlem myopathy 1 OMIM:158810 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 GARD:0009941, OMIM:158900, MESH:C536391 Landouzy-Dejerine muscular dystrophy OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 OMIM:158900, MESH:C536391 muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasNarrowSynonym muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1a OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900, GARD:0009941 muscular dystrophy, facioscapulohumeral, type 1A OMIM:158900 MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 FSHD1 OMIM:158900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 FMD OMIM:305620 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 facioscapulohumeral muscular dystrophy OMIMPS:158900 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Fshd2, digenic Fshd2, digenic fshd2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 Fshd2, digenic OMIM:158901 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1b OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 muscular dystrophy, facioscapulohumeral, type 1B OMIM:158901 @@ -9637,8 +8012,6 @@ MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym E MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 1 OMIM:160500 myopathy, distal, 1 OMIM:160500, MONDO:Lexical myopathy, distal, 1 OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, early-onset, autosomal dominant OMIM:160500 myopathy, distal, 1 OMIM:160500 myopathy, distal, early-onset, autosomal dominant OMIM:160500 MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, late distal hereditary OMIM:160500 myopathy, distal, 1 OMIM:160500 myopathy, late distal hereditary OMIM:160500 -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate, 1 OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565, MONDO:Lexical myopathy, tubular aggregate, 1 OMIM:160565 -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565, MONDO:Lexical TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900 dystrophia myotonica 1 OMIM:160900 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900, MONDO:Lexical myotonic dystrophy 1 OMIM:160900 MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Carney Myxoma-endocrine Complex Carney Myxoma-endocrine Complex carney myxoma-endocrine complex OMIM:160980 carney complex, type 1 OMIM:160980 Carney Myxoma-endocrine Complex OMIM:160980 @@ -9677,7 +8050,6 @@ MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasR MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephritis, IgA type nephritis, IgA type nephritis, iga type OMIM:161950 iga nephropathy, susceptibility to, 1 OMIM:161950 nephritis, IgA type OMIM:161950 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasBroadSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:162000 gouty nephropathy, familial juvenile OMIM:162000 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease 2, autosomal dominant OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:603860 medullary cystic kidney disease 2, autosomal dominant OMIM:162000 -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 neurilemmomatosis, congenital cutaneous OMIM:162091 MONDO:0008076 amyotrophic neuralgia oio:hasExactSynonym oio:hasRelatedSynonym HNA OMIM:162100 amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:162100 HNA OMIM:162100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008078 neurofibromatosis, familial spinal oio:hasExactSynonym oio:hasRelatedSynonym Fsnf Fsnf fsnf OMIM:162210 neurofibromatosis, familial spinal OMIM:162210 Fsnf OMIM:162210 MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome oio:hasExactSynonym oio:hasRelatedSynonym Npdc syndrome Npdc syndrome npdc syndrome OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome OMIM:162240 Npdc syndrome OMIM:162240 @@ -9742,8 +8114,6 @@ MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Male T MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 Noonan syndrome OMIM:163950 MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turner phenotype with normal karyotype Turner phenotype with normal karyotype turner phenotype with normal karyotype OMIM:163950 noonan syndrome 1 OMIM:163950 Turner phenotype with normal karyotype OMIM:163950 MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym female pseudo-Turner syndrome female pseudo-Turner syndrome female pseudo-turner syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 female pseudo-Turner syndrome OMIM:163950 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pterygium colli syndrome OMIM:265000 multiple pterygium syndrome, escobar variant OMIM:163950 pterygium colli syndrome OMIM:265000 -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome OMIM:163950 Noonan syndrome OMIMPS:163950 MONDO:0008105 nose, anomalous shape of oio:hasExactSynonym oio:hasRelatedSynonym potato Nose potato Nose potato nose OMIM:164000 nose, anomalous shape of OMIM:164000 potato Nose OMIM:164000 MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 2, congenital, autosomal dominant NYSTAGMUS 2, congenital, autosomal dominant nystagmus 2, congenital, autosomal dominant OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100, MONDO:Lexical NYSTAGMUS 2, congenital, autosomal dominant OMIM:164100 MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Nystagmus, congenital motor, 2 Nystagmus, congenital motor, 2 nystagmus, congenital motor, 2 OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100 Nystagmus, congenital motor, 2 OMIM:164100 @@ -9762,7 +8132,6 @@ MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym oculodigitoesophagoduodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 oculodigitoesophagoduodenal syndrome OMIM:164280 MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:164280 microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome OMIMPS:164280 Feingold syndrome OMIM:164280 Feingold syndrome OMIMPS:164280 MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym odontoma-dysphagia syndrome OMIM:164330 odontoma-dysphagia syndrome OMIM:164330 odontoma-dysphagia syndrome OMIM:164330 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Menzel type OPCA Menzel type OPCA menzel type opca OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 Menzel type OPCA OMIM:164400 MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym OPCA 1 OPCA 1 opca 1 OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 OPCA 1 OMIM:164400 @@ -9839,7 +8208,6 @@ MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 buschke-ollendorff syndrome OMIM:166700 dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata OMIM:166700 buschke-ollendorff syndrome OMIM:166700 osteopathia condensans disseminata OMIM:166700 MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOS Bos BOS OMIM:166700 buschke-ollendorff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166700, MONDO:Lexical BOS OMIM:166700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bos Bos bos OMIM:605039 bohring-opitz syndrome OMIM:166700, MONDO:Lexical Bos OMIM:605039 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopoikilosis and dacryocystitis OMIM:166705 osteopoikilosis and dacryocystitis OMIM:166705 osteopoikilosis and dacryocystitis OMIM:166705 MONDO:0008160 osteosclerosis with ichthyosis and fractures oio:hasExactSynonym oio:hasRelatedSynonym cortical thickening of long bones with bowing and ichthyosis OMIM:166740 osteosclerosis with ichthyosis and fractures OMIM:166740 cortical thickening of long bones with bowing and ichthyosis OMIM:166740 MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q13 deletion syndrome OMIM:166750 otodental dysplasia OMIM:166750 chromosome 11q13 deletion syndrome OMIM:166750 @@ -9889,7 +8257,6 @@ MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelated MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HPC HPC hpc OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 HPC OMIM:167800 MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym PCTT OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:167800, MESH:C537262, MONDO:Lexical PCTT OMIM:167800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13q-related OMIM:167870 panic disorder 1 OMIM:167870 panic disorder susceptibility locus, chromosome 13Q-related OMIM:167870 -MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder panic disorder Panic disorder OMIMPS:167870 Panic disorder OMIM:167870 panic disorder OMIMPS:167870 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, familial cutaneous OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 papillomatosis, familial cutaneous OMIM:167900 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of gougerot and carteaud OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 papillomatosis, reticulated and confluent, of Gougerot and Carteaud OMIM:167900 MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym CARP carp CARP OMIM:167900 papillomatosis, confluent and reticulated http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167900 CARP OMIM:167900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -9913,7 +8280,6 @@ MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym fora MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina, symmetric OMIM:168500 parietal foramina 1 OMIM:168500 parietal foramina, symmetric OMIM:168500 MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM PFM pfm OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168500 PFM OMIM:168500 MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM1 OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168500 PFM1 OMIM:168500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina MONDO:Lexical, OMIM:168500 parietal foramina OMIMPS:168500 MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with parietal foramina OMIM:168550 parietal foramina with cleidocranial dysplasia OMIM:168550 cleidocranial dysplasia with parietal foramina OMIM:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym PFMCCD OMIM:168550 parietal foramina with cleidocranial dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168550, MONDO:Lexical PFMCCD OMIM:168550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 1, autosomal dominant Parkinson disease 1, autosomal dominant parkinson disease 1, autosomal dominant OMIM:168601 parkinson disease 1, autosomal dominant OMIM:168601, MONDO:Lexical Parkinson disease 1, autosomal dominant OMIM:168601 @@ -9938,15 +8304,11 @@ MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:ha MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, adult-onset, autosomal dominant OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:Lexical, OMIM:169500 leukodystrophy, demyelinating, ADULT-onset, autosomal dominant OMIM:169500 MONDO:0008219 pemphigus vulgaris oio:hasExactSynonym oio:hasRelatedSynonym pemphigus vulgaris, familial OMIM:169610 pemphigus vulgaris, familial OMIM:169610 pemphigus vulgaris, familial OMIM:169610 MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasRelatedSynonym periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, potassium-sensitive cardiodysrhythmic type OMIM:170390 andersen cardiodysrhythmic periodic paralysis OMIM:170390 periodic paralysis, Potassium-sensitive cardiodysrhythmic type OMIM:170390 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS OMIM:208050 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS OMIM:301050 -MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym sodium channel muscle disease OMIM:608390 myotonia, potassium-aggravated GARD:0000195 sodium channel muscle disease OMIM:608390 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, aggressive, 1 OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, juvenile OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, juvenile OMIM:170650 MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, prepubertal OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 periodontitis, prepubertal OMIM:170650 MONDO:0008230 peroxidase, salivary oio:hasExactSynonym oio:hasRelatedSynonym SAPX OMIM:170990 peroxidase, salivary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:170990 SAPX OMIM:170990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008233 pheochromocytoma oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma, susceptibility to OMIM:171300 pheochromocytoma OMIM:171300 pheochromocytoma, susceptibility to OMIM:171300 -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary OMIM:155240 thyroid carcinoma, familial medullary OMIM:171400 thyroid carcinoma, familial medullary OMIM:155240 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2a OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 multiple endocrine neoplasia, type 2A OMIM:171400 MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oio:hasExactSynonym oio:hasRelatedSynonym facioauriculoradial dysplasia OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia OMIM:171480 facioauriculoradial dysplasia OMIM:171480 @@ -9975,7 +8337,6 @@ MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroad MONDO:0008256 platelet membrane fluidity oio:hasExactSynonym oio:hasRelatedSynonym PMF OMIM:173560 platelet membrane fluidity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173560, MONDO:Lexical PMF OMIM:173560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym pneumothorax, primary spontaneous OMIM:173600 pneumothorax, primary spontaneous OMIM:173600 pneumothorax, primary spontaneous OMIM:173600 MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym PSP Psp PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173600 PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym Psp Psp psp OMIM:601104 supranuclear palsy, progressive, 1 OMIM:173600 Psp OMIM:601104 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome kindler syndrome OMIM:173650 kindler syndrome OMIM:173650 KINDLER syndrome OMIM:173650 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of kindler and weary OMIM:173650 kindler syndrome OMIM:173650 bullous acrokeratotic poikiloderma of Kindler and Weary OMIM:173650 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, weary type OMIM:173650 kindler syndrome OMIM:173650 poikiloderma, congenital, with bullae, Weary type OMIM:173650 @@ -9987,11 +8348,9 @@ MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease, adult OMIM:173900 MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult, type 1 OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease, adult, type 1 OMIM:173900 -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease MONDO:Lexical, OMIM:174050 polycystic liver disease OMIMPS:174050 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 polydactyly, postaxial OMIM:174200 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A postaxial polydactyly, type A postaxial polydactyly, type a OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 postaxial polydactyly, type A OMIM:174200 MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym PAPA1 OMIM:174200 polydactyly, postaxial, type a1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174200, MONDO:Lexical PAPA1 OMIM:174200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial polydactyly, postaxial Polydactyly, postaxial OMIMPS:174200 Polydactyly, postaxial OMIM:174200 polydactyly, postaxial OMIMPS:174200 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym Ofds 5 Ofds 5 ofds 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 Ofds 5 OMIM:174300 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 5 oral-Facial-digital syndrome, type 5 oral-facial-digital syndrome, type 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 oral-Facial-digital syndrome, type 5 OMIM:174300 MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 5 OMIM:174300 orofaciodigital syndrome 5 GARD:0004120 orofaciodigital syndrome 5 OMIM:174300 @@ -10001,9 +8360,6 @@ MONDO:0008269 polydactyly of a biphalangeal thumb oio:hasExactSynonym oio:hasRel MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly of triphalangeal thumb OMIM:174500 polydactyly, preaxial 2 OMIM:174500 polydactyly of triphalangeal thumb OMIM:174500 MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 2 OMIM:174500 polydactyly, preaxial 2 OMIM:174500 polydactyly, preaxial 2 OMIM:174500 MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polydactyly syndrome OMIM:174500 polydactyly, preaxial 2 OMIM:174500 triphalangeal thumb-polydactyly syndrome OMIM:174500 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 TPT-PS syndrome OMIM:190605 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb with polysyndactyly OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 triphalangeal thumb with polysyndactyly OMIM:190605 -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polysyndactyly syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 triphalangeal thumb-polysyndactyly syndrome OMIM:190605 MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym index finger polydactyly OMIM:174600 polydactyly, preaxial 3 OMIM:174600 index finger polydactyly OMIM:174600 MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 3 OMIM:174600 polydactyly, preaxial 3 OMIM:174600 polydactyly, preaxial 3 OMIM:174600 MONDO:0008272 polysyndactyly 4 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 4 OMIM:174700 polydactyly, preaxial 4 OMIM:174700 polydactyly, preaxial 4 OMIM:174700 @@ -10059,7 +8415,6 @@ MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym PPOX MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata OMIM:176200 variegate porphyria OMIM:176200 porphyria variegata OMIM:176200 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, South African type porphyria, South African type porphyria, south african type OMIM:176200 variegate porphyria OMIM:176200 porphyria, South African type OMIM:176200 MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym VP OMIM:176200 variegate porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007848 VP OMIM:176200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym variegate porphyria, homozygous variant OMIM:620483 variegate porphyria, childhood-onset OMIM:176200 variegate porphyria, homozygous variant OMIM:620483 MONDO:0008298 postaxial tetramelic oligodactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial oligodactyly, tetramelic OMIM:176240 postaxial oligodactyly, tetramelic OMIM:176240 postaxial oligodactyly, tetramelic OMIM:176240 MONDO:0008299 posterior column ataxia oio:hasExactSynonym oio:hasRelatedSynonym Biemond ataxia Biemond ataxia biemond ataxia OMIM:176250 posterior column ataxia OMIM:176250 Biemond ataxia OMIM:176250 MONDO:0008300 Prader-Willi syndrome oio:hasExactSynonym oio:hasRelatedSynonym PWS OMIM:176270 prader-willi syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176270, MONDO:Lexical PWS OMIM:176270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10073,7 +8428,6 @@ MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARIN MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 cerebral amyloid angiopathy, ITM2B-RELATED, 1 OMIM:176500 MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym dementia, familial British dementia, familial British dementia, familial british OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 dementia, familial British OMIM:176500 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria OMIM:176670 hutchinson-gilford progeria syndrome OMIM:176670, Orphanet:740 progeria OMIM:176670 -MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria OMIMPS:176670 Progeria OMIM:176670, Orphanet:740 progeria OMIMPS:176670 MONDO:0008311 progeria-short stature-pigmented nevi syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid short stature with pigmented nevi OMIM:176690 progeroid short stature with pigmented nevi OMIM:176690 progeroid short stature with pigmented nevi OMIM:176690 MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Habsburg jaw' 'Habsburg jaw' 'habsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 'Habsburg jaw' OMIM:176700 MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Hapsburg jaw' 'Hapsburg jaw' 'hapsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 'Hapsburg jaw' OMIM:176700 @@ -10088,7 +8442,6 @@ MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant oio: MONDO:0008318 Proteus syndrome oio:hasExactSynonym oio:hasRelatedSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 proteus syndrome OMIM:176920, MESH:C537716, GARD:0000170 gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrohepatic protoporphyria OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, GARD:0004527 erythrohepatic protoporphyria OMIM:177000 MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic OMIM:177000 -MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, erythropoietic OMIMPS:177000 Protoporphyria, erythropoietic OMIM:177000, MONDO:Lexical protoporphyria, erythropoietic OMIMPS:177000 MONDO:0008320 Protrusio acetabuli oio:hasExactSynonym oio:hasRelatedSynonym PROTRUSIO acetabuli PROTRUSIO acetabuli protrusio acetabuli OMIM:177050 protrusio acetabuli OMIM:177050 PROTRUSIO acetabuli OMIM:177050 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia OMIM:177170 spondyloepiphyseal dysplasia, Pseudoachondroplastic OMIM:177170 MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym PSACH OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:177170 PSACH OMIM:177170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10115,7 +8468,6 @@ MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiog MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP OMIM:178995 pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 PUPPP OMIM:178995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 pyloric stenosis, infantile OMIM:179010 MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 pyloric stenosis, infantile hypertrophic OMIM:179010 -MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic pyloric stenosis, infantile hypertrophic Pyloric stenosis, infantile hypertrophic OMIMPS:179010 Pyloric stenosis, infantile hypertrophic OMIM:179010 pyloric stenosis, infantile hypertrophic OMIMPS:179010 MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial RAY hypoplasia with choanal atresia radial RAY hypoplasia with choanal atresia radial ray hypoplasia with choanal atresia OMIM:179270 radial ray hypoplasia with choanal atresia OMIM:179270 radial RAY hypoplasia with choanal atresia OMIM:179270 MONDO:0008359 radio-renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial-renal syndrome OMIM:179280 radial-renal syndrome OMIM:179280 radial-renal syndrome OMIM:179280 MONDO:0008364 Raynaud disease oio:hasExactSynonym oio:hasRelatedSynonym cold fingers, hereditary OMIM:179600 raynaud disease OMIM:179600 cold fingers, hereditary OMIM:179600 @@ -10140,12 +8492,8 @@ MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone Degeneration retinal cone Degeneration retinal cone degeneration OMIM:180020 retinal cone dystrophy 1 OMIM:180020 retinal cone Degeneration OMIM:180020 MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 OMIM:180020 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 retinal cone dystrophy 1 OMIM:180020 MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCD1 OMIM:180020 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:180020 RCD1 OMIM:180020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa OMIM:268000 -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym RP OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268000, MONDO:Lexical RP OMIM:268000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa MONDO:Lexical, OMIM:268000 retinitis pigmentosa OMIMPS:268000 MONDO:0008381 dominant pericentral pigmentary retinopathy oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, pericentral pigmentary, dominant OMIM:180210 retinopathy, pericentral pigmentary, dominant OMIM:180210 retinopathy, pericentral pigmentary, dominant OMIM:180210 MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasRelatedSynonym rheumatoid arthritis, susceptibility to OMIM:180300 rheumatoid arthritis OMIM:180300 rheumatoid arthritis, susceptibility to OMIM:180300 -MONDO:0008385 rhiny oio:hasExactSynonym oio:hasRelatedSynonym craniorhiny OMIM:123050 craniorhiny OMIM:180360 craniorhiny OMIM:123050 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 1 Axenfeld-Rieger syndrome, type 1 axenfeld-rieger syndrome, type 1 OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500, MONDO:Lexical Axenfeld-Rieger syndrome, type 1 OMIM:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rgs Rgs rgs OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 Rgs OMIM:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rieg Rieg rieg OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 Rieg OMIM:180500 @@ -10202,7 +8550,6 @@ MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome shprintzen-goldberg craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212, MONDO:Lexical Shprintzen-Goldberg craniosynostosis syndrome OMIM:182212 MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212 craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym oio:hasRelatedSynonym SCE, frequency of SCE, frequency of sce, frequency of OMIM:182220 sister chromatid exchange, frequency of OMIM:182220 SCE, frequency of OMIM:182220 -MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SGMRT1 OMIM:182250 singleton-merten syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182250, MONDO:Lexical SGMRT1 OMIM:182250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell cancer of the lung OMIM:182280 small cell cancer of the lung OMIM:182280 small cell cancer of the lung OMIM:182280 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC SCLC sclc OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 SCLC OMIM:182280 MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SCLC1 SCLC1 sclc1 OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182280 SCLC1 OMIM:182280 @@ -10240,7 +8587,6 @@ MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090, MONDO:Lexical spinocerebellar ataxia 2 OMIM:183090 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, Cuban type spinocerebellar ataxia, Cuban type spinocerebellar ataxia, cuban type OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 spinocerebellar ataxia, Cuban type OMIM:183090 MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 spinocerebellar atrophy 2 OMIM:183090 -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar Degeneration with slow eye movements spinocerebellar Degeneration with slow eye movements spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements OMIM:183090 spinocerebellar Degeneration with slow eye movements OMIM:271322 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome sgfld syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 Sgfld syndrome OMIM:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion limb defect syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion limb defect syndrome OMIM:183300 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 @@ -10267,7 +8613,6 @@ MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynon MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, strudwick type OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 spondylometaepiphyseal dysplasia congenita, Strudwick type OMIM:184250 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 spondylometaphyseal dysplasia OMIM:184250 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym SEMDSTWK OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:184250 SEMDSTWK OMIM:184250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia OMIMPS:184255 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SmD, Kozlowski type SmD, Kozlowski type smd, kozlowski type OMIM:184252 spondylometaphyseal dysplasia, kozlowski type OMIM:184252 SmD, Kozlowski type OMIM:184252 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SMDK OMIM:184252 spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184252, MONDO:Lexical SMDK OMIM:184252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia, corner fracture type OMIM:184255 spondylometaphyseal dysplasia, corner fracture type OMIM:184255 spondylometaphyseal dysplasia, corner fracture type OMIM:184255 @@ -10283,7 +8628,6 @@ MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasRelatedSynony MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym polycystic ovary syndrome 1 OMIM:184700 polycystic ovary syndrome 1 OMIM:genemap2, MONDO:Lexical, OMIM:184700 polycystic ovary syndrome 1 OMIM:184700 MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym PCOS1 OMIM:184700 polycystic ovary syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184700, MONDO:Lexical PCOS1 OMIM:184700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome steinfeld syndrome OMIM:184705 steinfeld syndrome OMIM:184705 STEINFELD syndrome OMIM:184705 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS OMIM:182290 smith-magenis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 SMS OMIM:182290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome stiff-person syndrome OMIM:184850 stiff-person syndrome OMIM:184850 STIFF-PERSON syndrome OMIM:184850 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome stiff-man syndrome OMIM:184850 stiff-person syndrome OMIM:184850 Stiff-Man syndrome OMIM:184850 MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-trunk syndrome Stiff-trunk syndrome stiff-trunk syndrome OMIM:184850 stiff-person syndrome OMIM:184850 Stiff-trunk syndrome OMIM:184850 @@ -10294,8 +8638,6 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym Potassium-sodium disorder of erythrocyte Potassium-sodium disorder of erythrocyte potassium-sodium disorder of erythrocyte OMIM:185000 overhydrated hereditary stomatocytosis OMIM:185000 Potassium-sodium disorder of erythrocyte OMIM:185000 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical OHS OMIM:185000 MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHST OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000 OHST OMIM:185000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OMIM:304150 occipital horn syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical OHS OMIM:304150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008494 cryohydrocytosis oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Cardiff pseudohyperkalemia Cardiff pseudohyperkalemia cardiff OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:185020 pseudohyperkalemia Cardiff OMIM:609153 MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym storage pool platelet disease OMIM:185050 storage pool platelet disease OMIM:185050 storage pool platelet disease OMIM:185050 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Thrombocytopathy, asplenia, and miosis Thrombocytopathy, asplenia, and miosis thrombocytopathy, asplenia, and miosis OMIM:185070 stormorken syndrome OMIM:185070 Thrombocytopathy, asplenia, and miosis OMIM:185070 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym york Platelet syndrome york Platelet syndrome york platelet syndrome OMIM:185070 stormorken syndrome OMIM:185070 york Platelet syndrome OMIM:185070 @@ -10310,7 +8652,6 @@ MONDO:0008507 surface polypeptides, anonymous oio:hasExactSynonym oio:hasRelated MONDO:0008508 symphalangism, C. S. Lewis type oio:hasExactSynonym oio:hasRelatedSynonym thumbs, stiff OMIM:185650 symphalangism, c. s. lewis type OMIM:185650 thumbs, stiff OMIM:185650 MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym Sym2 Sym2 sym2 OMIM:185700 symphalangism, distal OMIM:185700 Sym2 OMIM:185700 MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym symphalangism, distal OMIM:185700 symphalangism, distal OMIM:185700 symphalangism, distal OMIM:185700 -MONDO:0008511 proximal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 hereditary absence of the proximal interphalangeal joints OMIM:185800 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sd1 Sd1 sd1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 Sd1 OMIM:185900 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q35 DUPLICATION syndrome chromosome 2q35 DUPLICATION syndrome chromosome 2q35 duplication syndrome OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 chromosome 2q35 DUPLICATION syndrome OMIM:185900 MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly, type 1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 syndactyly, type 1 OMIM:185900 @@ -10395,8 +8736,6 @@ MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome oio MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:188400 chromosome 22Q11.2 deletion syndrome OMIM:188400 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplasia of thymus and parathyroids OMIM:188400 digeorge syndrome OMIM:188400 hypoplasia of thymus and parathyroids OMIM:188400 MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym third and fourth pharyngeal pouch syndrome OMIM:188400 digeorge syndrome OMIM:188400 third and fourth pharyngeal pouch syndrome OMIM:188400 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:188400 chromosome 22Q11.2 deletion syndrome OMIM:192430 -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome OMIM:192430 velocardiofacial syndrome NCIT:C2989 velocardiofacial syndrome OMIM:192430 MONDO:0008565 familial thyroglossal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym thyroglossal duct cyst, familial OMIM:188455 thyroglossal duct cyst, familial OMIM:188455 thyroglossal duct cyst, familial OMIM:188455 MONDO:0008566 thyroid cancer, nonmedullary, 2 oio:hasExactSynonym oio:hasRelatedSynonym NMTC2 OMIM:188470 thyroid cancer, nonmedullary, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188470 NMTC2 OMIM:188470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial nonmedullary thyroid cancer, papillary OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:188550 familial nonmedullary thyroid cancer, papillary OMIM:188550 @@ -10406,8 +8745,6 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelated MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 Gthr OMIM:188570 MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 thyroid hormone unresponsiveness OMIM:188570 -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 Gthr OMIM:274300 -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 thyroid hormone unresponsiveness OMIM:274300 MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym TTPP1 OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188580, MONDO:Lexical TTPP1 OMIM:188580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym Osteochondrosis deformans tibiae, infantile Osteochondrosis deformans tibiae, infantile osteochondrosis deformans tibiae, infantile OMIM:188700 blount disease, infantile OMIM:188700 Osteochondrosis deformans tibiae, infantile OMIM:188700 MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym tibia vara, infantile OMIM:188700 blount disease, infantile OMIM:188700 tibia vara, infantile OMIM:188700 @@ -10435,7 +8772,6 @@ MONDO:0008598 trichodysplasia-xeroderma syndrome oio:hasExactSynonym oio:hasRela MONDO:0008599 trigeminal neuralgia oio:hasExactSynonym oio:hasRelatedSynonym Tic douloureux Tic douloureux tic douloureux OMIM:190400 trigeminal neuralgia OMIM:190400 Tic douloureux OMIM:190400 MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:190440 craniosynostosis, metopic OMIM:190440 MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO1 OMIM:190440 trigonocephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190440, MONDO:Lexical TRIGNO1 OMIM:190440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:190440 craniosynostosis, metopic OMIM:614485 MONDO:0008606 Say-field-Coldwell syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs and dislocation of patella OMIM:190650 triphalangeal thumbs and dislocation of patella OMIM:190650 triphalangeal thumbs and dislocation of patella OMIM:190650 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs with brachyectrodactyly OMIM:190680 triphalangeal thumbs with brachyectrodactyly OMIM:190680 triphalangeal thumbs with brachyectrodactyly OMIM:190680 MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 OMIM:190685 down syndrome OMIM:190685, Orphanet:870, NCIT:C2993 trisomy 21 OMIM:190685 @@ -10466,7 +8802,6 @@ MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MU MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uda syndrome Uda syndrome uda syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 Uda syndrome OMIM:191900 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym urticaria-deafness-amyloidosis syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 urticaria-deafness-amyloidosis syndrome OMIM:191900 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS MWS mws OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 MWS OMIM:248700 MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis OMIM:192050 MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, bifid OMIM:192100 uvula, bifid OMIM:192100 uvula, bifid OMIM:192100 MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, cleft OMIM:192100 uvula, bifid OMIM:192100 uvula, cleft OMIM:192100 @@ -10474,7 +8809,6 @@ MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varicose MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym cerebroretinal vasculopathy, hereditary OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 cerebroretinal vasculopathy, hereditary OMIM:192315 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena OMIM:192315 MONDO:0008642 VACTERL/vater association oio:hasExactSynonym oio:hasRelatedSynonym VATER/VACTERL association VATER/VACTERL association vater/vacterl association OMIM:192350 vater/vacterl association OMIM:192350 VATER/VACTERL association OMIM:192350 -MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:192430 chromosome 22Q11.2 deletion syndrome OMIM:188400 MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:192430 chromosome 22Q11.2 deletion syndrome OMIM:192430 MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome oio:hasExactSynonym oio:hasRelatedSynonym ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence OMIM:192445 MONDO:0008647 hypertrophic cardiomyopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym Cmh Cmh cmh OMIM:192600 cardiomyopathy, familial hypertrophic, 1 OMIM:192600 Cmh OMIM:192600 @@ -10547,10 +8881,8 @@ MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperka MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to red cell leak OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 pseudohyperkalemia, familial, 1, due to Red cell leak OMIM:194380 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym xerocytosis, hereditary OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 xerocytosis, hereditary OMIM:194380 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS1 OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380 DHS1 OMIM:194380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS DHS dhs OMIM:304350 deafness-hypogonadism syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380, MONDO:Lexical DHS OMIM:304350 MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym albumin binding of zinc, elevated OMIM:194470 zinc, elevated plasma OMIM:194470 albumin binding of zinc, elevated OMIM:194470 MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia, familial Dysalbuminemic hyperzincemia, familial Dysalbuminemic hyperzincemia, familial dysalbuminemic OMIM:194470 zinc, elevated plasma OMIM:194470 hyperzincemia, familial Dysalbuminemic OMIM:194470 -MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia and hypercalprotectinemia OMIM:601979 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia OMIM:194470 hyperzincemia and hypercalprotectinemia OMIM:601979 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym Bassen-Kornzweig syndrome Bassen-Kornzweig syndrome bassen-kornzweig syndrome OMIM:200100 abetalipoproteinemia OMIM:200100 Bassen-Kornzweig syndrome OMIM:200100 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym MTP deficiency MTP deficiency mtp deficiency OMIM:200100 abetalipoproteinemia OMIM:200100 MTP deficiency OMIM:200100 MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym acanthocytosis OMIM:200100 abetalipoproteinemia OMIM:200100 acanthocytosis OMIM:200100 @@ -10582,7 +8914,6 @@ MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelate MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 OMIM:genemap2, OMIM:201000 Carpenter syndrome OMIM:201000 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 OMIM:201000 acrocephalopolysyndactyly type 2 OMIM:201000 MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRPT1 OMIM:201000 carpenter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201000 CRPT1 OMIM:201000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome OMIM:genemap2, OMIM:201000 Carpenter syndrome OMIMPS:201000 MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type MONDO:Lexical, OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym Rodriguez lethal acrofacial dysostosis syndrome Rodriguez lethal acrofacial dysostosis syndrome rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 Rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of rodriguez OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 acrofacial dysostosis syndrome of Rodriguez OMIM:201170 @@ -10660,14 +8991,12 @@ MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400, GARD:0005660 aldosterone deficiency 1 OMIM:203400 MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym steroid 18-hydroxylase deficiency OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 steroid 18-hydroxylase deficiency OMIM:203400 -MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:203400 hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym ALXDRD OMIM:203450 alexander disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203450 ALXDRD OMIM:203450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym AKU aku AKU OMIM:203500 alkaptonuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203500 AKU OMIM:203500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ACD mental retardation syndrome ACD mental retardation syndrome acd mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 ACD mental retardation syndrome OMIM:203550 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Moynahan alopecia syndrome Moynahan alopecia syndrome moynahan alopecia syndrome OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 Moynahan alopecia syndrome OMIM:203600 MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of Moynahan OMIM:203600 -MONDO:0008756 alopecia - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Amr syndrome Amr syndrome amr syndrome OMIM:203650 alopecia-intellectual disability syndrome 1 OMIM:203650 Amr syndrome OMIM:203650 MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym ALUNC OMIM:203655 alopecia universalis congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203655 ALUNC OMIM:203655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis OMIM:203700 MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700, MONDO:Lexical mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM:203700 @@ -10682,7 +9011,6 @@ MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria alpha-methylacetoacetic aciduria OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 ALPHA-methylacetoacetic aciduria OMIM:203750 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 Mat deficiency OMIM:203750 MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-coa thiolase deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 mitochondrial acetoacetyl-Coa thiolase deficiency OMIM:203750 -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency OMIM:203750 Mat deficiency OMIM:250850 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym amaurosis congenita of Leber 1 amaurosis congenita of Leber 1 amaurosis congenita of leber 1 OMIM:204000 leber congenital amaurosis 1 OMIM:204000 amaurosis congenita of Leber 1 OMIM:204000 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal blindness, congenital OMIM:204000 leber congenital amaurosis 1 OMIM:204000 retinal blindness, congenital OMIM:204000 MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 LCA OMIM:204000 @@ -10723,7 +9051,6 @@ MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym iron-hand MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudo-iron-deficiency Anemia pseudo-iron-deficiency Anemia pseudo-iron-deficiency anemia OMIM:206200 iron-refractory iron deficiency anemia OMIM:206200 pseudo-iron-deficiency Anemia OMIM:206200 MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym IRIDA OMIM:206200 iron-refractory iron deficiency anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206200, MONDO:Lexical IRIDA OMIM:206200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym ANPH ANPH anph OMIM:206500 anencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206500 ANPH OMIM:206500 -MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym anencephaly anencephaly Anencephaly OMIMPS:206500 Anencephaly OMIM:206500 anencephaly OMIMPS:206500 MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipoma Microthromboticum angiolipoma Microthromboticum angiolipoma microthromboticum OMIM:206550 angiolipomatosis, familial OMIM:206550 angiolipoma Microthromboticum OMIM:206550 MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipomatosis, familial OMIM:206550 angiolipomatosis, familial OMIM:206550 angiolipomatosis, familial OMIM:206550 MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert oio:hasExactSynonym oio:hasRelatedSynonym Divry-Van Bogaert syndrome Divry-Van Bogaert syndrome divry-van bogaert syndrome OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert OMIM:206570 Divry-Van Bogaert syndrome OMIM:206570 @@ -10763,13 +9090,10 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym GACI1 OMIM:208000 arterial calcification, generalized, of infancy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208000, MONDO:Lexical GACI1 OMIM:208000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial tortuosity OMIM:208050 arterial tortuosity syndrome OMIM:208050 arterial tortuosity OMIM:208050 MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS OMIM:208050 -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS OMIM:301050 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 Arc syndrome OMIM:208085 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical ARCS1 OMIM:208085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym AMC, neurogenic type AMC, neurogenic type amc, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type OMIM:208100 AMC, neurogenic type OMIM:208100 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type MONDO:Lexical, OMIM:208100 arthrogryposis multiplex congenita, neurogenic type OMIM:208100 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 fetal akinesia sequence OMIM:208150 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome illum syndrome OMIM:208155 illum syndrome OMIM:208155 ILLUM syndrome OMIM:208155 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, whistling face, and developmental retardation OMIM:208155 illum syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:208155 arthrogryposis, whistling face, and developmental retardation OMIM:208155 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with hyperkeratosis OMIM:208158 arthrogryposis with hyperkeratosis OMIM:208158 arthrogryposis with hyperkeratosis OMIM:208158 @@ -10804,7 +9128,6 @@ MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia o MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oio:hasExactSynonym oio:hasRelatedSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 MONDO:0008846 atransferrinemia oio:hasExactSynonym oio:hasRelatedSynonym hypotransferrinemia, familial OMIM:209300 atransferrinemia OMIM:209300 hypotransferrinemia, familial OMIM:209300 MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008848 atrioventricular dissociation oio:hasExactSynonym oio:hasRelatedSynonym A-V dissociation A-V dissociation a-v dissociation OMIM:209600 atrioventricular dissociation OMIM:209600 A-V dissociation OMIM:209600 MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata OMIM:209700 Atrophodermia reticulata symmetrica faciei OMIM:209700 MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata OMIM:209700 Atrophodermia vermiculata OMIM:209700 @@ -10816,18 +9139,6 @@ MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARB MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:209885 Bss OMIM:209885 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 barber-say syndrome OMIM:209885, GARD:0000819 hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BBRSAY OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885, MONDO:Lexical BBRSAY OMIM:209885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:209885 Bss OMIM:605041 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 2 Bare lymphocyte syndrome, type 2 bare lymphocyte syndrome, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bare lymphocyte syndrome, type 2 OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group A Bare lymphocyte syndrome, type II, complementation group A bare lymphocyte syndrome, type ii, complementation group a OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group A OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 2 Bls, type 2 bls, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 Bls, type 2 OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCID, HLA Class II-negative SCID, HLA Class II-negative scid, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920, MESH:C537079 SCID, HLA Class II-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 severe combined immunodeficiency, HLA Class II-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 GARD:0000824, MESH:C537079 severe combined immunodeficiency, HLA class ii-negative OMIM:209920 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group B Bare lymphocyte syndrome, type II, complementation group B bare lymphocyte syndrome, type ii, complementation group B OMIM:620815 mhc class 2 deficiency 2 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group B OMIM:620815 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group C Bare lymphocyte syndrome, type II, complementation group C bare lymphocyte syndrome, type ii, complementation group c OMIM:620816 mhc class 2 deficiency 3 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group C OMIM:620816 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group D Bare lymphocyte syndrome, type II, complementation group D bare lymphocyte syndrome, type ii, complementation group d OMIM:620817 mhc class 2 deficiency 4 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group D OMIM:620817 -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group E Bare lymphocyte syndrome, type II, complementation group E bare lymphocyte syndrome, type ii, complementation group e OMIM:620818 mhc class 2 deficiency 5 OMIM:209920 Bare lymphocyte syndrome, type II, complementation group E OMIM:620818 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IFNGR1 deficiency, autosomal recessive IFNGR1 deficiency, autosomal recessive ifngr1 deficiency, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 IFNGR1 deficiency, autosomal recessive OMIM:209950 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27a, mycobacteriosis, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 immunodeficiency 27A, Mycobacteriosis, autosomal recessive OMIM:209950 MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A OMIM:209950 immunodeficiency 27a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical IMD27A OMIM:209950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -10853,7 +9164,6 @@ MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2 deficiency MCC2 deficiency mcc2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 MCC2 deficiency OMIM:210210 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria, type 2 OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 methylcrotonylglycinuria, type 2 OMIM:210210 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2D OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:210210 MCC2D OMIM:210210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008863 sitosterolemia oio:hasExactSynonym oio:hasRelatedSynonym STSL STSL stsl OMIM:210250 sitosterolemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210250 STSL OMIM:210250 MONDO:0008864 Biemond syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Biemond syndrome 2 Biemond syndrome 2 biemond syndrome 2 OMIM:210350 biemond syndrome 2 GARD:0000882 Biemond syndrome 2 OMIM:210350 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti crystalline dystrophy Bietti crystalline dystrophy bietti crystalline dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 Bietti crystalline dystrophy OMIM:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti tapetoretinal Degeneration with marginal corneal dystrophy Bietti tapetoretinal Degeneration with marginal corneal dystrophy bietti tapetoretinal degeneration with marginal corneal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 Bietti tapetoretinal Degeneration with marginal corneal dystrophy OMIM:210370 @@ -10883,12 +9193,8 @@ MONDO:0008882 congenital bowing of long bones oio:hasExactSynonym oio:hasRelated MONDO:0008886 Sabinas brittle hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle hair and mental Deficit brittle hair and mental Deficit brittle hair and mental deficit OMIM:211390 sabinas brittle hair syndrome OMIM:211390 brittle hair and mental Deficit OMIM:211390 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:211400 cystic fibrosis-like syndrome OMIM:211400 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym BESC1 OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211400, MONDO:Lexical BESC1 OMIM:211400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:211400 cystic fibrosis-like syndrome OMIM:613021 -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:211400 cystic fibrosis-like syndrome OMIM:613071 MONDO:0008888 Williams-Campbell syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRONCHOMALACIA BRONCHOMALACIA bronchomalacia OMIM:211450 williams-campbell syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211450 BRONCHOMALACIA OMIM:211450 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease buerger disease OMIM:211480 buerger disease OMIM:211480 BUERGER disease OMIM:211480 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 brown-vialetto-van laere syndrome 1 OMIM:211530 brown-vialetto-van laere syndrome 1 OMIM:211530, MONDO:Lexical Brown-Vialetto-Van Laere syndrome 1 OMIM:211530 -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 OMIM:211530 brown-vialetto-van laere syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530, MONDO:Lexical BVVLS1 OMIM:211530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 1 OMIM:211600 cholestasis, progressive familial intrahepatic, 1 MONDO:Lexical, OMIM:211600 cholestasis, progressive familial intrahepatic, 1 OMIM:211600 MONDO:0008893 C syndrome oio:hasExactSynonym oio:hasRelatedSynonym trigonocephaly syndrome OMIM:211750 c syndrome OMIM:211750 trigonocephaly syndrome OMIM:211750 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataract, hypertrichosis, mental retardation syndrome OMIM:211770 cahmr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:211770 cataract, hypertrichosis, mental retardation syndrome OMIM:211770 @@ -10904,7 +9210,6 @@ MONDO:0008904 camptomelic syndrome, long-limb type oio:hasExactSynonym oio:hasRe MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARD9 immunodeficiency CARD9 immunodeficiency card9 immunodeficiency OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 CARD9 immunodeficiency OMIM:212050 MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 2 OMIM:212050 immunodeficiency 103, susceptibility to fungal infections MONDO:Lexical, OMIM:212050 candidiasis, familial, 2 OMIM:212050 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:212050 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Jaeken syndrome Jaeken syndrome jaeken syndrome OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 Jaeken syndrome OMIM:212065 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type ia, formerly OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 carbohydrate-deficient glycoprotein syndrome, type Ia, formerly OMIM:212065 MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type ia OMIM:212065 congenital disorder of glycosylation, type ia MONDO:Lexical, OMIM:212065 congenital disorder of glycosylation, type Ia OMIM:212065 @@ -10928,7 +9233,6 @@ MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine transporter, plasma-Membrane, deficiency of Carnitine transporter, plasma-Membrane, deficiency of carnitine transporter, plasma-membrane, deficiency of OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 Carnitine transporter, plasma-Membrane, deficiency of OMIM:212140 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine uptake defect Carnitine uptake defect carnitine uptake defect OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 Carnitine uptake defect OMIM:212140 MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic Carnitine deficiency systemic Carnitine deficiency systemic carnitine deficiency OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 systemic Carnitine deficiency OMIM:212140 -MONDO:0008921 carnosinemia oio:hasExactSynonym oio:hasRelatedSynonym homocarnosinosis OMIM:236130 homocarnosinosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:1361 homocarnosinosis OMIM:236130 MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy and cataract OMIM:212350 sengers syndrome OMIM:212350 cardiomyopathy and cataract OMIM:212350 MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) OMIM:212350 sengers syndrome OMIM:212350 mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) OMIM:212350 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym Ppkca, Wallis type Ppkca, Wallis type ppkca, wallis type OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 OMIM:212360 Ppkca, Wallis type OMIM:212360 @@ -10965,7 +9269,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cereb MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 Joubert syndrome OMIM:213300 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 Joubert-Boltshauser syndrome OMIM:213300 MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 4 OMIM:213300 joubert syndrome 1 OMIM:213300 cerebelloparenchymal disorder 4 OMIM:213300 -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome OMIM:213300 Joubert syndrome OMIMPS:213300 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym Spinodentate atrophy Spinodentate atrophy spinodentate atrophy OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 Spinodentate atrophy OMIM:213400 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 5 OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 cerebelloparenchymal disorder 5 OMIM:213400 MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of hunt OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 dyssynergia cerebellaris myoclonica of Hunt OMIM:213400 @@ -10983,7 +9286,6 @@ MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym o MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal recessive OMIM:214300 klippel-feil syndrome 2, autosomal recessive OMIM:214300 cervical vertebral fusion, autosomal recessive OMIM:214300 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym KFS2 OMIM:214300 klippel-feil syndrome 2, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214300, MONDO:Lexical KFS2 OMIM:214300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008959 CHAND syndrome oio:hasExactSynonym oio:hasRelatedSynonym curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 chand syndrome OMIM:214350 curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness OMIM:214370 Charcot-Marie-Tooth disease and deafness OMIM:118300 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 Charcot-Marie-Tooth disease and deafness OMIM:214370 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness with Charcot-Marie-Tooth disease deafness with Charcot-Marie-Tooth disease deafness with charcot-marie-tooth disease OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 deafness with Charcot-Marie-Tooth disease OMIM:214370 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 @@ -11003,7 +9305,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym choles MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema-cholestasis syndrome OMIM:214900 cholestasis-lymphedema syndrome OMIM:214900 lymphedema-cholestasis syndrome OMIM:214900 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 4 OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950, MONDO:Lexical bile acid synthesis defect, congenital, 4 OMIM:214950 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950 cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid OMIM:214950 -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency AMACR deficiency amacr deficiency OMIM:614307 alpha-methylacyl-coa racemase deficiency Orphanet:79095 AMACR deficiency OMIM:614307 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 chondrodysplasia punctata, rhizomelic form OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodystrophia calcificans punctata OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 chondrodystrophia calcificans punctata OMIM:215100 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11016,13 +9317,10 @@ MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBG MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym chordoma, susceptibility to OMIM:215400 chordoma, susceptibility to MONDO:Lexical, OMIM:215400 chordoma, susceptibility to OMIM:215400 MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym CHDM OMIM:215400 chordoma, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215400 CHDM OMIM:215400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008981 infantile choroidocerebral calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus calcification and mental retardation OMIM:215480 choroid plexus calcification and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:215480 choroid plexus calcification and mental retardation OMIM:215480 -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500, MONDO:Lexical choroidal dystrophy, central areolar, 1 OMIM:215500 -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215500 CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008984 ciliary discoordination due to random ciliary orientation oio:hasExactSynonym oio:hasRelatedSynonym Rutland ciliary disorientation syndrome Rutland ciliary disorientation syndrome rutland ciliary disorientation syndrome OMIM:215518 ciliary discoordination due to random ciliary orientation OMIM:215518 Rutland ciliary disorientation syndrome OMIM:215518 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Citrullinuria Citrullinuria citrullinuria OMIM:215700 citrullinemia, classic OMIM:215700 Citrullinuria OMIM:215700 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, classic OMIM:215700 citrullinemia, classic OMIM:215700 citrullinemia, classic OMIM:215700 MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, type 1 OMIM:215700 citrullinemia, classic OMIM:215700 citrullinemia, type 1 OMIM:215700 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia OMIMPS:215700 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia OMIMPS:215700 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clh syndrome Clh syndrome clh syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 Clh syndrome OMIM:215850 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft-limb-heart malformation syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 MONDO:0008992 Juberg-Hayward syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft LIP/palate with abnormal thumbs and microcephaly cleft LIP/palate with abnormal thumbs and microcephaly cleft lip/palate with abnormal thumbs and microcephaly OMIM:216100 juberg-hayward syndrome OMIM:216100 cleft LIP/palate with abnormal thumbs and microcephaly OMIM:216100 @@ -11064,7 +9362,6 @@ MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular corneal dystrophy, type 1 OMIM:217800 macular dystrophy, corneal OMIM:217800 macular corneal dystrophy, type 1 OMIM:217800 MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, corneal OMIM:217800 macular dystrophy, corneal MONDO:Lexical, OMIM:217800 macular dystrophy, corneal OMIM:217800 MONDO:0009021 Toriello-Carey syndrome oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 corpus callosum, agenesis of, with facial anomalies and ROBIN sequence OMIM:217980 -MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 ACC OMIM:217990 MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym cortical blindness, retardation, and postaxial polydactyly OMIM:218010 cortical blindness, retardation, and postaxial polydactyly OMIM:218010 cortical blindness, retardation, and postaxial polydactyly OMIM:218010 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym Ame1 Ame1 ame1 OMIM:218030 apparent mineralocorticoid excess OMIM:218030 Ame1 OMIM:218030 @@ -11073,7 +9370,6 @@ MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelat MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym AME OMIM:218030 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218030 AME OMIM:218030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009026 Costello syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSTLO OMIM:218040 costello syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218040, MONDO:Lexical CSTLO OMIM:218040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 crane-heise syndrome OMIM:218090 cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome temtamy syndrome OMIM:218340 temtamy syndrome OMIM:218340 TEMTAMY syndrome OMIM:218340 MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 temtamy syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:218340 mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 @@ -11088,7 +9384,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym B MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with radial defects OMIM:218600 baller-gerold syndrome OMIM:218600 craniosynostosis with radial defects OMIM:218600 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-radial aplasia syndrome OMIM:218600 baller-gerold syndrome OMIM:218600 craniosynostosis-radial aplasia syndrome OMIM:218600 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BGS OMIM:218600 baller-gerold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218600 BGS OMIM:218600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009046 Fraser syndrome oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos with Other malformations OMIM:219000 MONDO:0009047 cryptorchidism oio:hasExactSynonym oio:hasRelatedSynonym cryptorchidism, unilateral or bilateral OMIM:219050 cryptorchidism, unilateral or bilateral OMIM:219050 cryptorchidism, unilateral or bilateral OMIM:219050 MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym oio:hasRelatedSynonym claw-like fingers and toes OMIM:219070 curved nail of fourth toe OMIM:219070 claw-like fingers and toes OMIM:219070 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous photosensitivity and colitis, lethal OMIM:219095 cutaneous photosensitivity and colitis, lethal OMIM:219095 cutaneous photosensitivity and colitis, lethal OMIM:219095 @@ -11118,7 +9413,6 @@ MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 Craniocerebellocardiac dysplasia OMIM:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym RTSC1 OMIM:220210 ritscher-schinzel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220210 RTSC1 OMIM:220210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 Ritscher-Schinzel syndrome OMIMPS:220210 MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy OMIM:220219 dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:220219 Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY OMIM:220219 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with postaxial polydactyly Dandy-Walker malformation with postaxial polydactyly dandy-walker malformation with postaxial polydactyly OMIM:220220 dandy-walker malformation with postaxial polydactyly OMIM:220220 Dandy-Walker malformation with postaxial polydactyly OMIM:220220 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 1A deafness, autosomal recessive 1A deafness, autosomal recessive 1a OMIM:220290 deafness, autosomal recessive 1a MONDO:Lexical, OMIM:220290 deafness, autosomal recessive 1A OMIM:220290 @@ -11142,9 +9436,6 @@ MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abno MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, 3 OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750, MONDO:Lexical pituitary hormone deficiency, combined, 3 OMIM:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750 pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym CPHD3 OMIM:221750 pituitary hormone deficiency, combined, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:221750, GARD:0010603, MONDO:Lexical CPHD3 OMIM:221750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym brain-bone-fat disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 brain-bone-fat disease OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, prefrontal, with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 dementia, prefrontal, with bone cysts OMIM:221770 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Francois syndrome Francois syndrome francois syndrome OMIM:221800 dermochondrocorneal dystrophy OMIM:221800 Francois syndrome OMIM:221800 MONDO:0009095 dermatoosteolysis, Kirghizian type oio:hasExactSynonym oio:hasRelatedSynonym Kirghizian Dermatoosteolysis Kirghizian Dermatoosteolysis kirghizian dermatoosteolysis OMIM:221810 dermatoosteolysis, kirghizian type OMIM:221810 Kirghizian Dermatoosteolysis OMIM:221810 MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal vasculature OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive OMIM:221900 persistent fetal vasculature OMIM:221900 @@ -11158,7 +9449,6 @@ MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diabe MONDO:0009102 diaminopentanuria oio:hasExactSynonym oio:hasRelatedSynonym cystine-lysinuria OMIM:222350 diaminopentanuria OMIM:222350 cystine-lysinuria OMIM:222350 MONDO:0009103 diaphragmatic hernia 2 oio:hasExactSynonym oio:hasRelatedSynonym DIH2 OMIM:222400 diaphragmatic hernia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222400 DIH2 OMIM:222400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria OMIM:222448 donnai-barrow syndrome OMIM:222448 diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria OMIM:222448 -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 OMIM:222470 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 THES1 OMIM:222470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD DD dd OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 DD OMIM:222600 MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DTD OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600, MONDO:Lexical DTD OMIM:222600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009108 hyperdibasic aminoaciduria type 1 oio:hasExactSynonym oio:hasRelatedSynonym dibasic amino aciduria 1 OMIM:222690 dibasic amino aciduria 1 OMIM:222690 dibasic amino aciduria 1 OMIM:222690 @@ -11210,7 +9500,6 @@ MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 Meier-Gorlin syndrome OMIM:224690 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microtia, absent patellae, micrognathia syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 microtia, absent patellae, micrognathia syndrome OMIM:224690 MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MGORS1 OMIM:224690 meier-gorlin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224690, MONDO:Lexical MGORS1 OMIM:224690 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome OMIM:224690 Meier-Gorlin syndrome OMIMPS:224690 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome schopf-schulz-passarge syndrome OMIM:224750 schopf-schulz-passarge syndrome MONDO:Lexical, OMIM:224750 SCHOPF-Schulz-Passarge syndrome OMIM:224750 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym eccrine tumors with ectodermal dysplasia OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 eccrine tumors with ectodermal dysplasia OMIM:224750 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 @@ -11218,8 +9507,6 @@ MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome oio:hasExactS MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, anhidrotic OMIM:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, hypohidrotic OMIM:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical ECTD10B OMIM:224900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, anhidrotic OMIM:614941 -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 ectodermal dysplasia, hypohidrotic OMIM:614941 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita island type OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome OMIM:225060 ectodermal dysplasia, margarita Island type OMIM:225060 @@ -11273,8 +9560,6 @@ MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSyn MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa junctionalis, progressive OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 epidermolysis bullosa Junctionalis, progressive OMIM:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa junctionalis, severe nonlethal OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 epidermolysis bullosa Junctionalis, severe Nonlethal OMIM:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym junctional epidermolysis bullosa inversa OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 junctional epidermolysis bullosa inversa OMIM:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, generalized atrophic benign OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 epidermolysis bullosa, generalized atrophic benign OMIM:619787 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, localisata variant OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 epidermolysis bullosa, junctional, Localisata variant OMIM:619787 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym MD-EBS MD-EBS md-ebs OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy OMIM:226670, GARD:0002137 MD-EBS OMIM:226670 MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa junctionalis, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 epidermolysis bullosa Junctionalis, Herlitz type OMIM:226700 MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 epidermolysis bullosa, junctional, Herlitz type OMIM:226700 @@ -11336,7 +9621,6 @@ MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:ha MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi pancytopenia, type 4 Fanconi pancytopenia, type 4 fanconi pancytopenia, type 4 OMIM:227646 fanconi anemia, complementation group d2 OMIM:227646 Fanconi pancytopenia, type 4 OMIM:227646 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a OMIM:227650 Fanconi Anemia OMIM:227650 MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A fanconi anemia, complementation group a OMIM:227650 fanconi anemia, complementation group a OMIM:227650, MONDO:Lexical Fanconi anemia, complementation group A OMIM:227650 -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia OMIMPS:227650 Fanconi anemia OMIM:227650 Fanconi Anemia OMIMPS:227650 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type glycogenosis, Fanconi type glycogenosis, fanconi type OMIM:227810 fanconi-bickel syndrome OMIM:227810 glycogenosis, Fanconi type OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with fanconi nephropathy OMIM:227810 fanconi-bickel syndrome OMIM:227810 hepatic glycogenosis with Fanconi nephropathy OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 @@ -11344,7 +9628,6 @@ MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynon MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 fanconi-bickel syndrome GARD:0002268 hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudo-phlorizin diabetes OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 pseudo-phlorizin diabetes OMIM:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:227810 fanconi-bickel syndrome http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 glycogen storage disease 11 OMIM:227810 -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 glycogen storage disease 11 OMIM:612933 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym AC deficiency AC deficiency ac deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 AC deficiency OMIM:228000 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency n-laurylsphingosine deacylase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 N-Laurylsphingosine deacylase deficiency OMIM:228000 MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym ceramidase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 ceramidase deficiency OMIM:228000 @@ -11384,9 +9667,6 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria figlu-uria OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 Figlu-Uria OMIM:229100 MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 formiminotransferase deficiency OMIM:229100 MONDO:0009241 fountain syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 fountain syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:229120 mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 OMIM:229200 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical brittle cornea syndrome 1 OMIM:229200 -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:229200 BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 OMIM:614170 brittle cornea syndrome 2 DOID:14775 brittle cornea syndrome 2 OMIM:614170 MONDO:0009243 Fraser-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 fraser-like syndrome OMIM:229230 Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Ffnd Ffnd ffnd OMIM:229400 frontofacionasal dysplasia OMIM:229400 Ffnd OMIM:229400 MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Frontofacionasal dysostosis Frontofacionasal dysostosis frontofacionasal dysostosis OMIM:229400 frontofacionasal dysplasia OMIM:229400 Frontofacionasal dysostosis OMIM:229400 @@ -11404,7 +9684,6 @@ MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedS MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency galt deficiency OMIM:230400 galactosemia 1 OMIM:230400 Galt deficiency OMIM:230400 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 galactosemia 1 OMIM:230400 galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia, classic OMIM:230400 galactosemia 1 OMIM:230400 galactosemia, classic OMIM:230400 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia OMIM:230400 galactosemia OMIMPS:230400 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Beta-galactosidase-1 deficiency beta-galactosidase-1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 Beta-galactosidase-1 deficiency OMIM:230500 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym GM1-gangliosidosis, type 1 GM1-gangliosidosis, type 1 gm1-gangliosidosis, type 1 OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 GM1-gangliosidosis, type 1 OMIM:230500 MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency glb1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 Glb1 deficiency OMIM:230500 @@ -11439,7 +9718,6 @@ MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelated MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform Mole, complete OMIM:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform mole OMIM:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym HYDM1 OMIM:231090 hydatidiform mole, recurrent, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231090, MONDO:Lexical HYDM1 OMIM:231090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:231090 hydatidiform Mole, complete OMIM:614293 MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia ghosal hematodiaphyseal dysplasia OMIM:231095 ghosal hematodiaphyseal dysplasia OMIM:231095 GHOSAL hematodiaphyseal dysplasia OMIM:231095 MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHDD OMIM:231095 ghosal hematodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231095, GARD:0010297, MONDO:Lexical GHDD OMIM:231095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym Nh Nh nh OMIM:231100 hemochromatosis, neonatal OMIM:231100 Nh OMIM:231100 @@ -11448,13 +9726,11 @@ MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym giant cell Hepatitis, formerly giant cell Hepatitis, formerly giant cell hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 giant cell Hepatitis, formerly OMIM:231100 MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym hemochromatosis, neonatal OMIM:231100 hemochromatosis, neonatal OMIM:231100 hemochromatosis, neonatal OMIM:231100 MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym neonatal Hepatitis, formerly neonatal Hepatitis, formerly neonatal hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 neonatal Hepatitis, formerly OMIM:231100 -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:209885 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency platelet glycoprotein ib deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 Platelet glycoprotein Ib deficiency OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Von Willebrand Factor receptor deficiency Von Willebrand Factor receptor deficiency von willebrand factor receptor deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 Von Willebrand Factor receptor deficiency OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 1 bleeding disorder, Platelet-type, 1 bleeding disorder, platelet-type, 1 OMIM:231200 bernard-soulier syndrome OMIM:231200 bleeding disorder, Platelet-type, 1 OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym glycoprotein Ib, Platelet, deficiency of glycoprotein Ib, Platelet, deficiency of glycoprotein ib, platelet, deficiency of OMIM:231200 bernard-soulier syndrome OMIM:231200 glycoprotein Ib, Platelet, deficiency of OMIM:231200 MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical BSS OMIM:605041 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos OMIM:231300 glaucoma 3, primary congenital, a DOID:11211, OMIM:231300 buphthalmos OMIM:231300 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma 3, primary congenital, A glaucoma 3, primary congenital, A glaucoma 3, primary congenital, a OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300, MONDO:Lexical glaucoma 3, primary congenital, A OMIM:231300 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma, congenital OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300 glaucoma, congenital OMIM:231300 @@ -11532,7 +9808,6 @@ MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym renal glucosuria OMIM:233100 renal glucosuria OMIM:233100, GARD:0007548, MONDO:Lexical renal glucosuria OMIM:233100 MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym GLYS OMIM:233100 renal glucosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:233100 GLYS OMIM:233100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009298 GOMBO syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 gombo syndrome OMIM:233270 Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 -MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym XX gonadal dysgenesis XX gonadal dysgenesis xx gonadal dysgenesis OMIM:233300 ovarian dysgenesis 1 OMIM:233300 XX gonadal dysgenesis OMIM:233300 MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis ovarian dysgenesis Ovarian dysgenesis OMIMPS:233300 Ovarian dysgenesis OMIMPS:233300 ovarian dysgenesis OMIMPS:233300 MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym gonadal dysgenesis, 20 type, with deafness OMIM:233400 perrault syndrome 1 OMIM:233400 gonadal dysgenesis, 20 type, with deafness OMIM:233400 MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis with sensorineural deafness OMIM:233400 perrault syndrome 1 OMIM:233400 ovarian dysgenesis with sensorineural deafness OMIM:233400 @@ -11580,7 +9855,6 @@ MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 oio:hasE MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lymphatic dysplasia, generalized OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 lymphatic dysplasia, generalized OMIM:235510 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HKLLS1 OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:235510 HKLLS1 OMIM:235510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym hepatic venoocclusive disease with immunodeficiency OMIM:235550 hepatic venoocclusive disease with immunodeficiency OMIM:235550, MONDO:Lexical hepatic venoocclusive disease with immunodeficiency OMIM:235550 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym VODI OMIM:235550 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537257, MONDO:Lexical, OMIM:235550, GARD:0010083 VODI OMIM:235550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009339 congenital bile acid synthesis defect 2 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 2 OMIM:235555 bile acid synthesis defect, congenital, 2 OMIM:235555, MONDO:Lexical bile acid synthesis defect, congenital, 2 OMIM:235555 @@ -11607,7 +9881,6 @@ MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficie MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym methylcobalamin deficiency, cblE type methylcobalamin deficiency, cblE type methylcobalamin deficiency, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 methylcobalamin deficiency, cblE type OMIM:236270 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type vitamin B12-responsive homocystinuria, cblE type vitamin b12-responsive homocystinuria, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 vitamin B12-responsive homocystinuria, cblE type OMIM:236270 MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE OMIM:236270 homocystinuria-megaloblastic anemia, cble type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 HMAE OMIM:236270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:143050 MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:236400 MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cond OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome OMIM:236450 cond OMIM:236450 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly OMIM:236500 @@ -11627,7 +9900,6 @@ MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670, MONDO:Lexical muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM:236670 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 MDDGA1 OMIM:236670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical HLS1 OMIM:236680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome hydrolethalus syndrome Hydrolethalus syndrome OMIMPS:236680 Hydrolethalus syndrome OMIM:genemap2, OMIM:236680 hydrolethalus syndrome OMIMPS:236680 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 MCKUSICK-Kaufman syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 hydrometrocolpos syndrome OMIM:236700 MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 mckusick-kaufman syndrome OMIM:236700 hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 @@ -11639,7 +9911,6 @@ MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 OMIM:236730 urofacial syndrome OMIM:236730 MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome 1 OMIM:236730 urofacial syndrome 1 OMIM:236730, MONDO:Lexical urofacial syndrome 1 OMIM:236730 MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym UFS1 OMIM:236730 urofacial syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236730, MONDO:Lexical UFS1 OMIM:236730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome OMIM:236730 urofacial syndrome OMIMPS:236730 MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym hydrops fetalis, nonimmune OMIM:236750 hydrops fetalis, nonimmune OMIM:236750, MONDO:Lexical hydrops fetalis, nonimmune OMIM:236750 MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym NIHF OMIM:236750 hydrops fetalis, nonimmune http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236750 NIHF OMIM:236750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009370 L-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym L2HGA OMIM:236792 l-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236792, MONDO:Lexical L2HGA OMIM:236792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11683,7 +9954,6 @@ MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym L-lysine: MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 1 OMIM:238700 hyperlysinemia, type 1 OMIM:238700 hyperlysinemia, type 1 OMIM:238700 MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine intolerance OMIM:238700 hyperlysinemia, type 1 OMIM:238700 lysine intolerance OMIM:238700 MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine:Alpha-ketoglutarate reductase deficiency lysine:Alpha-ketoglutarate reductase deficiency lysine:alpha-ketoglutarate reductase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:238700 lysine:Alpha-ketoglutarate reductase deficiency OMIM:238700 -MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:238700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 MONDO:0009390 hyperlysinuria with hyperammonemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, periodic OMIM:238750 hyperlysinuria with hyperammonemia OMIM:238750 hyperlysinemia, periodic OMIM:238750 MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome hhh syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 Hhh syndrome OMIM:238970 MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 @@ -11762,13 +10032,10 @@ MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oi MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly OMIM:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosis, congenital, autosomal recessive 2 MONDO:Lexical, OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242100 collodion baby, self-healing OMIM:242300 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242100 collodion baby, self-healing OMIM:606545 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Desmons syndrome Desmons syndrome desmons syndrome OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 Desmons syndrome OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym KID syndrome, autosomal recessive KID syndrome, autosomal recessive kid syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 KID syndrome, autosomal recessive OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasNarrowSynonym ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242300 collodion baby, self-healing OMIM:242100 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 collodion baby, self-healing OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion fetus OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 collodion fetus OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym desquamation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300, GARD:0003170 desquamation of newborn OMIM:242300 @@ -11778,7 +10045,6 @@ MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oi MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 1, formerly OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 ichthyosis, lamellar, 1, formerly OMIM:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym lamellar exfoliation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 lamellar exfoliation of newborn OMIM:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242300 collodion baby, self-healing OMIM:606545 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym 'Harlequin fetus' 'Harlequin fetus' 'harlequin fetus' OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 'Harlequin fetus' OMIM:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis congenita, Harlequin fetus type ichthyosis congenita, Harlequin fetus type ichthyosis congenita, harlequin fetus type OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 ichthyosis congenita, Harlequin fetus type OMIM:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4b OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500, MONDO:Lexical ichthyosis, congenital, autosomal recessive 4B OMIM:242500 @@ -11811,7 +10077,6 @@ MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome oi MONDO:0009468 pseudotumor cerebri oio:hasExactSynonym oio:hasRelatedSynonym intracranial hypertension, idiopathic OMIM:243200 intracranial hypertension, idiopathic OMIM:243200 intracranial hypertension, idiopathic OMIM:243200 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Summerskill syndrome Summerskill syndrome summerskill syndrome OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 GARD:0010028, OMIM:243300 Summerskill syndrome OMIM:243300 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 OMIM:243300, MONDO:Lexical cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasBroadSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic OMIM:genemap2, OMIM:243300 cholestasis, benign recurrent intrahepatic OMIMPS:243300 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 baraitser-winter syndrome 1 OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 Baraitser-WINTER syndrome 1 OMIM:243310 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculofacial lymphatic syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 cerebrooculofacial lymphatic syndrome OMIM:243310 MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7P22 deletion syndrome chromosome 7P22 deletion syndrome chromosome 7p22 deletion syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 chromosome 7P22 deletion syndrome OMIM:243310 @@ -11837,10 +10102,8 @@ MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome with bilateral chorioretinal coloboma Joubert syndrome with bilateral chorioretinal coloboma joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 arima syndrome GARD:0009455, OMIM:243910 Joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculohepatorenal syndrome OMIM:243910 arima syndrome OMIM:243910 cerebrooculohepatorenal syndrome OMIM:243910 MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 arima syndrome OMIM:243910 coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 -MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 5 Joubert syndrome 5 joubert syndrome 5 OMIM:610188 joubert syndrome 5 GARD:0009455 Joubert syndrome 5 OMIM:610188 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH3 OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:244200 HH3 OMIM:244200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym oio:hasRelatedSynonym long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft lip/palate and eye, heart, and intestinal anomalies OMIM:244300 kapur-toriello syndrome OMIM:244300 long columella with cleft Lip/palate and eye, heart, and intestinal anomalies OMIM:244300 -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244400 PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 Polynesian bronchiectasis OMIM:244400 MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1 OMIM:244400 ciliary dyskinesia, primary, 1 MONDO:Lexical, OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 @@ -11885,11 +10148,8 @@ MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactS MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis, fatal infantile, formerly OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 lactic acidosis, fatal infantile, formerly OMIM:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400, MONDO:Lexical mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS9 OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:245400 MTDPS9 OMIM:245400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 lactoferrin-deficient neutrophils OMIM:245480 -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 neutrophil lactoferrin deficiency OMIM:245480 MONDO:0009507 Lambert syndrome oio:hasExactSynonym oio:hasRelatedSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 lambert syndrome OMIM:245550 branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 MONDO:0009508 Lambotte syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine growth retardation OMIM:245552 lambotte syndrome OMIM:245552 microcephaly, holoprosencephaly, and intrauterine Growth retardation OMIM:245552 -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes OMIM:117100 centralopathic epilepsy OMIM:245570 benign epilepsy of childhood with centrotemporal spikes OMIM:117100 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym aphasia, acquired, with epilepsy OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 aphasia, acquired, with epilepsy OMIM:245570 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym FESD OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 FESD OMIM:245570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11910,7 +10170,6 @@ MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRel MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency hmg-coa lyase deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 HMG-Coa lyase deficiency OMIM:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym Hmgcl deficiency Hmgcl deficiency hmgcl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 Hmgcl deficiency OMIM:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMGCLD OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:246450 HMGCLD OMIM:246450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:246450 HL deficiency OMIM:614025 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 limb defects, distal transverse, with impaired intellectual development and spasticity http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym Shsf3 Shsf3 shsf3 OMIM:246560 split-hand/foot malformation 3 OMIM:246560 Shsf3 OMIM:246560 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 10Q24 Duplication syndrome chromosome 10Q24 Duplication syndrome chromosome 10q24 duplication syndrome OMIM:246560 split-hand/foot malformation 3 OMIM:246560 chromosome 10Q24 Duplication syndrome OMIM:246560 @@ -11966,13 +10225,6 @@ MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSA MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal OMIM:248510 lysosomal Beta-mannosidase deficiency OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym mannosidosis, BETA A, lysosomal mannosidosis, BETA A, lysosomal mannosidosis, beta a, lysosomal OMIM:248510 mannosidosis, beta a, lysosomal MONDO:Lexical, OMIM:248510 mannosidosis, BETA A, lysosomal OMIM:248510 MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSB OMIM:248510 mannosidosis, beta a, lysosomal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248510, MONDO:Lexical MANSB OMIM:248510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency OMIM:246900 dihydrolipoamide dehydrogenase deficiency DOID:9269, OMIM:246900 dihydrolipoamide dehydrogenase deficiency OMIM:246900 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym Keto acid decarboxylase deficiency Keto acid decarboxylase deficiency keto acid decarboxylase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 Keto acid decarboxylase deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain alpha-keto acid dehydrogenase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 branched-chain Alpha-Keto acid dehydrogenase deficiency OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1A maple syrup urine disease, type 1A maple syrup urine disease, type 1a OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 maple syrup urine disease, type 1A OMIM:248600 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1B maple syrup urine disease, type 1B maple syrup urine disease, type 1b OMIM:620698 maple syrup urine disease, type 1b OMIM:248600 maple syrup urine disease, type 1B OMIM:620698 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 2 OMIM:620699 maple syrup urine disease, type 2 OMIM:248600 maple syrup urine disease, type 2 OMIM:620699 -MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS Mws MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248700 MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome OMIM:248700 MARDEN-WALKER syndrome OMIM:248700 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mws Mws mws OMIM:248700 marden-walker syndrome OMIM:248700 Mws OMIM:248700 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWKS OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:248700 MWKS OMIM:248700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -11986,7 +10238,6 @@ MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome Meckel syndrome meckel syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Meckel syndrome OMIM:249000 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Meckel-Gruber syndrome OMIM:249000 MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mes Mes mes OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 Mes OMIM:249000 -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome OMIMPS:249000 Meckel syndrome MESH:C536133, OMIM:249000 Meckel syndrome OMIMPS:249000 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial MEDITERRANEAN FEVER familial MEDITERRANEAN FEVER familial mediterranean fever OMIM:249100 familial mediterranean fever OMIM:249100 familial MEDITERRANEAN FEVER OMIM:249100 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial Mediterranean fever familial Mediterranean fever familial mediterranean fever OMIM:249100 familial mediterranean fever MONDO:Lexical, OMIM:249100 familial Mediterranean fever OMIM:249100 MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym polyserositis, familial paroxysmal OMIM:249100 familial mediterranean fever OMIM:249100 polyserositis, familial paroxysmal OMIM:249100 @@ -12102,9 +10353,6 @@ MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 MONDO:Lexical, OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251270 MCCRP1 OMIM:251270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM:251280 microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 GARD:0000065, OMIM:251300 microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 galloway-mowat syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:251300 cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 OMIM:251450 desbuquois syndrome OMIM:251450 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 OMIM:251450 micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBQD1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251450 DBQD1 OMIM:251450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12114,7 +10362,6 @@ MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:251600 anophthalmia, clinical, isolated OMIM:251600 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 1 OMIM:251600 microphthalmia, isolated 1 OMIM:251600, MONDO:Lexical microphthalmia, isolated 1 OMIM:251600 MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmos, autosomal recessive OMIM:251600 microphthalmia, isolated 1 OMIM:251600 microphthalmos, autosomal recessive OMIM:251600 -MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:251600 anophthalmia, clinical, isolated OMIM:610093 MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma oio:hasExactSynonym oio:hasRelatedSynonym MSPKA OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:251750, MONDO:Lexical MSPKA OMIM:251750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte brush-border abnormalities OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis OMIM:251850 congenital familial protracted diarrhea with enterocyte Brush-border abnormalities OMIM:251850 MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 2, with microvillus atrophy OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis MONDO:Lexical, OMIM:251850 diarrhea 2, with microvillus atrophy OMIM:251850 @@ -12132,7 +10379,6 @@ MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome oio:hasExactSyno MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease Moyamoya disease moyamoya disease OMIM:252350 moyamoya disease 1 OMIM:252350 Moyamoya disease OMIM:252350 MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease 1 Moyamoya disease 1 moyamoya disease 1 OMIM:252350 moyamoya disease 1 OMIM:252350, MONDO:Lexical Moyamoya disease 1 OMIM:252350 MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of willis OMIM:252350 moyamoya disease 1 OMIM:252350 spontaneous occlusion of the circle of Willis OMIM:252350 -MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease OMIMPS:252350 Moyamoya disease OMIM:252350 Moyamoya disease OMIMPS:252350 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym ML 2 Alpha/Beta ML 2 Alpha/Beta ml 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 ML 2 Alpha/Beta OMIM:252500 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 OMIM:252500 MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 @@ -12212,11 +10458,8 @@ MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:h MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy ullrich congenital muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 Ullrich congenital muscular dystrophy OMIM:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 Ullrich disease OMIM:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Scleroatonic muscular dystrophy, Scleroatonic muscular dystrophy, scleroatonic OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 muscular dystrophy, Scleroatonic OMIM:254090 -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy OMIMPS:254090 Ullrich congenital muscular dystrophy OMIM:254090 Ullrich congenital muscular dystrophy OMIMPS:254090 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Hutterite type muscular dystrophy, Hutterite type muscular dystrophy, hutterite type OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110 muscular dystrophy, Hutterite type OMIM:254110 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2h OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110, MONDO:Lexical muscular dystrophy, limb-girdle, type 2H OMIM:254110 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical Miyoshi muscular dystrophy 1 OMIM:254130 -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 OMIM:254130 miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 MMD1 OMIM:254130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009688 myasthenia gravis oio:hasExactSynonym oio:hasRelatedSynonym MG OMIM:254200 myasthenia gravis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254200, MONDO:Lexical MG OMIM:254200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2, formerly CMS Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759 CMS Ia2, formerly OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ia2, formerly Cms Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 Cms Ia2, formerly OMIM:254210 @@ -12225,22 +10468,15 @@ MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelate MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, familial infantile, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, MESH:C535759 myasthenia, familial infantile, formerly OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759, OMIM:254210, MONDO:Lexical myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, GARD:0009689, MESH:C535759 myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 CMS1A OMIM:601462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ib, formerly Cms Ib, formerly cms ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 Cms Ib, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 congenital myasthenic syndrome type IB, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, limb-girdle, familial, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 myasthenia, limb-girdle, familial, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic myopathy, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 myasthenic myopathy, formerly OMIM:254300 MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 10 OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300, MONDO:Lexical myasthenic syndrome, congenital, 10 OMIM:254300 -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 CMS1B OMIM:608930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis OMIM:254450 myelofibrosis OMIM:254450 myelofibrosis OMIM:254450 MONDO:0009694 myeloperoxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPOD OMIM:254600 myeloperoxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254600, MONDO:Lexical MPOD OMIM:254600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome Janz syndrome janz syndrome OMIM:254770 epilepsy, myoclonic juvenile DOID:4890, OMIM:254770 Janz syndrome OMIM:254770 MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym petit mal, impulsive OMIM:254770 epilepsy, myoclonic juvenile OMIM:254770 petit mal, impulsive OMIM:254770 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Epm2 Epm2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Epm2 OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Lafora body disease Lafora body disease lafora body disease OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Lafora body disease OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Melf Melf melf OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 Melf OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2a OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 epilepsy, progressive myoclonic, 2A OMIM:254780 -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2b OMIM:620681 myoclonic epilepsy of lafora 2 OMIM:254780 epilepsy, progressive myoclonic, 2B OMIM:620681 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Baltic myoclonic epilepsy Baltic myoclonic epilepsy baltic myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 Baltic myoclonic epilepsy OMIM:254800 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uld Uld uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 Uld OMIM:254800 MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 1 OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 epilepsy, progressive myoclonic, 1 OMIM:254800 @@ -12300,16 +10536,12 @@ MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical HHF1 OMIM:256450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 hyperinsulinism, congenital OMIM:601820 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Comel-Netherton syndrome Comel-Netherton syndrome comel-netherton syndrome OMIM:256500 netherton syndrome OMIM:256500 Comel-Netherton syndrome OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease Netherton disease netherton disease OMIM:256500 netherton syndrome OMIM:256500 Netherton disease OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-ige OMIM:256500 netherton syndrome OMIM:256500 erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE OMIM:256500 MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym NETH neth NETH OMIM:256500 netherton syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256500 NETH OMIM:256500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Neu-Laxova syndrome neu-laxova syndrome OMIM:256520 neu-laxova syndrome 1 OMIM:256520 Neu-Laxova syndrome OMIM:256520 MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym NLS1 OMIM:256520 neu-laxova syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256520, MONDO:Lexical NLS1 OMIM:256520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome OMIMPS:256520 Neu-Laxova syndrome OMIM:256520 Neu-Laxova syndrome OMIMPS:256520 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym PPCA deficiency PPCA deficiency ppca deficiency OMIM:256540 galactosialidosis OMIM:256540 PPCA deficiency OMIM:256540 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym cathepsin A deficiency cathepsin A deficiency cathepsin a deficiency OMIM:256540 galactosialidosis OMIM:256540 cathepsin A deficiency OMIM:256540 MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal protective Protein deficiency lysosomal protective Protein deficiency lysosomal protective protein deficiency OMIM:256540 galactosialidosis OMIM:256540 lysosomal protective Protein deficiency OMIM:256540 @@ -12356,9 +10588,6 @@ MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 CSNB, complete, autosomal recessive OMIM:257270 MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1b OMIM:257270 night blindness, congenital stationary, type 1b MONDO:Lexical, OMIM:257270 night blindness, congenital stationary, type 1B OMIM:257270 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:257270 CSNB, complete, autosomal recessive OMIM:613216 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:257270 CSNB, complete, autosomal recessive OMIM:613830 -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:257270 CSNB, complete, autosomal recessive OMIM:614565 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MOSAIC variegated aneuploidy syndrome 1 OMIM:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA syndrome MVA syndrome mva syndrome OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 MVA syndrome OMIM:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257300 MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12383,7 +10612,6 @@ MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3MC1 OM MONDO:0009771 oculotrichodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OTD OMIM:257960 oculotrichodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257960 OTD OMIM:257960 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome ORC syndrome orc syndrome OMIM:257970 oculorenocerebellar syndrome OMIM:257970 ORC syndrome OMIM:257970 MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym odontoonychodermal dysplasia OMIM:257980 odontoonychodermal dysplasia MONDO:Lexical, OMIM:257980 odontoonychodermal dysplasia OMIM:257980 -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) OMIM:257980 ectodermal dysplasia OMIMPS:305100 MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym Oguchi disease 1 Oguchi disease 1 oguchi disease 1 OMIM:258100 oguchi disease 1 OMIM:258100 Oguchi disease 1 OMIM:258100 MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, oguchi type 1 OMIM:258100 oguchi disease 1 OMIM:258100 night blindness, congenital stationary, Oguchi type 1 OMIM:258100 MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility OMIM:258150 spermatogenic failure 1 OMIM:258150 Oligochiasmatic infertility OMIM:258150 @@ -12457,7 +10685,6 @@ MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSy MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis syndrome, recessive OMIM:259610 osteolysis syndrome, recessive OMIM:259610 osteolysis syndrome, recessive OMIM:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:259610 osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance OMIM:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0004144 osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 -MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym osteomyelitis, chronic multifocal OMIM:259680 chronic recurrent multifocal osteomyelitis 3 OMIM:259680 osteomyelitis, chronic multifocal OMIM:259680 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopenia and sparse hair OMIM:259690 osteopenia and sparse hair OMIM:259690 osteopenia and sparse hair OMIM:259690 MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym Albers-Schonberg disease, autosomal recessive Albers-Schonberg disease, autosomal recessive albers-schonberg disease, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 Albers-Schonberg disease, autosomal recessive OMIM:259700 MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym marble bones, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 marble bones, autosomal recessive OMIM:259700 @@ -12489,10 +10716,6 @@ MONDO:0009826 PA polymorphism of alpha-2-globulin oio:hasExactSynonym oio:hasRel MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 15, autosomal recessive early-onset Parkinson disease 15, autosomal recessive early-onset parkinson disease 15, autosomal recessive early-onset OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300, MONDO:Lexical Parkinson disease 15, autosomal recessive early-onset OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym pallido-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300 pallido-pyramidal syndrome OMIM:260300 MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym PARK15 OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260300, MONDO:Lexical PARK15 OMIM:260300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis 1 OMIM:260370 pancreatic agenesis 1 OMIM:260370, MONDO:Lexical pancreatic agenesis 1 OMIM:260370 -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260370 PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Bodian syndrome OMIM:260400 -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 lipomatosis of pancreas, congenital OMIM:260400 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym panencephalitis, SUBACUTE sclerosing panencephalitis, SUBACUTE sclerosing panencephalitis, subacute sclerosing OMIM:260470 subacute sclerosing panencephalitis OMIM:260470 panencephalitis, SUBACUTE sclerosing OMIM:260470 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus OMIM:260500 papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus OMIM:260500 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -12500,7 +10723,6 @@ MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome oio:hasExactS MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile Cerebellooptic atrophy infantile Cerebellooptic atrophy infantile cerebellooptic atrophy OMIM:260565 peho syndrome OMIM:260565 infantile Cerebellooptic atrophy OMIM:260565 MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 peho syndrome OMIM:260565 progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHO peho PEHO OMIM:260565 peho syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260565 PEHO OMIM:260565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome OMIM:617507 peho-like syndrome OMIM:260565 peho-like syndrome OMIM:617507 MONDO:0009843 hypomyelinating leukodystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 3 OMIM:260600 leukodystrophy, hypomyelinating, 3 OMIM:260600, MONDO:Lexical leukodystrophy, hypomyelinating, 3 OMIM:260600 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome cousin syndrome OMIM:260660 cousin syndrome OMIM:260660 COUSIN syndrome OMIM:260660 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 cousin syndrome OMIM:260660 craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 @@ -12515,7 +10737,6 @@ MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSyno MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSynonym periodontitis, chronic OMIM:260950 periodontitis, chronic OMIM:260950 periodontitis, chronic OMIM:260950 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 intrinsic factor deficiency OMIM:261000 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasRelatedSynonym pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious anemia, congenital, due to defect of intrinsic factor OMIM:261000 intrinsic factor deficiency OMIM:261000 pernicious Anemia, congenital, due to defect of intrinsic Factor OMIM:261000 -MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym oio:hasRelatedSynonym enterocyte cobalamin malabsorption OMIM:261100 imerslund-grasbeck syndrome 1 OMIM:261100 enterocyte cobalamin malabsorption OMIM:261100 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym DBP deficiency DBP deficiency dbp deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 DBP deficiency OMIM:261515 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym Pbfe deficiency Pbfe deficiency pbfe deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 Pbfe deficiency OMIM:261515 @@ -12709,7 +10930,6 @@ MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia and retinal aplasia OMIM:266900 senior-loken syndrome 1 OMIM:266900 renal dysplasia and retinal aplasia OMIM:266900 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 OMIM:266900 renal-retinal syndrome OMIM:266900 MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SLSN1 OMIM:266900 senior-loken syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:266900, MONDO:Lexical SLSN1 OMIM:266900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Senior-Loken syndrome OMIMPS:266900 Senior-Loken syndrome OMIM:266900 Senior-Loken syndrome OMIMPS:266900 MONDO:0009963 Ulbright-Hodes syndrome oio:hasExactSynonym oio:hasRelatedSynonym RL syndrome RL syndrome rl syndrome OMIM:266910 renal dysplasia-limb defects syndrome OMIM:266910 RL syndrome OMIM:266910 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 MONDO:0009965 Perlman syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor OMIM:267000 perlman syndrome OMIM:267000 nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor OMIM:267000 @@ -12736,7 +10956,6 @@ MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSyn MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700, MONDO:Lexical hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic reticulosis, familial OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 hemophagocytic reticulosis, familial OMIM:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym reticulosis, familial histiocytic OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 reticulosis, familial histiocytic OMIM:267700 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial OMIM:267700 hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 @@ -12763,10 +10982,8 @@ MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRe MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym costovertebral segmentation defect with mesomelia, formerly OMIM:268310 robinow syndrome, autosomal recessive 1 OMIM:268310 costovertebral segmentation defect with mesomelia, formerly OMIM:268310 MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym RODRIGUES blindness RODRIGUES blindness rodrigues blindness OMIM:268320 rodrigues blindness OMIM:268320 RODRIGUES blindness OMIM:268320 MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 rodrigues blindness OMIM:268320 microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:268400 poikiloderma atrophicans and cataract OMIM:618625 MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, pulmonary hypertension, and amino aciduria Growth retardation, pulmonary hypertension, and amino aciduria growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 rowley-rosenberg syndrome OMIM:268500 Growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 MONDO:0010004 EEC syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUDIGER syndrome RUDIGER syndrome rudiger syndrome OMIM:268650 rudiger syndrome OMIM:268650 RUDIGER syndrome OMIM:268650 -MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:268700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:268700 Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 2 OMIM:268700 saccharopinuria OMIM:268700 hyperlysinemia, type 2 OMIM:268700 MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, type 2 GM2-gangliosidosis, type 2 gm2-gangliosidosis, type 2 OMIM:268800 sandhoff disease OMIM:268800 GM2-gangliosidosis, type 2 OMIM:268800 @@ -12779,7 +10996,6 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARDH defic MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym hypersarcosinemia OMIM:268900 sarcosinemia OMIM:268900 hypersarcosinemia OMIM:268900 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency OMIM:268900 sarcosinemia OMIM:268900, Orphanet:3129 sarcosine dehydrogenase complex deficiency OMIM:268900 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268900, MONDO:Lexical SARCOS OMIM:268900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome Schinzel-Giedion midface retraction syndrome schinzel-giedion midface retraction syndrome OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 Schinzel-Giedion midface retraction syndrome OMIM:269150 MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgs Sgs sgs OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 Sgs OMIM:269150 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym oio:hasRelatedSynonym APS 2 APS 2 aps 2 OMIM:269200 autoimmune polyendocrine syndrome, type 2 OMIM:269200 APS 2 OMIM:269200 @@ -12871,7 +11087,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile-onset OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 spinocerebellar ataxia, infantile-onset OMIM:271245 MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MTDPS7 OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271245, MONDO:Lexical MTDPS7 OMIM:271245 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 8 OMIM:608768 spinocerebellar ataxia 8 OMIM:271245 spinocerebellar ataxia 8 OMIM:608768 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with blindness and deafness OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 spinocerebellar ataxia with blindness and deafness OMIM:271250 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250, MONDO:Lexical spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with dysmorphism OMIM:271270 spinocerebellar ataxia with dysmorphism OMIM:271270 spinocerebellar ataxia with dysmorphism OMIM:271270 @@ -12952,7 +11167,6 @@ MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Male germ cell tumor Male germ cell tumor male germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:273300 Male germ cell tumor OMIM:273300 -MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETRAAMELIA syndrome, autosomal recessive TETRAAMELIA syndrome, autosomal recessive tetraamelia syndrome, autosomal recessive OMIM:273395 tetraamelia syndrome 1 MONDO:Lexical, OMIM:273395 TETRAAMELIA syndrome, autosomal recessive OMIM:273395 MONDO:0010114 thanatophoric dysplasia, Glasgow variant oio:hasExactSynonym oio:hasRelatedSynonym neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, glasgow type OMIM:273680 thanatophoric dysplasia, glasgow variant OMIM:273680 neonatally lethal short-limb skeletal dysplasia, Glasgow type OMIM:273680 MONDO:0010116 thoracomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym 'thoraco-limb' dysplasia OMIM:273740 thoracomelic dysplasia OMIM:273740 'thoraco-limb' dysplasia OMIM:273740 MONDO:0010117 3M syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 OMIM:273750 3M syndrome OMIM:273750 @@ -12979,8 +11193,6 @@ MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency dpyd deficiency OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 Dpyd deficiency OMIM:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyrimidinemia, familial OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 pyrimidinemia, familial OMIM:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thymine-Uraciluria, hereditary thymine-Uraciluria, hereditary thymine-uraciluria, hereditary OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 thymine-Uraciluria, hereditary OMIM:274270 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 Gthr OMIM:188570 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 thyroid hormone unresponsiveness OMIM:188570 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 Gthr OMIM:274300 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Refetoff syndrome Refetoff syndrome refetoff syndrome OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300, GARD:0000301 Refetoff syndrome OMIM:274300 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 thyroid hormone unresponsiveness OMIM:274300 @@ -12997,14 +11209,12 @@ MONDO:0010139 isolated thyroid-stimulating hormone deficiency oio:hasExactSynony MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym TRH deficiency TRH deficiency trh deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 TRH deficiency OMIM:275120 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 hypothalamic hypothyroidism OMIM:275120 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin-releasing hormone deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:275200 thyrotropin resistance OMIM:218700 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, Nonautoimmune hypothyroidism, Nonautoimmune hypothyroidism, nonautoimmune OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, Nonautoimmune OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to tsh resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, congenital, due to TSH resistance OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200, MONDO:Lexical hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyroid-stimulating hormone, resistance to OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 thyroid-stimulating hormone, resistance to OMIM:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 thyrotropin resistance OMIM:275200 -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:275200 thyrotropin resistance OMIM:609893 MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym Thm Thm thm OMIM:275220 tibial hemimelia OMIM:275220 Thm OMIM:275220 MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence of OMIM:275220 tibial hemimelia OMIM:275220 tibia, absence of OMIM:275220 MONDO:0010146 Kerion celsi oio:hasExactSynonym oio:hasRelatedSynonym TINEA imbricata, susceptibility to TINEA imbricata, susceptibility to tinea imbricata, susceptibility to OMIM:275240 tinea imbricata, susceptibility to OMIM:275240 TINEA imbricata, susceptibility to OMIM:275240 @@ -13031,7 +11241,6 @@ MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelat MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turcot syndrome Turcot syndrome turcot syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 Turcot syndrome OMIM:276300 MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym childhood cancer syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 childhood cancer syndrome OMIM:276300 MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair deficiency OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 mismatch repair deficiency OMIM:276300 -MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair cancer syndrome mismatch repair cancer syndrome Mismatch repair cancer syndrome OMIMPS:276300 Mismatch repair cancer syndrome OMIM:276300, MONDO:Lexical mismatch repair cancer syndrome OMIMPS:276300 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Oregon type tyrosinemia Oregon type tyrosinemia oregon type tyrosinemia OMIM:276600 tyrosinemia, type 2 OMIM:276600 Oregon type tyrosinemia OMIM:276600 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tat deficiency Tat deficiency tat deficiency OMIM:276600 tyrosinemia, type 2 OMIM:276600 Tat deficiency OMIM:276600 MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tyrosinosis, oculocutaneous type Tyrosinosis, oculocutaneous type tyrosinosis, oculocutaneous type OMIM:276600 tyrosinemia, type 2 OMIM:276600 Tyrosinosis, oculocutaneous type OMIM:276600 @@ -13078,7 +11287,6 @@ MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelated MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of OMIM:277180 vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 vas deferens, congenital bilateral aplasia of OMIM:277180 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD CAVD cavd OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 CAVD OMIM:277180 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical CBAVD OMIM:277180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of vas deferens, congenital bilateral aplasia of Vas deferens, congenital bilateral aplasia of OMIMPS:277180 Vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 vas deferens, congenital bilateral aplasia of OMIMPS:277180 MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Irvh Irvh irvh OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 Irvh OMIM:277200 MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym right ventricular hypoplasia, isolated OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 MONDO:0010181 oculogastrointestinal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia OMIM:277320 intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 @@ -13141,8 +11349,6 @@ MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 mesodermal Dysmorphodystrophy, congenital OMIM:277600 MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 spherophakia-brachymorphia syndrome OMIM:277600 MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WMS1 OMIM:277600 weill-marchesani syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:277600 WMS1 OMIM:277600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 mesodermal Dysmorphodystrophy, congenital OMIM:608328 -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 spherophakia-brachymorphia syndrome OMIM:608328 MONDO:0010196 Werner syndrome oio:hasExactSynonym oio:hasRelatedSynonym WRN OMIM:277700 werner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277700, MONDO:Lexical WRN OMIM:277700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-induced encephalopathy OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 alcohol-induced encephalopathy OMIM:277730 MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym transketolase defect OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 transketolase defect OMIM:277730 @@ -13276,7 +11482,6 @@ MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym o MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 7 mental retardation, X-linked, syndromic 7 mental retardation, x-linked, syndromic 7 OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300218, MONDO:Lexical mental retardation, X-linked, syndromic 7 OMIM:300218 MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy with abnormal genital development OMIM:300219 myotubular myopathy with abnormal genital development OMIM:300219 myotubular myopathy with abnormal genital development OMIM:300219 MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease, X-linked Pseudoautosomal Hodgkin disease, X-linked Pseudoautosomal hodgkin disease, X-linked pseudoautosomal OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal OMIM:300221 Hodgkin disease, X-linked Pseudoautosomal OMIM:300221 -MONDO:0010274 testicular germ cell tumor 1 oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:genemap2, OMIM:300228 testicular germ cell tumor OMIM:273300 MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, X-linked, with mental deterioration SEMD, X-linked, with mental deterioration semd, x-linked, with mental deterioration OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy OMIM:300232 SEMD, X-linked, with mental deterioration OMIM:300232 MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy MONDO:Lexical, OMIM:300660 leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Shashi type mental retardation, X-linked, Shashi type mental retardation, x-linked, shashi type OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300238 mental retardation, X-linked, Shashi type OMIM:300238 @@ -13308,9 +11513,6 @@ MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oi MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome uruguay faciocardiomusculoskeletal syndrome OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome OMIM:300280 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, uruguay type OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 faciocardiomusculoskeletal syndrome, Uruguay type OMIM:300280 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCMSU OMIM:300280 uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300280 FCMSU OMIM:300280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym Xln Xln xln OMIM:300299 neutropenia, severe congenital, X-linked OMIM:300299 Xln OMIM:300299 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym neutropenia, severe congenital, X-linked OMIM:300299 neutropenia, severe congenital, X-linked MONDO:Lexical, OMIM:300299 neutropenia, severe congenital, X-linked OMIM:300299 MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym SCNX OMIM:300299 neutropenia, severe congenital, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300299, MONDO:Lexical SCNX OMIM:300299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13443,8 +11645,6 @@ MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym marke MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation and macroorchidism OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 X-linked mental retardation and macroorchidism OMIM:300624 MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 mental retardation syndrome OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 fragile 10 mental retardation syndrome OMIM:300624 MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, associated with Marxq28 mental retardation, X-linked, associated with Marxq28 mental retardation, x-linked, associated with marxq28 OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 mental retardation, X-linked, associated with Marxq28 OMIM:300624 -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 premature ovarian failure OMIM:311360 premature ovarian failure 1 OMIM:300624 fragile 10 premature ovarian failure OMIM:311360 -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile x-associated OMIM:311360 premature ovarian failure 1 OMIM:300624 primary ovarian insufficiency, fragile X-associated OMIM:311360 MONDO:0010384 hypospadias 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HYSP1 OMIM:300633 hypospadias 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300633 HYSP1 OMIM:300633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym Xiap deficiency Xiap deficiency xiap deficiency OMIM:300635 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 Xiap deficiency OMIM:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 lymphoproliferative syndrome, x-linked, 2 MONDO:Lexical, OMIM:300635, GARD:0010916 lymphoproliferative syndrome, X-linked, 2 OMIM:300635 @@ -13470,7 +11670,6 @@ MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oi MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal myopathy, X-linked dominant OMIM:300695 scapuloperoneal myopathy, X-linked dominant OMIM:300695, MONDO:Lexical scapuloperoneal myopathy, X-linked dominant OMIM:300695 MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym SPM OMIM:300695 scapuloperoneal myopathy, X-linked dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300695 SPM OMIM:300695 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, X-linked, with postural muscle atrophy myopathy, X-linked, with postural muscle atrophy myopathy, x-linked, with postural muscle atrophy OMIM:300696 myopathy, x-linked, with postural muscle atrophy OMIM:300696, MONDO:Lexical myopathy, X-linked, with postural muscle atrophy OMIM:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:300696, OMIM:genemap2 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 29 mental retardation, X-linked, syndromic 29 mental retardation, x-linked, syndromic 29 OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699 mental retardation, X-linked, syndromic 29 OMIM:300699 MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym MRXSW OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699, MONDO:Lexical MRXSW OMIM:300699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSynonym albinism-deafness syndrome OMIM:300700 albinism-deafness syndrome OMIM:300700, OMIM:genemap2, MONDO:Lexical albinism-deafness syndrome OMIM:300700 @@ -13501,7 +11700,6 @@ MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:has MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752, MONDO:Lexical protoporphyria, erythropoietic, X-linked OMIM:300752 MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked dominant OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752 protoporphyria, erythropoietic, X-linked dominant OMIM:300752 MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLEPP OMIM:300752 protoporphyria, erythropoietic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300752 XLEPP OMIM:300752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP XLP xlp OMIM:308240 lymphoproliferative syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 XLP OMIM:308240 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked OMIM:300755 agammaglobulinemia, X-linked MONDO:Lexical, OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked, type 1 agammaglobulinemia, X-linked, type 1 agammaglobulinemia, x-linked, type 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 agammaglobulinemia, X-linked, type 1 OMIM:300755 MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 immunodeficiency 1 OMIM:300755 @@ -13624,7 +11822,6 @@ MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:ha MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-thalassemia/mental retardation syndrome, X-linked ALPHA-thalassemia/mental retardation syndrome, X-linked alpha-thalassemia/mental retardation syndrome, X-linked OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 ALPHA-thalassemia/mental retardation syndrome, X-linked OMIM:301040 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, Nondeletion type Alpha-thalassemia/mental retardation syndrome, Nondeletion type alpha-thalassemia/mental retardation syndrome, nondeletion type OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:301040 Alpha-thalassemia/mental retardation syndrome, Nondeletion type OMIM:301040 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATRX OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 ATRX OMIM:301040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS OMIM:208050 MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS OMIM:301050 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, X-linked 1 OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 amelogenesis imperfecta, X-linked 1 OMIM:301200 MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with snow-capped teeth OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth OMIM:301200 @@ -13691,7 +11888,6 @@ MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRe MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, brachytelephalangic OMIM:302950 chondrodysplasia punctata 1, X-linked recessive GARD:0001296 chondrodysplasia punctata, brachytelephalangic OMIM:302950 MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CPXR CPXR cpxr OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001296 CPXR OMIM:302950 MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CDPX1 OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0001296, OMIM:302950 CDPX1 OMIM:302950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:303100 choroidal sclerosis OMIM:215500 MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym Tapetochoroidal dystrophy, progressive Tapetochoroidal dystrophy, progressive tapetochoroidal dystrophy, progressive OMIM:303100 choroideremia OMIM:303100 Tapetochoroidal dystrophy, progressive OMIM:303100 MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq21 deletion syndrome chromosome Xq21 deletion syndrome chromosome xq21 deletion syndrome OMIM:303110 chromosome xq21 deletion syndrome OMIM:303110 chromosome Xq21 deletion syndrome OMIM:303110 MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroideremia, deafness, and mental retardation OMIM:303110 chromosome xq21 deletion syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:303110 choroideremia, deafness, and mental retardation OMIM:303110 @@ -13719,7 +11915,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 faciopalatoosseous syndrome OMIM:304120 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym otopalatodigital syndrome, type 2 OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 OMIM:304120 otopalatodigital syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 OPD2 OMIM:304120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical OHS OMIM:185000 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS IX, formerly EDS IX, formerly eds ix, formerly OMIM:304150 occipital horn syndrome OMIM:304150 EDS IX, formerly OMIM:304150 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS9, formerly EDS9, formerly eds9, formerly OMIM:304150 occipital horn syndrome OMIM:304150 EDS9, formerly OMIM:304150 MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, occipital horn type, formerly Ehlers-Danlos syndrome, occipital horn type, formerly ehlers-danlos syndrome, occipital horn type, formerly OMIM:304150 occipital horn syndrome OMIM:304150 Ehlers-Danlos syndrome, occipital horn type, formerly OMIM:304150 @@ -13769,7 +11964,6 @@ MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:ha MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Fevr, X-linked Fevr, X-linked fevr, X-linked OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 Fevr, X-linked OMIM:305390 MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym exudative vitreoretinopathy, familial, 2 OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 exudative vitreoretinopathy, familial, 2 OMIM:305390 MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 OMIM:305390 exudative vitreoretinopathy 2, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical EVR2 OMIM:305390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-like syndrome Aarskog-like syndrome aarskog-like syndrome OMIM:227330 faciodigitogenital syndrome, autosomal recessive MESH:C535331 Aarskog-like syndrome OMIM:227330 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome OMIM:305400, MESH:C535331, MONDO:Lexical Aarskog-Scott syndrome OMIM:305400 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome OMIM:305400 aarskog-scott syndrome MESH:C535331, OMIM:305400, Orphanet:915 faciodigitogenital syndrome OMIM:305400 MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome Orphanet:915, MESH:C535331, OMIM:305400 faciogenital dysplasia OMIM:305400 @@ -13779,10 +11973,8 @@ MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Keller syn MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome MONDO:Lexical, OMIM:305450 Opitz-Kaveggia syndrome OMIM:305450 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:305450 mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OKS OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305450, MONDO:Lexical OKS OMIM:305450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome OMIMPS:305450 FG syndrome OMIM:305450 FG syndrome OMIMPS:305450 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Fodh Fodh fodh OMIM:305600 focal dermal hypoplasia OMIM:305600 Fodh OMIM:305600 MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 FDH OMIM:615999 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Mesangiocapillary glomerulonephritis, X-linked Mesangiocapillary glomerulonephritis, X-linked mesangiocapillary glomerulonephritis, X-linked OMIM:305800 membranoproliferative glomerulonephritis, X-linked OMIM:305800 Mesangiocapillary glomerulonephritis, X-linked OMIM:305800 MONDO:0010597 glutamyl ribose-5-phosphate storage disease oio:hasExactSynonym oio:hasRelatedSynonym ADP-ribose Protein hydrolase deficiency ADP-ribose Protein hydrolase deficiency adp-ribose protein hydrolase deficiency OMIM:305920 glutamyl ribose-5-phosphate storage disease OMIM:305920 ADP-ribose Protein hydrolase deficiency OMIM:305920 MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym oio:hasRelatedSynonym GSD VIII, formerly GSD VIII, formerly gsd viii, formerly OMIM:306000 glycogen storage disease ixa1 OMIM:306000 GSD VIII, formerly OMIM:306000 @@ -13803,7 +11995,6 @@ MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelat MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HTX1 OMIM:306955 heterotaxy, visceral, 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:306955, MONDO:Lexical HTX1 OMIM:306955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010608 Hhhh syndrome oio:hasExactSynonym oio:hasRelatedSynonym hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 hhhh syndrome OMIM:306960 hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 microhydranencephaly, X-linked OMIM:306990 holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000, MONDO:Lexical hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym aqueductal stenosis, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 aqueductal stenosis, X-linked OMIM:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000, MONDO:Lexical hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 hydrocephalus, X-linked OMIM:307000 @@ -13814,7 +12005,6 @@ MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelat MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GK1 deficiency GK1 deficiency gk1 deficiency OMIM:307030 glycerol kinase deficiency OMIM:307030 GK1 deficiency OMIM:307030 MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia OMIM:307030 glycerol kinase deficiency OMIM:307030 hyperglycerolemia OMIM:307030 MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GKD OMIM:307030 glycerol kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307030 GKD OMIM:307030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, congenital generalized OMIM:145701 hypertrichosis universalis congenita, ambras type MONDO:Lexical, OMIM:307150 hypertrichosis, congenital generalized OMIM:145701 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym Cgh Cgh cgh OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 Cgh OMIM:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 Interchromosomal insertion syndrome chromosome Xq27.1 Interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 chromosome Xq27.1 Interchromosomal insertion syndrome OMIM:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 interchromosomal insertion syndrome chromosome Xq27.1 interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 GARD:0002863 chromosome Xq27.1 interchromosomal insertion syndrome OMIM:307150 @@ -13865,8 +12055,6 @@ MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactS MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX Kfsdx KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536159 KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308800, MONDO:Lexical KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis OMIM:150260 laryngeal abductor paralysis OMIM:308850 laryngeal abductor paralysis OMIM:150260 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:308850 vocal cord dysfunction, familial OMIM:150260 MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:308850 vocal cord dysfunction, familial OMIM:308850 MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Leber hereditary optic neuropathy, modifier of Leber hereditary optic neuropathy, modifier of leber hereditary optic neuropathy, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 Leber hereditary optic neuropathy, modifier of OMIM:308905 MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Lhon, modifier of Lhon, modifier of lhon, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 Lhon, modifier of OMIM:308905 @@ -13878,18 +12066,10 @@ MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome oio:hasExactSynony MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ocrl1 Ocrl1 ocrl1 OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 Ocrl1 OMIM:309000 MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 OMIM:309120 spermatogenic failure, x-linked, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical SPGFX2 OMIM:309120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:309200 bipolar affective disorder OMIM:125480 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 2 MAJOR affective disorder 2 major affective disorder 2 OMIM:309200 major affective disorder 2 OMIM:309200 MAJOR affective disorder 2 OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:309200 bipolar affective disorder OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive illness OMIM:309200 major affective disorder 2 OMIM:309200 manic-depressive illness OMIM:309200 MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, X-linked OMIM:309200 major affective disorder 2 OMIM:309200 manic-depressive psychosis, X-linked OMIM:309200 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:309200 bipolar affective disorder OMIM:611247 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:309200 bipolar affective disorder OMIM:611535 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:309200 bipolar affective disorder OMIM:611536 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:309200 bipolar affective disorder OMIM:612357 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:309200 bipolar affective disorder OMIM:612371 -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:309200 bipolar affective disorder OMIM:612372 -MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:249300 megalocornea MONDO:Lexical, OMIM:309300 megalocornea OMIM:249300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym Mgcn Mgcn mgcn OMIM:309300 megalocornea OMIM:309300 Mgcn OMIM:309300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:309300 megalocornea MONDO:Lexical, OMIM:309300 megalocornea OMIM:309300 MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym MGC1 OMIM:309300 megalocornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309300, MONDO:Lexical MGC1 OMIM:309300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -13922,8 +12102,6 @@ MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExa MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with optic atrophy, deafness, and seizures OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309555 mental retardation with optic atrophy, deafness, and seizures OMIM:309555 MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, x-linked, 1 OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580, MONDO:Lexical mental retardation-hypotonic facies syndrome, X-linked, 1 OMIM:309580 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasNarrowSynonym Juberg-Marsidi syndrome Juberg-Marsidi syndrome juberg-marsidi syndrome OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type OMIM:309580 Juberg-Marsidi syndrome OMIM:309590 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, x-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580 mental retardation, X-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, x-linked, syndromic, snyder-robinson type OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 mental retardation, X-linked, syndromic, Snyder-Robinson type OMIM:309583 MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym MRXSSR OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 MRXSSR OMIM:309583 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010665 Wilson-Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilson-TURNER X-linked mental retardation syndrome Wilson-TURNER X-linked mental retardation syndrome wilson-turner X-linked mental retardation syndrome OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309585, MONDO:Lexical Wilson-TURNER X-linked mental retardation syndrome OMIM:309585 @@ -13935,8 +12113,6 @@ MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSy MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion OMIM:309630 metacarpal 4-5 fusion OMIM:309630, MONDO:Lexical metacarpal 4-5 fusion OMIM:309630 MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym MF4 OMIM:309630 metacarpal 4-5 fusion http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309630 MF4 OMIM:309630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia OMIM:309640 mental retardation with spastic paraplegia http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309640 mental retardation with spastic paraplegia OMIM:309640 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical linear skin defects with multiple congenital anomalies 1 OMIM:309801 -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym LSDMCA1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309801 LSDMCA1 OMIM:309801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym oio:hasRelatedSynonym Tourette syndrome, modifier of Tourette syndrome, modifier of tourette syndrome, modifier of OMIM:309840 modifier, x-linked, for neurofunctional defects OMIM:309840 Tourette syndrome, modifier of OMIM:309840 MONDO:0010678 muscular dystrophy, progressive Pectorodorsal oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 muscular dystrophy, progressive pectorodorsal OMIM:310095 muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Duchenne type muscular dystrophy, Duchenne type muscular dystrophy, duchenne type OMIM:310200 muscular dystrophy, duchenne type MONDO:Lexical, OMIM:310200 muscular dystrophy, Duchenne type OMIM:310200 @@ -13999,7 +12175,6 @@ MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency Orphanet:79243 pyruvate decarboxylase deficiency OMIM:312170 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency OMIM:312170 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase E1-ALPHA deficiency OMIM:312170 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency OMIMPS:312170 MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia and anogenital anomalies OMIM:312190 radial aplasia, X-linked OMIM:312190 radial aplasia and anogenital anomalies OMIM:312190 MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia, X-linked OMIM:312190 radial aplasia, X-linked OMIM:312190 radial aplasia, X-linked OMIM:312190 MONDO:0010719 radiation sensitivity of natural killer activity oio:hasExactSynonym oio:hasRelatedSynonym X-Ray Nk sensitivity X-Ray Nk sensitivity x-ray nk sensitivity OMIM:312210 radiation sensitivity of natural killer activity OMIM:312210 X-Ray Nk sensitivity OMIM:312210 @@ -14010,7 +12185,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym R MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym XLRS1 XLRS1 xlrs1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700 XLRS1 OMIM:312700 MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym RS1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700, MONDO:Lexical RS1 OMIM:312700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010726 Rett syndrome oio:hasExactSynonym oio:hasRelatedSynonym autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 rett syndrome OMIM:312750 autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 -MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome OMIM:312780 Partington syndrome OMIM:309510 MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 Partington syndrome OMIM:312780 MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Russell-Silver-like syndrome with skin pigmentation Russell-Silver-like syndrome with skin pigmentation russell-silver-like syndrome with skin pigmentation OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 Russell-Silver-like syndrome with skin pigmentation OMIM:312780 MONDO:0010728 SCARF syndrome oio:hasExactSynonym oio:hasRelatedSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities OMIM:312830 scarf syndrome OMIM:312830 skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities OMIM:312830 @@ -14050,7 +12224,6 @@ MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC T MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC1 OMIM:313900 thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:313900 THC1 OMIM:313900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked MONDO:Lexical, OMIM:314050 thrombocytopenia with BETA-thalassemia, X-linked OMIM:314050 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis OMIM:314050 -MONDO:0010746 thumbs, congenital Clasped oio:hasExactSynonym oio:hasRelatedSynonym adducted thumbs syndrome OMIM:201550 adducted thumbs syndrome OMIM:314100 adducted thumbs syndrome OMIM:201550 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia 3, torsion, X-linked OMIM:314250 dystonia 3, torsion, X-linked MONDO:Lexical, OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia-Parkinsonism, X-linked dystonia-Parkinsonism, X-linked dystonia-parkinsonism, X-linked OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 dystonia-Parkinsonism, X-linked OMIM:314250 MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia-Parkinsonism, Filipino type torsion dystonia-Parkinsonism, Filipino type torsion dystonia-parkinsonism, filipino type OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 torsion dystonia-Parkinsonism, Filipino type OMIM:314250 @@ -14161,7 +12334,6 @@ MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynon MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym Parkinsonism, early-onset, with diurnal fluctuation Parkinsonism, early-onset, with diurnal fluctuation parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 parkinson disease 2, autosomal recessive juvenile OMIM:600116 Parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym PARK2 OMIM:600116 parkinson disease 2, autosomal recessive juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600116, MONDO:Lexical PARK2 OMIM:600116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym dysphasia, familial developmental OMIM:600117 dysphasia, familial developmental OMIM:600117 dysphasia, familial developmental OMIM:600117 -MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym specific language impairment specific language impairment Specific language impairment OMIMPS:606711 Specific language impairment GARD:0001823 specific language impairment OMIMPS:606711 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 warburg micro syndrome 1 OMIM:600118 warburg micro syndrome 1 OMIM:600118 WARBURG micro syndrome 1 OMIM:600118 MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 OMIM:600118 micro syndrome OMIM:600118 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency AGPS deficiency agps deficiency OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 DOID:0110853 AGPS deficiency OMIM:600121 @@ -14296,8 +12468,6 @@ MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynony MONDO:0010917 chondrocalcinosis 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrocalcinosis with early-onset osteoarthritis OMIM:600668 chondrocalcinosis 1 OMIM:600668 chondrocalcinosis with early-onset osteoarthritis OMIM:600668 MONDO:0010921 nasal dermoid cyst oio:hasExactSynonym oio:hasRelatedSynonym dermoid cysts, familial frontonasal OMIM:600679 dermoid cysts, familial frontonasal OMIM:600679 dermoid cysts, familial frontonasal OMIM:600679 MONDO:0010922 Satoyoshi syndrome oio:hasExactSynonym oio:hasRelatedSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 satoyoshi syndrome OMIM:600705 muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 1 d-2-hydroxyglutaric aciduria 1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical D-2-hydroxyglutaric aciduria 1 OMIM:600721 -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D2HGA D2HGA d2hga OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600721 D2HGA OMIM:600721 MONDO:0010925 velo-facial-skeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym VELOFACIOSKELETAL syndrome VELOFACIOSKELETAL syndrome velofacioskeletal syndrome OMIM:600736 velofacioskeletal syndrome OMIM:600736 VELOFACIOSKELETAL syndrome OMIM:600736 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypercalcemia, type 3 OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 familial benign hypercalcemia, type 3 OMIM:600740 MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, oklahoma type OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 hypercalcemia, familial benign, Oklahoma type OMIM:600740 @@ -14347,7 +12517,6 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010960 protocadherin 3 oio:hasExactSynonym oio:hasRelatedSynonym Pcdh3 Pcdh3 pcdh3 OMIM:600931 protocadherin 3 OMIM:600931 Pcdh3 OMIM:600931 MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym proprotein convertase 1/3 deficiency OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:600962, DOID:0050428 tylosis OMIM:144200 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym keratoderma, nonepidermolytic palmoplantar OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962 keratoderma, nonepidermolytic palmoplantar OMIM:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962, DOID:0050428 tylosis OMIM:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym PPKNE PPKNE ppkne OMIM:600962 palmoplantar keratoderma, nonepidermolytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600962 PPKNE OMIM:600962 @@ -14378,8 +12547,6 @@ MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynonym NPHS2 OMIM:600995 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600995, MONDO:Lexical NPHS2 OMIM:600995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010977 Brody myopathy oio:hasExactSynonym oio:hasRelatedSynonym Brody disease Brody disease brody disease OMIM:601003 brody disease GARD:0009158 Brody disease OMIM:601003 MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome with syndactyly long QT syndrome with syndactyly long qt syndrome with syndactyly OMIM:601005 timothy syndrome OMIM:601005 long QT syndrome with syndactyly OMIM:601005 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 long QT syndrome 8 long qt syndrome 8 OMIM:618447 long qt syndrome 8 OMIM:601005 long QT syndrome 8 OMIM:618447 -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 OMIM:618447 long qt syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 LQT8 OMIM:618447 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym Dincsoy syndrome Dincsoy syndrome dincsoy syndrome OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism OMIM:601016 Dincsoy syndrome OMIM:601016 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies OMIM:601027 MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies GARD:0005210 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 @@ -14463,7 +12630,6 @@ MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome oio:hasExactSynonym o MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome MONDO:Lexical, OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym OOCH OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601220, MONDO:Lexical OOCH OMIM:601220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 PSS OMIM:270300 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Defect11 syndrome Defect11 syndrome defect11 syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 Defect11 syndrome OMIM:601224 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P11.2 deletion syndrome chromosome 11P11.2 deletion syndrome chromosome 11p11.2 deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 chromosome 11P11.2 deletion syndrome OMIM:601224 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome proximal 11p deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 proximal 11P deletion syndrome OMIM:601224 @@ -14506,7 +12672,6 @@ MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome oio:hasE MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial AMELIA, cleft LIP, and holoprosencephaly brachial AMELIA, cleft LIP, and holoprosencephaly brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly MONDO:Lexical, OMIM:601357 brachial AMELIA, cleft LIP, and holoprosencephaly OMIM:601357 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and facial clefts OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 brachial amelia, forebrain defects, and Facial clefts OMIM:601357 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym ACLH OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601357 ACLH OMIM:601357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome OMIM:601358 NBs OMIM:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome nicolaides-baraitser syndrome OMIM:601358 nicolaides-baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome OMIM:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NCBRS OMIM:601358 nicolaides-baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358, MONDO:Lexical NCBRS OMIM:601358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -14567,7 +12732,6 @@ MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelat MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type iia, formerly OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel OMIM:601462 myasthenic syndrome, congenital, type IIa, formerly OMIM:601462 MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym portosystemic Venous shunt, congenital portosystemic Venous shunt, congenital portosystemic venous shunt, congenital OMIM:601466 patent ductus venosus OMIM:601466 portosystemic Venous shunt, congenital OMIM:601466 MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym PDV OMIM:601466 patent ductus venosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601466, MONDO:Lexical PDV OMIM:601466 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial palsy, congenital, unilateral or bilateral OMIM:601471 facial paresis, hereditary congenital, 1 OMIM:601471 facial palsy, congenital, unilateral or bilateral OMIM:601471 MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, hereditary congenital facial paresis, hereditary congenital Facial paresis, hereditary congenital OMIMPS:601471 Facial paresis, hereditary congenital OMIMPS:601471 facial paresis, hereditary congenital OMIMPS:601471 MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2D Charcot-Marie-Tooth disease, axonal, type 2D charcot-marie-tooth disease, axonal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d MONDO:Lexical, GARD:0001251, OMIM:601472 Charcot-Marie-Tooth disease, axonal, type 2D OMIM:601472 MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, neuronal, type 2D Charcot-Marie-Tooth disease, neuronal, type 2D charcot-marie-tooth disease, neuronal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d OMIM:601472 Charcot-Marie-Tooth disease, neuronal, type 2D OMIM:601472 @@ -14614,7 +12778,6 @@ MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSy MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym LACHT OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601612, MONDO:Lexical LACHT OMIM:601612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 cysts of iris pigment epithelium OMIM:601616 MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym ruffles and cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 ruffles and cysts of iris pigment epithelium OMIM:601616 -MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym neural tube defects, susceptibility to OMIM:182940 neural tube defects, susceptibility to OMIM:genemap2, OMIM:601634 neural tube defects, susceptibility to OMIM:182940 MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTD, folate-sensitive NTD, folate-sensitive ntd, folate-sensitive OMIM:601634 neural tube defects, folate-sensitive OMIM:601634 NTD, folate-sensitive OMIM:601634 MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTDFS OMIM:601634 neural tube defects, folate-sensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601634 NTDFS OMIM:601634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011121 paragangliomas 2 oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, familial, 2 OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 OMIM:601650 glomus tumors, familial, 2 OMIM:601650 @@ -14647,9 +12810,6 @@ MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelate MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym PENTT OMIM:601812 premature aging syndrome, penttinen type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601812, MONDO:Lexical PENTT OMIM:601812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 OMIM:601813 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical EVR4 OMIM:601813 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011152 PHGDH deficiency oio:hasExactSynonym oio:hasRelatedSynonym PHGDHD OMIM:601815 phosphoglycerate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601815 PHGDHD OMIM:601815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 hyperinsulinism, congenital OMIM:256450 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, persistent OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinemic hypoglycemia, persistent OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 hyperinsulinism, congenital OMIM:601820 @@ -14658,7 +12818,6 @@ MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 nesidioblastosis OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical HHF2 OMIM:601820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011155 vacuolar Neuromyopathy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM:601846 muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 2 OMIM:601847 cholestasis, progressive familial intrahepatic, 2 MONDO:Lexical, OMIM:601847 cholestasis, progressive familial intrahepatic, 2 OMIM:601847 MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cerebellotrigeminal dermal dysplasia Cerebellotrigeminal dermal dysplasia cerebellotrigeminal dermal dysplasia OMIM:601853 gomez-lopez-hernandez syndrome GARD:0000229 Cerebellotrigeminal dermal dysplasia OMIM:601853 MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym GOMEZ-LOPEZ-HERNANDEZ syndrome GOMEZ-LOPEZ-HERNANDEZ syndrome gomez-lopez-hernandez syndrome OMIM:601853 gomez-lopez-hernandez syndrome OMIM:601853 GOMEZ-LOPEZ-HERNANDEZ syndrome OMIM:601853 @@ -14779,7 +12938,6 @@ MONDO:0011229 ethylmalonic encephalopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0011230 ossification of the posterior longitudinal ligament of the spine oio:hasExactSynonym oio:hasRelatedSynonym ossification of the POSTERIOR longitudinal ligament of spine ossification of the POSTERIOR longitudinal ligament of spine ossification of the posterior longitudinal ligament of spine OMIM:602475 ossification of the posterior longitudinal ligament of spine MONDO:Lexical, OMIM:602475 ossification of the POSTERIOR longitudinal ligament of spine OMIM:602475 MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mhp2 Mhp2 mhp2 OMIM:602481 migraine, familial hemiplegic, 2 OMIM:602481 Mhp2 OMIM:602481 MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FHM2 OMIM:602481 migraine, familial hemiplegic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602481, MONDO:Lexical FHM2 OMIM:602481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 DOID:0110122, OMIM:602482 anterior segment mesenchymal dysgenesis OMIM:107250 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss OMIM:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 3 Axenfeld-Rieger syndrome, type 3 axenfeld-rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482, MONDO:Lexical Axenfeld-Rieger syndrome, type 3 OMIM:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Rieger syndrome, type 3 Rieger syndrome, type 3 rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 Rieger syndrome, type 3 OMIM:602482 @@ -14867,7 +13025,6 @@ MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:has MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS1 OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603041, MONDO:Lexical MTDPS1 OMIM:603041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 MONDO:Lexical, OMIM:603075 macular degeneration, age-related, 1 OMIM:603075 MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym maculopathy, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 OMIM:603075 maculopathy, age-related, 1 OMIM:603075 -MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasBroadSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related OMIM:603075, OMIM:genemap2 macular degeneration, age-related OMIMPS:603075 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 13 OMIM:603098 deafness, autosomal recessive 13 MONDO:Lexical, OMIM:603098, OMIM:genemap2 deafness, autosomal recessive 13 OMIM:603098 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNB13 OMIM:603098 deafness, autosomal recessive 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110468, MONDO:Lexical, OMIM:603098 DFNB13 OMIM:603098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 cdags syndrome OMIM:603116 craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 @@ -14962,15 +13119,6 @@ MONDO:0011384 hypertension, essential, susceptibility to, 1 oio:hasExactSynonym MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MVCD1 OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603933, MONDO:Lexical MVCD1 OMIM:603933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 end-stage renal disease, diabetic, susceptibility to OMIM:612623 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 end-stage renal disease, diabetic, susceptibility to OMIM:612624 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 nephropathy, diabetic, susceptibility to OMIM:612635 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 16 OMIM:603964 deafness, autosomal dominant 16 OMIM:genemap2, MONDO:Lexical, OMIM:603964 deafness, autosomal dominant 16 OMIM:603964 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 OMIM:603964 deafness, autosomal dominant 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 DFNA16 OMIM:603964 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011390 focal segmental glomerulosclerosis 2 oio:hasExactSynonym oio:hasRelatedSynonym glomerulosclerosis, focal segmental, 2 OMIM:603965 focal segmental glomerulosclerosis 2 OMIM:603965 glomerulosclerosis, focal segmental, 2 OMIM:603965 @@ -14979,7 +13127,6 @@ MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynon MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym HDL cholesterol, Low serum HDL cholesterol, Low serum hdl cholesterol, low serum OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 HDL cholesterol, Low serum OMIM:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial HDL deficiency familial HDL deficiency familial hdl deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 GARD:0002872, OMIM:604091 familial HDL deficiency OMIM:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 high density lipoprotein deficiency OMIM:604091 -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:604091 high density lipoprotein deficiency OMIM:618463 MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym Vohwinkel syndrome, variant form Vohwinkel syndrome, variant form vohwinkel syndrome, variant form OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 Vohwinkel syndrome, variant form OMIM:604117 MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym mutilating keratoderma with ichthyosis OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 mutilating keratoderma with ichthyosis OMIM:604117 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:Lexical, OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 @@ -15059,9 +13206,6 @@ MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotric MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis, total, Mari type hypotrichosis, total, Mari type hypotrichosis, total, mari type OMIM:604379 hypotrichosis 7 OMIM:604379 hypotrichosis, total, Mari type OMIM:604379 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym Nph3 Nph3 nph3 OMIM:604387 nephronophthisis 3 OMIM:604387 Nph3 OMIM:604387 -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ataxia-telangiectasia-like disorder 1 OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391, MONDO:Lexical ataxia-telangiectasia-like disorder 1 OMIM:604391 -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604391 ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:genemap2, OMIM:604393 cone-rod dystrophy OMIM:120970 MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 OMIM:604403 generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 GEFSP2 OMIM:604403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15082,8 +13226,6 @@ MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:h MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block, type 1B progressive familial heart block, type 1B progressive familial heart block, type 1b OMIM:604559 progressive familial heart block, type 1b OMIM:604559 progressive familial heart block, type 1B OMIM:604559 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 OMIM:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 4B2 Charcot-Marie-Tooth neuropathy, type 4B2 charcot-marie-tooth neuropathy, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 Charcot-Marie-Tooth neuropathy, type 4B2 OMIM:604563 -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 1 Bare lymphocyte syndrome, type 1 bare lymphocyte syndrome, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 Bare lymphocyte syndrome, type 1 OMIM:604571 -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 1 Bls, type 1 bls, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 Bls, type 1 OMIM:604571 MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym hypodontia/oligodontia 3 OMIM:604625 tooth agenesis, selective, 3 OMIM:604625 hypodontia/oligodontia 3 OMIM:604625 MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym STHAG3 OMIM:604625 tooth agenesis, selective, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604625, MONDO:Lexical STHAG3 OMIM:604625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia oio:hasExactSynonym oio:hasRelatedSynonym Roca syndrome Roca syndrome roca syndrome OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia OMIM:604690 Roca syndrome OMIM:604690 @@ -15134,8 +13276,6 @@ MONDO:0011509 low density lipoprotein cholesterol, mild elevation of oio:hasExac MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome bohring-opitz syndrome OMIM:605039 bohring-opitz syndrome OMIM:605039 BOHRING-Opitz syndrome OMIM:605039 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOPS OMIM:605039 bohring-opitz syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605039 BOPS OMIM:605039 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia oio:hasExactSynonym oio:hasRelatedSynonym Chzam Chzam chzam OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia OMIM:605040 Chzam OMIM:605040 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:605041 Bss OMIM:209885 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605041 BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:605041 Bss OMIM:605041 MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Spiegler-Brooke syndrome Spiegler-Brooke syndrome spiegler-brooke syndrome OMIM:605041 brooke-spiegler syndrome OMIM:605041 Spiegler-Brooke syndrome OMIM:605041 MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15182,7 +13322,6 @@ MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym cataton MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15q15-related OMIM:605419 schizophrenia 10 OMIM:605419 schizophrenia susceptibility locus, chromosome 15Q15-related OMIM:605419 MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 26 OMIM:605428 deafness, autosomal recessive 26 MONDO:Lexical, OMIM:genemap2, OMIM:605428 deafness, autosomal recessive 26 OMIM:605428 MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym DFNB26 OMIM:605428 deafness, autosomal recessive 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605428, DOID:0110484, MONDO:Lexical DFNB26 OMIM:605428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUSAT RUSAT rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605432 RUSAT OMIM:605432 MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radioulnar synostosis with amegakaryocytic thrombocytopenia radioulnar synostosis with amegakaryocytic thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia MONDO:Lexical, OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 MONDO:0011558 Usher syndrome type 2C oio:hasExactSynonym oio:hasRelatedSynonym Usher syndrome, type 2C Usher syndrome, type 2C usher syndrome, type 2c OMIM:605472 usher syndrome, type 2c GARD:0008497 Usher syndrome, type 2C OMIM:605472 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 OMIM:605479, MONDO:Lexical cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 @@ -15265,7 +13404,6 @@ MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion b MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy, quadriceps-sparing OMIM:605820 nonaka myopathy OMIM:605820, GARD:0009493 inclusion body myopathy, quadriceps-sparing OMIM:605820 MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with or without rimmed vacuoles OMIM:605820 nonaka myopathy OMIM:605820 myopathy, distal, with or without rimmed vacuoles OMIM:605820 MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with rimmed vacuoles OMIM:617158 myopathy, distal, with rimmed vacuoles OMIM:605820 myopathy, distal, with rimmed vacuoles OMIM:617158 MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondyloocular syndrome OMIM:605822 spondyloocular syndrome MONDO:Lexical, OMIM:605822 spondyloocular syndrome OMIM:605822 MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOS OMIM:605822 spondyloocular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605822, MONDO:Lexical SOS OMIM:605822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011605 generalized basaloid follicular hamartoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:Lexical, OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 @@ -15274,8 +13412,6 @@ MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym oio:hasRelatedSynonym de MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym oio:hasRelatedSynonym dermatitis, ATOPIC, 6 dermatitis, ATOPIC, 6 dermatitis, atopic, 6 OMIM:605845 dermatitis, atopic, 6 OMIM:605845, MONDO:Lexical dermatitis, ATOPIC, 6 OMIM:605845 MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency dmgdh deficiency OMIM:605850 dimethylglycine dehydrogenase deficiency OMIM:605850 Dmgdh deficiency OMIM:605850 MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DMGDHD OMIM:605850 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605850 DMGDHD OMIM:605850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym hyperglycinemia, Nonketotic hyperglycinemia, Nonketotic hyperglycinemia, nonketotic OMIM:605899 glycine encephalopathy 1 OMIM:605899 hyperglycinemia, Nonketotic OMIM:605899 -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GCE GCE gce OMIM:605899 glycine encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605899 GCE OMIM:605899 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy OMIMPS:605899 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy OMIMPS:605899 MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, autosomal recessive early-onset Parkinson disease 6, autosomal recessive early-onset parkinson disease 6, autosomal recessive early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909, MONDO:Lexical Parkinson disease 6, autosomal recessive early-onset OMIM:605909 MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, early-onset Parkinson disease 6, early-onset parkinson disease 6, early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909 Parkinson disease 6, early-onset OMIM:605909 @@ -15330,7 +13466,6 @@ MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 oio:hasExactS MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and joint dislocations OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606220 mental retardation, short stature, facial anomalies, and JOINT dislocations OMIM:606220 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome chromosome 22q13.3 deletion syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 chromosome 22Q13.3 deletion syndrome OMIM:606232 MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym telomeric 22Q13 monosomy syndrome telomeric 22Q13 monosomy syndrome telomeric 22q13 monosomy syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 telomeric 22Q13 monosomy syndrome OMIM:606232 -MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1 OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:606240 thyroid cancer, nonmedullary, 1 OMIM:188550 MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1, formerly OMIM:606240 thyroid cancer, nonmedullary, 3 OMIM:606240 thyroid cancer, nonmedullary, 1, formerly OMIM:606240 MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym Kondoh syndrome Kondoh syndrome kondoh syndrome OMIM:606242 kondoh syndrome OMIM:606242 Kondoh syndrome OMIM:606242 MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism OMIM:606242 kondoh syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606242 mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism OMIM:606242 @@ -15367,14 +13502,10 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate B Charcot-Marie-Tooth neuropathy, dominant Intermediate B charcot-marie-tooth neuropathy, dominant intermediate B OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Charcot-Marie-Tooth neuropathy, dominant Intermediate B OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Cmtdi1 Cmtdi1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Cmtdi1 OMIM:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Di-CMTB Di-CMTB di-cmtb OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 Di-CMTB OMIM:606482 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate A Charcot-Marie-Tooth disease, dominant intermediate A charcot-marie-tooth disease, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a MONDO:Lexical, OMIM:606483 Charcot-Marie-Tooth disease, dominant intermediate A OMIM:620378 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate a Charcot-Marie-Tooth neuropathy, dominant Intermediate a charcot-marie-tooth neuropathy, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a OMIM:606483 Charcot-Marie-Tooth neuropathy, dominant Intermediate a OMIM:620378 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym PHACE association PHACE association phace association OMIM:606519 phace association OMIM:606519 PHACE association OMIM:606519 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phaces association Phaces association phaces association OMIM:606519 phace association OMIM:606519 Phaces association OMIM:606519 MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, giant congenital OMIM:606519 phace association OMIM:606519 aortic aneurysm, giant congenital OMIM:606519 MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 homozygous 11p15-p14 deletion syndrome OMIM:606528 hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:606545 collodion baby, self-healing OMIM:242100 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:606545 collodion baby, self-healing OMIM:242300 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 collodion baby, self-healing OMIM:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 3 OMIM:606545 ichthyosis, congenital, autosomal recessive 3 MONDO:Lexical, OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 5, formerly OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 ichthyosis, lamellar, 5, formerly OMIM:606545 @@ -15432,11 +13563,9 @@ MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:has MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose Transport defect, blood-brain barrier glucose Transport defect, blood-brain barrier glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 OMIM:606777 glucose Transport defect, blood-brain barrier OMIM:606777 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 MESH:C536830, GARD:0009265 glucose transport defect, blood-brain barrier OMIM:606777 MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 OMIM:606777 glut1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 GLUT1DS1 OMIM:606777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome GARD:0009265 GLUT1 deficiency syndrome OMIMPS:606777 MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Crigler-Najjar syndrome, type 2 Crigler-Najjar syndrome, type 2 crigler-najjar syndrome, type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 Crigler-Najjar syndrome, type 2 OMIM:606785 MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, crigler-najjar type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 hyperbilirubinemia, Crigler-Najjar type 2 OMIM:606785 MONDO:0011726 peripheral arterial occlusive disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Paod1 Paod1 paod1 OMIM:606787 peripheral arterial occlusive disease 1 OMIM:606787 Paod1 OMIM:606787 -MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:106210 aniridia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 AN OMIM:106210 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym anorexia nervosa, susceptibility to OMIM:606788 anorexia nervosa, susceptibility to OMIM:606788 anorexia nervosa, susceptibility to OMIM:606788 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 AN OMIM:606788 MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym ANON anon ANON OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 ANON OMIM:606788 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15497,9 +13626,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 OMIM:607088, MONDO:Lexical spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId CDG IId cdg iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091 CDG IId OMIM:607091 MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091, MONDO:Lexical congenital disorder of glycosylation, type IId OMIM:607091 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 OMIM:607095 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 anauxetic dysplasia 1 OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 30 OMIM:607101 deafness, autosomal recessive 30 OMIM:genemap2, MONDO:Lexical, OMIM:607101 deafness, autosomal recessive 30 OMIM:607101 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 OMIM:607101 deafness, autosomal recessive 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 DFNB30 OMIM:607101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Npca Npca npca OMIM:607107 nasopharyngeal carcinoma OMIM:607107 Npca OMIM:607107 @@ -15539,7 +13665,6 @@ MONDO:0011796 epilepsy, partial, with pericentral spikes oio:hasExactSynonym oio MONDO:0011797 infantile-onset ascending hereditary spastic paralysis oio:hasExactSynonym oio:hasRelatedSynonym spastic paralysis, infantile-onset ascending OMIM:607225 spastic paralysis, infantile-onset ascending OMIM:607225, MONDO:Lexical spastic paralysis, infantile-onset ascending OMIM:607225 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 33 OMIM:607239 deafness, autosomal recessive 33 OMIM:607239, OMIM:genemap2, MONDO:Lexical deafness, autosomal recessive 33 OMIM:607239 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym DFNB33 OMIM:607239 deafness, autosomal recessive 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607239, DOID:0110492 DFNB33 OMIM:607239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia, autosomal recessive, with axonal neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 MONDO:0011802 hypercalciuria, absorptive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Hca1 Hca1 hca1 OMIM:607258 hypercalciuria, absorptive, 1 OMIM:607258 Hca1 OMIM:607258 MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 7, autosomal recessive OMIM:607259 spastic paraplegia 7, autosomal recessive OMIM:607259, MONDO:Lexical spastic paraplegia 7, autosomal recessive OMIM:607259 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds ceds OMIM:607271 caspase 8 deficiency OMIM:607271 Ceds OMIM:607271 @@ -15559,7 +13684,6 @@ MONDO:0011813 polydactyly, postaxial, type A3 oio:hasExactSynonym oio:hasRelated MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 smith-mccort dysplasia 1 OMIM:607326 smith-mccort dysplasia 1 OMIM:607326 SMITH-McCort dysplasia 1 OMIM:607326 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC SMC smc OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326 SMC OMIM:607326 MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC1 Smc1 SMC1 OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326, MONDO:Lexical SMC1 OMIM:607326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia OMIMPS:607326 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 Smith-McCort dysplasia OMIMPS:607326 MONDO:0011815 hypertension, essential, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Hyt3 Hyt3 hyt3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:607329 Hyt3 OMIM:607329 MONDO:0011816 lathosterolosis oio:hasExactSynonym oio:hasRelatedSynonym Sc5D deficiency Sc5D deficiency sc5d deficiency OMIM:607330 lathosterolosis OMIM:607330 Sc5D deficiency OMIM:607330 MONDO:0011817 coronary heart disease, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Chds1 Chds1 chds1 OMIM:607339 coronary heart disease, susceptibility to, 1 OMIM:607339 Chds1 OMIM:607339 @@ -15638,14 +13762,12 @@ MONDO:0011862 hereditary spastic paraplegia 24 oio:hasExactSynonym oio:hasRelate MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 oio:hasExactSynonym oio:hasRelatedSynonym HPCqtl19 HPCqtl19 hpcqtl19 OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 OMIM:607592 HPCqtl19 OMIM:607592 MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym antibody deficiency due to Icos defect antibody deficiency due to Icos defect antibody deficiency due to icos defect OMIM:607594 immunodeficiency, common variable, 1 OMIM:607594 antibody deficiency due to Icos defect OMIM:607594 MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym CVID1 OMIM:607594 immunodeficiency, common variable, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607594 CVID1 OMIM:607594 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, common variable immunodeficiency, common variable Immunodeficiency, common variable OMIMPS:607594 Immunodeficiency, common variable OMIM:607594 immunodeficiency, common variable OMIMPS:607594 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym Pch1 Pch1 pch1 OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 Pch1 OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia, type 1a MONDO:Lexical, OMIM:607596 pontocerebellar hypoplasia, type 1A OMIM:607596 MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1A OMIM:607596 pontocerebellar hypoplasia, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596, MONDO:Lexical PCH1A OMIM:607596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, israeli bedouin type a OMIM:607598 lethal congenital contracture syndrome 2 OMIM:607598 multiple contracture syndrome, Israeli Bedouin type a OMIM:607598 -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 ichthyosis, annular epidermolytic, 1 OMIM:607602 ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B niemann-pick disease, type B OMIM:607616 niemann-pick disease, type B OMIM:607616 Niemann-PICK disease, type B OMIM:607616 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Griscelli syndrome, type 2 Griscelli syndrome, type 2 griscelli syndrome, type 2 OMIM:607624 griscelli syndrome, type 2 OMIM:607624, MONDO:Lexical Griscelli syndrome, type 2 OMIM:607624 MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 OMIM:607624 Paid syndrome OMIM:607624 @@ -15689,9 +13811,6 @@ MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CMT2 with vocal cord paresis, autosomal recessive CMT2 with vocal cord paresis, autosomal recessive cmt2 with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 CMT2 with vocal cord paresis, autosomal recessive OMIM:607706 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NSLH nslh OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 NSLH OMIM:607721 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 NSLH1 OMIM:607721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis, disseminated superficial actinic, 2 OMIM:607728 porokeratosis 4, disseminated superficial actinic type OMIM:607728 porokeratosis, disseminated superficial actinic, 2 OMIM:607728 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2H Charcot-Marie-Tooth disease, axonal, type 2H charcot-marie-tooth disease, axonal, type 2h OMIM:607731 charcot-marie-tooth disease, axonal, type 2h MONDO:Lexical, OMIM:607731 Charcot-Marie-Tooth disease, axonal, type 2H OMIM:607731 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 charcot-marie-tooth disease, axonal, type 2h OMIM:607731 Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 @@ -15766,10 +13885,8 @@ MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar atax MONDO:0011951 amyotrophic lateral sclerosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia MONDO:Lexical, OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 MONDO:Lexical, OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym IIAE3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608033, MONDO:Lexical IIAE3 OMIM:608033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute necrotizing, susceptibility to OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:608033 encephalopathy, acute necrotizing, susceptibility to OMIM:620461 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 oio:hasExactSynonym oio:hasRelatedSynonym noninsulin-dependent diabetes mellitus 4 OMIM:608036 type 2 diabetes mellitus 4 OMIM:608036 noninsulin-dependent diabetes mellitus 4 OMIM:608036 MONDO:0011957 retinal macular dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, retinal, 2 OMIM:608051 macular dystrophy, retinal, 2 MONDO:Lexical, OMIM:608051 macular dystrophy, retinal, 2 OMIM:608051 -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gomm-button disease Gomm-button disease gomm-button disease OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 Gomm-button disease OMIM:608068 MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym neutrophilic dermatosis, acute febrile OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15783,7 +13900,6 @@ MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oi MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type ij OMIM:608093 congenital disorder of glycosylation, type ij OMIM:608093, MONDO:Lexical congenital disorder of glycosylation, type Ij OMIM:608093 MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym Ftle Ftle ftle OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096 Ftle OMIM:608096 MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe, 2 OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096, MONDO:Lexical epilepsy, familial temporal lobe, 2 OMIM:608096 -MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe epilepsy, familial temporal lobe Epilepsy, familial temporal lobe OMIMPS:600512 Epilepsy, familial temporal lobe GARD:0005135 epilepsy, familial temporal lobe OMIMPS:600512 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym heterotopia, periventricular, autosomal recessive OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 heterotopia, periventricular, autosomal recessive OMIM:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym periventricular nodular heterotopia 2 OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 periventricular nodular heterotopia 2 OMIM:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ARPHM OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608097 ARPHM OMIM:608097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15844,15 +13960,12 @@ MONDO:0012011 coronary artery disease, autosomal dominant, 1 oio:hasExactSynonym MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate C Charcot-Marie-Tooth disease, dominant intermediate C charcot-marie-tooth disease, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323, MONDO:Lexical Charcot-Marie-Tooth disease, dominant intermediate C OMIM:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate C Charcot-Marie-Tooth neuropathy, dominant Intermediate C charcot-marie-tooth neuropathy, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 Charcot-Marie-Tooth neuropathy, dominant Intermediate C OMIM:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Di-Cmtc Di-Cmtc di-cmtc OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 Di-Cmtc OMIM:608323 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 mesodermal Dysmorphodystrophy, congenital OMIM:277600 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 spherophakia-brachymorphia syndrome OMIM:277600 MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 mesodermal Dysmorphodystrophy, congenital OMIM:608328 MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 spherophakia-brachymorphia syndrome OMIM:608328 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, recessive intermediate A charcot-marie-tooth disease, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340, MONDO:Lexical Charcot-Marie-Tooth disease, recessive intermediate A OMIM:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, recessive Intermediate a Charcot-Marie-Tooth neuropathy, recessive Intermediate a charcot-marie-tooth neuropathy, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 Charcot-Marie-Tooth neuropathy, recessive Intermediate a OMIM:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Ri-Cmta Ri-Cmta ri-cmta OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 Ri-Cmta OMIM:608340 MONDO:0012015 nystagmus 3, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 3, congenital, autosomal dominant NYSTAGMUS 3, congenital, autosomal dominant nystagmus 3, congenital, autosomal dominant OMIM:608345 nystagmus 3, congenital, autosomal dominant MONDO:Lexical, OMIM:608345 NYSTAGMUS 3, congenital, autosomal dominant OMIM:608345 -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation OMIM:608354 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation OMIMPS:608354 MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK Sedk SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -15900,7 +14013,6 @@ MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelated MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A4 postaxial polydactyly, type A4 postaxial polydactyly, type a4 OMIM:608562 polydactyly, postaxial, type a4 OMIM:608562 postaxial polydactyly, type A4 OMIM:608562 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 35 OMIM:608565 deafness, autosomal recessive 35 MONDO:Lexical, OMIM:608565, OMIM:genemap2 deafness, autosomal recessive 35 OMIM:608565 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym DFNB35 OMIM:608565 deafness, autosomal recessive 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110493, MONDO:Lexical, OMIM:608565 DFNB35 OMIM:608565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012061 familial sick sinus syndrome oio:hasExactSynonym oio:hasRelatedSynonym SSS1 OMIM:608567 sick sinus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608567 SSS1 OMIM:608567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1o OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569, MONDO:Lexical cardiomyopathy, dilated, 1O OMIM:608569 MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569 cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ulnar/fibular RAY defect and brachydactyly ulnar/fibular RAY defect and brachydactyly ulnar/fibular ray defect and brachydactyly OMIM:608571 ulnar/fibular ray defect and brachydactyly OMIM:608571 ulnar/fibular RAY defect and brachydactyly OMIM:608571 @@ -15984,13 +14096,6 @@ MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym o MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome oio:hasExactSynonym oio:hasRelatedSynonym sudden infant death with dysgenesis of the testes syndrome OMIM:608800 sudden infant death with dysgenesis of the testes syndrome MONDO:Lexical, OMIM:608800 sudden infant death with dysgenesis of the testes syndrome OMIM:608800 MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Pelizaeus-Merzbacher-like disease, 1 Pelizaeus-Merzbacher-like disease, 1 pelizaeus-merzbacher-like disease, 1 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804 Pelizaeus-Merzbacher-like disease, 1 OMIM:608804 MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 2 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804, MONDO:Lexical leukodystrophy, hypomyelinating, 2 OMIM:608804 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary, 1 avascular NECROSIS of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular NECROSIS of femoral head, primary, 1 OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular Necrosis of femoral head, primary, 1 avascular Necrosis of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular Necrosis of femoral head, primary, 1 OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, aseptic Necrosis of femoral head, aseptic Necrosis of femoral head, aseptic necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 femoral head, aseptic Necrosis of OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, avascular Necrosis of femoral head, avascular Necrosis of femoral head, avascular necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 femoral head, avascular Necrosis of OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ischemic Necrosis of femoral head ischemic Necrosis of femoral head ischemic necrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 ischemic Necrosis of femoral head OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym osteonecrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 osteonecrosis of femoral head OMIM:608805 -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ANFH1 OMIM:608805 avascular necrosis of femoral head, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608805 ANFH1 OMIM:608805 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary avascular NECROSIS of femoral head, primary Avascular necrosis of femoral head, primary OMIMPS:608805 Avascular necrosis of femoral head, primary OMIM:608805, MONDO:Lexical avascular NECROSIS of femoral head, primary OMIMPS:608805 MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema oio:hasExactSynonym oio:hasRelatedSynonym LACH OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608809, MONDO:Lexical LACH OMIM:608809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 2 OMIM:608810 myopathy, myofibrillar, 2 OMIM:608810, MONDO:Lexical myopathy, myofibrillar, 2 OMIM:608810 @@ -16017,8 +14122,6 @@ MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSyno MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:608885 cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym SDCHCN OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608885 SDCHCN OMIM:608885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym ARMD3 OMIM:608895 macular degeneration, age-related, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608895 ARMD3 OMIM:608895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 neuropathy, hereditary, with or without age-related macular Degeneration OMIM:619764 -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hlh3 Hlh3 hlh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 Hlh3 OMIM:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hplh3 Hplh3 hplh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 Hplh3 OMIM:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 MONDO:Lexical, OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 @@ -16027,7 +14130,6 @@ MONDO:0012147 coronary heart disease, susceptibility to, 5 oio:hasExactSynonym o MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, late-onset Alzheimer disease 9, late-onset alzheimer disease 9, late-onset OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 Alzheimer disease 9, late-onset OMIM:608907 MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, susceptibility to Alzheimer disease 9, susceptibility to alzheimer disease 9, susceptibility to OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 Alzheimer disease 9, susceptibility to OMIM:608907 MONDO:0012154 myopia 6 oio:hasExactSynonym oio:hasRelatedSynonym MYP6 OMIM:608908 myopia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608908 MYP6 OMIM:608908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA OMIM:105250 MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym choanal atresia, POSTERIOR choanal atresia, POSTERIOR choanal atresia, posterior OMIM:608911 choanal atresia, posterior OMIM:608911, MONDO:Lexical choanal atresia, POSTERIOR OMIM:608911 MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 myasthenic syndrome, congenital, 1B, FAST-channel OMIM:608930 @@ -16041,7 +14143,6 @@ MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-shaped pigmentary, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, butterfly-Shaped pigmentary, 2 OMIM:608970 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:608971 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:608971 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies MONDO:Lexical, OMIM:608980 bifid NOSE with or without anorectal and renal anomalies OMIM:608980 MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym BNAR OMIM:608980 bifid nose with or without anorectal and renal anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608980 BNAR OMIM:608980 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym Adsa Adsa adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant OMIM:608984 Adsa OMIM:608984 @@ -16049,12 +14150,9 @@ MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRel MONDO:0012169 premature ovarian failure 3 oio:hasExactSynonym oio:hasRelatedSynonym POF3 Pof3 POF3 OMIM:608996 premature ovarian failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608996 POF3 OMIM:608996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006, MONDO:Lexical deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym DFNB36 OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609006, MONDO:Lexical, DOID:0110494 DFNB36 OMIM:609006 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym trifunctional Protein deficiency trifunctional Protein deficiency trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional protein deficiency 1 OMIM:609015 trifunctional Protein deficiency OMIM:609015 -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym MTPD MTPD mtpd OMIM:609015 mitochondrial trifunctional protein deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609015 MTPD OMIM:609015 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency OMIMPS:609015 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency OMIMPS:609015 MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:609016 MONDO:0012175 cataract 28 oio:hasExactSynonym oio:hasRelatedSynonym cataract, age-related cortical, 1 OMIM:609026 cataract 28 OMIM:609026 cataract, age-related cortical, 1 OMIM:609026 -MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:609029 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym supernumerary Der(22)T(11 supernumerary Der(22)T(11 supernumerary der(22)t(11 OMIM:609029 emanuel syndrome OMIM:609029 supernumerary Der(22)T(11 OMIM:609029 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym POSTERIOR column ataxia with retinitis pigmentosa POSTERIOR column ataxia with retinitis pigmentosa posterior column ataxia with retinitis pigmentosa OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033, MONDO:Lexical POSTERIOR column ataxia with retinitis pigmentosa OMIM:609033 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pcarp Pcarp pcarp OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033 Pcarp OMIM:609033 @@ -16096,7 +14194,6 @@ MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia East London pseudohyperkalemia East London pseudohyperkalemia east london OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia East London OMIM:609153 MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Falkirk pseudohyperkalemia Falkirk pseudohyperkalemia falkirk OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia Falkirk OMIM:609153 MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Lille pseudohyperkalemia Lille pseudohyperkalemia lille OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 pseudohyperkalemia Lille OMIM:609153 -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 oio:hasExactSynonym oio:hasRelatedSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant MONDO:Lexical, OMIM:609161 striatal degeneration, autosomal dominant OMIMPS:609161 MONDO:0012207 umbilicus, familial flat oio:hasExactSynonym oio:hasRelatedSynonym flat umbilicus, autosomal dominant OMIM:609164 umbilicus, familial flat OMIM:609164 flat umbilicus, autosomal dominant OMIM:609164 MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, congenital reticular OMIM:609165 ichthyosis with confetti OMIM:609165, MONDO:Lexical erythroderma, ichthyosiform, congenital reticular OMIM:609165 MONDO:0012209 branchiogenic deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRANCHIOGENIC-deafness syndrome BRANCHIOGENIC-deafness syndrome branchiogenic-deafness syndrome OMIM:609166 branchiogenic-deafness syndrome OMIM:609166 BRANCHIOGENIC-deafness syndrome OMIM:609166 @@ -16107,7 +14204,6 @@ MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 5 OMIM:609192 loeys-dietz syndrome 1 OMIM:609192 aortic aneurysm, familial thoracic 5 OMIM:609192 MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LDS1 OMIM:609192 loeys-dietz syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609192 LDS1 OMIM:609192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012213 hereditary spastic paraplegia 26 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 26, autosomal recessive OMIM:609195 spastic paraplegia 26, autosomal recessive OMIM:609195, MONDO:Lexical spastic paraplegia 26, autosomal recessive OMIM:609195 -MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 OMIM:609197 glucocorticoid deficiency 2 OMIM:607398 MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym familial glucocorticoid deficiency 3 OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 familial glucocorticoid deficiency 3 OMIM:609197 MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2, formerly OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 glucocorticoid deficiency 2, formerly OMIM:609197 MONDO:0012215 myofibrillar myopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 3 OMIM:609200 myopathy, myofibrillar, 3 OMIM:609200, MONDO:Lexical myopathy, myofibrillar, 3 OMIM:609200 @@ -16148,7 +14244,6 @@ MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 oio:hasExactSynonym o MONDO:0012237 nemaline myopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym NEM6 OMIM:609273 nemaline myopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609273 NEM6 OMIM:609273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM:609283 progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOA2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609283, MONDO:Lexical PEOA2 OMIM:609283 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012239 congenital myopathy 4B, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 1 OMIM:255310 congenital myopathy 4a, autosomal dominant MONDO:Lexical, OMIM:609284 nemaline myopathy 1 OMIM:255310 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM:609286 progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym PEOA3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609286, MONDO:Lexical PEOA3 OMIM:609286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012242 syncope, familial vasovagal oio:hasExactSynonym oio:hasRelatedSynonym syncope, familial Neurocardiogenic syncope, familial Neurocardiogenic syncope, familial neurocardiogenic OMIM:609289 syncope, familial vasovagal OMIM:609289 syncope, familial Neurocardiogenic OMIM:609289 @@ -16239,7 +14334,6 @@ MONDO:0012314 short QT syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012315 distal 10q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal chromosome 10Q26 deletion syndrome terminal chromosome 10Q26 deletion syndrome terminal chromosome 10q26 deletion syndrome OMIM:609625 chromosome 10q26 deletion syndrome OMIM:609625 terminal chromosome 10Q26 deletion syndrome OMIM:609625 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome majeed syndrome OMIM:609628 majeed syndrome OMIM:609628 MAJEED syndrome OMIM:609628 MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MJDS OMIM:609628 majeed syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609628 MJDS OMIM:609628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, idiopathic intestinal OMIM:155310 visceral myopathy 1 OMIM:609629 pseudoobstruction, idiopathic intestinal OMIM:155310 MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym enteric neuropathy, familial OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 enteric neuropathy, familial OMIM:609629 MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Clls1 Clls1 clls1 OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 OMIM:609630 Clls1 OMIM:609630 @@ -16273,7 +14367,6 @@ MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 22, multiple types OMIM:609741 cataract 22, multiple types OMIM:609741, MONDO:Lexical cataract 22, multiple types OMIM:609741 MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 cataract 22, multiple types OMIM:609741 cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 celiac disease, susceptibility to, 4 OMIM:609753 gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym CELIAC4 OMIM:609753 celiac disease, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609753 CELIAC4 OMIM:609753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012340 celiac disease, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 celiac disease, susceptibility to, 2 OMIM:609754 gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 @@ -16307,9 +14400,6 @@ MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynon MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym oio:hasNarrowSynonym DFNB28 OMIM:609823 deafness, autosomal recessive 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609823, DOID:0110486 DFNB28 OMIM:609823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012358 leprosy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym leprosy, Paucibacillary type, susceptibility to, 1 leprosy, Paucibacillary type, susceptibility to, 1 leprosy, paucibacillary type, susceptibility to, 1 OMIM:609888 leprosy, susceptibility to, 1 OMIM:609888 leprosy, Paucibacillary type, susceptibility to, 1 OMIM:609888 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity OMIM:609889 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 resistance to thyrotropin OMIM:218700 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 thyrotropin resistance OMIM:218700 -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:609893 thyrotropin resistance OMIM:275200 MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 resistance to thyrotropin OMIM:609893 MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 thyrotropin resistance OMIM:609893 MONDO:0012364 dilated cardiomyopathy 1Q oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1q OMIM:609915 cardiomyopathy, dilated, 1q MONDO:Lexical, OMIM:609915 cardiomyopathy, dilated, 1Q OMIM:609915 @@ -16327,9 +14417,6 @@ MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynony MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynonym oio:hasNarrowSynonym DFNA53 OMIM:609965 deafness, autosomal dominant 53 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609965, DOID:0110579 DFNA53 OMIM:609965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968, MONDO:Lexical hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym HHF5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609968 HHF5 OMIM:609968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HADH deficiency HADH deficiency hadh deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency GARD:0009870, MESH:C535310, OMIM:231530 HADH deficiency OMIM:231530 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency, formerly SCHAD deficiency, formerly schad deficiency, formerly OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 SCHAD deficiency, formerly OMIM:231530 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 HHF4 OMIM:609975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 OMIM:609981 immunodeficiency 54 OMIM:609981 immunodeficiency 54 OMIM:609981 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural killer cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 immunodeficiency 54 OMIM:609981, MONDO:Lexical natural KILLER cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 @@ -16343,7 +14430,6 @@ MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym me MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 trichoscyphodysplasia OMIM:609990 metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 OMIM:600143 ceroid lipofuscinosis, neuronal, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 CLN8 OMIM:600143 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant OMIM:610003 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive, with mental retardation OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:610003 epilepsy, progressive, with mental retardation OMIM:610003 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym 2-methylbutyryl Glycinuria 2-methylbutyryl Glycinuria 2-methylbutyryl glycinuria OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency OMIM:610006 2-methylbutyryl Glycinuria OMIM:610006 @@ -16371,7 +14457,6 @@ MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:ha MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, plp-sensitive OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency OMIM:610090 seizures, pyridoxine-resistant, PLP-sensitive OMIM:610090 MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym PNPOD OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610090 PNPOD OMIM:610090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012408 microphthalmia, isolated, with coloboma 3 oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB3 OMIM:610092 microphthalmia/coloboma 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610092, MONDO:Lexical MCOPCB3 OMIM:610092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:610093 anophthalmia, clinical, isolated OMIM:251600 MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:610093 anophthalmia, clinical, isolated OMIM:610093 MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 2 OMIM:610093 microphthalmia, isolated 2 OMIM:610093, MONDO:Lexical microphthalmia, isolated 2 OMIM:610093 MONDO:0012410 Finnish upper limb-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 3 OMIM:610099 myopathy, distal, 3 MONDO:Lexical, OMIM:610099 myopathy, distal, 3 OMIM:610099 @@ -16398,11 +14483,6 @@ MONDO:0012423 MORM syndrome oio:hasExactSynonym oio:hasRelatedSynonym MORMS OM MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym Fcd1 locus Fcd1 locus fcd1 locus OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 Fcd1 locus OMIM:610158 MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 2 OMIM:610158 MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:610158 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 MONDO:0012426 immunodeficiency 25 oio:hasExactSynonym oio:hasRelatedSynonym IMD25 OMIM:610163 immunodeficiency 25 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610163 IMD25 OMIM:610163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Marfan syndrome, type II, formerly Marfan syndrome, type II, formerly marfan syndrome, type ii, formerly OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 Marfan syndrome, type II, formerly OMIM:610168 MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 3 OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 aortic aneurysm, familial thoracic 3 OMIM:610168 @@ -16503,14 +14583,12 @@ MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:has MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, rhodopsin-related OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 OMIM:610445 night blindness, congenital stationary, rhodopsin-related OMIM:610445 MONDO:0012499 Buruli ulcer, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Mycobacterium ulcerans, susceptibility to Mycobacterium ulcerans, susceptibility to mycobacterium ulcerans, susceptibility to OMIM:610446 buruli ulcer, susceptibility to OMIM:610446 Mycobacterium ulcerans, susceptibility to OMIM:610446 MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasRelatedSynonym CHBL1 OMIM:610448 chilblain lupus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610448 CHBL1 OMIM:610448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasBroadSynonym chilblain lupus chilblain lupus Chilblain lupus OMIMPS:610448 Chilblain lupus OMIM:610448, OMIM:genemap2 chilblain lupus OMIMPS:610448 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with normophosphatemia OMIM:610455 tumoral calcinosis, normophosphatemic, familial OMIM:610455 calcinosis, tumoral, with Normophosphatemia OMIM:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym tumoral calcinosis, normophosphatemic, familial OMIM:610455 tumoral calcinosis, normophosphatemic, familial MONDO:Lexical, OMIM:610455 tumoral calcinosis, normophosphatemic, familial OMIM:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym NFTC OMIM:610455 tumoral calcinosis, normophosphatemic, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610455 NFTC OMIM:610455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of, 1 Thiopurines, poor metabolism of, 1 thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 Thiopurines, poor metabolism of, 1 OMIM:610460 MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym THPM1 OMIM:610460 thiopurines, poor metabolism of, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610460 THPM1 OMIM:610460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of OMIMPS:610460 Thiopurines, poor metabolism of OMIM:610460 Thiopurines, poor metabolism of OMIMPS:610460 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym CATSHLS OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610474 CATSHLS OMIM:610474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Cushing syndrome, adrenal, due to PPNAD2 Cushing syndrome, adrenal, due to PPNAD2 cushing syndrome, adrenal, due to ppnad2 OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 OMIM:610475 Cushing syndrome, adrenal, due to PPNAD2 OMIM:610475 @@ -16545,7 +14623,6 @@ MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRela MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 MONDO:0012522 diabetes mellitus, transient neonatal, 3 oio:hasExactSynonym oio:hasRelatedSynonym Tndm3 Tndm3 tndm3 OMIM:610582 diabetes mellitus, transient neonatal, 3 OMIM:610582 Tndm3 OMIM:610582 -MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:610600 hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 18-oxidase deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 18-oxidase deficiency OMIM:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cmo 2 deficiency Cmo 2 deficiency cmo 2 deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 Cmo 2 deficiency OMIM:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 2 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 aldosterone deficiency 2 OMIM:610600 @@ -16690,15 +14767,8 @@ MONDO:0012638 microphthalmia-brain atrophy syndrome oio:hasExactSynonym oio:hasR MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and joint contractures OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225 intellectual disability, motor dysfunction, and Joint contractures OMIM:611225 MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 18, autosomal recessive OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225, MONDO:Lexical spastic paraplegia 18, autosomal recessive OMIM:611225 MONDO:0012640 Charcot-Marie-Tooth disease type 4J oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal recessive, type 4J Charcot-Marie-Tooth disease, autosomal recessive, type 4J charcot-marie-tooth disease, autosomal recessive, type 4j OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j OMIM:611228 Charcot-Marie-Tooth disease, autosomal recessive, type 4J OMIM:611228 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611247 bipolar affective disorder OMIM:125480 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611247 bipolar affective disorder OMIM:309200 MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 4 MAJOR affective disorder 4 major affective disorder 4 OMIM:611247 major affective disorder 4 OMIM:611247 MAJOR affective disorder 4 OMIM:611247 MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611247 bipolar affective disorder OMIM:611247 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611247 bipolar affective disorder OMIM:611535 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611247 bipolar affective disorder OMIM:611536 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611247 bipolar affective disorder OMIM:612357 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611247 bipolar affective disorder OMIM:612371 -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611247 bipolar affective disorder OMIM:612372 MONDO:0012643 hereditary spastic paraplegia 32 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 32, autosomal recessive OMIM:611252 spastic paraplegia 32, autosomal recessive MONDO:Lexical, OMIM:611252 spastic paraplegia 32, autosomal recessive OMIM:611252 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acad8 deficiency Acad8 deficiency acad8 deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 Acad8 deficiency OMIM:611283 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym IBD deficiency IBD deficiency ibd deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 IBD deficiency OMIM:611283 @@ -16743,24 +14813,10 @@ MONDO:0012681 febrile seizures, familial, 7 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523 encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 6 OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523, MONDO:Lexical pontocerebellar hypoplasia, type 6 OMIM:611523 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528, MONDO:Lexical arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611535 bipolar affective disorder OMIM:125480 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611535 bipolar affective disorder OMIM:309200 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611535 bipolar affective disorder OMIM:611247 MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 5 MAJOR affective disorder 5 major affective disorder 5 OMIM:611535 major affective disorder 5 OMIM:611535 MAJOR affective disorder 5 OMIM:611535 MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611535 bipolar affective disorder OMIM:611535 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611535 bipolar affective disorder OMIM:611536 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611535 bipolar affective disorder OMIM:612357 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611535 bipolar affective disorder OMIM:612371 -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611535 bipolar affective disorder OMIM:612372 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611536 bipolar affective disorder OMIM:125480 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611536 bipolar affective disorder OMIM:309200 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611536 bipolar affective disorder OMIM:611247 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611536 bipolar affective disorder OMIM:611535 MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 6 MAJOR affective disorder 6 major affective disorder 6 OMIM:611536 major affective disorder 6 OMIM:611536 MAJOR affective disorder 6 OMIM:611536 MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611536 bipolar affective disorder OMIM:611536 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611536 bipolar affective disorder OMIM:612357 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611536 bipolar affective disorder OMIM:612371 -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611536 bipolar affective disorder OMIM:612372 MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym cavitary optic DISC anomalies cavitary optic DISC anomalies cavitary optic disc anomalies OMIM:611543 cavitary optic disc anomalies OMIM:611543, MONDO:Lexical cavitary optic DISC anomalies OMIM:611543 MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym CODA OMIM:611543 cavitary optic disc anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:611543 CODA OMIM:611543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012688 cataract 17 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 17, multiple types OMIM:611544 cataract 17, multiple types OMIM:611544, MONDO:Lexical cataract 17, multiple types OMIM:611544 @@ -16855,7 +14911,6 @@ MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:ha MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 MONDO:0012758 prostate cancer, hereditary, 13 oio:hasExactSynonym oio:hasRelatedSynonym HPC13 OMIM:611928 prostate cancer, hereditary, 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611928, MONDO:Lexical HPC13 OMIM:611928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 camptodactyly syndrome, Guadalajara, type 3 OMIM:611929 -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 3q29 DUPLICATION syndrome chromosome 3q29 DUPLICATION syndrome chromosome 3q29 duplication syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 chromosome 3q29 DUPLICATION syndrome OMIM:611936 MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym microduplication 3Q29 syndrome microduplication 3Q29 syndrome microduplication 3q29 syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 microduplication 3Q29 syndrome OMIM:611936 @@ -16975,34 +15030,13 @@ MONDO:0012874 porokeratosis 6, disseminated superficial actinic type oio:hasExac MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf 2 deficiency Hcf 2 deficiency hcf 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 Hcf 2 deficiency OMIM:612356 MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf2 deficiency Hcf2 deficiency hcf2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 Hcf2 deficiency OMIM:612356 MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612357 bipolar affective disorder OMIM:125480 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612357 bipolar affective disorder OMIM:309200 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612357 bipolar affective disorder OMIM:611247 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612357 bipolar affective disorder OMIM:611535 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612357 bipolar affective disorder OMIM:611536 MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 8 MAJOR affective disorder 8 major affective disorder 8 OMIM:612357 major affective disorder 8 OMIM:612357 MAJOR affective disorder 8 OMIM:612357 MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612357 bipolar affective disorder OMIM:612357 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612357 bipolar affective disorder OMIM:612371 -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612357 bipolar affective disorder OMIM:612372 MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym Sczd14 Sczd14 sczd14 OMIM:612361 schizophrenia 14 OMIM:612361 Sczd14 OMIM:612361 MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2q32-related OMIM:612361 schizophrenia 14 OMIM:612361 schizophrenia susceptibility locus, chromosome 2Q32-related OMIM:612361 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH5 OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612370, MONDO:Lexical HH5 OMIM:612370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612371 bipolar affective disorder OMIM:125480 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612371 bipolar affective disorder OMIM:309200 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612371 bipolar affective disorder OMIM:611247 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612371 bipolar affective disorder OMIM:611535 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612371 bipolar affective disorder OMIM:611536 -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612371 bipolar affective disorder OMIM:612357 MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612371 bipolar affective disorder OMIM:612371 MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym MAFD7 OMIM:612371 major affective disorder 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612371, MONDO:Lexical MAFD7 OMIM:612371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612371 bipolar affective disorder OMIM:612372 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612372 bipolar affective disorder OMIM:125480 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612372 bipolar affective disorder OMIM:309200 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612372 bipolar affective disorder OMIM:611247 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612372 bipolar affective disorder OMIM:611535 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612372 bipolar affective disorder OMIM:611536 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612372 bipolar affective disorder OMIM:612357 -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612372 bipolar affective disorder OMIM:612371 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 9 MAJOR affective disorder 9 major affective disorder 9 OMIM:612372 major affective disorder 9 OMIM:612372 MAJOR affective disorder 9 OMIM:612372 MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612372 bipolar affective disorder OMIM:612372 MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute promyelocytic OMIM:612376 acute promyelocytic leukemia OMIM:612376 leukemia, acute promyelocytic OMIM:612376 @@ -17070,15 +15104,12 @@ MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 oio:hasExact MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Clls3 Clls3 clls3 OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 OMIM:612557 Clls3 OMIM:612557 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym Clls4 Clls4 clls4 OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 OMIM:612558 Clls4 OMIM:612558 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym Clls5 Clls5 clls5 OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 OMIM:612559 Clls5 OMIM:612559 -MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:105650 diamond-blackfan anemia 1 OMIM:612561 Aase-Smith syndrome 2 OMIM:105650 MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:612561 Aase-Smith syndrome 2 OMIM:612561 MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym DBA6 OMIM:612561 diamond-blackfan anemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612561 DBA6 OMIM:612561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012938 Diamond-Blackfan anemia 7 oio:hasExactSynonym oio:hasRelatedSynonym DBA7 OMIM:612562 diamond-blackfan anemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612562 DBA7 OMIM:612562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012939 Diamond-Blackfan anemia 8 oio:hasExactSynonym oio:hasRelatedSynonym DBA8 OMIM:612563 diamond-blackfan anemia 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612563 DBA8 OMIM:612563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease 25, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive MONDO:Lexical, OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:612567 MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:612567 inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0012942 lung cancer susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of lung, susceptibility to OMIM:612571 lung cancer susceptibility 3 OMIM:612571 adenocarcinoma of lung, susceptibility to OMIM:612571 MONDO:0012943 retinitis pigmentosa 46 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, idh3b-related OMIM:612572 retinitis pigmentosa 46 OMIM:612572 retinitis pigmentosa, autosomal recessive, Idh3B-related OMIM:612572 MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation with long bone deficiency 3 OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome OMIM:612576 split-hand/foot malformation with long bone deficiency 3 OMIM:612576 @@ -17093,39 +15124,20 @@ MONDO:0012953 colorectal cancer, susceptibility to, 10 oio:hasExactSynonym oio:h MONDO:0012954 colorectal cancer, susceptibility to, 11 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20p OMIM:612592 colorectal cancer, susceptibility to, 11 OMIM:612592 colorectal cancer, susceptibility to, on chromosome 20P OMIM:612592 MONDO:0012960 intellectual disability, autosomal dominant 5 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 5 OMIM:612621 intellectual developmental disorder, autosomal dominant 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:612621 mental retardation, autosomal dominant 5 OMIM:612621 MONDO:0012961 type 1 diabetes mellitus 23 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-dependent, 23 OMIM:612622 type 1 diabetes mellitus 23 MONDO:Lexical, OMIM:612622 diabetes mellitus, insulin-dependent, 23 OMIM:612622 -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 end-stage renal disease, diabetic, susceptibility to OMIM:612623 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym MVCD2 OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612623 MVCD2 OMIM:612623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612623 end-stage renal disease, diabetic, susceptibility to OMIM:612624 -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612623 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612624 end-stage renal disease, diabetic, susceptibility to OMIM:612623 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 end-stage renal disease, diabetic, susceptibility to OMIM:612624 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612624 MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym MVCD3 OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612624 MVCD3 OMIM:612624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612624 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012965 seizures, benign familial infantile, 4 oio:hasExactSynonym oio:hasRelatedSynonym convulsions, benign familial infantile, 4 OMIM:612627 seizures, benign familial infantile, 4 OMIM:612627 convulsions, benign familial infantile, 4 OMIM:612627 -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612624 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612628 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym MVCD4 OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612628 MVCD4 OMIM:612628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612634 -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612628 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ADENYLATE KINASE deficiency, hemolytic anemia due to ADENYLATE KINASE deficiency, hemolytic anemia due to adenylate kinase deficiency, hemolytic anemia due to OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 OMIM:612631 ADENYLATE KINASE deficiency, hemolytic anemia due to OMIM:612631 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, diabetic, susceptibility to OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 OMIM:612633 retinopathy, diabetic, susceptibility to OMIM:612633 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym MVCD5 OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612633 MVCD5 OMIM:612633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612628 MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612634 MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym MVCD6 OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612634 MVCD6 OMIM:612634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612634 nephropathy, diabetic, susceptibility to OMIM:612635 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:603933 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:612623 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612624 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612628 -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612634 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 nephropathy, diabetic, susceptibility to OMIM:612635 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 proliferative retinopathy, diabetic, susceptibility to OMIM:612635 @@ -17258,7 +15270,6 @@ MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit de MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oio:hasExactSynonym oio:hasRelatedSynonym GSD11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:612933, MESH:C538133 GSD11 OMIM:612933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 spastic paraplegia 50, autosomal recessive OMIM:612936 cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 50, autosomal recessive OMIM:612936 spastic paraplegia 50, autosomal recessive MONDO:Lexical, OMIM:612936 spastic paraplegia 50, autosomal recessive OMIM:612936 -MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3 OMIM:617008 cerebral palsy, spastic quadriplegic, 3 OMIM:612936 cerebral palsy, spastic quadriplegic, 3 OMIM:617008 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG Io CDG Io cdg io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 CDG Io OMIM:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Cdg1(Dpm3) Cdg1(Dpm3) cdg1(dpm3) OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 Cdg1(Dpm3) OMIM:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937, MONDO:Lexical congenital disorder of glycosylation, type Io OMIM:612937 @@ -17307,10 +15318,8 @@ MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 3 OMIM:613008 biliary cirrhosis, primary, 3 OMIM:613008, MONDO:Lexical biliary cirrhosis, primary, 3 OMIM:613008 MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym PBC3 OMIM:613008 biliary cirrhosis, primary, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613008, MONDO:Lexical PBC3 OMIM:613008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013083 neuroblastoma, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym NBLST3 OMIM:613014 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613014, MONDO:Lexical NBLST3 OMIM:613014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613021 cystic fibrosis-like syndrome OMIM:211400 MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613021 cystic fibrosis-like syndrome OMIM:613021 MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym BESC2 OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613021 BESC2 OMIM:613021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613021 cystic fibrosis-like syndrome OMIM:613071 MONDO:0013091 glycogen storage disease IXc oio:hasExactSynonym oio:hasRelatedSynonym GSD IXc GSD IXc gsd ixc OMIM:613027 glycogen storage disease ixc OMIM:613027 GSD IXc OMIM:613027 MONDO:0013092 glioma susceptibility 2 oio:hasExactSynonym oio:hasRelatedSynonym GLM2 OMIM:613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613028, MONDO:Lexical GLM2 OMIM:613028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013093 glioma susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym GLM3 OMIM:613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613029, MONDO:Lexical GLM3 OMIM:613029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17320,8 +15329,6 @@ MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 oio:hasExactSyno MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 MONDO:Lexical, OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym ALL2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613067, MONDO:Lexical ALL2 OMIM:613067 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency oio:hasExactSynonym oio:hasRelatedSynonym neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate transport deficiency OMIM:613068 neurodegeneration due to cerebral folate transport deficiency OMIM:613068 neurodegeneration due to cerebral folate TRANSPORT deficiency OMIM:613068 -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613071 cystic fibrosis-like syndrome OMIM:211400 -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613071 cystic fibrosis-like syndrome OMIM:613021 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613071 cystic fibrosis-like syndrome OMIM:613071 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym BESC3 OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613071, MONDO:Lexical BESC3 OMIM:613071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013113 metaphyseal anadysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MANDP2 OMIM:613073 metaphyseal anadysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613073 MANDP2 OMIM:613073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17409,11 +15416,8 @@ MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oi MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oio:hasRelatedSynonym ASRT8 OMIM:613207 asthma-related traits, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613207, MONDO:Lexical ASRT8 OMIM:613207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211, MONDO:Lexical amelogenesis imperfecta, hypomaturation type, IIA3 OMIM:613211 MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 chromosome 17p13.3, centromeric, DUPLICATION syndrome OMIM:613215 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613216 CSNB, complete, autosomal recessive OMIM:257270 MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613216 CSNB, complete, autosomal recessive OMIM:613216 MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1c OMIM:613216 night blindness, congenital stationary, type 1c MONDO:Lexical, OMIM:613216 night blindness, congenital stationary, type 1C OMIM:613216 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613216 CSNB, complete, autosomal recessive OMIM:613830 -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613216 CSNB, complete, autosomal recessive OMIM:614565 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 5, with tufting enteropathy, congenital OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217, MONDO:Lexical diarrhea 5, with tufting enteropathy, congenital OMIM:613217 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym enteropathy, congenital tufting OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 enteropathy, congenital tufting OMIM:613217 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym intestinal epithelial cell dysplasia OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 intestinal epithelial cell dysplasia OMIM:613217 @@ -17432,41 +15436,16 @@ MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4B, with Hirschsprung disease Waardenburg syndrome, type 4B, with Hirschsprung disease waardenburg syndrome, type 4b, with hirschsprung disease OMIM:613265 waardenburg syndrome, type 4b OMIM:613265 Waardenburg syndrome, type 4B, with Hirschsprung disease OMIM:613265 MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome with Hirschsprung disease, type 4C Waardenburg syndrome with Hirschsprung disease, type 4C waardenburg syndrome with hirschsprung disease, type 4c OMIM:613266 waardenburg syndrome, type 4c OMIM:613266 Waardenburg syndrome with Hirschsprung disease, type 4C OMIM:613266 MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4C Waardenburg syndrome, type 4C waardenburg syndrome, type 4c OMIM:613266 waardenburg syndrome, type 4c MONDO:Lexical, OMIM:613266 Waardenburg syndrome, type 4C OMIM:613266 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym Fcd2 locus Fcd2 locus fcd2 locus OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 Fcd2 locus OMIM:613267 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym FECD3 OMIM:613267 corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613267, MONDO:Lexical FECD3 OMIM:613267 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613267 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FECD4 OMIM:613268 corneal dystrophy, fuchs endothelial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613268, MONDO:Lexical FECD4 OMIM:613268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613268 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym Fcd3 locus Fcd3 locus fcd3 locus OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 Fcd3 locus OMIM:613269 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 5 OMIM:613269 MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613269 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym FECD6 OMIM:613270 corneal dystrophy, fuchs endothelial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613270, MONDO:Lexical FECD6 OMIM:613270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613270 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym Fcd4 locus Fcd4 locus fcd4 locus OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 Fcd4 locus OMIM:613271 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271, MONDO:Lexical corneal dystrophy, Fuchs endothelial, 7 OMIM:613271 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 @@ -17599,7 +15578,6 @@ MONDO:0013308 CBL-related disorder oio:hasExactSynonym oio:hasRelatedSynonym NSL MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency OMIM:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to por deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to POR deficiency OMIM:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency OMIM:613571 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 MONDO:Lexical, OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 MONDO:Lexical, OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 MONDO:0013316 occult macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Omd Omd omd OMIM:613587 occult macular dystrophy OMIM:613587 Omd OMIM:613587 MONDO:0013318 early repolarization associated with ventricular fibrillation oio:hasExactSynonym oio:hasRelatedSynonym early repolarization syndrome OMIM:613601 early repolarization associated with ventricular fibrillation OMIM:613601 early repolarization syndrome OMIM:613601 @@ -17620,7 +15598,6 @@ MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSynonym HP3 OMIM:613616 hyperoxaluria, primary, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613616, MONDO:Lexical HP3 OMIM:613616 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 chromosome 17q23.1-q23.2 DUPLICATION syndrome OMIM:613618 MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 oio:hasExactSynonym oio:hasRelatedSynonym F5F8D2 OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613625, MONDO:Lexical F5F8D2 OMIM:613625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome OMIM:613627 Tsukahara syndrome OMIM:603438 MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome OMIM:613627 Tsukahara syndrome OMIM:613627 MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym Tst1 Tst1 tst1 OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 Tst1 OMIM:613636 MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym tst reactivity, absence of OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 tst reactivity, absence of OMIM:613636 @@ -17761,11 +15738,8 @@ MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P oio:has MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9 deficiency C9 deficiency c9 deficiency OMIM:613825 complement component 9 deficiency OMIM:613825 C9 deficiency OMIM:613825 MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9D OMIM:613825 complement component 9 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613825, MONDO:Lexical C9D OMIM:613825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 oio:hasExactSynonym oio:hasRelatedSynonym Gefs+, type 8 Gefs+, type 8 gefs+, type 8 OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 OMIM:613828 Gefs+, type 8 OMIM:613828 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613830 Csnb, complete, autosomal recessive OMIM:257270 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613830 Csnb, complete, autosomal recessive OMIM:613216 MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613830 Csnb, complete, autosomal recessive OMIM:613830 MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1d OMIM:613830 night blindness, congenital stationary, type 1d MONDO:Lexical, OMIM:613830 night blindness, congenital stationary, type 1D OMIM:613830 -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613830 Csnb, complete, autosomal recessive OMIM:614565 MONDO:0013452 multisystemic smooth muscle dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 smooth muscle dysfunction syndrome OMIM:613834 mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 MONDO:0013455 hypertrophic cardiomyopathy 16 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 16 OMIM:613838 cardiomyopathy, familial hypertrophic, 16 MONDO:Lexical, OMIM:613838 cardiomyopathy, familial hypertrophic, 16 OMIM:613838 MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease oio:hasExactSynonym oio:hasRelatedSynonym megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 @@ -17825,14 +15799,11 @@ MONDO:0013497 Okt4 epitope deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia 15 with or without an affective disorder OMIM:613950 schizophrenia 15 OMIM:613950 schizophrenia 15 with or without an affective disorder OMIM:613950 MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22q13-related OMIM:613950 schizophrenia 15 OMIM:613950 schizophrenia susceptibility locus, chromosome 22Q13-related OMIM:613950 MONDO:0013499 Fanconi anemia complementation group P oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group P Fanconi anemia, complementation group P fanconi anemia, complementation group p OMIM:613951 fanconi anemia, complementation group p MONDO:Lexical, OMIM:613951 Fanconi anemia, complementation group P OMIM:613951 -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 5, formerly OMIM:613953 immunodeficiency 51 OMIM:613953 candidiasis, familial, 5, formerly OMIM:613953 MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 OMIM:613953 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 IMD51 OMIM:613953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 oio:hasExactSynonym oio:hasRelatedSynonym PLCA2 OMIM:613955 amyloidosis, primary localized cutaneous, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613955, MONDO:Lexical PLCA2 OMIM:613955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:613956 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym CANDF6 OMIM:613956 candidiasis, familial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613956, MONDO:Lexical CANDF6 OMIM:613956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:613956 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 OMIM:613957 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 SPGF8 OMIM:613957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, complete OMIM:613958 spermatogenic failure 9 OMIM:613958 globozoospermia, complete OMIM:613958 MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, total OMIM:613958 spermatogenic failure 9 OMIM:613958 globozoospermia, total OMIM:613958 @@ -17863,7 +15834,6 @@ MONDO:0013528 intellectual disability, autosomal recessive 14 oio:hasExactSynony MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021, MONDO:Lexical ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym CPVT3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614021, MONDO:Lexical CPVT3 OMIM:614021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013530 atrial fibrillation, familial, 10 oio:hasExactSynonym oio:hasRelatedSynonym ATFB10 OMIM:614022 atrial fibrillation, familial, 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614022, MONDO:Lexical ATFB10 OMIM:614022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:614025 HL deficiency OMIM:246450 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 HL deficiency OMIM:614025 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic lipase deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym lipc deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 lipc deficiency OMIM:614025 @@ -17903,7 +15873,6 @@ MONDO:0013557 Hermansky-Pudlak syndrome 5 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013558 Hermansky-Pudlak syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym HPS6 OMIM:614075 hermansky-pudlak syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614075, MONDO:Lexical HPS6 OMIM:614075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM:614080 glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical MCAHS1 OMIM:614080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym Ahaptoglobinemia Ahaptoglobinemia ahaptoglobinemia OMIM:614081 anhaptoglobinemia OMIM:614081 Ahaptoglobinemia OMIM:614081 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym ANHAPTOGLOBINEMIA ANHAPTOGLOBINEMIA anhaptoglobinemia OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081 ANHAPTOGLOBINEMIA OMIM:614081 MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym AHP OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081, MONDO:Lexical AHP OMIM:614081 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -17951,7 +15920,6 @@ MONDO:0013595 hyperbiliverdinemia oio:hasExactSynonym oio:hasRelatedSynonym HBLV MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, platelet-type, 14 OMIM:614158 bleeding disorder, platelet-type, 14 MONDO:Lexical, OMIM:614158 bleeding disorder, platelet-type, 14 OMIM:614158 MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym thromboxane synthetase deficiency OMIM:614158 bleeding disorder, platelet-type, 14 OMIM:614158 thromboxane synthetase deficiency OMIM:614158 MONDO:0013598 myostatin-related muscle hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym muscle hypertrophy OMIM:614160 muscle hypertrophy OMIM:614160, MONDO:Lexical muscle hypertrophy OMIM:614160 -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:614162 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:614162 candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 7 OMIM:614162 immunodeficiency 31c OMIM:614162 candidiasis, familial, 7 OMIM:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 31C immunodeficiency 31C immunodeficiency 31c OMIM:614162 immunodeficiency 31c OMIM:614162, MONDO:Lexical immunodeficiency 31C OMIM:614162 @@ -18035,7 +16003,6 @@ MONDO:0013666 Stickler syndrome, type 5 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0013668 tetrasomy 18p oio:hasExactSynonym oio:hasRelatedSynonym Isochromosome 18P syndrome Isochromosome 18P syndrome isochromosome 18p syndrome OMIM:614290 tetrasomy 18p OMIM:614290 Isochromosome 18P syndrome OMIM:614290 MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym BROVCA4 OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614291, MONDO:Lexical BROVCA4 OMIM:614291 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym MCVD OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614292, MONDO:Lexical MCVD OMIM:614292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:614293 hydatidiform Mole, complete OMIM:231090 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform MOLE, recurrent, 2 hydatidiform MOLE, recurrent, 2 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform MOLE, recurrent, 2 OMIM:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform Mole, complete OMIM:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym HYDM2 OMIM:614293 hydatidiform mole, recurrent, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614293 HYDM2 OMIM:614293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -18044,7 +16011,6 @@ MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym he MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym WFSL OMIM:614296 wolfram-like syndrome, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614296 WFSL OMIM:614296 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical MMDS2 OMIM:614299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:614302 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 7, autosomal dominant EMERY-Dreifuss muscular dystrophy 7, autosomal dominant emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 EMERY-Dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD7 OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614302, MONDO:Lexical EDMD7 OMIM:614302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013678 EDICT syndrome oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 edict syndrome OMIM:614303 endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 @@ -18120,7 +16086,6 @@ MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 oio:hasExactSynony MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL2 OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614390, MONDO:Lexical RPRGL2 OMIM:614390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL3 OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614391, MONDO:Lexical RPRGL3 OMIM:614391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 congenital myopathy 10a, severe variant OMIM:614399, MONDO:Lexical myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 -MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 congenital myopathy 10b, mild variant OMIM:614399 myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 MONDO:0013732 glucocorticoid therapy, response to oio:hasExactSynonym oio:hasRelatedSynonym GCTR OMIM:614400 glucocorticoid therapy, response to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614400 GCTR OMIM:614400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013734 microphthalmia, syndromic 11 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS11 OMIM:614402 microphthalmia, syndromic 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614402 MCOPS11 OMIM:614402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zaki-Gleeson syndrome Zaki-Gleeson syndrome zaki-gleeson syndrome OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome OMIM:614407 Zaki-Gleeson syndrome OMIM:614407 @@ -18140,12 +16105,8 @@ MONDO:0013748 ventricular septal defect 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013749 ventricular septal defect 3 oio:hasExactSynonym oio:hasRelatedSynonym VSD3 OMIM:614432 ventricular septal defect 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614432, MONDO:Lexical VSD3 OMIM:614432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013751 cutis laxa, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym ADCL2 OMIM:614434 cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614434, MONDO:Lexical ADCL2 OMIM:614434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013752 hypoplastic left heart syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HLHS2 OMIM:614435 hypoplastic left heart syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614435, MONDO:Lexical HLHS2 OMIM:614435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2G, formerly Charcot-Marie-Tooth disease, axonal, type 2G, formerly charcot-marie-tooth disease, axonal, type 2g, formerly OMIM:614436 charcot-marie-tooth disease, axonal, type 2p OMIM:614436 Charcot-Marie-Tooth disease, axonal, type 2G, formerly OMIM:614436 MONDO:0013755 PYCR1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3b OMIM:614438 cutis laxa, autosomal recessive, type 3b OMIM:614438 cutis laxa, autosomal recessive, type 3B OMIM:614438 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 PDP, autosomal recessive OMIM:259100 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 pachydermoperiostosis, autosomal recessive OMIM:259100 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 PDP, autosomal recessive OMIM:614441 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 pachydermoperiostosis, autosomal recessive OMIM:614441 MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease, dominant intermediate E charcot-marie-tooth disease, dominant intermediate e OMIM:614455 charcot-marie-tooth disease, dominant intermediate e OMIM:614455, MONDO:Lexical Charcot-Marie-Tooth disease, dominant intermediate E OMIM:614455 @@ -18167,7 +16128,6 @@ MONDO:0013768 arterial calcification, generalized, of infancy, 2 oio:hasExactSyn MONDO:0013769 atrioventricular septal defect 5 oio:hasExactSynonym oio:hasRelatedSynonym AVSD5 OMIM:614474 atrioventricular septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614474, MONDO:Lexical AVSD5 OMIM:614474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym hypertriglyceridemia, transient infantile OMIM:614480 hypertriglyceridemia, transient infantile OMIM:614480, MONDO:Lexical hypertriglyceridemia, transient infantile OMIM:614480 MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym HTGTI OMIM:614480 hypertriglyceridemia, transient infantile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614480 HTGTI OMIM:614480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:614485 craniosynostosis, metopic OMIM:190440 MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:614485 craniosynostosis, metopic OMIM:614485 MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO2 OMIM:614485 trigonocephaly 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614485 TRIGNO2 OMIM:614485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013775 thrombomodulin-related bleeding disorder oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to thrombomodulin defect OMIM:614486 thrombophilia due to thrombomodulin defect MONDO:Lexical, OMIM:614486 thrombophilia due to thrombomodulin defect OMIM:614486 @@ -18199,9 +16159,6 @@ MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSyno MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564, MONDO:Lexical cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCTCS OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614564 FCTCS OMIM:614564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:614565 Csnb, complete, autosomal recessive OMIM:257270 -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:614565 Csnb, complete, autosomal recessive OMIM:613216 -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:614565 Csnb, complete, autosomal recessive OMIM:613830 MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565 Csnb, complete, autosomal recessive OMIM:614565 MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1e OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565, MONDO:Lexical night blindness, congenital stationary, type 1E OMIM:614565 MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type multiple enchondromatosis, maffucci type OMIM:614569 multiple enchondromatosis, maffucci type OMIM:614569 multiple enchondromatosis, Maffucci type OMIM:614569 @@ -18214,7 +16171,6 @@ MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelated MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym endemic Nonfilarial elephantiasis, susceptibility to endemic Nonfilarial elephantiasis, susceptibility to endemic nonfilarial elephantiasis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 endemic Nonfilarial elephantiasis, susceptibility to OMIM:614590 MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym lymphostatic verrucosis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 lymphostatic verrucosis, susceptibility to OMIM:614590 MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BBDS BBDS bbds OMIM:614592 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614592, MONDO:Lexical BBDS OMIM:614592 -MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bent bone dysplasia syndrome bent bone dysplasia syndrome Bent bone dysplasia syndrome OMIMPS:614592 Bent bone dysplasia syndrome OMIM:614592, MONDO:Lexical bent bone dysplasia syndrome OMIMPS:614592 MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PREECLAMPSIA/eclampsia 5 PREECLAMPSIA/eclampsia 5 preeclampsia/eclampsia 5 OMIM:614595 preeclampsia/eclampsia 5 OMIM:614595 PREECLAMPSIA/eclampsia 5 OMIM:614595 MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PEE5 OMIM:614595 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614595 PEE5 OMIM:614595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013818 trichohepatoenteric syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym TRICHOHEPATOENTERIC syndrome 2 TRICHOHEPATOENTERIC syndrome 2 trichohepatoenteric syndrome 2 OMIM:614602 trichohepatoenteric syndrome 2 OMIM:614602 TRICHOHEPATOENTERIC syndrome 2 OMIM:614602 @@ -18281,7 +16237,6 @@ MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei MONDO:0013876 basal cell carcinoma, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym BCC7 OMIM:614740 basal cell carcinoma, susceptibility to, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614740, MONDO:Lexical BCC7 OMIM:614740 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013877 mitochondrial pyruvate carrier deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPYCD OMIM:614741 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614741, MONDO:Lexical MPYCD OMIM:614741 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT1 OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614742, MONDO:Lexical PFBMFT1 OMIM:614742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasBroadSynonym aplastic anemia OMIM:609135 aplastic anemia OMIM:genemap2, OMIM:614743 aplastic anemia OMIM:609135 MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT2 OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614743, MONDO:Lexical PFBMFT2 OMIM:614743 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013880 facial paresis, hereditary congenital, 3 oio:hasExactSynonym oio:hasRelatedSynonym HCFP3 OMIM:614744 facial paresis, hereditary congenital, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614744 HCFP3 OMIM:614744 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome OMIM:614748, MONDO:Lexical interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 @@ -18308,12 +16263,9 @@ MONDO:0013899 Weill-Marchesani syndrome 3 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013900 alternating hemiplegia of childhood 2 oio:hasExactSynonym oio:hasRelatedSynonym AHC2 OMIM:614820 alternating hemiplegia of childhood 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614820, MONDO:Lexical AHC2 OMIM:614820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus OMIM:614822 spermatogenic failure 10 OMIM:614822 spermatogenic failure with defective sperm annulus OMIM:614822 MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 OMIM:614822 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical SPGF10 OMIM:614822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:614823 bicuspid aortic valve OMIM:109730 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:614823 aortic valve disease 2 OMIM:614823 aortic valve stenosis OMIM:614823 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:614823 bicuspid aortic valve OMIM:614823 MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym AOVD2 OMIM:614823 aortic valve disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614823, MONDO:Lexical AOVD2 OMIM:614823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:618496 aortic valve disease 3 OMIM:614823 aortic valve stenosis OMIM:618496 -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:614823 bicuspid aortic valve OMIM:618496 MONDO:0013903 nystagmus 7, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 7, congenital, autosomal dominant NYSTAGMUS 7, congenital, autosomal dominant nystagmus 7, congenital, autosomal dominant OMIM:614826 nystagmus 7, congenital, autosomal dominant MONDO:Lexical, OMIM:614826 NYSTAGMUS 7, congenital, autosomal dominant OMIM:614826 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related OMIM:614830 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 OMIM:614830 @@ -18420,11 +16372,8 @@ MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSyno MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 oio:hasExactSynonym oio:hasNarrowSynonym DFNB70 OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614934, DOID:0110521 DFNB70 OMIM:614934 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19 OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935, MONDO:Lexical ciliary dyskinesia, primary, 19 OMIM:614935 MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935 ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:614940 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD11A OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614940, MONDO:Lexical ECTD11A OMIM:614940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, anhidrotic OMIM:224900 -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, hypohidrotic OMIM:224900 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, anhidrotic OMIM:614941 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia, hypohidrotic OMIM:614941 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD11B OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614941, MONDO:Lexical ECTD11B OMIM:614941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -18691,7 +16640,6 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2, formerly OMIM:615486 interstitial lung and liver disease OMIM:615486 infantile liver failure syndrome 2, formerly OMIM:615486 MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, reunion island OMIM:615486 interstitial lung and liver disease OMIM:615486 pulmonary alveolar proteinosis, Reunion Island OMIM:615486 MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym ILLD OMIM:615486 interstitial lung and liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615486, MONDO:Lexical ILLD OMIM:615486 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2 OMIM:616483 infantile liver failure syndrome 2 OMIM:615486 infantile liver failure syndrome 2 OMIM:616483 MONDO:0014207 age related macular degeneration 14 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 14 OMIM:615489 macular degeneration, age-related, 14 OMIM:615489, MONDO:Lexical macular degeneration, age-related, 14 OMIM:615489 MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R charcot-marie-tooth disease, axonal, autosomal recessive, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r GARD:0012451, OMIM:615490 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R OMIM:615490 MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2R Charcot-Marie-Tooth disease, axonal, type 2R charcot-marie-tooth disease, axonal, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r MONDO:Lexical, OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R OMIM:615490 @@ -18734,7 +16682,6 @@ MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:ha MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 oio:hasExactSynonym oio:hasRelatedSynonym FECD8 OMIM:615523 corneal dystrophy, fuchs endothelial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615523 FECD8 OMIM:615523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects OMIM:615524 microphthalmia, syndromic 12 OMIM:615524 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects OMIM:615524 MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS12 OMIM:615524 microphthalmia, syndromic 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615524, MONDO:Lexical MCOPS12 OMIM:615524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:615527 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:615527 candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym CANDF8 OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615527 CANDF8 OMIM:615527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014231 juvenile onset Parkinson disease 19A oio:hasExactSynonym oio:hasRelatedSynonym Park19, formerly Park19, formerly park19, formerly OMIM:615528 parkinson disease 19a, juvenile-onset OMIM:615528 Park19, formerly OMIM:615528 @@ -18777,7 +16724,6 @@ MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRela MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, normotriglyceridemic OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, Normotriglyceridemic OMIM:615558 MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, familial OMIM:615558 MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558, MONDO:Lexical hypobetalipoproteinemia, familial, 1 OMIM:615558 -MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical OFC2 OMIM:615560 MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OTFCS2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560 OTFCS2 OMIM:615560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014255 complement factor b deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement factor B deficiency OMIM:615561 complement factor B deficiency OMIM:615561 complement factor B deficiency OMIM:615561 @@ -18959,7 +16905,6 @@ MONDO:0014411 myopia 24, autosomal dominant oio:hasExactSynonym oio:hasRelatedSy MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 14 OMIM:615948 orofaciodigital syndrome 14 OMIM:615948 orofaciodigital syndrome 14 OMIM:615948 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym ADMIO1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615952 ADMIO1 OMIM:615952 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset autoimmune disease, multisystem, infantile-onset Autoimmune disease, multisystem, infantile-onset OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset MONDO:Lexical, OMIM:615952 autoimmune disease, multisystem, infantile-onset OMIMPS:615952 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 OMIM:615954 primary macronodular adrenal hyperplasia OMIM:615954 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 AIMAH2 OMIM:615954 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014417 spinocerebellar ataxia type 38 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 38 OMIM:615957 spinocerebellar ataxia 38 MONDO:Lexical, OMIM:615957 spinocerebellar ataxia 38 OMIM:615957 @@ -18985,8 +16930,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014430 intellectual disability, autosomal recessive 45 oio:hasExactSynonym oio:hasRelatedSynonym MRT45 OMIM:615979 intellectual developmental disorder, autosomal recessive 45 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615979 MRT45 OMIM:615979 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with lipe mutations OMIM:615980 lipodystrophy, familial partial, type 6 OMIM:615980 lipodystrophy, familial partial, associated with Lipe mutations OMIM:615980 MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, type 6 OMIM:615980 lipodystrophy, familial partial, type 6 MONDO:Lexical, GARD:0013126, OMIM:615980 lipodystrophy, familial partial, type 6 OMIM:615980 -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome GARD:0000821 Bardet-Biedl syndrome OMIMPS:209900 -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym euthyroid hyperthyroxinemia 1 OMIM:615999 hyperthyroxinemia, familial dysalbuminemic OMIM:615999 euthyroid hyperthyroxinemia 1 OMIM:615999 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 FDH OMIM:615999 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDAH OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615999 FDAH OMIM:615999 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19081,7 +17024,6 @@ MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2S Charcot-Marie-Tooth neuropathy, type 2S charcot-marie-tooth neuropathy, type 2s OMIM:616155 charcot-marie-tooth disease, axonal, type 2s OMIM:616155 Charcot-Marie-Tooth neuropathy, type 2S OMIM:616155 MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 aortic aneurysm, familial thoracic 9 OMIM:616166 aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym AAT9 OMIM:616166 aortic aneurysm, familial thoracic 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616166, MONDO:Lexical AAT9 OMIM:616166 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 aortic aneurysm, familial thoracic 10 OMIM:616166 aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 MONDO:0014515 macular dystrophy with central cone involvement oio:hasExactSynonym oio:hasRelatedSynonym CCMD OMIM:616170 macular dystrophy with central cone involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616170 CCMD OMIM:616170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 MONDO:Lexical, OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616171 MCCRP2 OMIM:616171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19219,7 +17161,6 @@ MONDO:0014626 spinocerebellar ataxia type 41 oio:hasExactSynonym oio:hasRelatedS MONDO:0014627 dystonia 27 oio:hasExactSynonym oio:hasRelatedSynonym DYT27 OMIM:616411 dystonia 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616411 DYT27 OMIM:616411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014628 basal ganglia calcification, idiopathic, 6 oio:hasExactSynonym oio:hasRelatedSynonym IBGC6 OMIM:616413 basal ganglia calcification, idiopathic, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616413 IBGC6 OMIM:616413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome oio:hasExactSynonym oio:hasRelatedSynonym autoimmune interstitial lung, joint, and kidney disease OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation MONDO:Lexical, OMIM:616414 autoimmune interstitial lung, joint, and kidney disease OMIM:616414 -MONDO:0014631 hypomagnesemia, seizures, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR HOMGSMR homgsmr OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616418, MONDO:Lexical HOMGSMR OMIM:616418 MONDO:0014632 hypomyelinating leukodystrophy 10 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 10 OMIM:616420 leukodystrophy, hypomyelinating, 10 MONDO:Lexical, OMIM:616420 leukodystrophy, hypomyelinating, 10 OMIM:616420 MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 10 46,XY SEX reversal 10 46,xy sex reversal 10 OMIM:616425 46,xy sex reversal 10 OMIM:616425 46,XY SEX reversal 10 OMIM:616425 MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17Q24 deletion syndrome chromosome 17Q24 deletion syndrome chromosome 17q24 deletion syndrome OMIM:616425 46,xy sex reversal 10 OMIM:616425 chromosome 17Q24 deletion syndrome OMIM:616425 @@ -19258,7 +17199,6 @@ MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2V Charcot-Marie-Tooth disease, axonal, type 2V charcot-marie-tooth disease, axonal, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491, MONDO:Lexical Charcot-Marie-Tooth disease, axonal, type 2V OMIM:616491 MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2V Charcot-Marie-Tooth neuropathy, type 2V charcot-marie-tooth neuropathy, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491 Charcot-Marie-Tooth neuropathy, type 2V OMIM:616491 MONDO:0014666 hypomyelinating leukodystrophy 11 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 11 OMIM:616494 leukodystrophy, hypomyelinating, 11 OMIM:616494, MONDO:Lexical leukodystrophy, hypomyelinating, 11 OMIM:616494 -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 OMIM:616502 retinal dystrophy with early macular involvement OMIM:614500 MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 OMIM:616502 retinal dystrophy with early macular involvement OMIM:616502 MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym CORD21 OMIM:616502 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616502, MONDO:Lexical CORD21 OMIM:616502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014670 lethal congenital contracture syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym LCCS9 OMIM:616503 lethal congenital contracture syndrome 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616503 LCCS9 OMIM:616503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19347,7 +17287,6 @@ MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome oi MONDO:0014765 wooly hair, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 woolly hair, autosomal recessive 3 http://purl.obolibrary.org/obo/OMO_0003005 woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym LDAMD OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616763 LDAMD OMIM:616763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014769 inherited oocyte maturation defect oio:hasExactSynonym oio:hasRelatedSynonym OOMD OOMD oomd OMIM:615774 oocyte/zygote/embryo maturation arrest 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616780 OOMD OMIM:615774 MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive facial features with or without cardiac defects OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616789 mental retardation and distinctive FACIAL features with or without CARDIAC defects OMIM:616789 MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 OMIM:616809 glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Birk-Flusser syndrome Birk-Flusser syndrome birk-flusser syndrome OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM:616819 Birk-Flusser syndrome OMIM:616819 @@ -19375,7 +17314,6 @@ MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfan-progeroid-lipodystrophy syndrome Marfan-progeroid-lipodystrophy syndrome marfan-progeroid-lipodystrophy syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 Marfan-progeroid-lipodystrophy syndrome OMIM:616914 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfanoid-progeroid syndrome Marfanoid-progeroid syndrome marfanoid-progeroid syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 Marfanoid-progeroid syndrome OMIM:616914 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym MFLS OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616914 MFLS OMIM:616914 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014835 striatal degeneration, autosomal dominant 2 oio:hasExactSynonym oio:hasBroadSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant OMIM:genemap2, OMIM:616922 striatal degeneration, autosomal dominant OMIMPS:609161 MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2CC Charcot-Marie-Tooth disease, axonal, type 2CC charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC OMIM:616924 MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Cc Charcot-Marie-Tooth neuropathy, type 2Cc charcot-marie-tooth neuropathy, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 Charcot-Marie-Tooth neuropathy, type 2Cc OMIM:616924 MONDO:0014837 thrombocytopenia 6 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, autosomal dominant, 6 OMIM:616937 thrombocytopenia 6 OMIM:616937 thrombocytopenia, autosomal dominant, 6 OMIM:616937 @@ -19415,7 +17353,6 @@ MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym inte MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 intellectual developmental disorder with persistence of fetal Hemoglobin OMIM:617101 MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome thauvin-robinet-faivre syndrome OMIM:617107 thauvin-robinet-faivre syndrome OMIM:617107 THAUVIN-robinet-Faivre syndrome OMIM:617107 MONDO:0014922 myofibrillar myopathy 7 oio:hasExactSynonym oio:hasRelatedSynonym MFM7 OMIM:617114 myopathy, myofibrillar, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617114 MFM7 OMIM:617114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014926 Bardet-Biedl syndrome 22 oio:hasExactSynonym oio:hasRelatedSynonym BBS20 OMIM:619471 bardet-biedl syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617119 BBS20 OMIM:619471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym Ofds 15 Ofds 15 ofds 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 Ofds 15 OMIM:617127 MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 15 oral-Facial-digital syndrome, type 15 oral-facial-digital syndrome, type 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 oral-Facial-digital syndrome, type 15 OMIM:617127 MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 @@ -19454,10 +17391,6 @@ MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudocholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency OMIM:617936, GARD:0007482 pseudocholinesterase deficiency OMIM:617936 MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym BCHED OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617936 BCHED OMIM:617936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015278 familial pancreatic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic acinar carcinoma OMIM:260350 pancreatic cancer OMIM:260350 pancreatic acinar carcinoma OMIM:260350 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym Fav sequence Fav sequence fav sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 Fav sequence OMIM:164210 -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym facioauriculovertebral sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 facioauriculovertebral sequence OMIM:164210 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 Dent disease 1 dent disease 1 OMIM:300009 dent disease 1 DOID:0050699 Dent disease 1 OMIM:300009 -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 Dent disease 2 dent disease 2 OMIM:300555 dent disease 2 DOID:0050699 Dent disease 2 OMIM:300555 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Alport syndrome with macrothrombocytopenia, formerly Alport syndrome with macrothrombocytopenia, formerly alport syndrome with macrothrombocytopenia, formerly OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 Alport syndrome with macrothrombocytopenia, formerly OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Dohle leukocyte inclusions with giant platelets Dohle leukocyte inclusions with giant platelets dohle leukocyte inclusions with giant platelets OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 Dohle leukocyte inclusions with giant platelets OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 6 bleeding disorder, Platelet-type, 6 bleeding disorder, platelet-type, 6 OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 bleeding disorder, Platelet-type, 6 OMIM:155100 @@ -19466,8 +17399,6 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, and deafness OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153650 macrothrombocytopenia, nephritis, and deafness OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym MATINS matins MATINS OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155100 MATINS OMIM:155100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical FMD OMIM:305620 -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency OMIM:215700 citrullinemia, classic DOID:9273 ass deficiency OMIM:215700 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, ocular-scoliotic type ehlers-danlos syndrome, ocular-scoliotic type OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400, MESH:C536198 Ehlers-Danlos syndrome, ocular-scoliotic type OMIM:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type VIA, formerly ehlers-danlos syndrome, type via, formerly OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 MESH:C536198 Ehlers-Danlos syndrome, type VIA, formerly OMIM:225400 @@ -19481,16 +17412,11 @@ MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym o MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 3 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500 olivopontocerebellar atrophy 3 OMIM:164500 MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 7 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500, MONDO:Lexical spinocerebellar ataxia 7 OMIM:164500 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hirschsprung disease with type D brachydactyly Hirschsprung disease with type D brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly OMIM:306980 Hirschsprung disease with type D brachydactyly OMIM:306980 -MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym HYC3 OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION HYC3 OMIM:617967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Poikiloderma Atrophicans and Cataract Poikiloderma Atrophicans and Cataract poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 Poikiloderma Atrophicans and Cataract OMIM:618625 MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym ROTHMUND-THOMSON SYNDROME, TYPE 1 ROTHMUND-THOMSON SYNDROME, TYPE 1 rothmund-thomson syndrome, type 1 OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 ROTHMUND-THOMSON SYNDROME, TYPE 1 OMIM:618625 MONDO:0016419 hereditary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast cancer, familial OMIM:114480 breast cancer OMIM:114480 breast cancer, familial OMIM:114480 MONDO:0016532 Lennox-Gastaut syndrome oio:hasExactSynonym oio:hasRelatedSynonym macrocephaly and epileptic encephalopathy OMIM:606369 macrocephaly and epileptic encephalopathy OMIM:606369 macrocephaly and epileptic encephalopathy OMIM:606369 MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym CTHM OMIM:217095 conotruncal heart malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:217095 CTHM OMIM:217095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100, MONDO:Lexical hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100, MONDO:Lexical PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 OMIM:136760 frontonasal dysplasia 1 NCIT:C129028 frontonasal dysplasia 1 OMIM:136760 -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C129028 FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym epiphyseal dysplasia, multiple epiphyseal dysplasia, multiple Epiphyseal dysplasia, multiple OMIMPS:132400 Epiphyseal dysplasia, multiple OMIMPS:132400, GARD:0010756 epiphyseal dysplasia, multiple OMIMPS:132400 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 10 OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370, MONDO:Lexical arthrogryposis, distal, type 10 OMIM:187370 MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital plantar contractures OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370 congenital plantar contractures OMIM:187370 @@ -19502,17 +17428,10 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym cholestasis with peripheral pulmonary stenosis OMIM:118450 alagille syndrome 1 OMIM:118450 cholestasis with peripheral pulmonary stenosis OMIM:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym hepatic ductular hypoplasia, syndromatic OMIM:118450 alagille syndrome 1 OMIM:118450 hepatic ductular hypoplasia, syndromatic OMIM:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym ALGS1 OMIM:118450 alagille syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118450, MONDO:Lexical ALGS1 OMIM:118450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym MMDS MMDS mmds OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical MMDS OMIM:605711 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 mitchell-riley syndrome OMIM:615710 diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTCHRS OMIM:615710 mitchell-riley syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615710, MONDO:Lexical MTCHRS OMIM:615710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fryns-Aftimos syndrome Fryns-Aftimos syndrome fryns-aftimos syndrome OMIM:243310 baraitser-winter syndrome 1 GARD:0005279 Fryns-Aftimos syndrome OMIM:243310 MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional epidermolysis bullosa, junctional Epidermolysis bullosa, junctional OMIMPS:226650 Epidermolysis bullosa, junctional GARD:0002152 epidermolysis bullosa, junctional OMIMPS:226650 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis et progressiva OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 GARD:0003096, MESH:C536154 erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia, progressive symmetric OMIM:133200 MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200, MONDO:Lexical erythrokeratodermia variabilis ET progressiva OMIMPS:133200 -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym BEEC OMIM:600057 bladder exstrophy and epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:322 BEEC OMIM:600057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym Young female arteritis Young female arteritis young female arteritis OMIM:207600 takayasu arteritis OMIM:207600 Young female arteritis OMIM:207600 MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease OMIM:207600 takayasu arteritis OMIM:207600 pulseless disease OMIM:207600 MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym oio:hasRelatedSynonym atrial fibrillation, familial atrial fibrillation, familial Atrial fibrillation, familial OMIMPS:608583 Atrial fibrillation, familial GARD:0009740, OMIMPS:608583 atrial fibrillation, familial OMIMPS:608583 @@ -19543,13 +17462,7 @@ MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding di MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym sclerosing cholangitis, neonatal OMIM:617394 sclerosing cholangitis, neonatal OMIM:617394 sclerosing cholangitis, neonatal OMIM:617394 MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym NSC OMIM:617394 sclerosing cholangitis, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617394 NSC OMIM:617394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym PTORCH2 OMIM:617397 pseudo-torch syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617397 PTORCH2 OMIM:617397 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata MESH:C537412 Atrophodermia reticulata symmetrica faciei OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata MESH:C537412 Atrophodermia vermiculata OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis ulerythematosa reticulata OMIM:209700 atrophoderma vermiculata MESH:C537412 folliculitis ulerythematosa reticulata OMIM:209700 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym honeycomb atrophy OMIM:209700 atrophoderma vermiculata MESH:C537412 honeycomb atrophy OMIM:209700 MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym KPA OMIM:604093 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604093 KPA OMIM:604093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 GARD:0000575 pseudotoxoplasmosis syndrome OMIM:225750 -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS AGS ags OMIM:225750 aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 AGS OMIM:225750 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myelogenous OMIM:601626 leukemia, acute myeloid OMIM:601626 leukemia, acute myelogenous OMIM:601626 MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myeloid OMIM:601626 leukemia, acute myeloid MONDO:Lexical, OMIM:601626 leukemia, acute myeloid OMIM:601626 MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and fraumeni OMIM:151623 li-fraumeni syndrome OMIM:151623 sarcoma family syndrome of 51 and Fraumeni OMIM:151623 @@ -19561,7 +17474,6 @@ MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRela MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym McLeod phenotype McLeod phenotype mcleod phenotype OMIM:300842 mcleod syndrome OMIM:300842 McLeod phenotype OMIM:300842 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis, McLeod type neuroacanthocytosis, McLeod type neuroacanthocytosis, mcleod type OMIM:300842 mcleod syndrome OMIM:300842 neuroacanthocytosis, McLeod type OMIM:300842 MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCLDS OMIM:300842 mcleod syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300842, MONDO:Lexical MCLDS OMIM:300842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy OMIMPS:254130 Miyoshi muscular dystrophy DOID:11720 Miyoshi muscular dystrophy OMIMPS:254130 MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria methylcrotonylglycinuria Methylcrotonylglycinuria OMIMPS:210200 Methylcrotonylglycinuria OMIMPS:210200 methylcrotonylglycinuria OMIMPS:210200 MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym MYOTONIA, POTASSIUM-AGGRAVATED MYOTONIA, POTASSIUM-AGGRAVATED myotonia, potassium-aggravated OMIM:608390 myotonia, potassium-aggravated OMIM:608390 MYOTONIA, POTASSIUM-AGGRAVATED OMIM:608390 MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Congenita, Acetazolamide-Responsive Myotonia Congenita, Acetazolamide-Responsive myotonia congenita, acetazolamide-responsive OMIM:608390 myotonia, potassium-aggravated OMIM:608390 Myotonia Congenita, Acetazolamide-Responsive OMIM:608390 @@ -19577,26 +17489,20 @@ MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym oio:hasBroadSyno MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulonephritis with sparse hair and telangiectases OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 glomerulonephritis with sparse hair and telangiectases OMIM:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectatic membranoproliferative glomerulonephritis OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 telangiectatic membranoproliferative glomerulonephritis OMIM:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 HLTRS OMIM:137940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 MESH:C535313 Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RH-null, regulator type RH-null, regulator type rh-null, regulator type OMIM:268150 rh-null, regulator type OMIM:268150, MONDO:Lexical RH-null, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null disease, regulator type Rh-null disease, regulator type rh-null disease, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 Rh-null disease, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null hemolytic Anemia, regulator type Rh-null hemolytic Anemia, regulator type rh-null hemolytic anemia, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 Rh-null hemolytic Anemia, regulator type OMIM:268150 MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHNR OMIM:268150 rh-null, regulator type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268150 RHNR OMIM:268150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019111 familial thrombocytosis oio:hasExactSynonym oio:hasRelatedSynonym thrombocythemia thrombocythemia Thrombocythemia OMIMPS:187950 Thrombocythemia OMIMPS:187950 thrombocythemia OMIMPS:187950 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency OMIMPS:278000 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency OMIMPS:278000 MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD OMIM:278000 cholesteryl ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 CESD OMIM:278000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym AR deficiency AR deficiency ar deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 AR deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym DHTR deficiency DHTR deficiency dhtr deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 DHTR deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym androgen receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 androgen receptor deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym dihydrotestosterone receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 dihydrotestosterone receptor deficiency OMIM:300068 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS OMIM:300068 androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS OMIM:300068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 NCIT:C123252 Gordon syndrome OMIM:114300 -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym oio:hasRelatedSynonym RSTS RSTS rsts OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007593 RSTS OMIM:180849 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome OMIM:214100 MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome GARD:0010341, OMIMPS:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, juvenile OMIM:259750 osteoporosis, juvenile OMIM:259750 osteoporosis, juvenile OMIM:259750 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE OMIM:618398 -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome OMIM:500004 retinitis pigmentosa-deafness syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome OMIM:500004 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY hemolytic anemia due to glutathione reductase deficiency OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 OMIM:618660 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM:618660 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDS II, formerly EDS II, formerly eds ii, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 EDS II, formerly OMIM:130010 MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers Danlos syndrome, mild Classic type, formerly Ehlers Danlos syndrome, mild Classic type, formerly ehlers Danlos syndrome, mild classic type, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 Ehlers Danlos syndrome, mild Classic type, formerly OMIM:130010 @@ -19608,25 +17514,18 @@ MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym o MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive OMIM:607197 deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 deafness, autosomal recessive OMIM:607197 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive deafness, autosomal recessive Deafness, autosomal recessive OMIMPS:220290 Deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 deafness, autosomal recessive OMIMPS:220290 MONDO:0019623 hereditary angioedema oio:hasExactSynonym oio:hasRelatedSynonym angioedema, hereditary angioedema, hereditary Angioedema, Hereditary OMIMPS:106100 Angioedema, Hereditary GARD:0005979 angioedema, hereditary OMIMPS:106100 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia OMIM:607086 aortic aneurysm, familial thoracic 1 Orphanet:229 annuloaortic ectasia OMIM:607086 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, Pakistani type SEMD, Pakistani type semd, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 SEMD, Pakistani type OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes MONDO:Lexical, OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplasia and premature pubarche OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 spondylodysplasia and premature pubarche OMIM:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym BCYM4 OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612847, MONDO:Lexical BCYM4 OMIM:612847 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 SEMDJL1 OMIM:271640 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome mulchandani-bhoj-conlin syndrome OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 MULCHANDANI-BHOJ-CONLIN syndrome OMIM:617352 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym uniparental disomy, maternal, chromosome 20 OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 uniparental disomy, maternal, chromosome 20 OMIM:617352 MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS OMIM:617352 mulchandani-bhoj-conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 MBCS OMIM:617352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym anemia, autoimmune hemolytic OMIM:205700 anemia, autoimmune hemolytic OMIM:205700 anemia, autoimmune hemolytic OMIM:205700 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect OMIM:606215 atrioventricular septal defect DOID:0050651 atrioventricular canal defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect OMIM:606215 atrioventricular septal defect Orphanet:98722 atrioventricular septal defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect OMIM:606215 atrioventricular septal defect DOID:0050651 endocardial cushion defect OMIM:606215 -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD OMIM:606215 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD OMIM:606215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect Orphanet:98722 atrioventricular septal defect OMIMPS:606215 MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar ataxia OMIMPS:164400 Spinocerebellar ataxia DOID:1441 spinocerebellar ataxia OMIMPS:164400 MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency molybdenum cofactor deficiency Molybdenum cofactor deficiency OMIMPS:252150 Molybdenum cofactor deficiency OMIMPS:252150 molybdenum cofactor deficiency OMIMPS:252150 MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHOL OMIM:617507 peho-like syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617507 PEHOL OMIM:617507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 Cree leukoencephalopathy OMIM:620315 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome Golabi-Rosen syndrome golabi-rosen syndrome OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 Golabi-Rosen syndrome OMIM:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sgbs Sgbs sgbs OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 Sgbs OMIM:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Simpson-Golabi-Behmel syndrome, type 1 Simpson-Golabi-Behmel syndrome, type 1 simpson-golabi-behmel syndrome, type 1 OMIM:312870 simpson-golabi-behmel syndrome, type 1 MONDO:Lexical, OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1 OMIM:312870 @@ -19634,13 +17533,11 @@ MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasR MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 OMIM:177200 Liddle syndrome OMIM:177200 MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Pseudoaldosteronism Pseudoaldosteronism pseudoaldosteronism OMIM:177200 liddle syndrome 1 OMIM:177200 Pseudoaldosteronism OMIM:177200 MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LIDLS1 OMIM:177200 liddle syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:177200 LIDLS1 OMIM:177200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome OMIM:177200 Liddle syndrome OMIMPS:177200 MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 oio:hasExactSynonym oio:hasRelatedSynonym MGRISCE2 OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618097 MGRISCE2 OMIM:618097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym multisynostotic osteodysgenesis with long bone fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 multisynostotic osteodysgenesis with long bone fractures OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym osteodysgenesis, multisynostotic, with fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 osteodysgenesis, multisynostotic, with fractures OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 trapezoidocephaly-synostosis Syndrome OMIM:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym ABS2 OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:207410 ABS2 OMIM:207410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:229200 brittle cornea syndrome 1 OMIM:601776 Ehlers-Danlos syndrome, type Vib, formerly OMIM:229200 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Arthrogryposis, Distal, with peculiar facies and hydronephrosis Arthrogryposis, Distal, with peculiar facies and hydronephrosis arthrogryposis, distal, with peculiar facies and hydronephrosis OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Arthrogryposis, Distal, with peculiar facies and hydronephrosis OMIM:601776 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Dundar syndrome Dundar syndrome dundar syndrome OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Dundar syndrome OMIM:601776 MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, musculocontractural type, 1 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type, 1 OMIM:601776 @@ -19656,7 +17553,6 @@ MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, periodontosis type Ehlers-Danlos syndrome, periodontosis type ehlers-danlos syndrome, periodontosis type OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 Ehlers-Danlos syndrome, periodontosis type OMIM:130080 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type 8 Ehlers-Danlos syndrome, type 8 ehlers-danlos syndrome, type 8 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 Ehlers-Danlos syndrome, type 8 OMIM:130080 MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSPD1 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130080 EDSPD1 OMIM:130080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis OMIM:122600 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym vertebral anomalies OMIM:277300 spondylocostal dysostosis 1, autosomal recessive OMIM:277300 vertebral anomalies OMIM:277300 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysostosis OMIM:277300 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 spondylothoracic dysplasia OMIM:277300 @@ -19674,7 +17570,6 @@ MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelated MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary iron-loading Anemia hereditary iron-loading Anemia hereditary iron-loading anemia OMIM:300751 anemia, sideroblastic, 1 OMIM:300751 hereditary iron-loading Anemia OMIM:300751 MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym SIDBA1 OMIM:300751 anemia, sideroblastic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300751 SIDBA1 OMIM:300751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym urolithiasis, calcium oxalate OMIM:167030 nephrolithiasis, calcium oxalate, 1 DOID:585, OMIM:167030 urolithiasis, calcium oxalate OMIM:167030 -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis, calcium oxalate nephrolithiasis, calcium oxalate Nephrolithiasis, calcium oxalate OMIMPS:167030 Nephrolithiasis, calcium oxalate OMIM:167030, DOID:585 nephrolithiasis, calcium oxalate OMIMPS:167030 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-alpha, 25-hydroxyvitamin d3 deficiency, selective OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective OMIM:264700 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha-Hydroxylase deficiency 1-Alpha-Hydroxylase deficiency 1-alpha-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 1-Alpha-Hydroxylase deficiency OMIM:264700 MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 25-hydroxycholecalciferol-1-Hydroxylase deficiency OMIM:264700 @@ -19688,7 +17583,6 @@ MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelat MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cerebral capillary malformations OMIM:116860 MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIM:116860 MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIMPS:116860 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mckd Mckd mckd OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 Mckd OMIM:174000 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidneys, medullary type OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 polycystic kidneys, medullary type OMIM:174000 MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 OMIM:616045 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 COXPD22 OMIM:616045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19698,7 +17592,6 @@ MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym re MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym RHUC1 OMIM:220150 hypouricemia, renal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220150, MONDO:Lexical RHUC1 OMIM:220150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia 1, autosomal recessive OMIM:601495 agammaglobulinemia 1, autosomal recessive MONDO:Lexical, OMIM:601495 agammaglobulinemia 1, autosomal recessive OMIM:601495 MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to ighm defect OMIM:601495 agammaglobulinemia 1, autosomal recessive OMIM:601495 agammaglobulinemia, autosomal recessive, due to IGHM defect OMIM:601495 -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome carpal tunnel syndrome Carpal tunnel syndrome OMIMPS:115430 Carpal tunnel syndrome OMIM:115430 carpal tunnel syndrome OMIMPS:115430 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Cushing symphalangism Cushing symphalangism cushing symphalangism OMIM:185800 symphalangism, proximal, 1a OMIM:185800 Cushing symphalangism OMIM:185800 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Sym1 Sym1 sym1 OMIM:185800 symphalangism, proximal, 1a OMIM:185800 Sym1 OMIM:185800 MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 hereditary absence of the proximal interphalangeal joints OMIM:185800 @@ -19736,29 +17629,23 @@ MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 1 CONE-ROD DYSTROPHY AND HEARING LOSS 1 cone-rod dystrophy and hearing loss 1 OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS 1 OMIM:617236 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym Crdhl Crdhl crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 Crdhl OMIM:617236 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL1 OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617236 CRDHL1 OMIM:617236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss OMIM:617236, OMIM:genemap2 cone-rod dystrophy and hearing loss OMIMPS:617236 MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 2 CONE-ROD DYSTROPHY AND HEARING LOSS 2 cone-rod dystrophy and hearing loss 2 OMIM:618358 cone-rod dystrophy and hearing loss 2 OMIM:618358 CONE-ROD DYSTROPHY AND HEARING LOSS 2 OMIM:618358 MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL2 OMIM:618358 cone-rod dystrophy and hearing loss 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618358 CRDHL2 OMIM:618358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 OMIM:617186 MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym PEBEL1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617186 PEBEL1 OMIM:617186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasBroadSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM:617186, OMIM:genemap2 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354 Capillary Malformation-Arteriovenous Malformation OMIM:608354 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354 Capillary Malformation-Arteriovenous Malformation OMIMPS:608354 MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 capillary malformation-arteriovenous malformation 2 OMIM:618196 capillary malformation-arteriovenous malformation 2 OMIM:618196 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 OMIM:618196 MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CMAVM2 OMIM:618196 capillary malformation-arteriovenous malformation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618196 CMAVM2 OMIM:618196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 hypomagnesemia, seizures, and mental retardation 1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 OMIM:616418 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 OMIM:616418 MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616418 HOMGSMR1 OMIM:616418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasBroadSynonym hypomagnesemia, seizures, and mental retardation hypomagnesemia, seizures, and mental retardation Hypomagnesemia, seizures, and mental retardation OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation OMIM:genemap2, OMIM:616418 hypomagnesemia, seizures, and mental retardation OMIMPS:616418 MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR2 OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618314 HOMGSMR2 OMIM:618314 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 OMIM:251290 pseudo-TORCH syndrome OMIM:251290 -MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome OMIM:251290 pseudo-TORCH syndrome OMIMPS:251290 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym CORNEAL DYSTROPHY, MEESMANN, 1 CORNEAL DYSTROPHY, MEESMANN, 1 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 CORNEAL DYSTROPHY, MEESMANN, 1 OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Juvenile Epithelial, of Meesmann Corneal Dystrophy, Juvenile Epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Corneal Dystrophy, Juvenile Epithelial, of Meesmann OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Meesmann Epithelial Corneal Dystrophy, Meesmann Epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Corneal Dystrophy, Meesmann Epithelial OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 Meesmann Corneal Dystrophy OMIM:122100 MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym MECD1 OMIM:122100 corneal dystrophy, meesmann, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122100 MECD1 OMIM:122100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 oculopharyngodistal myopathy OMIM:164310 -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy OMIMPS:164310 MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym oio:hasRelatedSynonym BCH BCH bch OMIM:118700 chorea, benign hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 BCH OMIM:118700 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome amish brittle hair brain syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 Amish brittle hair brain syndrome OMIM:234050 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome BIDS syndrome bids syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 BIDS syndrome OMIM:234050 @@ -19771,7 +17658,6 @@ MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRela MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRelatedSynonym albinism, ocular, type 1 OMIM:300500 albinism, ocular, type 1 OMIM:300500 albinism, ocular, type 1 OMIM:300500 MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia OMIMPS:149400 Hyperekplexia Orphanet:3197 hyperekplexia OMIMPS:149400 MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:118900 -MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:215600 MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym APMR APMR apmr OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203650 APMR OMIM:203650 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 adenomatous polyposis of the colon OMIM:175100 MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym familial polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 familial polyposis of the colon OMIM:175100 @@ -19788,7 +17674,6 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 disseminated sclerosis OMIM:126200 MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical multiple sclerosis, susceptibility to OMIM:126200 MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200, MONDO:Lexical MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to multiple sclerosis, susceptibility to Multiple sclerosis, susceptibility to OMIMPS:126200 Multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical multiple sclerosis, susceptibility to OMIMPS:126200 MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA central centrifugal cicatricial alopecia OMIM:618352 central centrifugal cicatricial alopecia OMIM:618352 CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA OMIM:618352 MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CCCA OMIM:618352 central centrifugal cicatricial alopecia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618352 CCCA OMIM:618352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hair defect with photosensitivity and mental retardation OMIM:234030 hair defect with photosensitivity and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:234030 hair defect with photosensitivity and mental retardation OMIM:234030 @@ -19802,9 +17687,6 @@ MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid hypoplasia OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyroid hypoplasia OMIM:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid, ectopic OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyroid, ectopic OMIM:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 thyrotropin resistance OMIM:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:218700 thyrotropin resistance OMIM:275200 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 resistance to thyrotropin OMIM:609893 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 thyrotropin resistance OMIM:609893 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Drs Drs drs OMIM:126800 duane retraction syndrome 1 OMIM:126800 Drs OMIM:126800 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 OMIM:126800 Duane anomaly OMIM:126800 MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 Duane syndrome OMIM:126800 @@ -19818,7 +17700,6 @@ MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExact MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 Robinow dwarfism OMIM:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 acral dysostosis with Facial and genital abnormalities OMIM:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 fetal face syndrome OMIM:180700 -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma MESH:C535535, OMIM:601631 iris hypoplasia with glaucoma OMIM:308500 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym glaucoma iridogoniodysplasia, familial OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 glaucoma iridogoniodysplasia, familial OMIM:601631 MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 iris hypoplasia with glaucoma OMIM:601631 MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym neuroaxonal dystrophy, infantile OMIM:256600 neurodegeneration with brain iron accumulation 2a OMIM:256600 neuroaxonal dystrophy, infantile OMIM:256600 @@ -19836,7 +17717,6 @@ MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 OMIM:100300 congenital scalp defects with distal limb reduction anomalies OMIM:100300 MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100300 AOS OMIM:100300 MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasRelatedSynonym aniridia II, formerly aniridia II, formerly aniridia ii, formerly OMIM:106210 aniridia 1 OMIM:106210 aniridia II, formerly OMIM:106210 -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia aniridia Aniridia OMIMPS:106210 Aniridia OMIM:106210, OMIM:genemap2 aniridia OMIMPS:106210 MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 neurilemmomatosis, congenital cutaneous OMIM:162091 MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 hereditary renal aplasia OMIM:191830 MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 renal adysplasia OMIM:191830 @@ -19847,21 +17727,16 @@ MONDO:0024521 aortic aneurysm, familial abdominal, 1 oio:hasExactSynonym oio:has MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial cutaneous lichen OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 amyloidosis, familial cutaneous lichen OMIM:105250 MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym lichen amyloidosis, familial OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 lichen amyloidosis, familial OMIM:105250 MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA OMIM:105250 -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic stenosis, calcific OMIM:109730 aortic valve disease 1 OMIM:109730 aortic stenosis, calcific OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve disease OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, bicuspid OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve, bicuspid OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, calcification of OMIM:109730 aortic valve disease 1 OMIM:109730 aortic valve, calcification of OMIM:109730 MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:109730 bicuspid aortic valve OMIM:109730 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:109730 bicuspid aortic valve OMIM:614823 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:109730 bicuspid aortic valve OMIM:618496 -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease aortic valve disease Aortic valve disease OMIMPS:109730 Aortic valve disease OMIM:109730 aortic valve disease OMIMPS:109730 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome Fanconi renotubular syndrome fanconi renotubular syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Fanconi renotubular syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi syndrome without cystinosis Fanconi syndrome without cystinosis fanconi syndrome without cystinosis OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Fanconi syndrome without cystinosis OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Luder-Sheldon syndrome Luder-Sheldon syndrome luder-sheldon syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 Luder-Sheldon syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome adult Fanconi syndrome adult fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 adult Fanconi syndrome OMIM:134600 MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal Fanconi syndrome renal Fanconi syndrome renal fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 renal Fanconi syndrome OMIM:134600 -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome OMIMPS:134600 Fanconi renotubular syndrome OMIM:134600 Fanconi renotubular syndrome OMIMPS:134600 MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 Laband syndrome OMIM:135500 MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly OMIM:135500 MONDO:0024527 glomerulopathy with fibronectin deposits 1 oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950 glomerulopathy with giant fibrillar deposits OMIM:137950 @@ -19879,15 +17754,11 @@ MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Beth MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasBroadSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810 Bethlem myopathy 1 OMIM:158810 MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, benign congenital OMIM:158810 bethlem myopathy 1a OMIM:158810 muscular dystrophy, benign congenital OMIM:158810 MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym myopathy, benign congenital, with contractures OMIM:158810 bethlem myopathy 1a OMIM:158810 myopathy, benign congenital, with contractures OMIM:158810 -MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy OMIMPS:158810 Bethlem myopathy OMIM:158810 Bethlem myopathy OMIMPS:158810 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 myopathy, tubular aggregate OMIM:160565 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 tubular aggregate myopathy OMIM:160565 MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565 TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate myopathy, tubular aggregate Myopathy, tubular aggregate OMIMPS:160565 Myopathy, tubular aggregate OMIM:160565 myopathy, tubular aggregate OMIMPS:160565 -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OFC1 OMIM:119530 orofacial cleft 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OFC1 OMIM:119530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OFC OFC ofc OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OFC OMIM:166780 MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OTFCS OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 OTFCS OMIM:166780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym otofaciocervical syndrome otofaciocervical syndrome Otofaciocervical syndrome OMIMPS:166780 Otofaciocervical syndrome OMIM:166780, OMIM:genemap2 otofaciocervical syndrome OMIMPS:166780 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary arterial hypertension OMIM:178600 pulmonary hypertension, primary, 1 OMIM:178600 pulmonary arterial hypertension OMIM:178600 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHT PHT pht OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 PHT OMIM:178600 MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PPH1 OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 PPH1 OMIM:178600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19912,12 +17783,10 @@ MONDO:0024538 basal ganglia calcification, idiopathic, 1 oio:hasExactSynonym oio MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal dystrophy, central areolar OMIM:215500 MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal sclerosis OMIM:215500 MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215500 CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar choroidal dystrophy, central areolar Choroidal dystrophy, central areolar OMIMPS:215500 Choroidal dystrophy, central areolar OMIM:215500 choroidal dystrophy, central areolar OMIMPS:215500 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Surdo-Cardiac syndrome Surdo-Cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 Surdo-Cardiac syndrome OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 deafness, congenital, and functional heart disease OMIM:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400 JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Jervell and Lange-Nielsen syndrome OMIMPS:220400 Jervell and Lange-Nielsen syndrome OMIM:genemap2, OMIM:220400 Jervell and Lange-Nielsen syndrome OMIMPS:220400 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym The syndrome The syndrome the syndrome OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 The syndrome OMIM:222470 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, syndromic OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 diarrhea, syndromic OMIM:222470 @@ -19933,7 +17802,6 @@ MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility OMIM:229200 brittle cornea syndrome 1 OMIM:229200 corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility OMIM:229200 MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym dysgenesis Mesodermalis corneae Et sclerae dysgenesis Mesodermalis corneae Et sclerae dysgenesis mesodermalis corneae et sclerae OMIM:229200 brittle cornea syndrome 1 OMIM:229200 dysgenesis Mesodermalis corneae Et sclerae OMIM:229200 MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:229200 BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:229200 Ehlers-Danlos syndrome, type Vib, formerly OMIM:601776 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 MIYOSHI muscular dystrophy 1 OMIM:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy Miyoshi myopathy miyoshi myopathy OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 Miyoshi myopathy OMIM:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 @@ -19943,8 +17811,6 @@ MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 Touraine-Solente-Gole syndrome OMIM:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 pachydermoperiostosis, autosomal recessive OMIM:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100 PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 PDP, autosomal recessive OMIM:614441 -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 pachydermoperiostosis, autosomal recessive OMIM:614441 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pagen Pagen pagen OMIM:260370 pancreatic agenesis 1 OMIM:260370 Pagen OMIM:260370 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic hypoplasia, congenital OMIM:260370 pancreatic agenesis 1 OMIM:260370 pancreatic hypoplasia, congenital OMIM:260370 MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260370 PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19953,7 +17819,6 @@ MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym skin peeling, familial continuous generalized OMIM:270300 peeling skin syndrome 1 OMIM:270300 skin peeling, familial continuous generalized OMIM:270300 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS OMIM:270300 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 OMIM:270300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS OMIM:601224 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 FRONTOMETAPHYSEAL dysplasia 1 OMIM:305620 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Fmd Fmd fmd OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 Fmd OMIM:305620 MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 FMD1 OMIM:305620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -19977,7 +17842,6 @@ MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasEx MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM:600462 mitochondrial myopathy and sideroblastic anemia OMIM:600462 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 MLASA1 OMIM:600462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 D2HGA1 OMIM:600721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria OMIMPS:600721 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 D-2-hydroxyglutaric aciduria OMIMPS:600721 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Lvm Lvm lvm OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Lvm OMIM:604004 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease Van Der Knaap disease van der knaap disease OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 Van Der Knaap disease OMIM:604004 @@ -19987,7 +17851,6 @@ MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:h MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 epilepsy, familial focal, with variable foci OMIM:604364 MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, partial, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 epilepsy, partial, with variable foci OMIM:604364 MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 OMIM:604364 epilepsy, familial focal, with variable foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 FFEVF1 OMIM:604364 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci OMIMPS:604364 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym Atld Atld atld OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391 Atld OMIM:604391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Rusat Rusat rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM:605432 Rusat OMIM:605432 @@ -19998,7 +17861,6 @@ MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRe MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 aortic aneurysm, familial thoracic OMIM:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic dissection, familial OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 aortic dissection, familial OMIM:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym FAA1 FAA1 faa1 OMIM:607086 aortic aneurysm, familial thoracic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607086 FAA1 OMIM:607086 -MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic aortic aneurysm, familial thoracic Aortic aneurysm, familial thoracic OMIMPS:607086 Aortic aneurysm, familial thoracic OMIM:607086 aortic aneurysm, familial thoracic OMIMPS:607086 MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus 1 OMIM:607411 patent ductus arteriosus 1 OMIM:607411 patent ductus arteriosus 1 OMIM:607411 MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607411 PDA OMIM:607411 MONDO:0024561 vitelliform macular dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym foveomacular dystrophy, adult-onset OMIM:608161 macular dystrophy, vitelliform, 3 OMIM:608161 foveomacular dystrophy, adult-onset OMIM:608161 @@ -20025,7 +17887,6 @@ MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteris MONDO:0024568 infantile liver failure syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ILFS1 OMIM:615438 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615438 ILFS1 OMIM:615438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024570 hyperparathyroidism 4 oio:hasExactSynonym oio:hasRelatedSynonym HRPT4 OMIM:617343 hyperparathyroidism 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617343 HRPT4 OMIM:617343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym MDCCAID OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617404 MDCCAID OMIM:617404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oio:hasRelatedSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 1 X INACTIVATION, FAMILIAL SKEWED, 1 x inactivation, familial skewed, 1 OMIM:300087 x inactivation, familial skewed, 1 OMIM:300087 X INACTIVATION, FAMILIAL SKEWED, 1 OMIM:300087 MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym SXI1 OMIM:300087 x inactivation, familial skewed, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300087 SXI1 OMIM:300087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0026426 X inactivation, familial skewed, 2 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 2 X INACTIVATION, FAMILIAL SKEWED, 2 x inactivation, familial skewed, 2 OMIM:300179 x inactivation, familial skewed, 2 OMIM:300179 X INACTIVATION, FAMILIAL SKEWED, 2 OMIM:300179 @@ -20069,7 +17930,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 OMIM:301051 immunodeficiency 74, covid19-related, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 IMD74 OMIM:301051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 DOID:0070075 chromosome 9q34.3 deletion syndrome OMIM:610253 MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym KLEFS1 OMIM:610253 kleefstra syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610253 KLEFS1 OMIM:610253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome DOID:0070075 Kleefstra syndrome OMIMPS:610253 MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2d OMIM:617403 cutis laxa, autosomal recessive, type 2d OMIM:617403 cutis laxa, autosomal recessive, type 2D OMIM:617403 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2c OMIM:617402 cutis laxa, autosomal recessive, type 2c OMIM:617402 cutis laxa, autosomal recessive, type 2C OMIM:617402 MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym ARCL2C OMIM:617402 cutis laxa, autosomal recessive, type 2c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617402 ARCL2C OMIM:617402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -20110,8 +17970,6 @@ MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 77 OMIM:618915 deafness, autosomal dominant 77 OMIM:618915, OMIM:genemap2 deafness, autosomal dominant 77 OMIM:618915 MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 OMIM:618915 deafness, autosomal dominant 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 DFNA77 OMIM:618915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 OMIM:619396 herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:619398 inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 MONDO:0030480 hearing loss, autosomal recessive 119 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 119 OMIM:619615 deafness, autosomal recessive 119 OMIM:619615 deafness, autosomal recessive 119 OMIM:619615 @@ -20120,8 +17978,6 @@ MONDO:0030719 hearing loss, autosomal dominant 82 oio:hasExactSynonym oio:hasNar MONDO:0030723 hearing loss, autosomal dominant 83 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 83 OMIM:619808 deafness, autosomal dominant 83 OMIM:619808 deafness, autosomal dominant 83 OMIM:619808 MONDO:0030724 hearing loss, autosomal dominant 84 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 84 OMIM:619810 deafness, autosomal dominant 84 OMIM:619810 deafness, autosomal dominant 84 OMIM:619810 MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities oio:hasExactSynonym oio:hasBroadSynonym NEDMILEG OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619092 NEDMILEG OMIM:619092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure OMIM:619145, OMIM:genemap2 spermatogenic failure OMIMPS:258150 -MONDO:0030903 Hermansky-Pudlak syndrome 11 oio:hasExactSynonym oio:hasBroadSynonym Hermansky-Pudlak syndrome OMIMPS:203300 Hermansky-Pudlak syndrome OMIM:619172 Hermansky-Pudlak syndrome OMIMPS:203300 MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 117 OMIM:619174 deafness, autosomal recessive 117 OMIM:genemap2, OMIM:619174 deafness, autosomal recessive 117 OMIM:619174 MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym DFNB117 OMIM:619174 deafness, autosomal recessive 117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619174 DFNB117 OMIM:619174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked 106 OMIM:300997 intellectual developmental disorder, X-linked 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 mental retardation, X-linked 106 OMIM:300997 @@ -20155,21 +18011,12 @@ MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio: MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio:hasExactSynonym oio:hasRelatedSynonym MRD55 OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617831 MRD55 OMIM:617831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 mental retardation, autosomal dominant 56 OMIM:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym MRD56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 MRD56 OMIM:617854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 oio:hasExactSynonym oio:hasBroadSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:genemap2, OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 80 OMIM:619274 deafness, autosomal dominant 80 OMIM:genemap2, OMIM:619274 deafness, autosomal dominant 80 OMIM:619274 MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym DFNA80 OMIM:619274 deafness, autosomal dominant 80 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619274 DFNA80 OMIM:619274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angioma, familial OMIM:116860 cerebral cavernous malformations OMIM:116860 cavernous angioma, familial OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cavernous angiomatous malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 cerebral capillary malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIM:116860 -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 cerebral cavernous malformations OMIMPS:116860 -MONDO:0031213 restrictive dermopathy oio:hasExactSynonym oio:hasNarrowSynonym hyperkeratosis-contracture syndrome OMIM:275210 restrictive dermopathy 1 DOID:0060762 hyperkeratosis-contracture syndrome OMIM:275210 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 DOID:2219, MONDO:Lexical, OMIM:273800 Glanzmann thrombasthenia OMIM:273800 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein IIb-IIIa deficiency Platelet glycoprotein IIb-IIIa deficiency platelet glycoprotein iib-iiia deficiency OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 Platelet glycoprotein IIb-IIIa deficiency OMIM:273800 MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 2 bleeding disorder, Platelet-type, 2 bleeding disorder, platelet-type, 2 OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 bleeding disorder, Platelet-type, 2 OMIM:273800 -MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia DOID:2219, MONDO:Lexical, OMIM:273800 Glanzmann thrombasthenia OMIMPS:273800 -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym microcephaly, epilepsy, and diabetes syndrome microcephaly, epilepsy, and diabetes syndrome Microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome OMIM:genemap2, OMIM:614231, MONDO:Lexical microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym Mental Retardation, Autosomal Dominant 61 Mental Retardation, Autosomal Dominant 61 mental retardation, autosomal dominant 61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 OMIM:618009 Mental Retardation, Autosomal Dominant 61 OMIM:618009 MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym MRD61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618009 MRD61 OMIM:618009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032526 spinocerebellar ataxia 48 oio:hasExactSynonym oio:hasRelatedSynonym SPINOCEREBELLAR ATAXIA 48 SPINOCEREBELLAR ATAXIA 48 spinocerebellar ataxia 48 OMIM:618093 spinocerebellar ataxia 48 OMIM:618093 SPINOCEREBELLAR ATAXIA 48 OMIM:618093 @@ -20460,7 +18307,6 @@ MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3KS OMIM:618460 khan-khan-katsanis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618460 3KS OMIM:618460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BLEEDING DISORDER, PLATELET-TYPE, 22 BLEEDING DISORDER, PLATELET-TYPE, 22 bleeding disorder, platelet-type, 22 OMIM:618462 bleeding disorder, platelet-type, 22 OMIM:618462 BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM:618462 MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BDPLT22 OMIM:618462 bleeding disorder, platelet-type, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618462 BDPLT22 OMIM:618462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:618463 High Density Lipoprotein Deficiency OMIM:604091 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Apolipoprotein A-I Deficiency Apolipoprotein A-I Deficiency apolipoprotein a-i deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 Apolipoprotein A-I Deficiency OMIM:618463 MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 High Density Lipoprotein Deficiency OMIM:618463 MONDO:0032767 paragangliomas 6 oio:hasExactSynonym oio:hasRelatedSynonym PARAGANGLIOMAS 6 PARAGANGLIOMAS 6 paragangliomas 6 OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 OMIM:618464 PARAGANGLIOMAS 6 OMIM:618464 @@ -20780,7 +18626,6 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 polycystic kidney disease, autosomal recessive OMIM:263200 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, infantile, type 1 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 polycystic kidney disease, infantile, type 1 OMIM:263200 MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD4 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263200 PKD4 OMIM:263200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 PKD3 OMIM:600666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 Galloway syndrome OMIM:251300 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 nephrosis-microcephaly syndrome OMIM:251300 @@ -20798,7 +18643,6 @@ MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynony MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 erythrokeratodermia, progressive symmetric OMIM:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym EKVP1 OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133200 EKVP1 OMIM:133200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis Et progressiva erythrokeratodermia variabilis Et progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200 erythrokeratodermia variabilis Et progressiva OMIMPS:133200 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis ET progressiva 2 OMIM:617524 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym EKVP2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617524 EKVP2 OMIM:617524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis ET progressiva 3 OMIM:617525 @@ -20965,14 +18809,12 @@ MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym eosinophil peroxidase deficiency, partial OMIM:261500 eosinophil peroxidase deficiency GARD:0012361, MESH:C564893 eosinophil peroxidase deficiency, partial OMIM:261500 MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym presentey anomaly OMIM:261500 eosinophil peroxidase deficiency presentey anomaly OMIM:261500 MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EPXD OMIM:261500 eosinophil peroxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261500, GARD:0012361 EPXD OMIM:261500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044203 foveal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FVH OMIM:618549 hepatitis, fulminant viral, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical FVH OMIM:618549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Bodian syndrome OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 Shwachman-Diamond syndrome OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 lipomatosis of pancreas, congenital OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 pancreatic insufficiency and bone marrow dysfunction OMIM:260400 MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SDS1 OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260400 SDS1 OMIM:260400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044205 Shwachman-Diamond syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym SDS2 OMIM:617941 shwachman-diamond syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617941 SDS2 OMIM:617941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome Weissenbacher-Zweymuller syndrome weissenbacher-zweymuller syndrome OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:215150 Weissenbacher-Zweymuller syndrome OMIM:184840 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Nance-Insley syndrome OMIM:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Nance-Sweeney chondrodysplasia OMIM:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome, formerly Weissenbacher-Zweymuller syndrome, formerly weissenbacher-zweymuller syndrome, formerly OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 Weissenbacher-Zweymuller syndrome, formerly OMIM:215150 @@ -20982,7 +18824,6 @@ MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasEx MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 lactoferrin-deficient neutrophils OMIM:245480 MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 neutrophil lactoferrin deficiency OMIM:245480 MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym SGD1 OMIM:245480 specific granule deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245480 SGD1 OMIM:245480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym specific granule deficiency specific granule deficiency Specific granule deficiency OMIMPS:245480 Specific granule deficiency OMIM:245480, OMIM:genemap2 specific granule deficiency OMIMPS:245480 MONDO:0044208 specific granule deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym SGD2 OMIM:617475 specific granule deficiency 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617475 SGD2 OMIM:617475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym Prepl deficiency Prepl deficiency prepl deficiency OMIM:616224 myasthenic syndrome, congenital, 22 OMIM:616224 Prepl deficiency OMIM:616224 MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym CMS22 OMIM:616224 myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616224 CMS22 OMIM:616224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -21067,7 +18908,6 @@ MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym sp MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, Menger type OMIM:607095 MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia OMIM:607095 anauxetic dysplasia OMIMPS:607095 MONDO:0054561 anauxetic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym ANXD2 OMIM:617396 anauxetic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617396 ANXD2 OMIM:617396 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 short-rib thoracic dysplasia 17 with or without POLYDACTYLY OMIM:617405 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym SRTD17 OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617405 SRTD17 OMIM:617405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -21133,7 +18973,6 @@ MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos with Other malformations OMIM:219000 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 OMIM:219000 cryptophthalmos-syndactyly syndrome OMIM:219000 MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 FRASRS1 OMIM:219000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome OMIM:219000 Fraser syndrome OMIMPS:219000 MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 OMIM:617666 fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 FRASRS2 OMIM:617666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 OMIM:617667 fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 FRASRS3 OMIM:617667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 BCD syndrome OMIM:119580 @@ -21143,7 +18982,6 @@ MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelated MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ectropion, Inferior, with cleft 51P and/Or palate ectropion, Inferior, with cleft 51P and/Or palate ectropion, inferior, with cleft 51p and/or palate OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 ectropion, Inferior, with cleft 51P and/Or palate OMIM:119580 MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 elschnig syndrome OMIM:119580 MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome OMIMPS:119580 MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 OMIM:617872 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 COXPD34 OMIM:617872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 OMIM:617873 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 COXPD35 OMIM:617873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054743 polycystic liver disease 3 with or without kidney cysts oio:hasExactSynonym oio:hasRelatedSynonym PCLD3 OMIM:617874 polycystic liver disease 3 with or without kidney cysts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617874 PCLD3 OMIM:617874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -21297,7 +19135,6 @@ MONDO:0060711 Jaberi-Elahi syndrome oio:hasExactSynonym oio:hasRelatedSynonym JA MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon oio:hasExactSynonym oio:hasRelatedSynonym DCHE OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617992 DCHE OMIM:617992 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HFTC2 OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617993 HFTC2 OMIM:617993 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 oio:hasExactSynonym oio:hasRelatedSynonym HFTC3 OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617994 HFTC3 OMIM:617994 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0060720 congenital disorder of glycosylation with defective fucosylation oio:hasExactSynonym oio:hasRelatedSynonym CDGF CDGF cdgf OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618005 CDGF OMIM:618005 MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 oio:hasExactSynonym oio:hasRelatedSynonym GPIBD17 OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618010 GPIBD17 OMIM:618010 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060729 protoporphyria, erythropoietic, 2 oio:hasExactSynonym oio:hasRelatedSynonym EPP2 OMIM:618015 protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618015 EPP2 OMIM:618015 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060732 tetraamelia syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 tetraamelia syndrome 2 OMIM:618021 tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 @@ -21324,7 +19161,6 @@ MONDO:0100083 hereditary thrombocytopenia and hematological cancer predispositio MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 platelet disorder, familial, with associated myeloid malignancy https://clinicalgenome.org/affiliation/50034/, OMIM:601399 thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym FPDMM OMIM:601399 platelet disorder, familial, with associated myeloid malignancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, https://clinicalgenome.org/affiliation/50034/, OMIM:601399 FPDMM OMIM:601399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100093 myoclonus, familial, 1 oio:hasExactSynonym oio:hasBroadSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 OMIM:614937 myoclonus, familial cortical OMIM:614937 -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIMPS:606176 diabetes mellitus, permanent, of infancy OMIM:606176 MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent neonatal diabetes mellitus, permanent neonatal Diabetes mellitus, permanent neonatal OMIMPS:606176 Diabetes mellitus, permanent neonatal OMIMPS:606176, MONDO:Lexical diabetes mellitus, permanent neonatal OMIMPS:606176 MONDO:0100165 permanent neonatal diabetes mellitus 1 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIM:606176 diabetes mellitus, permanent, of infancy OMIM:606176 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency GTP cyclohydrolase 1 deficiency gtp cyclohydrolase 1 deficiency OMIM:233910 hyperphenylalaninemia, bh4-deficient, B OMIM:233910 GTP cyclohydrolase 1 deficiency OMIM:233910 @@ -21338,10 +19174,7 @@ MONDO:0100255 adenosine kinase deficiency oio:hasExactSynonym oio:hasRelatedSyno MONDO:0100288 enhanced S-cone syndrome oio:hasExactSynonym oio:hasRelatedSynonym ESCS OMIM:268100 enhanced s-cone syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268100, MONDO:Lexical ESCS OMIM:268100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate CoQ reductase deficiency succinate CoQ reductase deficiency succinate coq reductase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 OMIM:252011 succinate CoQ reductase deficiency OMIM:252011 MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate dehydrogenase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 GARD:0005053 succinate dehydrogenase deficiency OMIM:252011 -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome OMIMPS:614594 Olmsted syndrome Orphanet:659 Olmsted syndrome OMIMPS:614594 -MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 odontochondrodysplasia 1 OMIM:184260 spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 -MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym odontochondrodysplasia odontochondrodysplasia Odontochondrodysplasia OMIMPS:184260 Odontochondrodysplasia OMIM:184260 odontochondrodysplasia OMIMPS:184260 MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia Friedreich ataxia friedreich ataxia OMIM:229300 friedreich ataxia OMIM:229300, OMIM:genemap2 Friedreich ataxia OMIM:229300 MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Bartter syndrome, type 1, antenatal Bartter syndrome, type 1, antenatal bartter syndrome, type 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 Bartter syndrome, type 1, antenatal OMIM:601678 MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 @@ -21351,7 +19184,6 @@ MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelat MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia OMIM:128200 episodic kinesigenic dyskinesia 1 OMIM:128200 paroxysmal kinesigenic dyskinesia OMIM:128200 MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym EKD1 OMIM:128200 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:128200, MONDO:Lexical EKD1 OMIM:128200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0007960, OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960, OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Chondrodystrophic myotonia Chondrodystrophic myotonia chondrodystrophic myotonia OMIM:255800 schwartz-jampel syndrome, type 1 OMIM:255800 Chondrodystrophic myotonia OMIM:255800 MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 1 Schwartz-Jampel syndrome, type 1 schwartz-jampel syndrome, type 1 OMIM:255800 schwartz-jampel syndrome, type 1 MONDO:Lexical, OMIM:255800 Schwartz-Jampel syndrome, type 1 OMIM:255800 MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSynonym proliferative vitreoretinopathy OMIM:193235 vitreoretinopathy, neovascular inflammatory https://clinicalgenome.org/affiliation/40072/, MONDO:0006928 proliferative vitreoretinopathy OMIM:193235 @@ -21361,7 +19193,6 @@ MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSy MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSynonym oio:hasRelatedSynonym athelia OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 MESH:C535565, OMIM:113700 athelia OMIM:113700 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease, formerly Humeroperoneal neuromuscular disease, formerly humeroperoneal neuromuscular disease, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 Humeroperoneal neuromuscular disease, formerly OMIM:310300 MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, x-linked, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 scapuloperoneal syndrome, X-linked, formerly OMIM:310300 -MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:310300, OMIM:genemap2 Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, familial paroxysmal OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 choreoathetosis, familial paroxysmal OMIM:118800 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, nonkinesigenic OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 choreoathetosis, nonkinesigenic OMIM:118800 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym dystonia 8 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 dystonia 8 OMIM:118800 @@ -21370,37 +19201,20 @@ MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:has MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PNKD1 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118800 PNKD1 OMIM:118800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Teebi hypertelorism syndrome teebi hypertelorism syndrome OMIM:145420 teebi hypertelorism syndrome 1 Orphanet:1519 Teebi hypertelorism syndrome OMIM:145420 MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hypertelorism, Teebi type hypertelorism, Teebi type hypertelorism, teebi type OMIM:145420 teebi hypertelorism syndrome 1 OMIM:145420 hypertelorism, Teebi type OMIM:145420 -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome OMIMPS:145420 Teebi hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome OMIMPS:145420 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym central hypoventilation syndrome, congenital central hypoventilation syndrome, congenital Central hypoventilation syndrome, congenital OMIMPS:209880 Central hypoventilation syndrome, congenital MONDO:Lexical, OMIM:209880 central hypoventilation syndrome, congenital OMIMPS:209880 -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym leukoencephalopathy, hereditary diffuse, with spheroids leukoencephalopathy, hereditary diffuse, with spheroids Leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids OMIM:221820 leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary fibrosis, idiopathic OMIM:178500 interstitial lung disease 2 MONDO:Lexical, OMIM:178500 pulmonary fibrosis, idiopathic OMIM:178500 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym intestinal atresia, multiple OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 OMIM:243150 intestinal atresia, multiple OMIM:243150 -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy restrictive dermopathy Restrictive dermopathy OMIMPS:275210 Restrictive dermopathy Orphanet:1662 restrictive dermopathy OMIMPS:275210 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 2 Schwartz-Jampel syndrome, type 2 schwartz-jampel syndrome, type 2 OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Schwartz-Jampel syndrome, type 2 OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome stuve-wiedemann/schwartz-jampel type 2 syndrome OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stws Stws stws OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 Stws OMIM:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS OMIM:601559 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STUVE-Wiedemann syndrome STUVE-Wiedemann syndrome Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome OMIM:601559 STUVE-Wiedemann syndrome OMIMPS:601559 -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome Stuve-Wiedemann syndrome OMIMPS:601559 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation OMIM:615273 MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type iv, formerly OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273 congenital disorder of glycosylation, type IV, formerly OMIM:615273 -MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital disorder of deglycosylation OMIMPS:615273 Congenital disorder of deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical congenital disorder of deglycosylation OMIMPS:615273 -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 oio:hasExactSynonym oio:hasBroadSynonym autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome, familial, Behcet-like Autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like OMIM:616744 autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 -MONDO:0800046 thyroid hormone metabolism, abnormal 1 oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone metabolism, abnormal thyroid hormone metabolism, abnormal Thyroid hormone metabolism, abnormal OMIMPS:609698 Thyroid hormone metabolism, abnormal OMIM:609698 thyroid hormone metabolism, abnormal OMIMPS:609698 -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KNO KNO kno OMIM:267750 knobloch syndrome 1 OMIM:267750 KNO OMIM:267750 MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal detachment and occipital encephalocele OMIM:267750 knobloch syndrome 1 OMIM:267750 retinal detachment and occipital encephalocele OMIM:267750 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFZS CFZS cfzs OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003889, OMIM:254940 CFZS OMIM:254940 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome Loucks-Innes syndrome loucks-innes syndrome OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM:616901 Loucks-Innes syndrome OMIM:616901 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair developmental delay with short stature, dysmorphic facial features, and sparse hair Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIM:genemap2, OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym childhood ataxia with central nervous system hypomyelinization OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 childhood ataxia with central nervous system hypomyelinization OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 vanishing White matter leukodystrophy OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 DOID:0060868 vanishing white matter leukodystrophy OMIM:603896 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 Cree leukoencephalopathy OMIM:620315 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter OMIMPS:603896 Leukoencephalopathy with vanishing white matter OMIM:603896 leukoencephalopathy with vanishing WHITE matter OMIMPS:603896 MONDO:0859366 hearing loss, autosomal dominant 85 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 85 OMIM:620227 deafness, autosomal dominant 85 OMIM:620227 deafness, autosomal dominant 85 OMIM:620227 MONDO:0859374 hearing loss, autosomal recessive 120 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 120 OMIM:620238 deafness, autosomal recessive 120 OMIM:620238 deafness, autosomal recessive 120 OMIM:620238 @@ -21410,16 +19224,11 @@ MONDO:0958232 hearing loss, autosomal dominant 90 oio:hasExactSynonym oio:hasNar MONDO:0958277 hearing loss, autosomal recessive 123 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 123 OMIM:620745 deafness, autosomal recessive 123 OMIM:620745 deafness, autosomal recessive 123 OMIM:620745 MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 124 OMIM:620794 deafness, autosomal recessive 124 OMIM:620794 deafness, autosomal recessive 124 OMIM:620794 MONDO:0971152 hearing loss, autosomal recessive 125 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 125 OMIM:620877 deafness, autosomal recessive 125 ORCID:0000-0002-4142-7153, OMIM:620877 deafness, autosomal recessive 125 OMIM:620877 -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome OMIMPS:193670 WHIM syndrome OMIM:193670, MONDO:Lexical WHIM syndrome OMIMPS:193670 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 OMIM:212720 MARTSOLF syndrome OMIM:212720 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Martsolf syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 Orphanet:1387 Martsolf syndrome OMIM:212720 -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome OMIMPS:212720 Martsolf syndrome OMIM:212720 MARTSOLF syndrome OMIMPS:212720 -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome OMIMPS:212720 Martsolf syndrome Orphanet:1387 Martsolf syndrome OMIMPS:212720 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Argyrophil myenteric plexus, deficiency of Argyrophil myenteric plexus, deficiency of argyrophil myenteric plexus, deficiency of OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 Argyrophil myenteric plexus, deficiency of OMIM:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction due to neuronal disease OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 intestinal pseudoobstruction due to neuronal disease OMIM:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym oio:hasBroadSynonym neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:Lexical, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 -MONDO:8000013 portal hypertension, noncirrhotic, 1 oio:hasExactSynonym oio:hasBroadSynonym portal hypertension, noncirrhotic portal hypertension, noncirrhotic Portal hypertension, noncirrhotic OMIMPS:617068 Portal hypertension, noncirrhotic OMIM:617068 portal hypertension, noncirrhotic OMIMPS:617068 MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym anorchia, familial OMIM:273250 46,xy sex reversal 11 OMIM:273250 anorchia, familial OMIM:273250 MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym testicular regression, embryonic OMIM:273250 46,xy sex reversal 11 OMIM:273250 testicular regression, embryonic OMIM:273250 MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency non-acquired isolated growth hormone deficiency Non-acquired isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency DOID:0060870 non-acquired isolated growth hormone deficiency Orphanet:631 @@ -21427,25 +19236,16 @@ MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym rare ataxia rare ataxia Rare ataxia Orphanet:102002 Rare ataxia Orphanet:102002 rare ataxia Orphanet:102002 MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome Orphanet:51083 Familial short QT syndrome Orphanet:51083 familial short QT syndrome Orphanet:51083 MONDO:0000455 cone dystrophy oio:hasExactSynonym oio:hasNarrowSynonym progressive cone dystrophy progressive cone dystrophy Progressive cone dystrophy Orphanet:1871 Progressive cone dystrophy https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871 progressive cone dystrophy Orphanet:1871 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:D004422 Idiopathic torsion dystonia Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans dystonia musculorum deformans Dystonia musculorum deformans Orphanet:256 Early-onset generalized limb-onset dystonia DOID:0050835 dystonia musculorum deformans Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia ICD9CM:333.6, DOID:0050835 idiopathic torsion dystonia Orphanet:256 -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 dystonia 12 Dystonia 12 Orphanet:71517 Rapid-onset dystonia-parkinsonism DOID:0050835 dystonia 12 Orphanet:71517 MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary essential myoclonus Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 Hereditary essential myoclonus Orphanet:36899 MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-responsive dystonia alcohol-responsive dystonia Alcohol-responsive dystonia Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 alcohol-responsive dystonia Orphanet:36899 MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym genetic periodic paralysis genetic periodic paralysis Genetic periodic paralysis Orphanet:371433 Genetic periodic paralysis Orphanet:371433, GARD:0006422 genetic periodic paralysis Orphanet:371433 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus flea-borne typhus Flea-borne typhus Orphanet:83315 Murine typhus DOID:11256 flea-borne typhus Orphanet:83315 -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus murine typhus Murine typhus Orphanet:83315 Murine typhus DOID:11256 murine typhus Orphanet:83315 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis Orphanet:280892 Posterior uveitis NORD:1601 Posterior Uveitis Orphanet:280892 MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis Orphanet:280892 Posterior uveitis MONDO:ambiguous, NCIT:C35111 posterior uveitis Orphanet:280892 MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis Orphanet:3386 American trypanosomiasis DOID:12140 American trypanosomiasis Orphanet:3386 -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Orphanet:93473 Hurler syndrome DOID:12802 Hurler syndrome Orphanet:93473 MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasNarrowSynonym BHC Orphanet:1429 Benign hereditary chorea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 BHC Orphanet:1429 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasNarrowSynonym rare constitutional aplastic anemia rare constitutional aplastic anemia Rare constitutional aplastic anemia Orphanet:68383 Rare constitutional aplastic anemia Orphanet:68383 rare constitutional aplastic anemia Orphanet:68383 MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasRelatedSynonym LM Orphanet:2415 Rare lymphatic malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2415 LM Orphanet:2415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:66637 Diaphanospondylodysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD Orphanet:66637 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:90771 Difference of sex development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 DSD Orphanet:90771 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of lipid metabolism disorder of lipid metabolism Disorder of lipid metabolism Orphanet:309005 Disorder of lipid metabolism MONDO:0017707 disorder of lipid metabolism Orphanet:309005 MONDO:0002653 Paget disease of the penis oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of the penis adenocarcinoma of the penis Adenocarcinoma of the penis Orphanet:398053 Adenocarcinoma of the penis Orphanet:398053 adenocarcinoma of the penis Orphanet:398053 MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilkie syndrome Orphanet:622099 Superior mesenteric artery syndrome GARD:0007712 Wilkie syndrome Orphanet:622099 @@ -21462,25 +19262,18 @@ MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:h MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma of the bladder small cell carcinoma of the bladder Small cell carcinoma of the bladder Orphanet:284400 Small cell carcinoma of the bladder Orphanet:284400 small cell carcinoma of the bladder Orphanet:284400 MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym oio:hasRelatedSynonym chronic lymphoproliferative disorder of natural killer cells chronic lymphoproliferative disorder of natural killer cells Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 MONDO:0004334 non-functional pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym non-functioning neuroendocrine tumor of pancreas non-functioning neuroendocrine tumor of pancreas Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 non-functioning neuroendocrine tumor of pancreas Orphanet:506075 -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma Orphanet:86902 Follicular dendritic cell sarcoma DOID:7849 follicular dendritic cell sarcoma Orphanet:86902 MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell carcinoma of the cervix uteri glassy cell carcinoma of the cervix uteri Glassy cell carcinoma of the cervix uteri Orphanet:213833 Glassy cell carcinoma of the cervix uteri Orphanet:213833 glassy cell carcinoma of the cervix uteri Orphanet:213833 MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of urea cycle metabolism and ammonia detoxification disorder of urea cycle metabolism and ammonia detoxification Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 MONDO:0004745 priapism oio:hasExactSynonym oio:hasNarrowSynonym low-flow priapism low-flow priapism Low-flow priapism Orphanet:140949 Low-flow priapism Orphanet:140949 low-flow priapism Orphanet:140949 MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym small lymphocytic lymphoma small lymphocytic lymphoma Small lymphocytic lymphoma Orphanet:67038 B-cell chronic lymphocytic leukemia Orphanet:67038 small lymphocytic lymphoma Orphanet:67038 -MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym familial dilated cardiomyopathy familial dilated cardiomyopathy Familial dilated cardiomyopathy Orphanet:217607 Familial dilated cardiomyopathy DOID:12930, MESH:C536231 familial dilated cardiomyopathy Orphanet:217607 MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET Orphanet:3318 Essential thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 ET Orphanet:3318 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Orphanet:801 Scleroderma DOID:418 Scleroderma Orphanet:801 MONDO:0005103 well-differentiated liposarcoma oio:hasExactSynonym oio:hasBroadSynonym atypical lipomatous tumor atypical lipomatous tumor Atypical lipomatous tumor Orphanet:99971 Well-differentiated liposarcoma Orphanet:99971 atypical lipomatous tumor Orphanet:99971 -MONDO:0005201 restrictive cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Orphanet:217635 Familial restrictive cardiomyopathy DOID:397 familial restrictive cardiomyopathy Orphanet:217635 -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma Orphanet:319319 Renal medullary carcinoma DOID:4464, NCIT:C7572 renal medullary carcinoma Orphanet:319319 MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Fuchs endothelial corneal dystrophy Orphanet:98974 Fuchs endothelial corneal dystrophy Orphanet:98974 Fuchs endothelial corneal dystrophy Orphanet:98974 -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism Orphanet:228371 Foodborne botulism DOID:11976 foodborne botulism Orphanet:228371 MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma Orphanet:86855 Plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 solitary plasmacytoma Orphanet:86855 MONDO:0005645 ancylostomiasis oio:hasExactSynonym oio:hasBroadSynonym hookworm infection hookworm infection Hookworm infection Orphanet:78 Ankylostomiasis Orphanet:78 hookworm infection Orphanet:78 MONDO:0005674 bone giant cell tumor oio:hasExactSynonym oio:hasRelatedSynonym osteoclastoma osteoclastoma Osteoclastoma Orphanet:363976 Giant cell tumor of bone DOID:4305 osteoclastoma Orphanet:363976 MONDO:0005774 glanders oio:hasExactSynonym oio:hasRelatedSynonym Burkholderia mallei infection Orphanet:659908 Glanders GARD:0009536 Burkholderia mallei infection Orphanet:659908 MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of pancreas neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of pancreas Orphanet:506052 Neuroendocrine neoplasm of pancreas Orphanet:506052 neuroendocrine neoplasm of pancreas Orphanet:506052 -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Orphanet:443909 Hereditary nonpolyposis colon cancer DOID:3883 hereditary nonpolyposis colorectal cancer Orphanet:443909 MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine carcinoma of pancreas neuroendocrine carcinoma of pancreas Neuroendocrine carcinoma of pancreas Orphanet:506098 Neuroendocrine carcinoma of pancreas Orphanet:506098 neuroendocrine carcinoma of pancreas Orphanet:506098 MONDO:0006037 hydrolethalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrolethalus hydrolethalus Hydrolethalus Orphanet:2189 Hydrolethalus Orphanet:2189 hydrolethalus Orphanet:2189 MONDO:0006045 ovarian clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the ovary clear cell adenocarcinoma of the ovary Clear cell adenocarcinoma of the ovary Orphanet:398971 Clear cell adenocarcinoma of the ovary Orphanet:398971 clear cell adenocarcinoma of the ovary Orphanet:398971 @@ -21501,40 +19294,27 @@ MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-derm MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I familial hyperaldosteronism type I Familial hyperaldosteronism type I Orphanet:403 Familial hyperaldosteronism type I Orphanet:403 familial hyperaldosteronism type I Orphanet:403 MONDO:0007095 ameloonychohypohidrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym amelo-onycho-hypohidrotic syndrome amelo-onycho-hypohidrotic syndrome Amelo-onycho-hypohidrotic syndrome Orphanet:1028 Amelo-onycho-hypohidrotic syndrome ISBN-13:978-88-470-0687-4 amelo-onycho-hypohidrotic syndrome Orphanet:1028 MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis Orphanet:85448 AGel amyloidosis Orphanet:85448 AGel amyloidosis Orphanet:85448 -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy cerebral amyloid angiopathy Cerebral Amyloid Angiopathy Orphanet:85458 Cerebral Amyloid Angiopathy OMIM:105150, OMIM:genemap2 cerebral amyloid angiopathy Orphanet:85458 -MONDO:0007101 familial primary localized cutaneous amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary localized cutaneous amyloidosis primary localized cutaneous amyloidosis Primary localized cutaneous amyloidosis Orphanet:137807 Primary cutaneous amyloidosis GARD:0000132 primary localized cutaneous amyloidosis Orphanet:137807 MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym oio:hasRelatedSynonym hereditary neurocutaneous malformation hereditary neurocutaneous malformation Hereditary neurocutaneous malformation Orphanet:1062 Hereditary neurocutaneous malformation Orphanet:1062 hereditary neurocutaneous malformation Orphanet:1062 MONDO:0007118 isolated anhidrosis with normal sweat glands oio:hasExactSynonym oio:hasRelatedSynonym isolated generalized anhidrosis with normal sweat glands isolated generalized anhidrosis with normal sweat glands Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 isolated generalized anhidrosis with normal sweat glands Orphanet:468666 MONDO:0007127 diffuse idiopathic skeletal hyperostosis oio:hasExactSynonym oio:hasRelatedSynonym ankylosing vertebral hyperostosis with tylosis ankylosing vertebral hyperostosis with tylosis Ankylosing vertebral hyperostosis with tylosis Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis OMIM:106400 ankylosing vertebral hyperostosis with tylosis Orphanet:2206 -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome DOID:4297 scimitar syndrome Orphanet:185 MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome Renal-ear-anal-radial syndrome Orphanet:857 Townes-Brocks syndrome OMIM:107480 renal-Ear-anal-radial syndrome Orphanet:857 -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC Orphanet:1501 Adrenocortical carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 ACC Orphanet:1501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 -MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym APCA Orphanet:624244 Postinfectious cerebellitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009602 APCA Orphanet:624244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym familial paroxysmal ataxia familial paroxysmal ataxia Familial paroxysmal ataxia Orphanet:97 Familial paroxysmal ataxia Orphanet:97 familial paroxysmal ataxia Orphanet:97 MONDO:0007164 spastic ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic ataxia type 1 autosomal dominant spastic ataxia type 1 Autosomal dominant spastic ataxia type 1 Orphanet:251282 Autosomal dominant spastic ataxia type 1 Orphanet:251282 autosomal dominant spastic ataxia type 1 Orphanet:251282 MONDO:0007165 spastic ataxia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic ataxia with congenital miosis spastic ataxia with congenital miosis Spastic ataxia with congenital miosis Orphanet:1182 Spastic ataxia with congenital miosis OMIM:108650 spastic ataxia with congenital miosis Orphanet:1182 MONDO:0007168 atelosteogenesis type III oio:hasExactSynonym oio:hasRelatedSynonym AOIII Aoiii AOIII Orphanet:56305 Atelosteogenesis type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108721 AOIII Orphanet:56305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy Orphanet:86813 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 SVEINSSON chorioretinal atrophy Orphanet:86813 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasExactSynonym oio:hasRelatedSynonym BPES type 1 Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 GARD:0000023 BPES type 1 Orphanet:572354 MONDO:0007209 Weismann-Netter syndrome oio:hasExactSynonym oio:hasRelatedSynonym Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose diaphysaire tibio-peroniere Orphanet:3344 Weismann-Netter syndrome OMIM:112350 Toxopachyosteose Diaphysaire Tibio-Peroniere Orphanet:3344 MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome Orphanet:93382 Brachydactyly type A6 OMIM:112910 OSEBOLD-Remondini syndrome Orphanet:93382 -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma Orphanet:449 Hepatoblastoma OMIM:114550 hepatoblastoma Orphanet:449 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte adhesion deficiency Orphanet:2968 Leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 leukocyte adhesion deficiency Orphanet:2968 -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD lad LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:116920 LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome Orphanet:1393 Cerebrocostomandibular syndrome OMIM:117650 CEREBROCOSTOMANDIBULAR syndrome Orphanet:1393 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2A1 autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 MONDO:0007315 cherubism oio:hasExactSynonym oio:hasRelatedSynonym CRBM Crbm CRBM Orphanet:184 Cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118400 CRBM Orphanet:184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym congenital pseudoarthrosis of the clavicle congenital pseudoarthrosis of the clavicle Congenital pseudoarthrosis of the clavicle Orphanet:66630 Congenital pseudoarthrosis of the clavicle Orphanet:66630 congenital pseudoarthrosis of the clavicle Orphanet:66630 MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasBroadSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome Orphanet:1300 facio-genito-popliteal syndrome Orphanet:1300 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome Orphanet:294963 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 popliteal pterygium syndrome Orphanet:294963 MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome Orphanet:2016 Cleft palate-lateral synechia syndrome OMIM:119550 Cpls syndrome Orphanet:2016 MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Orphanet:1997 Blepharo-cheilo-odontic syndrome OMIM:119580, GARD:0002071 Elschnig syndrome Orphanet:1997 -MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym morning glory Disc anomaly morning glory Disc anomaly Morning glory disc anomaly Orphanet:35737 Morning glory disc anomaly OMIM:120430 morning glory Disc anomaly Orphanet:35737 MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc Orphanet:98947 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 coloboma of optic disc Orphanet:98947 MONDO:0007368 familial benign copper deficiency oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypocupremia familial benign hypocupremia Familial benign hypocupremia Orphanet:1551 Familial benign copper deficiency GARD:0001522 familial benign hypocupremia Orphanet:1551 -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Orphanet:659672 Harderoporphyria OMIM:121300 Harderoporphyria Orphanet:659672 -MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CFD Cfd CFD Orphanet:1987 Isolated femoral agenesis/hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:121850 CFD Orphanet:1987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym CORNEODERMATOOSSEOUS syndrome CORNEODERMATOOSSEOUS syndrome Corneodermatoosseous syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 CORNEODERMATOOSSEOUS syndrome Orphanet:3194 MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cdo syndrome Cdo syndrome CDO syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 Cdo syndrome Orphanet:3194 MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym monosomy 5p monosomy 5p Monosomy 5p Orphanet:281 Monosomy 5p Orphanet:281 monosomy 5p Orphanet:281 @@ -21543,14 +19323,9 @@ MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym oio:hasR MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ddod syndrome Ddod syndrome DDOD syndrome Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome OMIM:124480 Ddod syndrome Orphanet:79499 MONDO:0007435 dentatorubral-pallidoluysian atrophy oio:hasExactSynonym oio:hasRelatedSynonym dentatorubral pallidoluysian atrophy dentatorubral pallidoluysian atrophy Dentatorubral pallidoluysian atrophy Orphanet:101 Dentatorubral pallidoluysian atrophy Orphanet:101 dentatorubral pallidoluysian atrophy Orphanet:101 MONDO:0007437 dentin dysplasia type II oio:hasExactSynonym oio:hasRelatedSynonym DTDP2 Dtdp2 DTDP2 Orphanet:99791 Dentin dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125420 DTDP2 Orphanet:99791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta dentinogenesis imperfecta without osteogenesis imperfecta Dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym opalescent teeth without osteogenesis imperfecta opalescent teeth without osteogenesis imperfecta Opalescent teeth without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 opalescent teeth without osteogenesis imperfecta Orphanet:49042 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym Cayler cardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:125520 Cayler cardiofacial syndrome Orphanet:567 MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DERMOODONTODYSPLASIA DERMOODONTODYSPLASIA Dermoodontodysplasia Orphanet:1660 Dermoodontodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125640 DERMOODONTODYSPLASIA Orphanet:1660 -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic diabetes insipidus Orphanet:178029 Arginine vasopressin deficiency NCIT:C84933 neurogenic diabetes insipidus Orphanet:178029 MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial drusen familial drusen Familial drusen Orphanet:75376 Familial drusen Orphanet:75376 familial drusen Orphanet:75376 MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome Orphanet:2616 3M syndrome MESH:C535314 3M syndrome Orphanet:2616 -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Orphanet:2333 Kenny-Caffey syndrome OMIM:127000 Kenny syndrome Orphanet:2333 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset Primary dystonia Early-onset Primary dystonia Early-onset primary dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 Early-onset Primary dystonia Orphanet:256 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 Early-onset torsion dystonia Orphanet:256 MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia Orphanet:256 idiopathic torsion dystonia Orphanet:256 @@ -21564,72 +19339,47 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasia Ehlers-Danlos syndrome arthrochalasia Ehlers-Danlos syndrome Arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084 arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita arthrochalasis multiplex congenita Arthrochalasis multiplex congenita Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084, MESH:C562625, OMIM:130060 arthrochalasis multiplex congenita Orphanet:1899 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym AEDS AEDS aEDS Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002084 AEDS Orphanet:1899 -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplastic Ehlers-Danlos syndrome spondylodysplastic Ehlers-Danlos syndrome Spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome GARD:0009991 spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym pEDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 pEDS Orphanet:75392 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal EDS periodontal EDS Periodontal EDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 periodontal EDS Orphanet:75392 MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal Ehlers-Danlos syndrome periodontal Ehlers-Danlos syndrome Periodontal Ehlers-Danlos syndrome Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 periodontal Ehlers-Danlos syndrome Orphanet:75392 -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007542 Camurati-Engelmann disease oio:hasExactSynonym oio:hasRelatedSynonym CED Orphanet:1515 Cranioectodermal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131300 CED Orphanet:1515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form MONDO:Lexical, OMIM:131760 epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBS with mottled pigmentation Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation GARD:0009737 EBS with mottled pigmentation Orphanet:79397 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym oio:hasRelatedSynonym primary familial polycythemia primary familial polycythemia Primary familial polycythemia Orphanet:90042 Primary familial polycythemia Orphanet:90042 primary familial polycythemia Orphanet:90042 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Orphanet:1929 Rasmussen subacute encephalitis OMIM:133705 Rasmussen syndrome Orphanet:1929 MONDO:0007590 hemifacial hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia hemifacial hyperplasia Hemifacial hyperplasia Orphanet:141145 Hemifacial hyperplasia OMIM:133900 hemifacial hyperplasia Orphanet:141145 MONDO:0007600 primary Fanconi syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary Fanconi renotubular syndrome primary Fanconi renotubular syndrome Primary Fanconi renotubular syndrome Orphanet:3337 Primary Fanconi renotubular syndrome Orphanet:3337 primary Fanconi renotubular syndrome Orphanet:3337 MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva Orphanet:337 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 myositis ossificans progressiva Orphanet:337 MONDO:0007620 fish eye disease oio:hasExactSynonym oio:hasRelatedSynonym fish-eye disease fish-eye disease Fish-eye disease Orphanet:79292 Fish-eye disease OMIM:136120 fish-eye disease Orphanet:79292 -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia Orphanet:250 Frontonasal dysplasia OMIM:136760 frontonasal dysplasia Orphanet:250 -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens Orphanet:52427 Retinitis punctata albescens DOID:11105, OMIM:136880 retinitis punctata albescens Orphanet:52427 MONDO:0007640 Sorsby fundus dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 MONDO:0007646 Gamstorp-Wohlfart syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal neuropathy with neuromyotonia autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym oio:hasRelatedSynonym GSD Orphanet:79201 Glycogen storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137440, MONDO:Lexical GSD Orphanet:79201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 maturity-onset diabetes of the young type 5 Maturity-onset diabetes of the young type 5 Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease DOID:0111101 maturity-onset diabetes of the young type 5 Orphanet:93111 MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis Orphanet:83454 Glomuvenous malformation Orphanet:83454 glomangiomatosis Orphanet:83454 MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre syndrome Orphanet:2588 Myhre syndrome OMIM:139210 MYHRE syndrome Orphanet:2588 MONDO:0007693 hypertrichosis cubiti-short stature syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis cubiti hypertrichosis cubiti Hypertrichosis cubiti Orphanet:2220 Hypertrichosis cubiti OMIM:139600, GARD:0000143 hypertrichosis cubiti Orphanet:2220 MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA Orphanet:1214 Progressive hemifacial atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 PHA Orphanet:1214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm Orphanet:221083 Hemifacial spasm Orphanet:221083 hemifacial spasm Orphanet:221083 -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym atriodigital dysplasia atriodigital dysplasia Atriodigital dysplasia Orphanet:228184 Heart-hand syndrome OMIM:142900, DOID:0060468 atriodigital dysplasia Orphanet:228184 -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym heart-hand syndrome heart-hand syndrome Heart-hand syndrome Orphanet:228184 Heart-hand syndrome DOID:0060468, OMIM:142900 heart-hand syndrome Orphanet:228184 -MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasBroadSynonym hyperalphalipoproteinemia hyperalphalipoproteinemia Hyperalphalipoproteinemia Orphanet:181428 Hyperalphalipoproteinemia OMIM:143470, OMIM:genemap2 hyperalphalipoproteinemia Orphanet:181428 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym diffuse erythrodermic palmoplantar keratoderma, Vörner type diffuse erythrodermic palmoplantar keratoderma, Vörner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym epidermolytic palmoplantar keratoderma of Vörner epidermolytic palmoplantar keratoderma of Vörner Epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 -MONDO:0007772 pseudohypoaldosteronism type 2A oio:hasExactSynonym oio:hasRelatedSynonym Gordon hyperkalemia-hypertension syndrome Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:145260 Gordon hyperkalemia-hypertension syndrome Orphanet:757 MONDO:0007787 Ambras type hypertrichosis universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized hypertrichosis, Ambras type congenital generalized hypertrichosis, Ambras type Congenital generalized hypertrichosis, Ambras type Orphanet:1023 Congenital generalized hypertrichosis, Ambras type Orphanet:1023 congenital generalized hypertrichosis, Ambras type Orphanet:1023 MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis exfoliativa ichthyosis exfoliativa Ichthyosis exfoliativa Orphanet:289586 Exfoliative ichthyosis OMIM:146800 ichthyosis exfoliativa Orphanet:289586 MONDO:0007827 inclusion body myositis oio:hasExactSynonym oio:hasRelatedSynonym IBM Ibm IBM Orphanet:611 Inclusion body myositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147421 IBM Orphanet:611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 IVIC syndrome OMIM:147750 radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome chromosome 11q deletion syndrome Chromosome 11q deletion syndrome Orphanet:2308 Jacobsen syndrome OMIM:147791 chromosome 11q deletion syndrome Orphanet:2308 -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS Orphanet:2315 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical JBS Orphanet:2315 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym KERATOENDOTHELIITIS fugax hereditaria KERATOENDOTHELIITIS fugax hereditaria Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 KERATOENDOTHELIITIS fugax hereditaria Orphanet:647815 MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 Keratoendotheliitis fugax hereditaria Orphanet:647815 MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema Orphanet:50943 Keratolytic winter erythema OMIM:148370 keratolytic WINTER erythema Orphanet:50943 MONDO:0007866 Bart-Pumphrey syndrome oio:hasExactSynonym oio:hasRelatedSynonym knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 -MONDO:0007871 familial congenital nasolacrimal duct obstruction oio:hasExactSynonym oio:hasRelatedSynonym LCDD Orphanet:93558 Light chain deposition disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:149700 LCDD Orphanet:93558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:hasRelatedSynonym Moynahan syndrome Orphanet:2574 Moynahan syndrome DOID:14291 Moynahan syndrome Orphanet:2574 MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym acute monoblastic/monocytic leukemia acute monoblastic/monocytic leukemia Acute monoblastic/monocytic leukemia Orphanet:514 Acute monoblastic/monocytic leukemia ONCOTREE:AMOL acute monoblastic/monocytic leukemia Orphanet:514 MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Orphanet:2398 Multiple symmetric lipomatosis Orphanet:2398 Madelung disease Orphanet:2398 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-lymphedema-chorioretinopathy syndrome microcephaly-lymphedema-chorioretinopathy syndrome Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 MONDO:0007921 yellow nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym YNS Yns YNS Orphanet:662 Yellow nail syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:153300 YNS Orphanet:662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia Orphanet:156207 Macroglossia OMIM:153630 macroglossia Orphanet:156207 MONDO:0007935 cystoid macular edema oio:hasExactSynonym oio:hasRelatedSynonym cystoid macular dystrophy cystoid macular dystrophy Cystoid macular dystrophy Orphanet:75381 Cystoid macular dystrophy OMIM:153880 cystoid macular dystrophy Orphanet:75381 MONDO:0007937 renal hypomagnesemia 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant primary hypomagnesemia with hypocalciuria autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria DOID:0060885 autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa Orphanet:79457 Maculopapular cutaneous mastocytosis OMIM:154800 urticaria pigmentosa Orphanet:79457 MONDO:0007953 Binder syndrome oio:hasExactSynonym oio:hasRelatedSynonym maxillonasal dysplasia maxillonasal dysplasia Maxillonasal dysplasia Orphanet:1248 Maxillonasal dysplasia Orphanet:1248 maxillonasal dysplasia Orphanet:1248 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma medullary thyroid carcinoma Medullary thyroid carcinoma Orphanet:1332 Medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 medullary thyroid carcinoma Orphanet:1332 -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MTC Orphanet:1332 Medullary thyroid carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155240, MONDO:Lexical MTC Orphanet:1332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity Orphanet:251858 Medulloblastoma with extensive nodularity OMIM:155255 medulloblastoma with extensive nodularity Orphanet:251858 -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor NCIT:C5398, DOID:0050902 CNS PNET Orphanet:251870 MONDO:0007977 mesomelic dysplasia, Kantaputra type oio:hasExactSynonym oio:hasRelatedSynonym MDK Mdk MDK Orphanet:1836 Mesomelic dysplasia, Kantaputra type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156232 MDK Orphanet:1836 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis Orphanet:2499 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 METACHONDROMATOSIS Orphanet:2499 MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis Orphanet:1077 Dental ankylosis OMIM:157950 dental ankylosis Orphanet:1077 MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia and hyperandrogenism Orphanet:247768 Müllerian aplasia and hyperandrogenism Orphanet:247768 Müllerian aplasia and hyperandrogenism Orphanet:247768 -MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Isaacs-Mertens syndrome Orphanet:84142 Isaacs syndrome OMIM:160120, https://www.ncbi.nlm.nih.gov/books/NBK25442/ Isaacs-Mertens syndrome Orphanet:84142 -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy myosin storage myopathy Myosin storage myopathy Orphanet:53698 Myosin storage myopathy PMID:24664454, PMID:22918376 myosin storage myopathy Orphanet:53698 MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym Steinert myotonic dystrophy Orphanet:273 Steinert myotonic dystrophy Orphanet:273 Steinert myotonic dystrophy Orphanet:273 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI syndrome Orphanet:69087 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 NAEGELI-Franceschetti-Jadassohn syndrome Orphanet:69087 @@ -21638,16 +19388,9 @@ MONDO:0008060 nonsyndromic congenital nail disorder 1 oio:hasExactSynonym oio:ha MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym MCKD2 Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:603860 MCKD2 Orphanet:88950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic neutropenia Orphanet:2686 Cyclic neutropenia OMIM:162800 cyclic neutropenia Orphanet:2686 -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym oio:hasRelatedSynonym CMC Orphanet:1334 Chronic mucocutaneous candidiasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:163000, MONDO:Lexical CMC Orphanet:1334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym epidermal nevus syndrome epidermal nevus syndrome Epidermal nevus syndrome Orphanet:35125 Epidermal nevus syndrome OMIM:163200 epidermal nevus syndrome Orphanet:35125 MONDO:0008098 mesomelic dwarfism, Nievergelt type oio:hasExactSynonym oio:hasRelatedSynonym mesomelic dysplasia, Nievergelt type mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Nievergelt type Orphanet:2633 Mesomelic dysplasia, Nievergelt type OMIM:163400 mesomelic dysplasia, Nievergelt type Orphanet:2633 -MONDO:0008101 familial supernumerary nipples oio:hasExactSynonym oio:hasRelatedSynonym polymastia polymastia Polymastia Orphanet:180182 Supernumerary breasts OMIM:163700 polymastia Orphanet:180182 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome Orphanet:1305 Feingold syndrome OMIM:164280 Feingold syndrome Orphanet:1305 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Oded syndrome Oded syndrome ODED syndrome Orphanet:1305 Feingold syndrome OMIM:164280 Oded syndrome Orphanet:1305 -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 Feingold syndrome OMIM:164280 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 MONDO:0008150 osteoglophonic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Osteoglosphonic dysplasia Orphanet:2645 Osteoglosphonic dysplasia Orphanet:2645 Osteoglosphonic dysplasia Orphanet:2645 MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia Orphanet:53697 Gnathodiaphyseal dysplasia OMIM:166260 GNATHODIAPHYSEAL dysplasia Orphanet:53697 -MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootodental syndrome oculootodental syndrome Oculootodental syndrome Orphanet:99806 Oculootodental syndrome OMIM:166750 oculootodental syndrome Orphanet:99806 MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis Orphanet:98868 hereditary ovalocytosis Orphanet:98868 MONDO:0008182 nasopalpebral lipoma-coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym NASOPALPEBRAL lipoma-coloboma syndrome NASOPALPEBRAL lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma syndrome Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome OMIM:167730 NASOPALPEBRAL lipoma-coloboma syndrome Orphanet:2399 MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia congenita of Von Eulenburg Orphanet:684 Paramyotonia congenita of Von Eulenburg OMIM:168300 paramyotonia congenita of VON Eulenburg Orphanet:684 @@ -21655,24 +19398,14 @@ MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome Orphanet:46627 Char syndrome OMIM:169100 CHAR syndrome Orphanet:46627 MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Orphanet:46627 Char syndrome OMIM:169100 patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Orphanet:46627 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type oio:hasExactSynonym oio:hasRelatedSynonym Patterson pseudoleprechaunism syndrome Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type OMIM:169170 Patterson pseudoleprechaunism syndrome Orphanet:2976 -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroadSynonym pityriasis rubra pilaris pityriasis rubra pilaris Pityriasis rubra pilaris Orphanet:2897 Pityriasis rubra pilaris MONDO:Lexical, OMIM:173200 pityriasis rubra pilaris Orphanet:2897 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome Orphanet:2908 Kindler epidermolysis bullosa OMIM:173650 KINDLER syndrome Orphanet:2908 MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous poikiloderma congenital bullous poikiloderma Congenital bullous poikiloderma Orphanet:2908 Kindler epidermolysis bullosa GARD:0004391 congenital bullous poikiloderma Orphanet:2908 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant tubulointerstitial kidney disease autosomal dominant tubulointerstitial kidney disease Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 autosomal dominant tubulointerstitial kidney disease Orphanet:34149 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease medullary cystic kidney disease Medullary cystic kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease GARD:0010801 medullary cystic kidney disease Orphanet:34149 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone NCIT:C34609 fibrous dysplasia of bone Orphanet:249 MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease Orphanet:85195 Familial expansile osteolysis OMIM:174810 Mccabe disease Orphanet:85195 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile intestinal polyposis juvenile intestinal polyposis Juvenile intestinal polyposis Orphanet:2929 Juvenile polyposis syndrome OMIM:174900 juvenile intestinal polyposis Orphanet:2929 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome juvenile polyposis syndrome Juvenile polyposis syndrome Orphanet:2929 Juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 juvenile polyposis syndrome Orphanet:2929 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym JPS jPS JPS Orphanet:2929 Juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:174900 JPS Orphanet:2929 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis punctata palmaris Et plantaris porokeratosis punctata palmaris Et plantaris Porokeratosis punctata palmaris et plantaris Orphanet:79502 Punctate palmoplantar keratoderma type 2 OMIM:175860 porokeratosis punctata palmaris Et plantaris Orphanet:79502 -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda Orphanet:101330 Porphyria cutanea tarda OMIM:176100 porphyria cutanea tarda Orphanet:101330 -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176100 PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata Orphanet:79473 Variegate porphyria OMIM:176200 porphyria variegata Orphanet:79473 MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome Orphanet:1552 Currarino syndrome OMIM:176450 CURRARINO syndrome Orphanet:1552 MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria Orphanet:740 Hutchinson-Gilford progeria syndrome OMIM:176670, Orphanet:740 progeria Orphanet:740 @@ -21682,7 +19415,6 @@ MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRe MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 PUPPP Orphanet:64745 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008365 recombinant 8 syndrome oio:hasExactSynonym oio:hasRelatedSynonym RECOMBINANT chromosome 8 syndrome RECOMBINANT chromosome 8 syndrome Recombinant chromosome 8 syndrome Orphanet:96167 Recombinant 8 syndrome OMIM:179613 RECOMBINANT chromosome 8 syndrome Orphanet:96167 MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea Orphanet:91481 Ring dermoid of cornea OMIM:180550 RING dermoid of cornea Orphanet:91481 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym oio:hasRelatedSynonym broad thumb-hallux syndrome broad thumb-hallux syndrome Broad thumb-hallux syndrome Orphanet:783 Rubinstein-Taybi syndrome OMIM:180849 broad thumb-hallux syndrome Orphanet:783 MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic salivary gland adenoma pleomorphic salivary gland adenoma Pleomorphic salivary gland adenoma Orphanet:454821 Pleomorphic salivary gland adenoma Orphanet:454821 pleomorphic salivary gland adenoma Orphanet:454821 MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome Orphanet:2036 Scalp-ear-nipple syndrome OMIM:181270 scalp-EAR-nipple syndrome Orphanet:2036 MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym HURIEZ syndrome HURIEZ syndrome Huriez syndrome Orphanet:384 Huriez syndrome OMIM:181600 HURIEZ syndrome Orphanet:384 @@ -21694,11 +19426,9 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym SMAFK Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182980, MONDO:Lexical SMAFK Orphanet:209335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome SGFLD syndrome Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome OMIM:183300 Sgfld syndrome Orphanet:2063 MONDO:0008471 spondyloepiphyseal dysplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital spondyloepiphyseal dysplasia congenital spondyloepiphyseal dysplasia Congenital spondyloepiphyseal dysplasia Orphanet:94068 Spondyloepiphyseal dysplasia congenita Orphanet:94068, ORCID:0000-0001-8612-1062 congenital spondyloepiphyseal dysplasia Orphanet:94068 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia Orphanet:254 Spondylometaphyseal dysplasia OMIM:184250 spondylometaphyseal dysplasia Orphanet:254 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia congenita, Strudwick type spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex Steatocystoma multiplex Orphanet:841 Sebocystomatosis OMIM:184500 STEATOCYSTOMA multiplex Orphanet:841 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome Steinfeld syndrome Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome OMIM:184705 STEINFELD syndrome Orphanet:3186 -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome Orphanet:2833 Stiff skin syndrome OMIM:184900 STIFF skin syndrome Orphanet:2833 @@ -21706,10 +19436,8 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha delta granule deficiency alpha delta granule deficiency Alpha delta granule deficiency Orphanet:734 Alpha delta granule deficiency Orphanet:734 alpha delta granule deficiency Orphanet:734 MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym STRATTON-PARKER syndrome STRATTON-PARKER syndrome Stratton-Parker syndrome Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome OMIM:185120 STRATTON-PARKER syndrome Orphanet:2863 -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type Orphanet:1527 Craniosynostosis, Philadelphia type OMIM:185900 craniosynostosis, Philadelphia type Orphanet:1527 MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym LIEBENBERG syndrome LIEBENBERG syndrome Liebenberg syndrome Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome OMIM:186550 LIEBENBERG syndrome Orphanet:1275 MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot Orphanet:3303 Tetralogy of Fallot OMIM:187500 tetralogy of FALLOT Orphanet:3303 -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric dysplasia Orphanet:2655 Thanatophoric dysplasia OMIM:187600 thanatophoric dysplasia Orphanet:2655 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia Orphanet:3002 Immune thrombocytopenia Orphanet:3002 immune thrombocytopenia Orphanet:3002 MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura Orphanet:3002 Immune thrombocytopenia OMIM:188030 immune thrombocytopenic purpura Orphanet:3002 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 @@ -21721,15 +19449,10 @@ MONDO:0008619 ulna metaphyseal dysplasia syndrome oio:hasExactSynonym oio:hasRel MONDO:0008620 upper limb mesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ulna hypoplasia ulna hypoplasia Ulna hypoplasia Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns Orphanet:2497 ulna hypoplasia Orphanet:2497 MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome Orphanet:575 Muckle-Wells syndrome OMIM:191900 MUCKLE-Wells syndrome Orphanet:575 MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym CHOREOACANTHOCYTOSIS CHOREOACANTHOCYTOSIS Choreoacanthocytosis Orphanet:2388 Choreoacanthocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:200150 CHOREOACANTHOCYTOSIS Orphanet:2388 -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis neuroacanthocytosis Neuroacanthocytosis Orphanet:263440 Neuroacanthocytosis OMIM:200150 neuroacanthocytosis Orphanet:263440 MONDO:0008701 achondrogenesis type IA oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1A achondrogenesis type 1A Achondrogenesis type 1A Orphanet:93299 Achondrogenesis type 1A Orphanet:93299 achondrogenesis type 1A Orphanet:93299 MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 2 achondrogenesis type 2 Achondrogenesis type 2 Orphanet:93296 Achondrogenesis type 2 Orphanet:93296 achondrogenesis type 2 Orphanet:93296 -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis OMIM:200610 hypochondrogenesis Orphanet:93297 -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis NCIT:C3816 hypochondrogenesis Orphanet:93297 -MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym AE ae AE Orphanet:622014 Autoimmune encephalitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005723 AE Orphanet:622014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis, Rodríguez type acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Rodríguez type Orphanet:1788 Acrofacial dysostosis, Rodríguez type Orphanet:1788 acrofacial dysostosis, Rodríguez type Orphanet:1788 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated ACTH deficiency congenital isolated ACTH deficiency Congenital isolated ACTH deficiency Orphanet:199296 Congenital isolated ACTH deficiency Orphanet:199296 congenital isolated ACTH deficiency Orphanet:199296 -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym IAD Orphanet:480512 Idiopathic ductopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201400 IAD Orphanet:480512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency OMIM:201450 Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Orphanet:42 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acads deficiency Acads deficiency ACADS deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 Acads deficiency Orphanet:26792 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scad deficiency Scad deficiency SCAD deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 Scad deficiency Orphanet:26792 @@ -21745,9 +19468,7 @@ MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRel MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym digital extensor muscle aplasia-polyneuropathy digital extensor muscle aplasia-polyneuropathy Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 digital extensor muscle aplasia-polyneuropathy Orphanet:2926 MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym XK aprosencephaly syndrome Orphanet:3469 XK aprosencephaly syndrome Orphanet:3469 XK aprosencephaly syndrome Orphanet:3469 MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym Xk syndrome Xk syndrome XK syndrome Orphanet:3469 XK aprosencephaly syndrome OMIM:207770 Xk syndrome Orphanet:3469 -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly Orphanet:566852 Atelencephaly Orphanet:3469 atelencephaly Orphanet:566852 MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome Illum syndrome Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome OMIM:208155 ILLUM syndrome Orphanet:1150 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly-arthropathy-coxa-vara-pericarditis syndrome camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome GARD:0000306 camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 MONDO:0008832 right atrial isomerism oio:hasExactSynonym oio:hasRelatedSynonym RAI Orphanet:97548 Right sided atrial isomerism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:208530 RAI Orphanet:97548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -21760,7 +19481,6 @@ MONDO:0008867 biliary atresia oio:hasExactSynonym oio:hasRelatedSynonym isolated MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 Bird-headed dwarfism, Montreal type Orphanet:2617 MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym microcephalic primordial dwarfism, Montreal type microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 microcephalic primordial dwarfism, Montreal type Orphanet:2617 MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease Orphanet:36258 Buerger disease OMIM:211480 BUERGER disease Orphanet:36258 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Orphanet:172 Progressive familial intrahepatic cholestasis GARD:0009802 progressive familial intrahepatic cholestasis Orphanet:172 MONDO:0008896 campomelia, Cumming type oio:hasExactSynonym oio:hasRelatedSynonym Cumming syndrome Orphanet:1318 Campomelia, Cumming type OMIM:211890 Cumming syndrome Orphanet:1318 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 CARNITINE-acylcarnitine translocase deficiency Orphanet:159 MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cact deficiency Cact deficiency CACT deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 Cact deficiency Orphanet:159 @@ -21775,22 +19495,17 @@ MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability s MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital chloride diarrhea congenital chloride diarrhea Congenital chloride diarrhea Orphanet:53689 Congenital chloride diarrhea Orphanet:53689 congenital chloride diarrhea Orphanet:53689 MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-lymphedema syndrome Orphanet:1414 Cholestasis-lymphedema syndrome OMIM:214900 cholestasis-lymphedema syndrome Orphanet:1414 MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency Orphanet:79095 Congenital bile acid synthesis defect type 4 Orphanet:79095 AMACR deficiency Orphanet:79095 -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia Orphanet:187 Citrullinemia OMIM:215700, OMIM:genemap2 citrullinemia Orphanet:187 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym congenital hereditary endothelial dystrophy type II congenital hereditary endothelial dystrophy type II Congenital hereditary endothelial dystrophy type II Orphanet:293603 Congenital hereditary endothelial dystrophy type II Orphanet:293603 congenital hereditary endothelial dystrophy type II Orphanet:293603 MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess Orphanet:320 Apparent mineralocorticoid excess OMIM:218030 apparent mineralocorticoid EXCESS Orphanet:320 -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD Orphanet:505652 CDKL5-deficiency disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 CDD Orphanet:505652 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome Orphanet:1777 Temtamy syndrome OMIM:218340 TEMTAMY syndrome Orphanet:1777 MONDO:0009034 craniofacial dyssynostosis oio:hasExactSynonym oio:hasRelatedSynonym bilateral lambdoid and sagittal synostosis bilateral lambdoid and sagittal synostosis Bilateral lambdoid and sagittal synostosis Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis OMIM:218350 bilateral lambdoid and sagittal synostosis Orphanet:1516 MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome Orphanet:1225 Baller-Gerold syndrome OMIM:218600 BALLER-Gerold syndrome Orphanet:1225 MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Orphanet:96253 Cushing disease GARD:0012867 Cushing disease Orphanet:96253 MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasBroadSynonym P5CS deficiency Orphanet:35664 ALDH18A1-related De Barsy syndrome Orphanet:35664 P5CS deficiency Orphanet:35664 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A Orphanet:357058 Autosomal recessive cutis laxa type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical ARCL2A Orphanet:357058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2 Arcl2 ARCL2 Orphanet:90350 Autosomal recessive cutis laxa type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200 ARCL2 Orphanet:90350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency Orphanet:254905 Isolated cytochrome C oxidase deficiency Orphanet:254905 isolated cytochrome C oxidase deficiency Orphanet:254905 MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Dandy-Walker malformation isolated Dandy-Walker malformation Isolated Dandy-Walker malformation Orphanet:217 Isolated Dandy-Walker malformation Orphanet:217 isolated Dandy-Walker malformation Orphanet:217 MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym split hand-split foot-deafness syndrome split hand-split foot-deafness syndrome Split hand-split foot-deafness syndrome Orphanet:71271 Split hand-split foot-deafness syndrome Orphanet:71271 split hand-split foot-deafness syndrome Orphanet:71271 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 -MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD Orphanet:1653 Dentin dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 DD Orphanet:1653 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym diastrophic dwarfism diastrophic dwarfism Diastrophic dwarfism Orphanet:628 Diastrophic dysplasia Orphanet:628 diastrophic dwarfism Orphanet:628 MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance Lysinuric protein intolerance Orphanet:470 Lysinuric protein intolerance OMIM:222700 lysinuric PROTEIN intolerance Orphanet:470 MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect Glutamate-aspartate transport defect Orphanet:2195 Dicarboxylic aminoaciduria OMIM:222730 glutamate-aspartate Transport defect Orphanet:2195 @@ -21814,10 +19529,7 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6B Orphanet:90354 Brittle cornea syndrome Ehlers-Danlos syndrome type 6b Orphanet:90354 MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK deficiency Orphanet:79237 Galactokinase deficiency OMIM:230200 Galk deficiency Orphanet:79237 MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency Orphanet:79238 Galactose epimerase deficiency OMIM:230350 Gale deficiency Orphanet:79238 -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia OMIM:230400 galactosemia Orphanet:352 MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency Orphanet:79239 Classic galactosemia OMIM:230400 Galt deficiency Orphanet:79239 -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 Beta-galactosidase-1 deficiency Orphanet:354 -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency GLB1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 Glb1 deficiency Orphanet:354 MONDO:0009265 Gaucher disease type I oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 1 Orphanet:77259 Gaucher disease type 1 Orphanet:77259 Gaucher disease type 1 Orphanet:77259 MONDO:0009266 Gaucher disease type II oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 2 Orphanet:77260 Gaucher disease type 2 Orphanet:77260 Gaucher disease type 2 Orphanet:77260 MONDO:0009267 Gaucher disease type III oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 3 Orphanet:77261 Gaucher disease type 3 Orphanet:77261 Gaucher disease type 3 Orphanet:77261 @@ -21825,10 +19537,7 @@ MONDO:0009270 genito-palato-cardiac syndrome oio:hasExactSynonym oio:hasRelatedS MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia Orphanet:1802 Ghosal hematodiaphyseal dysplasia OMIM:231095 GHOSAL hematodiaphyseal dysplasia Orphanet:1802 MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos buphthalmos Buphthalmos Orphanet:98976 Congenital glaucoma DOID:11211, OMIM:231300 buphthalmos Orphanet:98976 MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym triple A syndrome triple A syndrome Triple A syndrome Orphanet:869 Triple A syndrome GARD:0000457 triple A syndrome Orphanet:869 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006523 EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym glutaryl-Coa oxidase deficiency glutaryl-Coa oxidase deficiency Glutaryl-CoA oxidase deficiency Orphanet:35706 Glutaric acidemia type 3 OMIM:231690 glutaryl-Coa oxidase deficiency Orphanet:35706 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 Von Gierke disease Orphanet:364 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis hepatorenal glycogenosis Hepatorenal glycogenosis Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 hepatorenal glycogenosis Orphanet:364 MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to acid maltase deficiency glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency Orphanet:365 Glycogen storage disease due to acid maltase deficiency Orphanet:365 glycogen storage disease due to acid maltase deficiency Orphanet:365 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym Gde deficiency Gde deficiency GDE deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency OMIM:232400 Gde deficiency Orphanet:366 MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to glycogen debranching enzyme deficiency glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 @@ -21853,52 +19562,35 @@ MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease Van Buchem disease Orphanet:3416 Hyperostosis corticalis generalisata OMIM:239100 VAN Buchem disease Orphanet:3416 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type oio:hasExactSynonym oio:hasRelatedSynonym hypertrichotic osteochondrodysplasia hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia Orphanet:1517 Cantú syndrome GARD:0008585, OMIM:239850 hypertrichotic osteochondrodysplasia Orphanet:1517 MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym autoimmune polyendocrinopathy type 1 autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Orphanet:3453 Autoimmune polyendocrinopathy type 1 Orphanet:3453 autoimmune polyendocrinopathy type 1 Orphanet:3453 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:243000, MONDO:Lexical CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia OMIM:243150, Orphanet:2300 familial intestinal polyatresia syndrome Orphanet:2300 -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 CID-MIA/early-onset IBD Orphanet:436252 -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 combined immunodeficiency-enteropathy spectrum Orphanet:436252 MONDO:0009473 isotretinoin-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym microtia-aortic Arch syndrome microtia-aortic Arch syndrome Microtia-aortic arch syndrome Orphanet:2306 Isotretinoin-like syndrome OMIM:243440 microtia-aortic Arch syndrome Orphanet:2306 MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency Isovaleric acid CoA dehydrogenase deficiency Orphanet:33 Isovaleric acidemia OMIM:243500 isovaleric acid Coa dehydrogenase deficiency Orphanet:33 MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome Orphanet:2315 Johanson-Blizzard syndrome OMIM:243800 Johanson-BLIZZARD syndrome Orphanet:2315 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym Papillon-LEFèvre syndrome Papillon-LEFèvre syndrome Papillon-Lefèvre syndrome Orphanet:678 Papillon-Lefèvre syndrome Orphanet:678 Papillon-LEFèvre syndrome Orphanet:678 MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym oio:hasRelatedSynonym HAIM-Munk syndrome HAIM-Munk syndrome Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome OMIM:245010 HAIM-Munk syndrome Orphanet:2342 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scot deficiency Scot deficiency SCOT deficiency Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency OMIM:245050 Scot deficiency Orphanet:832 -MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym ataxia-deafness-intellectual disability syndrome ataxia-deafness-intellectual disability syndrome Ataxia-deafness-intellectual disability syndrome Orphanet:1188 Ataxia-deafness-intellectual disability syndrome OMIM:245100 ataxia-deafness-intellectual disability syndrome Orphanet:1188 MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym RICHARDS-RUNDLE syndrome RICHARDS-RUNDLE syndrome Richards-Rundle syndrome Orphanet:1399 Richards-Rundle syndrome OMIM:245100 RICHARDS-RUNDLE syndrome Orphanet:1399 MONDO:0009495 Keutel syndrome oio:hasExactSynonym oio:hasRelatedSynonym KEUTEL syndrome KEUTEL syndrome Keutel syndrome Orphanet:85202 Keutel syndrome OMIM:245150 KEUTEL syndrome Orphanet:85202 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E3-binding PROTEIN deficiency pyruvate dehydrogenase E3-binding PROTEIN deficiency Pyruvate dehydrogenase E3-binding protein deficiency Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency OMIM:245349 pyruvate dehydrogenase E3-binding PROTEIN deficiency Orphanet:255182 MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile lactic acidosis with methylmalonic aciduria fatal infantile lactic acidosis with methylmalonic aciduria Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes benign epilepsy of childhood with centrotemporal spikes Benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 Rolandic epilepsy OMIM:245570 benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome OMIM:245800 Laurence-MOON syndrome Orphanet:2377 -MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym LCAT deficiency Orphanet:650 LCAT deficiency OMIM:245900 LCAT deficiency Orphanet:650 MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym familial LCAT deficiency familial LCAT deficiency Familial LCAT deficiency Orphanet:79293 Familial LCAT deficiency Orphanet:79293 familial LCAT deficiency Orphanet:79293 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency Orphanet:20 3-hydroxy-3-methylglutaric aciduria OMIM:246450 HMG-Coa lyase deficiency Orphanet:20 MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym distal limb deficiencies-micrognathia syndrome distal limb deficiencies-micrognathia syndrome Distal limb deficiencies-micrognathia syndrome Orphanet:1307 Distal limb deficiencies-micrognathia syndrome Orphanet:1307 distal limb deficiencies-micrognathia syndrome Orphanet:1307 MONDO:0009529 pyruvate dehydrogenase E3 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dld deficiency Dld deficiency DLD deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency OMIM:246900 Dld deficiency Orphanet:2394 MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae Orphanet:530 Lipoid proteinosis OMIM:247100 hyalinosis cutis Et mucosae Orphanet:530 -MONDO:0009549 severe early-childhood-onset retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym fundus flavimaculatus fundus flavimaculatus Fundus flavimaculatus Orphanet:827 Stargardt disease OMIM:248200 fundus flavimaculatus Orphanet:827 MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda Orphanet:87503 Mal de Meleda OMIM:248300 MAL DE Meleda Orphanet:87503 MONDO:0009556 malonic aciduria oio:hasExactSynonym oio:hasRelatedSynonym malonic acidemia malonic acidemia Malonic acidemia Orphanet:943 Malonic aciduria GARD:0003371 malonic acidemia Orphanet:943 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia Orphanet:2457 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 mandibuloacral dysplasia Orphanet:2457 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 MANDIBULOACRAL dysplasia with type A lipodystrophy Orphanet:90153 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MADA Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248370, MONDO:Lexical MADA Orphanet:90153 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009560 oculotrichoanal syndrome oio:hasExactSynonym oio:hasRelatedSynonym MANITOBA oculotrichoanal syndrome MANITOBA oculotrichoanal syndrome Manitoba oculotrichoanal syndrome Orphanet:2717 Oculotrichoanal syndrome MONDO:Lexical, OMIM:248450 MANITOBA oculotrichoanal syndrome Orphanet:2717 MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency Orphanet:61 Alpha-mannosidosis OMIM:248500 lysosomal Alpha-D-mannosidase deficiency Orphanet:61 -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency DOID:9269, OMIM:246900 dihydrolipoamide dehydrogenase deficiency Orphanet:2394 MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome Marden-Walker syndrome Orphanet:2461 Marden-Walker syndrome OMIM:248700 MARDEN-WALKER syndrome Orphanet:2461 MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marinesco-Sjögren syndrome Orphanet:559 Marinesco-Sjögren syndrome Orphanet:559 Marinesco-Sjögren syndrome Orphanet:559 MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym oio:hasRelatedSynonym FRANK-TER Haar syndrome FRANK-TER Haar syndrome Frank-Ter Haar syndrome Orphanet:137834 Frank-Ter Haar syndrome OMIM:249420 FRANK-TER Haar syndrome Orphanet:137834 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria Orphanet:1035, GARD:0000654 Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym MCDU Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:249650 MCDU Orphanet:1035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym arylsulfatase A deficiency arylsulfatase A deficiency Arylsulfatase A deficiency Orphanet:512 Metachromatic leukodystrophy GARD:0003230, OMIM:250100 arylsulfatase A deficiency Orphanet:512 -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym metachromatic leukodystrophy metachromatic leukodystrophy Metachromatic leukodystrophy Orphanet:512 Metachromatic leukodystrophy OMIM:250100 metachromatic leukodystrophy Orphanet:512 -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Mld MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:250100 MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003230, OMIM:250100 MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009595 cartilage-hair hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia, Mckusick type metaphyseal chondrodysplasia, Mckusick type Metaphyseal chondrodysplasia, McKusick type Orphanet:175 Cartilage-hair hypoplasia OMIM:250250 metaphyseal chondrodysplasia, Mckusick type Orphanet:175 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly-short stature-retinitis pigmentosa syndrome brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym valine metabolic defect valine metabolic defect Valine metabolic defect Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620, Orphanet:88639 valine metabolic defect Orphanet:88639 @@ -21913,10 +19605,8 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym oio:hasRelatedSynonym co MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 MONDO:0009642 orofaciodigital syndrome type II oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 2 orofaciodigital syndrome type 2 Orofaciodigital syndrome type 2 Orphanet:2751 Orofaciodigital syndrome type 2 Orphanet:2751 orofaciodigital syndrome type 2 Orphanet:2751 MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym Arsb deficiency Arsb deficiency ARSB deficiency Orphanet:583 Mucopolysaccharidosis type 6 OMIM:253200 Arsb deficiency Orphanet:583 -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency NCIT:C98842 multiple carboxylase deficiency Orphanet:148 MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile spinal muscular atrophy infantile spinal muscular atrophy Infantile spinal muscular atrophy Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 infantile spinal muscular atrophy Orphanet:83330 MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 1 proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 1 Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 proximal spinal muscular atrophy type 1 Orphanet:83330 -MONDO:0009670 lethal congenital contracture syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LCCS Lccs LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253310 LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile spinal muscular atrophy Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 juvenile spinal muscular atrophy Orphanet:83419 MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 3 proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 3 Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 proximal spinal muscular atrophy type 3 Orphanet:83419 MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 2 proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 2 Orphanet:83418 Proximal spinal muscular atrophy type 2 Orphanet:83418 proximal spinal muscular atrophy type 2 Orphanet:83418 @@ -21924,22 +19614,14 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2H limb-girdle muscular dystrophy type 2H Limb-girdle muscular dystrophy type 2H Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 GARD:0003844 limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:0009691 mycosis fungoides oio:hasExactSynonym oio:hasRelatedSynonym classic mycosis fungoides classic mycosis fungoides Classic mycosis fungoides Orphanet:2584 Classic mycosis fungoides Orphanet:2584 classic mycosis fungoides Orphanet:2584 MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia Orphanet:824 Primary myelofibrosis OMIM:254450, Orphanet:824 myelofibrosis with myeloid metaplasia Orphanet:824 -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis Orphanet:85443 AL amyloidosis OMIM:254500 Al amyloidosis Orphanet:85443 MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym EPM2 Epm2 EPM2 Orphanet:501 Lafora disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254780 EPM2 Orphanet:501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym ULD Uld ULD Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254800 ULD Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym EPM1 Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003876 EPM1 Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy Orphanet:98261 Progressive myoclonic epilepsy OMIM:254800 progressive myoclonic epilepsy Orphanet:98261 MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB Orphanet:636970 Autosomal recessive myosin storage myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 MSMB Orphanet:636970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym NAM Orphanet:206569 Immune-mediated necrotizing myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:255995, MONDO:Lexical NAM Orphanet:206569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym De la Chapelle dysplasia Orphanet:56304 Atelosteogenesis type II Orphanet:56304 De la Chapelle dysplasia Orphanet:56304 -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Orphanet:2671 Neu-Laxova syndrome OMIM:256520 Neu-Laxova syndrome Orphanet:2671 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis Orphanet:309279 Glycoproteinosis DOID:3343 glycoproteinosis Orphanet:309279 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis Orphanet:309294 Sialidosis DOID:3343 sialidosis Orphanet:309294 -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis Orphanet:812 Sialidosis type 1 OMIM:256550 lipomucopolysaccharidosis Orphanet:812 MONDO:0009745 neuronal ceroid lipofuscinosis 5 oio:hasExactSynonym oio:hasRelatedSynonym CLN5 disease Orphanet:228360 CLN5 disease Orphanet:228360 CLN5 disease Orphanet:228360 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 CIPA Orphanet:642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome Orphanet:2715 Severe oculo-renal-cerebellar syndrome OMIM:257970 ORC syndrome Orphanet:2715 -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia ectodermal dysplasia Ectodermal dysplasia Orphanet:79373 Ectodermal dysplasia syndrome OMIM:257980 ectodermal dysplasia Orphanet:79373 MONDO:0009774 cloacal exstrophy oio:hasExactSynonym oio:hasRelatedSynonym OEIS complex Orphanet:93929 Cloacal exstrophy Orphanet:93929, OMIM:258040 OEIS complex Orphanet:93929 MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia Orphanet:2746 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 OPSISMODYSPLASIA Orphanet:2746 MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome with retinal abnormalities oral-Facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with retinal abnormalities Orphanet:141007 Orofaciodigital syndrome type 9 OMIM:258865 oral-Facial-digital syndrome with retinal abnormalities Orphanet:141007 @@ -21947,14 +19629,11 @@ MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym gyrate atrophy of choroid and retina gyrate atrophy of choroid and retina Gyrate atrophy of choroid and retina Orphanet:414 Gyrate atrophy of choroid and retina MONDO:Lexical, OMIM:258870 gyrate atrophy of choroid and retina Orphanet:414 MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria Orphanet:30 Hereditary orotic aciduria Orphanet:30 hereditary orotic aciduria Orphanet:30 MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Orphanet:324964 -MONDO:0009821 lethal osteosclerotic bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym RNS Orphanet:71273 Renal nutcracker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:259775 RNS Orphanet:71273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis GARD:0007708 Dawson encephalitis Orphanet:2806 MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis Orphanet:2806 -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma Orphanet:251899 Choroid plexus carcinoma OMIM:260500 choroid plexus carcinoma Orphanet:251899 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of choroid plexus Orphanet:2807 Papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 papilloma of choroid plexus Orphanet:2807 MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009838 Parana hard-skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parana hard skin syndrome Orphanet:2812 Parana hard skin syndrome Orphanet:2812 Parana hard skin syndrome Orphanet:2812 -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome peho-like syndrome PEHO-like syndrome Orphanet:99807 PEHO-like syndrome OMIM:260565 peho-like syndrome Orphanet:99807 MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome Cousin syndrome Orphanet:93333 Pelviscapular dysplasia OMIM:260660 COUSIN syndrome Orphanet:93333 MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency intrinsic factor deficiency Intrinsic factor deficiency Orphanet:332 Congenital intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 intrinsic factor deficiency Orphanet:332 MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym bifunctional enzyme deficiency bifunctional enzyme deficiency Bifunctional enzyme deficiency Orphanet:300 Bifunctional enzyme deficiency GARD:0004539 bifunctional enzyme deficiency Orphanet:300 @@ -21965,11 +19644,6 @@ MONDO:0009867 lethal congenital glycogen storage disease of heart oio:hasExactSy MONDO:0009868 glycogen storage disease IXb oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to liver and muscle phosphorylase kinase deficiency glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Pierre Robin syndrome isolated Pierre Robin syndrome Isolated Pierre Robin syndrome Orphanet:718 Isolated Pierre Robin syndrome Orphanet:718 isolated Pierre Robin syndrome Orphanet:718 MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJörnstad syndrome BJörnstad syndrome Björnstad syndrome Orphanet:123 Björnstad syndrome Orphanet:123 BJörnstad syndrome Orphanet:123 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD congenital IGHD Congenital IGHD Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital IGHD Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency congenital isolated GH deficiency Congenital isolated GH deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital isolated GH deficiency Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency congenital isolated growth hormone deficiency Congenital isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 congenital isolated growth hormone deficiency Orphanet:631 -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency non-acquired isolated growth hormone deficiency Non-acquired isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 non-acquired isolated growth hormone deficiency Orphanet:631 -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth hormone insensitivity syndrome Orphanet:181393 Growth hormone insensitivity syndrome OMIM:262500 growth hormone insensitivity syndrome Orphanet:181393 MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome Orphanet:629 Short stature due to growth hormone qualitative anomaly OMIM:262650 KOWARSKI syndrome Orphanet:629 MONDO:0009883 alpha-2-plasmin inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital alpha2-antiplasmin deficiency congenital alpha2-antiplasmin deficiency Congenital alpha2-antiplasmin deficiency Orphanet:79 Congenital alpha2-antiplasmin deficiency Orphanet:79 congenital alpha2-antiplasmin deficiency Orphanet:79 MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym Chuvash erythrocytosis Orphanet:238557 Chuvash erythrocytosis Orphanet:238557 Chuvash erythrocytosis Orphanet:238557 @@ -21977,46 +19651,33 @@ MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym cong MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pterin-4 alpha-carbinolamine dehydratase deficiency pterin-4 alpha-carbinolamine dehydratase deficiency Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum Orphanet:758 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 pseudoxanthoma elasticum Orphanet:758 -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome Orphanet:294060 Multiple pterygium syndrome OMIM:265000, GARD:0007111 multiple pterygium syndrome Orphanet:294060 MONDO:0009936 familial primary pulmonary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym primary pulmonary hypoplasia primary pulmonary hypoplasia Primary pulmonary hypoplasia Orphanet:2257 Primary pulmonary hypoplasia Orphanet:2257 primary pulmonary hypoplasia Orphanet:2257 MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Umph1 deficiency Umph1 deficiency UMPH1 deficiency Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency OMIM:266120 Umph1 deficiency Orphanet:35120 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione synthetase deficiency Orphanet:32 Glutathione synthetase deficiency OMIM:266130, MONDO:Lexical glutathione synthetase deficiency Orphanet:32 MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency Orphanet:3008 Pyruvate carboxylase deficiency OMIM:266150 pyruvate carboxylase deficiency Orphanet:3008 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym primitive renal tubule syndrome primitive renal tubule syndrome Primitive renal tubule syndrome Orphanet:3033 Renal tubular dysgenesis OMIM:267430 primitive renal tubule syndrome Orphanet:3033 -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis Orphanet:3033 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 renal tubular dysgenesis Orphanet:3033 MONDO:0009971 respiratory distress syndrome in premature infants oio:hasExactSynonym oio:hasRelatedSynonym hyaline Membrane disease hyaline Membrane disease Hyaline membrane disease Orphanet:70587 Infant acute respiratory distress syndrome OMIM:267450 hyaline Membrane disease Orphanet:70587 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym Covesdem syndrome Covesdem syndrome COVESDEM syndrome Orphanet:1507 Autosomal recessive Robinow syndrome OMIM:268310 Covesdem syndrome Orphanet:1507 MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency sarcosine dehydrogenase complex deficiency Sarcosine dehydrogenase complex deficiency Orphanet:3129 Sarcosinemia OMIM:268900, Orphanet:3129 sarcosine dehydrogenase complex deficiency Orphanet:3129 -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym congenital cataract microcornea with corneal opacity congenital cataract microcornea with corneal opacity Congenital cataract microcornea with corneal opacity Orphanet:289499 Congenital cataract microcornea with corneal opacity Orphanet:289499 congenital cataract microcornea with corneal opacity Orphanet:289499 MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis sea-blue histiocytosis Sea-blue histiocytosis Orphanet:158029 Sea-blue histiocytosis OMIM:269600 sea-blue histiocytosis Orphanet:158029 MONDO:0010024 Beemer-Langer syndrome oio:hasExactSynonym oio:hasRelatedSynonym short rib-polydactyly syndrome, Beemer-Langer type short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus situs ambiguus Situs ambiguus Orphanet:157769 Situs ambiguus NCIT:C87121 situs ambiguus Orphanet:157769 MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary Sjögren syndrome primary Sjögren syndrome Primary Sjögren syndrome Orphanet:289390 Primary Sjögren syndrome Orphanet:289390 primary Sjögren syndrome Orphanet:289390 MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjögren-Larsson syndrome Orphanet:816 Sjögren-Larsson syndrome GARD:0007654 Sjögren-Larsson syndrome Orphanet:816 -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 1 peeling skin syndrome 1 Peeling skin syndrome 1 Orphanet:263553 Peeling skin syndrome type B MONDO:Lexical, OMIM:270300 peeling skin syndrome 1 Orphanet:263553 -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300, MONDO:Lexical PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010041 Charlevoix-Saguenay spastic ataxia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay OMIM:270550 autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 23 autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 autosomal recessive spastic paraplegia type 23 Orphanet:101003 MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 4 proximal spinal muscular atrophy type 4 Proximal spinal muscular atrophy type 4 Orphanet:83420 Proximal spinal muscular atrophy type 4 Orphanet:83420 proximal spinal muscular atrophy type 4 Orphanet:83420 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia SPONASTRIME dysplasia Orphanet:93357 SPONASTRIME dysplasia OMIM:271510 Sponastrime dysplasia Orphanet:93357 MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Acy2 deficiency Acy2 deficiency ACY2 deficiency Orphanet:141 Canavan disease OMIM:271900 Acy2 deficiency Orphanet:141 -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis Orphanet:1576 Infantile bilateral striatal necrosis OMIM:271930 infantile bilateral striatal necrosis Orphanet:1576 MONDO:0010083 succinic semialdehyde dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Ssadh deficiency Ssadh deficiency SSADH deficiency Orphanet:22 Succinic semialdehyde dehydrogenase deficiency OMIM:271980 Ssadh deficiency Orphanet:22 MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency Orphanet:585 Multiple sulfatase deficiency MONDO:Lexical, OMIM:272200 multiple sulfatase deficiency Orphanet:585 MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome Orphanet:3255 Filippi syndrome OMIM:272440 FILIPPI syndrome Orphanet:3255 MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, AB variant Orphanet:309246 GM2 gangliosidosis, AB variant Orphanet:309246 GM2 gangliosidosis, AB variant Orphanet:309246 MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease Orphanet:845 Tay-Sachs disease OMIM:272800 TAY-Sachs disease Orphanet:845 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor Orphanet:876 Yolk sac tumor OMIM:273300 endodermal sinus tumor Orphanet:876 -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma Orphanet:99865 Spermatocytic seminoma OMIM:273300 spermatocytic seminoma Orphanet:99865 MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR syndrome Orphanet:3320 Thrombocytopenia-absent radius syndrome OMIM:274000 Tar syndrome Orphanet:3320 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010148 Mounier-Kuhn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mounier-Kühn syndrome Orphanet:3347 Mounier-Kühn syndrome Orphanet:3347 Mounier-Kühn syndrome Orphanet:3347 MONDO:0010149 transcobalamin II deficiency oio:hasExactSynonym oio:hasRelatedSynonym transcobalamin deficiency transcobalamin deficiency Transcobalamin deficiency Orphanet:859 Transcobalamin deficiency Orphanet:859 transcobalamin deficiency Orphanet:859 -MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:275630 CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym Dorfman-Chanarin syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 Dorfman-Chanarin syndrome Orphanet:98907 MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym neutral Lipid storage disease with ichthyosis neutral Lipid storage disease with ichthyosis Neutral lipid storage disease with ichthyosis Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 neutral Lipid storage disease with ichthyosis Orphanet:98907 MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym DCS DCs DCS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003979 DCS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22026,8 +19687,6 @@ MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Fah d MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 1 tyrosinemia type 1 Tyrosinemia type 1 Orphanet:882 Tyrosinemia type 1 GARD:0002658 tyrosinemia type 1 Orphanet:882 MONDO:0010162 tyrosinemia type III oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 3 tyrosinemia type 3 Tyrosinemia type 3 Orphanet:69723 Tyrosinemia type 3 GARD:0010332 tyrosinemia type 3 Orphanet:69723 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100, OMIM:277000 MRKH syndrome Orphanet:3109 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100 Rokitansky syndrome Orphanet:3109 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 Váradi syndrome Orphanet:2754 MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi-Papp syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 Váradi-Papp syndrome Orphanet:2754 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic acidemia with homocystinuria type cblF methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 @@ -22044,25 +19703,17 @@ MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthin MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidoreductase deficiency xanthine oxidoreductase deficiency Xanthine oxidoreductase deficiency Orphanet:93601 Xanthinuria type I Orphanet:93601 xanthine oxidoreductase deficiency Orphanet:93601 MONDO:0010214 xeroderma pigmentosum variant type oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum variant xeroderma pigmentosum variant Xeroderma pigmentosum variant Orphanet:90342 Xeroderma pigmentosum variant Orphanet:90342 xeroderma pigmentosum variant Orphanet:90342 MONDO:0010220 Young syndrome oio:hasExactSynonym oio:hasRelatedSynonym sinusitis-infertility syndrome sinusitis-infertility syndrome Sinusitis-infertility syndrome Orphanet:3471 Young syndrome OMIM:279000 sinusitis-infertility syndrome Orphanet:3471 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy Orphanet:139399 Adrenomyeloneuropathy OMIM:300100 adrenomyeloneuropathy Orphanet:139399 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym ALD Orphanet:43 X-linked adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300100, MONDO:Lexical ALD Orphanet:43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 ATS-MR Orphanet:86818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC Orphanet:2131 Alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical AHC Orphanet:2131 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym X-linked AHC Orphanet:95702 X-linked adrenal hypoplasia congenita GARD:0000555 X-linked AHC Orphanet:95702 MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shashi type Orphanet:85286 X-linked intellectual disability, Shashi type Orphanet:85286 X-linked intellectual disability, Shashi type Orphanet:85286 MONDO:0010281 Danon disease oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to LAMP-2 deficiency glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 Danon disease Orphanet:34587 glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 duplication syndrome Orphanet:1762 Proximal Xq28 duplication syndrome OMIM:300260 MECP2 Duplication syndrome Orphanet:1762 MONDO:0010285 syndromic X-linked intellectual disability Abidi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Abidi type Orphanet:85273 X-linked intellectual disability, Abidi type Orphanet:85273 X-linked intellectual disability, Abidi type Orphanet:85273 MONDO:0010286 syndromic X-linked intellectual disability Siderius type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Siderius type Orphanet:85287 X-linked intellectual disability, Siderius type Orphanet:85287 X-linked intellectual disability, Siderius type Orphanet:85287 -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym HPRT deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 HPRT deficiency Orphanet:206428 -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 Hprt1 deficiency Orphanet:206428 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency OMIM:300323 KELLEY-Seegmiller syndrome Orphanet:79233 MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency Orphanet:52503 X-linked creatine transporter deficiency Orphanet:52503 X-linked creatine transporter deficiency Orphanet:52503 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia striata-cranial sclerosis syndrome osteopathia striata-cranial sclerosis syndrome Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 osteopathia striata-cranial sclerosis syndrome Orphanet:2780 MONDO:0010319 syndromic X-linked intellectual disability Hedera type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Hedera type Orphanet:93952 X-linked intellectual disability, Hedera type Orphanet:93952 X-linked intellectual disability, Hedera type Orphanet:93952 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym HSD10 deficiency, atypical type Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 HSD10 deficiency, atypical type Orphanet:85295 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym syndromic X-linked intellectual disability type 10 syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 10 Orphanet:85295 HSD10 disease, atypical type MONDO:0010272, Orphanet:85295 syndromic X-linked intellectual disability type 10 Orphanet:85295 MONDO:0010336 orofaciodigital syndrome VIII oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 8 orofaciodigital syndrome type 8 Orofaciodigital syndrome type 8 Orphanet:2755 Orofaciodigital syndrome type 8 Orphanet:2755 orofaciodigital syndrome type 8 Orphanet:2755 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 oio:hasExactSynonym oio:hasRelatedSynonym DSMAX Dsmax DSMAX Orphanet:139557 X-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300489 DSMAX Orphanet:139557 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness-intellectual disability syndrome, Martin-Probst type deafness-intellectual disability syndrome, Martin-Probst type Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 @@ -22075,14 +19726,11 @@ MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSy MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym Star syndrome Star syndrome STAR syndrome Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM:300707 Star syndrome Orphanet:140952 MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shrimpton type Orphanet:85324 X-linked intellectual disability, Shrimpton type Orphanet:85324 X-linked intellectual disability, Shrimpton type Orphanet:85324 MONDO:0010417 syndromic X-linked intellectual disability Najm type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Najm type Orphanet:163937 X-linked intellectual disability, Najm type Orphanet:163937 X-linked intellectual disability, Najm type Orphanet:163937 -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease Orphanet:90001 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 BORNHOLM eye disease Orphanet:90001 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Nascimento type Orphanet:163956 X-linked intellectual disability, Nascimento type Orphanet:163956 X-linked intellectual disability, Nascimento type Orphanet:163956 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 MONDO:0010476 neurodegeneration with brain iron accumulation 5 oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy of childhood with neurodegeneration in adulthood static encephalopathy of childhood with neurodegeneration in adulthood Static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 Beta-propeller protein-associated neurodegeneration OMIM:300894 static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym CMT6X Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110207, Orphanet:352675 CMT6X Orphanet:352675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym XLSA-A Xlsa-A XLSA-A Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536358 XLSA-A Orphanet:2802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010529 X-linked spinocerebellar ataxia type 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAX3 Scax3 SCAX3 Orphanet:85297 X-linked spinocerebellar ataxia type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301790 SCAX3 Orphanet:85297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22090,26 +19738,16 @@ MONDO:0010534 X-linked spinocerebellar ataxia type 4 oio:hasExactSynonym oio:has MONDO:0010537 Borjeson-Forssman-Lehmann syndrome oio:hasExactSynonym oio:hasRelatedSynonym Borjeson-FORSSMAN-Lehmann syndrome Borjeson-FORSSMAN-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome Orphanet:127 Borjeson-Forssman-Lehmann syndrome OMIM:301900 Borjeson-FORSSMAN-Lehmann syndrome Orphanet:127 MONDO:0010543 Barth syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARTH syndrome BARTH syndrome Barth syndrome Orphanet:111 Barth syndrome OMIM:302060 BARTH syndrome Orphanet:111 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 CMT1X Orphanet:101075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMT2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 CMT2 Orphanet:64746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMTX Orphanet:64747 X-linked Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 CMTX Orphanet:64747 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome Orphanet:275543 L1 syndrome DOID:0060246 CRASH syndrome Orphanet:275543 MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome Orphanet:192 Coffin-Lowry syndrome OMIM:303600 COFFIN-Lowry syndrome Orphanet:192 MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew Syndrome Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome MONDO:Lexical, OMIM:304340 PETTIGREW syndrome Orphanet:1568 -MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome Orphanet:85335 Fried syndrome DOID:0060800 fried syndrome Orphanet:85335 MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome Orphanet:52368 Mohr-Tranebjaerg syndrome OMIM:304700, MONDO:Lexical MOHR-Tranebjaerg syndrome Orphanet:52368 -MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTS Orphanet:675404 May-Thurner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304700, MONDO:Lexical MTS Orphanet:675404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome type 1 Orphanet:93932 FG syndrome type 1 Orphanet:93932 FG syndrome type 1 Orphanet:93932 MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Orphanet:93932 FG syndrome type 1 MONDO:Lexical, OMIM:305450 Opitz-Kaveggia syndrome Orphanet:93932 -MONDO:0010604 hemophilia B oio:hasExactSynonym oio:hasRelatedSynonym hemophilia B Leyden hemophilia B Leyden Hemophilia B Leyden Orphanet:617930 Hemophilia B Leyden OMIM:306900 hemophilia B Leyden Orphanet:617930 -MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia hyperglycerolemia Hyperglycerolemia Orphanet:408 Isolated glycerol kinase deficiency OMIM:307030 hyperglycerolemia Orphanet:408 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia Orphanet:89936 X-linked hypophosphatemia DOID:0050445 X-linked hypophosphatemia Orphanet:89936 MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets Orphanet:89936 X-linked hypophosphatemia Orphanet:89936 X-linked hypophosphatemic rickets Orphanet:89936 MONDO:0010621 CHILD syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 CHILD syndrome OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative disease Orphanet:2442 X-linked lymphoproliferative disease Orphanet:2442 X-linked lymphoproliferative disease Orphanet:2442 MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2442 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym X-linked lymphoproliferative syndrome type 1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency DOID:0060705, MONDORULE:1 X-linked lymphoproliferative syndrome type 1 Orphanet:538931 -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis laryngeal abductor paralysis Laryngeal abductor paralysis Orphanet:2808 Laryngeal abductor paralysis OMIM:308850 laryngeal abductor paralysis Orphanet:2808 MONDO:0010650 Melnick-Needles syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELNICK-NEEDLES syndrome MELNICK-NEEDLES syndrome Melnick-Needles syndrome Orphanet:2484 Melnick-Needles syndrome OMIM:309350 MELNICK-NEEDLES syndrome Orphanet:2484 MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym oio:hasRelatedSynonym LUJAN-Fryns syndrome LUJAN-Fryns syndrome Lujan-Fryns syndrome Orphanet:776 Lujan-Fryns syndrome OMIM:309520 LUJAN-Fryns syndrome Orphanet:776 MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym oio:hasRelatedSynonym severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 @@ -22117,7 +19755,6 @@ MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExac MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency Orphanet:642691 Fragile X-associated primary ovarian insufficiency GARD:0004480 fragile X-associated primary ovarian insufficiency Orphanet:642691 MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome MONDO:Lexical, OMIM:311510 WAISMAN syndrome Orphanet:2379 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency Orphanet:765 Pyruvate dehydrogenase deficiency OMIM:312170 pyruvate dehydrogenase Complex deficiency Orphanet:765 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 pyruvate decarboxylase deficiency Orphanet:79243 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency OMIM:312170 pyruvate dehydrogenase E1-ALPHA deficiency Orphanet:79243 MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGBS Sgbs SGBS Orphanet:373 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312870 SGBS Orphanet:373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22127,17 +19764,10 @@ MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss oio:hasExac MONDO:0010789 MELAS syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELAS Orphanet:550 MELAS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:540000 MELAS Orphanet:550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia Orphanet:466 Fatal familial insomnia OMIM:600072 fatal familial INSOMNIA Orphanet:466 MONDO:0010830 neuronal ceroid lipofuscinosis 8 oio:hasExactSynonym oio:hasRelatedSynonym CLN8 disease Orphanet:228354 CLN8 disease Orphanet:228354 CLN8 disease Orphanet:228354 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal dysgenesis syndrome caudal dysgenesis syndrome Caudal dysgenesis syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145, GARD:0004751 caudal dysgenesis syndrome Orphanet:3027 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal regression syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145 caudal regression syndrome Orphanet:3027 -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia Orphanet:3169 Sirenomelia OMIM:600145 sirenomelia Orphanet:3169 MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSynonym oio:hasRelatedSynonym mucocutaneous venous malformations mucocutaneous venous malformations Mucocutaneous venous malformations Orphanet:2451 Mucocutaneous venous malformations Orphanet:2451 mucocutaneous venous malformations Orphanet:2451 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oio:hasExactSynonym oio:hasRelatedSynonym PKDTS Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600273 PKDTS Orphanet:88924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia Frontotemporal dementia Orphanet:282 Frontotemporal dementia MONDO:Lexical, OMIM:600274 frontotemporal dementia Orphanet:282 -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym FTD Orphanet:282 Frontotemporal dementia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600274 FTD Orphanet:282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010907 familial hypertryptophanemia oio:hasExactSynonym oio:hasBroadSynonym hypertryptophanemia hypertryptophanemia Hypertryptophanemia Orphanet:2224 Hypertryptophanemia OMIM:600627, OMIM:genemap2 hypertryptophanemia Orphanet:2224 -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia Orphanet:93976 Anotia MESH:D065817 anotia Orphanet:93976 MONDO:0010932 progressive bifocal chorioretinal atrophy oio:hasExactSynonym oio:hasRelatedSynonym CRAPB Crapb CRAPB Orphanet:75373 Progressive bifocal chorioretinal atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600790 CRAPB Orphanet:75373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome OMIM:600920 VAN DEN Ende-Gupta syndrome Orphanet:2460 MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1B achondrogenesis type 1B Achondrogenesis type 1B Orphanet:93298 Achondrogenesis type 1B Orphanet:93298 achondrogenesis type 1B Orphanet:93298 @@ -22146,21 +19776,17 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 MONDO:0010983 dystonia 9 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal dystonic choreathetosis with episodic ataxia and spasticity paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome Orphanet:240071 Steele-Richardson-Olszewski disease Orphanet:240071 MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym spear syndrome spear syndrome Spear syndrome Orphanet:2470 Matthew-Wood syndrome OMIM:601186 spear syndrome Orphanet:2470 -MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB familial tumor and dysplasia syndrome Orphanet:284343 DICER1 tumor-predisposition syndrome OMIM:601200 PPB familial tumor and dysplasia syndrome Orphanet:284343 MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome Proximal 11p deletion syndrome Orphanet:52022 Potocki-Shaffer syndrome OMIM:601224 proximal 11P deletion syndrome Orphanet:52022 -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, CAYMAN type cerebellar ataxia, CAYMAN type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type OMIM:601238 cerebellar ataxia, CAYMAN type Orphanet:94122 MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, Cayman type cerebellar ataxia, Cayman type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type MONDO:Lexical, OMIM:601238 cerebellar ataxia, Cayman type Orphanet:94122 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasBroadSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 DOID:0110280, Orphanet:219 delta-sarcoglycanopathy Orphanet:219 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2F limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2F Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 GARD:0008573 limb-girdle muscular dystrophy type 2F Orphanet:219 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome Orphanet:3051 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 NICOLAIDES-Baraitser syndrome Orphanet:3051 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS Orphanet:647 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 NBS Orphanet:647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011065 Hunter-McAlpine craniosynostosis oio:hasExactSynonym oio:hasRelatedSynonym Hunter-McAlpine syndrome Orphanet:97340 Hunter-McAlpine syndrome GARD:0002754 Hunter-McAlpine syndrome Orphanet:97340 MONDO:0011073 diabetes mellitus, transient neonatal, 1 oio:hasExactSynonym oio:hasRelatedSynonym TNDM Tndm TNDM Orphanet:99886 Transient neonatal diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601410 TNDM Orphanet:99886 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011082 oculoauriculofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym OCULOAURICULOFRONTONASAL syndrome OCULOAURICULOFRONTONASAL syndrome Oculoauriculofrontonasal syndrome Orphanet:398156 Oculoauriculofrontonasal syndrome OMIM:601452 OCULOAURICULOFRONTONASAL syndrome Orphanet:398156 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency due to complete RAG1/2 deficiency severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency Orphanet:67041 Hyaluronidase deficiency OMIM:601492 hyaluronidase deficiency Orphanet:67041 -MONDO:0011099 human HOXA1 syndromes oio:hasExactSynonym oio:hasRelatedSynonym Bosley-Salih-Alorainy syndrome Orphanet:69737 Bosley-Salih-Alorainy syndrome OMIM:601536 Bosley-Salih-Alorainy syndrome Orphanet:69737 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis with juvenile macular degeneration hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular degeneration Orphanet:1573 Hypotrichosis with juvenile macular degeneration Orphanet:1573 hypotrichosis with juvenile macular degeneration Orphanet:1573 MONDO:0011109 multiple epiphyseal dysplasia, Lowry type oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia with ROBIN phenotype multiple epiphyseal dysplasia with ROBIN phenotype Multiple epiphyseal dysplasia with Robin phenotype Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type OMIM:601560 multiple epiphyseal dysplasia with ROBIN phenotype Orphanet:166016 MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oio:hasExactSynonym oio:hasRelatedSynonym SEMDAD Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601668 SEMDAD Orphanet:168451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22189,55 +19815,37 @@ MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSy MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type oio:hasExactSynonym oio:hasRelatedSynonym blepharophimosis-intellectual disability syndrome, Verloes type blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type OMIM:604314 blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mcgrath syndrome Mcgrath syndrome McGrath syndrome Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome OMIM:604536 Mcgrath syndrome Orphanet:158668 MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome Bohring-Opitz syndrome Orphanet:97297 Bohring-Opitz syndrome OMIM:605039 BOHRING-Opitz syndrome Orphanet:97297 -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS Orphanet:2353 Schilbach-Rott syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 BRSS Orphanet:2353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011532 hereditary spastic paraplegia 13 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 13 autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 autosomal dominant spastic paraplegia type 13 Orphanet:100994 MONDO:0011533 temtamy preaxial brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY preaxial brachydactyly syndrome TEMTAMY preaxial brachydactyly syndrome Temtamy preaxial brachydactyly syndrome Orphanet:363417 Temtamy preaxial brachydactyly syndrome OMIM:605282 TEMTAMY preaxial brachydactyly syndrome Orphanet:363417 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MMDS1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605711 MMDS1 Orphanet:401869 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:hasRelatedSynonym inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym distal hereditary motor neuropathy, Jerash type distal hereditary motor neuropathy, Jerash type Distal hereditary motor neuropathy, Jerash type Orphanet:139552 Distal hereditary motor neuropathy, Jerash type Orphanet:139552 distal hereditary motor neuropathy, Jerash type Orphanet:139552 MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital onychodysplasia isolated congenital onychodysplasia Isolated congenital onychodysplasia Orphanet:79144 Isolated congenital onychodysplasia Orphanet:79144 isolated congenital onychodysplasia Orphanet:79144 -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM Orphanet:607 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 NM Orphanet:607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency DMGDH deficiency Orphanet:243343 Dimethylglycine dehydrogenase deficiency OMIM:605850 Dmgdh deficiency Orphanet:243343 MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy Orphanet:407 Glycine encephalopathy OMIM:605899 GLYCINE encephalopathy Orphanet:407 MONDO:0011624 transaldolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Taldo deficiency Taldo deficiency TALDO deficiency Orphanet:101028 Transaldolase deficiency OMIM:606003 Taldo deficiency Orphanet:101028 MONDO:0011628 propionic acidemia oio:hasExactSynonym oio:hasRelatedSynonym propionyl-Coa carboxylase deficiency propionyl-Coa carboxylase deficiency Propionyl-CoA carboxylase deficiency Orphanet:35 Propionic acidemia OMIM:606054 propionyl-Coa carboxylase deficiency Orphanet:35 MONDO:0011640 genitopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym GENITOPATELLAR syndrome GENITOPATELLAR syndrome Genitopatellar syndrome Orphanet:85201 Genitopatellar syndrome OMIM:606170 GENITOPATELLAR syndrome Orphanet:85201 -MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 deletion syndrome Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion OMIM:606232 chromosome 22Q13.3 deletion syndrome Orphanet:662169 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma Orphanet:163699 Alveolar soft tissue sarcoma OMIM:606243, MONDO:Lexical alveolar soft PART sarcoma Orphanet:163699 MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft tissue sarcoma alveolar soft tissue sarcoma Alveolar soft tissue sarcoma Orphanet:163699 Alveolar soft tissue sarcoma Orphanet:163699 alveolar soft tissue sarcoma Orphanet:163699 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant intermediate Charcot-Marie-Tooth disease type B autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Momes syndrome Momes syndrome MOMES syndrome Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome OMIM:606772 Momes syndrome Orphanet:397973 -MONDO:0011749 oculocutaneous albinism type 1B oio:hasExactSynonym oio:hasRelatedSynonym OCA1-TS Oca1-Ts OCA1-TS Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606952 OCA1-TS Orphanet:352737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis type Ih/S mucopolysaccharidosis type Ih/S Mucopolysaccharidosis type IH/S Orphanet:93476 Hurler-Scheie syndrome OMIM:607015 mucopolysaccharidosis type Ih/S Orphanet:93476 MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2I Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 GARD:0012533 limb-girdle muscular dystrophy type 2I Orphanet:34515 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with axonal neuropathy type 1 spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds cEDS Orphanet:287 Classical Ehlers-Danlos syndrome OMIM:607271 Ceds Orphanet:287 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia subcortical band heterotopia Subcortical band heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 subcortical band heterotopia Orphanet:99796 -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia subcortical laminar heterotopia Subcortical laminar heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 subcortical laminar heterotopia Orphanet:99796 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with epilepsy spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with epilepsy Orphanet:254881 Spinocerebellar ataxia with epilepsy OMIM:607459 spinocerebellar ataxia with epilepsy Orphanet:254881 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym CDA Orphanet:85 Congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607541 CDA Orphanet:85 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nisch syndrome Nisch syndrome NISCH syndrome Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM:607626 Nisch syndrome Orphanet:59303 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHACS Chacs CHACS Orphanet:307766 Curly hair-acral keratoderma-caries syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607656 CHACS Orphanet:307766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hopp syndrome Hopp syndrome HOPP syndrome Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome OMIM:607658 Hopp syndrome Orphanet:307936 MONDO:0011886 torsion dystonia 13 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT13 type primary dystonia, DYT13 type Primary dystonia, DYT13 type Orphanet:98807 Primary dystonia, DYT13 type Orphanet:98807 primary dystonia, DYT13 type Orphanet:98807 MONDO:0011889 Charcot-Marie-Tooth disease type 2I oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2I autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 -MONDO:0011895 idiopathic hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym HES Orphanet:168956 Hypereosinophilic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607685, MONDO:Lexical HES Orphanet:168956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy dentoleukoencephalopathy Dentoleukoencephalopathy Orphanet:77295 Odontoleukodystrophy DOID:0060794 dentoleukoencephalopathy Orphanet:77295 MONDO:0011903 Charcot-Marie-Tooth disease type 2J oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2J autosomal dominant Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 -MONDO:0011904 seizures, benign familial infantile, 3 oio:hasExactSynonym oio:hasRelatedSynonym benign familial infantile convulsions benign familial infantile convulsions Benign familial infantile convulsions Orphanet:306 Benign familial infantile epilepsy GARD:0001518 benign familial infantile convulsions Orphanet:306 MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 Congenital bile acid synthesis defect type 1 OMIM:607765 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia NCIT:C9233 chronic myelomonocytic leukemia Orphanet:98823 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K oio:hasExactSynonym oio:hasRelatedSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607831 CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy type 1A congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1A Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy Orphanet:258 congenital muscular dystrophy type 1A Orphanet:258 -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND Orphanet:1827 Acromelic frontonasal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 AFND Orphanet:1827 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011975 paternal uniparental disomy of chromosome 14 oio:hasExactSynonym oio:hasRelatedSynonym KAGAMI-Ogata syndrome KAGAMI-Ogata syndrome Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome OMIM:608149 KAGAMI-Ogata syndrome Orphanet:254519 MONDO:0011977 8q22.1 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym NABLUS mask-like facial syndrome NABLUS mask-like facial syndrome Nablus mask-like facial syndrome Orphanet:178303 8q22.1 microdeletion syndrome OMIM:608156, MONDO:Lexical NABLUS mask-like facial syndrome Orphanet:178303 MONDO:0011997 Hermansky-Pudlak syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Orphanet:183678 Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome spherophakia-brachymorphia syndrome Spherophakia-brachymorphia syndrome Orphanet:3449 Weill-Marchesani syndrome OMIM:608328 spherophakia-brachymorphia syndrome Orphanet:3449 MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical capillary malformation-arteriovenous malformation Orphanet:137667 MONDO:0012020 chromosome 22q11.2 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym 22q11.2 duplication syndrome Orphanet:1727 22q11.2 duplication syndrome GARD:0010557 22q11.2 duplication syndrome Orphanet:1727 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1F limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1F Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 GARD:0012530 limb-girdle muscular dystrophy type 1F Orphanet:55595 @@ -22248,17 +19856,14 @@ MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym MONDO:0012089 ichthyosis prematurity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis-prematurity syndrome ichthyosis-prematurity syndrome Ichthyosis-prematurity syndrome Orphanet:88621 Ichthyosis-prematurity syndrome Orphanet:88621 ichthyosis-prematurity syndrome Orphanet:88621 MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym Atic deficiency Atic deficiency ATIC deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 Atic deficiency Orphanet:250977 -MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym oio:hasBroadSynonym ANCA-associated vasculitis Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis PMID:16887845, PMID:28148583 ANCA-associated vasculitis Orphanet:156152 MONDO:0012117 ALG9-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate deficient glycoprotein syndrome type IL carbohydrate deficient glycoprotein syndrome type IL Carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 ALG9-CDG GARD:0009839 carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym oio:hasRelatedSynonym DPM1-CDG Orphanet:79322 DPM1-CDG http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79322 DPM1-CDG Orphanet:79322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2J limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2J Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 GARD:0012534 limb-girdle muscular dystrophy type 2J Orphanet:140922 MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym alpha-B crystallin-related late-onset distal myopathy alpha-B crystallin-related late-onset distal myopathy Alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 Alpha-B crystallin-related late-onset myopathy Orphanet:399058 alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CARNEY complex variant CARNEY complex variant Carney complex variant Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome OMIM:608837 CARNEY complex variant Orphanet:319340 -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA Orphanet:54247 Posterior cortical atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical PCA Orphanet:54247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies Bifid nose with or without anorectal and renal anomalies Orphanet:217266 BNAR syndrome MONDO:Lexical, OMIM:608980 bifid NOSE with or without anorectal and renal anomalies Orphanet:217266 MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency Orphanet:746 Mitochondrial trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional PROTEIN deficiency Orphanet:746 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym PCARP Pcarp PCARP Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609033 PCARP Orphanet:88628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym PACA paca PACA Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609069, MONDO:Lexical PACA Orphanet:624268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1G limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 1G Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 GARD:0012531 limb-girdle muscular dystrophy type 1G Orphanet:55596 MONDO:0012198 PCWH syndrome oio:hasExactSynonym oio:hasRelatedSynonym peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 oio:hasExactSynonym oio:hasRelatedSynonym KANZAKI disease KANZAKI disease Kanzaki disease Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 OMIM:609242 KANZAKI disease Orphanet:79280 @@ -22272,7 +19877,6 @@ MONDO:0012289 myofibrillar myopathy 5 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed syndrome Orphanet:77297 Majeed syndrome OMIM:609628 MAJEED syndrome Orphanet:77297 MONDO:0012334 hereditary spastic paraplegia 29 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 29 autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 autosomal dominant spastic paraplegia type 29 Orphanet:101009 MONDO:0012345 acral peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 2 peeling skin syndrome 2 Peeling skin syndrome 2 Orphanet:263534 Acral peeling skin syndrome MONDO:Lexical, OMIM:609796 peeling skin syndrome 2 Orphanet:263534 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Orphanet:71212, MESH:C535310, OMIM:231530 SCHAD deficiency Orphanet:71212 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym short/branched-chain acyl-Coa dehydrogenase deficiency short/branched-chain acyl-Coa dehydrogenase deficiency Short/branched-chain acyl-coA dehydrogenase deficiency Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency OMIM:610006 short/branched-chain acyl-Coa dehydrogenase deficiency Orphanet:79157 MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym Pnpo deficiency Pnpo deficiency PNPO deficiency Orphanet:79096 Pyridoxal phosphate-responsive seizures OMIM:610090 Pnpo deficiency Orphanet:79096 @@ -22306,10 +19910,7 @@ MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 oio:hasExactSynonym oi MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia oio:hasExactSynonym oio:hasRelatedSynonym EBS with pyloric atresia Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia OMIM:612138 EBS with pyloric atresia Orphanet:158684 MONDO:0012824 hypomyelinating leukodystrophy 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Hsp60 chaperonopathy mitochondrial Hsp60 chaperonopathy Mitochondrial HSP60 chaperonopathy Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation OMIM:612233 mitochondrial Hsp60 chaperonopathy Orphanet:280288 MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 10q22.3q23.3 microdeletion syndrome Orphanet:276413 10q22.3q23.3 microdeletion syndrome Orphanet:276413 10q22.3q23.3 microdeletion syndrome Orphanet:276413 -MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis of infancy juvenile polyposis of infancy Juvenile polyposis of infancy Orphanet:79076 Juvenile polyposis of infancy OMIM:612242 juvenile polyposis of infancy Orphanet:79076 MONDO:0012856 Birk-Barel syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, Birk-Barel type intellectual disability, Birk-Barel type Intellectual disability, Birk-Barel type Orphanet:166108 Intellectual disability, Birk-Barel type Orphanet:166108 intellectual disability, Birk-Barel type Orphanet:166108 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome GARD:0013206 SATB2-associated syndrome Orphanet:576278 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0013206 SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym protein S acquired deficiency protein S acquired deficiency Protein S acquired deficiency Orphanet:26349 Protein S acquired deficiency Orphanet:26349 protein S acquired deficiency Orphanet:26349 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym SCD-EDS Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612350 SCD-EDS Orphanet:157965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012895 torsion dystonia 17 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT17 type primary dystonia, DYT17 type Primary dystonia, DYT17 type Orphanet:370103 Primary dystonia, DYT17 type Orphanet:370103 primary dystonia, DYT17 type Orphanet:370103 @@ -22330,8 +19931,6 @@ MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies oio:hasExactSynonym oio:hasRelatedSynonym ROIFMAN-Chitayat syndrome ROIFMAN-Chitayat syndrome Roifman-Chitayat syndrome Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies OMIM:613328 ROIFMAN-Chitayat syndrome Orphanet:221139 MONDO:0013232 brachydactylous dwarfism, Mseleni type oio:hasExactSynonym oio:hasRelatedSynonym Mseleni JOINT disease Mseleni JOINT disease Mseleni joint disease Orphanet:2619 Brachydactylous dwarfism, Mseleni type OMIM:613342 Mseleni JOINT disease Orphanet:2619 MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome Orphanet:280558 Warsaw breakage syndrome OMIM:613398 WARSAW breakage syndrome Orphanet:280558 -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Witteveen-Kolk syndrome Orphanet:500163 Witteveen-Kolk syndrome OMIM:613406 Witteveen-Kolk syndrome Orphanet:500163 -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOS Orphanet:500163 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613406 WITKOS Orphanet:500163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 ALPHA-1-antitrypsin deficiency Orphanet:60 MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 alpha-1-antitrypsin deficiency Orphanet:60 MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 @@ -22359,13 +19958,9 @@ MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency oio:hasExactSynonym oio: MONDO:0013615 craniosynostosis and dental anomalies oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-dental anomalies craniosynostosis-dental anomalies Craniosynostosis-dental anomalies Orphanet:284149 Craniosynostosis-dental anomalies Orphanet:284149 craniosynostosis-dental anomalies Orphanet:284149 MONDO:0013622 platelet-type bleeding disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to integrin alpha2-beta1 deficiency bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 MONDO:0013623 platelet-type bleeding disorder 11 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to glycoprotein VI deficiency bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris OMIM:614204 palmoplantar pustulosis Orphanet:163927 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym generalized pustular psoriasis generalized pustular psoriasis Generalized pustular psoriasis Orphanet:247353 Generalized pustular psoriasis OMIM:614204 generalized pustular psoriasis Orphanet:247353 -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym GPP Orphanet:247353 Generalized pustular psoriasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:247353, OMIM:614204 GPP Orphanet:247353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial membrane protein-associated neurodegeneration mitochondrial membrane protein-associated neurodegeneration Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical MMDS2 Orphanet:401874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym oio:hasRelatedSynonym LWNH Orphanet:79150 Linear and whorled nevoid hypermelanosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614323, MONDO:Lexical LWNH Orphanet:79150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency Orphanet:309108 Pancreatic colipase deficiency OMIM:614338 pancreatic colipase deficiency Orphanet:309108 MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome https://github.com/monarch-initiative/mondo/issues/1112 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym EMARDD Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:439212, MONDO:Lexical, OMIM:614399 EMARDD Orphanet:439212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym oio:hasBroadSynonym autosomal SLE autosomal SLE Autosomal SLE Orphanet:300345 Autosomal systemic lupus erythematosus Orphanet:300345 autosomal SLE Orphanet:300345 @@ -22374,7 +19969,6 @@ MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym CMT2G Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99941, OMIM:608591, MONDO:Lexical CMT2G Orphanet:99941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013766 familial cold autoinflammatory syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 MONDO:0013776 spastic ataxia 5 oio:hasExactSynonym oio:hasRelatedSynonym early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 -MONDO:0013781 pseudohypoaldosteronism type 2D oio:hasExactSynonym oio:hasRelatedSynonym familial hyperkalemic hypertension familial hyperkalemic hypertension Familial hyperkalemic hypertension Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:614495 familial hyperkalemic hypertension Orphanet:757 MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSynonym oio:hasRelatedSynonym Labrune syndrome Orphanet:542310 Leukoencephalopathy with calcifications and cysts OMIM:614561 Labrune syndrome Orphanet:542310 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type Multiple Enchondromatosis, Maffucci Type Orphanet:163634 Maffucci syndrome OMIM:614569 multiple enchondromatosis, Maffucci type Orphanet:163634 @@ -22406,11 +20000,9 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sam syndrome Sam syndrome SAM syndrome Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome OMIM:615508 Sam syndrome Orphanet:369992 MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym COLE disease COLE disease Cole disease Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:Lexical, OMIM:615522 COLE disease Orphanet:324561 MONDO:0014234 reticulate acropigmentation of Kitamura oio:hasExactSynonym oio:hasRelatedSynonym RAK Orphanet:178307 Reticulate acropigmentation of Kitamura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615537, MONDO:Lexical RAK Orphanet:178307 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014243 Schaaf-Yang syndrome oio:hasExactSynonym oio:hasRelatedSynonym Prader-Willi-like syndrome Orphanet:398073 Prader-Willi-like syndrome OMIM:615547 Prader-Willi-like syndrome Orphanet:398073 MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym oio:hasRelatedSynonym COASY protein-associated neurodegeneration Orphanet:397725 COASY protein-associated neurodegeneration Orphanet:397725 COASY protein-associated neurodegeneration Orphanet:397725 MONDO:0014298 chromosome 5q12 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDE4D haploinsufficiency syndrome Orphanet:439822 PDE4D haploinsufficiency syndrome Orphanet:439822 PDE4D haploinsufficiency syndrome Orphanet:439822 MONDO:0014305 hereditary spastic paraplegia 63 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 63 autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 autosomal recessive spastic paraplegia type 63 Orphanet:401805 -MONDO:0014306 vasculitis due to ADA2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym PAN Orphanet:767 Polyarteritis nodosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615688, MONDO:Lexical PAN Orphanet:767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement oio:hasExactSynonym oio:hasRelatedSynonym hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym Salih ataxia Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency OMIM:615705 Salih ataxia Orphanet:404499 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 @@ -22451,42 +20043,30 @@ MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X oio:hasExactSynonym oio MONDO:0014732 hypomyelinating leukodystrophy 12 oio:hasExactSynonym oio:hasRelatedSynonym VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 MONDO:0014735 Charcot-Marie-Tooth disease type 2Y oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2Y Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Z autosomal dominant Charcot-Marie-Tooth disease type 2Z Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESANTO-SHINAWI syndrome DESANTO-SHINAWI syndrome Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 DESANTO-SHINAWI syndrome Orphanet:466943 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 Desanto-Shinawi syndrome Orphanet:466943 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESSH Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616708 DESSH Orphanet:466943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAKENOUCHI-Kosaki syndrome TAKENOUCHI-Kosaki syndrome Takenouchi-Kosaki syndrome Orphanet:487796 Takenouchi-Kosaki syndrome OMIM:616737 TAKENOUCHI-Kosaki syndrome Orphanet:487796 MONDO:0014760 TFRC-related combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency due to TFRC deficiency combined immunodeficiency due to TFRC deficiency Combined immunodeficiency due to TFRC deficiency Orphanet:476113 Combined immunodeficiency due to TFRC deficiency Orphanet:476113 combined immunodeficiency due to TFRC deficiency Orphanet:476113 MONDO:0014803 spasticity-ataxia-gait anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym childhood-onset spasticity with hyperglycinemia childhood-onset spasticity with hyperglycinemia Childhood-onset spasticity with hyperglycinemia Orphanet:401866 Childhood-onset spasticity with hyperglycinemia Orphanet:401866 childhood-onset spasticity with hyperglycinemia Orphanet:401866 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal Charcot-Marie-Tooth disease type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T DOID:0110160 autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym AR-CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110160 AR-CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014882 hereditary spastic paraplegia 77 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 77 autosomal recessive spastic paraplegia type 77 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 autosomal recessive spastic paraplegia type 77 Orphanet:466722 MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome Thauvin-Robinet-Faivre syndrome Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome OMIM:617107 THAUVIN-robinet-Faivre syndrome Orphanet:500095 MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome OMIM:617140 Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 1 refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 1 Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 Orphanet:100019 refractory anemia with excess blasts type 1 Orphanet:100019 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 2 refractory anemia with excess blasts type 2 Refractory anemia with excess blasts type 2 Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 Orphanet:100020 refractory anemia with excess blasts type 2 Orphanet:100020 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym oio:hasRelatedSynonym reactive angioendotheliomatosis reactive angioendotheliomatosis Reactive angioendotheliomatosis Orphanet:673574 Reactive angioendotheliomatosis GARD:0009445 reactive angioendotheliomatosis Orphanet:673574 MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal neuroendocrine tumor Orphanet:100077 Jejunal neuroendocrine tumor Orphanet:100077 jejunal neuroendocrine tumor Orphanet:100077 MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal neuroendocrine tumor Orphanet:100078 Ileal neuroendocrine tumor Orphanet:100078 ileal neuroendocrine tumor Orphanet:100078 MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of appendix neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of appendix Orphanet:100079 Neuroendocrine neoplasm of appendix Orphanet:100079 neuroendocrine neoplasm of appendix Orphanet:100079 MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of anal canal neuroendocrine tumor of anal canal Neuroendocrine tumor of anal canal Orphanet:100082 Neuroendocrine tumor of anal canal Orphanet:100082 neuroendocrine tumor of anal canal Orphanet:100082 MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor laryngeal neuroendocrine tumor Laryngeal neuroendocrine tumor Orphanet:100083 Laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor Orphanet:100083 MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency Orphanet:101972 Combined T and B cell immunodeficiency Orphanet:101972 combined T and B cell immunodeficiency Orphanet:101972 -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome Orphanet:99749 Kostmann syndrome NCIT:C61242 Kostmann syndrome Orphanet:99749 MONDO:0015167 amniotic band syndrome oio:hasExactSynonym oio:hasRelatedSynonym amniotic band sequence amniotic band sequence Amniotic band sequence Orphanet:295000 Amniotic band syndrome OMIM:217100 amniotic band sequence Orphanet:295000 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita amyoplasia congenita Amyoplasia congenita Orphanet:488586 Congenital amyoplasia Orphanet:1037 amyoplasia congenita Orphanet:488586 -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia congenital amyoplasia Congenital amyoplasia Orphanet:488586 Congenital amyoplasia Orphanet:1037 congenital amyoplasia Orphanet:488586 -MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym oio:hasRelatedSynonym MAD Orphanet:2457 Mandibuloacral dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003562 MAD Orphanet:2457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome oio:hasExactSynonym oio:hasRelatedSynonym ankyloblepharon filiforme adnatum-imperforate anus syndrome ankyloblepharon filiforme adnatum-imperforate anus syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 MONDO:0015237 arrhinia oio:hasExactSynonym oio:hasRelatedSynonym isolated arrhinia isolated arrhinia Isolated arrhinia Orphanet:1134 Isolated arrhinia Orphanet:1134 isolated arrhinia Orphanet:1134 MONDO:0015241 arthrogryposis-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kuskokwim syndrome Orphanet:1149 Kuskokwim syndrome GARD:0003150 Kuskokwim syndrome Orphanet:1149 -MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym oio:hasRelatedSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans GARD:0005961 constrictive bronchiolitis Orphanet:1303 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis obliterans bronchiolitis obliterans Bronchiolitis obliterans Orphanet:1303 Bronchiolitis obliterans MONDO:ambiguous bronchiolitis obliterans Orphanet:1303 MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis obliterative bronchiolitis Obliterative bronchiolitis Orphanet:1303 Bronchiolitis obliterans Orphanet:1303, DOID:2799 obliterative bronchiolitis Orphanet:1303 MONDO:0015275 partial atrioventricular canal oio:hasExactSynonym oio:hasRelatedSynonym partial AVSD partial AVSD Partial AVSD Orphanet:1330 Partial atrioventricular septal defect GARD:0004229 partial AVSD Orphanet:1330 MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym PLCA Orphanet:137807 Primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:137807 PLCA Orphanet:137807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis Orphanet:353220 Familial primary localized cutaneous amyloidosis DOID:0050639 familial primary localized cutaneous amyloidosis Orphanet:353220 MONDO:0015387 nasolacrimal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym dacryocystocele dacryocystocele Dacryocystocele Orphanet:141083 Nasolacrimal duct cyst Orphanet:141083 dacryocystocele Orphanet:141083 MONDO:0015430 ring chromosome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 1 syndrome Orphanet:1437 Ring chromosome 1 syndrome Orphanet:1437 Ring chromosome 1 syndrome Orphanet:1437 MONDO:0015431 ring chromosome 10 oio:hasExactSynonym oio:hasRelatedSynonym Ring 10 Orphanet:1438 Ring chromosome 10 syndrome GARD:0001322 Ring 10 Orphanet:1438 @@ -22513,34 +20093,26 @@ MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym MONDO:0015448 mitochondrial complex III deficiency oio:hasExactSynonym oio:hasRelatedSynonym isolated complex III deficiency isolated complex III deficiency Isolated complex III deficiency Orphanet:1460 Isolated complex III deficiency Orphanet:1460 isolated complex III deficiency Orphanet:1460 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniodigital-intellectual disability syndrome craniodigital-intellectual disability syndrome Craniodigital-intellectual disability syndrome Orphanet:1514 Craniodigital-intellectual disability syndrome Orphanet:1514 craniodigital-intellectual disability syndrome Orphanet:1514 MONDO:0015487 fatal infantile encephalocardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile cytochrome C oxidase deficiency fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 fatal infantile cytochrome C oxidase deficiency Orphanet:1561 -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis Orphanet:540 Familial hemophagocytic lymphohistiocytosis GARD:0006589 familial hemophagocytic lymphohistiocytosis Orphanet:540 MONDO:0015610 acquired aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym rare acquired aplastic anemia rare acquired aplastic anemia Rare acquired aplastic anemia Orphanet:164823 Rare acquired aplastic anemia Orphanet:164823 rare acquired aplastic anemia Orphanet:164823 -MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis DOID:0050729 Chanarin-Dorfman syndrome Orphanet:98907 MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Orphanet:166 MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep oio:hasExactSynonym oio:hasRelatedSynonym benign infantile focal epilepsy with midline spikes and waves during sleep benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 MONDO:0015645 eating seizures oio:hasExactSynonym oio:hasRelatedSynonym eating reflex epilepsy eating reflex epilepsy Eating reflex epilepsy Orphanet:166418 Eating reflex epilepsy Orphanet:166418 eating reflex epilepsy Orphanet:166418 -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym lichen myxedematosus lichen myxedematosus Lichen myxedematosus Orphanet:402007 Lichen myxedematosus MESH:D053718 lichen myxedematosus Orphanet:402007 -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus MESH:D053718 papular mucinosis Orphanet:86795 -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute myeloid leukemia Orphanet:519 Acute myeloid leukemia NCIT:C27753 acute myeloid leukemia Orphanet:519 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 14 Orphanet:1703 Mosaic trisomy 14 GARD:0001327 Mosaic trisomy chromosome 14 Orphanet:1703 MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 mosaicism Orphanet:1703 Mosaic trisomy 14 GARD:0001327 trisomy 14 mosaicism Orphanet:1703 MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 7 Orphanet:1747 Mosaic trisomy 7 GARD:0005354 Mosaic trisomy chromosome 7 Orphanet:1747 MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 7 mosaicism trisomy 7 mosaicism Trisomy 7 mosaicism Orphanet:1747 Mosaic trisomy 7 GARD:0005354 trisomy 7 mosaicism Orphanet:1747 -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome Orphanet:3322 Hoyeraal-Hreidarsson syndrome GARD:0010905 Hoyeraal-Hreidarsson syndrome Orphanet:3322 MONDO:0015830 partial bilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym partial bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the Müllerian ducts Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 partial bilateral aplasia of the Müllerian ducts Orphanet:180068 MONDO:0015831 unilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym unilateral aplasia of the Müllerian ducts unilateral aplasia of the Müllerian ducts Unilateral aplasia of the Müllerian ducts Orphanet:180071 Unilateral aplasia of the Müllerian ducts Orphanet:180071 unilateral aplasia of the Müllerian ducts Orphanet:180071 MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal malignant epithelial tumor vaginal malignant epithelial tumor Vaginal malignant epithelial tumor Orphanet:180247 Vaginal carcinoma Orphanet:180247 vaginal malignant epithelial tumor Orphanet:180247 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Orphanet:180275 Paget disease of the nipple Orphanet:180275 Paget disease of the breast Orphanet:180275 MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym mammary Paget disease mammary Paget disease Mammary Paget disease Orphanet:180275 Paget disease of the nipple Orphanet:180275 mammary Paget disease Orphanet:180275 -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia Orphanet:418 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia congenital adrenal hyperplasia Orphanet:418 MONDO:0015905 syndromic dyslipidemia oio:hasExactSynonym oio:hasRelatedSynonym rare syndromic dyslipidemia rare syndromic dyslipidemia Rare syndromic dyslipidemia Orphanet:181437 Rare syndromic dyslipidemia Orphanet:181437 rare syndromic dyslipidemia Orphanet:181437 MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogenodermatosis photogenodermatosis Photogenodermatosis Orphanet:183490 Genetic photodermatosis Orphanet:183490 photogenodermatosis Orphanet:183490 MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogénodermatose photogénodermatose Photogénodermatose Orphanet:183490 Genetic photodermatosis Orphanet:183490 photogénodermatose Orphanet:183490 MONDO:0015962 inherited renal tubular disease oio:hasExactSynonym oio:hasRelatedSynonym genetic renal tubular disease genetic renal tubular disease Genetic renal tubular disease Orphanet:183592 Genetic renal tubular disease Orphanet:183592 genetic renal tubular disease Orphanet:183592 MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym renal agenesis, bilateral renal agenesis, bilateral Renal agenesis, bilateral Orphanet:1848 Renal agenesis, bilateral Orphanet:1848 renal agenesis, bilateral Orphanet:1848 -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency Orphanet:247525 Citrullinemia type I DOID:9273 ass deficiency Orphanet:247525 MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym oio:hasRelatedSynonym cone rod dystrophy cone rod dystrophy Cone rod dystrophy Orphanet:1872 Cone rod dystrophy Orphanet:1872 cone rod dystrophy Orphanet:1872 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym EDS VIA Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 EDS VIA Orphanet:1900 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome type 6A Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 Ehlers-Danlos syndrome type 6A Orphanet:1900 @@ -22555,16 +20127,12 @@ MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSy MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the vagina malignant germ cell tumor of the vagina Malignant germ cell tumor of the vagina Orphanet:206489 Malignant germ cell tumor of the vagina Orphanet:206489 malignant germ cell tumor of the vagina Orphanet:206489 MONDO:0016095 vaginal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vulvovaginal rhabdomyosarcoma vulvovaginal rhabdomyosarcoma Vulvovaginal rhabdomyosarcoma Orphanet:206492 Vulvovaginal rhabdomyosarcoma Orphanet:206492 vulvovaginal rhabdomyosarcoma Orphanet:206492 MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease Orphanet:206575 Rippling muscle disease with myasthenia gravis Orphanet:206575 acquired rippling muscle disease Orphanet:206575 -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan oio:hasExactSynonym oio:hasNarrowSynonym gamma-sarcoglycanopathy gamma-sarcoglycanopathy Gamma-sarcoglycanopathy Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORCID:0000-0002-6601-2165 gamma-sarcoglycanopathy Orphanet:353 MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016207 phacoanaphylactic uveitis oio:hasExactSynonym oio:hasRelatedSynonym lens-induced iridocyclitis lens-induced iridocyclitis Lens-induced iridocyclitis Orphanet:209959 Phacoanaphylactic uveitis Orphanet:209959 lens-induced iridocyclitis Orphanet:209959 MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym benign nocturnal alternating hemiplegia of childhood benign nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 benign nocturnal alternating hemiplegia of childhood Orphanet:209973 MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym oio:hasRelatedSynonym inherited congenital spastic tetraplegia inherited congenital spastic tetraplegia Inherited congenital spastic tetraplegia Orphanet:210141 Inherited congenital spastic tetraplegia Orphanet:210141 inherited congenital spastic tetraplegia Orphanet:210141 MONDO:0016217 mal de Debarquement oio:hasExactSynonym oio:hasRelatedSynonym Mal de débarquement Orphanet:210272 Mal de débarquement Orphanet:210272 Mal de débarquement Orphanet:210272 -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome Orphanet:84142 Isaacs syndrome DOID:963 Isaacs syndrome Orphanet:84142 MONDO:0016231 capillary malformation oio:hasExactSynonym oio:hasRelatedSynonym rare capillary malformation rare capillary malformation Rare capillary malformation Orphanet:211247 Rare capillary malformation Orphanet:211247 rare capillary malformation Orphanet:211247 -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia Orphanet:209978 Alternating hemiplegia GARD:0000011 alternating hemiplegia Orphanet:209978 MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym malignant mixed epithelial and mesenchymal tumor of corpus uteri malignant mixed epithelial and mesenchymal tumor of corpus uteri Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasNarrowSynonym mixed epithelial and mesenchymal cancer of corpus uteri mixed epithelial and mesenchymal cancer of corpus uteri Mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 MONDO:0016258 uterine corpus carcinofibroma oio:hasExactSynonym oio:hasRelatedSynonym Carcinofibroma of the corpus uteri Orphanet:213605 Carcinofibroma of the corpus uteri Orphanet:213605 Carcinofibroma of the corpus uteri Orphanet:213605 @@ -22576,9 +20144,7 @@ MONDO:0016267 undifferentiated carcinoma of the corpus uteri oio:hasExactSynonym MONDO:0016272 transitional cell carcinoma of the corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym endometrial transitional cell carcinoma endometrial transitional cell carcinoma Endometrial transitional cell carcinoma Orphanet:213746 Transitional cell carcinoma of the corpus uteri Orphanet:213746 endometrial transitional cell carcinoma Orphanet:213746 MONDO:0016273 malignant germ cell tumor of corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the corpus uteri malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the corpus uteri Orphanet:213751 Malignant germ cell tumor of the corpus uteri Orphanet:213751 malignant germ cell tumor of the corpus uteri Orphanet:213751 MONDO:0016289 malignant germ cell tumor of cervix uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the cervix uteri malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the cervix uteri Orphanet:213837 Malignant germ cell tumor of the cervix uteri Orphanet:213837 malignant germ cell tumor of the cervix uteri Orphanet:213837 -MONDO:0016333 familial dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000221 DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis Orphanet:221 Dermatomyositis Orphanet:221, GARD:0006263 adult dermatomyositis Orphanet:221 -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis Orphanet:645617 Amyopathic dermatomyositis DOID:10223, MESH:C538250 Amyopathic dermatomyositis Orphanet:645617 MONDO:0016370 Marchiafava-Bignami disease oio:hasExactSynonym oio:hasRelatedSynonym MBD Orphanet:221074 Marchiafava-Bignami disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006971 MBD Orphanet:221074 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016374 cranial neuralgia oio:hasExactSynonym oio:hasNarrowSynonym facial neuralgia facial neuralgia Facial neuralgia Orphanet:221109 Cranial neuralgia Orphanet:221109 facial neuralgia Orphanet:221109 MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Baló concentric sclerosis Orphanet:228165 Baló concentric sclerosis GARD:0005885 Baló concentric sclerosis Orphanet:228165 @@ -22588,18 +20154,13 @@ MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSyno MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal-cervical-brachial variant of Guillain-Barré syndrome pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 MONDO:0016497 paraparetic variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym paraparetic variant of Guillain-Barré syndrome paraparetic variant of Guillain-Barré syndrome Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 paraparetic variant of Guillain-Barré syndrome Orphanet:231445 MONDO:0016505 aldosterone-producing adrenal cortex adenoma oio:hasExactSynonym oio:hasRelatedSynonym adrenocortical carcinoma with pure aldosterone hypersecretion adrenocortical carcinoma with pure aldosterone hypersecretion Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hoffman syndrome Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Orphanet:2349 Hoffman syndrome Orphanet:567502 MONDO:0016528 limb body wall complex oio:hasExactSynonym oio:hasRelatedSynonym body stalk anomaly body stalk anomaly Body stalk anomaly Orphanet:2369 Limb body wall complex GARD:0003251 body stalk anomaly Orphanet:2369 MONDO:0016576 split hand-foot malformation oio:hasExactSynonym oio:hasRelatedSynonym isolated split hand-split foot malformation isolated split hand-split foot malformation Isolated split hand-split foot malformation Orphanet:2440 Isolated split hand-split foot malformation Orphanet:2440 isolated split hand-split foot malformation Orphanet:2440 -MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym conotruncal anomaly face syndrome conotruncal anomaly face syndrome Conotruncal anomaly face syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:217095 conotruncal anomaly face syndrome Orphanet:567 -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Orphanet:98850 Aggressive systemic mastocytosis GARD:0008616 Aggressive systemic mastocytosis Orphanet:98850 MONDO:0016639 lower limb deficiency-hypospadias syndrome oio:hasExactSynonym oio:hasRelatedSynonym lower limb malformation-hypospadias syndrome lower limb malformation-hypospadias syndrome Lower limb malformation-hypospadias syndrome Orphanet:2487 Lower limb malformation-hypospadias syndrome Orphanet:2487 lower limb malformation-hypospadias syndrome Orphanet:2487 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring 5 Orphanet:251043 Ring chromosome 5 syndrome GARD:0010841 Ring 5 Orphanet:251043 MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 5 syndrome Orphanet:251043 Ring chromosome 5 syndrome Orphanet:251043 Ring chromosome 5 syndrome Orphanet:251043 MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly Orphanet:2512 true microcephaly Orphanet:2512 MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-grade astrocytoma Orphanet:251561 High-grade astrocytoma Orphanet:251561 high-grade astrocytoma Orphanet:251561 -MONDO:0016692 pilomyxoid astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym PMA Orphanet:454706 Progressive muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PMA PMA Orphanet:454706 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial tumor Orphanet:46484 Oligodendroglial tumor DOID:3181, NCIT:C6960 oligodendroglial tumor Orphanet:46484 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 CNS PNET Orphanet:251870 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central nervous system primitive neuroectodermal tumor Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 central nervous system primitive neuroectodermal tumor Orphanet:251870 MONDO:0016745 diffuse leptomeningeal melanocytosis oio:hasExactSynonym oio:hasBroadSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis Orphanet:252031 Diffuse leptomeningeal melanocytosis Orphanet:252031 leptomeningeal melanomatosis Orphanet:252031 @@ -22609,24 +20170,14 @@ MONDO:0016750 microcephaly-cleft palate syndrome oio:hasExactSynonym oio:hasRela MONDO:0016814 maternally-inherited Leigh syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA-associated Leigh syndrome mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-associated Leigh syndrome Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome GARD:0003671 mitochondrial DNA-associated Leigh syndrome Orphanet:255210 MONDO:0016828 autosomal recessive sideroblastic anemia oio:hasExactSynonym oio:hasBroadSynonym congenital sideroblastic anemia congenital sideroblastic anemia Congenital sideroblastic anemia Orphanet:260305 Autosomal recessive sideroblastic anemia Orphanet:260305 congenital sideroblastic anemia Orphanet:260305 MONDO:0016853 ring chromosome Y oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome Y syndrome Orphanet:261529 Ring chromosome Y syndrome Orphanet:261529 Ring chromosome Y syndrome Orphanet:261529 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym Alagille-Watson syndrome Orphanet:52 Alagille syndrome OMIM:118450 Alagille-Watson syndrome Orphanet:52 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym arteriohepatic dysplasia arteriohepatic dysplasia Arteriohepatic dysplasia Orphanet:52 Alagille syndrome OMIM:118450 arteriohepatic dysplasia Orphanet:52 -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym Duplication 8p Orphanet:264450 Trisomy 8p GARD:0005361 Duplication 8p Orphanet:264450 -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8p trisomy 8p Trisomy 8p Orphanet:264450 Trisomy 8p GARD:0005361 trisomy 8p Orphanet:264450 MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III oio:hasExactSynonym oio:hasNarrowSynonym Taybi-Linder syndrome Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III Orphanet:2636 Taybi-Linder syndrome Orphanet:2636 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida Orphanet:268369 Open spinal dysraphism MESH:D016137 open spina bifida Orphanet:268369 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta Orphanet:268369 Open spinal dysraphism MESH:D016137 spina bifida aperta Orphanet:268369 -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele Orphanet:93969 Open spinal dysraphism with a myelomeningocele NCIT:C101201 myelomeningocele Orphanet:93969 MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial meningocele Orphanet:268820 Cranial meningocele Orphanet:268820 cranial meningocele Orphanet:268820 MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym oio:hasRelatedSynonym Opitz BBBG syndrome Orphanet:2745 Opitz GBBB syndrome GARD:0000193 Opitz BBBG syndrome Orphanet:2745 MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym imperforate oropharynx-costovertebral anomalies syndrome imperforate oropharynx-costovertebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasNarrowSynonym familial osteochondritis dissecans familial osteochondritis dissecans Familial osteochondritis dissecans Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 familial osteochondritis dissecans Orphanet:251262 -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis dissecans and short stature osteochondritis dissecans and short stature Osteochondritis dissecans and short stature Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 osteochondritis dissecans and short stature Orphanet:251262 MONDO:0017198 osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym osteopetrosis and related disorders osteopetrosis and related disorders Osteopetrosis and related disorders Orphanet:2781 Osteopetrosis and related disorders Orphanet:2781 osteopetrosis and related disorders Orphanet:2781 MONDO:0017267 self-healing collodion baby oio:hasExactSynonym oio:hasRelatedSynonym self-improving collodion baby self-improving collodion baby Self-improving collodion baby Orphanet:281122 Self-improving collodion baby Orphanet:281122 self-improving collodion baby Orphanet:281122 MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection echinococcus multilocularis infection Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis DOID:12148 echinococcus multilocularis infection Orphanet:284 -MONDO:0017304 ocular albinism oio:hasExactSynonym oio:hasNarrowSynonym XLOA Orphanet:54 X-linked recessive ocular albinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:54 XLOA Orphanet:54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vEDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vEDS Orphanet:286 MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular EDS vascular EDS Vascular EDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vascular EDS Orphanet:286 MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular Ehlers-Danlos syndrome vascular Ehlers-Danlos syndrome Vascular Ehlers-Danlos syndrome Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 vascular Ehlers-Danlos syndrome Orphanet:286 @@ -22635,28 +20186,21 @@ MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism oio:hasExac MONDO:0017362 neuralgic amyotrophy oio:hasExactSynonym oio:hasBroadSynonym brachial plexus neuritis brachial plexus neuritis Brachial plexus neuritis Orphanet:2901 Neuralgic amyotrophy Orphanet:2901 brachial plexus neuritis Orphanet:2901 MONDO:0017363 idiopathic chronic eosinophilic pneumonia oio:hasExactSynonym oio:hasBroadSynonym chronic eosinophilic pneumonia chronic eosinophilic pneumonia Chronic eosinophilic pneumonia Orphanet:2902 Idiopathic chronic eosinophilic pneumonia Orphanet:2902 chronic eosinophilic pneumonia Orphanet:2902 MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:579 Mucopolysaccharidosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 MPSI Orphanet:579 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 MONDO:0017456 central polydactyly of fingers oio:hasExactSynonym oio:hasRelatedSynonym central polydactyly central polydactyly Central polydactyly Orphanet:295004 Central polydactyly Orphanet:295004 central polydactyly Orphanet:295004 MONDO:0017469 congenital elbow dislocation oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital radial head dislocation isolated congenital radial head dislocation Isolated congenital radial head dislocation Orphanet:295032 Isolated congenital radial head dislocation Orphanet:295032 isolated congenital radial head dislocation Orphanet:295032 MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, de Barsy type progeroid syndrome, de Barsy type Progeroid syndrome, De Barsy type Orphanet:2962 De Barsy syndrome GARD:0000049 progeroid syndrome, de Barsy type Orphanet:2962 MONDO:0017570 leukocyte adhesion deficiency oio:hasExactSynonym oio:hasBroadSynonym LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2968 LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy oio:hasExactSynonym oio:hasRelatedSynonym oculogastrointestinal muscular dystrophy oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy Orphanet:1876 Oculogastrointestinal muscular dystrophy GARD:0009920 oculogastrointestinal muscular dystrophy Orphanet:1876 MONDO:0017588 nail tumor oio:hasExactSynonym oio:hasRelatedSynonym rare nail tumor rare nail tumor Rare nail tumor Orphanet:300515 Rare nail tumor Orphanet:300515 rare nail tumor Orphanet:300515 MONDO:0017617 acquired adult-onset immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies GARD:0011992 adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Orphanet:306431 MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stoll-Géraudel-Chauvin syndrome Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome GARD:0003514 Stoll-Géraudel-Chauvin syndrome Orphanet:3074 MONDO:0017686 inborn aminoacylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym aminoacylase deficiency aminoacylase deficiency Aminoacylase deficiency Orphanet:308448 Aminoacylase deficiency Orphanet:308448 aminoacylase deficiency Orphanet:308448 -MONDO:0017705 congenital pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome GARD:0004599 scimitar syndrome Orphanet:185 MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation oio:hasExactSynonym oio:hasRelatedSynonym disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 MONDO:0017764 disorder of zinc metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of zinc metabolism and transport disorder of zinc metabolism and transport Disorder of zinc metabolism and transport Orphanet:309845 Disorder of zinc metabolism and transport Orphanet:309845 disorder of zinc metabolism and transport Orphanet:309845 MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma Orphanet:55881 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma adamantinoma Orphanet:55881 MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma Orphanet:3148 Malignant peripheral nerve sheath tumor NCIT:C3798, Orphanet:3148 neurofibrosarcoma Orphanet:3148 MONDO:0017836 erythrokeratoderma en cocardes oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratoderma ''en cocardes'' erythrokeratoderma ''en cocardes'' Erythrokeratoderma ''en cocardes'' Orphanet:315 Erythrokeratoderma ''en cocardes'' Orphanet:315 erythrokeratoderma ''en cocardes'' Orphanet:315 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis extremitatum hereditaria progrediens keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096 keratosis extremitatum hereditaria progrediens Orphanet:495 -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris transgrediens et progrediens keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens et progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096, MESH:C536154, OMIM:133200 keratosis palmoplantaris transgrediens et progrediens Orphanet:495 MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Orphanet:318 Acute erythroid leukemia Orphanet:318 Erythroleukemia Orphanet:318 -MONDO:0017865 congenital pulmonary valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular pulmonary stenosis valvular pulmonary stenosis Valvular pulmonary stenosis Orphanet:99054 Valvular pulmonary stenosis GARD:0004596 valvular pulmonary stenosis Orphanet:99054 MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey disease monkey disease Monkey disease Orphanet:319254 Kyasanur forest disease Orphanet:319254 monkey disease Orphanet:319254 MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey fever monkey fever Monkey fever Orphanet:319254 Kyasanur forest disease Orphanet:319254 monkey fever Orphanet:319254 MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym bladder exstrophy-epispadias-cloacal extrophy complex bladder exstrophy-epispadias-cloacal extrophy complex Bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 Exstrophy-epispadias complex Orphanet:322 bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 @@ -22671,63 +20215,39 @@ MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malign MONDO:0018097 West syndrome oio:hasExactSynonym oio:hasRelatedSynonym Infantile spasms syndrome Orphanet:3451 Infantile spasms syndrome DOID:0050562 Infantile spasms syndrome Orphanet:3451 MONDO:0018141 pyruvate carboxylase deficiency, infantile form oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency, infantile type pyruvate carboxylase deficiency, infantile type Pyruvate carboxylase deficiency, infantile type Orphanet:353308 Pyruvate carboxylase deficiency, infantile type Orphanet:353308 pyruvate carboxylase deficiency, infantile type Orphanet:353308 MONDO:0018148 vasoproliferative tumor of retina oio:hasExactSynonym oio:hasRelatedSynonym vasoproliferative tumor of the retina vasoproliferative tumor of the retina Vasoproliferative tumor of the retina Orphanet:353356 Vasoproliferative tumor of the retina Orphanet:353356 vasoproliferative tumor of the retina Orphanet:353356 -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym oio:hasNarrowSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic cerebellar degeneration Orphanet:623626 Paraneoplastic cerebellar degeneration Orphanet:36388 paraneoplastic cerebellar degeneration Orphanet:623626 -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema multiforme major Orphanet:502499 Erythema multiforme major NCIT:C79484 erythema multiforme major Orphanet:502499 MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy due to dystroglycanopathy congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym oio:hasRelatedSynonym hepatic cystic hamartoma hepatic cystic hamartoma Hepatic cystic hamartoma Orphanet:386 Hepatic cystic hamartoma Orphanet:386 hepatic cystic hamartoma Orphanet:386 -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis Orphanet:391504 Transient neonatal myasthenia gravis Orphanet:391504 neonatal myasthenia gravis Orphanet:391504 MONDO:0018371 nebulin-related early-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym distal nebulin myopathy distal nebulin myopathy Distal nebulin myopathy Orphanet:399103 Distal nebulin myopathy Orphanet:399103 distal nebulin myopathy Orphanet:399103 MONDO:0018424 inherited lipoic acid biosynthesis defect oio:hasExactSynonym oio:hasRelatedSynonym lipoic acid biosynthesis defect lipoic acid biosynthesis defect Lipoic acid biosynthesis defect Orphanet:401854 Lipoic acid biosynthesis defect Orphanet:401854 lipoic acid biosynthesis defect Orphanet:401854 -MONDO:0018432 lichen myxedematosus oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus https://www.dermnetnz.org/topics/lichen-myxoedematosus/ papular mucinosis Orphanet:86795 MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-pancreatic cancer syndrome Orphanet:404560 Familial atypical multiple mole melanoma syndrome Orphanet:404560 melanoma-pancreatic cancer syndrome Orphanet:404560 MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FBHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 FHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym dysbetalipoproteinemia dysbetalipoproteinemia Dysbetalipoproteinemia Orphanet:412 Dysbetalipoproteinemia GARD:0006703 dysbetalipoproteinemia Orphanet:412 -MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym kernicterus spectrum disorder kernicterus spectrum disorder Kernicterus spectrum disorder Orphanet:529808 Chronic bilirubin encephalopathy Orphanet:415286 kernicterus spectrum disorder Orphanet:529808 -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital syndrome Orphanet:181412 Adrenogenital syndrome NCIT:C34360 adrenogenital syndrome Orphanet:181412 MONDO:0018510 small intestine neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of the small intestine neuroendocrine tumor of the small intestine Neuroendocrine tumor of the small intestine Orphanet:423975 Neuroendocrine tumor of the small intestine Orphanet:423975 neuroendocrine tumor of the small intestine Orphanet:423975 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenocarcinoma of the pancreas mucinous cystadenocarcinoma of the pancreas Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 mucinous cystadenocarcinoma of the pancreas Orphanet:424053 MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic mucinous cystadenocarcinoma Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 pancreatic mucinous cystadenocarcinoma Orphanet:424053 MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid pseudopapillary neoplasm of the pancreas Orphanet:424065 Solid pseudopapillary carcinoma of pancreas Orphanet:424065 solid pseudopapillary neoplasm of the pancreas Orphanet:424065 -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Orphanet:560 Marshall syndrome NCIT:C116917 Marshall syndrome Orphanet:560 -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym isolated congenital gonadotropin deficiency isolated congenital gonadotropin deficiency Isolated congenital gonadotropin deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism DOID:0090070 isolated congenital gonadotropin deficiency Orphanet:238666 -MONDO:0018686 acquired Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym sporadic CJD sporadic CJD Sporadic CJD Orphanet:204 Sporadic Creutzfeldt-Jakob disease MESH:C538481 sporadic CJD Orphanet:204 MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym oio:hasRelatedSynonym isolated tracheoesophageal fistula isolated tracheoesophageal fistula Isolated tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula Orphanet:454750 isolated tracheoesophageal fistula Orphanet:454750 MONDO:0018740 drug-induced methemoglobinemia oio:hasExactSynonym oio:hasBroadSynonym acquired methemoglobinemia acquired methemoglobinemia Acquired methemoglobinemia Orphanet:464453 Acquired methemoglobinemia MONDO:patterns/acquired, Orphanet:464453 acquired methemoglobinemia Orphanet:464453 MONDO:0018767 severe primary trimethylaminuria oio:hasExactSynonym oio:hasRelatedSynonym TMAU Orphanet:468726 Severe primary trimethylaminuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602079, MONDO:Lexical TMAU Orphanet:468726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria Orphanet:47045 Familial cold urticaria Orphanet:47045 familial cold urticaria Orphanet:47045 MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym USP18 deficiency Orphanet:481665 USP18 deficiency Orphanet:481665 USP18 deficiency Orphanet:481665 -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia Orphanet:675396 Epithelioid hemangioma GARD:0006835 angiolymphoid hyperplasia with eosinophilia Orphanet:675396 MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym oio:hasBroadSynonym isolated CHF isolated CHF Isolated CHF Orphanet:485426 Isolated congenital hepatic fibrosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:485426 isolated CHF Orphanet:485426 -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal carcinoma Orphanet:180226 Embryonal carcinoma ONCOTREE:BEC embryonal carcinoma Orphanet:180226 -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym ulerythema ophryogenesis ulerythema ophryogenesis Ulerythema ophryogenesis Orphanet:3406 Ulerythema ophryogenesis MESH:C537412 ulerythema ophryogenesis Orphanet:3406 MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aicardi-Goutières syndrome Orphanet:51 Aicardi-Goutières syndrome Orphanet:51 Aicardi-Goutières syndrome Orphanet:51 MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasNarrowSynonym systemic vasculitis systemic vasculitis Systemic vasculitis Orphanet:52759 Vasculitis Orphanet:52759 systemic vasculitis Orphanet:52759 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital generalized lipodystrophy Orphanet:528 Congenital generalized lipodystrophy NCIT:C84594 congenital generalized lipodystrophy Orphanet:528 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes Orphanet:528 Congenital generalized lipodystrophy Orphanet:528 lipoatrophic diabetes Orphanet:528 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Orphanet:79086 Acquired generalized lipodystrophy NCIT:C84594 Lawrence-Seip syndrome Orphanet:79086 MONDO:0018914 hypotrichosis simplex oio:hasExactSynonym oio:hasNarrowSynonym hereditary hypotrichosis simplex hereditary hypotrichosis simplex Hereditary hypotrichosis simplex Orphanet:55654 Hypotrichosis simplex Orphanet:55654 hereditary hypotrichosis simplex Orphanet:55654 -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia Orphanet:93276 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 polyostotic fibrous dysplasia Orphanet:93276 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence Orphanet:567 22q11.2 deletion syndrome Orphanet:567 DiGeorge sequence Orphanet:567 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 DiGeorge syndrome Orphanet:567 MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 velocardiofacial syndrome Orphanet:567 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym ML 3 Alpha/Beta ML 3 Alpha/Beta ML 3 alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta OMIM:252600 ML 3 Alpha/Beta Orphanet:423461 MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type III alpha/beta mucolipidosis type III alpha/beta Mucolipidosis type III alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta Orphanet:423461 mucolipidosis type III alpha/beta Orphanet:423461 MONDO:0018935 hairy cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym classic hairy cell leukemia classic hairy cell leukemia Classic hairy cell leukemia Orphanet:58017 Classic hairy cell leukemia Orphanet:58017 classic hairy cell leukemia Orphanet:58017 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIA Orphanet:79269 Sanfilippo syndrome type A DOID:12801 mucopolysaccharidosis type IIIA Orphanet:79269 -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIB Orphanet:79270 Sanfilippo syndrome type B DOID:12801 mucopolysaccharidosis type IIIB Orphanet:79270 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 galactosamine-6-sulfatase deficiency Orphanet:309297 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVA Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 mucopolysaccharidosis type IVA Orphanet:309297 -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis type IVB Orphanet:309310 Mucopolysaccharidosis type 4B DOID:12804 mucopolysaccharidosis type IVB Orphanet:309310 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform mole Orphanet:99927 Hydatidiform mole DOID:3590 hydatidiform mole Orphanet:99927 -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy Orphanet:99927 Hydatidiform mole NCIT:C3110, DOID:3590 molar pregnancy Orphanet:99927 MONDO:0018951 distal myopathy with vocal cord weakness oio:hasExactSynonym oio:hasRelatedSynonym vocal cord and pharyngeal distal myopathy vocal cord and pharyngeal distal myopathy Vocal cord and pharyngeal distal myopathy Orphanet:600 Vocal cord and pharyngeal distal myopathy Orphanet:600 vocal cord and pharyngeal distal myopathy Orphanet:600 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans Orphanet:99734 Myotonia fluctuans OMIM:608390 Myotonia Fluctuans Orphanet:99734 -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens Orphanet:99735 Myotonia permanens OMIM:608390 Myotonia Permanens Orphanet:99735 MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Orphanet:636 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 Von Recklinghausen disease Orphanet:636 -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome NCIT:C3273 neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 MONDO:0018993 Charcot-Marie-Tooth disease type 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 MONDO:0018994 Charcot-Marie-Tooth disease type X oio:hasExactSynonym oio:hasRelatedSynonym X-linked Charcot-Marie-Tooth disease Orphanet:64747 X-linked Charcot-Marie-Tooth disease Orphanet:64747 X-linked Charcot-Marie-Tooth disease Orphanet:64747 MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical SCAR1 Orphanet:64753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22738,16 +20258,12 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym oio:hasRelatedSyno MONDO:0019060 bone neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rare bone tumor rare bone tumor Rare bone tumor Orphanet:68411 Rare bone tumor Orphanet:68411 rare bone tumor Orphanet:68411 MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile duct cancer Orphanet:70567 Cholangiocarcinoma Orphanet:70567 bile duct cancer Orphanet:70567 MONDO:0019128 mullerian aplasia oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia Orphanet:73217 Müllerian aplasia Orphanet:73217 Müllerian aplasia Orphanet:73217 -MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin and heme metabolism disorder of porphyrin and heme metabolism Disorder of porphyrin and heme metabolism Orphanet:309813 Disorder of porphyrin and heme metabolism DOID:13268 disorder of porphyrin and heme metabolism Orphanet:309813 MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria porphyria Porphyria Orphanet:738 Porphyria DOID:13268 porphyria Orphanet:738 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein C deficiency severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Orphanet:275761 Lysosomal acid lipase deficiency NCIT:C61271 lysosomal acid lipase deficiency Orphanet:275761 MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS Orphanet:754 Androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical AIS Orphanet:754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Orphanet:376 Gordon syndrome NCIT:C123252 Gordon syndrome Orphanet:376 MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid and other organic acid metabolism disorder of amino acid and other organic acid metabolism Disorder of amino acid and other organic acid metabolism Orphanet:79062 Disorder of amino acid and other organic acid metabolism Orphanet:79062 disorder of amino acid and other organic acid metabolism Orphanet:79062 MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary inclusion body myopathy type 3 Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome GARD:0009494 Hereditary inclusion body myopathy type 3 Orphanet:79091 -MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym MFS Orphanet:558 Marfan syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:MFS MFS Orphanet:558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of carbohydrate metabolism disorder of carbohydrate metabolism Disorder of carbohydrate metabolism Orphanet:79161 Disorder of carbohydrate metabolism Orphanet:79161 disorder of carbohydrate metabolism Orphanet:79161 MONDO:0019216 inborn disorder of amino acid transport oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid absorption and transport disorder of amino acid absorption and transport Disorder of amino acid absorption and transport Orphanet:79166 Disorder of amino acid absorption and transport Orphanet:79166 disorder of amino acid absorption and transport Orphanet:79166 MONDO:0019218 inborn disorder of bile acid synthesis oio:hasExactSynonym oio:hasRelatedSynonym disorder of bile acid synthesis disorder of bile acid synthesis Disorder of bile acid synthesis Orphanet:79168 Disorder of bile acid synthesis Orphanet:79168 disorder of bile acid synthesis Orphanet:79168 @@ -22759,7 +20275,6 @@ MONDO:0019229 inborn disorder of ketolysis oio:hasExactSynonym oio:hasBroadSynon MONDO:0019230 inborn disorder of ornithine or proline metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of ornithine or proline metabolism disorder of ornithine or proline metabolism Disorder of ornithine or proline metabolism Orphanet:79185 Disorder of ornithine or proline metabolism Orphanet:79185 disorder of ornithine or proline metabolism Orphanet:79185 MONDO:0019231 inborn disorder of pentose phosphate metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pentose phosphate metabolism disorder of pentose phosphate metabolism Disorder of pentose phosphate metabolism Orphanet:79186 Disorder of pentose phosphate metabolism Orphanet:79186 disorder of pentose phosphate metabolism Orphanet:79186 MONDO:0019232 inborn disorder of peptide metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of peptide metabolism disorder of peptide metabolism Disorder of peptide metabolism Orphanet:79187 Disorder of peptide metabolism Orphanet:79187 disorder of peptide metabolism Orphanet:79187 -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome cerebrohepatorenal syndrome Cerebrohepatorenal syndrome Orphanet:912 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 cerebrohepatorenal syndrome Orphanet:912 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of phenylalanin or tyrosine metabolism disorder of phenylalanin or tyrosine metabolism Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 disorder of phenylalanin or tyrosine metabolism Orphanet:79190 MONDO:0019236 inborn disorder of purine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine metabolism disorder of purine metabolism Disorder of purine metabolism Orphanet:79191 Disorder of purine metabolism Orphanet:79191 disorder of purine metabolism Orphanet:79191 MONDO:0019237 inborn disorder of pyridoxine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pyridoxine metabolism disorder of pyridoxine metabolism Disorder of pyridoxine metabolism Orphanet:79192 Disorder of pyridoxine metabolism Orphanet:79192 disorder of pyridoxine metabolism Orphanet:79192 @@ -22772,22 +20287,16 @@ MONDO:0019250 inborn disorder of biogenic amine metabolism and transport oio:has MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine or pyrimidine metabolism disorder of purine or pyrimidine metabolism Disorder of purine or pyrimidine metabolism Orphanet:79224 Disorder of purine or pyrimidine metabolism Orphanet:79224 disorder of purine or pyrimidine metabolism Orphanet:79224 MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym oio:hasRelatedSynonym isolated nail anomaly isolated nail anomaly Isolated nail anomaly Orphanet:79369 Isolated nail anomaly Orphanet:79369 isolated nail anomaly Orphanet:79369 MONDO:0019303 premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym premature aging premature aging Premature aging Orphanet:79389 Premature aging Orphanet:79389 premature aging Orphanet:79389 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis Orphanet:313 Lamellar ichthyosis DOID:1699 lamellar ichthyosis Orphanet:313 MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym oio:hasBroadSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79456 DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma Orphanet:79490 Microcystic lymphatic malformation Orphanet:79490 capillary lymphangioma Orphanet:79490 MONDO:0019357 congenital narrowing of cervical spinal canal oio:hasExactSynonym oio:hasRelatedSynonym congenital cervical spinal stenosis congenital cervical spinal stenosis Congenital cervical spinal stenosis Orphanet:831 Congenital cervical spinal stenosis Orphanet:831 congenital cervical spinal stenosis Orphanet:831 -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy reflex sympathetic dystrophy Reflex sympathetic dystrophy Orphanet:99995 Complex regional pain syndrome type 1 GARD:0004647 reflex sympathetic dystrophy Orphanet:99995 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto encephalitis Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Orphanet:83601 Hashimoto encephalitis Orphanet:83601 MONDO:0019386 progressive rubella panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym rubella panencephalitis rubella panencephalitis Rubella panencephalitis Orphanet:83616 Rubella panencephalitis rubella panencephalitis Orphanet:83616 -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma Orphanet:100002 Extraneural perineurioma NCIT:C6912, DOID:4697 soft tissue perineurioma Orphanet:100002 -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary systemic amyloidosis Orphanet:314701 Primary systemic amyloidosis GARD:0005797 primary systemic amyloidosis Orphanet:314701 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features http://purl.obolibrary.org/obo/OMO_0003005 acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed phenotype acute leukemia Orphanet:530995 Mixed phenotype acute leukemia Orphanet:86851 mixed phenotype acute leukemia Orphanet:530995 MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasRelatedSynonym familial progressive cardiac conduction defect familial progressive cardiac conduction defect Familial progressive cardiac conduction defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871 familial progressive cardiac conduction defect Orphanet:871 MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect hereditary bundle branch defect Hereditary bundle branch defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871, DOID:0111073 hereditary bundle branch defect Orphanet:871 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym isolated genetic deafness isolated genetic deafness Isolated genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 isolated genetic deafness Orphanet:87884 MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym non-syndromic genetic deafness non-syndromic genetic deafness Non-syndromic genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 non-syndromic genetic deafness Orphanet:87884 -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X Orphanet:99226 Monosomy X DOID:3491, NCIT:C36630 monosomy X Orphanet:99226 MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome retinitis pigmentosa-deafness syndrome Retinitis pigmentosa-deafness syndrome Orphanet:886 Usher syndrome Orphanet:886 retinitis pigmentosa-deafness syndrome Orphanet:886 MONDO:0019512 congenital heart malformation oio:hasExactSynonym oio:hasRelatedSynonym rare congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation Rare congenital non-syndromic heart malformation Orphanet:88991 Rare congenital non-syndromic heart malformation Orphanet:88991 rare congenital non-syndromic heart malformation Orphanet:88991 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Hemolytic anemia due to glutathione reductase deficiency Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency OMIM:618660 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Orphanet:90030 @@ -22804,16 +20313,11 @@ MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarro MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive isolated sensorineural deafness type DFNB autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive non-syndromic neurosensory deafness type DFNB autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma Orphanet:913 Zollinger-Ellison syndrome Orphanet:913 gastrinoma Orphanet:913 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection Orphanet:229 annuloaortic ectasia Orphanet:229 -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym cystic medial necrosis of aorta cystic medial necrosis of aorta Cystic medial necrosis of aorta Orphanet:229 Familial aortic dissection Orphanet:229 cystic medial necrosis of aorta Orphanet:229 MONDO:0019691 short rib dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ciliopathies with major skeletal involvement ciliopathies with major skeletal involvement Ciliopathies with major skeletal involvement Orphanet:93426 Ciliopathies with major skeletal involvement Orphanet:93426 ciliopathies with major skeletal involvement Orphanet:93426 -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism acromesomelic dwarfism Acromesomelic dwarfism Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 acromesomelic dwarfism Orphanet:968 MONDO:0019698 bent bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym campomelic dysplasia and related disorders campomelic dysplasia and related disorders Campomelic dysplasia and related disorders Orphanet:93439 Campomelic dysplasia and related disorders Orphanet:93439 campomelic dysplasia and related disorders Orphanet:93439 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Orphanet:93685 Unicentric Castleman disease GARD:0006005 Unicentric Castleman disease Orphanet:93685 MONDO:0019788 non-secreting paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym non-functioning paraganglioma non-functioning paraganglioma Non-functioning paraganglioma Orphanet:94080 Non-functioning paraganglioma Orphanet:94080 non-functioning paraganglioma Orphanet:94080 MONDO:0019795 acalvaria oio:hasExactSynonym oio:hasRelatedSynonym primary acalvaria primary acalvaria Primary acalvaria Orphanet:945 Acalvaria GARD:0000361 primary acalvaria Orphanet:945 -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Orphanet:537 Toxic epidermal necrolysis NCIT:C79777 Lyell syndrome Orphanet:537 MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasRelatedSynonym Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 8 Orphanet:96061 Mosaic trisomy 8 GARD:0005359 Mosaic trisomy chromosome 8 Orphanet:96061 MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8 mosaicism trisomy 8 mosaicism Trisomy 8 mosaicism Orphanet:96061 Mosaic trisomy 8 GARD:0005359 trisomy 8 mosaicism Orphanet:96061 @@ -22841,7 +20345,6 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect Orphanet:98722 Atrioventricular septal defect Orphanet:98722 atrioventricular septal defect Orphanet:98722 MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD Orphanet:98722 Atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 AVSD Orphanet:98722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym oio:hasRelatedSynonym FFEVF Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604364, Orphanet:98820 FFEVF Orphanet:98820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia Orphanet:517 Acute myelomonocytic leukemia GARD:0000536 acute myelomonocytic leukemia Orphanet:517 MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP Orphanet:98842 Lymphomatoid papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP LYP Orphanet:98842 MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy oio:hasExactSynonym oio:hasNarrowSynonym EDMD2 Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:98853 EDMD2 Orphanet:98853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020344 postsynaptic congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym postsynaptic congenital myasthenic syndromes postsynaptic congenital myasthenic syndromes Postsynaptic congenital myasthenic syndromes Orphanet:98913 Postsynaptic congenital myasthenic syndromes Orphanet:98913 postsynaptic congenital myasthenic syndromes Orphanet:98913 @@ -22855,16 +20358,12 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020512 precursor T-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym T-ALL Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99861 T-ALL Orphanet:99861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma Orphanet:99914 Gynandroblastoma GARD:0009665 Gynandroblastoma Orphanet:99914 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary oio:hasExactSynonym oio:hasRelatedSynonym malignant Sertoli-Leydig cell tumor of the ovary malignant Sertoli-Leydig cell tumor of the ovary Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome Orphanet:231108 Rhabdoid tumor predisposition syndrome DOID:2129 rhabdoid tumor predisposition syndrome Orphanet:231108 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MCKD Mckd MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000 MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354 Capillary Malformation-Arteriovenous Malformation Orphanet:137667 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome Orphanet:915 Aarskog-Scott syndrome Aarskog syndrome Orphanet:915 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome Orphanet:915 Aarskog-Scott syndrome Aarskog-Scott syndrome Orphanet:915 MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia faciogenital dysplasia Faciogenital dysplasia Orphanet:915 Aarskog-Scott syndrome faciogenital dysplasia Orphanet:915 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant limb-girdle muscular dystrophy type 1D autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 Orphanet:34516 autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1D limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 GARD:0012528 limb-girdle muscular dystrophy type 1D Orphanet:34516 -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia Orphanet:306773 Hyperekplexia Orphanet:3197 hyperekplexia Orphanet:306773 MONDO:0021227 adrenal gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adrenal/paraganglial tumor adrenal/paraganglial tumor Adrenal/paraganglial tumor Orphanet:100091 Adrenal/paraganglial tumor adrenal/paraganglial tumor Orphanet:100091 MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma Orphanet:94 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytoma Orphanet:94 MONDO:0023171 foix chavany Marie syndrome oio:hasExactSynonym oio:hasRelatedSynonym bilateral anterior opercular syndrome bilateral anterior opercular syndrome Bilateral anterior opercular syndrome Orphanet:2048 Foix-Chavany-Marie syndrome MESH:C537069 bilateral anterior opercular syndrome Orphanet:2048 @@ -22876,13 +20375,7 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NEN Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 GEP-NEN Orphanet:100092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym serotonin-producing neuroendocrine tumor of pancreas serotonin-producing neuroendocrine tumor of pancreas Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin deciduous skin Deciduous skin Orphanet:817 Peeling skin syndrome OMIM:270300 deciduous skin Orphanet:817 -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Duncan disease Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 Duncan disease Orphanet:2442 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Purtilo syndrome Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 Purtilo syndrome Orphanet:2442 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP Xlp XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Lyp Lyp LyP Orphanet:98842 Lymphomatoid papulosis OMIM:308240 Lyp Orphanet:98842 MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD Atld ATLD Orphanet:251347 Ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 ATLD Orphanet:251347 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection OMIM:607086 annuloaortic ectasia Orphanet:229 MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasNarrowSynonym diffuse-type GCT diffuse-type GCT Diffuse-type GCT Orphanet:66627 Tenosynovial giant cell tumor Orphanet:66627 diffuse-type GCT Orphanet:66627 @@ -22906,7 +20399,6 @@ MONDO:0034145 oculocerebrodental syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym oio:hasRelatedSynonym DIDOD Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617991 DIDOD Orphanet:589905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0037149 HSD10 disease, atypical type oio:hasExactSynonym oio:hasBroadSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 MONDO:0043143 microphthalmia microtia fetal akinesia oio:hasExactSynonym oio:hasRelatedSynonym Thomas-Jewett-Raines syndrome Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome GARD:0003650 Thomas-Jewett-Raines syndrome Orphanet:2547 -MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym FS Orphanet:1305 Feingold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007353 FS Orphanet:1305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym endemic pemphigus foliaceus endemic pemphigus foliaceus Endemic pemphigus foliaceus Orphanet:636955 Endemic pemphigus foliaceus GARD:0007353, MESH:C535551, Orphanet:636955 endemic pemphigus foliaceus Orphanet:636955 MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym fogo selvagem fogo selvagem Fogo selvagem Orphanet:636955 Endemic pemphigus foliaceus fogo selvagem Orphanet:636955 MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym Masson's tumor Orphanet:673525 Intravascular papillary endothelial hyperplasia GARD:0010733 Masson's tumor Orphanet:673525 @@ -22921,7 +20413,6 @@ MONDO:0044710 lip and oral cavity squamous cell carcinoma oio:hasExactSynonym oi MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-De Vries syndrome Gabriele-De Vries syndrome Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 Gabriele-De Vries syndrome Orphanet:506358 MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 Gabriele-de Vries syndrome Orphanet:506358 MONDO:0044740 salivary gland squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of salivary glands squamous cell carcinoma of salivary glands Squamous cell carcinoma of salivary glands Orphanet:500481 Squamous cell carcinoma of salivary glands Orphanet:500481 squamous cell carcinoma of salivary glands Orphanet:500481 -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of liver and intrahepatic biliary tract Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract NCIT:C3828 carcinoma of liver and intrahepatic biliary tract Orphanet:424936 MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant congenital melanocytic nevus Orphanet:626 Large congenital melanocytic nevus GARD:0002469, Orphanet:626 giant congenital melanocytic nevus Orphanet:626 MONDO:0054680 epiphyseal dysplasia, multiple, 7 oio:hasExactSynonym oio:hasRelatedSynonym EDM7 Orphanet:647676 Multiple epiphyseal dysplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617719 EDM7 Orphanet:647676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 CMT2DD Orphanet:521414 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22939,11 +20430,8 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:ha MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease NCIT:C113814 autoimmune adrenalitis Orphanet:85138 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal non-kinesigenic dyskinesia paroxysmal non-kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 paroxysmal non-kinesigenic dyskinesia Orphanet:98810 MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Orphanet:1519 SPECC1L-related hypertelorism syndrome Orphanet:1519 Teebi hypertelorism syndrome Orphanet:1519 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome Orphanet:99803 Haddad syndrome OMIM:209880 Haddad syndrome Orphanet:99803 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Ondine-Hirschsprung disease Orphanet:99803 Haddad syndrome OMIM:209880 Ondine-Hirschsprung disease Orphanet:99803 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids hereditary diffuse leukoencephalopathy with spheroids Hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym HDLS Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:313808, MONDO:Lexical, OMIM:221820 HDLS Orphanet:313808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stüve-Wiedemann syndrome Orphanet:3206 Stüve-Wiedemann syndrome Orphanet:3206 Stüve-Wiedemann syndrome Orphanet:3206 MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STWS Stws STWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 STWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -22951,7 +20439,6 @@ MONDO:0800438 developmental delay with short stature, dysmorphic facial features MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay-short stature-dysmorphic features-sparse hair syndrome developmental delay-short stature-dysmorphic features-sparse hair syndrome Developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Orphanet:459061 developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH syndrome Orphanet:135 CACH syndrome Orphanet:135 CACH syndrome Orphanet:135 MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter Orphanet:135 CACH syndrome OMIM:603896 leukoencephalopathy with vanishing WHITE matter Orphanet:135 -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Orphanet:99854 Cree leukoencephalopathy DOID:0060868, GARD:0000231 Cree leukoencephalopathy Orphanet:99854 MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome Orphanet:51636 WHIM syndrome OMIM:193670, MONDO:Lexical WHIM syndrome Orphanet:51636 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome OMIM:212720 MARTSOLF syndrome Orphanet:1387 MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome Orphanet:1387 Martsolf syndrome Orphanet:1387 diff --git a/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv b/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv index f3e4b3c2..8e0a47f3 100644 --- a/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv +++ b/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv @@ -8005,7 +8005,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym IGHD DOID:0060870 isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IGHD DOID:0060870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0000127 geleophysic dysplasia oio:hasExactSynonym geleophysic dwarfism DOID:0111724 geleophysic dysplasia confirmed geleophysic dwarfism DOID:0111724 DOID MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome confirmed immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 DOID -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 confirmed Mosaic variegated aneuploidy syndrome 1 DOID:0080141 DOID MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym Walker-Warburg syndrome DOID:0050560 Walker-Warburg syndrome confirmed Walker-Warburg syndrome DOID:0050560 DOID MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome confirmed cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 DOID MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome confirmed hard syndrome DOID:0050560 DOID @@ -8024,7 +8023,6 @@ MONDO:0000248 dengue shock syndrome oio:hasExactSynonym DSS DOID:0050125 deng MONDO:0000250 osmotic diarrheal disease oio:hasExactSynonym osmotic diarrhea DOID:0050130 osmotic diarrhea confirmed osmotic diarrhea DOID:0050130 DOID MONDO:0000255 subcutaneous mycosis oio:hasExactSynonym subcutaneous mycosis DOID:0050135 subcutaneous mycosis confirmed subcutaneous mycosis DOID:0050135 DOID MONDO:0000265 aspiration pneumonia oio:hasExactSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia confirmed aspiration pneumonia DOID:0050152 DOID -MONDO:0000265 aspiration pneumonia oio:hasExactSynonym Mendelson's syndrome Mendelson's syndrome Mendelson's Syndrome DOID:3240 aspiration pneumonitis confirmed Mendelson's syndrome DOID:3240 DOID MONDO:0000270 lower respiratory tract disorder oio:hasExactSynonym lower respiratory tract disease DOID:0050161 lower respiratory tract disease confirmed lower respiratory tract disease DOID:0050161 DOID MONDO:0000273 Kunjin virus infectous disease oio:hasExactSynonym Kunjin encephalitis DOID:0050174 Kunjin encephalitis confirmed Kunjin encephalitis DOID:0050174 DOID MONDO:0000288 polycystic echinococcosis oio:hasExactSynonym human polycystic hydatid disease DOID:0050218 polycystic echinococcosis confirmed human polycystic hydatid disease DOID:0050218 DOID @@ -8051,9 +8049,6 @@ MONDO:0000330 endemic typhus oio:hasExactSynonym toulon typhus DOID:0050481 e MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus DOID:0050481 endemic typhus confirmed urban typhus DOID:0050481 DOID MONDO:0000330 endemic typhus oio:hasExactSynonym urban typhus of Malaya urban typhus of Malaya Urban Typhus of Malaya DOID:0050481 endemic typhus confirmed urban typhus of Malaya DOID:0050481 DOID MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus confirmed shop typhus DOID:0050481 DOID -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic flea-borne typhus DOID:11256 typhus confirmed endemic flea-borne typhus DOID:11256 DOID -MONDO:0000330 endemic typhus oio:hasExactSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus confirmed endemic typhus fever DOID:11256 DOID -MONDO:0000330 endemic typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:11256 typhus confirmed shop typhus DOID:11256 DOID MONDO:0000331 Rickettsia helvetica spotted fever oio:hasExactSynonym aneruptive fever DOID:0050484 aneruptive fever confirmed aneruptive fever DOID:0050484 DOID MONDO:0000332 sennetsu fever oio:hasExactSynonym sennetsu fever DOID:0050485 sennetsu fever confirmed sennetsu fever DOID:0050485 DOID MONDO:0000337 exanthema subitum oio:hasExactSynonym roseola Infantum roseola Infantum Roseola Infantum DOID:0050495 exanthema subitum confirmed roseola Infantum DOID:0050495 DOID @@ -8078,7 +8073,6 @@ MONDO:0000387 hypochromic microcytic anemia oio:hasExactSynonym hypochromic mic MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym vitelliform macular dystrophy DOID:0050661 vitelliform macular dystrophy confirmed vitelliform macular dystrophy DOID:0050661 DOID MONDO:0000395 alcohol-related birth defect oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0000402 small cell carcinoma oio:hasExactSynonym small cell carcinoma DOID:0050685 small cell carcinoma confirmed small cell carcinoma DOID:0050685 DOID -MONDO:0000402 small cell carcinoma oio:hasExactSynonym oat cell carcinoma DOID:5411 lung oat cell carcinoma confirmed oat cell carcinoma DOID:5411 DOID MONDO:0000405 anal canal cancer oio:hasExactSynonym anal canal cancer DOID:0050688 anal canal cancer confirmed anal canal cancer DOID:0050688 DOID MONDO:0000411 electroclinical syndrome oio:hasExactSynonym electro-clinical syndrome DOID:0050701 electroclinical syndrome confirmed electro-clinical syndrome DOID:0050701 DOID MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym mature T-cell and NK-cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma confirmed mature T-cell and NK-cell lymphoma DOID:0050743 DOID @@ -8135,9 +8129,6 @@ MONDO:0000544 mucosal melanoma oio:hasExactSynonym mucosal melanoma DOID:0050 MONDO:0000545 sublingual gland adenoid cystic carcinoma oio:hasExactSynonym sublingual gland adenoid cystic carcinoma DOID:0050930 sublingual gland adenoid cystic carcinoma confirmed sublingual gland adenoid cystic carcinoma DOID:0050930 DOID MONDO:0000548 ovarian clear cell cancer oio:hasExactSynonym clear-cell ovarian carcinoma DOID:0050934 ovarian clear cell carcinoma confirmed clear-cell ovarian carcinoma DOID:0050934 DOID MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal pheochromocytoma DOID:0050936 extra-adrenal pheochromocytoma confirmed extra-adrenal pheochromocytoma DOID:0050936 DOID -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma confirmed lobular carcinoma DOID:3457 DOID -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular carcinoma of breast DOID:3457 invasive lobular carcinoma confirmed lobular carcinoma of breast DOID:3457 DOID -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma confirmed lobular carcinoma of the breast DOID:3457 DOID MONDO:0000572 recombinase activating gene 1 deficiency oio:hasExactSynonym recombinase activating gene 1 deficiency DOID:0060011 recombinase activating gene 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed recombinase activating gene 1 deficiency DOID:0060011 DOID MONDO:0000573 recombinase activating gene 2 deficiency oio:hasExactSynonym recombinase activating gene 2 deficiency DOID:0060012 recombinase activating gene 2 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed recombinase activating gene 2 deficiency DOID:0060012 DOID MONDO:0000583 immunoglobulin beta deficiency oio:hasRelatedSynonym IgB deficiency DOID:0060026 immunoglobulin beta deficiency confirmed IgB deficiency DOID:0060026 DOID @@ -8145,7 +8136,6 @@ MONDO:0000591 intrinsic cardiomyopathy oio:hasExactSynonym intrinsic cardiomyop MONDO:0000592 specific developmental disorder oio:hasExactSynonym specific developmental disorder DOID:0060038 specific developmental disorder confirmed specific developmental disorder DOID:0060038 DOID MONDO:0000594 pervasive developmental disorder oio:hasExactSynonym pervasive development disorder DOID:0060040 pervasive developmental disorder confirmed pervasive development disorder DOID:0060040 DOID MONDO:0000596 paraphilic disorder oio:hasExactSynonym paraphilia disorder DOID:0060044 paraphilia disorder confirmed paraphilia disorder DOID:0060044 DOID -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym hypersensitivity DOID:1205 allergic disease confirmed hypersensitivity DOID:1205 DOID MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma confirmed cutaneous T cell lymphoma DOID:0060061 DOID MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym cutaneous T-cell lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma confirmed cutaneous T-cell lymphoma DOID:0060061 DOID MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma oio:hasExactSynonym primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma confirmed primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 DOID @@ -8161,8 +8151,6 @@ MONDO:0000627 benign endocrine neoplasm oio:hasExactSynonym endocrine organ ben MONDO:0000628 central nervous system organ benign neoplasm oio:hasExactSynonym central nervous system benign neoplasm DOID:0060090 central nervous system benign neoplasm confirmed central nervous system benign neoplasm DOID:0060090 DOID MONDO:0000636 musculoskeletal system benign neoplasm oio:hasExactSynonym musculoskeletal system benign neoplasm DOID:0060099 musculoskeletal system benign neoplasm confirmed musculoskeletal system benign neoplasm DOID:0060099 DOID MONDO:0000637 musculoskeletal system cancer oio:hasExactSynonym musculoskeletal system cancer DOID:0060100 musculoskeletal system cancer confirmed musculoskeletal system cancer DOID:0060100 DOID -MONDO:0000639 cartilage cancer oio:hasExactSynonym cartilaginous cancer cartilaginous cancer Cartilaginous cancer DOID:3371 chondrosarcoma confirmed cartilaginous cancer DOID:3371 DOID -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0000640 central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym central nervous system primitive neuroectodermal neoplasm DOID:0060103 central nervous system embryonal tumor confirmed central nervous system primitive neuroectodermal neoplasm DOID:0060103 DOID MONDO:0000645 fallopian tube benign neoplasm oio:hasExactSynonym fallopian tube benign neoplasm DOID:0060111 fallopian tube benign neoplasm confirmed fallopian tube benign neoplasm DOID:0060111 DOID MONDO:0000647 benign vaginal neoplasm oio:hasExactSynonym vaginal benign neoplasm DOID:0060114 vaginal benign neoplasm confirmed vaginal benign neoplasm DOID:0060114 DOID @@ -8171,7 +8159,6 @@ MONDO:0000649 sensory system cancer oio:hasExactSynonym sensory system cancer MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym connective tissue benign neoplasm DOID:0060123 connective tissue benign neoplasm confirmed connective tissue benign neoplasm DOID:0060123 DOID MONDO:0000659 delta-heavy chain disease oio:hasExactSynonym delta chain disease DOID:0060129 delta chain disease confirmed delta chain disease DOID:0060129 DOID MONDO:0000662 amusia oio:hasExactSynonym receptive amusia DOID:0060132 amusia confirmed receptive amusia DOID:0060132 DOID -MONDO:0000665 apraxia oio:hasExactSynonym dyspraxia dyspraxia Dyspraxia DOID:4090 agnosia confirmed dyspraxia DOID:4090 DOID MONDO:0000671 finger agnosia oio:hasExactSynonym finger agnosia DOID:0060141 finger agnosia confirmed finger agnosia DOID:0060141 DOID MONDO:0000679 social emotional agnosia oio:hasExactSynonym expressive agnosia DOID:0060149 social emotional agnosia confirmed expressive agnosia DOID:0060149 DOID MONDO:0000680 astereognosia oio:hasExactSynonym astereognosia DOID:0060150 astereognosia confirmed astereognosia DOID:0060150 DOID @@ -8233,7 +8220,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym Salmonella infection DOID:006 MONDO:0000831 thrombotic disease oio:hasExactSynonym thrombosis DOID:0060903 thrombosis confirmed thrombosis DOID:0060903 DOID MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym caisson disease of bone caisson disease of bone Caisson disease of bone DOID:0080018 dysbaric osteonecrosis confirmed caisson disease of bone DOID:0080018 DOID MONDO:0000840 dysbaric osteonecrosis oio:hasExactSynonym DON DOID:0080018 dysbaric osteonecrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DON DOID:0080018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone DOID:1858 McCune Albright syndrome confirmed fibrous dysplasia of bone DOID:1858 DOID MONDO:0000849 fibrogenesis imperfecta ossium oio:hasExactSynonym baker's disease baker's disease Baker's disease DOID:0080040 fibrogenesis imperfecta ossium confirmed baker's disease DOID:0080040 DOID MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta DOID:0080073 spina bifida occulta confirmed spina bifida occulta DOID:0080073 DOID MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym childhood acute lymphoblastic leukemia childhood acute lymphoblastic leukemia Childhood Acute Lymphoblastic Leukemia DOID:0080144 childhood acute lymphocytic leukemia confirmed childhood acute lymphoblastic leukemia DOID:0080144 DOID @@ -8272,8 +8258,6 @@ MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym HS2 DOID:01 MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym SPH2 DOID:0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPH2 DOID:0110917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL 1 DOID:0111035 CADASIL 1 confirmed CADASIL 1 DOID:0111035 DOID MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 CADASIL 1 confirmed autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 DOID -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym hereditary multi-infarct dementia DOID:13945 CADASIL confirmed hereditary multi-infarct dementia DOID:13945 DOID -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym CADASIL DOID:13945 CADASIL http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CADASIL DOID:13945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0000916 intestinal infectious disease oio:hasExactSynonym bacterial enteritis DOID:100 intestinal infectious disease confirmed bacterial enteritis DOID:100 DOID MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of Vater malignant tumour of ampulla of Vater malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 confirmed malignant tumour of ampulla of Vater DOID:10020 DOID MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumour of ampulla of vater DOID:10020 ampulla of Vater cancer http://purl.obolibrary.org/obo/OMO_0003005 confirmed malignant tumour of ampulla of vater DOID:10020 DOID @@ -8509,7 +8493,6 @@ MONDO:0001118 Queensland tick typhus oio:hasRelatedSynonym North Queensland tic MONDO:0001119 premature menopause oio:hasExactSynonym menopause - premature menopause - premature Menopause - premature DOID:10787 premature menopause confirmed menopause - premature DOID:10787 DOID MONDO:0001119 premature menopause oio:hasExactSynonym menopause praecox menopause praecox Menopause praecox DOID:10787 premature menopause confirmed menopause praecox DOID:10787 DOID MONDO:0001119 premature menopause oio:hasExactSynonym premature menopause DOID:10787 premature menopause confirmed premature menopause DOID:10787 DOID -MONDO:0001119 premature menopause oio:hasExactSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency confirmed premature ovarian failure DOID:5426 DOID MONDO:0001122 chronic maxillary sinusitis oio:hasExactSynonym chronic antritis DOID:10792 chronic maxillary sinusitis confirmed chronic antritis DOID:10792 DOID MONDO:0001123 chronic sphenoidal sinusitis oio:hasExactSynonym sphenoidal sinus-chr. sphenoidal sinus-chr. Sphenoidal sinus-chr. DOID:10793 chronic sphenoidal sinusitis confirmed sphenoidal sinus-chr. DOID:10793 DOID MONDO:0001126 gastric ulcer oio:hasExactSynonym gastric ulcer DOID:10808 gastric ulcer confirmed gastric ulcer DOID:10808 DOID @@ -8517,7 +8500,6 @@ MONDO:0001127 tibialis tendinitis oio:hasExactSynonym tibialis tendinitis DOI MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nasal cavities DOID:10811 nasal cavity cancer confirmed malignant neoplasm of nasal cavities DOID:10811 DOID MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity DOID:10811 nasal cavity cancer confirmed malignant tumor of the nasal cavity DOID:10811 DOID MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer DOID:10811 nasal cavity cancer confirmed nasal cavity cancer DOID:10811 DOID -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma confirmed cancer of nasal cavity DOID:4931 DOID MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma DOID:10812 nasal cavity olfactory neuroblastoma confirmed nasal cavity olfactory neuroblastoma DOID:10812 DOID MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory neuroblastoma of the nasal cavity DOID:10812 nasal cavity olfactory neuroblastoma confirmed olfactory neuroblastoma of the nasal cavity DOID:10812 DOID MONDO:0001130 nasal cavity lymphoma oio:hasExactSynonym lymphoma of nasal cavity DOID:10813 nasal cavity lymphoma confirmed lymphoma of nasal cavity DOID:10813 DOID @@ -8576,7 +8558,6 @@ MONDO:0001155 gastrojejunal ulcer oio:hasExactSynonym chronic gastrojejunal ulc MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder DOID:10930 borderline personality disorder confirmed borderline personality disorder DOID:10930 DOID MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCPD DOID:10932 obsessive-compulsive personality disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCPD DOID:10932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0001158 obsessive-compulsive personality disorder oio:hasRelatedSynonym anankastic personality disorder anankastic personality disorder Anankastic personality disorder DOID:10932 obsessive-compulsive personality disorder confirmed anankastic personality disorder DOID:10932 DOID -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative identity disorder DOID:10934 multiple personality disorder confirmed dissociative identity disorder DOID:10934 DOID MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative disease DOID:10935 dissociative disorder confirmed dissociative disease DOID:10935 DOID MONDO:0001160 dissociative disorder oio:hasExactSynonym dissociative reaction DOID:10935 dissociative disorder confirmed dissociative reaction DOID:10935 DOID @@ -8677,7 +8658,6 @@ MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym dissem MONDO:0001243 disseminated intravascular coagulation oio:hasExactSynonym DIC DOID:11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIC DOID:11247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K DOID:11249 vitamin K deficiency bleeding confirmed deficiency of vitamin K DOID:11249 DOID MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym vitamin K deficiency DOID:11249 vitamin K deficiency bleeding confirmed vitamin K deficiency DOID:11249 DOID -MONDO:0001246 typhus oio:hasRelatedSynonym shop typhus shop typhus Shop typhus DOID:0050481 endemic typhus confirmed shop typhus DOID:0050481 DOID MONDO:0001246 typhus oio:hasExactSynonym typhus fever typhus fever Typhus fever DOID:11256 typhus confirmed typhus fever DOID:11256 DOID MONDO:0001246 typhus oio:hasRelatedSynonym European typhus DOID:11256 typhus confirmed European typhus DOID:11256 DOID MONDO:0001246 typhus oio:hasRelatedSynonym Mexican typhus DOID:11256 typhus confirmed Mexican typhus DOID:11256 DOID @@ -8905,7 +8885,6 @@ MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym tumor of frontal lobe t MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn syndrome DOID:12028 Conn's syndrome confirmed Conn syndrome DOID:12028 DOID MONDO:0001422 primary aldosteronism oio:hasExactSynonym Conn's syndrome DOID:12028 Conn's syndrome confirmed Conn's syndrome DOID:12028 DOID MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary aldosteronism DOID:12028 Conn's syndrome confirmed primary aldosteronism DOID:12028 DOID -MONDO:0001422 primary aldosteronism oio:hasExactSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism confirmed primary hyperaldosteronism DOID:446 DOID MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym mediastinum neurofibroma DOID:12064 mediastinum neurofibroma confirmed mediastinum neurofibroma DOID:12064 DOID MONDO:0001426 mediastinum neurofibroma oio:hasExactSynonym neurofibroma of mediastinum neurofibroma of mediastinum Neurofibroma of mediastinum DOID:12064 mediastinum neurofibroma confirmed neurofibroma of mediastinum DOID:12064 DOID MONDO:0001427 Dieulafoy lesion oio:hasExactSynonym Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 Dieulafoy lesion confirmed Dieulafoy lesion (hemorrhagic) of intestine DOID:12070 DOID @@ -9011,7 +8990,6 @@ MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym acute alcoholic liver dis MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic Hepatitis alcoholic Hepatitis alcoholic hepatitis DOID:12351 alcoholic hepatitis confirmed alcoholic Hepatitis DOID:12351 DOID MONDO:0001505 alcoholic hepatitis oio:hasExactSynonym alcoholic hepatitis DOID:12351 alcoholic hepatitis confirmed alcoholic hepatitis DOID:12351 DOID MONDO:0001507 viral labyrinthitis oio:hasExactSynonym epidemic vertigo epidemic vertigo Epidemic vertigo DOID:12357 viral labyrinthitis confirmed epidemic vertigo DOID:12357 DOID -MONDO:0001509 endocrine exophthalmos oio:hasExactSynonym thyroid eye disease DOID:0081120 Graves ophthalmopathy confirmed thyroid eye disease DOID:0081120 DOID MONDO:0001510 lateral displacement of eye oio:hasExactSynonym lateral displacement of globe lateral displacement of globe Lateral displacement of globe DOID:12360 lateral displacement of eye confirmed lateral displacement of globe DOID:12360 DOID MONDO:0001512 intermittent proptosis oio:hasExactSynonym intermittent exophthalmos intermittent exophthalmos Intermittent exophthalmos DOID:12363 intermittent proptosis confirmed intermittent exophthalmos DOID:12363 DOID MONDO:0001514 prolapse of urethra oio:hasExactSynonym urethrocele urethrocele Urethrocele DOID:12369 prolapse of urethra confirmed urethrocele DOID:12369 DOID @@ -9182,7 +9160,6 @@ MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe pre-eclampsia, wi MONDO:0001641 severe pre-eclampsia oio:hasExactSynonym severe preeclampsia DOID:13129 severe pre-eclampsia confirmed severe preeclampsia DOID:13129 DOID MONDO:0001642 hordeolum externum oio:hasExactSynonym external stye DOID:13134 hordeolum externum confirmed external stye DOID:13134 DOID MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 acute proliferative glomerulonephritis confirmed acute glomerulonephritis with lesion of proliferative glomerulonephritis DOID:13138 DOID -MONDO:0001644 acute proliferative glomerulonephritis oio:hasExactSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis confirmed post-streptococcal glomerulonephritis DOID:14064 DOID MONDO:0001645 crescentic glomerulonephritis oio:hasExactSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis confirmed crescentic glomerulonephritis DOID:13139 DOID MONDO:0001648 esophageal candidiasis oio:hasExactSynonym Candida esophagitis Candida esophagitis Candida Esophagitis DOID:13146 esophageal candidiasis confirmed Candida esophagitis DOID:13146 DOID MONDO:0001648 esophageal candidiasis oio:hasExactSynonym candidal esophagitis candidal esophagitis Candidal esophagitis DOID:13146 esophageal candidiasis confirmed candidal esophagitis DOID:13146 DOID @@ -9493,9 +9470,6 @@ MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock DOID:14115 MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome DOID:14115 toxic shock syndrome confirmed toxic shock syndrome DOID:14115 DOID MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS DOID:14115 toxic shock syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TSS DOID:14115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0001882 bacteriuria oio:hasExactSynonym bacteriuria DOID:1412 bacteriuria confirmed bacteriuria DOID:1412 DOID -MONDO:0001883 blue toe syndrome oio:hasExactSynonym purple toe syndrome DOID:1461 cholesterol embolism confirmed purple toe syndrome DOID:1461 DOID -MONDO:0001883 blue toe syndrome oio:hasExactSynonym trash foot DOID:1461 cholesterol embolism confirmed trash foot DOID:1461 DOID -MONDO:0001883 blue toe syndrome oio:hasExactSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism confirmed warfarin blue toe syndrome DOID:1461 DOID MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve tumors VIth cranial nerve tumors VIth Cranial nerve tumors DOID:14125 abducens nerve neoplasm confirmed VIth cranial nerve tumors DOID:14125 DOID MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym neoplasm of abducens nerve DOID:14125 abducens nerve neoplasm confirmed neoplasm of abducens nerve DOID:14125 DOID MONDO:0001887 Allen-Masters syndrome oio:hasExactSynonym Broad ligament laceration syndrome DOID:14133 Masters-Allen syndrome confirmed Broad ligament laceration syndrome DOID:14133 DOID @@ -9635,7 +9609,6 @@ MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasE MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome confirmed autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 DOID MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym Dejerine-Thomas syndrome DOID:14784 olivopontocerebellar atrophy confirmed Dejerine-Thomas syndrome DOID:14784 DOID MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy confirmed WADIA-swami syndrome DOID:14784 DOID -MONDO:0002026 candidiasis oio:hasExactSynonym thrush DOID:14262 oral candidiasis confirmed thrush DOID:14262 DOID MONDO:0002027 avoidant personality disorder oio:hasExactSynonym anxious personality disorder DOID:1509 avoidant personality disorder confirmed anxious personality disorder DOID:1509 DOID MONDO:0002028 personality disorder oio:hasExactSynonym character disorder DOID:1510 personality disorder confirmed character disorder DOID:1510 DOID MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder DOID:1510 personality disorder confirmed personality disorder DOID:1510 DOID @@ -9653,7 +9626,6 @@ MONDO:0002035 colon lymphoma oio:hasExactSynonym colonic lymphoma colonic lymph MONDO:0002036 penile disorder oio:hasExactSynonym penile disease DOID:1529 penile disease confirmed penile disease DOID:1529 DOID MONDO:0002037 pleural disorder oio:hasExactSynonym disorder of pleura DOID:1532 pleural disease confirmed disorder of pleura DOID:1532 DOID MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcinoma DOID:1542 head and neck carcinoma confirmed head and neck carcinoma DOID:1542 DOID -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym carcinoma of the head and neck DOID:5520 head and neck squamous cell carcinoma confirmed carcinoma of the head and neck DOID:5520 DOID MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disease DOID:1561 cognitive disorder confirmed cognitive disease DOID:1561 DOID MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder DOID:1561 cognitive disorder confirmed cognitive disorder DOID:1561 DOID MONDO:0002039 cognitive disorder oio:hasRelatedSynonym organic mental disorder organic mental disorder Organic Mental disorder DOID:1561 cognitive disorder confirmed organic mental disorder DOID:1561 DOID @@ -9811,12 +9783,10 @@ MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma oio:hasExactSynonym MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma DOID:1907 malignant fibrous histiocytoma confirmed fibroxanthosarcoma DOID:1907 DOID MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma DOID:1907 malignant fibrous histiocytoma confirmed malignant fibrous histiocytoma DOID:1907 DOID MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH DOID:1907 malignant fibrous histiocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MFH DOID:1907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma DOID:3354 fibrosarcoma of bone confirmed malignant fibroxanthoma DOID:3354 DOID MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal endodermal sinus neoplasm DOID:1910 vaginal yolk sac tumor confirmed vaginal endodermal sinus neoplasm DOID:1910 DOID MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac neoplasm vaginal yolk Sac neoplasm vaginal Yolk Sac neoplasm DOID:1910 vaginal yolk sac tumor confirmed vaginal yolk Sac neoplasm DOID:1910 DOID MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym vaginal yolk Sac tumor vaginal yolk Sac tumor vaginal yolk sac tumor DOID:1910 vaginal yolk sac tumor confirmed vaginal yolk Sac tumor DOID:1910 DOID MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym sex differentiation disease DOID:1923 disorder of sexual development confirmed sex differentiation disease DOID:1923 DOID -MONDO:0002146 hypogonadism oio:hasExactSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism confirmed hypogonadotropism DOID:0090070 DOID MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproductive system neoplasm DOID:193 reproductive organ cancer confirmed malignant reproductive system neoplasm DOID:193 DOID MONDO:0002149 reproductive system cancer oio:hasExactSynonym reproductive organ cancer DOID:193 reproductive organ cancer confirmed reproductive organ cancer DOID:193 DOID MONDO:0002152 intermittent squint oio:hasExactSynonym intermittent heterotropia intermittent heterotropia Intermittent heterotropia DOID:1942 intermittent squint confirmed intermittent heterotropia DOID:1942 DOID @@ -10021,7 +9991,6 @@ MONDO:0002311 retinal vascular disorder oio:hasExactSynonym retina circulation MONDO:0002312 opportunistic mycosis oio:hasExactSynonym opportunistic mycoses opportunistic mycoses Opportunistic mycoses DOID:2473 opportunistic mycosis confirmed opportunistic mycoses DOID:2473 DOID MONDO:0002314 chronic conjunctivitis oio:hasExactSynonym chronic conjunctivitis DOID:2475 chronic conjunctivitis confirmed chronic conjunctivitis DOID:2475 DOID MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy peripheral motor neuropathy Peripheral Motor Neuropathy DOID:2477 motor peripheral neuropathy confirmed peripheral motor neuropathy DOID:2477 DOID -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym peripheral motor neuropathy DOID:683 motor neuritis confirmed peripheral motor neuropathy DOID:683 DOID MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym central vestibular vertigo DOID:2479 central nervous system origin vertigo confirmed central vestibular vertigo DOID:2479 DOID MONDO:0002317 central nervous system origin vertigo oio:hasExactSynonym vertigo of central origin vertigo of central origin Vertigo of central origin DOID:2479 central nervous system origin vertigo confirmed vertigo of central origin DOID:2479 DOID MONDO:0002318 trachea leiomyoma oio:hasExactSynonym leiomyoma of the trachea leiomyoma of the trachea leiomyoma of the Trachea DOID:248 trachea leiomyoma confirmed leiomyoma of the trachea DOID:248 DOID @@ -10065,7 +10034,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer DOID:2595 glo MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis DOID:2595 glottis cancer confirmed malignant tumor of glottis DOID:2595 DOID MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis malignant tumor of the Glottis DOID:2595 glottis cancer confirmed malignant tumor of the glottis DOID:2595 DOID MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer DOID:2596 larynx cancer confirmed larynx cancer DOID:2596 DOID -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx DOID:2600 laryngeal carcinoma confirmed cancer of larynx DOID:2600 DOID MONDO:0002353 glottis neoplasm oio:hasExactSynonym glottis neoplasm DOID:2597 glottis neoplasm confirmed glottis neoplasm DOID:2597 DOID MONDO:0002353 glottis neoplasm oio:hasExactSynonym neoplasm of glottis DOID:2597 glottis neoplasm confirmed neoplasm of glottis DOID:2597 DOID MONDO:0002353 glottis neoplasm oio:hasExactSynonym tumor of the glottis tumor of the glottis tumor of the Glottis DOID:2597 glottis neoplasm confirmed tumor of the glottis DOID:2597 DOID @@ -10115,7 +10083,6 @@ MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid choristoma dermoid chori MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst DOID:2658 dermoid cyst confirmed dermoid cyst DOID:2658 DOID MONDO:0002378 dermoid cyst oio:hasExactSynonym mature cystic teratoma mature cystic teratoma Mature cystic teratoma DOID:2658 dermoid cyst confirmed mature cystic teratoma DOID:2658 DOID MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid tumour dermoid tumour Dermoid tumour DOID:2658 dermoid cyst http://purl.obolibrary.org/obo/OMO_0003005 confirmed dermoid tumour DOID:2658 DOID -MONDO:0002378 dermoid cyst oio:hasExactSynonym dermoid cyst dermoid cyst Dermoid cyst DOID:5117 dermoid cyst of ovary confirmed dermoid cyst DOID:5117 DOID MONDO:0002379 cystic teratoma oio:hasExactSynonym cystic teratoma DOID:2660 cystic teratoma confirmed cystic teratoma DOID:2660 DOID MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial adenoma myoepithelial adenoma Myoepithelial adenoma DOID:2661 myoepithelioma confirmed myoepithelial adenoma DOID:2661 DOID MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial neoplasm myoepithelial neoplasm Myoepithelial neoplasm DOID:2661 myoepithelioma confirmed myoepithelial neoplasm DOID:2661 DOID @@ -10308,7 +10275,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis DOID:3087 gingivitis MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma DOID:3112 papillary adenocarcinoma confirmed papillary adenocarcinoma DOID:3112 DOID MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym kidney benign neoplasm DOID:3116 kidney benign neoplasm confirmed kidney benign neoplasm DOID:3116 DOID MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym renal and ureteral tumor DOID:3116 kidney benign neoplasm confirmed renal and ureteral tumor DOID:3116 DOID -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym hepatobiliary tumors DOID:3117 hepatobiliary benign neoplasm confirmed hepatobiliary tumors DOID:3117 DOID MONDO:0002515 hepatobiliary disorder oio:hasExactSynonym liver and biliary tract disease DOID:3118 hepatobiliary disease confirmed liver and biliary tract disease DOID:3118 DOID MONDO:0002516 digestive system cancer oio:hasExactSynonym digestive system cancer DOID:3119 gastrointestinal system cancer confirmed digestive system cancer DOID:3119 DOID MONDO:0002516 digestive system cancer oio:hasExactSynonym gastrointestinal system cancer DOID:3119 gastrointestinal system cancer confirmed gastrointestinal system cancer DOID:3119 DOID @@ -10360,7 +10326,6 @@ MONDO:0002545 spinal cord disorder oio:hasRelatedSynonym myelopathy DOID:319 MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma DOID:3192 neurilemmoma confirmed neurilemmoma DOID:3192 DOID MONDO:0002546 schwannoma oio:hasExactSynonym psammomatous schwannoma psammomatous schwannoma Psammomatous schwannoma DOID:3192 neurilemmoma confirmed psammomatous schwannoma DOID:3192 DOID MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma DOID:3192 neurilemmoma confirmed schwannoma DOID:3192 DOID -MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm confirmed nerve sheath neoplasm DOID:1192 DOID MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath neoplasm of the nerve Sheath DOID:3193 peripheral nerve sheath neoplasm confirmed neoplasm of the nerve sheath DOID:3193 DOID MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym peripheral nerve sheath neoplasm DOID:3193 peripheral nerve sheath neoplasm confirmed peripheral nerve sheath neoplasm DOID:3193 DOID MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumour DOID:3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/OMO_0003005 confirmed nerve sheath tumour DOID:3193 DOID @@ -10553,7 +10518,6 @@ MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym adult fibrosarcoma DOID: MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma DOID:3517 conventional fibrosarcoma confirmed conventional fibrosarcoma DOID:3517 DOID MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma DOID:3520 childhood fibrosarcoma confirmed childhood fibrosarcoma DOID:3520 DOID MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma DOID:3520 childhood fibrosarcoma confirmed pediatric fibrosarcoma DOID:3520 DOID -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia DOID:2316 brain ischemia confirmed cerebral ischemia DOID:2316 DOID MONDO:0002679 cerebral infarction oio:hasExactSynonym CVA - cerebral infarction CVA - cerebral infarction CVA - Cerebral infarction DOID:3526 cerebral infarction confirmed CVA - cerebral infarction DOID:3526 DOID MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarct cerebral infarct Cerebral infarct DOID:3526 cerebral infarction confirmed cerebral infarct DOID:3526 DOID MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction DOID:3526 cerebral infarction confirmed cerebral infarction DOID:3526 DOID @@ -10912,7 +10876,6 @@ MONDO:0002930 kidney sarcoma oio:hasExactSynonym sarcoma of kidney DOID:4242 MONDO:0002934 intravascular angioleiomyoma oio:hasExactSynonym intravascular angioleiomyoma DOID:4266 intravascular angioleiomyoma confirmed intravascular angioleiomyoma DOID:4266 DOID MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal cell carcinoma of scrotum DOID:4278 scrotum basal cell carcinoma confirmed basal cell carcinoma of scrotum DOID:4278 DOID MONDO:0002936 scrotum basal cell carcinoma oio:hasRelatedSynonym basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma confirmed basal cell carcinoma of the scrotum DOID:4278 DOID -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer DOID:2513 basal cell carcinoma confirmed Rodent Ulcer DOID:2513 DOID MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym basal cell carcinoma, nodular basal cell carcinoma, nodular Basal cell carcinoma, nodular DOID:4280 nodular basal cell carcinoma confirmed basal cell carcinoma, nodular DOID:4280 DOID MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym circumscribed solid basal cell carcinoma circumscribed solid basal cell carcinoma Circumscribed solid basal cell carcinoma DOID:4280 nodular basal cell carcinoma confirmed circumscribed solid basal cell carcinoma DOID:4280 DOID MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma DOID:4280 nodular basal cell carcinoma confirmed skin nodulo-ulcerative basal cell carcinoma DOID:4280 DOID @@ -11576,8 +11539,6 @@ MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma DOID:5402 v MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma DOID:5403 microcystic adenoma confirmed microcystic adenoma DOID:5403 DOID MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult small cell carcinoma of the lung DOID:5414 lung occult small cell carcinoma confirmed occult small cell carcinoma of the lung DOID:5414 DOID MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small cell carcinoma of the lung combined small cell carcinoma of the lung Combined small cell carcinoma of the lung DOID:5421 lung combined type small cell carcinoma confirmed combined small cell carcinoma of the lung DOID:5421 DOID -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym combined small and large cell lung cancer DOID:7081 lung mixed small cell and squamous cell carcinoma confirmed combined small and large cell lung cancer DOID:7081 DOID -MONDO:0003438 combined small cell lung carcinoma oio:hasExactSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma confirmed small cell and large cell carcinoma of the lung DOID:7081 DOID MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym urinary bladder villous adenoma DOID:5427 urinary bladder villous adenoma confirmed urinary bladder villous adenoma DOID:5427 DOID MONDO:0003439 urinary bladder villous adenoma oio:hasExactSynonym villous adenoma of urinary bladder DOID:5427 urinary bladder villous adenoma confirmed villous adenoma of urinary bladder DOID:5427 DOID MONDO:0003441 dystonic disorder oio:hasExactSynonym dystonia DOID:543 dystonia confirmed dystonia DOID:543 DOID @@ -11678,7 +11639,6 @@ MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym choriocarcinoma of MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym testicular choriocarcinoma testicular choriocarcinoma testicular Choriocarcinoma DOID:5551 choriocarcinoma of the testis confirmed testicular choriocarcinoma DOID:5551 DOID MONDO:0003509 pineal region choriocarcinoma oio:hasExactSynonym pineal choriocarcinoma pineal choriocarcinoma Pineal Choriocarcinoma DOID:5553 pineal region choriocarcinoma confirmed pineal choriocarcinoma DOID:5553 DOID MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym malignant germ cell tumor of testis DOID:5556 testicular malignant germ cell cancer confirmed malignant germ cell tumor of testis DOID:5556 DOID -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer confirmed testicular germ cell cancer DOID:5557 DOID MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumor of mediastinum DOID:5560 mediastinal mesenchymal tumor confirmed soft tissue tumor of mediastinum DOID:5560 DOID MONDO:0003512 mediastinal mesenchymal tumor oio:hasExactSynonym soft tissue tumour of mediastinum DOID:5560 mediastinal mesenchymal tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed soft tissue tumour of mediastinum DOID:5560 DOID MONDO:0003513 gastric teratoma oio:hasExactSynonym gastric teratoma DOID:5561 gastric teratoma confirmed gastric teratoma DOID:5561 DOID @@ -11699,8 +11659,6 @@ MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastri MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastric G-cell gastrin producing tumor DOID:5579 gastric gastrinoma confirmed gastric G-cell gastrin producing tumor DOID:5579 DOID MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor oio:hasExactSynonym pancreatic G-cell tumor DOID:5580 pancreatic gastrinoma confirmed pancreatic G-cell tumor DOID:5580 DOID MONDO:0003528 Volkmann contracture oio:hasExactSynonym Volkmann's ischemic contracture DOID:5587 Volkmann contracture confirmed Volkmann's ischemic contracture DOID:5587 DOID -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma confirmed tubular apocrine adenoma DOID:3895 DOID -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym papillary eccrine adenoma DOID:5446 eccrine papillary adenoma confirmed papillary eccrine adenoma DOID:5446 DOID MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym breast papillary carcinoma DOID:5592 breast papillary carcinoma confirmed breast papillary carcinoma DOID:5592 DOID MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym papillary carcinoma of the breast papillary carcinoma of the breast Papillary carcinoma of the breast DOID:5592 breast papillary carcinoma confirmed papillary carcinoma of the breast DOID:5592 DOID MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym papillary carcinoma of the Thymus papillary carcinoma of the Thymus Papillary carcinoma of the Thymus DOID:5595 papillary thymic adenocarcinoma confirmed papillary carcinoma of the Thymus DOID:5595 DOID @@ -11708,7 +11666,6 @@ MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym fallo MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma of the fallopian tube papillary adenocarcinoma of the fallopian tube Papillary adenocarcinoma of the fallopian tube DOID:5597 fallopian tube papillary adenocarcinoma confirmed papillary adenocarcinoma of the fallopian tube DOID:5597 DOID MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym acute Adult T-cell Leukemia-lymphoma acute Adult T-cell Leukemia-lymphoma Acute Adult T-cell Leukemia-Lymphoma DOID:5602 T-cell adult acute lymphocytic leukemia confirmed acute Adult T-cell Leukemia-lymphoma DOID:5602 DOID MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym adult precursor T lymphoblastic leukemia adult precursor T lymphoblastic leukemia adult Precursor T Lymphoblastic Leukemia DOID:5602 T-cell adult acute lymphocytic leukemia confirmed adult precursor T lymphoblastic leukemia DOID:5602 DOID -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia confirmed T Acute Lymphoblastic Leukemia DOID:5603 DOID MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult ALL DOID:5604 adult acute lymphocytic leukemia confirmed adult ALL DOID:5604 DOID MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphocytic leukemia DOID:5604 adult acute lymphocytic leukemia confirmed adult acute lymphocytic leukemia DOID:5604 DOID MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym adult acute lymphoid leukemia adult acute lymphoid leukemia adult acute lymphoid Leukemia DOID:5604 adult acute lymphocytic leukemia confirmed adult acute lymphoid leukemia DOID:5604 DOID @@ -11852,7 +11809,6 @@ MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym esophageal ne MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumor of esophagus DOID:5784 esophageal neuroendocrine tumor confirmed neuroendocrine tumor of esophagus DOID:5784 DOID MONDO:0003649 esophageal neuroendocrine tumor oio:hasExactSynonym neuroendocrine tumour of oesophagus DOID:5784 esophageal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed neuroendocrine tumour of oesophagus DOID:5784 DOID MONDO:0003650 mixed hepatoblastoma oio:hasExactSynonym mixed epithelial and mesenchymal hepatoblastoma DOID:5789 mixed hepatoblastoma confirmed mixed epithelial and mesenchymal hepatoblastoma DOID:5789 DOID -MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid urolithiasis DOID:0080654 uric acid urolithiasis confirmed uric acid urolithiasis DOID:0080654 DOID MONDO:0003652 acute urate nephropathy oio:hasExactSynonym uric acid nephrolithiasis DOID:580 uric acid nephrolithiasis confirmed uric acid nephrolithiasis DOID:580 DOID MONDO:0003653 stork bite oio:hasExactSynonym Salmon patch nevus DOID:5806 stork bite confirmed Salmon patch nevus DOID:5806 DOID MONDO:0003653 stork bite oio:hasExactSynonym Unna's nevus DOID:5806 stork bite confirmed Unna's nevus DOID:5806 DOID @@ -11955,7 +11911,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breas MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis DOID:6003 aleukemic leukemia cutis confirmed aleukemic leukemia cutis DOID:6003 DOID MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia DOID:6004 aleukemic leukemia confirmed aleukemic leukemia DOID:6004 DOID MONDO:0003730 aleukemic leukemia oio:hasRelatedSynonym aleukemic myelosis DOID:6004 aleukemic leukemia confirmed aleukemic myelosis DOID:6004 DOID -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma central nervous system teratoma DOID:3640 central nervous system teratoma confirmed Central nervous system teratoma DOID:3640 DOID MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma DOID:6015 adult central nervous system teratoma confirmed adult central nervous system teratoma DOID:6015 DOID MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym teratoma of the adult central nervous system DOID:6015 adult central nervous system teratoma confirmed teratoma of the adult central nervous system DOID:6015 DOID MONDO:0003732 adult central nervous system mature teratoma oio:hasExactSynonym adult central nervous system mature teratoma DOID:6016 adult central nervous system mature teratoma confirmed adult central nervous system mature teratoma DOID:6016 DOID @@ -12059,7 +12014,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma DOID:6179 ovarian small cell carcinoma confirmed ovarian small cell carcinoma DOID:6179 DOID MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum DOID:6190 rectum Kaposi's sarcoma confirmed Kaposi's sarcoma of rectum DOID:6190 DOID MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectum Kaposi sarcoma DOID:6190 rectum Kaposi's sarcoma confirmed rectum Kaposi sarcoma DOID:6190 DOID -MONDO:0003799 conjunctivitis oio:hasExactSynonym pink eye pink eye Pink eye DOID:11213 acute contagious conjunctivitis confirmed pink eye DOID:11213 DOID MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis DOID:6195 conjunctivitis confirmed conjunctivitis DOID:6195 DOID MONDO:0003799 conjunctivitis oio:hasRelatedSynonym Madras eye DOID:6195 conjunctivitis confirmed Madras eye DOID:6195 DOID MONDO:0003800 conventional malignant hemangiopericytoma oio:hasExactSynonym conventional malignant hemangiopericytoma DOID:6197 conventional malignant hemangiopericytoma confirmed conventional malignant hemangiopericytoma DOID:6197 DOID @@ -12220,7 +12174,6 @@ MONDO:0003915 cortical thymoma oio:hasExactSynonym cortical thymoma DOID:6530 MONDO:0003915 cortical thymoma oio:hasExactSynonym polygonal cell thymoma polygonal cell thymoma Polygonal cell Thymoma DOID:6530 thymoma type B2 confirmed polygonal cell thymoma DOID:6530 DOID MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma type B2 DOID:6530 thymoma type B2 confirmed thymoma type B2 DOID:6530 DOID MONDO:0003915 cortical thymoma oio:hasExactSynonym thymoma, cortical thymoma, cortical Thymoma, cortical DOID:6530 thymoma type B2 confirmed thymoma, cortical DOID:6530 DOID -MONDO:0003917 heart lymphoma oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0003917 heart lymphoma oio:hasExactSynonym heart lymphoma DOID:6547 heart lymphoma confirmed heart lymphoma DOID:6547 DOID MONDO:0003917 heart lymphoma oio:hasExactSynonym lymphoma of heart lymphoma of heart Lymphoma of Heart DOID:6547 heart lymphoma confirmed lymphoma of heart DOID:6547 DOID MONDO:0003921 posterior foramen magnum meningioma oio:hasExactSynonym meningioma of the posterior Foramen magnum meningioma of the posterior Foramen magnum meningioma of the Posterior Foramen Magnum DOID:6553 posterior foramen magnum meningioma confirmed meningioma of the posterior Foramen magnum DOID:6553 DOID @@ -12290,11 +12243,9 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich syndrome DOID:6 MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froehlich's syndrome DOID:6676 Froelich syndrome confirmed Froehlich's syndrome DOID:6676 DOID MONDO:0003962 Froelich syndrome oio:hasExactSynonym Froelich's syndrome DOID:6676 Froelich syndrome confirmed Froelich's syndrome DOID:6676 DOID MONDO:0003962 Froelich syndrome oio:hasExactSynonym adiposogenital syndrome DOID:6676 Froelich syndrome confirmed adiposogenital syndrome DOID:6676 DOID -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva confirmed myositis ossificans progressiva DOID:13374 DOID MONDO:0003964 myositis ossificans oio:hasExactSynonym Myisitis ossificans DOID:668 myositis ossificans confirmed Myisitis ossificans DOID:668 DOID MONDO:0003964 myositis ossificans oio:hasExactSynonym ossification - muscle ossification - muscle Ossification - muscle DOID:668 myositis ossificans confirmed ossification - muscle DOID:668 DOID MONDO:0003965 Capgras syndrome oio:hasExactSynonym Capgras delusion theory DOID:6680 Capgras syndrome confirmed Capgras delusion theory DOID:6680 DOID -MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym gastric fundus cancer DOID:10538 gastric fundus cancer confirmed gastric fundus cancer DOID:10538 DOID MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach DOID:6700 gastric fundus carcinoma confirmed carcinoma of fundus of stomach DOID:6700 DOID MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym carcinoma of pylorus of stomach carcinoma of pylorus of stomach carcinoma of Pylorus of stomach DOID:6703 gastric pylorus carcinoma confirmed carcinoma of pylorus of stomach DOID:6703 DOID MONDO:0003971 gastric pylorus carcinoma oio:hasExactSynonym gastric pylorus carcinoma DOID:6703 gastric pylorus carcinoma confirmed gastric pylorus carcinoma DOID:6703 DOID @@ -12375,7 +12326,6 @@ MONDO:0004043 ureter inverted papilloma oio:hasExactSynonym ureteral inverted p MONDO:0004044 ureter urothelial papilloma oio:hasExactSynonym ureter urothelial papilloma DOID:6936 ureter urothelial papilloma confirmed ureter urothelial papilloma DOID:6936 DOID MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym childhood intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma confirmed childhood intraocular retinoblastoma DOID:6938 DOID MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym pediatric intraocular retinoblastoma DOID:6938 childhood intraocular retinoblastoma confirmed pediatric intraocular retinoblastoma DOID:6938 DOID -MONDO:0004046 childhood brain meningioma oio:hasExactSynonym Brain meningioma Brain meningioma brain meningioma DOID:0060106 brain meningioma confirmed Brain meningioma DOID:0060106 DOID MONDO:0004046 childhood brain meningioma oio:hasExactSynonym pediatric meningioma of brain DOID:6939 childhood brain meningioma confirmed pediatric meningioma of brain DOID:6939 DOID MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym neoplasm of sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm confirmed neoplasm of sphenoidal sinus DOID:6947 DOID MONDO:0004047 sphenoidal sinus neoplasm oio:hasExactSynonym tumor of sphenoidal sinus tumor of sphenoidal sinus tumor of Sphenoidal sinus DOID:6947 sphenoidal sinus benign neoplasm confirmed tumor of sphenoidal sinus DOID:6947 DOID @@ -12504,7 +12454,6 @@ MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immun MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym childhood CNS embryonal cell carcinoma DOID:7231 childhood CNS embryonal cell carcinoma confirmed childhood CNS embryonal cell carcinoma DOID:7231 DOID MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of pediatric CNS embryonal carcinoma of pediatric CNS Embryonal carcinoma of pediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma confirmed embryonal carcinoma of pediatric CNS DOID:7231 DOID MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of paediatric CNS embryonal carcinoma of paediatric CNS Embryonal carcinoma of paediatric CNS DOID:7231 childhood CNS embryonal cell carcinoma http://purl.obolibrary.org/obo/OMO_0003005 confirmed embryonal carcinoma of paediatric CNS DOID:7231 DOID -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma confirmed Central nervous system embryonal carcinoma DOID:7232 DOID MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym adult central nervous system embryonal carcinoma DOID:7233 adult central nervous system embryonal carcinoma confirmed adult central nervous system embryonal carcinoma DOID:7233 DOID MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal carcinoma of the adult central nervous system DOID:7233 adult central nervous system embryonal carcinoma confirmed embryonal carcinoma of the adult central nervous system DOID:7233 DOID MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas confirmed pancreatic mucinous cystadenocarcinoma DOID:7234 DOID @@ -12576,7 +12525,6 @@ MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym epididymis adeno MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor DOID:746 adenomatoid tumor confirmed adenomatoid tumor DOID:746 DOID MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma benign localized epithelial Mesothelioma DOID:746 adenomatoid tumor confirmed benign localized epithelial mesothelioma DOID:746 DOID MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localised epithelial mesothelioma benign localised epithelial mesothelioma benign localised epithelial Mesothelioma DOID:746 adenomatoid tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed benign localised epithelial mesothelioma DOID:746 DOID -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma DOID:3250 pleomorphic rhabdomyosarcoma confirmed Pleomorphic rhabdomyosarcoma DOID:3250 DOID MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma childhood anaplastic Rhabdomyosarcoma DOID:7463 childhood pleomorphic rhabdomyosarcoma confirmed childhood anaplastic rhabdomyosarcoma DOID:7463 DOID MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym NK-cell large granular lymphocyte lymphocytosis NK-cell large granular lymphocyte lymphocytosis NK-cell large granular Lymphocyte Lymphocytosis DOID:7465 chronic NK-cell lymphocytosis confirmed NK-cell large granular lymphocyte lymphocytosis DOID:7465 DOID MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym chronic NK-cell lymphocytosis DOID:7465 chronic NK-cell lymphocytosis confirmed chronic NK-cell lymphocytosis DOID:7465 DOID @@ -13368,7 +13316,6 @@ MONDO:0004898 total circumpapillary dystrophy of choroid oio:hasExactSynonym ci MONDO:0004901 lingual-facial-buccal dyskinesia oio:hasExactSynonym oro-facial dyskinesia oro-facial dyskinesia Oro-facial dyskinesia DOID:9854 lingual-facial-buccal dyskinesia confirmed oro-facial dyskinesia DOID:9854 DOID MONDO:0004904 toxic maculopathy oio:hasExactSynonym toxic maculopathy of retina toxic maculopathy of retina Toxic maculopathy of retina DOID:9867 toxic maculopathy confirmed toxic maculopathy of retina DOID:9867 DOID MONDO:0004907 alopecia oio:hasExactSynonym alopecia DOID:987 alopecia confirmed alopecia DOID:987 DOID -MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse syndrome DOID:0111154 postural orthostatic tachycardia syndrome confirmed mitral valve prolapse syndrome DOID:0111154 DOID MONDO:0004910 mitral valve prolapse oio:hasExactSynonym barlow's syndrome barlow's syndrome Barlow's syndrome DOID:988 mitral valve prolapse confirmed barlow's syndrome DOID:988 DOID MONDO:0004910 mitral valve prolapse oio:hasExactSynonym floppy mitral valve DOID:988 mitral valve prolapse confirmed floppy mitral valve DOID:988 DOID MONDO:0004910 mitral valve prolapse oio:hasExactSynonym mitral valve prolapse DOID:988 mitral valve prolapse confirmed mitral valve prolapse DOID:988 DOID @@ -13448,14 +13395,12 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease DOID:10652 Alzheimer's disease confirmed Alzheimer disease DOID:10652 DOID MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease DOID:10652 Alzheimer's disease confirmed Alzheimer's disease DOID:10652 DOID MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimers dementia DOID:10652 Alzheimer's disease confirmed Alzheimers dementia DOID:10652 DOID -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed amyotrophic lateral sclerosis DOID:0111227 DOID MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig's disease DOID:332 amyotrophic lateral sclerosis confirmed Lou Gehrig's disease DOID:332 DOID MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym motor neuron disease, bulbar DOID:332 amyotrophic lateral sclerosis confirmed motor neuron disease, bulbar DOID:332 DOID MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed amyotrophic lateral sclerosis DOID:332 DOID MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS DOID:332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALS DOID:332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma DOID:0111147 angioimmunoblastic T-cell lymphoma confirmed angioimmunoblastic T-cell lymphoma DOID:0111147 DOID MONDO:0004979 asthma oio:hasExactSynonym bronchial hyperreactivity DOID:2841 asthma confirmed bronchial hyperreactivity DOID:2841 DOID -MONDO:0004980 atopic eczema oio:hasExactSynonym eczema DOID:2723 dermatitis confirmed eczema DOID:2723 DOID MONDO:0004980 atopic eczema oio:hasExactSynonym Besnier's prurigo DOID:3310 atopic dermatitis confirmed Besnier's prurigo DOID:3310 DOID MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis DOID:3310 atopic dermatitis confirmed allergic dermatitis DOID:3310 DOID MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis DOID:3310 atopic dermatitis confirmed atopic dermatitis DOID:3310 DOID @@ -13664,8 +13609,6 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcino MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma squamous cell Epithelioma DOID:1749 squamous cell carcinoma confirmed squamous cell epithelioma DOID:1749 DOID MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell carcinoma of the lung epidermoid cell carcinoma of the lung Epidermoid cell carcinoma of the lung DOID:3907 lung squamous cell carcinoma confirmed epidermoid cell carcinoma of the lung DOID:3907 DOID MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym lung squamous cell carcinoma DOID:3907 lung squamous cell carcinoma confirmed lung squamous cell carcinoma DOID:3907 DOID -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy confirmed diffuse sclerosis DOID:10588 DOID -MONDO:0005100 systemic sclerosis oio:hasExactSynonym diffuse Scleroderma diffuse Scleroderma diffuse scleroderma DOID:1580 diffuse scleroderma confirmed diffuse Scleroderma DOID:1580 DOID MONDO:0005100 systemic sclerosis oio:hasExactSynonym Scleroderma syndrome DOID:418 systemic scleroderma confirmed Scleroderma syndrome DOID:418 DOID MONDO:0005100 systemic sclerosis oio:hasExactSynonym Systemic Scleroderma Systemic Scleroderma systemic scleroderma DOID:418 systemic scleroderma confirmed Systemic Scleroderma DOID:418 DOID MONDO:0005100 systemic sclerosis oio:hasExactSynonym progressive systemic sclerosis DOID:418 systemic scleroderma confirmed progressive systemic sclerosis DOID:418 DOID @@ -13803,7 +13746,6 @@ MONDO:0005215 vulvar carcinoma oio:hasExactSynonym vulvar carcinoma vulvar carc MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym breast fibrocystic change breast fibrocystic change breast Fibrocystic Change DOID:10354 breast fibrocystic disease confirmed breast fibrocystic change DOID:10354 DOID MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym diffuse cystic mastopathy diffuse cystic mastopathy Diffuse cystic mastopathy DOID:10354 breast fibrocystic disease confirmed diffuse cystic mastopathy DOID:10354 DOID MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic disease of breast DOID:10354 breast fibrocystic disease confirmed fibrocystic disease of breast DOID:10354 DOID -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym BDC DOID:0110970 brachydactyly type C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BDC DOID:0110970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct carcinoma of renal Collecting duct DOID:4464 collecting duct carcinoma confirmed carcinoma of renal collecting duct DOID:4464 DOID MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym collecting duct carcinoma DOID:4464 collecting duct carcinoma confirmed collecting duct carcinoma DOID:4464 DOID MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym renal carcinoma, collecting duct type DOID:4464 collecting duct carcinoma confirmed renal carcinoma, collecting duct type DOID:4464 DOID @@ -13839,7 +13781,6 @@ MONDO:0005264 transient ischemic attack oio:hasExactSynonym transient ischemic MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA - transient ischaemic attack TIA - transient ischaemic attack TIA - Transient ischaemic attack DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed TIA - transient ischaemic attack DOID:224 DOID MONDO:0005264 transient ischemic attack oio:hasExactSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease DOID:0050589 inflammatory bowel disease confirmed inflammatory bowel disease DOID:0050589 DOID -MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym IBD DOID:9778 irritable bowel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IBD DOID:9778 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005266 diabetic retinopathy oio:hasExactSynonym retinal abnormality - diabetes-related retinal abnormality - diabetes-related Retinal abnormality - diabetes-related DOID:8947 diabetic retinopathy confirmed retinal abnormality - diabetes-related DOID:8947 DOID MONDO:0005267 heart disorder oio:hasExactSynonym heart disease DOID:114 heart disease confirmed heart disease DOID:114 DOID MONDO:0005269 carotid artery disorder oio:hasExactSynonym disorder of carotid artery DOID:3407 carotid artery disease confirmed disorder of carotid artery DOID:3407 DOID @@ -14099,7 +14040,6 @@ MONDO:0005555 cycloplegia oio:hasExactSynonym paresis of accommodation paresis MONDO:0005556 lupus nephritis oio:hasExactSynonym lupus nephritis DOID:0080162 lupus nephritis confirmed lupus nephritis DOID:0080162 DOID MONDO:0005558 ovarian disorder oio:hasExactSynonym ovarian disease DOID:1100 ovarian disease confirmed ovarian disease DOID:1100 DOID MONDO:0005559 neurodegenerative disease oio:hasExactSynonym neurodegenerative disease DOID:1289 neurodegenerative disease confirmed neurodegenerative disease DOID:1289 DOID -MONDO:0005559 neurodegenerative disease oio:hasExactSynonym brain degeneration brain degeneration Brain degeneration DOID:1443 cerebral degeneration confirmed brain degeneration DOID:1443 DOID MONDO:0005560 brain disorder oio:hasExactSynonym brain disease DOID:936 brain disease confirmed brain disease DOID:936 DOID MONDO:0005561 aortic disorder oio:hasExactSynonym aortic disorder DOID:520 aortic disease confirmed aortic disorder DOID:520 DOID MONDO:0005561 aortic disorder oio:hasExactSynonym disorder of the aorta DOID:520 aortic disease confirmed disorder of the aorta DOID:520 DOID @@ -14164,7 +14104,6 @@ MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder DOID:2030 MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety state DOID:2030 anxiety disorder confirmed anxiety state DOID:2030 DOID MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid typhoid Typhoid DOID:13258 typhoid fever confirmed typhoid DOID:13258 DOID MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever DOID:13258 typhoid fever confirmed typhoid fever DOID:13258 DOID -MONDO:0005620 cerebral amyloid angiopathy oio:hasExactSynonym HCHWA DOID:0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCHWA DOID:0070027 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005625 cerebral malaria oio:hasExactSynonym malarial encephalitis malarial encephalitis Malarial encephalitis DOID:14069 cerebral malaria confirmed malarial encephalitis DOID:14069 DOID MONDO:0005627 head and neck cancer oio:hasExactSynonym head and neck cancer DOID:11934 head and neck cancer confirmed head and neck cancer DOID:11934 DOID MONDO:0005628 male breast carcinoma oio:hasExactSynonym Male breast cancer Male breast cancer male breast cancer DOID:1614 male breast cancer confirmed Male breast cancer DOID:1614 DOID @@ -14369,10 +14308,10 @@ MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym mycotic mycetoma mycotic m MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian elephantiasis DOID:12211 filarial elephantiasis confirmed Bancroftian elephantiasis DOID:12211 DOID MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian filarial chyluria DOID:12211 filarial elephantiasis confirmed Bancroftian filarial chyluria DOID:12211 DOID MONDO:0005761 filarial elephantiasis oio:hasExactSynonym elephantiasis of eyelid DOID:12211 filarial elephantiasis confirmed elephantiasis of eyelid DOID:12211 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumour follicular dendritic cell tumour Follicular dendritic cell tumour DOID:6262 follicular dendritic cell sarcoma http://purl.obolibrary.org/obo/OMO_0003005 confirmed follicular dendritic cell tumour DOID:6262 DOID MONDO:0005767 gas gangrene oio:hasExactSynonym gas bacillus infection gas bacillus infection Gas bacillus infection DOID:9159 gas gangrene confirmed gas bacillus infection DOID:9159 DOID MONDO:0005767 gas gangrene oio:hasExactSynonym gas gangrene DOID:9159 gas gangrene confirmed gas gangrene DOID:9159 DOID @@ -14428,7 +14367,6 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant hypopharyngeal t MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypopharynx DOID:8533 hypopharynx cancer confirmed malignant neoplasm of hypopharynx DOID:8533 DOID MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx DOID:8533 hypopharynx cancer confirmed malignant tumor of hypopharynx DOID:8533 DOID MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumour of hypopharynx DOID:8533 hypopharynx cancer http://purl.obolibrary.org/obo/OMO_0003005 confirmed malignant tumour of hypopharynx DOID:8533 DOID -MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma Trachoma trachoma DOID:11265 trachoma confirmed Trachoma DOID:11265 DOID MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis DOID:13800 inclusion conjunctivitis confirmed Chlamydial conjunctivitis DOID:13800 DOID MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym adult inclusion conjunctivitis DOID:13800 inclusion conjunctivitis confirmed adult inclusion conjunctivitis DOID:13800 DOID MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym inclusion blennorrhoea inclusion blennorrhoea Inclusion blennorrhoea DOID:13800 inclusion conjunctivitis confirmed inclusion blennorrhoea DOID:13800 DOID @@ -14569,8 +14507,6 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell car MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant neoplasm of islets of Langerhans DOID:1798 pancreatic endocrine carcinoma confirmed malignant neoplasm of islets of Langerhans DOID:1798 DOID MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic endocrine carcinoma DOID:1798 pancreatic endocrine carcinoma confirmed pancreatic endocrine carcinoma DOID:1798 DOID MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic neuroendocrine carcinoma DOID:1798 pancreatic endocrine carcinoma confirmed pancreatic neuroendocrine carcinoma DOID:1798 DOID -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor malignant pancreatic Endocrine tumor DOID:1799 islet cell tumor confirmed malignant pancreatic endocrine tumor DOID:1799 DOID -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumour malignant pancreatic endocrine tumour malignant pancreatic Endocrine tumour DOID:1799 islet cell tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed malignant pancreatic endocrine tumour DOID:1799 DOID MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym mucocutaneous-lymphangitic paracoccidioidomycosis mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 paracoccidioidomycosis confirmed mucocutaneous-lymphangitic paracoccidioidomycosis DOID:12662 DOID MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym paracoccidioidal mycosis DOID:12662 paracoccidioidomycosis confirmed paracoccidioidal mycosis DOID:12662 DOID MONDO:0005895 paragonimiasis oio:hasExactSynonym infection by Paragonimus infection by Paragonimus Infection by Paragonimus DOID:10699 paragonimiasis confirmed infection by Paragonimus DOID:10699 DOID @@ -14713,7 +14649,6 @@ MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidal vulvovagini MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym candidiasis of vulva and vagina candidiasis of vulva and vagina Candidiasis of vulva and vagina DOID:2272 vulvovaginal candidiasis confirmed candidiasis of vulva and vagina DOID:2272 DOID MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym monilial vulvovaginitis monilial vulvovaginitis Monilial vulvovaginitis DOID:2272 vulvovaginal candidiasis confirmed monilial vulvovaginitis DOID:2272 DOID MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vulvovaginal candidiasis DOID:2272 vulvovaginal candidiasis confirmed vulvovaginal candidiasis DOID:2272 DOID -MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0006015 Waterhouse-Friderichsen syndrome oio:hasExactSynonym meningococcal hemorrhagic adrenalitis meningococcal hemorrhagic adrenalitis Meningococcal hemorrhagic adrenalitis DOID:9931 Waterhouse-Friderichsen syndrome confirmed meningococcal hemorrhagic adrenalitis DOID:9931 DOID MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's subsepsis allergica DOID:3047 Wissler-Fanconi syndrome confirmed Wissler's subsepsis allergica DOID:3047 DOID MONDO:0006018 Wissler syndrome oio:hasExactSynonym Wissler's syndrome DOID:3047 Wissler-Fanconi syndrome confirmed Wissler's syndrome DOID:3047 DOID @@ -14783,7 +14718,6 @@ MONDO:0006091 appendix neuroendocrine tumor G1 oio:hasExactSynonym appendix car MONDO:0006094 Askin tumor oio:hasExactSynonym Askin tumor DOID:0050608 Askin's tumor confirmed Askin tumor DOID:0050608 DOID MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumor DOID:0050608 Askin's tumor confirmed Askin's tumor DOID:0050608 DOID MONDO:0006094 Askin tumor oio:hasExactSynonym Askin's tumour DOID:0050608 Askin's tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed Askin's tumour DOID:0050608 DOID -MONDO:0006094 Askin tumor oio:hasExactSynonym PNET of thoracopulmonary region PNET of thoracopulmonary region PNET of Thoracopulmonary Region DOID:3369 Ewing sarcoma confirmed PNET of thoracopulmonary region DOID:3369 DOID MONDO:0006108 bile duct adenoma oio:hasExactSynonym Cholangioadenoma DOID:5381 bile duct adenoma confirmed Cholangioadenoma DOID:5381 DOID MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma DOID:5381 bile duct adenoma confirmed bile duct adenoma DOID:5381 DOID MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym malignant biphasic mesothelioma DOID:4486 malignant biphasic mesothelioma confirmed malignant biphasic mesothelioma DOID:4486 DOID @@ -14880,8 +14814,6 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym Her2-receptor MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma confirmed Renal Medullary Carcinoma DOID:0070475 DOID MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym kidney medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma confirmed kidney medullary carcinoma DOID:0070475 DOID MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma confirmed renal medullary carcinoma DOID:0070475 DOID -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma confirmed Renal Medullary Carcinoma DOID:4464 DOID -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma confirmed renal medullary carcinoma DOID:4464 DOID MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym lacrimal gland adenoid cystic carcinoma DOID:4870 lacrimal gland adenoid cystic carcinoma confirmed lacrimal gland adenoid cystic carcinoma DOID:4870 DOID MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of larynx adenoid cystic carcinoma of larynx adenoid cystic carcinoma of Larynx DOID:4869 laryngeal adenoid cystic carcinoma confirmed adenoid cystic carcinoma of larynx DOID:4869 DOID MONDO:0006264 laryngeal adenoid cystic carcinoma oio:hasExactSynonym laryngeal adenoid cystic carcinoma DOID:4869 laryngeal adenoid cystic carcinoma confirmed laryngeal adenoid cystic carcinoma DOID:4869 DOID @@ -15047,7 +14979,6 @@ MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureter small cell MONDO:0006482 ureter small cell carcinoma oio:hasExactSynonym ureteral small cell carcinoma DOID:6886 ureter small cell carcinoma confirmed ureteral small cell carcinoma DOID:6886 DOID MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym mixed mullerian sarcoma of uterus DOID:6171 uterine carcinosarcoma confirmed mixed mullerian sarcoma of uterus DOID:6171 DOID MONDO:0006485 uterine carcinosarcoma oio:hasExactSynonym uterine carcinosarcoma DOID:6171 uterine carcinosarcoma confirmed uterine carcinosarcoma DOID:6171 DOID -MONDO:0006486 uveal melanoma oio:hasExactSynonym intraocular melanoma DOID:1752 ocular melanoma confirmed intraocular melanoma DOID:1752 DOID MONDO:0006486 uveal melanoma oio:hasExactSynonym melanoma of uvea melanoma of uvea melanoma of Uvea DOID:6039 uveal melanoma confirmed melanoma of uvea DOID:6039 DOID MONDO:0006486 uveal melanoma oio:hasExactSynonym uveal melanoma DOID:6039 uveal melanoma confirmed uveal melanoma DOID:6039 DOID MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym vaginal carcinosarcoma DOID:136 vaginal carcinosarcoma confirmed vaginal carcinosarcoma DOID:136 DOID @@ -15130,7 +15061,6 @@ MONDO:0006574 lipomatosis oio:hasExactSynonym lipomatosis DOID:3153 lipomatos MONDO:0006576 Ludwig's angina oio:hasExactSynonym Ludwig angina DOID:4558 Ludwig's angina confirmed Ludwig angina DOID:4558 DOID MONDO:0006576 Ludwig's angina oio:hasExactSynonym cellulitis of floor of mouth DOID:4558 Ludwig's angina confirmed cellulitis of floor of mouth DOID:4558 DOID MONDO:0006578 mediastinal lipomatosis oio:hasExactSynonym mediastinal lipomatosis DOID:3926 mediastinal lipomatosis confirmed mediastinal lipomatosis DOID:3926 DOID -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat DOID:11153 miliaria rubra confirmed prickly heat DOID:11153 DOID MONDO:0006580 miliaria oio:hasExactSynonym heat rash DOID:1382 miliaria confirmed heat rash DOID:1382 DOID MONDO:0006582 mongolian spot oio:hasExactSynonym Mongolian macula Mongolian macula Mongolian Macula DOID:4702 mongolian spot confirmed Mongolian macula DOID:4702 DOID MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica DOID:3486 necrobiosis lipoidica confirmed necrobiosis lipoidica DOID:3486 DOID @@ -15147,7 +15077,6 @@ MONDO:0006593 pelvic lipomatosis oio:hasExactSynonym pelvic lipomatosis DOID: MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic contact dermatitis photoallergic contact dermatitis Photoallergic contact dermatitis DOID:3818 photoallergic dermatitis confirmed photoallergic contact dermatitis DOID:3818 DOID MONDO:0006596 photoallergic dermatitis oio:hasExactSynonym photoallergic eczema photoallergic eczema Photoallergic eczema DOID:3818 photoallergic dermatitis confirmed photoallergic eczema DOID:3818 DOID MONDO:0006597 photosensitivity disease oio:hasExactSynonym photodermatitis photodermatitis Photodermatitis DOID:3159 photosensitivity disease confirmed photodermatitis DOID:3159 DOID -MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photodermatitis DOID:3159 photosensitivity disease confirmed Photodermatitis DOID:3159 DOID MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photosensitisation reaction DOID:4407 phototoxic dermatitis confirmed Photosensitisation reaction DOID:4407 DOID MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitive dermatitis photosensitive dermatitis Photosensitive Dermatitis DOID:4407 phototoxic dermatitis confirmed photosensitive dermatitis DOID:4407 DOID MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitiveness photosensitiveness Photosensitiveness DOID:4407 phototoxic dermatitis confirmed photosensitiveness DOID:4407 DOID @@ -15165,7 +15094,6 @@ MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym Seborrhoeic eczema DO MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrhea DOID:8741 seborrheic dermatitis confirmed seborrhea DOID:8741 DOID MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym seborrheic dermatitis DOID:8741 seborrheic dermatitis confirmed seborrheic dermatitis DOID:8741 DOID MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym skin seborrheic skin seborrheic SKIN SEBORRHEIC DOID:8741 seborrheic dermatitis confirmed skin seborrheic DOID:8741 DOID -MONDO:0006608 seborrheic dermatitis oio:hasExactSynonym cradle Cap cradle Cap cradle cap DOID:8941 seborrheic infantile dermatitis confirmed cradle Cap DOID:8941 DOID MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoea capitis DOID:8941 seborrheic infantile dermatitis confirmed Seborrhoea capitis DOID:8941 DOID MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic dermatitis of scalp DOID:8941 seborrheic infantile dermatitis confirmed Seborrhoeic dermatitis of scalp DOID:8941 DOID MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym Seborrhoeic eczema of scalp DOID:8941 seborrheic infantile dermatitis confirmed Seborrhoeic eczema of scalp DOID:8941 DOID @@ -15202,7 +15130,6 @@ MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal fai MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis DOID:12556 acute kidney tubular necrosis confirmed acute tubular necrosis DOID:12556 DOID MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubule necrosis DOID:12556 acute kidney tubular necrosis confirmed acute tubule necrosis DOID:12556 DOID MONDO:0006638 acute retinal necrosis syndrome oio:hasExactSynonym acute retinal necrosis DOID:3611 acute retinal necrosis syndrome confirmed acute retinal necrosis DOID:3611 DOID -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma adenoid cystic carcinoma DOID:0080202 adenoid cystic carcinoma confirmed Adenoid Cystic Carcinoma DOID:0080202 DOID MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma DOID:3948 adrenocortical carcinoma confirmed adrenal cortical carcinoma DOID:3948 DOID MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma DOID:3948 adrenocortical carcinoma confirmed adrenocortical carcinoma DOID:3948 DOID MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym carcinoma of the adrenal cortex carcinoma of the adrenal cortex carcinoma of the Adrenal cortex DOID:3948 adrenocortical carcinoma confirmed carcinoma of the adrenal cortex DOID:3948 DOID @@ -15313,7 +15240,6 @@ MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome D MONDO:0006742 endemic goiter oio:hasExactSynonym iodine-deficiency-related endemic goitre iodine-deficiency-related endemic goitre Iodine-deficiency-related endemic goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 confirmed iodine-deficiency-related endemic goitre DOID:13198 DOID MONDO:0006742 endemic goiter oio:hasExactSynonym simple goitre DOID:13198 endemic goiter http://purl.obolibrary.org/obo/OMO_0003005 confirmed simple goitre DOID:13198 DOID MONDO:0006744 endolymphatic hydrops oio:hasExactSynonym labyrinthine hydrops DOID:9848 endolymphatic hydrops confirmed labyrinthine hydrops DOID:9848 DOID -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome Empty Sella Syndrome empty sella syndrome DOID:3642 empty sella syndrome confirmed Empty Sella Syndrome DOID:3642 DOID MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma DOID:4226 endometrial stromal sarcoma confirmed endometrial stromal sarcoma DOID:4226 DOID MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma, high grade DOID:4226 endometrial stromal sarcoma confirmed endometrial stromal sarcoma, high grade DOID:4226 DOID MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym undifferentiated endometrial sarcoma undifferentiated endometrial sarcoma Undifferentiated endometrial sarcoma DOID:4226 endometrial stromal sarcoma confirmed undifferentiated endometrial sarcoma DOID:4226 DOID @@ -15491,7 +15417,6 @@ MONDO:0006882 orchitis oio:hasExactSynonym Inflammation of testis DOID:2518 o MONDO:0006882 orchitis oio:hasExactSynonym Orchititis DOID:2518 orchitis confirmed Orchititis DOID:2518 DOID MONDO:0006882 orchitis oio:hasExactSynonym inflammation of testis inflammation of testis Inflammation of testis DOID:2518 orchitis confirmed inflammation of testis DOID:2518 DOID MONDO:0006882 orchitis oio:hasExactSynonym orchitis DOID:2518 orchitis confirmed orchitis DOID:2518 DOID -MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast's tumor DOID:4876 trachea carcinoma confirmed Pancoast's tumor DOID:4876 DOID MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym Pancoast tumor DOID:8007 Pancoast tumor confirmed Pancoast tumor DOID:8007 DOID MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym malignant Superior sulcus tumor malignant Superior sulcus tumor malignant Superior Sulcus tumor DOID:8007 Pancoast tumor confirmed malignant Superior sulcus tumor DOID:8007 DOID MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym superior pulmonary sulcus syndrome superior pulmonary sulcus syndrome Superior pulmonary sulcus syndrome DOID:8007 Pancoast tumor confirmed superior pulmonary sulcus syndrome DOID:8007 DOID @@ -15504,7 +15429,6 @@ MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym adenoma of the para MONDO:0006890 parathyroid gland adenoma oio:hasExactSynonym parathyroid adenoma DOID:7608 parathyroid adenoma confirmed parathyroid adenoma DOID:7608 DOID MONDO:0006891 partial motor epilepsy oio:hasExactSynonym epilepsy, focal motor DOID:3327 partial motor epilepsy confirmed epilepsy, focal motor DOID:3327 DOID MONDO:0006891 partial motor epilepsy oio:hasExactSynonym focal motor seizure focal motor seizure Focal motor seizure DOID:3327 partial motor epilepsy confirmed focal motor seizure DOID:3327 DOID -MONDO:0006895 penile neoplasm oio:hasExactSynonym penile neoplasm DOID:11615 penile cancer confirmed penile neoplasm DOID:11615 DOID MONDO:0006895 penile neoplasm oio:hasExactSynonym neoplasm of penis DOID:11624 penile benign neoplasm confirmed neoplasm of penis DOID:11624 DOID MONDO:0006895 penile neoplasm oio:hasExactSynonym penile tumor penile tumor Penile tumor DOID:11624 penile benign neoplasm confirmed penile tumor DOID:11624 DOID MONDO:0006896 peptic esophagitis oio:hasExactSynonym peptic esophagitis DOID:13976 peptic esophagitis confirmed peptic esophagitis DOID:13976 DOID @@ -15724,8 +15648,6 @@ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym amyloidosis, MERETOJ MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym gelsolin amyloidosis DOID:0050637 Finnish type amyloidosis confirmed gelsolin amyloidosis DOID:0050637 DOID MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis VI amyloidosis VI Amyloidosis VI DOID:0070027 CST3-related cerebral amyloid angiopathy confirmed amyloidosis VI DOID:0070027 DOID MONDO:0007098 ACys amyloidosis oio:hasExactSynonym amyloidosis, Cerebroarterial, Icelandic type amyloidosis, Cerebroarterial, Icelandic type Amyloidosis, Cerebroarterial, Icelandic Type DOID:0070027 CST3-related cerebral amyloid angiopathy confirmed amyloidosis, Cerebroarterial, Icelandic type DOID:0070027 DOID -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cerebral hemorrhage, hereditary, with amyloidosis cerebral hemorrhage, hereditary, with amyloidosis Cerebral Hemorrhage, Hereditary, with Amyloidosis DOID:9246 cerebral amyloid angiopathy confirmed cerebral hemorrhage, hereditary, with amyloidosis DOID:9246 DOID -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis DOID:9246 cerebral amyloid angiopathy confirmed hereditary cerebral hemorrhage with amyloidosis DOID:9246 DOID MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym German type amyloidosis DOID:0050636 familial visceral amyloidosis confirmed German type amyloidosis DOID:0050636 DOID MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym Ostertag type amyloidosis Ostertag type amyloidosis OSTERTAG TYPE AMYLOIDOSIS DOID:0050636 familial visceral amyloidosis confirmed Ostertag type amyloidosis DOID:0050636 DOID MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, familial renal amyloidosis, familial renal AMYLOIDOSIS, FAMILIAL RENAL DOID:0050636 familial visceral amyloidosis confirmed amyloidosis, familial renal DOID:0050636 DOID @@ -15867,7 +15789,6 @@ MONDO:0007222 brachydactyly type D oio:hasExactSynonym BDD DOID:0110971 brach MONDO:0007223 brachydactyly type E1 oio:hasExactSynonym BDE1 DOID:0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BDE1 DOID:0110972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym branchiooculofacial syndrome DOID:0050691 branchiooculofacial syndrome confirmed branchiooculofacial syndrome DOID:0050691 DOID MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed branchiootorenal syndrome 1 DOID:0111423 DOID -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma DOID:0060877 bullous congenital ichthyosiform erythroderma confirmed bullous congenital ichthyosiform erythroderma DOID:0060877 DOID MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis DOID:4603 epidermolytic hyperkeratosis confirmed epidermolytic hyperkeratosis DOID:4603 DOID MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis DOID:4603 epidermolytic hyperkeratosis confirmed epidermolytic ichthyosis DOID:4603 DOID MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic palmoplantar hyperkeratosis epidermolytic palmoplantar hyperkeratosis Epidermolytic palmoplantar hyperkeratosis DOID:4603 epidermolytic hyperkeratosis confirmed epidermolytic palmoplantar hyperkeratosis DOID:4603 DOID @@ -16071,7 +15992,6 @@ MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym MECD DOID:006045 MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy DOID:0070337 epithelial recurrent erosion dystrophy confirmed epithelial recurrent erosion dystrophy DOID:0070337 DOID MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED DOID:0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ERED DOID:0070337 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Cornelia de Lange syndrome 1 DOID:0080505 DOID -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed spondylothoracic dysostosis DOID:0050568 DOID MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 DOID:0112363 spondylocostal dysostosis 5 confirmed spondylocostal dysostosis 5 DOID:0112363 DOID MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 DOID:0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCDO5 DOID:0112363 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym Sommer-Young-Wee-Frye syndrome DOID:0111336 craniofacial-deafness-hand syndrome confirmed Sommer-Young-Wee-Frye syndrome DOID:0111336 DOID @@ -16214,10 +16134,7 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self-healing epithelioma of Ferguson-Smith multiple self-healing epithelioma of Ferguson-Smith Multiple self-healing epithelioma of Ferguson-Smith DOID:5585 Ferguson-Smith tumor confirmed multiple self-healing epithelioma of Ferguson-Smith DOID:5585 DOID MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis 1 DOID:0060652 familial erythrocytosis 1 confirmed familial erythrocytosis 1 DOID:0060652 DOID MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym primary familial and congenital polycythemia DOID:0060652 familial erythrocytosis 1 confirmed primary familial and congenital polycythemia DOID:0060652 DOID -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym familial erythrocytosis DOID:10780 primary polycythemia confirmed familial erythrocytosis DOID:10780 DOID MONDO:0007574 spinocerebellar ataxia type 34 oio:hasExactSynonym spinocerebellar ataxia type 34 DOID:0050981 spinocerebellar ataxia type 34 confirmed spinocerebellar ataxia type 34 DOID:0050981 DOID -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus DOID:1107 esophageal carcinoma confirmed cancer of esophagus DOID:1107 DOID -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 confirmed cancer of oesophagus DOID:1107 DOID MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer DOID:5041 esophageal cancer confirmed esophageal cancer DOID:5041 DOID MONDO:0007576 esophageal cancer oio:hasExactSynonym esophagus cancer DOID:5041 esophageal cancer confirmed esophagus cancer DOID:5041 DOID MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym exudative vitreoretinopathy 1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed exudative vitreoretinopathy 1 DOID:0111412 DOID @@ -16303,7 +16220,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym hypoplastic MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed renal cysts and diabetes syndrome DOID:0111101 DOID MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MODY5 DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD DOID:0111101 maturity-onset diabetes of the young type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCAD DOID:0111101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation DOID:2436 glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed glomuvenous malformation DOID:2436 DOID MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma DOID:7996 familial glomangioma confirmed familial glomangioma DOID:7996 DOID MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet alpha-granule deficiency DOID:0111044 gray platelet syndrome confirmed platelet alpha-granule deficiency DOID:0111044 DOID MONDO:0007686 gray platelet syndrome oio:hasExactSynonym platelet-type bleeding disorder 4 DOID:0111044 gray platelet syndrome confirmed platelet-type bleeding disorder 4 DOID:0111044 DOID @@ -16383,7 +16299,6 @@ MONDO:0007753 Frey syndrome oio:hasExactSynonym Baillarger syndrome DOID:1159 MONDO:0007753 Frey syndrome oio:hasExactSynonym Frey syndrome DOID:11599 Frey syndrome confirmed Frey syndrome DOID:11599 DOID MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory hyperhidrosis DOID:11599 Frey syndrome confirmed gustatory hyperhidrosis DOID:11599 DOID MONDO:0007753 Frey syndrome oio:hasExactSynonym gustatory sweating DOID:11599 Frey syndrome confirmed gustatory sweating DOID:11599 DOID -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym EPPK DOID:0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPPK DOID:0080223 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial APOA5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency confirmed familial APOA5 deficiency DOID:0111421 DOID MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein A-V deficiency DOID:0111421 familial apolipoprotein A5 deficiency confirmed familial apolipoprotein A-V deficiency DOID:0111421 DOID MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym familial apolipoprotein a5 deficiency familial apolipoprotein a5 deficiency familial apolipoprotein A5 deficiency DOID:0111421 familial apolipoprotein A5 deficiency confirmed familial apolipoprotein a5 deficiency DOID:0111421 DOID @@ -16516,7 +16431,6 @@ MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leuk MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, FAB M5 DOID:8864 acute monocytic leukemia confirmed acute monocytic leukemia, FAB M5 DOID:8864 DOID MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia, morphology DOID:8864 acute monocytic leukemia confirmed acute monocytic leukemia, morphology DOID:8864 DOID MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukaemia without mention of remission DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed acute monocytic leukaemia without mention of remission DOID:8864 DOID -MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym Dunnigan syndrome Dunnigan syndrome Dunnigan Syndrome DOID:0050440 familial partial lipodystrophy confirmed Dunnigan syndrome DOID:0050440 DOID MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial lipodystrophy of limbs and lower trunk DOID:0070202 familial partial lipodystrophy type 2 confirmed familial lipodystrophy of limbs and lower trunk DOID:0070202 DOID MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy Dunnigan type DOID:0070202 familial partial lipodystrophy type 2 confirmed familial partial lipodystrophy Dunnigan type DOID:0070202 DOID MONDO:0007906 familial partial lipodystrophy, Dunnigan type oio:hasExactSynonym familial partial lipodystrophy type 2 DOID:0070202 familial partial lipodystrophy type 2 confirmed familial partial lipodystrophy type 2 DOID:0070202 DOID @@ -16529,7 +16443,6 @@ MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipodystrophy, MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym lipomatosis, familial benign cervical lipomatosis, familial benign cervical LIPOMATOSIS, FAMILIAL BENIGN CERVICAL DOID:14116 multiple symmetric lipomatosis confirmed lipomatosis, familial benign cervical DOID:14116 DOID MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetric lipomatosis DOID:14116 multiple symmetric lipomatosis confirmed multiple symmetric lipomatosis DOID:14116 DOID MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis DOID:14116 multiple symmetric lipomatosis confirmed multiple symmetrical lipomatosis DOID:14116 DOID -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus Lupus lupus DOID:8857 lupus erythematosus confirmed Lupus DOID:8857 DOID MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus confirmed SLE - lupus erythematosus, systemic DOID:9074 DOID MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lupus erythematosus DOID:9074 systemic lupus erythematosus confirmed disseminated lupus erythematosus DOID:9074 DOID MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym lupus erythematosus, systemic lupus erythematosus, systemic Lupus Erythematosus, systemic DOID:9074 systemic lupus erythematosus confirmed lupus erythematosus, systemic DOID:9074 DOID @@ -16652,7 +16565,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome DOID:0060888 transient myeloproliferative syndrome confirmed transient myeloproliferative syndrome DOID:0060888 DOID MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TAM DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD DOID:0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD DOID:0111078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym myoclonic dystonia 11 DOID:0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed myoclonic dystonia 11 DOID:0090034 DOID MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy confirmed Jankovic-Rivera syndrome DOID:0111527 DOID MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy confirmed hereditary myoclonus-progressive distal muscular atrophy syndrome DOID:0111527 DOID @@ -16719,7 +16631,6 @@ MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym neutropenia, periodic ne MONDO:0008093 nevus, epidermal oio:hasExactSynonym Epidermal Nevus Epidermal Nevus epidermal nevus DOID:0111162 epidermal nevus confirmed Epidermal Nevus DOID:0111162 DOID MONDO:0008093 nevus, epidermal oio:hasExactSynonym nonepidermolytic keratinocytic nevus DOID:0111162 epidermal nevus confirmed nonepidermolytic keratinocytic nevus DOID:0111162 DOID MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym familial multiple port-wine stains DOID:0111529 familial multiple nevi flammei confirmed familial multiple port-wine stains DOID:0111529 DOID -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym Salmon patch Nevus Salmon patch Nevus Salmon patch nevus DOID:5806 stork bite confirmed Salmon patch Nevus DOID:5806 DOID MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus Sebaceus Syndrome Nevus Sebaceus Syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome confirmed Nevus Sebaceus Syndrome DOID:0111530 DOID MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus of Jadassohn Nevus sebaceus of Jadassohn nevus sebaceus of Jadassohn DOID:0111530 linear nevus sebaceous syndrome confirmed Nevus sebaceus of Jadassohn DOID:0111530 DOID MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym Nevus sebaceus syndrome Nevus sebaceus syndrome nevus sebaceus syndrome DOID:0111530 linear nevus sebaceous syndrome confirmed Nevus sebaceus syndrome DOID:0111530 DOID @@ -16881,7 +16792,6 @@ MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym Cronkhite-Canada sy MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis DOID:6225 Cronkhite-Canada syndrome confirmed gastric Cronkhite Canada polyposis DOID:6225 DOID MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym polysyndactyly with peculiars skull shape DOID:14761 Greig cephalopolysyndactyly syndrome confirmed polysyndactyly with peculiars skull shape DOID:14761 DOID MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalopolysyndactyly syndrome DOID:14761 Greig cephalopolysyndactyly syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Greig cephalopolysyndactyly syndrome DOID:14761 DOID -MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome DOID:6683 X-linked Aarskog syndrome confirmed Greig's syndrome DOID:6683 DOID MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 brain small vessel disease 1 confirmed COL4A1-related brain small vessel disease with hemorrhage DOID:0090125 DOID MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related familial vascular leukoencephalopathy DOID:0090125 brain small vessel disease 1 confirmed COL4A1-related familial vascular leukoencephalopathy DOID:0090125 DOID MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies oio:hasExactSynonym COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 brain small vessel disease 1 confirmed COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome DOID:0090125 DOID @@ -16971,7 +16881,6 @@ MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Axenfeld-Rieg MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym RIEG1 DOID:0110120 Axenfeld-Rieger syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RIEG1 DOID:0110120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym Ring dermoid syndrome Ring dermoid syndrome ring dermoid syndrome DOID:0111548 ring dermoid of cornea confirmed Ring dermoid syndrome DOID:0111548 DOID MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym ring dermoid of cornea DOID:0111548 ring dermoid of cornea confirmed ring dermoid of cornea DOID:0111548 DOID -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym SRS DOID:0060802 syndromic X-linked intellectual disability Snyder type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SRS DOID:0060802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver Russell dwarfism Silver Russell dwarfism Silver Russell Dwarfism DOID:14681 Silver-Russell syndrome confirmed Silver Russell dwarfism DOID:14681 DOID MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome DOID:14681 Silver-Russell syndrome confirmed Silver-Russell syndrome DOID:14681 DOID MONDO:0008397 aplasia of lacrimal and salivary glands oio:hasExactSynonym aplasia of lacrimal and salivary glands DOID:0111549 aplasia of lacrimal and salivary glands confirmed aplasia of lacrimal and salivary glands DOID:0111549 DOID @@ -17205,8 +17114,8 @@ MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dy MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dystrophy DOID:0111604 Freeman-Sheldon syndrome confirmed craniocarpotarsal dystrophy DOID:0111604 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face syndrome DOID:0111604 Freeman-Sheldon syndrome confirmed whistling face syndrome DOID:0111604 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face-windmill vane hand syndrome DOID:0111604 Freeman-Sheldon syndrome confirmed whistling face-windmill vane hand syndrome DOID:0111604 DOID -MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A distal arthrogryposis type 2A distal arthrogryposis type 2a DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID +MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym white sponge nevus 1 DOID:0081287 white sponge nevus 1 confirmed white sponge nevus 1 DOID:0081287 DOID MONDO:0008678 Williams syndrome oio:hasExactSynonym Fanconi Schlesinger syndrome DOID:1928 Williams-Beuren syndrome confirmed Fanconi Schlesinger syndrome DOID:1928 DOID MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome DOID:1928 Williams-Beuren syndrome confirmed Williams-Beuren syndrome DOID:1928 DOID @@ -17214,7 +17123,6 @@ MONDO:0008681 WAGR syndrome oio:hasExactSynonym 11p partial monosomy syndrome MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome DOID:14515 WAGR syndrome confirmed WAGR syndrome DOID:14515 DOID MONDO:0008681 WAGR syndrome oio:hasExactSynonym chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome confirmed chromosome 11p13 deletion syndrome DOID:14515 DOID MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome DOID:14515 WAGR syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome DOID:14515 DOID -MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type 4 DOID:0080383 nephrotic syndrome type 4 confirmed nephrotic syndrome type 4 DOID:0080383 DOID MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome DOID:3764 Denys-Drash syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Denys-Drash syndrome DOID:3764 DOID MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome confirmed 4p deletion syndrome DOID:0050460 DOID MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Pitt syndrome Pitt syndrome PITT SYNDROME DOID:0050460 Wolf-Hirschhorn syndrome confirmed Pitt syndrome DOID:0050460 DOID @@ -17466,7 +17374,6 @@ MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym presenile gangrene presenile gangrene Presenile gangrene DOID:12918 thromboangiitis obliterans confirmed presenile gangrene DOID:12918 DOID MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans DOID:12918 thromboangiitis obliterans confirmed thromboangiitis obliterans DOID:12918 DOID MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym Brown-Vialetto-van Laere syndrome Brown-Vialetto-van Laere syndrome Brown-Vialetto-Van Laere syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome confirmed Brown-Vialetto-van Laere syndrome DOID:0050694 DOID -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym Byler disease DOID:0070221 progressive familial intrahepatic cholestasis confirmed Byler disease DOID:0070221 DOID MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym FIC1 deficiency DOID:0070226 progressive familial intrahepatic cholestasis 1 confirmed FIC1 deficiency DOID:0070226 DOID MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym PFIC1 DOID:0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PFIC1 DOID:0070226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008893 C syndrome oio:hasExactSynonym C syndrome DOID:0111581 C syndrome confirmed C syndrome DOID:0111581 DOID @@ -17479,7 +17386,6 @@ MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym CALJA DOID:0111582 hereditary arterial and articular multiple calcification syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CALJA DOID:0111582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer DOID:1324 lung cancer confirmed lung cancer DOID:1324 DOID MONDO:0008903 lung cancer oio:hasRelatedSynonym lung neoplasm DOID:1324 lung cancer confirmed lung neoplasm DOID:1324 DOID -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung DOID:3905 lung carcinoma confirmed cancer of lung DOID:3905 DOID MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym PMM2-congenital disorder of glycosylation DOID:0080552 congenital disorder of glycosylation Ia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed PMM2-congenital disorder of glycosylation DOID:0080552 DOID MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IIa DOID:0070253 congenital disorder of glycosylation type IIa confirmed congenital disorder of glycosylation type IIa DOID:0070253 DOID MONDO:0008908 MGAT2-congenital disorder of glycosylation oio:hasExactSynonym CDG2A DOID:0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG2A DOID:0070253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -17561,7 +17467,6 @@ MONDO:0008978 chordoma oio:hasExactSynonym chordoma DOID:3302 chordoma con MONDO:0008978 chordoma oio:hasExactSynonym notochordoma DOID:3302 chordoma confirmed notochordoma DOID:3302 DOID MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome oio:hasExactSynonym Boucher-Neuhauser syndrome DOID:0111265 Boucher-Neuhauser syndrome confirmed Boucher-Neuhauser syndrome DOID:0111265 DOID MONDO:0008988 citrullinemia type I oio:hasExactSynonym classic citrullinemia DOID:0070340 classic citrullinemia confirmed classic citrullinemia DOID:0070340 DOID -MONDO:0008988 citrullinemia type I oio:hasExactSynonym ASS deficiency DOID:9273 citrullinemia confirmed ASS deficiency DOID:9273 DOID MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym Yunis-Varon syndrome DOID:0060589 Yunis-Varon syndrome confirmed Yunis-Varon syndrome DOID:0060589 DOID MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome confirmed cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 DOID MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 Yunis-Varon syndrome confirmed cleidocranial dysplasia-micrognathia-absent thumbs syndrome DOID:0060589 DOID @@ -17584,7 +17489,6 @@ MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy DOID:1116 MONDO:0009016 band keratopathy oio:hasExactSynonym band-shaped keratopathy band-shaped keratopathy Band-shaped keratopathy DOID:11164 band keratopathy confirmed band-shaped keratopathy DOID:11164 DOID MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym congenital hereditary endothelial dystrophy of cornea DOID:0060649 congenital hereditary endothelial dystrophy of cornea confirmed congenital hereditary endothelial dystrophy of cornea DOID:0060649 DOID MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED DOID:0060649 congenital hereditary endothelial dystrophy of cornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHED DOID:0060649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy DOID:2565 macular corneal dystrophy confirmed Fehr corneal dystrophy DOID:2565 DOID MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular dystrophy, corneal, 1 macular dystrophy, corneal, 1 MACULAR DYSTROPHY, CORNEAL, 1 DOID:2565 macular corneal dystrophy confirmed macular dystrophy, corneal, 1 DOID:2565 DOID MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy DOID:2565 macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed macular corneal dystrophy DOID:2565 DOID @@ -17735,7 +17639,6 @@ MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome confirmed cleft lip/palate-syndactyly-pili torti syndrome DOID:0060773 DOID MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym margarita type of ectodermal dysplasia margarita type of ectodermal dysplasia Margarita type of ectodermal dysplasia DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome confirmed margarita type of ectodermal dysplasia DOID:0060773 DOID MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome confirmed syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 DOID -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym Zlotogora-Ogur syndrome DOID:0080400 orofacial cleft 7 confirmed Zlotogora-Ogur syndrome DOID:0080400 DOID MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym ECTOL2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ECTOL2 DOID:0111149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym ectopia lentis et pupillae DOID:0111648 ectopia lentis with ectopia of pupil confirmed ectopia lentis et pupillae DOID:0111648 DOID MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym CHNG5 DOID:0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHNG5 DOID:0070125 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -17875,7 +17778,6 @@ MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gaucher's disease type MONDO:0009265 Gaucher disease type I oio:hasExactSynonym Gba deficiency Gba deficiency Gba Deficiency DOID:0110957 Gaucher's disease type I confirmed Gba deficiency DOID:0110957 DOID MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I confirmed acid Beta-glucosidase deficiency DOID:0110957 DOID MONDO:0009265 Gaucher disease type I oio:hasExactSynonym GD I DOID:0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GD I DOID:0110957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency acid beta-glucosidase deficiency DOID:1926 Gaucher's disease confirmed acid Beta-glucosidase deficiency DOID:1926 DOID MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher disease, acute neuronopathic type Gaucher disease, acute neuronopathic type Gaucher Disease, Acute Neuronopathic Type DOID:0110958 Gaucher's disease type II confirmed Gaucher disease, acute neuronopathic type DOID:0110958 DOID MONDO:0009266 Gaucher disease type II oio:hasExactSynonym Gaucher's disease type II DOID:0110958 Gaucher's disease type II confirmed Gaucher's disease type II DOID:0110958 DOID MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile Cerebral Gaucher Disease DOID:0110958 Gaucher's disease type II confirmed infantile cerebral Gaucher disease DOID:0110958 DOID @@ -18257,10 +18159,6 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym bilateral band-like calcification with polymicrogyria DOID:0050656 pseudo-TORCH syndrome 1 confirmed bilateral band-like calcification with polymicrogyria DOID:0050656 DOID MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 pseudo-TORCH syndrome 1 confirmed microcephaly-intracranial calcification-intellectual disability syndrome DOID:0050656 DOID MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym BLC-PMG DOID:0050656 pseudo-TORCH syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BLC-PMG DOID:0050656 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 confirmed Galloway syndrome DOID:0060364 DOID -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 Galloway-Mowat syndrome 1 confirmed microcephaly, hiatal hernia and nephrotic syndrome DOID:0060364 DOID -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 confirmed nephrosis-microcephaly syndrome DOID:0060364 DOID -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 confirmed nephrosis-neuronal dysmigration syndrome DOID:0060364 DOID MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome DOID:0080694 Galloway-Mowat syndrome confirmed Galloway-Mowat syndrome DOID:0080694 DOID MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 DOID:0060840 isolated microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCOP1 DOID:0060840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym Davidson disease DOID:0060775 microvillus inclusion disease confirmed Davidson disease DOID:0060775 DOID @@ -18288,8 +18186,8 @@ MONDO:0009650 mucolipidosis type II oio:hasExactSynonym mucolipidosis II DOID MONDO:0009653 mucolipidosis type IV oio:hasExactSynonym mucolipidosis type IV DOID:0080490 mucolipidosis type IV confirmed mucolipidosis type IV DOID:0080490 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym Sanfilippo syndrome type A DOID:0111395 mucopolysaccharidosis type IIIA confirmed Sanfilippo syndrome type A DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym heparan sulfamidase deficiency DOID:0111395 mucopolysaccharidosis type IIIA confirmed heparan sulfamidase deficiency DOID:0111395 DOID -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID +MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type 3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mucopolysaccharidosis type 3A DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym MPS3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS3A DOID:0111395 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -18321,7 +18219,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym GALNS deficienc MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA confirmed Morquio syndrome A DOID:0111391 DOID MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis IVA DOID:0111391 mucopolysaccharidosis IVA confirmed mucopolysaccharidosis IVA DOID:0111391 DOID MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym MPS4A DOID:0111391 mucopolysaccharidosis IVA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS4A DOID:0111391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV confirmed galactosamine-6-sulfatase deficiency DOID:12804 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency Beta-D-galactosidase deficiency beta-D-galactosidase deficiency DOID:0111392 mucopolysaccharidosis type IVB confirmed Beta-D-galactosidase deficiency DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio disease type B DOID:0111392 mucopolysaccharidosis type IVB confirmed Morquio disease type B DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio syndrome B DOID:0111392 mucopolysaccharidosis type IVB confirmed Morquio syndrome B DOID:0111392 DOID @@ -18663,7 +18560,6 @@ MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym desquamat MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym familial desquamative interstitial pneumonitis DOID:0050158 desquamative interstitial pneumonia confirmed familial desquamative interstitial pneumonitis DOID:0050158 DOID MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 desquamative interstitial pneumonia confirmed respiratory bronchiolitis-associated interstitial lung disease DOID:0050158 DOID MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym RBILD DOID:0050158 desquamative interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RBILD DOID:0050158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 confirmed polycystic kidney disease, autosomal recessive DOID:0080212 DOID MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym AR-PKD DOID:0110861 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AR-PKD DOID:0110861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym Osler-Vaquez syndrome DOID:8997 polycythemia vera confirmed Osler-Vaquez syndrome DOID:8997 DOID MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym polycythaemia rubra vera polycythaemia rubra vera Polycythaemia rubra vera DOID:8997 polycythemia vera confirmed polycythaemia rubra vera DOID:8997 DOID @@ -18710,7 +18606,6 @@ MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis DOID:008003 MONDO:0009943 Pyle disease oio:hasExactSynonym Bakwin-Krida syndrome DOID:0080019 metaphyseal dysplasia confirmed Bakwin-Krida syndrome DOID:0080019 DOID MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle's disease DOID:0080019 metaphyseal dysplasia confirmed Pyle's disease DOID:0080019 DOID MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle-Cohn syndrome DOID:0080019 metaphyseal dysplasia confirmed Pyle-Cohn syndrome DOID:0080019 DOID -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym antiquitin deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 confirmed antiquitin deficiency DOID:0070519 DOID MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pyridoxine-dependent epilepsy DOID:0080768 DOID MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym deficiency of pyruvic carboxylase DOID:3651 pyruvate carboxylase deficiency disease confirmed deficiency of pyruvic carboxylase DOID:3651 DOID MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease DOID:3651 pyruvate carboxylase deficiency disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pyruvate carboxylase deficiency disease DOID:3651 DOID @@ -18718,7 +18613,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 pyruvate kinase deficiency of red cells confirmed hemolytic anemia due to red cell pyruvate kinase deficiency DOID:0111077 DOID MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte DOID:0111077 pyruvate kinase deficiency of red cells confirmed pyruvate kinase deficiency of erythrocyte DOID:0111077 DOID MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells DOID:0111077 pyruvate kinase deficiency of red cells confirmed pyruvate kinase deficiency of red cells DOID:0111077 DOID -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome DOID:0070255 congenital disorder of glycosylation type IIc confirmed Rambam-Hasharon syndrome DOID:0070255 DOID MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG IIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDGIIc DOID:0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDGIIc DOID:0070255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -18751,7 +18645,6 @@ MONDO:0009973 reticular dysgenesis oio:hasRelatedSynonym aleukocytosis DOID:0 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym FHL1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHL1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym HPLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HPLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma interdigitating cell sarcoma Interdigitating cell sarcoma DOID:7848 interdigitating dendritic cell sarcoma confirmed interdigitating cell sarcoma DOID:7848 DOID MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym histiocytic lymphoma DOID:8538 reticulosarcoma confirmed histiocytic lymphoma DOID:8538 DOID MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym large-cell Lymphomas DOID:8538 reticulosarcoma confirmed large-cell Lymphomas DOID:8538 DOID MONDO:0009975 reticulum cell sarcoma oio:hasExactSynonym reticulosarcoma DOID:8538 reticulosarcoma confirmed reticulosarcoma DOID:8538 DOID @@ -18781,7 +18674,6 @@ MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS DOID:0070509 MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome DOID:0050168 autoimmune polyendocrine syndrome type 2 confirmed Schmidt syndrome DOID:0050168 DOID MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym autoimmune polyendocrine syndrome type 2 DOID:0050168 autoimmune polyendocrine syndrome type 2 confirmed autoimmune polyendocrine syndrome type 2 DOID:0050168 DOID MONDO:0010013 schneckenbecken dysplasia oio:hasExactSynonym schneckenbecken dysplasia DOID:0050775 schneckenbecken dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed schneckenbecken dysplasia DOID:0050775 DOID -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis confirmed sclerocornea with other ocular anomalies DOID:0060648 DOID MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym anterior segment dysgenesis 7 DOID:0080612 anterior segment dysgenesis 7 confirmed anterior segment dysgenesis 7 DOID:0080612 DOID MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym sclerosteosis 1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed sclerosteosis 1 DOID:0060756 DOID MONDO:0010016 sclerosteosis 1 oio:hasExactSynonym SOST1 DOID:0060756 sclerosteosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SOST1 DOID:0060756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -18885,7 +18777,6 @@ MONDO:0010088 mucosulfatidosis oio:hasExactSynonym mucosulfatidosis DOID:0050 MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym Sulfocysteinuria Sulfocysteinuria sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency confirmed Sulfocysteinuria DOID:0111270 DOID MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym sulfocysteinuria DOID:0111270 isolated sulfite oxidase deficiency confirmed sulfocysteinuria DOID:0111270 DOID MONDO:0010089 isolated sulfite oxidase deficiency oio:hasExactSynonym isolated sulfite oxidase deficiency DOID:0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed isolated sulfite oxidase deficiency DOID:0111270 DOID -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym Crisponi syndrome DOID:0060294 cold-induced sweating syndrome confirmed Crisponi syndrome DOID:0060294 DOID MONDO:0010092 Filippi syndrome oio:hasExactSynonym Filippi syndrome DOID:0112194 Filippi syndrome confirmed Filippi syndrome DOID:0112194 DOID MONDO:0010092 Filippi syndrome oio:hasExactSynonym type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 Filippi syndrome confirmed type 1 syndactyly-microcephaly-intellectual disability syndrome DOID:0112194 DOID MONDO:0010094 spondylocarpotarsal synostosis syndrome oio:hasExactSynonym congenital scoliosis with unilateral unsegmented bar DOID:0090116 spondylocarpotarsal synostosis syndrome confirmed congenital scoliosis with unilateral unsegmented bar DOID:0090116 DOID @@ -18979,7 +18870,6 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSy MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed methylmalonic aciduria and homocystinuria type cblC DOID:0050715 DOID MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym cobalamin D deficiency cobalamin D deficiency Cobalamin D deficiency DOID:0050716 methylmalonic aciduria and homocystinuria type cblD confirmed cobalamin D deficiency DOID:0050716 DOID MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym methylmalonic aciduria and homocystinuria type cblD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed methylmalonic aciduria and homocystinuria type cblD DOID:0050716 DOID -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors confirmed hereditary combined deficiency of factors II, VII, IX and X DOID:0112172 DOID MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym ataxia with isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E confirmed ataxia with isolated vitamin E deficiency DOID:0090028 DOID MONDO:0010188 familial isolated deficiency of vitamin E oio:hasExactSynonym familial isolated vitamin E deficiency DOID:0090028 familial isolated deficiency of vitamin E confirmed familial isolated vitamin E deficiency DOID:0090028 DOID MONDO:0010191 von Willebrand disease 3 oio:hasExactSynonym VWD type 3 DOID:0111054 von Willebrand's disease 3 confirmed VWD type 3 DOID:0111054 DOID @@ -19191,8 +19081,8 @@ MONDO:0010300 intellectual disability, X-linked 53 oio:hasExactSynonym MRX53 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym Hypomelanosis of Ito Hypomelanosis of Ito hypomelanosis of Ito DOID:3156 hypomelanosis of Ito confirmed Hypomelanosis of Ito DOID:3156 DOID MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym hypomelanosis of Ito DOID:3156 hypomelanosis of Ito confirmed hypomelanosis of Ito DOID:3156 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym SLC6A8 deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed SLC6A8 deficiency DOID:0050800 DOID -MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID +MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym creatine transporter deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed creatine transporter deficiency DOID:0050800 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym syndromic X-linked intellectual disability Cabezas type DOID:0060822 syndromic X-linked intellectual disability Cabezas type confirmed syndromic X-linked intellectual disability Cabezas type DOID:0060822 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 DOID @@ -19207,7 +19097,6 @@ MONDO:0010309 intellectual disability, X-linked 42 oio:hasExactSynonym MRX42 MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome DOID:0060886 osteopathia striata with cranial sclerosis confirmed Robinow-Unger syndrome DOID:0060886 DOID MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations DOID:0060886 osteopathia striata with cranial sclerosis confirmed hyperostosis generalisata with striations DOID:0060886 DOID MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym osteopathia striata with cranial sclerosis DOID:0060886 osteopathia striata with cranial sclerosis confirmed osteopathia striata with cranial sclerosis DOID:0060886 DOID -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD DOID:0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD DOID:0070527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy DOID:9883 Becker muscular dystrophy confirmed Becker muscular dystrophy DOID:9883 DOID MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy DOID:9883 Becker muscular dystrophy confirmed benign congenital myopathy DOID:9883 DOID MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign pseudohypertrophic muscular dystrophy benign pseudohypertrophic muscular dystrophy Benign pseudohypertrophic muscular dystrophy DOID:9883 Becker muscular dystrophy confirmed benign pseudohypertrophic muscular dystrophy DOID:9883 DOID @@ -19423,7 +19312,6 @@ MONDO:0010478 SLC35A2-congenital disorder of glycosylation oio:hasExactSynonym MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 confirmed Charcot-Marie-Tooth neuropathy X-linked dominant 6 DOID:0110207 DOID MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 confirmed X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 DOID MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym CMTX6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMTX6 DOID:0110207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010481 angioedema oio:hasExactSynonym Quincke edema DOID:0060002 C1 inhibitor deficiency confirmed Quincke edema DOID:0060002 DOID MONDO:0010481 angioedema oio:hasExactSynonym Quincke's edema DOID:1558 angioedema confirmed Quincke's edema DOID:1558 DOID MONDO:0010481 angioedema oio:hasExactSynonym giant urticaria DOID:1558 angioedema confirmed giant urticaria DOID:1558 DOID MONDO:0010482 X-linked parkinsonism-spasticity syndrome oio:hasExactSynonym XPDS DOID:0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XPDS DOID:0112105 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -19473,13 +19361,10 @@ MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis imperfecta type IE DOID:0110058 amelogenesis imperfecta type 1E confirmed amelogenesis imperfecta type IE DOID:0110058 DOID MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym AIH1 DOID:0110058 amelogenesis imperfecta type 1E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIH1 DOID:0110058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E confirmed X-linked enamel hypoplasia DOID:0110058 DOID -MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 confirmed X-linked enamel hypoplasia DOID:0110059 DOID -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E confirmed X-linked enamel hypoplasia DOID:0110058 DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta 3 hypoplastic type DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed amelogenesis imperfecta 3 hypoplastic type DOID:0110059 DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym AIH3 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIH3 DOID:0110059 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 confirmed X-linked enamel hypoplasia DOID:0110059 DOID MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym Partington disease DOID:0111834 X-linked reticulate pigmentary disorder confirmed Partington disease DOID:0111834 DOID -MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym PDR DOID:13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDR DOID:13207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia and ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia confirmed X-linked sideroblastic anemia and ataxia DOID:0050554 DOID MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym X-linked sideroblastic anemia with ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia confirmed X-linked sideroblastic anemia with ataxia DOID:0050554 DOID MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym anemia sideroblastic and spinocerebellar ataxia anemia sideroblastic and spinocerebellar ataxia Anemia sideroblastic and spinocerebellar ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia confirmed anemia sideroblastic and spinocerebellar ataxia DOID:0050554 DOID @@ -19628,7 +19513,6 @@ MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogen storag MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym glycogenosis type VIII DOID:2751 glycogen storage disease VIII confirmed glycogenosis type VIII DOID:2751 DOID MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym hepatic glycogen phosphorylase kinase deficiency DOID:2751 glycogen storage disease VIII confirmed hepatic glycogen phosphorylase kinase deficiency DOID:2751 DOID MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CDGX DOID:0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDGX DOID:0070195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010600 granulomatous disease, chronic, X-linked oio:hasExactSynonym CGD DOID:3265 chronic granulomatous disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CGD DOID:3265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010602 hemophilia A oio:hasExactSynonym Subhemophilia DOID:12134 factor VIII deficiency confirmed Subhemophilia DOID:12134 DOID MONDO:0010602 hemophilia A oio:hasExactSynonym congenital factor VIII disorder congenital factor VIII disorder Congenital factor VIII disorder DOID:12134 factor VIII deficiency confirmed congenital factor VIII disorder DOID:12134 DOID MONDO:0010602 hemophilia A oio:hasExactSynonym factor VIII deficiency DOID:12134 factor VIII deficiency confirmed factor VIII deficiency DOID:12134 DOID @@ -19665,7 +19549,6 @@ MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked placen MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked recessive ichthyosis DOID:1700 X-linked ichthyosis confirmed X-linked recessive ichthyosis DOID:1700 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym X-linked hyper-IgM syndrome DOID:0060022 CD40 ligand deficiency confirmed X-linked hyper-IgM syndrome DOID:0060022 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGMX-1 DOID:0060022 CD40 ligand deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIGMX-1 DOID:0060022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome confirmed hyperimmunoglobulin M syndrome DOID:0080544 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyper-IgM syndrome type 1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hyper-IgM syndrome type 1 DOID:6620 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym HIGM1 DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIGM1 DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym Bloch-Sulzberger syndrome DOID:12305 Bloch-Sulzberger syndrome confirmed Bloch-Sulzberger syndrome DOID:12305 DOID @@ -19717,10 +19600,6 @@ MONDO:0010667 Prieto syndrome oio:hasExactSynonym X-linked intellectual disabil MONDO:0010669 syndactyly type 8 oio:hasExactSynonym fusion of metacarpals 4 and 5 DOID:0111813 syndactyly type 8 confirmed fusion of metacarpals 4 and 5 DOID:0111813 DOID MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym Lenz dysplasia DOID:0111799 syndromic microphthalmia 1 confirmed Lenz dysplasia DOID:0111799 DOID MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 DOID:0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCOPS1 DOID:0111799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 confirmed MIDAS syndrome DOID:0111808 DOID -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 confirmed microphthalmia-dermal aplasia-sclerocornea syndrome DOID:0111808 DOID -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym syndromic microphthalmia type 7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 confirmed syndromic microphthalmia type 7 DOID:0111808 DOID -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MCOPS7 DOID:0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCOPS7 DOID:0111808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MLS syndrome DOID:0111875 MLS syndrome confirmed MLS syndrome DOID:0111875 DOID MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies DOID:0111875 MLS syndrome confirmed linear skin defects with multiple congenital anomalies DOID:0111875 DOID MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome DOID:12799 mucopolysaccharidosis II confirmed Hunter syndrome DOID:12799 DOID @@ -19805,7 +19684,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS DOID:0060763 X- MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett's disorder DOID:1206 Rett syndrome confirmed Rett's disorder DOID:1206 DOID MONDO:0010726 Rett syndrome oio:hasExactSynonym cerebroatrophic hyperammonemia DOID:1206 Rett syndrome confirmed cerebroatrophic hyperammonemia DOID:1206 DOID MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome DOID:1206 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rett syndrome DOID:1206 DOID -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS DOID:2732 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RTS DOID:2732 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym X-linked spastic paraplegia 2 DOID:0110773 hereditary spastic paraplegia 2 confirmed X-linked spastic paraplegia 2 DOID:0110773 DOID MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym spastic paraplegia type 2 DOID:0110773 hereditary spastic paraplegia 2 confirmed spastic paraplegia type 2 DOID:0110773 DOID MONDO:0010733 hereditary spastic paraplegia 2 oio:hasExactSynonym SPG2 DOID:0110773 hereditary spastic paraplegia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG2 DOID:0110773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -19858,7 +19736,6 @@ MONDO:0010800 Wolfram syndrome, mitochondrial form oio:hasExactSynonym Wolfram MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym Yorifuji-Okuno syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome confirmed Yorifuji-Okuno syndrome DOID:0111733 DOID MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 DOID MONDO:0010803 Eiken syndrome oio:hasExactSynonym Eiken syndrome DOID:0111732 Eiken syndrome confirmed Eiken syndrome DOID:0111732 DOID -MONDO:0010805 bladder exstrophy oio:hasExactSynonym Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex bladder exstrophy-epispadias-cloacal exstrophy complex DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex confirmed Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex DOID:0080173 DOID MONDO:0010805 bladder exstrophy oio:hasExactSynonym bladder exstrophy DOID:0080174 bladder exstrophy confirmed bladder exstrophy DOID:0080174 DOID MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym retinitis pigmentosa 13 DOID:0110403 retinitis pigmentosa 13 confirmed retinitis pigmentosa 13 DOID:0110403 DOID MONDO:0010806 retinitis pigmentosa 13 oio:hasExactSynonym RP13 DOID:0110403 retinitis pigmentosa 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RP13 DOID:0110403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -19958,8 +19835,6 @@ MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym f MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym pituitary adenoma, prolactin-secreting pituitary adenoma, prolactin-secreting PITUITARY ADENOMA, PROLACTIN-SECRETING DOID:5394 prolactinoma confirmed pituitary adenoma, prolactin-secreting DOID:5394 DOID MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma DOID:5394 prolactinoma confirmed prolactinoma DOID:5394 DOID MONDO:0010911 prolactin-producing pituitary gland adenoma oio:hasExactSynonym prolactinoma of pituitary gland prolactinoma of pituitary gland Prolactinoma of Pituitary gland DOID:5394 prolactinoma confirmed prolactinoma of pituitary gland DOID:5394 DOID -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym Pkd3 Pkd3 pkd3 DOID:0080212 polycystic kidney disease 4 confirmed Pkd3 DOID:0080212 DOID -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PKD3 DOID:0080212 DOID MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease 3 DOID:0110860 polycystic kidney disease 3 confirmed polycystic kidney disease 3 DOID:0110860 DOID MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym polycystic kidney disease, adult, type III polycystic kidney disease, adult, type III Polycystic Kidney Disease, Adult, Type III DOID:0110860 polycystic kidney disease 3 confirmed polycystic kidney disease, adult, type III DOID:0110860 DOID MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease oio:hasExactSynonym APKD3 Apkd3 APKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed APKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -19970,7 +19845,6 @@ MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym famili MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym hypocalciuric hypercalcemia type III DOID:0060702 familial hypocalciuric hypercalcemia 3 confirmed hypocalciuric hypercalcemia type III DOID:0060702 DOID MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym HHC3 DOID:0060702 familial hypocalciuric hypercalcemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHC3 DOID:0060702 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010927 orofacial cleft 3 oio:hasExactSynonym orofacial cleft 3 DOID:0080397 orofacial cleft 3 confirmed orofacial cleft 3 DOID:0080397 DOID -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct confirmed enlarged vestibular aqueduct DOID:0050332 DOID MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 oio:hasExactSynonym FTD3 DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FTD3 DOID:0111227 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010943 schizophrenia 4 oio:hasExactSynonym schizophrenia 4 DOID:0070080 schizophrenia 4 confirmed schizophrenia 4 DOID:0070080 DOID MONDO:0010943 schizophrenia 4 oio:hasExactSynonym SCZD4 DOID:0070080 schizophrenia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCZD4 DOID:0070080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -20004,7 +19878,6 @@ MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSyno MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym obesity with impaired prohormone processing DOID:0111698 proprotein convertase 1/3 deficiency confirmed obesity with impaired prohormone processing DOID:0111698 DOID MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym nonepidermolytic palmoplantar keratoderma DOID:0050428 nonepidermolytic palmoplantar keratoderma confirmed nonepidermolytic palmoplantar keratoderma DOID:0050428 DOID MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym NEPPK DOID:0050428 nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEPPK DOID:0050428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 Bothnian type palmoplantar keratoderma confirmed diffuse palmoplantar keratoderma, Bothnian type DOID:0111707 DOID MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis Fraccaro type DOID:0080055 achondrogenesis type IB confirmed achondrogenesis Fraccaro type DOID:0080055 DOID MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis type IB DOID:0080055 achondrogenesis type IB http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed achondrogenesis type IB DOID:0080055 DOID MONDO:0010969 cone-rod dystrophy 5 oio:hasExactSynonym cone-rod dystrophy 5 DOID:0111010 cone-rod dystrophy 5 confirmed cone-rod dystrophy 5 DOID:0111010 DOID @@ -20315,8 +20188,8 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym congenital m MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS Ic DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS Ic DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym CMS5 DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS5 DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym EAD DOID:0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EAD DOID:0110667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mitochondrial DNA depletion syndrome 1 DOID:0080119 DOID MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mitochondrial DNA depletion syndrome 1 DOID:0080119 DOID +MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome 1 mitochondrial dna depletion syndrome 1 DOID:0080119 mitochondrial DNA depletion syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mitochondrial DNA depletion syndrome 1 DOID:0080119 DOID MONDO:0011284 astigmatism oio:hasExactSynonym astigmatism DOID:11782 astigmatism confirmed astigmatism DOID:11782 DOID MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym age related maculopathy 1 DOID:0110014 age related macular degeneration 1 confirmed age related maculopathy 1 DOID:0110014 DOID MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym ARMD1 DOID:0110014 age related macular degeneration 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARMD1 DOID:0110014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -20692,7 +20565,6 @@ MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS1A1 DO MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A DOID:0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS4A DOID:0110678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy DOID:0080718 GNE myopathy confirmed Nonaka myopathy DOID:0080718 DOID MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy, Nonaka type distal myopathy, Nonaka type Distal myopathy, Nonaka type DOID:0080718 GNE myopathy confirmed distal myopathy, Nonaka type DOID:0080718 DOID -MONDO:0011603 GNE myopathy oio:hasExactSynonym distal myopathy with rimmed vacuoles DOID:0081363 distal myopathy with rimmed vacuoles confirmed distal myopathy with rimmed vacuoles DOID:0081363 DOID MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym atopic dermatitis 5 DOID:0110101 atopic dermatitis 5 confirmed atopic dermatitis 5 DOID:0110101 DOID MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym ATOD5 DOID:0110101 atopic dermatitis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATOD5 DOID:0110101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym atopic dermatitis 6 DOID:0110102 atopic dermatitis 6 confirmed atopic dermatitis 6 DOID:0110102 DOID @@ -20788,7 +20660,6 @@ MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 oio:hasExactSynonym MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 DOID:0060195 amyotrophic lateral sclerosis type 3 confirmed amyotrophic lateral sclerosis 3 DOID:0060195 DOID MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15 DOID:0050965 spinocerebellar ataxia type 15 confirmed spinocerebellar ataxia type 15 DOID:0050965 DOID MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 16 DOID:0050965 spinocerebellar ataxia type 15 confirmed spinocerebellar ataxia type 16 DOID:0050965 DOID -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 DOID:0080029 autosomal recessive spinocerebellar ataxia 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR16 DOID:0080029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym Waardenburg syndrome type IIC DOID:0110951 Waardenburg syndrome type 2C confirmed Waardenburg syndrome type IIC DOID:0110951 DOID MONDO:0011697 Waardenburg syndrome type 2C oio:hasExactSynonym WS2C DOID:0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WS2C DOID:0110951 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym GNMT deficiency DOID:0111037 glycine N-methyltransferase deficiency confirmed GNMT deficiency DOID:0111037 DOID @@ -20827,7 +20698,6 @@ MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym gastrointestin MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GANT gant GANT DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GANT DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011719 gastrointestinal stromal tumor oio:hasExactSynonym GIST gist GIST DOID:9253 gastrointestinal stromal tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GIST DOID:9253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym spermatogenic failure 3 DOID:0070168 spermatogenic failure 3 confirmed spermatogenic failure 3 DOID:0070168 DOID -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym Glucose Transporter Type 1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Syndrome glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome confirmed Glucose Transporter Type 1 Deficiency Syndrome DOID:0070560 DOID MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym De Vivo disease DOID:0070561 glucose transporter type 1 deficiency syndrome 1 confirmed De Vivo disease DOID:0070561 DOID MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym encephalopathy due to GLUT1 deficiency DOID:0070561 glucose transporter type 1 deficiency syndrome 1 confirmed encephalopathy due to GLUT1 deficiency DOID:0070561 DOID MONDO:0011728 benign essential blepharospasm oio:hasExactSynonym blepharospasm DOID:529 blepharospasm confirmed blepharospasm DOID:529 DOID @@ -20854,11 +20724,9 @@ MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym nephronophthisis 4 DOID: MONDO:0011752 nephronophthisis 4 oio:hasExactSynonym NPHP4 DOID:0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NPHP4 DOID:0111115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 oio:hasExactSynonym EIG2 DOID:0111317 idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EIG2 DOID:0111317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011757 brachydactyly type A1B oio:hasExactSynonym BDA1B DOID:0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BDA1B DOID:0110974 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011758 Hurler syndrome oio:hasExactSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Hurler syndrome DOID:12802 DOID MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1H/S mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1H/S DOID:0111389 mucopolysaccharidosis Ih/s confirmed mucopolysaccharidosis type 1H/S DOID:0111389 DOID MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPS1H/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS1H/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym MPSIH/S DOID:0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPSIH/S DOID:0111389 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym Hurler-Scheie syndrome DOID:12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Hurler-Scheie syndrome DOID:12802 DOID MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type 1S DOID:0060222 Scheie syndrome confirmed mucopolysaccharidosis type 1S DOID:0060222 DOID MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type IS DOID:0060222 Scheie syndrome confirmed mucopolysaccharidosis type IS DOID:0060222 DOID MONDO:0011760 Scheie syndrome oio:hasExactSynonym mucopolysaccharidosis type V DOID:0060222 Scheie syndrome confirmed mucopolysaccharidosis type V DOID:0060222 DOID @@ -20873,7 +20741,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym dSMA3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed dSMA3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type IId DOID:0070256 congenital disorder of glycosylation type IId confirmed congenital disorder of glycosylation type IId DOID:0070256 DOID MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG2D DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 confirmed spondylometaepiphyseal dysplasia, Menger type DOID:0050640 DOID MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia confirmed anauxetic dysplasia DOID:0080942 DOID MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome CINCA Syndrome DOID:0090029 CINCA Syndrome confirmed CINCA syndrome DOID:0090029 DOID MONDO:0011776 CINCA syndrome oio:hasExactSynonym IOMID syndrome DOID:0090029 CINCA Syndrome confirmed IOMID syndrome DOID:0090029 DOID @@ -21044,7 +20911,6 @@ MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym monilethrix-like hypotrichosi MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym hypotrichosis 6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hypotrichosis 6 DOID:0110703 DOID MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym LAH1 Lah1 LAH1 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LAH1 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011932 hypotrichosis 6 oio:hasExactSynonym HYPT6 DOID:0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HYPT6 DOID:0110703 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011933 ALG2-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ii congenital disorder of glycosylation type Ii congenital disorder of glycosylation type II DOID:0050571 congenital disorder of glycosylation type II confirmed congenital disorder of glycosylation type Ii DOID:0050571 DOID MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibrosarcoma protuberans DOID:3507 dermatofibrosarcoma protuberans confirmed dermatofibrosarcoma protuberans DOID:3507 DOID MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym retinitis pigmentosa 30 DOID:0110406 retinitis pigmentosa 30 confirmed retinitis pigmentosa 30 DOID:0110406 DOID MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym RP30 DOID:0110406 retinitis pigmentosa 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RP30 DOID:0110406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -21249,7 +21115,6 @@ MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasE MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym SMD-CRD SmD-CRD SMD-CRD DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMD-CRD DOID:0112300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 patterned macular dystrophy 2 confirmed butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 DOID MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 DOID:0060864 patterned macular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDPT2 DOID:0060864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive confirmed autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID DOID:0090013 DOID MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive confirmed autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID DOID:0090014 DOID MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive DOID:0090014 DOID MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA DOID:0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADSA DOID:0111170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -21496,9 +21361,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym spinocerebella MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia 31 DOID:0110782 hereditary spastic paraplegia 31 confirmed autosomal dominant spastic paraplegia 31 DOID:0110782 DOID MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 DOID:0110782 hereditary spastic paraplegia 31 confirmed autosomal dominant spastic paraplegia type 31 DOID:0110782 DOID MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 DOID:0110782 hereditary spastic paraplegia 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG31 DOID:0110782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome DOID:0060352 Kleefstra syndrome 1 confirmed 9Q subtelomeric deletion syndrome DOID:0060352 DOID -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 confirmed 9q-syndrome DOID:0060352 DOID -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9q34 deletion syndrome DOID:0060352 Kleefstra syndrome 1 confirmed 9q34 deletion syndrome DOID:0060352 DOID MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Kleefstra syndrome DOID:0080597 DOID MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary aphakia, congenital primary APHAKIA, CONGENITAL PRIMARY DOID:11367 congenital aphakia confirmed aphakia, congenital primary DOID:11367 DOID MONDO:0012456 congenital primary aphakia oio:hasExactSynonym congenital absence of lens congenital absence of lens Congenital absence of lens DOID:11367 congenital aphakia confirmed congenital absence of lens DOID:11367 DOID @@ -22191,7 +22053,6 @@ MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O oio:has MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N confirmed muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 DOID:0110298 DOID MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N confirmed muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 DOID MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym LGMD2N DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LGMD2N DOID:0110298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N oio:hasExactSynonym MDDGC2 DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDDGC2 DOID:0112382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym nephronophthisis-like nephropathy 1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed nephronophthisis-like nephropathy 1 DOID:0111117 DOID MONDO:0013163 nephronophthisis-like nephropathy 1 oio:hasExactSynonym NPHPL1 DOID:0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NPHPL1 DOID:0111117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym autosomal recessive spastic paraplegia 45 DOID:0110797 hereditary spastic paraplegia 45 confirmed autosomal recessive spastic paraplegia 45 DOID:0110797 DOID @@ -23230,8 +23091,6 @@ MONDO:0014145 Leber congenital amaurosis 17 oio:hasExactSynonym LCA17 DOID:01 MONDO:0014146 autosomal dominant hypocalcemia 2 oio:hasExactSynonym HYPOC2 DOID:0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HYPOC2 DOID:0090108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 neuronal ceroid lipofuscinosis 13 confirmed neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 DOID MONDO:0014147 neuronal ceroid lipofuscinosis 13 oio:hasExactSynonym CLN13 DOID:0110727 neuronal ceroid lipofuscinosis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLN13 DOID:0110727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym childhood onset epileptic encephalopathy DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed childhood onset epileptic encephalopathy DOID:0060475 DOID -MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym EEOC DOID:0060475 myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EEOC DOID:0060475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014150 developmental and epileptic encephalopathy 94 oio:hasExactSynonym developmental and epileptic encephalopathy 94 DOID:0081325 developmental and epileptic encephalopathy 94 confirmed developmental and epileptic encephalopathy 94 DOID:0081325 DOID MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym cone-rod dystrophy 18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cone-rod dystrophy 18 DOID:0111024 DOID MONDO:0014153 cone-rod dystrophy 18 oio:hasExactSynonym CORD18 DOID:0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CORD18 DOID:0111024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -23398,7 +23257,6 @@ MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 D MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer disease 19 late onset DOID:0110051 Alzheimer's disease 19 confirmed Alzheimer disease 19 late onset DOID:0110051 DOID MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym Alzheimer's disease 19 DOID:0110051 Alzheimer's disease 19 confirmed Alzheimer's disease 19 DOID:0110051 DOID MONDO:0014316 Alzheimer disease 19 oio:hasExactSynonym AD19 DOID:0110051 Alzheimer's disease 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AD19 DOID:0110051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed hyperphosphatasia with mental retardation syndrome 4 DOID:0070437 DOID MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym optic atrophy-intellectual disability syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome confirmed optic atrophy-intellectual disability syndrome DOID:0112226 DOID MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 DOID MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome oio:hasExactSynonym BBSOAS DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BBSOAS DOID:0112226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -23900,8 +23758,6 @@ MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynon MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 combined oxidative phosphorylation deficiency 28 confirmed neonatal severe cardiopulmonary failure due to mitochondrial methylation defect DOID:0111470 DOID MONDO:0014775 combined oxidative phosphorylation deficiency 28 oio:hasExactSynonym COXPD28 DOID:0111470 combined oxidative phosphorylation deficiency 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD28 DOID:0111470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014776 spinocerebellar ataxia type 42 oio:hasExactSynonym SCA42 DOID:0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA42 DOID:0111742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed hyperphosphatasia with mental retardation syndrome 6 DOID:0070436 DOID -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym HPMRS6 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HPMRS6 DOID:0070436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym combined oxidative phosphorylation deficiency 29 DOID:0111501 combined oxidative phosphorylation deficiency 29 confirmed combined oxidative phosphorylation deficiency 29 DOID:0111501 DOID MONDO:0014781 combined oxidative phosphorylation deficiency 29 oio:hasExactSynonym COXPD29 DOID:0111501 combined oxidative phosphorylation deficiency 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD29 DOID:0111501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2X DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X confirmed muscular dystrophy, limb-girdle, type 2X DOID:0110290 DOID @@ -24107,9 +23963,7 @@ MONDO:0015131 combined immunodeficiency oio:hasExactSynonym combined immunodefi MONDO:0015131 combined immunodeficiency oio:hasExactSynonym congenital combined immunodeficiency congenital combined immunodeficiency Congenital Combined Immunodeficiency DOID:628 combined T cell and B cell immunodeficiency confirmed congenital combined immunodeficiency DOID:628 DOID MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy DOID:0110273 autosomal dominant limb-girdle muscular dystrophy confirmed autosomal dominant limb-girdle muscular dystrophy DOID:0110273 DOID MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy DOID:0110274 autosomal recessive limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed autosomal recessive limb-girdle muscular dystrophy DOID:0110274 DOID -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed arthrogryposis multiplex congenita DOID:0050646 DOID MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed arthrogryposis multiplex congenita DOID:0080954 DOID -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015183 short bowel syndrome oio:hasExactSynonym acquired short bowel syndrome DOID:10605 short bowel syndrome confirmed acquired short bowel syndrome DOID:10605 DOID MONDO:0015183 short bowel syndrome oio:hasExactSynonym short gut syndrome DOID:10605 short bowel syndrome confirmed short gut syndrome DOID:10605 DOID MONDO:0015194 sideroblastic anemia oio:hasExactSynonym anemia sideroblastic anemia sideroblastic ANEMIA SIDEROBLASTIC DOID:8955 sideroblastic anemia confirmed anemia sideroblastic DOID:8955 DOID @@ -24127,8 +23981,6 @@ MONDO:0015243 allergic bronchopulmonary aspergillosis oio:hasExactSynonym pulmo MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Blackfan - Diamond syndrome DOID:1339 Diamond-Blackfan anemia confirmed Blackfan - Diamond syndrome DOID:1339 DOID MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym chronic constitutional pure red cell anaemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed chronic constitutional pure red cell anaemia DOID:1339 DOID MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia DOID:1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Diamond-Blackfan anemia DOID:1339 DOID -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anemia DOID:1342 congenital hypoplastic anemia confirmed congenital hypoplastic anemia DOID:1342 DOID -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed congenital hypoplastic anaemia DOID:1342 DOID MONDO:0015254 schistosomiasis oio:hasExactSynonym schistosomiasis DOID:1395 schistosomiasis confirmed schistosomiasis DOID:1395 DOID MONDO:0015260 diphyllobothriasis oio:hasExactSynonym Diphyllobothrium infection DOID:10075 diphyllobothriasis confirmed Diphyllobothrium infection DOID:10075 DOID MONDO:0015260 diphyllobothriasis oio:hasExactSynonym fish tapeworm DOID:10075 diphyllobothriasis confirmed fish tapeworm DOID:10075 DOID @@ -24146,7 +23998,6 @@ MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic b MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 confirmed bronchiolitis obliterans organising pneumonia DOID:0050157 DOID MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym cryptogenic organising pneumonitis cryptogenic organising pneumonitis Cryptogenic organising pneumonitis DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 confirmed cryptogenic organising pneumonitis DOID:0050157 DOID MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/OMO_0003005 confirmed idiopathic bronchiolitis obliterans with organising pneumonia DOID:0050157 DOID -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP DOID:0050157 cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BOOP DOID:0050157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym bronchiolitis fibrosa obliterans bronchiolitis fibrosa obliterans Bronchiolitis fibrosa obliterans DOID:2799 bronchiolitis obliterans confirmed bronchiolitis fibrosa obliterans DOID:2799 DOID MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome DOID:0060464 Feingold syndrome confirmed MODED syndrome DOID:0060464 DOID MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome DOID:0060464 Feingold syndrome confirmed ODED syndrome DOID:0060464 DOID @@ -24163,7 +24014,6 @@ MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym parafollicu MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym thyroid gland medullary carcinoma DOID:3973 medullary thyroid carcinoma confirmed thyroid gland medullary carcinoma DOID:3973 DOID MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumor ultimobranchial thyroid tumor Ultimobranchial thyroid tumor DOID:3973 medullary thyroid carcinoma confirmed ultimobranchial thyroid tumor DOID:3973 DOID MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym ultimobranchial thyroid tumour ultimobranchial thyroid tumour Ultimobranchial thyroid tumour DOID:3973 medullary thyroid carcinoma http://purl.obolibrary.org/obo/OMO_0003005 confirmed ultimobranchial thyroid tumour DOID:3973 DOID -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC DOID:0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMC DOID:0111529 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym chronic mucocutaneous candidiasis DOID:2058 chronic mucocutaneous candidiasis confirmed chronic mucocutaneous candidiasis DOID:2058 DOID MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome confirmed CFC syndrome DOID:0060233 DOID MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardio-facial-cutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome confirmed cardio-facial-cutaneous syndrome DOID:0060233 DOID @@ -24181,7 +24031,6 @@ MONDO:0015306 Lemierre syndrome oio:hasExactSynonym postanginal sepsis DOID:1 MONDO:0015306 Lemierre syndrome oio:hasRelatedSynonym acute sore throat DOID:11337 Lemierre's syndrome confirmed acute sore throat DOID:11337 DOID MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym lipoid dermatoarthritis lipoid dermatoarthritis Lipoid dermatoarthritis DOID:11824 multicentric reticulohistiocytosis confirmed lipoid dermatoarthritis DOID:11824 DOID MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis DOID:11824 multicentric reticulohistiocytosis confirmed multicentric reticulohistiocytosis DOID:11824 DOID -MONDO:0015352 distal hereditary motor neuropathy type 2 oio:hasExactSynonym DSMA2 dSMA2 DSMA2 DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DSMA2 DOID:0111065 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 confirmed distal spinal muscular atrophy with vocal cord paralysis DOID:0111199 DOID MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym dHMN7 DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed dHMN7 DOID:0111199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasExactSynonym autosomal dominant dHMN DOID:0111198 autosomal dominant distal hereditary motor neuronopathy confirmed autosomal dominant dHMN DOID:0111198 DOID @@ -24190,7 +24039,6 @@ MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant oio:hasE MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy DOID:0111197 autosomal recessive distal hereditary motor neuronopathy confirmed autosomal recessive distal spinal muscular atrophy DOID:0111197 DOID MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy DOID:0050548 hereditary sensory neuropathy confirmed hereditary sensory and autonomic neuropathy DOID:0050548 DOID MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory neuropathy DOID:0050548 hereditary sensory neuropathy confirmed hereditary sensory neuropathy DOID:0050548 DOID -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain DOID:0081075 Marsili syndrome confirmed congenital insensitivity to pain DOID:0081075 DOID MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome confirmed Oral-Facial-Digital Syndrome DOID:4501 DOID MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome DOID:4501 orofaciodigital syndrome confirmed oral-facial-digital syndrome DOID:4501 DOID MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome DOID:4501 orofaciodigital syndrome confirmed orofaciodigital syndrome DOID:4501 DOID @@ -24205,7 +24053,6 @@ MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia D MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome desbuquois syndrome Desbuquois syndrome DOID:0060462 Desbuquois dysplasia confirmed desbuquois syndrome DOID:0060462 DOID MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 Desbuquois dysplasia confirmed micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification DOID:0060462 DOID MONDO:0015447 differentiated thyroid carcinoma oio:hasExactSynonym differentiated thyroid gland carcinoma DOID:0080525 differentiated high-grade thyroid carcinoma confirmed differentiated thyroid gland carcinoma DOID:0080525 DOID -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 confirmed fifth digit syndrome DOID:0070042 DOID MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym dwarfism-onychodysplasia dwarfism-onychodysplasia Dwarfism-Onychodysplasia DOID:1925 Coffin-Siris syndrome confirmed dwarfism-onychodysplasia DOID:1925 DOID MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome confirmed fifth digit syndrome DOID:1925 DOID MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym short stature-onychodysplasia. short stature-onychodysplasia. Short Stature-Onychodysplasia. DOID:1925 Coffin-Siris syndrome confirmed short stature-onychodysplasia. DOID:1925 DOID @@ -24213,7 +24060,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome DOID:0060216 Cogan syndrome confirmed Cogan syndrome DOID:0060216 DOID MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan's syndrome DOID:0060216 Cogan syndrome confirmed Cogan's syndrome DOID:0060216 DOID MONDO:0015453 Cogan syndrome oio:hasExactSynonym diffuse interstitual keratitis DOID:0060216 Cogan syndrome confirmed diffuse interstitual keratitis DOID:0060216 DOID -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD DOID:0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD DOID:0111152 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency confirmed multiple carboxylase deficiency DOID:857 DOID MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma DOID:9261 nasopharynx carcinoma confirmed nasopharyngeal carcinoma DOID:9261 DOID MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharynx carcinoma DOID:9261 nasopharynx carcinoma confirmed nasopharynx carcinoma DOID:9261 DOID @@ -24264,12 +24110,10 @@ MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynony MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS DOID:0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VEODS DOID:0111840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015609 advanced sleep phase syndrome oio:hasExactSynonym familial advanced sleep-phase syndrome DOID:0050628 advanced sleep phase syndrome confirmed familial advanced sleep-phase syndrome DOID:0050628 DOID MONDO:0015612 Dent disease oio:hasExactSynonym Dent's disease DOID:0050699 Dent disease confirmed Dent's disease DOID:0050699 DOID -MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets DOID:0080353 X-linked recessive hypophosphatemic rickets confirmed X-linked recessive hypophosphatemic rickets DOID:0080353 DOID MONDO:0015613 dentin dysplasia oio:hasExactSynonym dentinal dysplasia dentinal dysplasia Dentinal dysplasia DOID:701 dentin dysplasia confirmed dentinal dysplasia DOID:701 DOID MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym Duhring's disease DOID:8505 dermatitis herpetiformis confirmed Duhring's disease DOID:8505 DOID MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatitis herpetiformis DOID:8505 dermatitis herpetiformis confirmed dermatitis herpetiformis DOID:8505 DOID MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatosis herpetiformis dermatosis herpetiformis Dermatosis herpetiformis DOID:8505 dermatitis herpetiformis confirmed dermatosis herpetiformis DOID:8505 DOID -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy DOID:0110152 Charcot-Marie-Tooth disease type 1B confirmed peroneal muscular atrophy DOID:0110152 DOID MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym CMT - Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease confirmed CMT - Charcot-Marie-Tooth disease DOID:10595 DOID MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease DOID:10595 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease DOID:10595 DOID MONDO:0015636 dirofilariasis oio:hasExactSynonym Dirofilaria infectious disease DOID:1082 dirofilariasis confirmed Dirofilaria infectious disease DOID:1082 DOID @@ -24295,8 +24139,6 @@ MONDO:0015696 Good syndrome oio:hasExactSynonym thymoma with hypogammaglobuline MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy DOID:624 transient hypogammaglobulinemia of infancy confirmed transient hypogammaglobulinemia of infancy DOID:624 DOID MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency oio:hasExactSynonym CD45 deficiency DOID:0060014 CD45 deficiency confirmed CD45 deficiency DOID:0060014 DOID MONDO:0015705 autosomal recessive centronuclear myopathy oio:hasExactSynonym AR-CNM DOID:0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AR-CNM DOID:0111216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym Male infertility due to round-headed spermatozoa Male infertility due to round-headed spermatozoa male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 confirmed Male infertility due to round-headed spermatozoa DOID:0111156 DOID -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to round-headed spermatozoa DOID:0111156 spermatogenic failure 9 confirmed male infertility due to round-headed spermatozoa DOID:0111156 DOID MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym male infertility due to globozoospermia DOID:0112312 male infertility due to globozoospermia confirmed male infertility due to globozoospermia DOID:0112312 DOID MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus confirmed White sponge nevus of Cannon DOID:0050448 DOID MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym hereditary mucosal leukokeratosis DOID:0050448 white sponge nevus confirmed hereditary mucosal leukokeratosis DOID:0050448 DOID @@ -24309,7 +24151,6 @@ MONDO:0015766 cholera oio:hasExactSynonym cholera - Vibrio cholerae cholera - V MONDO:0015766 cholera oio:hasExactSynonym cholera due to Vibrio cholerae cholera due to Vibrio cholerae Cholera due to Vibrio cholerae DOID:1498 cholera confirmed cholera due to Vibrio cholerae DOID:1498 DOID MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata confirmed chondrodysplasia punctata, rhizomelic form DOID:2580 DOID MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata DOID:2580 rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed rhizomelic chondrodysplasia punctata DOID:2580 DOID -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis oio:hasExactSynonym Mixed gonadal dysgenesis Mixed gonadal dysgenesis mixed gonadal dysgenesis DOID:14449 mixed gonadal dysgenesis confirmed Mixed gonadal dysgenesis DOID:14449 DOID MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita DOID:2729 dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed dyskeratosis congenita DOID:2729 DOID MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor DOID:0050905 inflammatory myofibroblastic tumor confirmed inflammatory myofibroblastic tumor DOID:0050905 DOID MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym autosomal dominant non-syndromic mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed autosomal dominant non-syndromic mental retardation DOID:0060307 DOID @@ -24349,7 +24190,6 @@ MONDO:0016006 Cockayne syndrome oio:hasExactSynonym Neill-Dingwall syndrome D MONDO:0016006 Cockayne syndrome oio:hasRelatedSynonym Cockayne's syndrome DOID:2962 Cockayne syndrome confirmed Cockayne's syndrome DOID:2962 DOID MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym alcohol-related neurodevelopmental disorder DOID:0050667 alcohol-related neurodevelopmental disorder confirmed alcohol-related neurodevelopmental disorder DOID:0050667 DOID MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARND DOID:0050667 alcohol-related neurodevelopmental disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARND DOID:0050667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD DOID:0050668 alcohol-related birth defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARBD DOID:0050668 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym early myoclonic encephalopathy DOID:308 early myoclonic encephalopathy confirmed early myoclonic encephalopathy DOID:308 DOID MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures - myoclonic epileptic seizures - myoclonic Epileptic seizures - myoclonic DOID:308 early myoclonic encephalopathy confirmed epileptic seizures - myoclonic DOID:308 DOID MONDO:0016022 early myoclonic encephalopathy oio:hasExactSynonym epileptic seizures, myoclonic epileptic seizures, myoclonic Epileptic seizures, myoclonic DOID:308 early myoclonic encephalopathy confirmed epileptic seizures, myoclonic DOID:308 DOID @@ -24399,7 +24239,6 @@ MONDO:0016239 cystinosis oio:hasExactSynonym cystine storage disease DOID:106 MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis DOID:1064 cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cystinosis DOID:1064 DOID MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood DOID:0050635 alternating hemiplegia of childhood confirmed alternating hemiplegia of childhood DOID:0050635 DOID MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia congenital adrenal hypoplasia DOID:0080156 X-linked adrenal hypoplasia congenita confirmed congenital adrenal Hypoplasia DOID:0080156 DOID MONDO:0016242 hemoglobin C disease oio:hasExactSynonym Hb-C disease DOID:2859 hemoglobin C disease confirmed Hb-C disease DOID:2859 DOID MONDO:0016243 hemoglobin E disease oio:hasExactSynonym Hb-E disease DOID:5379 hemoglobin E disease confirmed Hb-E disease DOID:5379 DOID MONDO:0016243 hemoglobin E disease oio:hasExactSynonym hemoglobin E disease DOID:5379 hemoglobin E disease confirmed hemoglobin E disease DOID:5379 DOID @@ -24508,7 +24347,6 @@ MONDO:0016681 gliosarcoma oio:hasExactSynonym gliosarcoma DOID:3071 gliosarco MONDO:0016682 giant cell glioblastoma oio:hasExactSynonym Monstrocellular sarcoma DOID:3074 giant cell glioblastoma confirmed Monstrocellular sarcoma DOID:3074 DOID MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym astrocytosis cerebri astrocytosis cerebri Astrocytosis cerebri DOID:6128 gliomatosis cerebri confirmed astrocytosis cerebri DOID:6128 DOID MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri DOID:6128 gliomatosis cerebri confirmed gliomatosis cerebri DOID:6128 DOID -MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym malignant astrocytoma DOID:3069 malignant astrocytoma confirmed malignant astrocytoma DOID:3069 DOID MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym anaplastic astrocytoma DOID:3078 anaplastic astrocytoma confirmed anaplastic astrocytoma DOID:3078 DOID MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytic tumor grade III astrocytic tumor grade III Astrocytic tumor DOID:3078 anaplastic astrocytoma confirmed grade III astrocytic tumor DOID:3078 DOID MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytoma DOID:3078 anaplastic astrocytoma confirmed grade III astrocytoma DOID:3078 DOID @@ -24565,7 +24403,6 @@ MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumor MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 malignant triton tumor confirmed malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma DOID:6707 DOID MONDO:0016757 malignant triton tumor oio:hasExactSynonym malignant Triton tumour DOID:6707 malignant triton tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed malignant Triton tumour DOID:6707 DOID MONDO:0016759 pontocerebellar hypoplasia type 2 oio:hasExactSynonym PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondyloepiphyseal dysplasia DOID:0050813 DOID MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondyloepiphyseal dysplasia DOID:0112280 DOID MONDO:0016761 spondyloepiphyseal dysplasia oio:hasExactSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondylometaphyseal dysplasia DOID:0112295 DOID @@ -24639,8 +24476,6 @@ MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Lloyd's syndrom MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome DOID:14040 autoimmune polyendocrine syndrome confirmed autoimmune polyendocrine syndrome DOID:14040 DOID MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy DOID:14040 autoimmune polyendocrine syndrome confirmed autoimmune polyendocrinopathy DOID:14040 DOID MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure DOID:14040 autoimmune polyendocrine syndrome confirmed autoimmune polyglandular failure DOID:14040 DOID -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome antiphospholipid syndrome DOID:2988 antiphospholipid syndrome confirmed Antiphospholipid Syndrome DOID:2988 DOID -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS DOID:2988 antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed APS DOID:2988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease DOID:0060894 early-onset Parkinson's disease confirmed early-onset Parkinson disease DOID:0060894 DOID MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym alveolococcosis DOID:12148 alveolar echinococcosis confirmed alveolococcosis DOID:12148 DOID MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym multilocular hydatid multilocular hydatid Multilocular hydatid DOID:12148 alveolar echinococcosis confirmed multilocular hydatid DOID:12148 DOID @@ -24653,7 +24488,6 @@ MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis DOID MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome confirmed multiple mitochondrial dysfunctions syndrome DOID:0070330 DOID MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma plasmablastic lymphoma DOID:0080779 plasmablastic lymphoma confirmed Plasmablastic lymphoma DOID:0080779 DOID MONDO:0017364 POEMS syndrome oio:hasExactSynonym POEMS syndrome DOID:14039 POEMS syndrome confirmed POEMS syndrome DOID:14039 DOID -MONDO:0017364 POEMS syndrome oio:hasExactSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma confirmed osteosclerotic myeloma DOID:9541 DOID MONDO:0017373 poliomyelitis oio:hasExactSynonym poliomyelitis DOID:4953 poliomyelitis confirmed poliomyelitis DOID:4953 DOID MONDO:0017376 reactive arthritis oio:hasExactSynonym post-bacterial arthropathy post-bacterial arthropathy Post-bacterial arthropathy DOID:6196 reactive arthritis confirmed post-bacterial arthropathy DOID:6196 DOID MONDO:0017376 reactive arthritis oio:hasExactSynonym postdysenteric arthropathy DOID:6196 reactive arthritis confirmed postdysenteric arthropathy DOID:6196 DOID @@ -24685,7 +24519,6 @@ MONDO:0017572 tick-borne encephalitis oio:hasExactSynonym west-Siberian encepha MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome DOID:0060229 Baraitser-Winter syndrome confirmed Baraitser-Winter syndrome DOID:0060229 DOID MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym carcinoma of the pituitary gland carcinoma of the pituitary gland carcinoma of the Pituitary gland DOID:4916 pituitary carcinoma confirmed carcinoma of the pituitary gland DOID:4916 DOID MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym pituitary carcinoma DOID:4916 pituitary carcinoma confirmed pituitary carcinoma DOID:4916 DOID -MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer DOID:10020 ampulla of Vater cancer confirmed ampulla of Vater cancer DOID:10020 DOID MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater cancer ampulla of Vater cancer ampulla of vater cancer DOID:4932 ampulla of Vater carcinoma confirmed ampulla of Vater cancer DOID:4932 DOID MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampulla of Vater carcinoma DOID:4932 ampulla of Vater carcinoma confirmed ampulla of Vater carcinoma DOID:4932 DOID MONDO:0017590 carcinoma of the ampulla of vater oio:hasExactSynonym ampullary carcinoma DOID:4932 ampulla of Vater carcinoma confirmed ampullary carcinoma DOID:4932 DOID @@ -24734,7 +24567,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease DOID:8541 Sezary's disease confirmed Sezary disease DOID:8541 DOID MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome DOID:8541 Sezary's disease confirmed Sezary syndrome DOID:8541 DOID MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease DOID:8541 Sezary's disease confirmed Sezary's disease DOID:8541 DOID -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome DOID:9476 Sheehan syndrome confirmed Sheehan Syndrome DOID:9476 DOID MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia figurata variabilis erythrokeratodermia figurata variabilis Erythrokeratodermia Figurata Variabilis DOID:0050467 erythrokeratodermia variabilis confirmed erythrokeratodermia figurata variabilis DOID:0050467 DOID MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed erythrokeratodermia variabilis DOID:0050467 DOID MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym alveolitis DOID:841 extrinsic allergic alveolitis confirmed alveolitis DOID:841 DOID @@ -24770,7 +24602,6 @@ MONDO:0018018 wild type ATTR amyloidosis oio:hasExactSynonym Senile systemic am MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym deficiency, Laki-Lorand factor DOID:2211 factor XIII deficiency confirmed deficiency, Laki-Lorand factor DOID:2211 DOID MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym factor XIII deficiency disease factor XIII deficiency disease Factor XIII deficiency disease DOID:2211 factor XIII deficiency confirmed factor XIII deficiency disease DOID:2211 DOID MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym hereditary factor XIII deficiency disease hereditary factor XIII deficiency disease Hereditary factor XIII deficiency disease DOID:2211 factor XIII deficiency confirmed hereditary factor XIII deficiency disease DOID:2211 DOID -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome DOID:3261 hyper IgE recurrent infection syndrome 1 confirmed hyperimmunoglobulin E syndrome DOID:3261 DOID MONDO:0018039 selective IgM deficiency oio:hasExactSynonym selective IgM deficiency disease DOID:0050222 selective IgM deficiency disease confirmed selective IgM deficiency disease DOID:0050222 DOID MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym ATFB DOID:0050650 familial atrial fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATFB DOID:0050650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym childhood hepatocellular carcinoma DOID:0070322 childhood hepatocellular carcinoma confirmed childhood hepatocellular carcinoma DOID:0070322 DOID @@ -24785,7 +24616,6 @@ MONDO:0018071 trisomy 18 oio:hasExactSynonym E3 trisomy E3 trisomy E3 Trisomy D MONDO:0018071 trisomy 18 oio:hasExactSynonym Edwards syndrome DOID:1085 Edwards syndrome confirmed Edwards syndrome DOID:1085 DOID MONDO:0018071 trisomy 18 oio:hasExactSynonym complete trisomy 18 syndrome complete trisomy 18 syndrome Complete trisomy 18 syndrome DOID:1085 Edwards syndrome confirmed complete trisomy 18 syndrome DOID:1085 DOID MONDO:0018071 trisomy 18 oio:hasExactSynonym trisomy 18 DOID:1085 Edwards syndrome confirmed trisomy 18 DOID:1085 DOID -MONDO:0018075 neural tube defect oio:hasExactSynonym spinal dysraphism DOID:1089 tethered spinal cord syndrome confirmed spinal dysraphism DOID:1089 DOID MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym benign paroxysmal peritonitis DOID:2987 familial Mediterranean fever confirmed benign paroxysmal peritonitis DOID:2987 DOID MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF DOID:2987 familial Mediterranean fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FMF DOID:2987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018089 double outlet right ventricle oio:hasExactSynonym Dextrotransposition of aorta DOID:6406 double outlet right ventricle confirmed Dextrotransposition of aorta DOID:6406 DOID @@ -24806,8 +24636,6 @@ MONDO:0018097 West syndrome oio:hasRelatedSynonym Infantile spasms syndrome D MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym primary familial hypomagnesemia DOID:0060879 primary hypomagnesemia confirmed primary familial hypomagnesemia DOID:0060879 DOID MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018102 corneal dystrophy oio:hasExactSynonym corneal dystrophy DOID:2566 corneal dystrophy confirmed corneal dystrophy DOID:2566 DOID -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus AND insipidus with optic atrophy AND deafness DOID:0110629 Wolfram syndrome 1 confirmed diabetes mellitus and insipidus with optic atrophy and deafness DOID:0110629 DOID -MONDO:0018105 Wolfram syndrome oio:hasExactSynonym DIDMOAD DOID:0110629 Wolfram syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIDMOAD DOID:0110629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018105 Wolfram syndrome oio:hasExactSynonym Wolfram syndrome DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Wolfram syndrome DOID:10632 DOID MONDO:0018105 Wolfram syndrome oio:hasExactSynonym WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria DOID:0060236 xanthinuria confirmed classic xanthinuria DOID:0060236 DOID @@ -24821,8 +24649,6 @@ MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym Beta-galactosidase deficie MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym beta-galactosidase deficiency beta-galactosidase deficiency Beta-galactosidase deficiency DOID:3322 GM1 gangliosidosis confirmed beta-galactosidase deficiency DOID:3322 DOID MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym deficiency of beta-galactosidase DOID:3322 GM1 gangliosidosis confirmed deficiency of beta-galactosidase DOID:3322 DOID MONDO:0018149 GM1 gangliosidosis oio:hasExactSynonym gangliosidosis GM1 DOID:3322 GM1 gangliosidosis confirmed gangliosidosis GM1 DOID:3322 DOID -MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency acid beta-glucosidase deficiency Acid Beta-Glucosidase Deficiency DOID:0110957 Gaucher's disease type I confirmed acid beta-glucosidase deficiency DOID:0110957 DOID -MONDO:0018150 Gaucher disease oio:hasExactSynonym glucocerebrosidase deficiency glucocerebrosidase deficiency Glucocerebrosidase Deficiency DOID:0110957 Gaucher's disease type I confirmed glucocerebrosidase deficiency DOID:0110957 DOID MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher's disease DOID:1926 Gaucher's disease confirmed Gaucher's disease DOID:1926 DOID MONDO:0018150 Gaucher disease oio:hasExactSynonym acid beta-glucosidase deficiency DOID:1926 Gaucher's disease confirmed acid beta-glucosidase deficiency DOID:1926 DOID MONDO:0018150 Gaucher disease oio:hasExactSynonym glocucerebrosidase deficiency DOID:1926 Gaucher's disease confirmed glocucerebrosidase deficiency DOID:1926 DOID @@ -24845,7 +24671,6 @@ MONDO:0018166 oral submucous fibrosis oio:hasExactSynonym oral submucosal fibro MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant germ cell tumor of ovary DOID:2155 malignant ovarian germ cell neoplasm confirmed malignant germ cell tumor of ovary DOID:2155 DOID MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell neoplasm DOID:2155 malignant ovarian germ cell neoplasm confirmed malignant ovarian germ cell neoplasm DOID:2155 DOID MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym malignant ovarian germ cell tumor malignant ovarian germ cell tumor malignant Ovarian germ cell tumor DOID:2155 malignant ovarian germ cell neoplasm confirmed malignant ovarian germ cell tumor DOID:2155 DOID -MONDO:0018171 malignant germ cell tumor of ovary oio:hasExactSynonym ovarian germ cell cancer DOID:2156 ovarian germ cell cancer confirmed ovarian germ cell cancer DOID:2156 DOID MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma DOID:3068 glioblastoma confirmed glioblastoma DOID:3068 DOID MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme DOID:3068 glioblastoma confirmed glioblastoma multiforme DOID:3068 DOID MONDO:0018177 glioblastoma oio:hasExactSynonym primary glioblastoma multiforme DOID:3068 glioblastoma confirmed primary glioblastoma multiforme DOID:3068 DOID @@ -24870,11 +24695,8 @@ MONDO:0018233 otopalatodigital syndrome spectrum disorder oio:hasExactSynonym O MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis DOID:1934 dysostosis confirmed dysostosis DOID:1934 DOID MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma DOID:4232 extraosseous Ewing sarcoma confirmed extraosseous Ewing sarcoma DOID:4232 DOID MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma DOID:4232 extraosseous Ewing sarcoma confirmed extraosseous Ewing's sarcoma DOID:4232 DOID -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor confirmed extraosseous Ewing's tumor DOID:4985 DOID -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed extraosseous Ewing's tumour DOID:4985 DOID MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt & pepper syndrome DOID:0060470 salt and pepper syndrome confirmed salt & pepper syndrome DOID:0060470 DOID MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt-and-pepper syndrome DOID:0060470 salt and pepper syndrome confirmed salt-and-pepper syndrome DOID:0060470 DOID -MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym CMD due to dystroglycanopathy DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 confirmed CMD due to dystroglycanopathy DOID:0050588 DOID MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym muscular dystrophy-dystroglycanopathy DOID:0112374 muscular dystrophy-dystroglycanopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed muscular dystrophy-dystroglycanopathy DOID:0112374 DOID MONDO:0018301 interstitial cystitis oio:hasExactSynonym ulcerative cystitis DOID:13949 interstitial cystitis confirmed ulcerative cystitis DOID:13949 DOID MONDO:0018301 interstitial cystitis oio:hasExactSynonym chronic interstitial cystitis DOID:1678 chronic interstitial cystitis confirmed chronic interstitial cystitis DOID:1678 DOID @@ -24939,8 +24761,6 @@ MONDO:0018408 cystic echinococcosis oio:hasExactSynonym lung echinococcus granu MONDO:0018408 cystic echinococcosis oio:hasExactSynonym thyroid echinococcus granulosus thyroid echinococcus granulosus Thyroid echinococcus granulosus DOID:1495 cystic echinococcosis confirmed thyroid echinococcus granulosus DOID:1495 DOID MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular echinococcosis DOID:1495 cystic echinococcosis confirmed unilocular echinococcosis DOID:1495 DOID MONDO:0018408 cystic echinococcosis oio:hasExactSynonym unilocular hydatid disease DOID:1495 cystic echinococcosis confirmed unilocular hydatid disease DOID:1495 DOID -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym Hydatidosis Hydatidosis hydatidosis DOID:1496 echinococcosis confirmed Hydatidosis DOID:1496 DOID -MONDO:0018408 cystic echinococcosis oio:hasExactSynonym hydatid disease DOID:1496 echinococcosis confirmed hydatid disease DOID:1496 DOID MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia confirmed familial benign hypercalcemia DOID:0060699 DOID MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypocalciuric hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia confirmed familial benign hypocalciuric hypercalcemia DOID:0060699 DOID MONDO:0018465 insulin autoimmune syndrome oio:hasExactSynonym Hirata disease DOID:0040100 Hirata disease confirmed Hirata disease DOID:0040100 DOID @@ -24976,7 +24796,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym mucinous cyst MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma DOID:6827 pancreatic solid pseudopapillary carcinoma confirmed pancreatic solid pseudopapillary carcinoma DOID:6827 DOID MONDO:0018540 PFAPA syndrome oio:hasExactSynonym Marshall syndrome with periodic fever DOID:0081451 PFAPA syndrome confirmed Marshall syndrome with periodic fever DOID:0081451 DOID MONDO:0018540 PFAPA syndrome oio:hasExactSynonym periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 PFAPA syndrome confirmed periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome DOID:0081451 DOID -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome confirmed diffuse cerebral sclerosis of Schilder DOID:0080122 DOID MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt Disease DOID:10588 adrenoleukodystrophy confirmed Siemerling-Creutzfeldt disease DOID:10588 DOID MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-Linked Adrenoleukodystrophy X-Linked Adrenoleukodystrophy X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy confirmed X-Linked Adrenoleukodystrophy DOID:10588 DOID MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-linked adrenoleukodystrophy DOID:10588 adrenoleukodystrophy confirmed X-linked adrenoleukodystrophy DOID:10588 DOID @@ -24986,7 +24805,6 @@ MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym encephalitis periaxialis MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis DOID:10588 adrenoleukodystrophy confirmed sudanophilic cerebral sclerosis DOID:10588 DOID MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym ALD DOID:10588 adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALD DOID:10588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism confirmed hypogonadotropic hypogonadism DOID:0090070 DOID -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome confirmed hypogonadotropic hypogonadism DOID:1921 DOID MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Eaton-Lambert syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome confirmed Eaton-Lambert syndrome DOID:0050214 DOID MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert-Eaton syndrome DOID:0050214 Lambert-Eaton myasthenic syndrome confirmed Lambert-Eaton syndrome DOID:0050214 DOID MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym LEMS DOID:0050214 Lambert-Eaton myasthenic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LEMS DOID:0050214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -24996,7 +24814,6 @@ MONDO:0018582 GCGR-related hyperglucagonemia oio:hasExactSynonym nesidioblastos MONDO:0018590 ABeta2M amyloidosis oio:hasExactSynonym Beta2-microglobulinic amyloidosis DOID:0080928 dialysis-related amyloidosis confirmed Beta2-microglobulinic amyloidosis DOID:0080928 DOID MONDO:0018612 congenital hypothyroidism oio:hasExactSynonym congenital hypothyroidism DOID:0050328 congenital hypothyroidism confirmed congenital hypothyroidism DOID:0050328 DOID MONDO:0018613 AH amyloidosis oio:hasExactSynonym heavy chain amyloidosis heavy chain amyloidosis Heavy chain amyloidosis DOID:0080934 immunoglobulin heavy chain amyloidosis confirmed heavy chain amyloidosis DOID:0080934 DOID -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Primary sclerosing cholangitis primary sclerosing cholangitis DOID:0060643 primary sclerosing cholangitis confirmed Primary sclerosing cholangitis DOID:0060643 DOID MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym fibrosing cholangitis DOID:14268 sclerosing cholangitis confirmed fibrosing cholangitis DOID:14268 DOID MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis DOID:14268 sclerosing cholangitis confirmed sclerosing cholangitis DOID:14268 DOID MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease DOID:0060478 Zika fever confirmed Zika virus disease DOID:0060478 DOID @@ -25008,7 +24825,6 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia DOID:005054 MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus DOID:0050545 visceral heterotaxy confirmed situs ambiguus DOID:0050545 DOID MONDO:0018677 visceral heterotaxy oio:hasExactSynonym visceral heterotaxy DOID:0050545 visceral heterotaxy confirmed visceral heterotaxy DOID:0050545 DOID MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym progressive spinal muscular atrophy DOID:318 progressive muscular atrophy confirmed progressive spinal muscular atrophy DOID:318 DOID -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym PCL DOID:0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCL DOID:0070212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia DOID:9513 plasma cell leukemia confirmed plasma cell leukemia DOID:9513 DOID MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia DOID:9513 plasma cell leukemia confirmed plasmacytic leukemia DOID:9513 DOID MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukaemia DOID:9513 plasma cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed plasmacytic leukaemia DOID:9513 DOID @@ -25036,7 +24852,6 @@ MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia w MONDO:0018770 Jeune syndrome oio:hasExactSynonym thoracic pelvic phalangeal dystrophy DOID:0050592 asphyxiating thoracic dystrophy confirmed thoracic pelvic phalangeal dystrophy DOID:0050592 DOID MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Joubert syndrome DOID:0050777 DOID MONDO:0018772 Joubert syndrome oio:hasExactSynonym JBTS DOID:0050777 Joubert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JBTS DOID:0050777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0018772 Joubert syndrome oio:hasExactSynonym cerebelloparenchymal disorder IV DOID:0110980 Joubert syndrome 1 confirmed cerebelloparenchymal disorder IV DOID:0110980 DOID MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease intermediate type DOID:0050543 Charcot-Marie-Tooth disease intermediate type confirmed Charcot-Marie-Tooth disease intermediate type DOID:0050543 DOID MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman syndrome DOID:3614 Kallmann syndrome confirmed Kallman syndrome DOID:3614 DOID MONDO:0018800 Kallmann syndrome oio:hasExactSynonym Kallman's syndrome DOID:3614 Kallmann syndrome confirmed Kallman's syndrome DOID:3614 DOID @@ -25055,7 +24870,6 @@ MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym CBA D MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma DOID:7232 central nervous system embryonal carcinoma confirmed central nervous system embryonal carcinoma DOID:7232 DOID MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal carcinoma of CNS DOID:7232 central nervous system embryonal carcinoma confirmed embryonal carcinoma of CNS DOID:7232 DOID MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta DOID:4154 dentinogenesis imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed dentinogenesis imperfecta DOID:4154 DOID -MONDO:0018852 achromatopsia oio:hasExactSynonym Pingelapese blindness DOID:0110008 achromatopsia 3 confirmed Pingelapese blindness DOID:0110008 DOID MONDO:0018852 achromatopsia oio:hasExactSynonym monochromatism monochromatism Monochromatism DOID:13911 achromatopsia confirmed monochromatism DOID:13911 DOID MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed achromatopsia DOID:13911 DOID MONDO:0018852 achromatopsia oio:hasExactSynonym ACHM DOID:13911 achromatopsia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACHM DOID:13911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -25088,12 +24902,10 @@ MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym sarcoma, breast, leukaem MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Li-Fraumeni syndrome DOID:3012 DOID MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS DOID:3012 Li-Fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LFS DOID:3012 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma DOID:0050746 mantle cell lymphoma confirmed mantle cell lymphoma DOID:0050746 DOID -MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM DOID:12155 lymphocytic choriomeningitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCM DOID:12155 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018878 branchiootic syndrome oio:hasExactSynonym bo syndrome bo syndrome BO syndrome DOID:0060232 branchiootic syndrome confirmed bo syndrome DOID:0060232 DOID MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia DOID:0060232 branchiootic syndrome confirmed branchiootic dysplasia DOID:0060232 DOID MONDO:0018878 branchiootic syndrome oio:hasExactSynonym BOR bor BOR DOID:0060232 branchiootic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BOR DOID:0060232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome DOID:0050908 myelodysplastic syndrome confirmed myelodysplastic syndrome DOID:0050908 DOID -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS DOID:0060469 Miller-Dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS DOID:0060469 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018889 hyaline body myopathy oio:hasExactSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy confirmed myosin storage myopathy DOID:0111267 DOID MONDO:0018896 thrombotic thrombocytopenic purpura oio:hasExactSynonym Moschcowitz's syndrome DOID:10772 thrombotic thrombocytopenic purpura confirmed Moschcowitz's syndrome DOID:10772 DOID MONDO:0018901 left ventricular noncompaction oio:hasExactSynonym left ventricular hypertrabeculation DOID:0060480 left ventricular noncompaction confirmed left ventricular hypertrabeculation DOID:0060480 DOID @@ -25197,7 +25009,6 @@ MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym brittle bone disease MONDO:0019019 osteogenesis imperfecta oio:hasRelatedSynonym Fragilitas ossium DOID:12347 osteogenesis imperfecta confirmed Fragilitas ossium DOID:12347 DOID MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis DOID:3663 cutaneous mastocytosis confirmed cutaneous mastocytosis DOID:3663 DOID MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS DOID:0060815 Miles-Carpenter syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCS DOID:0060815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast-cell sarcoma DOID:355 mast-cell sarcoma confirmed mast-cell sarcoma DOID:355 DOID MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma DOID:4659 extracutaneous mastocytoma confirmed extracutaneous mastocytoma DOID:4659 DOID MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome DOID:678 progressive supranuclear palsy confirmed Steele-Richardson-Olszewski syndrome DOID:678 DOID @@ -25228,8 +25039,6 @@ MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocar MONDO:0019082 bullous pemphigoid oio:hasExactSynonym bullous pemphigoid DOID:8506 bullous pemphigoid confirmed bullous pemphigoid DOID:8506 DOID MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus DOID:1107 esophageal carcinoma confirmed carcinoma of esophagus DOID:1107 DOID MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma DOID:1107 esophageal carcinoma confirmed esophageal carcinoma DOID:1107 DOID -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym Esophageal cancer Esophageal cancer esophageal cancer DOID:5041 esophageal cancer confirmed Esophageal cancer DOID:5041 DOID -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA DOID:0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CCA DOID:0111595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocarcinoma adult primary cholangiocarcinoma adult primary Cholangiocarcinoma DOID:4947 cholangiocarcinoma confirmed adult primary cholangiocarcinoma DOID:4947 DOID MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym adult primary cholangiocellular carcinoma DOID:4947 cholangiocarcinoma confirmed adult primary cholangiocellular carcinoma DOID:4947 DOID MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma DOID:4947 cholangiocarcinoma confirmed cholangiocarcinoma DOID:4947 DOID @@ -25361,7 +25170,6 @@ MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio: MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym junctional epidermolysis bullosa, Disentis type DOID:0060738 junctional epidermolysis bullosa non-Herlitz type confirmed junctional epidermolysis bullosa, Disentis type DOID:0060738 DOID MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym JEB-nH gen DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JEB-nH gen DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type oio:hasExactSynonym GABEB DOID:0060738 junctional epidermolysis bullosa non-Herlitz type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GABEB DOID:0060738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome hepatopulmonary syndrome DOID:900 hepatopulmonary syndrome confirmed Hepatopulmonary Syndrome DOID:900 DOID MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema DOID:0050580 hereditary lymphedema confirmed hereditary lymphedema DOID:0050580 DOID MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis DOID:3665 diffuse cutaneous mastocytosis confirmed diffuse cutaneous mastocytosis DOID:3665 DOID MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa confirmed urticaria pigmentosa DOID:12309 DOID @@ -25369,7 +25177,6 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM MONDO:0019338 sarcoidosis oio:hasExactSynonym Boeck sarcoid DOID:11335 sarcoidosis confirmed Boeck sarcoid DOID:11335 DOID MONDO:0019338 sarcoidosis oio:hasExactSynonym lymphogranulomatosis DOID:11335 sarcoidosis confirmed lymphogranulomatosis DOID:11335 DOID MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoidosis DOID:11335 sarcoidosis confirmed sarcoidosis DOID:11335 DOID -MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma scleroderma Scleroderma DOID:418 systemic scleroderma confirmed scleroderma DOID:418 DOID MONDO:0019340 scleroderma oio:hasExactSynonym dermatosclerosis DOID:419 scleroderma confirmed dermatosclerosis DOID:419 DOID MONDO:0019340 scleroderma oio:hasExactSynonym scleroderma DOID:419 scleroderma confirmed scleroderma DOID:419 DOID MONDO:0019342 Seckel syndrome oio:hasExactSynonym Harper's syndrome DOID:0050569 Seckel syndrome confirmed Harper's syndrome DOID:0050569 DOID @@ -25382,7 +25189,6 @@ MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin DOID:0 MONDO:0019347 peeling skin syndrome oio:hasExactSynonym familial continuous skin peeling syndrome DOID:0060283 peeling skin syndrome confirmed familial continuous skin peeling syndrome DOID:0060283 DOID MONDO:0019347 peeling skin syndrome oio:hasExactSynonym keratosis exfoliativa congenita DOID:0060283 peeling skin syndrome confirmed keratosis exfoliativa congenita DOID:0060283 DOID MONDO:0019347 peeling skin syndrome oio:hasExactSynonym peeling skin disease DOID:0060283 peeling skin syndrome confirmed peeling skin disease DOID:0060283 DOID -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome 1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Sotos syndrome 1 DOID:0112103 DOID MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism DOID:14748 Sotos syndrome confirmed cerebral gigantism DOID:14748 DOID MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome DOID:14748 Sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Sotos syndrome DOID:14748 DOID @@ -25395,7 +25201,6 @@ MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Adult-Onset Still's MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult onset Still's disease DOID:14256 adult-onset Still's disease confirmed adult onset Still's disease DOID:14256 DOID MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still disease DOID:14256 adult-onset Still's disease confirmed adult-onset Still disease DOID:14256 DOID MONDO:0019355 adult-onset Still disease oio:hasExactSynonym adult-onset Still's disease DOID:14256 adult-onset Still's disease confirmed adult-onset Still's disease DOID:14256 DOID -MONDO:0019355 adult-onset Still disease oio:hasExactSynonym Wissler-Fanconi syndrome DOID:3047 Wissler-Fanconi syndrome confirmed Wissler-Fanconi syndrome DOID:3047 DOID MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Brazilian spotted DOID:0050052 Rocky Mountain spotted fever confirmed Brazilian spotted DOID:0050052 DOID MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Choix DOID:0050052 Rocky Mountain spotted fever confirmed Choix DOID:0050052 DOID MONDO:0019359 Rocky mountain spotted fever oio:hasRelatedSynonym Fiebre maculosa DOID:0050052 Rocky Mountain spotted fever confirmed Fiebre maculosa DOID:0050052 DOID @@ -25408,7 +25213,6 @@ MONDO:0019360 rickettsialpox oio:hasExactSynonym Rickettsia akari spotted fever MONDO:0019360 rickettsialpox oio:hasExactSynonym vesicular rickettsiosis vesicular rickettsiosis Vesicular rickettsiosis DOID:11103 rickettsialpox confirmed vesicular rickettsiosis DOID:11103 DOID MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus DOID:0050480 epidemic typhus confirmed epidemic typhus DOID:0050480 DOID MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym sylvatic typhus DOID:0050480 epidemic typhus confirmed sylvatic typhus DOID:0050480 DOID -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic louse-borne typhus DOID:11256 typhus confirmed epidemic louse-borne typhus DOID:11256 DOID MONDO:0019365 scrub typhus oio:hasExactSynonym Japanese river fever DOID:13371 scrub typhus confirmed Japanese river fever DOID:13371 DOID MONDO:0019365 scrub typhus oio:hasExactSynonym Kedani fever DOID:13371 scrub typhus confirmed Kedani fever DOID:13371 DOID MONDO:0019365 scrub typhus oio:hasExactSynonym scrub mite-borne typhus scrub mite-borne typhus Scrub mite-borne typhus DOID:13371 scrub typhus confirmed scrub mite-borne typhus DOID:13371 DOID @@ -25439,7 +25243,6 @@ MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym ADEM D MONDO:0019384 encephalitis lethargica oio:hasExactSynonym encephalitis lethargica encephalitis lethargica Encephalitis lethargica DOID:5225 von Economo's disease confirmed encephalitis lethargica DOID:5225 DOID MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo disease DOID:5225 von Economo's disease confirmed von Economo disease DOID:5225 DOID MONDO:0019384 encephalitis lethargica oio:hasExactSynonym von Economo's disease DOID:5225 von Economo's disease confirmed von Economo's disease DOID:5225 DOID -MONDO:0019384 encephalitis lethargica oio:hasExactSynonym epidemic encephalitis DOID:646 viral encephalitis confirmed epidemic encephalitis DOID:646 DOID MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi pancytopenia DOID:13636 Fanconi anemia confirmed Fanconi pancytopenia DOID:13636 DOID MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi panmyelopathy DOID:13636 Fanconi anemia confirmed Fanconi panmyelopathy DOID:13636 DOID MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi's anemia DOID:13636 Fanconi anemia confirmed Fanconi's anemia DOID:13636 DOID @@ -25486,11 +25289,9 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer cell leukaemia natural Killer cell leukaemia natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed natural Killer cell leukaemia DOID:1035 DOID MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed natural killer cell leukaemia DOID:1035 DOID MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia DOID:0050523 DOID -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma adult t-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL DOID:5602 T-cell adult acute lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATLL DOID:5602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID +MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma nasal type extranodal NK/T-cell lymphoma DOID:0080797 nasal type extranodal NK/T-cell lymphoma confirmed nasal type Extranodal NK/T-cell lymphoma DOID:0080797 DOID -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym lethal midline granuloma DOID:9072 lethal midline granuloma confirmed lethal midline granuloma DOID:9072 DOID MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma DOID:0080915 histiocytic sarcoma confirmed histiocytic sarcoma DOID:0080915 DOID MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma DOID:7146 Langerhans cell sarcoma confirmed Langerhans cell sarcoma DOID:7146 DOID MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferation DOID:5821 methotrexate-associated lymphoproliferation confirmed methotrexate-associated lymphoproliferation DOID:5821 DOID @@ -25509,7 +25310,6 @@ MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, MONDO:0019499 Turner syndrome oio:hasExactSynonym monosomy X syndrome DOID:3491 Turner syndrome confirmed monosomy X syndrome DOID:3491 DOID MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed autosomal recessive mental retardation DOID:0060308 DOID MONDO:0019502 autosomal recessive non-syndromic intellectual disability oio:hasExactSynonym autosomal recessive non-syndromic mental retardation DOID:0060308 autosomal recessive intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed autosomal recessive non-syndromic mental retardation DOID:0060308 DOID -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 confirmed anterior segment mesenchymal dysgenesis DOID:0110122 DOID MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym familial exudative vitreoretinopathy DOID:0050535 exudative vitreoretinopathy confirmed familial exudative vitreoretinopathy DOID:0050535 DOID MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym FEVR DOID:0050535 exudative vitreoretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FEVR DOID:0050535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019537 hemoglobin D disease oio:hasExactSynonym Hb-D disease DOID:5378 hemoglobin D disease confirmed Hb-D disease DOID:5378 DOID @@ -25527,7 +25327,6 @@ MONDO:0019562 localized scleroderma oio:hasExactSynonym morphea morphea Morphea MONDO:0019562 localized scleroderma oio:hasExactSynonym Scleroderma, circumscribed or localised DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 confirmed Scleroderma, circumscribed or localised DOID:8472 DOID MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 confirmed localised morphea DOID:8472 DOID MONDO:0019562 localized scleroderma oio:hasExactSynonym localised morphoea DOID:8472 localized scleroderma http://purl.obolibrary.org/obo/OMO_0003005 confirmed localised morphoea DOID:8472 DOID -MONDO:0019563 CREST syndrome oio:hasExactSynonym limited cutaneous Systemic sclerosis limited cutaneous Systemic sclerosis Limited cutaneous systemic sclerosis DOID:1577 limited scleroderma confirmed limited cutaneous Systemic sclerosis DOID:1577 DOID MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym vascular pseudohemophilia DOID:12531 von Willebrand's disease confirmed vascular pseudohemophilia DOID:12531 DOID MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym von Willebrand-Jrgens disease DOID:12531 von Willebrand's disease confirmed von Willebrand-Jrgens disease DOID:12531 DOID MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 1 DOID:14720 Ehlers-Danlos syndrome classic type 1 confirmed Ehlers-Danlos syndrome, type 1 DOID:14720 DOID @@ -25623,7 +25422,6 @@ MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma DOID:5574 VIPoma confirmed MONDO:0019960 VIPoma oio:hasExactSynonym VIPoma, malignant VIPoma, malignant Vipoma, malignant DOID:5574 VIPoma confirmed VIPoma, malignant DOID:5574 DOID MONDO:0019960 VIPoma oio:hasExactSynonym malignant vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma confirmed malignant vasoactive intestinal peptide-secreting tumor DOID:5574 DOID MONDO:0019960 VIPoma oio:hasExactSynonym vasoactive intestinal peptide-secreting tumor vasoactive intestinal peptide-secreting tumor Vasoactive intestinal peptide-secreting tumor DOID:5574 VIPoma confirmed vasoactive intestinal peptide-secreting tumor DOID:5574 DOID -MONDO:0019960 VIPoma oio:hasExactSynonym Verner-Morrison syndrome DOID:6977 pancreatic cholera confirmed Verner-Morrison syndrome DOID:6977 DOID MONDO:0019962 thyroid lymphoma oio:hasExactSynonym thyroid lymphoma DOID:10011 thyroid lymphoma confirmed thyroid lymphoma DOID:10011 DOID MONDO:0019975 pellagra oio:hasExactSynonym niacin deficiency niacin deficiency Niacin deficiency DOID:8457 pellagra confirmed niacin deficiency DOID:8457 DOID MONDO:0019975 pellagra oio:hasExactSynonym niacin-tryptophan deficiency niacin-tryptophan deficiency Niacin-tryptophan deficiency DOID:8457 pellagra confirmed niacin-tryptophan deficiency DOID:8457 DOID @@ -25645,7 +25443,6 @@ MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemol MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked intellectual disability DOID:0060309 syndromic X-linked intellectual disability confirmed syndromic X-linked intellectual disability DOID:0060309 DOID MONDO:0020119 X-linked syndromic intellectual disability oio:hasExactSynonym syndromic X-linked mental retardation DOID:0060309 syndromic X-linked intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed syndromic X-linked mental retardation DOID:0060309 DOID MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease DOID:231 motor neuron disease confirmed motor neuron disease DOID:231 DOID -MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease DOID:4873 anterior horn cell disease confirmed anterior horn cell disease DOID:4873 DOID MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pontocerebellar hypoplasia DOID:0060264 DOID MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH DOID:0060264 pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH DOID:0060264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020143 cerebral lipidosis with dementia oio:hasExactSynonym cerebral lipidosis DOID:10742 cerebral lipidosis confirmed cerebral lipidosis DOID:10742 DOID @@ -25678,7 +25475,6 @@ MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventr MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym Schlichting dystrophy DOID:0060457 posterior polymorphous corneal dystrophy confirmed Schlichting dystrophy DOID:0060457 DOID MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym hereditary polymorphus posterior corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy confirmed hereditary polymorphus posterior corneal dystrophy DOID:0060457 DOID MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym PPCD DOID:0060457 posterior polymorphous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPCD DOID:0060457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0020366 congenital glaucoma oio:hasExactSynonym buphthalmos DOID:11211 buphthalmos confirmed buphthalmos DOID:11211 DOID MONDO:0020366 congenital glaucoma oio:hasExactSynonym hydrophthalmos DOID:11212 hydrophthalmos confirmed hydrophthalmos DOID:11212 DOID MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym glaucoma of childhood glaucoma of childhood Glaucoma of childhood DOID:1068 juvenile glaucoma confirmed glaucoma of childhood DOID:1068 DOID MONDO:0020367 juvenile open angle glaucoma oio:hasExactSynonym juvenile glaucoma DOID:1068 juvenile glaucoma confirmed juvenile glaucoma DOID:1068 DOID @@ -25712,8 +25508,6 @@ MONDO:0020502 yellow fever oio:hasExactSynonym Yellow fever, sylvan DOID:9682 MONDO:0020502 yellow fever oio:hasExactSynonym jungle yellow fever DOID:9682 yellow fever confirmed jungle yellow fever DOID:9682 DOID MONDO:0020502 yellow fever oio:hasExactSynonym sylvatic yellow fever sylvatic yellow fever Sylvatic yellow fever DOID:9682 yellow fever confirmed sylvatic yellow fever DOID:9682 DOID MONDO:0020502 yellow fever oio:hasExactSynonym urban yellow fever DOID:9682 yellow fever confirmed urban yellow fever DOID:9682 DOID -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter confirmed vanishing white matter leukodystrophy DOID:0060868 DOID -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym spermatocytic seminoma DOID:5834 spermatocytoma confirmed spermatocytic seminoma DOID:5834 DOID MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocytic seminoma DOID:7891 testicular spermatocytic seminoma confirmed testicular spermatocytic seminoma DOID:7891 DOID MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus DOID:0060334 transient neonatal diabetes mellitus confirmed transient neonatal diabetes mellitus DOID:0060334 DOID @@ -25790,11 +25584,9 @@ MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym spermatogenic failur MONDO:0020855 spermatogenic failure 32 oio:hasExactSynonym SPGF32 DOID:0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF32 DOID:0111925 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020857 ovarian dysgenesis 7 oio:hasExactSynonym OVARIAN DYSGENESIS 7 OVARIAN DYSGENESIS 7 ovarian dysgenesis 7 DOID:0080499 ovarian dysgenesis 7 confirmed OVARIAN DYSGENESIS 7 DOID:0080499 DOID MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym MC5DN5 DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MC5DN5 DOID:0070463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 oio:hasExactSynonym mitochondrial complex v (atp synthase) deficiency mitochondrial complex v (atp synthase) deficiency mitochondrial complex V (ATP synthase) deficiency DOID:0111143 mitochondrial complex V (ATP synthase) deficiency confirmed mitochondrial complex v (atp synthase) deficiency DOID:0111143 DOID MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym symptomatic form of hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 confirmed symptomatic form of hemochromatosis type 1 DOID:0111029 DOID MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hemochromatosis type 1 DOID:0111029 DOID MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 DOID:0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HFE1 DOID:0111029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis DOID:2352 hemochromatosis confirmed hemochromatosis DOID:2352 DOID MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly DOID:1148 polydactyly confirmed polydactyly DOID:1148 DOID MONDO:0021003 polydactyly oio:hasRelatedSynonym supernumerary digit supernumerary digit Supernumerary digit DOID:1148 polydactyly confirmed supernumerary digit DOID:1148 DOID MONDO:0021004 brachydactyly oio:hasExactSynonym brachydactyly DOID:0050581 brachydactyly confirmed brachydactyly DOID:0050581 DOID @@ -25807,21 +25599,15 @@ MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym familial startle dis MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym hereditary hyperekplexia DOID:0060695 hyperekplexia confirmed hereditary hyperekplexia DOID:0060695 DOID MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym startle disease DOID:0060695 hyperekplexia confirmed startle disease DOID:0060695 DOID MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 DOID:0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed alopecia-mental retardation syndrome 1 DOID:0080628 DOID -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 extraosseous Ewing sarcoma confirmed extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor DOID:4232 DOID MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor confirmed extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 DOID MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed extraosseous Ewings sarcoma-primitive neuroepithelial tumour DOID:4985 DOID MONDO:0021048 benign mastocytoma oio:hasExactSynonym benign mastocytoma DOID:4658 benign mastocytoma confirmed benign mastocytoma DOID:4658 DOID MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma DOID:0080639 bone sarcoma confirmed bone sarcoma DOID:0080639 DOID -MONDO:0021054 bone sarcoma oio:hasExactSynonym skeletal sarcoma skeletal sarcoma Skeletal sarcoma DOID:3347 osteosarcoma confirmed skeletal sarcoma DOID:3347 DOID MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis confirmed Familial Adenomatous Polyposis DOID:0050424 DOID MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis confirmed adenomatous polyposis of the colon DOID:0050424 DOID MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis confirmed familial adenomatous polyposis DOID:0050424 DOID MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 DOID:0080409 familial adenomatous polyposis 1 confirmed familial adenomatous polyposis 1 DOID:0080409 DOID MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy DOID:0080690 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed RASopathy DOID:0080690 DOID -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis confirmed acoustic neurofibromatosis DOID:0111252 DOID -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis central neurofibromatosis DOID:0111252 vestibular schwannomatosis confirmed central Neurofibromatosis DOID:0111252 DOID -MONDO:0021061 neurofibromatosis oio:hasExactSynonym Recklinghausen's neurofibromatosis DOID:0111253 neurofibromatosis 1 confirmed Recklinghausen's neurofibromatosis DOID:0111253 DOID -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis DOID:0111253 neurofibromatosis 1 confirmed peripheral Neurofibromatosis DOID:0111253 DOID MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis DOID:8712 neurofibromatosis confirmed neurofibromatosis DOID:8712 DOID MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer DOID:219 colon cancer confirmed colon cancer DOID:219 DOID MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor DOID:170 endocrine gland cancer confirmed Endocrine tumor DOID:170 DOID @@ -25852,7 +25638,6 @@ MONDO:0021167 myositis disease oio:hasExactSynonym inflammatory disorder of mus MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid haemangioma DOID:474 histiocytoid hemangioma confirmed epithelioid haemangioma DOID:474 DOID MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma DOID:474 histiocytoid hemangioma confirmed epithelioid hemangioma DOID:474 DOID MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma DOID:474 histiocytoid hemangioma confirmed histiocytoid hemangioma DOID:474 DOID -MONDO:0021259 prostate neoplasm oio:hasExactSynonym tumor of the prostate DOID:10283 prostate cancer confirmed tumor of the prostate DOID:10283 DOID MONDO:0021439 benign neoplasm of pituitary gland oio:hasExactSynonym pituitary gland benign neoplasm DOID:60009 pituitary gland benign neoplasm confirmed pituitary gland benign neoplasm DOID:60009 DOID MONDO:0021441 benign neoplasm of exocrine pancreas oio:hasExactSynonym benign exocrine pancreas neoplasm DOID:0080781 benign exocrine pancreas neoplasm confirmed benign exocrine pancreas neoplasm DOID:0080781 DOID MONDO:0021443 benign neoplasm of lymph node oio:hasExactSynonym lymph node benign neoplasm DOID:0080617 lymph node benign neoplasm confirmed lymph node benign neoplasm DOID:0080617 DOID @@ -25898,7 +25683,6 @@ MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasE MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type oio:hasExactSynonym DSPD DOID:0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DSPD DOID:0111141 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024432 nerve plexus disorder oio:hasExactSynonym plexopathy DOID:3688 plexopathy confirmed plexopathy DOID:3688 DOID MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym DRS1 DOID:0060766 autosomal dominant Robinow syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DRS1 DOID:0060766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym iridogoniodysgenesis type 1 DOID:0050786 iridogoniodysgenesis syndrome confirmed iridogoniodysgenesis type 1 DOID:0050786 DOID MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym anterior segment dysgenesis 3 DOID:0080608 anterior segment dysgenesis 3 confirmed anterior segment dysgenesis 3 DOID:0080608 DOID MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy 1 infantile neuroaxonal dystrophy 1 Infantile Neuroaxonal Dystrophy 1 DOID:0110735 neurodegeneration with brain iron accumulation 2a confirmed infantile neuroaxonal dystrophy 1 DOID:0110735 DOID MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation 2a DOID:0110735 neurodegeneration with brain iron accumulation 2a confirmed neurodegeneration with brain iron accumulation 2A DOID:0110735 DOID @@ -25907,13 +25691,11 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated Neurodegeneration, Pla2g6-Associated DOID:0110735 neurodegeneration with brain iron accumulation 2a confirmed neurodegeneration, Pla2g6-associated DOID:0110735 DOID MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2a NBIA2A NBIA2a DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBIA2a DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 DOID:0080493 ovarian dysgenesis 1 confirmed ovarian dysgenesis 1 DOID:0080493 DOID -MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever confirmed South African tick-bite fever DOID:0050035 DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym African tick typhus DOID:14095 boutonneuse fever confirmed African tick typhus DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym Kenya tick typhus Kenya tick typhus kenya tick typhus DOID:14095 boutonneuse fever confirmed Kenya tick typhus DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym South African tick-bite fever DOID:14095 boutonneuse fever confirmed South African tick-bite fever DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym boutonneuse fever DOID:14095 boutonneuse fever confirmed boutonneuse fever DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym marseilles fever DOID:14095 boutonneuse fever confirmed marseilles fever DOID:14095 DOID -MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym neoplasm of liver DOID:3571 liver cancer confirmed neoplasm of liver DOID:3571 DOID MONDO:0024477 liver and intrahepatic bile duct neoplasm oio:hasExactSynonym epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 liver benign neoplasm confirmed epithelial hepatic and intrahepatic bile duct neoplasm DOID:916 DOID MONDO:0024507 aniridia 1 oio:hasExactSynonym aniridia 1 DOID:0070532 aniridia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed aniridia 1 DOID:0070532 DOID MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym schwannomatosis 1 DOID:0070480 schwannomatosis 1 confirmed schwannomatosis 1 DOID:0070480 DOID @@ -25925,7 +25707,6 @@ MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Via MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brown-Vialetto-van Laere syndrome 1 DOID:0080785 DOID MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym TRICHOHEPATOENTERIC syndrome 1 TRICHOHEPATOENTERIC syndrome 1 trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 confirmed TRICHOHEPATOENTERIC syndrome 1 DOID:0111415 DOID MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym trichohepatoenteric syndrome 1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed trichohepatoenteric syndrome 1 DOID:0111415 DOID -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasRelatedSynonym dysequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome confirmed dysequilibrium syndrome DOID:0050997 DOID MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym inflammatory peeling skin syndrome DOID:0070520 peeling skin syndrome 1 confirmed inflammatory peeling skin syndrome DOID:0070520 DOID MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome 1 DOID:0070520 peeling skin syndrome 1 confirmed peeling skin syndrome 1 DOID:0070520 DOID MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym peeling skin syndrome type B DOID:0070520 peeling skin syndrome 1 confirmed peeling skin syndrome type B DOID:0070520 DOID @@ -25942,13 +25723,11 @@ MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulva squamous MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar epidermoid carcinoma vulvar epidermoid carcinoma Vulvar Epidermoid carcinoma DOID:2101 vulva squamous cell carcinoma confirmed vulvar epidermoid carcinoma DOID:2101 DOID MONDO:0024609 vulvar squamous cell carcinoma oio:hasExactSynonym vulvar squamous cell carcinoma DOID:2101 vulva squamous cell carcinoma confirmed vulvar squamous cell carcinoma DOID:2101 DOID MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma confirmed thyroid gland adenocarcinoma DOID:0080524 DOID -MONDO:0024622 thyroid gland adenocarcinoma oio:hasExactSynonym thyroid adenocarcinoma thyroid adenocarcinoma Thyroid adenocarcinoma DOID:3962 follicular thyroid carcinoma confirmed thyroid adenocarcinoma DOID:3962 DOID MONDO:0024647 urolithiasis oio:hasExactSynonym urolithiasis DOID:0080653 urolithiasis confirmed urolithiasis DOID:0080653 DOID MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym insulinoma DOID:3892 insulinoma confirmed insulinoma DOID:3892 DOID MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse giant cell tumor of Tenosynovium diffuse giant cell tumor of Tenosynovium Diffuse Giant cell tumor of Tenosynovium DOID:2702 pigmented villonodular synovitis confirmed diffuse giant cell tumor of Tenosynovium DOID:2702 DOID MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis DOID:2702 pigmented villonodular synovitis confirmed pigmented villonodular synovitis DOID:2702 DOID MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym villous tenosynovitis DOID:2702 pigmented villonodular synovitis confirmed villous tenosynovitis DOID:2702 DOID -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor confirmed Tenosynovial Giant Cell Tumor DOID:314 DOID MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type oio:hasExactSynonym MRXSP DOID:0070422 syndromic X-linked intellectual disability Pilorge type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MRXSP DOID:0070422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024773 spermatogenic failure, X-linked, 4 oio:hasExactSynonym SPGFX4 DOID:0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGFX4 DOID:0070595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024889 benign mesonephroma oio:hasExactSynonym Mesonephroma, benign DOID:2616 Wolffian duct adenoma confirmed Mesonephroma, benign DOID:2616 DOID @@ -26075,8 +25854,8 @@ MONDO:0030515 spermatogenic failure 63 oio:hasExactSynonym SPGF63 DOID:011235 MONDO:0030522 spermatogenic failure 64 oio:hasExactSynonym SPGF64 DOID:0112353 spermatogenic failure 64 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF64 DOID:0112353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0030531 spermatogenic failure 65 oio:hasExactSynonym SPGF65 DOID:0112354 spermatogenic failure 65 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF65 DOID:0112354 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0030543 combined oxidative phosphorylation deficiency 54 oio:hasExactSynonym COXPD54 DOID:0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD54 DOID:0070427 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia confirmed pneumonia due to Klebsiella pneumoniae DOID:13272 DOID MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae pneumonia due to klebsiella pneumoniae DOID:13272 Klebsiella pneumonia confirmed pneumonia due to Klebsiella pneumoniae DOID:13272 DOID +MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae DOID:13272 Klebsiella pneumonia confirmed pneumonia due to Klebsiella pneumoniae DOID:13272 DOID MONDO:0030602 Klebsiella pneumonia oio:hasExactSynonym pneumonia due to Klebsiella pneumoniae (disorder) pneumonia due to Klebsiella pneumoniae (disorder) Pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 Klebsiella pneumonia confirmed pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272 DOID MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma DOID:7571 malignant cystic nephroma confirmed malignant cystic nephroma DOID:7571 DOID MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma DOID:7571 malignant cystic nephroma confirmed malignant multilocular cystic nephroma DOID:7571 DOID @@ -26313,7 +26092,6 @@ MONDO:0033671 spermatogenic failure 45 oio:hasExactSynonym SPGF45 DOID:011216 MONDO:0033673 spermatogenic failure 46 oio:hasExactSynonym SPGF46 DOID:0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF46 DOID:0112164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym developmental and epileptic encephalopathy 73 DOID:0112209 developmental and epileptic encephalopathy 73 confirmed developmental and epileptic encephalopathy 73 DOID:0112209 DOID MONDO:0034106 developmental and epileptic encephalopathy, 73 oio:hasExactSynonym DEE73 DOID:0112209 developmental and epileptic encephalopathy 73 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DEE73 DOID:0112209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0035153 male infertility due to acephalic spermatozoa oio:hasExactSynonym Acephalic spermatozoa syndrome Acephalic spermatozoa syndrome acephalic spermatozoa syndrome DOID:0070184 spermatogenic failure 16 confirmed Acephalic spermatozoa syndrome DOID:0070184 DOID MONDO:0036482 retinitis pigmentosa 81 oio:hasExactSynonym retinitis pigmentosa 81 DOID:0080292 retinitis pigmentosa 81 confirmed retinitis pigmentosa 81 DOID:0080292 DOID MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly oio:hasExactSynonym short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly confirmed short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 DOID MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 confirmed glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 DOID @@ -26436,10 +26214,8 @@ MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym ea MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym early infantile epileptic encephalopathy with burst-suppression early infantile epileptic encephalopathy with burst-suppression Early Infantile Epileptic Encephalopathy with Burst-Suppression DOID:0050709 early infantile epileptic encephalopathy confirmed early infantile epileptic encephalopathy with burst-suppression DOID:0050709 DOID MONDO:0100062 developmental and epileptic encephalopathy oio:hasExactSynonym developmental and epileptic encephalopathy DOID:0112202 developmental and epileptic encephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed developmental and epileptic encephalopathy DOID:0112202 DOID MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym LEOPARD syndrome 1 DOID:0080548 Noonan syndrome with multiple lentigines 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed LEOPARD syndrome 1 DOID:0080548 DOID -MONDO:0100082 LEOPARD syndrome 1 oio:hasExactSynonym multiple lentigines syndrome multiple lentigines syndrome Multiple lentigines syndrome DOID:14291 Noonan syndrome with multiple lentigines confirmed multiple lentigines syndrome DOID:14291 DOID MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures oio:hasExactSynonym CONDSIAS DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CONDSIAS DOID:0070352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100096 COVID-19 oio:hasExactSynonym 2019-nCoV infection DOID:0080600 COVID-19 confirmed 2019-nCoV infection DOID:0080600 DOID -MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym Pena-Shokeir syndrome type 1 DOID:0111375 fetal akinesia deformation sequence syndrome confirmed Pena-Shokeir syndrome type 1 DOID:0111375 DOID MONDO:0100101 fetal akinesia deformation sequence 1 oio:hasExactSynonym FADS1 DOID:0111377 fetal akinesia deformation sequence syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FADS1 DOID:0111377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100102 fetal akinesia deformation sequence 2 oio:hasExactSynonym FADS2 DOID:0111378 fetal akinesia deformation sequence syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FADS2 DOID:0111378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100103 fetal akinesia deformation sequence 3 oio:hasExactSynonym FADS3 DOID:0111376 fetal akinesia deformation sequence syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FADS3 DOID:0111376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -26539,7 +26315,6 @@ MONDO:0100349 COACH syndrome oio:hasExactSynonym gentile syndrome gentile syndr MONDO:0100349 COACH syndrome oio:hasExactSynonym JS-H DOID:0111589 COACH syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JS-H DOID:0111589 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal HMN V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 confirmed distal HMN V DOID:0111203 DOID MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal hereditary motor neuropathy type V DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 confirmed distal hereditary motor neuropathy type V DOID:0111203 DOID -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym distal spinal muscular atrophy type 5 DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 confirmed distal spinal muscular atrophy type 5 DOID:0111214 DOID MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym episodic kinesigenic dyskinesia 1 DOID:0090053 episodic kinesigenic dyskinesia 1 confirmed episodic kinesigenic dyskinesia 1 DOID:0090053 DOID MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym Berdon syndrome DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome confirmed Berdon syndrome DOID:0060610 DOID MONDO:0100428 progressive bulbar palsy of childhood oio:hasExactSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease confirmed Fazio-Londe disease DOID:0080632 DOID @@ -26581,7 +26356,6 @@ MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExa MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome oio:hasExactSynonym DTDS DOID:0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DTDS DOID:0070487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0700200 atypical dopamine transporter deficiency syndrome oio:hasExactSynonym atypical DTDS DOID:0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed atypical DTDS DOID:0070488 DOID MONDO:0700226 food allergy oio:hasExactSynonym food hypersensitivity DOID:3044 food allergy confirmed food hypersensitivity DOID:3044 DOID -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym Brachycephalofrontonasal dysplasia DOID:0081073 Teebi hypertelorism syndrome confirmed Brachycephalofrontonasal dysplasia DOID:0081073 DOID MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine curse DOID:0060731 congenital central hypoventilation syndrome confirmed Ondine curse DOID:0060731 DOID MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome confirmed Ondine syndrome DOID:0060731 DOID MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym central congenital hypoventilation syndrome DOID:0060731 congenital central hypoventilation syndrome confirmed central congenital hypoventilation syndrome DOID:0060731 DOID @@ -26590,8 +26364,6 @@ MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without H MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym CCHS DOID:0060731 congenital central hypoventilation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CCHS DOID:0060731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia confirmed Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia DOID:0080523 DOID MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia confirmed adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 DOID -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis DOID:0060941 interstitial lung disease 1 confirmed Idiopathic Pulmonary Fibrosis DOID:0060941 DOID -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym hyperkeratosis-contracture syndrome DOID:0060762 restrictive dermopathy confirmed hyperkeratosis-contracture syndrome DOID:0060762 DOID MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of deglycosylation 1 DOID:0060728 congenital disorder of deglycosylation 1 confirmed congenital disorder of deglycosylation 1 DOID:0060728 DOID MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym congenital disorder of glycosylation type IV congenital disorder of glycosylation type IV congenital disorder of glycosylation type Iv DOID:0060728 congenital disorder of deglycosylation 1 confirmed congenital disorder of glycosylation type IV DOID:0060728 DOID MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym deficiency of N-glycanase 1 DOID:0060728 congenital disorder of deglycosylation 1 confirmed deficiency of N-glycanase 1 DOID:0060728 DOID @@ -26599,13 +26371,11 @@ MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym NGLY1-CDDG DOID:0060728 congenital disorder of deglycosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NGLY1-CDDG DOID:0060728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant oio:hasExactSynonym MACTHC1 DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MACTHC1 DOID:0090102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 oio:hasExactSynonym DKCA4 DOID:0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DKCA4 DOID:0070020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym cerebrofaciothoracic dysplasia cerebrofaciothoracic dysplasia Cerebrofaciothoracic dysplasia DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cerebrofaciothoracic dysplasia DOID:0081072 DOID MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 DOID:0070477 diphthamide deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DEDSSH1 DOID:0070477 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym childhood ataxia with central nervous system hypomyelination DOID:0060868 leukoencephalopathy with vanishing white matter confirmed childhood ataxia with central nervous system hypomyelination DOID:0060868 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed leukoencephalopathy with vanishing white matter DOID:0060868 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym CACH DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CACH DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter confirmed ovarioleukodystrophy DOID:0060868 DOID -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasRelatedSynonym ovarioleukodystrophy DOID:0070396 progressive leukoencephalopathy with ovarian failure confirmed ovarioleukodystrophy DOID:0070396 DOID MONDO:0800449 lysosomal acid lipase deficiency oio:hasExactSynonym LAL deficiency DOID:0080217 lysosomal acid lipase deficiency confirmed LAL deficiency DOID:0080217 DOID MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 congenital amegakaryocytic thrombocytopenia confirmed congenital amegakaryocytic thrombocytopenic purpura DOID:0090118 DOID MONDO:0850302 intracranial meningioma oio:hasExactSynonym brain meningioma DOID:0060106 brain meningioma confirmed brain meningioma DOID:0060106 DOID @@ -26627,7 +26397,6 @@ MONDO:0000050 isolated congenital growth hormone deficiency oio:hasExactSynonym MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICF syndrome DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 updated ICF syndrome DOID:0090007 DOID MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Rickettsia africae spotted fever DOID:0050035 African tick-bite fever DOID:0050035 updated Rickettsia africae spotted fever DOID:0050035 DOID MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever South African tick-bite fever south african tick-bite fever DOID:0050035 African tick-bite fever DOID:0050035 updated South African tick-bite fever DOID:0050035 DOID -MONDO:0000227 African tick-bite fever oio:hasExactSynonym oio:hasRelatedSynonym South African tick-bite fever DOID:14095 boutonneuse fever DOID:0050035 updated South African tick-bite fever DOID:14095 DOID MONDO:0000233 Japanese spotted fever oio:hasExactSynonym oio:hasRelatedSynonym oriental spotted fever DOID:0050050 Japanese spotted fever DOID:0050050 updated oriental spotted fever DOID:0050050 DOID MONDO:0000234 Rickettsia parkeri spotted fever oio:hasExactSynonym oio:hasRelatedSynonym maculatum infection DOID:0050051 Rickettsia parkeri spotted fever DOID:0050051 updated maculatum infection DOID:0050051 DOID MONDO:0000261 adenoiditis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenoiditis DOID:0050145 adenoiditis DOID:0050145 updated chronic adenoiditis DOID:0050145 DOID @@ -26637,9 +26406,6 @@ MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus ty MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 updated Acanthamoeba encephalitis DOID:0050246 DOID MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Acanthamoeba granulomatous encephalitis DOID:0050246 granulomatous amebic encephalitis DOID:0050246 updated Acanthamoeba granulomatous encephalitis DOID:0050246 DOID MONDO:0000291 granulomatous amebic encephalitis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous amebic encephalitis due to Acanthamoeba granulomatous amebic encephalitis due to Acanthamoeba Granulomatous Amebic Encephalitis due to Acanthamoeba DOID:0050246 granulomatous amebic encephalitis DOID:0050246 updated granulomatous amebic encephalitis due to Acanthamoeba DOID:0050246 DOID -MONDO:0000315 commensal bacterial infectious disease oio:hasExactSynonym oio:hasRelatedSynonym opportunistic bacterial infectious disease DOID:0050340 opportunistic bacterial infectious disease updated opportunistic bacterial infectious disease DOID:0050340 DOID -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym murine typhus murine typhus Murine typhus DOID:11256 typhus DOID:0050481, Wikipedia:Murine_typhus updated murine typhus DOID:11256 DOID -MONDO:0000330 endemic typhus oio:hasRelatedSynonym oio:hasExactSynonym urban typhus urban typhus Urban typhus DOID:11256 typhus DOID:0050481 updated urban typhus DOID:11256 DOID MONDO:0000332 sennetsu fever oio:hasExactSynonym oio:hasRelatedSynonym sennetsu ehrlichiosis sennetsu ehrlichiosis Sennetsu ehrlichiosis DOID:0050485 sennetsu fever Wikipedia:Neorickettsia_sennetsu, DOID:0050485 updated sennetsu ehrlichiosis DOID:0050485 DOID MONDO:0000338 variola major infectious disease oio:hasExactSynonym oio:hasBroadSynonym variola major DOID:0050508 variola major updated variola major DOID:0050508 DOID MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ updated Ullrich disease DOID:0050558 DOID @@ -26660,12 +26426,8 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym intermediate cell small cell carcinoma DOID:0050685 small cell carcinoma DOID:0050685 updated intermediate cell small cell carcinoma DOID:0050685 DOID MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma - intermediate cell small cell carcinoma - intermediate cell Small cell carcinoma - intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 updated small cell carcinoma - intermediate cell DOID:0050685 DOID MONDO:0000402 small cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma, intermediate cell small cell carcinoma, intermediate cell Small cell carcinoma, intermediate cell DOID:0050685 small cell carcinoma DOID:0050685 updated small cell carcinoma, intermediate cell DOID:0050685 DOID -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome DOID:0050665 fetal alcohol syndrome MESH:D063647 updated fetal alcohol syndrome DOID:0050665 DOID -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym partial fetal alcohol syndrome DOID:0050666 partial fetal alcohol syndrome MESH:D063647 updated partial fetal alcohol syndrome DOID:0050666 DOID -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects MESH:D063647 updated alcohol-related birth defects DOID:0050668 DOID MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym NK-T cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 updated NK-T cell lymphoma DOID:0050743 DOID MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym mature T-cell and natural killer cell lymphoma DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 updated mature T-cell and natural killer cell lymphoma DOID:0050743 DOID -MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia updated spinocerebellar ataxia DOID:1441 DOID MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 updated congenital cystic liver disease DOID:0050770 DOID MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym congenital hepatic cyst DOID:0050770 polycystic liver disease DOID:0050770 updated congenital hepatic cyst DOID:0050770 DOID MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym oio:hasRelatedSynonym fibrocystic liver disease DOID:0050770 polycystic liver disease DOID:0050770 updated fibrocystic liver disease DOID:0050770 DOID @@ -26684,16 +26446,12 @@ MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0000471 tricuspid valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic tricuspid valve disease DOID:0050826 tricuspid valve disease DOID:0050826 updated rheumatic tricuspid valve disease DOID:0050826 DOID MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym familial dystonia DOID:0050835 generalized dystonia DOID:0050835 updated familial dystonia DOID:0050835 DOID MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym fragments of torsion dystonia DOID:0050835 generalized dystonia DOID:0050835 updated fragments of torsion dystonia DOID:0050835 DOID -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans DOID:0060730 torsion dystonia 1 DOID:0050835 updated dystonia musculorum deformans DOID:0060730 DOID -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 DOID:0090056 dystonia 12 DOID:0050835 updated dystonia 12 DOID:0090056 DOID MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis DOID:0050840 cervical dystonia DOID:0050840 updated spasmodic torticollis DOID:0050840 DOID MONDO:0000482 focal hand dystonia oio:hasExactSynonym oio:hasRelatedSynonym organic writer's cramp DOID:0050841 focal hand dystonia DOID:0050841 updated organic writer's cramp DOID:0050841 DOID MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym bronchioalveolar carcinoma DOID:0050870 pulmonary adenocarcinoma in situ DOID:0050870 updated bronchioalveolar carcinoma DOID:0050870 DOID -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar carcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma NCIT:C136486 updated bronchioloalveolar carcinoma DOID:4926 DOID MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym alpha synucleinopathies alpha synucleinopathies alpha Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 updated alpha synucleinopathies DOID:0050890 DOID MONDO:0000510 synucleinopathy oio:hasExactSynonym oio:hasRelatedSynonym synucleinopathies synucleinopathies Synucleinopathies DOID:0050890 synucleinopathy DOID:0050890 updated synucleinopathies DOID:0050890 DOID MONDO:0000520 parietal lobe ependymal tumor oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe ependymoma DOID:0050903 parietal lobe ependymoma DOID:0050903 updated parietal lobe ependymoma DOID:0050903 DOID -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer DOID:8850 salivary gland cancer NCIT:C9272 updated salivary gland cancer DOID:8850 DOID MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym caecum adenoma DOID:0050910 cecum adenoma DOID:0050910 updated caecum adenoma DOID:0050910 DOID MONDO:0000525 cecum villous adenoma oio:hasExactSynonym oio:hasBroadSynonym cecum adenoma DOID:0050910 cecum adenoma DOID:0050910 updated cecum adenoma DOID:0050910 DOID MONDO:0000540 small intestinal neuroendocrine tumor G1 oio:hasExactSynonym oio:hasRelatedSynonym small intestine carcinoid neuroendocrine tumor DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 updated small intestine carcinoid neuroendocrine tumor DOID:0050925 DOID @@ -26727,21 +26485,14 @@ MONDO:0000762 syndrome caused by partial chromosomal duplication oio:hasExactSyn MONDO:0000763 epithelial and subepithelial corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym epithelial and subepithelial dystrophy DOID:0060440 epithelial and subepithelial dystrophy DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf updated epithelial and subepithelial dystrophy DOID:0060440 DOID MONDO:0000766 corneal endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy DOID:0060443 corneal endothelial dystrophy DOID:0060443 updated endothelial dystrophy DOID:0060443 DOID MONDO:0000812 vertebral column disorder oio:hasExactSynonym oio:hasRelatedSynonym spinal disease DOID:0060564 spinal disease DOID:0060564 updated spinal disease DOID:0060564 DOID -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9143 updated B acute lymphoblastic leukemia DOID:0080638 DOID -MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X DOID:14221 abdominal obesity-metabolic syndrome 1 NCIT:C84442 updated metabolic syndrome X DOID:14221 DOID MONDO:0000820 cerebral cavernous malformation oio:hasExactSynonym oio:hasRelatedSynonym familial cavernous angioma DOID:0060669 cerebral cavernous malformation DOID:0060669 updated familial cavernous angioma DOID:0060669 DOID MONDO:0000828 juvenile-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym juvenile-onset Parkinson's disease DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 updated juvenile-onset Parkinson's disease DOID:0060893 DOID MONDO:0000836 disease of bone structure oio:hasExactSynonym oio:hasRelatedSynonym bone structure disease DOID:0080010 bone structure disease DOID:0080010 updated bone structure disease DOID:0080010 DOID -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia DOID:5603 T-cell acute lymphoblastic leukemia NCIT:C7953 updated T acute lymphoblastic leukemia DOID:5603 DOID -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C9140 updated B acute lymphoblastic leukemia DOID:0080638 DOID -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia DOID:8864 acute monocytic leukemia NCIT:C8263 updated acute monocytic leukemia DOID:8864 DOID -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukaemia DOID:8864 acute monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 updated acute monocytic leukaemia DOID:8864 DOID MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis DOID:0080178 mucositis DOID:0080178 updated mucositis DOID:0080178 DOID MONDO:0000892 colon medullary carcinoma oio:hasExactSynonym oio:hasRelatedSynonym medullary colon carcinoma DOID:0080183 medullary colon carcinoma DOID:0080183 updated medullary colon carcinoma DOID:0080183 DOID MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 DOID:0110507 updated autosomal recessive deafness 5 DOID:0110507 DOID MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 OMIM:600792 updated autosomal recessive nonsyndromic deafness 5 DOID:0110507 DOID MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 updated DFNB5 DOID:0110507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasBroadSynonym cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 CADASIL Orphanet:136, DOID:13945 updated cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy DOID:13945 DOID MONDO:0000945 venous insufficiency oio:hasExactSynonym oio:hasNarrowSynonym peripheral venous insufficiency DOID:10128 venous insufficiency DOID:10128 updated peripheral venous insufficiency DOID:10128 DOID MONDO:0000952 cancer of long bone of lower limb oio:hasExactSynonym oio:hasRelatedSynonym long bones of lower limb cancer DOID:10149 long bones of lower limb cancer DOID:10149 updated long bones of lower limb cancer DOID:10149 DOID MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis and retinochoroiditis Juxtapapillary focal retinitis AND retinochoroiditis DOID:10176 neuroretinitis DOID:10176 updated Juxtapapillary focal retinitis and retinochoroiditis DOID:10176 DOID @@ -26750,8 +26501,6 @@ MONDO:0000958 neuroretinitis oio:hasExactSynonym oio:hasNarrowSynonym papilloret MONDO:0000964 skin lipoma oio:hasExactSynonym oio:hasNarrowSynonym lipoma of face DOID:10188 skin lipoma DOID:10188 updated lipoma of face DOID:10188 DOID MONDO:0000990 acute subendocardial myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym subendocardial infarction acute myocardial infarction DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 updated subendocardial infarction acute myocardial infarction DOID:10266 DOID MONDO:0000994 malignant prostate phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym prostate malignant phyllodes tumor DOID:10289 prostate malignant phyllodes tumor DOID:10289 updated prostate malignant phyllodes tumor DOID:10289 DOID -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL DOID:1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 updated CLL DOID:1040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML DOID:8552 chronic myeloid leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 updated CML DOID:8552 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0001017 epididymal adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma DOID:10368, NCIT:C39957 updated adenocarcinoma of the epididymis DOID:10368 DOID MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye DOID:10376 amblyopia NCIT:C118764 updated lazy eye DOID:10376 DOID MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague DOID:10398 pneumonic plague DOID:10398 updated primary pneumonic plague DOID:10398 DOID @@ -26768,7 +26517,6 @@ MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph no MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 updated adult Fanconi syndrome DOID:1062 DOID MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym congenital Fanconi syndrome congenital Fanconi syndrome Congenital Fanconi syndrome DOID:1062 Fanconi syndrome DOID:1062 updated congenital Fanconi syndrome DOID:1062 DOID MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile nephropathic cystinosis infantile nephropathic cystinosis Infantile nephropathic cystinosis DOID:1062 Fanconi syndrome DOID:1062 updated infantile nephropathic cystinosis DOID:1062 DOID -MONDO:0001105 renal hypertension oio:hasExactSynonym oio:hasNarrowSynonym renovascular hypertension DOID:1591 renovascular hypertension Wikipedia:Renovascular_hypertension updated renovascular hypertension DOID:1591 DOID MONDO:0001115 familial polycythemia oio:hasExactSynonym oio:hasNarrowSynonym primary polycythemia DOID:10780 primary polycythemia DOID:10780 updated primary polycythemia DOID:10780 DOID MONDO:0001118 Queensland tick typhus oio:hasExactSynonym oio:hasRelatedSynonym Australian tick typhus DOID:10784 Queensland tick typhus DOID:10784 updated Australian tick typhus DOID:10784 DOID MONDO:0001126 gastric ulcer oio:hasExactSynonym oio:hasNarrowSynonym acute gastric ulcer with hemorrhage and obstruction DOID:10808 gastric ulcer DOID:10808 updated acute gastric ulcer with hemorrhage and obstruction DOID:10808 DOID @@ -26799,8 +26547,6 @@ MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleedi MONDO:0001221 esophageal varices oio:hasExactSynonym oio:hasNarrowSynonym bleeding oesophageal varices bleeding oesophageal varices Bleeding oesophageal varices DOID:112 esophageal varix DOID:112 updated bleeding oesophageal varices DOID:112 DOID MONDO:0001222 congenital T-cell immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym T cell deficiency DOID:11200 T cell deficiency DOID:11200 updated T cell deficiency DOID:11200 DOID MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym plethora of newborn DOID:11242 plethora of newborn DOID:11242 updated plethora of newborn DOID:11242 DOID -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus DOID:0050481 endemic typhus DOID:11256 updated Urban typhus DOID:0050481 DOID -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus DOID:0050481 endemic typhus DOID:11256 updated murine typhus DOID:0050481 DOID MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Moscow typhus DOID:11256 typhus DOID:11256 updated Moscow typhus DOID:11256 DOID MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic flea-borne typhus DOID:11256 typhus DOID:11256 updated endemic flea-borne typhus DOID:11256 DOID MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever endemic typhus fever Endemic Typhus fever DOID:11256 typhus DOID:11256 updated endemic typhus fever DOID:11256 DOID @@ -26811,11 +26557,8 @@ MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym louse-borne [epide MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym murine [endemic] typhus murine [endemic] typhus Murine [endemic] typhus DOID:11256 typhus ICD9CM:081.0, DOID:11256 updated murine [endemic] typhus DOID:11256 DOID MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation DOID:11294 arteriovenous malformation DOID:11294 updated arteriovenous malformation DOID:11294 DOID MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym cirsoid aneurysm cirsoid aneurysm Cirsoid aneurysm DOID:11294 arteriovenous malformation DOID:11294 updated cirsoid aneurysm DOID:11294 DOID -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis posterior uveitis DOID:12574 posterior uveitis NORD:1601 updated Posterior Uveitis DOID:12574 DOID -MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis DOID:12574 posterior uveitis MONDO:ambiguous, NCIT:C35111 updated posterior uveitis DOID:12574 DOID MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial tumor DOID:116 pericardium cancer NCIT:C4651, DOID:116 updated pericardial tumor DOID:116 DOID MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm DOID:11615 penile cancer DOID:11615 updated penile neoplasm DOID:11615 DOID -MONDO:0001328 thyroid hormone resistance syndrome oio:hasExactSynonym oio:hasRelatedSynonym TSH resistance DOID:0070126 congenital nongoitrous hypothyroidism 1 updated TSH resistance DOID:0070126 DOID MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasRelatedSynonym familial hyperlipoproteinemia DOID:1168 familial hyperlipidemia DOID:1168 updated familial hyperlipoproteinemia DOID:1168 DOID MONDO:0001336 familial hyperlipidemia oio:hasExactSynonym oio:hasBroadSynonym hyperlipemia DOID:1168 familial hyperlipidemia DOID:1168 updated hyperlipemia DOID:1168 DOID MONDO:0001336 familial hyperlipidemia oio:hasRelatedSynonym oio:hasBroadSynonym hyperlipidaemia DOID:1168 familial hyperlipidemia DOID:1168 updated hyperlipidaemia DOID:1168 DOID @@ -26830,7 +26573,6 @@ MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tum MONDO:0001405 dermatophytosis of groin and perianal area oio:hasExactSynonym oio:hasRelatedSynonym tinea cruris DOID:11917 tinea cruris DOID:11917 updated tinea cruris DOID:11917 DOID MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm DOID:1192 peripheral nervous system neoplasm DOID:1192 updated nerve sheath neoplasm DOID:1192 DOID MONDO:0001409 esophagitis oio:hasExactSynonym oio:hasNarrowSynonym acute esophagitis DOID:11963 esophagitis DOID:11963 updated acute esophagitis DOID:11963 DOID -MONDO:0001414 osteopoikilosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata DOID:0111536 Buschke-Ollendorff syndrome GARD:0004158 updated osteopathia condensans disseminata DOID:0111536 DOID MONDO:0001421 frontal lobe neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of frontal lobe DOID:12016 frontal lobe neoplasm DOID:12016 updated malignant neoplasm of frontal lobe DOID:12016 DOID MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving forearm transient arthropathy involving forearm Transient arthropathy involving forearm DOID:12084 transient arthropathy DOID:12084 updated transient arthropathy involving forearm DOID:12084 DOID MONDO:0001429 transient arthropathy oio:hasExactSynonym oio:hasNarrowSynonym transient arthropathy involving hand transient arthropathy involving hand Transient arthropathy involving hand DOID:12084 transient arthropathy DOID:12084 updated transient arthropathy involving hand DOID:12084 DOID @@ -26845,9 +26587,7 @@ MONDO:0001434 inflammatory spondylopathy oio:hasExactSynonym oio:hasNarrowSynony MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis lymphocytic meningitis Lymphocytic meningitis DOID:12155 lymphocytic choriomeningitis DOID:12155 updated lymphocytic meningitis DOID:12155 DOID MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym coloboma of macula DOID:12270 coloboma DOID:12270 updated coloboma of macula DOID:12270 DOID MONDO:0001476 coloboma oio:hasExactSynonym oio:hasNarrowSynonym congenital ocular coloboma DOID:12270 coloboma DOID:12270 updated congenital ocular coloboma DOID:12270 DOID -MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale DOID:8515 Cor pulmonale NCIT:C34478 updated Cor pulmonale DOID:8515 DOID MONDO:0001502 retroperitoneum carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma DOID:12342, NCIT:C7352 updated carcinoma of the retroperitoneum DOID:12342 DOID -MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer DOID:5875 retroperitoneal cancer NCIT:C7352 updated retroperitoneal cancer DOID:5875 DOID MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva DOID:1245 vulva cancer DOID:1245 updated neoplasm of vulva DOID:1245 DOID MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym vulval neoplasm DOID:1245 vulva cancer DOID:1245 updated vulval neoplasm DOID:1245 DOID MONDO:0001564 binocular vision disease oio:hasExactSynonym oio:hasNarrowSynonym simultaneous visual perception without fusion DOID:12667 binocular vision disease DOID:12667 updated simultaneous visual perception without fusion DOID:12667 DOID @@ -26855,7 +26595,6 @@ MONDO:0001575 chronic gonococcal salpingitis oio:hasExactSynonym oio:hasBroadSyn MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome DOID:12802 mucopolysaccharidosis I DOID:12802 updated Hurler syndrome DOID:12802 DOID MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I DOID:12802 mucopolysaccharidosis I DOID:12802 updated mucopolysaccharidosis I DOID:12802 DOID MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea DOID:12859 choreatic disease DOID:12859 updated hereditary chorea DOID:12859 DOID -MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer DOID:1243 labia minora cancer NCIT:C9364, DOID:1293 updated labia minora cancer DOID:1243 DOID MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora cancer DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 updated labia minora cancer DOID:1293 DOID MONDO:0001602 labia minora carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of labia minora DOID:1293 labia minora carcinoma NCIT:C9364, DOID:1293 updated carcinoma of labia minora DOID:1293 DOID MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasNarrowSynonym adult brain tumor DOID:1319 brain cancer DOID:1319 updated adult brain tumor DOID:1319 DOID @@ -26883,14 +26622,12 @@ MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynony MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym congenital hypoplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 updated congenital hypoplastic anaemia DOID:1342 DOID MONDO:0001713 inherited aplastic anemia oio:hasRelatedSynonym oio:hasExactSynonym constitutional aplastic anaemia constitutional aplastic anaemia Constitutional aplastic anaemia DOID:1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/OMO_0003005 updated constitutional aplastic anaemia DOID:1342 DOID MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign vaginal carcinosarcoma DOID:135 benign vaginal carcinosarcoma DOID:135 updated benign vaginal carcinosarcoma DOID:135 DOID -MONDO:0001793 excessive tearing oio:hasExactSynonym oio:hasRelatedSynonym lacrimal apparatus disease DOID:1400 lacrimal apparatus disease MESH:D007766 updated lacrimal apparatus disease DOID:1400 DOID MONDO:0001809 adhesions of uterus oio:hasExactSynonym oio:hasRelatedSynonym intrauterine synechiae intrauterine synechiae Intrauterine synechiae DOID:13812 adhesions of uterus ICD9CM:621.5, DOID:13812 updated intrauterine synechiae DOID:13812 DOID MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis DOID:13943 acute gonococcal prostatitis DOID:13943 updated gonococcal prostatitis DOID:13943 DOID MONDO:0001848 Morgagni cataract oio:hasExactSynonym oio:hasBroadSynonym hypermature cataract DOID:13964 Morgagni cataract DOID:13964, ICD9CM:366.18 updated hypermature cataract DOID:13964 DOID MONDO:0001858 Tietze syndrome oio:hasRelatedSynonym oio:hasExactSynonym Tietze syndrome DOID:14021 Tietze's syndrome DOID:14021 updated Tietze syndrome DOID:14021 DOID MONDO:0001870 acute poststreptococcal glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym post-streptococcal glomerulonephritis post-streptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis DOID:14064 acute poststreptococcal glomerulonephritis DOID:14064, NCIT:C35443 updated post-streptococcal glomerulonephritis DOID:14064 DOID MONDO:0001871 acute diffuse glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym acute diffuse nephritis DOID:14066 acute diffuse nephritis DOID:14066 updated acute diffuse nephritis DOID:14066 DOID -MONDO:0001892 spinal cord lymphoma oio:hasExactSynonym oio:hasRelatedSynonym spinal cord cancer DOID:5612 spinal cancer DOID:14150 updated spinal cord cancer DOID:5612 DOID MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease DOID:1417 choroid disease DOID:1417 updated choroid disease DOID:1417 DOID MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG deficiency disease DOID:14176 selective IgG deficiency disease DOID:14176 updated selective IgG deficiency disease DOID:14176 DOID MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency DOID:14176 selective IgG deficiency disease NCIT:C27142, DOID:14176 updated selective IgG immunodeficiency DOID:14176 DOID @@ -26898,34 +26635,24 @@ MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym bli MONDO:0001952 parietal lobe cancer oio:hasExactSynonym oio:hasRelatedSynonym parietal lobe neoplasm DOID:14384 parietal lobe neoplasm DOID:14384 updated parietal lobe neoplasm DOID:14384 DOID MONDO:0001992 rete testis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma DOID:14544, NCIT:C8955 updated adenocarcinoma of rete testis DOID:14544 DOID MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection DOID:3930 otitis interna DOID:3930 updated inner ear infection DOID:3930 DOID -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym FGS DOID:1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002317 updated FGS DOID:1312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome DOID:14711 FG syndrome GARD:0002317, DOID:14711 updated Opitz-Kaveggia syndrome DOID:14711 DOID -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 updated methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 DOID -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria mut type DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:14749 updated methylmalonic aciduria mut type DOID:0060740 DOID -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria cblB type DOID:0060743 methylmalonic acidemia cblB type DOID:14749 updated methylmalonic aciduria cblB type DOID:0060743 DOID MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasNarrowSynonym congenital lymphangioma congenital lymphangioma Congenital lymphangioma DOID:1475 lymphangioma DOID:1475 updated congenital lymphangioma DOID:1475 DOID MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym oio:hasRelatedSynonym Thomas' syndrome DOID:14784 olivopontocerebellar atrophy http://purl.obolibrary.org/obo/mondo#AMBIGUOUS DOID:14784 updated Thomas' syndrome DOID:14784 DOID MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym disease of mental health DOID:150 disease of mental health DOID:150 updated disease of mental health DOID:150 DOID MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated candidiasis DOID:1508 candidiasis DOID:1508, ICD9CM:112.5 updated disseminated candidiasis DOID:1508 DOID MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym systemic candidiasis DOID:1508 candidiasis DOID:1508 updated systemic candidiasis DOID:1508 DOID -MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer DOID:219 colon cancer NCIT:C4910 updated colon cancer DOID:219 DOID MONDO:0002037 pleural disorder oio:hasExactSynonym oio:hasNarrowSynonym non-neoplastic pleural disease DOID:1532 pleural disease DOID:1532 updated non-neoplastic pleural disease DOID:1532 DOID -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer DOID:11934 head and neck cancer NCIT:C35850 updated head and neck cancer DOID:11934 DOID MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the neck DOID:1542 head and neck carcinoma DOID:1542, NCIT:C6077 updated carcinoma of the neck DOID:1542 DOID MONDO:0002038 head and neck carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of neck DOID:1542 head and neck carcinoma MONDO:patterns/carcinoma, DOID:1542 updated carcinoma of neck DOID:1542 DOID -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol dependence DOID:0050741 alcohol dependence MESH:D000437 updated alcohol dependence DOID:0050741 DOID -MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcoholism DOID:0050741 alcohol dependence MESH:D000437 updated alcoholism DOID:0050741 DOID MONDO:0002046 alcohol abuse oio:hasExactSynonym oio:hasRelatedSynonym alcohol use disorder DOID:1574 alcohol use disorder DOID:1574 updated alcohol use disorder DOID:1574 DOID MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasNarrowSynonym auto-immune thrombocytopenia auto-immune thrombocytopenia Auto-immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 updated auto-immune thrombocytopenia DOID:1587 DOID MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia due to platelet alloimmunization DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 updated thrombocytopenia due to platelet alloimmunization DOID:1587 DOID -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia DOID:1595 melancholic depression MESH:D003866 updated melancholia DOID:1595 DOID MONDO:0002050 depressive disorder oio:hasRelatedSynonym oio:hasExactSynonym depression DOID:1596 depressive disorder NCIT:C2982 updated depression DOID:1596 DOID MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute adenitis DOID:1602 lymphadenitis DOID:1602 updated acute adenitis DOID:1602 DOID MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym acute lymphadenitis DOID:1602 lymphadenitis ICD9CM:683, DOID:1602 updated acute lymphadenitis DOID:1602 DOID MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic adenitis DOID:1602 lymphadenitis DOID:1602 updated chronic adenitis DOID:1602 DOID MONDO:0002052 lymphadenitis oio:hasExactSynonym oio:hasNarrowSynonym chronic lymphadenitis chronic lymphadenitis chronic Lymphadenitis DOID:1602 lymphadenitis DOID:1602, NCIT:C26966 updated chronic lymphadenitis DOID:1602 DOID MONDO:0002066 breast adenomyoepithelioma oio:hasRelatedSynonym oio:hasExactSynonym adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma DOID:1642, NCIT:C6899 updated adenomyoepithelioma of the breast DOID:1642 DOID -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma DOID:7428 pineal region germinoma GARD:0012017 updated pineal region germinoma DOID:7428 DOID MONDO:0002087 peritoneum cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of peritoneum DOID:1725 peritoneum cancer DOID:1725, MONDO:patterns/cancer updated cancer of peritoneum DOID:1725 DOID MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm DOID:175 vascular cancer NCIT:C7387, DOID:175 updated blood vessel neoplasm DOID:175 DOID MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood vessel tumor DOID:175 vascular cancer DOID:175 updated blood vessel tumor DOID:175 DOID @@ -26939,7 +26666,6 @@ MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors DOID:175 vascular cancer DOID:175, NCIT:C7388 updated vascular tumors DOID:175 DOID MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym Haemangiomatous tumour DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 updated Haemangiomatous tumour DOID:175 DOID MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumour disorder blood vessel tumour disorder Blood vessel tumour disorder DOID:175 vascular cancer http://purl.obolibrary.org/obo/OMO_0003005 updated blood vessel tumour disorder DOID:175 DOID -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM DOID:3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM updated CM DOID:3663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0002099 Histoplasma capsulatum infectious disease oio:hasExactSynonym oio:hasRelatedSynonym American histoplasmosis DOID:1759 American histoplasmosis updated American histoplasmosis DOID:1759 DOID MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm DOID:176 cardiovascular cancer DOID:176 updated cardiovascular neoplasm DOID:176 DOID MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland DOID:1781 thyroid cancer DOID:1781 updated neoplasm of thyroid gland DOID:1781 DOID @@ -26954,15 +26680,12 @@ MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumour MONDO:0002131 jaw cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of jaw DOID:1862 jaw cancer DOID:1862 updated neoplasm of jaw DOID:1862 DOID MONDO:0002131 jaw cancer oio:hasRelatedSynonym oio:hasBroadSynonym jaw neoplasm DOID:1862 jaw cancer DOID:1862 updated jaw neoplasm DOID:1862 DOID MONDO:0002134 physiological sexual disorder oio:hasExactSynonym oio:hasBroadSynonym sexual dysfunction DOID:1876 sexual dysfunction DOID:1876 updated sexual dysfunction DOID:1876 DOID -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:VYST updated yolk sac tumor DOID:1911 DOID -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated yolk sac tumour DOID:1911 DOID MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive tumor DOID:193 reproductive organ cancer NCIT:C3674, DOID:193 updated reproductive tumor DOID:193 DOID MONDO:0002149 reproductive system cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of reproductive system DOID:193 reproductive organ cancer MONDO:patterns/cancer, DOID:193 updated cancer of reproductive system DOID:193 DOID MONDO:0002154 trichomoniasis oio:hasRelatedSynonym oio:hasExactSynonym Trichomonas infection Trichomonas infection trichomonas infection DOID:1947 trichomoniasis DOID:1947, MONDO:patterns/infectious_disease_by_agent updated Trichomonas infection DOID:1947 DOID MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis DOID:1949 cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 updated acute cholecystitis DOID:1949 DOID MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute on chronic cholecystitis DOID:1949 cholecystitis DOID:1949 updated acute on chronic cholecystitis DOID:1949 DOID MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym chronic cholecystitis DOID:1949 cholecystitis DOID:1949, ICD9CM:575.11 updated chronic cholecystitis DOID:1949 DOID -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis DOID:2828 acalculous cholecystitis GARD:0000030 updated acalculous cholecystitis DOID:2828 DOID MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube DOID:1964 fallopian tube cancer NCIT:C3032, DOID:1964 updated tumor of the fallopian tube DOID:1964 DOID MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental tumors DOID:2021 placenta cancer DOID:2021, NCIT:C4858 updated placental tumors DOID:2021 DOID MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym orbital exostosis DOID:203 exostosis DOID:203 updated orbital exostosis DOID:203 DOID @@ -26970,7 +26693,6 @@ MONDO:0002181 exostosis oio:hasExactSynonym oio:hasNarrowSynonym swimmer's exost MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym Bartholin gland neoplasm DOID:2068 Bartholin's gland benign neoplasm DOID:2068 updated Bartholin gland neoplasm DOID:2068 DOID MONDO:0002193 Bartholin gland benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of Bartholin's gland DOID:2068 Bartholin's gland benign neoplasm NCIT:C6434, DOID:2068 updated tumor of Bartholin's gland DOID:2068 DOID MONDO:0002197 minor vestibular glands adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma DOID:2075, NCIT:C40301 updated adenoma of minor vestibular glands DOID:2075 DOID -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy DOID:12084 transient arthropathy NCIT:C35761 updated transient arthropathy DOID:12084 DOID MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deficiency immunoglobulin heavy chain deficiency Immunoglobulin heavy chain deficiency DOID:2115 B cell deficiency DOID:2115 updated immunoglobulin heavy chain deficiency DOID:2115 DOID MONDO:0002211 B cell deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunoglobulin heavy chain deletion DOID:2115 B cell deficiency DOID:2115 updated immunoglobulin heavy chain deletion DOID:2115 DOID MONDO:0002214 brain germinoma oio:hasExactSynonym oio:hasBroadSynonym intracranial germinoma DOID:2127 brain germinoma DOID:2127 updated intracranial germinoma DOID:2127 DOID @@ -26990,7 +26712,6 @@ MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym acute/subac. ne MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym animal hepatitis DOID:2237 hepatitis DOID:2237 updated animal hepatitis DOID:2237 DOID MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis DOID:2237 hepatitis DOID:2237 updated chronic hepatitis DOID:2237 DOID MONDO:0002251 hepatitis oio:hasExactSynonym oio:hasNarrowSynonym chronic persistent hepatitis DOID:2237 hepatitis DOID:2237 updated chronic persistent hepatitis DOID:2237 DOID -MONDO:0002258 pharyngitis oio:hasRelatedSynonym oio:hasNarrowSynonym acute sore throat DOID:11337 Lemierre's syndrome DOID:2275 updated acute sore throat DOID:11337 DOID MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym Sore throat - chronic DOID:2275 pharyngitis DOID:2275 updated Sore throat - chronic DOID:2275 DOID MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis DOID:2275 pharyngitis ICD9CM:462, DOID:2275 updated acute pharyngitis DOID:2275 DOID MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute sore throat DOID:2275 pharyngitis DOID:2275 updated acute sore throat DOID:2275 DOID @@ -27012,7 +26733,6 @@ MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumor DOID:2410 skin granular cell tumor DOID:2410 updated skin granular cell tumor DOID:2410 DOID MONDO:0002291 cutaneous granular cell tumor oio:hasExactSynonym oio:hasRelatedSynonym skin granular cell tumour DOID:2410 skin granular cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated skin granular cell tumour DOID:2410 DOID MONDO:0002312 opportunistic mycosis oio:hasExactSynonym oio:hasNarrowSynonym opportunistic systemic mycoses DOID:2473 opportunistic mycosis DOID:2473 updated opportunistic systemic mycoses DOID:2473 DOID -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 DOID:2477 updated hereditary motor and sensory neuropathy DOID:0050541 DOID MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym HSMN - hereditary sensory and motor neuropathy HSMN - hereditary sensory and motor neuropathy HSMN - Hereditary sensory and motor neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 updated HSMN - hereditary sensory and motor neuropathy DOID:2477 DOID MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy DOID:2477 updated hereditary motor and sensory neuropathy DOID:2477 DOID MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym neuropathic muscular atrophy DOID:2477 motor peripheral neuropathy DOID:2477 updated neuropathic muscular atrophy DOID:2477 DOID @@ -27030,7 +26750,6 @@ MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal benign neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 updated laryngeal benign neoplasm DOID:2598 DOID MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym laryngeal tumor DOID:2598 laryngeal benign neoplasm NCIT:C3156, DOID:2598 updated laryngeal tumor DOID:2598 DOID MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm DOID:2598 laryngeal benign neoplasm DOID:2598 updated larynx neoplasm DOID:2598 DOID -MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottis cancer DOID:2595 glottis cancer NCIT:C4923 updated glottis cancer DOID:2595 DOID MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of larynx DOID:2600 laryngeal carcinoma DOID:2600, NCIT:C4855 updated cancer of larynx DOID:2600 DOID MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C6882 updated micropapillary serous carcinoma DOID:2632 DOID MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary serous carcinoma DOID:2632 papillary serous adenocarcinoma DOID:2632, NCIT:C8377 updated papillary serous carcinoma DOID:2632 DOID @@ -27054,7 +26773,6 @@ MONDO:0002433 malignant cranial nerve neoplasm oio:hasExactSynonym oio:hasRelate MONDO:0002434 oculomotor nerve cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant oculomotor nerve tumor DOID:2816 malignant oculomotor nerve tumor DOID:2816 updated malignant oculomotor nerve tumor DOID:2816 DOID MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor DOID:2817 cranial nerve III tumor DOID:2817 updated cranial nerve III tumor DOID:2817 DOID MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumour DOID:2817 cranial nerve III tumor http://purl.obolibrary.org/obo/OMO_0003005 updated cranial nerve III tumour DOID:2817 DOID -MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C7558 updated endometrial cancer DOID:1380 DOID MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes neoplasm of the prostate DOID:2885 benign prostate phyllodes tumor NCIT:C7574, DOID:2885 updated phyllodes neoplasm of the prostate DOID:2885 DOID MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor DOID:2885 benign prostate phyllodes tumor DOID:2885 updated prostate phyllodes tumor DOID:2885 DOID MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumour DOID:2885 benign prostate phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 updated prostate phyllodes tumour DOID:2885 DOID @@ -27062,9 +26780,7 @@ MONDO:0002459 type IV hypersensitivity disease oio:hasExactSynonym oio:hasRelate MONDO:0002464 lacrimal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the lacrimal gland DOID:294 lacrimal gland cancer NCIT:C4360, DOID:294 updated tumor of the lacrimal gland DOID:294 DOID MONDO:0002466 eye carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of eye DOID:295 eye carcinoma MONDO:patterns/carcinoma, NCIT:C6079, DOID:295 updated carcinoma of eye DOID:295 DOID MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed lacrimal gland cancer DOID:296 mixed lacrimal gland cancer DOID:296 updated mixed lacrimal gland cancer DOID:296 DOID -MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy DOID:0111866 trichothiodystrophy DOID:2960, NCIT:C4924 updated trichothiodystrophy DOID:0111866 DOID MONDO:0002470 photosensitive trichothiodystrophy oio:hasExactSynonym oio:hasBroadSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy DOID:2960 updated trichothiodystrophy with congenital ichthyosis DOID:2960 DOID -MONDO:0002471 bursitis oio:hasExactSynonym oio:hasRelatedSynonym frozen shoulder DOID:14188 frozen shoulder MESH:D002062 updated frozen shoulder DOID:14188 DOID MONDO:0002475 lacrimal gland adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma NCIT:C4541, DOID:298 updated adenocarcinoma of lacrimal gland DOID:298 DOID MONDO:0002480 endometrioid tumor oio:hasExactSynonym oio:hasRelatedSynonym female reproductive endometrioid cancer DOID:3001 female reproductive endometrioid cancer DOID:3001 updated female reproductive endometrioid cancer DOID:3001 DOID MONDO:0002480 endometrioid tumor oio:hasRelatedSynonym oio:hasExactSynonym female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer NCIT:C7113, DOID:3001 updated female reproductive endometrioid neoplasm DOID:3001 DOID @@ -27077,14 +26793,11 @@ MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelate MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant phyllodes tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 updated malignant phyllodes tumour DOID:3016 DOID MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumour DOID:3016 breast malignant phyllodes tumor http://purl.obolibrary.org/obo/OMO_0003005 updated phyllodes breast tumour DOID:3016 DOID MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym colon signet ring adenocarcinoma DOID:3033 colon signet ring adenocarcinoma DOID:3033 updated colon signet ring adenocarcinoma DOID:3033 DOID -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C7049 updated astrocytic tumor DOID:3069 DOID -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic tumor DOID:3069 malignant astrocytoma NCIT:C9022 updated astrocytic tumor DOID:3069 DOID MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym acute gingivitis DOID:3087 gingivitis DOID:3087 updated acute gingivitis DOID:3087 DOID MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis DOID:3087 gingivitis ICD9CM:523.1, DOID:3087 updated chronic gingivitis DOID:3087 DOID MONDO:0002509 non-specific granulomatous orchitis oio:hasExactSynonym oio:hasBroadSynonym granulomatous orchitis DOID:3089 granulomatous orchitis NCIT:C27162, DOID:3089 updated granulomatous orchitis DOID:3089 DOID MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating and papillary adenocarcinoma infiltrating and papillary adenocarcinoma Infiltrating and papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 updated infiltrating and papillary adenocarcinoma DOID:3112 DOID MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym infiltrating papillary adenocarcinoma DOID:3112 papillary adenocarcinoma DOID:3112 updated infiltrating papillary adenocarcinoma DOID:3112 DOID -MONDO:0002514 hepatobiliary neoplasm oio:hasExactSynonym oio:hasNarrowSynonym hepatobiliary benign neoplasm DOID:3117 hepatobiliary benign neoplasm DOID:3117 updated hepatobiliary benign neoplasm DOID:3117 DOID MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor DOID:3119 gastrointestinal system cancer NCIT:C3052, DOID:3119 updated GI tumor DOID:3119 DOID MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym Ulcer of anus DOID:3128 anus disease DOID:3128 updated Ulcer of anus DOID:3128 DOID MONDO:0002519 anus disorder oio:hasExactSynonym oio:hasRelatedSynonym anal fissure DOID:3128 anus disease DOID:3128 updated anal fissure DOID:3128 DOID @@ -27101,10 +26814,7 @@ MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBro MONDO:0002529 skin squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma NCIT:C4819, DOID:3151 updated squamous cell carcinoma of skin DOID:3151 DOID MONDO:0002531 skin neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skin benign neoplasm DOID:3165 skin benign neoplasm DOID:3165 updated skin benign neoplasm DOID:3165 DOID MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma DOID:3172 papillary adenoma NCIT:C6880, DOID:3172 updated glandular papilloma DOID:3172 DOID -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4045 updated oligodendroglioma DOID:3181 DOID -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma DOID:3181 oligodendroglioma NCIT:C4014 updated oligodendroglioma DOID:3181 DOID MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasNarrowSynonym adult brain oligodendroglioma DOID:3186 adult oligodendroglioma DOID:3186 updated adult brain oligodendroglioma DOID:3186 DOID -MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia DOID:0050152 aspiration pneumonia NCIT:C34932 updated aspiration pneumonia DOID:0050152 DOID MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasNarrowSynonym chemical pneumonitis chemical pneumonitis Chemical pneumonitis DOID:3240 aspiration pneumonitis DOID:3240 updated chemical pneumonitis DOID:3240 DOID MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym bile duct rhabdomyosarcoma DOID:3254 bile duct rhabdomyosarcoma DOID:3254 updated bile duct rhabdomyosarcoma DOID:3254 DOID MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change DOID:3274 proliferative type fibrocystic change of breast DOID:3274, NCIT:C6940 updated proliferative fibrocystic change DOID:3274 DOID @@ -27113,7 +26823,6 @@ MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor MONDO:0002597 notochordal tumor oio:hasExactSynonym oio:hasRelatedSynonym notochordal cancer DOID:3303 notochordal cancer DOID:3303 updated notochordal cancer DOID:3303 DOID MONDO:0002597 notochordal tumor oio:hasRelatedSynonym oio:hasExactSynonym notochordal tumor DOID:3303 notochordal cancer DOID:3303, NCIT:C7063 updated notochordal tumor DOID:3303 DOID MONDO:0002604 pericytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant perivascular cancer DOID:3316 perivascular tumor DOID:3316 updated malignant perivascular cancer DOID:3316 DOID -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma DOID:3347 osteosarcoma NCIT:C6585 updated osteosarcoma DOID:3347 DOID MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym Ewing's sarcoma of bone DOID:3368 Ewing sarcoma of bone DOID:3368, NCIT:C4835 updated Ewing's sarcoma of bone DOID:3368 DOID MONDO:0002625 Ewing sarcoma of bone oio:hasRelatedSynonym oio:hasExactSynonym bone Ewing's sarcoma DOID:3368 Ewing sarcoma of bone NCIT:C4835, DOID:3368 updated bone Ewing's sarcoma DOID:3368 DOID MONDO:0002644 idiopathic granulomatous myositis oio:hasExactSynonym oio:hasRelatedSynonym granulomatous myositis DOID:3428 granulomatous myositis DOID:3428 updated granulomatous myositis DOID:3428 DOID @@ -27127,16 +26836,12 @@ MONDO:0002670 ampulla of vater adenocarcinoma oio:hasRelatedSynonym oio:hasExact MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast signet ring cell adenocarcinoma DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 updated breast signet ring cell adenocarcinoma DOID:3503 DOID MONDO:0002671 signet ring cell breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym signet Ring cell carcinoma of breast signet Ring cell carcinoma of breast signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma NCIT:C5175 updated signet Ring cell carcinoma of breast DOID:3503 DOID MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant oio:hasExactSynonym oio:hasRelatedSynonym prostate signet ring cell adenocarcinoma DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 updated prostate signet ring cell adenocarcinoma DOID:3504 DOID -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C7809 updated fibrosarcoma DOID:3355 DOID -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma DOID:3355 fibrosarcoma NCIT:C8088 updated fibrosarcoma DOID:3355 DOID MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus DOID:3540 choroid plexus cancer DOID:3540 updated tumor of choroid plexus DOID:3540 DOID MONDO:0002681 choroid plexus cancer oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer DOID:3540 updated choroid plexus neoplasm DOID:3540 DOID -MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasBroadSynonym choroid plexus neoplasm DOID:3540 choroid plexus cancer NCIT:C8568 updated choroid plexus neoplasm DOID:3540 DOID MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adult choroid plexus cancer DOID:3542 adult choroid plexus cancer DOID:3542 updated adult choroid plexus cancer DOID:3542 DOID MONDO:0002683 adult choroid plexus neoplasm oio:hasRelatedSynonym oio:hasExactSynonym adult choroid plexus tumor DOID:3542 adult choroid plexus cancer NCIT:C8568, DOID:3542 updated adult choroid plexus tumor DOID:3542 DOID MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood choroid plexus cancer DOID:3545 childhood choroid plexus cancer DOID:3545 updated childhood choroid plexus cancer DOID:3545 DOID MONDO:0002685 childhood choroid plexus carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer DOID:3545 updated childhood choroid plexus neoplasm DOID:3545 DOID -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma DOID:3301 gonadoblastoma OMIM:424500 updated gonadoblastoma DOID:3301 DOID MONDO:0002707 breast mucinous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma NCIT:C9131, DOID:3610 updated mucinous carcinoma of breast DOID:3610 DOID MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm DOID:3620 central nervous system cancer DOID:3620 updated CNS neoplasm DOID:3620 DOID MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor DOID:3620 central nervous system cancer DOID:3620 updated central nervous system tumor DOID:3620 DOID @@ -27159,11 +26864,8 @@ MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym pr MONDO:0002776 external ear disorder oio:hasExactSynonym oio:hasRelatedSynonym preauricular sinus or fistula preauricular sinus or fistula Preauricular sinus or fistula DOID:379 external ear disease http://purl.obolibrary.org/obo/mondo#DUBIOUS DOID:379 updated preauricular sinus or fistula DOID:379 DOID MONDO:0002785 skull base neoplasm oio:hasExactSynonym oio:hasRelatedSynonym skull base cancer DOID:3842 skull base cancer DOID:3842 updated skull base cancer DOID:3842 DOID MONDO:0002786 diencephalic cancer oio:hasExactSynonym oio:hasRelatedSynonym diencephalic neoplasm DOID:3843 diencephalic neoplasm DOID:3843 updated diencephalic neoplasm DOID:3843 DOID -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C4011 updated medulloblastoma DOID:0050902 DOID -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma DOID:0050902 medulloblastoma NCIT:C3997 updated medulloblastoma DOID:0050902 DOID MONDO:0002804 apocrine adenoma oio:hasExactSynonym oio:hasNarrowSynonym tubular apocrine adenoma tubular apocrine adenoma tubular Apocrine adenoma DOID:3895 apocrine adenoma NCIT:C27527, DOID:3895 updated tubular apocrine adenoma DOID:3895 DOID MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma DOID:3896 hidradenoma DOID:3896, NCIT:C7560 updated sweat gland adenoma DOID:3896 DOID -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma DOID:5442 eccrine acrospiroma NCIT:C7563 updated eccrine acrospiroma DOID:5442 DOID MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm DOID:3953 adrenal gland cancer DOID:3953 updated adrenal neoplasm DOID:3953 DOID MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland tumor of the Adrenal gland DOID:3953 adrenal gland cancer NCIT:C2859, DOID:3953 updated tumor of the adrenal gland DOID:3953 DOID MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma DOID:3965 Merkel cell carcinoma DOID:3965 updated Merkel cell carcinoma DOID:3965 DOID @@ -27182,7 +26884,6 @@ MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym primary b MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cerebellum cancer DOID:4205 cerebellum cancer DOID:4205 updated cerebellum cancer DOID:4205 DOID MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum malignant tumor of Cerebellum DOID:4205 cerebellum cancer DOID:4205, NCIT:C3569 updated malignant tumor of cerebellum DOID:4205 DOID MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym oio:hasNarrowSynonym hair disease DOID:421 hair disease MESH:D006201 updated hair disease DOID:421 DOID -MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy DOID:14717 centronuclear myopathy NCIT:C84648 updated centronuclear myopathy DOID:14717 DOID MONDO:0002935 penis basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma DOID:4277, NCIT:C39961 updated basal cell carcinoma of the penis DOID:4277 DOID MONDO:0002940 anal margin basal cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma DOID:4283, NCIT:C7473 updated basal cell carcinoma of anal margin DOID:4283 DOID MONDO:0002941 anal margin carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of anal margin DOID:4284 anal margin carcinoma DOID:4284, NCIT:C7472 updated carcinoma of anal margin DOID:4284 DOID @@ -27200,15 +26901,11 @@ MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of t MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym uterine cervical neoplasm DOID:4362 cervical cancer DOID:4362 updated uterine cervical neoplasm DOID:4362 DOID MONDO:0002977 autoimmune disorder of the nervous system oio:hasRelatedSynonym oio:hasExactSynonym autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system DOID:438, NCIT:C99383 updated autoimmune nervous system disorder DOID:438 DOID MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues oio:hasExactSynonym oio:hasRelatedSynonym soft tissue peripheral neuroepithelioma DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 updated soft tissue peripheral neuroepithelioma DOID:4389 DOID -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial germinoma DOID:2127 brain germinoma Orphanet:91352 updated intracranial germinoma DOID:2127 DOID MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism DOID:446 primary hyperaldosteronism DOID:446 updated primary hyperaldosteronism DOID:446 DOID MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym hypopotassemia DOID:4500 hypokalemia DOID:4500 updated hypopotassemia DOID:4500 DOID MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder DOID:4500 hypokalemia DOID:4500 updated potassium deficiency disorder DOID:4500 DOID -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma DOID:0001816 angiosarcoma NCIT:C9174 updated angiosarcoma DOID:0001816 DOID MONDO:0003030 endometrioid stromal sarcoma of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervical endometrial stromal sarcoma DOID:4520 cervical endometrial stromal sarcoma DOID:4520 updated cervical endometrial stromal sarcoma DOID:4520 DOID MONDO:0003031 endometrioid stromal and related neoplasms of the cervix oio:hasExactSynonym oio:hasRelatedSynonym cervix endometrial stromal tumor DOID:4521 cervix endometrial stromal tumor DOID:4521 updated cervix endometrial stromal tumor DOID:4521 DOID -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma DOID:4545 mesenchymal chondrosarcoma NCIT:C27374 updated mesenchymal chondrosarcoma DOID:4545 DOID -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma NCIT:C8264 updated meningioma DOID:3565 DOID MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasBroadSynonym bile duct tumor DOID:4606 bile duct cancer NCIT:C2898, DOID:4606 updated bile duct tumor DOID:4606 DOID MONDO:0003059 bile duct cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the extrahepatic bile duct DOID:4606 bile duct cancer NCIT:C7483, DOID:4606 updated malignant neoplasm of the extrahepatic bile duct DOID:4606 DOID MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym muscle benign neoplasm DOID:461 muscle benign neoplasm DOID:461 updated muscle benign neoplasm DOID:461 DOID @@ -27223,43 +26920,32 @@ MONDO:0003107 infratentorial cancer oio:hasExactSynonym oio:hasBroadSynonym brai MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor DOID:4737 somatoform disorder DOID:4737 updated physiological malfunction arising from mental factor DOID:4737 DOID MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychophysiologic disorder DOID:4737 somatoform disorder DOID:4737 updated psychophysiologic disorder DOID:4737 DOID MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym psychosomatic disorder DOID:4737 somatoform disorder DOID:4737 updated psychosomatic disorder DOID:4737 DOID -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:MGCT updated mixed germ cell tumor DOID:3306 DOID -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 updated mixed germ cell tumour DOID:3306 DOID MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis DOID:4743 mixed testicular germ cell tumor DOID:4743, NCIT:C6347 updated mixed germ cell tumor of testis DOID:4743 DOID MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumor DOID:4743 mixed testicular germ cell tumor DOID:4743 updated mixed testicular germ cell tumor DOID:4743 DOID MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour of testis DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated mixed germ cell tumour of testis DOID:4743 DOID MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed testicular germ cell tumour DOID:4743 mixed testicular germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated mixed testicular germ cell tumour DOID:4743 DOID -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal neoplasm DOID:192 sex cord-gonadal stromal tumor DOID:4757 updated sex cord-stromal neoplasm DOID:192 DOID -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9091 updated brain stem glioma DOID:4202 DOID MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym Gorham's disease DOID:4837 Gorham's disease MONDO:LexicalVariant, doi:10.1093/jama/9780195176339.003.0016 updated Gorham's disease DOID:4837 DOID MONDO:0003157 disappearing bone disease oio:hasExactSynonym oio:hasRelatedSynonym massive osteolysis DOID:4837 Gorham's disease DOID:4837 updated massive osteolysis DOID:4837 DOID MONDO:0003177 prostate adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma NCIT:C5539, DOID:4868 updated adenoid cystic carcinoma of prostate DOID:4868 DOID MONDO:0003181 lung adenoid cystic carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma DOID:4872, NCIT:C5666 updated adenoid cystic carcinoma of lung DOID:4872 DOID MONDO:0003184 trachea carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of the trachea DOID:4876 trachea carcinoma NCIT:C9347, DOID:4876 updated carcinoma of the trachea DOID:4876 DOID -MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 updated Pancoast's tumour DOID:8007 DOID MONDO:0003185 adenoid cystic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma DOID:4877, NCIT:C5130 updated adenoid cystic carcinoma of breast DOID:4877 DOID MONDO:0003189 middle ear adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of middle Ear adenocarcinoma of middle Ear adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma NCIT:C6848 updated adenocarcinoma of middle Ear DOID:4892 DOID MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle Ear carcinoma of middle Ear carcinoma of middle ear DOID:4893 middle ear carcinoma NCIT:C6089 updated carcinoma of middle Ear DOID:4893 DOID MONDO:0003190 middle ear carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of middle ear DOID:4893 middle ear carcinoma DOID:4893, MONDO:patterns/carcinoma updated carcinoma of middle ear DOID:4893 DOID MONDO:0003195 peritoneal serous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym primary peritoneal serous adenocarcinoma DOID:4901 peritoneal serous adenocarcinoma DOID:4901 updated primary peritoneal serous adenocarcinoma DOID:4901 DOID -MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendix cancer DOID:11239 appendix cancer NCIT:C9330 updated appendix cancer DOID:11239 DOID MONDO:0003198 small intestine adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma DOID:4906, NCIT:C7888 updated adenocarcinoma of small intestine DOID:4906 DOID -MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer DOID:14110 anus cancer NCIT:C9291 updated anal cancer DOID:14110 DOID MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym Ca anus DOID:4908 anal carcinoma DOID:4908 updated Ca anus DOID:4908 DOID MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basophilic carcinoma DOID:4915 basophilic adenocarcinoma DOID:4915 updated basophilic carcinoma DOID:4915 DOID MONDO:0003205 renal pelvis adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma DOID:4918, NCIT:C6143 updated adenocarcinoma of renal pelvis DOID:4918 DOID -MONDO:0003208 breast secretory carcinoma oio:hasRelatedSynonym oio:hasExactSynonym cystic hypersecretory carcinoma of the breast DOID:7537 breast cystic hypersecretory carcinoma NCIT:C4189 updated cystic hypersecretory carcinoma of the breast DOID:7537 DOID MONDO:0003211 nasal cavity adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma NCIT:C6015, DOID:4930 updated adenocarcinoma of nasal cavity DOID:4930 DOID -MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer DOID:10811 nasal cavity cancer NCIT:C9336 updated nasal cavity cancer DOID:10811 DOID MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931 updated cancer of nasal cavity DOID:4931 DOID MONDO:0003212 nasal cavity carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma NCIT:C9336, DOID:4931, MONDO:patterns/carcinoma updated carcinoma of nasal cavity DOID:4931 DOID MONDO:0003216 ureter adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma DOID:4938, NCIT:C6155 updated adenocarcinoma of ureter DOID:4938 DOID MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma DOID:4944, NCIT:C9296 updated adenocarcinoma of gastroesophageal junction DOID:4944 DOID -MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer DOID:3121 gallbladder cancer NCIT:C3844 updated gallbladder cancer DOID:3121 DOID MONDO:0003231 acute nonparalytic poliomyelitis oio:hasExactSynonym oio:hasNarrowSynonym non-paralytic aseptic meningitis DOID:4986 nonparalytic poliomyelitis DOID:4986 updated non-paralytic aseptic meningitis DOID:4986 DOID MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym essential hereditary tremor DOID:4990 essential tremor DOID:4990 updated essential hereditary tremor DOID:4990 DOID MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym optic tract astrocytoma DOID:4991 optic nerve astrocytoma MONDO:patterns/location, DOID:4991 updated optic tract astrocytoma DOID:4991 DOID -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma DOID:0081248 pineocytoma DOID:5032 updated pinealoma DOID:0081248 DOID MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region neoplasm of the Pineal Region DOID:5032 pineal gland cancer DOID:5032 updated neoplasm of the pineal region DOID:5032 DOID MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic tumor DOID:5032 pineal gland cancer DOID:5032 updated pineocytic tumor DOID:5032 DOID MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region DOID:5032 pineal gland cancer DOID:5032 updated tumor of the pineal region DOID:5032 DOID @@ -27271,7 +26957,6 @@ MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thorax neo MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax DOID:5093 thoracic cancer DOID:5093 updated tumor of thorax DOID:5093 DOID MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear DOID:5099 middle ear cancer NCIT:C4412, DOID:5099 updated tumor of the middle ear DOID:5099 DOID MONDO:0003277 malignant ear neoplasm oio:hasExactSynonym oio:hasRelatedSynonym auricular cancer DOID:5101 ear cancer DOID:5101 updated auricular cancer DOID:5101 DOID -MONDO:0003282 ovarian cyst oio:hasExactSynonym oio:hasRelatedSynonym corpus luteum cyst DOID:13050 corpus luteum cyst MESH:D010048 updated corpus luteum cyst DOID:13050 DOID MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma DOID:5157 benign pleural mesothelioma DOID:5157 updated benign pleural mesothelioma DOID:5157 DOID MONDO:0003312 ovarian endometrioid stromal and related neoplasms oio:hasExactSynonym oio:hasRelatedSynonym ovarian endometrioid stromal sarcoma DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 updated ovarian endometrioid stromal sarcoma DOID:5169 DOID MONDO:0003313 endometrioid stromal sarcoma of the vagina oio:hasExactSynonym oio:hasRelatedSynonym vaginal endometrial stromal sarcoma DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 updated vaginal endometrial stromal sarcoma DOID:5170 DOID @@ -27284,19 +26969,12 @@ MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:ha MONDO:0003320 blastema predominant kidney Wilms tumor oio:hasExactSynonym oio:hasRelatedSynonym blastema predominant kidney Wilms' tumour DOID:5182 blastema predominant kidney Wilms' tumor http://purl.obolibrary.org/obo/OMO_0003005 updated blastema predominant kidney Wilms' tumour DOID:5182 DOID MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 DOID:5183 hereditary Wilms' tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 updated WT1 DOID:5183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hilar cholangiocellular carcinoma DOID:4927 Klatskin's tumor DOID:5246 updated hilar cholangiocellular carcinoma DOID:4927 DOID -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma DOID:0081028 glycogen-rich carcinoma NCIT:C4153, DOID:5310 updated glycogen-rich carcinoma DOID:0081028 DOID MONDO:0003392 fallopian tube germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube germ cell cancer DOID:5324 fallopian tube germ cell cancer DOID:5324 updated fallopian tube germ cell cancer DOID:5324 DOID MONDO:0003392 fallopian tube germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer DOID:5324, NCIT:C40130 updated fallopian tube germ cell neoplasm DOID:5324 DOID MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor pediatric central nervous system Yolk Sac tumor DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C6209 updated pediatric central nervous system yolk Sac tumor DOID:5343 DOID MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac tumor of the CNS DOID:5343 central nervous system endodermal sinus tumor DOID:5343, NCIT:C7011 updated yolk Sac tumor of the CNS DOID:5343 DOID MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym paediatric central nervous system yolk Sac tumour paediatric central nervous system yolk Sac tumour paediatric central nervous system Yolk Sac tumour DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated paediatric central nervous system yolk Sac tumour DOID:5343 DOID MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour of the CNS yolk Sac tumour of the CNS Yolk Sac tumour of the CNS DOID:5343 central nervous system endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated yolk Sac tumour of the CNS DOID:5343 DOID -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:TYST updated yolk sac tumor DOID:1911 DOID -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated yolk sac tumour DOID:1911 DOID -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor yolk sac tumor DOID:1911 endodermal sinus tumor NCIT:C27241 updated yolk Sac tumor DOID:1911 DOID -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumour yolk Sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated yolk Sac tumour DOID:1911 DOID -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6285 updated central nervous system germ cell tumor DOID:4439 DOID -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated central nervous system germ cell tumour DOID:4439 DOID MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumor DOID:5349 central nervous system adult germ cell tumor DOID:5349 updated central nervous system adult germ cell tumor DOID:5349 DOID MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system adult germ cell tumour DOID:5349 central nervous system adult germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated central nervous system adult germ cell tumour DOID:5349 DOID MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym non-organic sleep disorder non-organic sleep disorder Non-organic sleep disorder DOID:535 sleep disorder DOID:535 updated non-organic sleep disorder DOID:535 DOID @@ -27319,7 +26997,6 @@ MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma DOID:5444 spiradenoma NCIT:C4170 updated eccrine spiradenoma DOID:5444 DOID MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma of skin eccrine spiradenoma of skin Eccrine spiradenoma of skin DOID:5444 spiradenoma DOID:5444 updated eccrine spiradenoma of skin DOID:5444 DOID MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival tumor DOID:5467 conjunctival cancer DOID:5467, NCIT:C2961 updated conjunctival tumor DOID:5467 DOID -MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma DOID:4441 dysgerminoma ONCOTREE:ODYS updated dysgerminoma DOID:4441 DOID MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma DOID:5522 basaloid squamous cell carcinoma DOID:5522, NCIT:C4121 updated basaloid carcinoma DOID:5522 DOID MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 updated acantholytic squamous cell carcinoma DOID:5524 DOID MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoacanthoma DOID:5524 adenoid squamous cell carcinoma DOID:5524 updated adenoacanthoma DOID:5524 DOID @@ -27334,11 +27011,8 @@ MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRela MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumour of anus DOID:5545 anal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 updated neuroendocrine tumour of anus DOID:5545 DOID MONDO:0003505 femoral cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of femur DOID:5546 femoral cancer DOID:5546 updated neoplasm of femur DOID:5546 DOID MONDO:0003505 femoral cancer oio:hasRelatedSynonym oio:hasBroadSynonym femoral neoplasm DOID:5546 femoral cancer DOID:5546 updated femoral neoplasm DOID:5546 DOID -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:TCCA updated choriocarcinoma DOID:3594 DOID -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer DOID:2998 testicular cancer NCIT:C9063 updated testicular cancer DOID:2998 DOID MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular malignant germ cell cancer DOID:5556 testicular malignant germ cell cancer DOID:5556 updated testicular malignant germ cell cancer DOID:5556 DOID MONDO:0003514 malignant teratoma oio:hasExactSynonym oio:hasNarrowSynonym malignant extragonadal teratoma malignant extragonadal teratoma malignant Extragonadal teratoma DOID:5563 malignant teratoma DOID:5563 updated malignant extragonadal teratoma DOID:5563 DOID -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma DOID:3307 teratoma NCIT:C9013 updated teratoma DOID:3307 DOID MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasNarrowSynonym malignant gastrinoma DOID:5577 gastrinoma DOID:5577 updated malignant gastrinoma DOID:5577 DOID MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma DOID:5579 gastric gastrinoma DOID:5579 updated gastric gastrinoma DOID:5579 DOID MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma DOID:5591 eccrine papillary adenocarcinoma DOID:5591 updated digital papillary adenocarcinoma DOID:5591 DOID @@ -27346,7 +27020,6 @@ MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSyno MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma DOID:5592 breast papillary carcinoma DOID:5592 updated breast solid papillary carcinoma DOID:5592 DOID MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of breast DOID:5592 breast papillary carcinoma NCIT:C9134, DOID:5592 updated papillary carcinoma of breast DOID:5592 DOID MONDO:0003532 breast papillary carcinoma oio:hasRelatedSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma DOID:5592 updated solid papillary carcinoma of the breast DOID:5592 DOID -MONDO:0003544 spinal cord cancer oio:hasRelatedSynonym oio:hasExactSynonym spinal cord cancer DOID:14150 spinal cord lymphoma MONDO:patterns/location updated spinal cord cancer DOID:14150 DOID MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym intraspinal tumor intraspinal tumor Intraspinal tumor DOID:5612 spinal cancer NCIT:C3382, DOID:5612 updated intraspinal tumor DOID:5612 DOID MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm DOID:5612 spinal cancer DOID:5612 updated spinal cord neoplasm DOID:5612 DOID MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord tumor of the Spinal Cord DOID:5612 spinal cancer DOID:5612, NCIT:C3381 updated tumor of the spinal cord DOID:5612 DOID @@ -27354,51 +27027,33 @@ MONDO:0003545 intradural extramedullary spinal canal neoplasm oio:hasExactSynony MONDO:0003554 adenosquamous colon carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma NCIT:C5491, DOID:5629 updated adenosquamous carcinoma of colon DOID:5629 DOID MONDO:0003558 adenosquamous prostate carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma NCIT:C5538, DOID:5634 updated adenosquamous carcinoma of prostate DOID:5634 DOID MONDO:0003579 retinal nerve fiber layer disorder oio:hasExactSynonym oio:hasRelatedSynonym nerve fibre bundle defect DOID:5678 nerve fibre bundle defect http://purl.obolibrary.org/obo/OMO_0003005 updated nerve fibre bundle defect DOID:5678 DOID -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:OEC updated embryonal carcinoma DOID:3308 DOID MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym HBOC syndrome DOID:5683 hereditary breast ovarian cancer syndrome MESH:D061325 updated HBOC syndrome DOID:5683 DOID -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C7811 updated liposarcoma DOID:3382 DOID -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma DOID:3382 liposarcoma NCIT:C8091 updated liposarcoma DOID:3382 DOID MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hormone producing pituitary cancer DOID:5716 hormone producing pituitary cancer DOID:5716 updated hormone producing pituitary cancer DOID:5716 DOID MONDO:0003604 functioning pituitary gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym somatotropinoma somatotropinoma Somatotropinoma DOID:5716 hormone producing pituitary cancer DOID:5716, NCIT:C7911 updated somatotropinoma DOID:5716 DOID MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm DOID:5719 adrenal medulla cancer DOID:5719 updated adrenal medulla neoplasm DOID:5719 DOID MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor DOID:5719 adrenal medulla cancer DOID:5719 updated adrenal medulla tumor DOID:5719 DOID MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral nerve disease DOID:574 peripheral nervous system disease MTH:516, DOID:574, NCIT:C27580, MESH:D010523 updated peripheral nerve disease DOID:574 DOID MONDO:0003620 peripheral nervous system disorder oio:hasRelatedSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:574 peripheral nervous system disease MESH:D010523, DOID:574 updated peripheral neuropathy DOID:574 DOID -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy DOID:870 neuropathy MESH:D010523, DOID:574 updated peripheral neuropathy DOID:870 DOID MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym oio:hasRelatedSynonym lung clear cell-sugar-tumor DOID:5763 lung clear cell-sugar-tumor DOID:5763 updated lung clear cell-sugar-tumor DOID:5763 DOID MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym central nervous system hematologic cancer DOID:5772 central nervous system hematologic cancer DOID:5772 updated central nervous system hematologic cancer DOID:5772 DOID MONDO:0003641 central nervous system hematopoietic neoplasm oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer DOID:5772, NCIT:C5503 updated hematopoietic neoplasm of central nervous system DOID:5772 DOID MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of rectum DOID:5777 rectum neuroendocrine neoplasm DOID:5777, ORCID:0000-0002-0587-4693 updated neuroendocrine tumor of rectum DOID:5777 DOID -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C5165 updated lymphoma DOID:0060058 DOID -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma DOID:0060058 lymphoma NCIT:C7587 updated lymphoma DOID:0060058 DOID MONDO:0003688 well differentiated papillary mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym benign intermediate mesothelioma DOID:5884 benign intermediate mesothelioma DOID:5884 updated benign intermediate mesothelioma DOID:5884 DOID -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma DOID:5889 anaplastic ependymoma NCIT:C8269 updated anaplastic ependymoma DOID:5889 DOID -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C8097 updated malignant mesenchymoma DOID:5758 DOID -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma DOID:5758 malignant mesenchymoma NCIT:C7947 updated malignant mesenchymoma DOID:5758 DOID MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym oio:hasRelatedSynonym penis non-invasive verrucous carcinoma DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 updated penis non-invasive verrucous carcinoma DOID:5907 DOID -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor DOID:3306 mixed germ cell cancer ONCOTREE:OMGCT updated mixed germ cell tumor DOID:3306 DOID -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumour DOID:3306 mixed germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 updated mixed germ cell tumour DOID:3306 DOID MONDO:0003725 breast adenosis oio:hasExactSynonym oio:hasRelatedSynonym microglandular adenosis DOID:5998 microglandular adenosis DOID:5998 updated microglandular adenosis DOID:5998 DOID MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym subleukemic leukemia DOID:12965 subleukemic leukemia DOID:12965 updated subleukemic leukemia DOID:12965 DOID -MONDO:0003730 aleukemic leukemia oio:hasExactSynonym oio:hasRelatedSynonym aleukemic myelosis aleukemic myelosis Aleukemic myelosis DOID:4971 myelofibrosis DOID:6004 updated aleukemic myelosis DOID:4971 DOID -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:BMT updated mature teratoma DOID:5566 DOID -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:BIMT updated immature teratoma DOID:5563 DOID MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumor juvenile granulosa cell tumor Juvenile granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 updated juvenile granulosa cell tumor DOID:6032 DOID MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell neoplasm DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 updated juvenile type granulosa cell neoplasm DOID:6032 DOID MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumor juvenile type granulosa cell tumor Juvenile type Granulosa cell tumor DOID:6032 juvenile type testicular granulosa cell tumor NCIT:C4207, DOID:6032 updated juvenile type granulosa cell tumor DOID:6032 DOID MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile granulosa cell tumour juvenile granulosa cell tumour Juvenile granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated juvenile granulosa cell tumour DOID:6032 DOID MONDO:0003741 juvenile type testicular granulosa cell tumor oio:hasExactSynonym oio:hasBroadSynonym juvenile type granulosa cell tumour juvenile type granulosa cell tumour Juvenile type Granulosa cell tumour DOID:6032 juvenile type testicular granulosa cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated juvenile type granulosa cell tumour DOID:6032 DOID MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer esophageal Ulcer DOID:6050 esophageal disease DOID:6050, NCIT:C26950 updated esophageal ulcer DOID:6050 DOID -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor DOID:4439 central nervous system germ cell tumor NCIT:C6205 updated central nervous system germ cell tumor DOID:4439 DOID -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumour DOID:4439 central nervous system germ cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated central nervous system germ cell tumour DOID:4439 DOID -MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym germ cell tumour DOID:2994 germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 updated germ cell tumour DOID:2994 DOID MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric germ cell cancer DOID:6053 childhood germ cell cancer DOID:6053 updated pediatric germ cell cancer DOID:6053 DOID MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym paediatric germ cell cancer DOID:6053 childhood germ cell cancer http://purl.obolibrary.org/obo/OMO_0003005 updated paediatric germ cell cancer DOID:6053 DOID MONDO:0003751 childhood germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym pediatric germ cell tumor DOID:6053 childhood germ cell cancer DOID:6053, NCIT:C7928 updated pediatric germ cell tumor DOID:6053 DOID MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm DOID:6067 ovarian mucinous neoplasm DOID:6067 updated malignant ovarian mucinous neoplasm DOID:6067 DOID MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor DOID:6083 childhood ovarian endodermal sinus tumor NCIT:C6551 updated childhood ovarian endodermal sinus tumor DOID:6083 DOID MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumour DOID:6083 childhood ovarian endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated childhood ovarian endodermal sinus tumour DOID:6083 DOID -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasRelatedSynonym oio:hasBroadSynonym ovarian germ cell tumor DOID:2156 ovarian germ cell cancer NCIT:C8588 updated ovarian germ cell tumor DOID:2156 DOID MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal cancer DOID:6086 malignant leptomeningeal neoplasm NCIT:C8506 updated leptomeningeal cancer DOID:6086 DOID MONDO:0003766 thalamic cancer oio:hasExactSynonym oio:hasRelatedSynonym thalamic neoplasm DOID:6098 thalamic neoplasm DOID:6098 updated thalamic neoplasm DOID:6098 DOID MONDO:0003767 mitral valve disorder oio:hasExactSynonym oio:hasNarrowSynonym rheumatic disease of mitral valve DOID:61 mitral valve disease DOID:61 updated rheumatic disease of mitral valve DOID:61 DOID @@ -27421,13 +27076,10 @@ MONDO:0003788 childhood embryonal testis carcinoma oio:hasRelatedSynonym oio:has MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym oio:hasRelatedSynonym rectum Kaposi's sarcoma DOID:6190 rectum Kaposi's sarcoma DOID:6190 updated rectum Kaposi's sarcoma DOID:6190 DOID MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal tumor DOID:6199 cornea cancer DOID:6199, NCIT:C4361 updated corneal tumor DOID:6199 DOID MONDO:0003805 malignant pericardial mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym pericardial mesothelioma DOID:6201 pericardial mesothelioma MONDO:ambiguous updated pericardial mesothelioma DOID:6201 DOID -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma DOID:5566 mature teratoma ONCOTREE:OMT updated mature teratoma DOID:5566 DOID MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary DOID:6231 mature teratoma of the ovary NCIT:C8112 updated mature teratoma of the ovary DOID:6231 DOID MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting adenoma of the Pituitary DOID:6275 TSH producing pituitary tumor DOID:6275, NCIT:C8011 updated TSH secreting adenoma of the pituitary DOID:6275 DOID MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma DOID:6275 TSH producing pituitary tumor updated thyrotroph adenoma DOID:6275 DOID -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma DOID:4848 cerebellar astrocytoma NCIT:C6286 updated cerebellar astrocytoma DOID:4848 DOID MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disease DOID:630 genetic disease updated genetic disease DOID:630 DOID -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma DOID:4202 brain stem glioma NCIT:C9042 updated brain stem glioma DOID:4202 DOID MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis DOID:6474 childhood teratocarcinoma of the testis NCIT:C6539 updated childhood teratocarcinoma of the testis DOID:6474 DOID MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant oio:hasExactSynonym oio:hasRelatedSynonym clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 updated clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 DOID MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym lung acinar adenocarcinoma DOID:6482 lung acinar adenocarcinoma DOID:6482 updated lung acinar adenocarcinoma DOID:6482 DOID @@ -27442,19 +27094,12 @@ MONDO:0003945 bone epithelioid hemangioma oio:hasExactSynonym oio:hasBroadSynony MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome DOID:0080544 hyper IgM syndrome NCIT:C3990 updated hyperimmunoglobulin M syndrome DOID:0080544 DOID MONDO:0003954 angiokeratoma of Fordyce oio:hasExactSynonym oio:hasNarrowSynonym Fordyce-type angiokeratoma of scrotum Fordyce-type angiokeratoma of scrotum Fordyce-type Angiokeratoma of scrotum DOID:664 angiokeratoma of Fordyce DOID:664 updated Fordyce-type angiokeratoma of scrotum DOID:664 DOID MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast juvenile papillomatosis DOID:6641 breast juvenile papillomatosis DOID:6641 updated breast juvenile papillomatosis DOID:6641 DOID -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma DOID:1664 pineoblastoma NCIT:C8292 updated pineoblastoma DOID:1664 DOID -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 updated fibrodysplasia ossificans progressiva DOID:13374 DOID -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 updated progressive myositis ossificans DOID:13374 DOID -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive ossifying myositis DOID:13374 fibrodysplasia ossificans progressiva MESH:D009221 updated progressive ossifying myositis DOID:13374 DOID MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma DOID:6700, NCIT:C8398 updated cancer of fundus of stomach DOID:6700 DOID MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer DOID:6741 bilateral breast cancer DOID:6741, NCIT:C8287 updated bilateral breast cancer DOID:6741 DOID MONDO:0003985 chest wall lymphoma oio:hasExactSynonym oio:hasBroadSynonym chest wall cancer DOID:6758 chest wall lymphoma DOID:6758 updated chest wall cancer DOID:6758 DOID -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-type Embryonal Rhabdomyosarcoma DOID:3255 botryoid rhabdomyosarcoma NCIT:C35574 updated botryoid-type embryonal rhabdomyosarcoma DOID:3255 DOID -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma DOID:4851 pilocytic astrocytoma NCIT:C4048 updated pilocytic astrocytoma DOID:4851 DOID MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym adult vagina botryoid rhabdomyosarcoma DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 updated adult vagina botryoid rhabdomyosarcoma DOID:6848 DOID MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial polyp DOID:6873 skin tag NCIT:C3337, DOID:6873 updated fibroepithelial polyp DOID:6873 DOID MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma DOID:6933 bladder transitional cell papilloma DOID:6933 updated bladder transitional cell papilloma DOID:6933 DOID -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma DOID:4653 intraocular retinoblastoma NCIT:C9047 updated intraocular retinoblastoma DOID:4653 DOID MONDO:0004056 bladder papillary urothelial carcinoma oio:hasExactSynonym oio:hasRelatedSynonym bladder urothelial papillary carcinoma DOID:6975 bladder urothelial papillary carcinoma DOID:6975 updated bladder urothelial papillary carcinoma DOID:6975 DOID MONDO:0004056 bladder papillary urothelial carcinoma oio:hasRelatedSynonym oio:hasExactSynonym urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma NCIT:C7383, DOID:6975 updated urothelial papillary carcinoma of the bladder DOID:6975 DOID MONDO:0004062 intermediate cell type uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym intraocular mixed cell type melanoma DOID:6992 intraocular mixed cell type melanoma DOID:6992 updated intraocular mixed cell type melanoma DOID:6992 DOID @@ -27462,7 +27107,6 @@ MONDO:0004063 intermediate cell type iris melanoma oio:hasExactSynonym oio:hasRe MONDO:0004064 iris melanoma oio:hasExactSynonym oio:hasRelatedSynonym malignant iris melanoma DOID:6994 malignant iris melanoma DOID:6994 updated malignant iris melanoma DOID:6994 DOID MONDO:0004067 gallbladder mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym gallbladder mucinous carcinoma DOID:6998 gallbladder mucinous carcinoma DOID:6998 updated gallbladder mucinous carcinoma DOID:6998 DOID MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial metabolism disease DOID:700 mitochondrial metabolism disease DOID:700 updated mitochondrial metabolism disease DOID:700 DOID -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma DOID:3069 malignant astrocytoma NCIT:C4347 updated cerebral astrocytoma DOID:3069 DOID MONDO:0004079 lung mucous gland adenoma oio:hasExactSynonym oio:hasRelatedSynonym bronchial mucus gland adenoma DOID:7030 bronchial mucus gland adenoma DOID:7030 updated bronchial mucus gland adenoma DOID:7030 DOID MONDO:0004080 glottis squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma NCIT:C8186, DOID:7031 updated squamous cell carcinoma of glottis DOID:7031 DOID MONDO:0004087 basaloid large cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid lung carcinoma DOID:7045 basaloid lung carcinoma DOID:7045 updated basaloid lung carcinoma DOID:7045 DOID @@ -27471,7 +27115,6 @@ MONDO:0004091 skin basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma DOID:7051 esophageal basaloid squamous cell carcinoma NCIT:C7032 updated esophageal basaloid squamous cell carcinoma DOID:7051 DOID MONDO:0004095 B-cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym B-cell lymphoma DOID:707 B-cell lymphoma DOID:707 updated B-cell lymphoma DOID:707 DOID MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung DOID:7081 lung mixed small cell and squamous cell carcinoma NCIT:C9424, DOID:7081 updated small cell and large cell carcinoma of the lung DOID:7081 DOID -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C8095 updated epithelioid sarcoma DOID:6193 DOID MONDO:0004106 testicular yolk sac tumor, macrocystic pattern oio:hasExactSynonym oio:hasRelatedSynonym macrocystic pattern testicular yolk sac tumor DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 updated macrocystic pattern testicular yolk sac tumor DOID:7097 DOID MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasRelatedSynonym oio:hasExactSynonym small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma DOID:7132, NCIT:C9461 updated small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 DOID MONDO:0004120 Bartholin gland small cell carcinoma oio:hasNarrowSynonym oio:hasExactSynonym Bartholin gland small cell carcinoma DOID:7140 Bartholin's gland small cell carcinoma NCIT:C40298, DOID:7140 updated Bartholin gland small cell carcinoma DOID:7140 DOID @@ -27496,16 +27139,11 @@ MONDO:0004182 stage IVb bladder cancer oio:hasRelatedSynonym oio:hasExactSynonym MONDO:0004192 urethra cancer oio:hasRelatedSynonym oio:hasExactSynonym cancer of urethra DOID:734 urethra cancer DOID:734, MONDO:patterns/cancer updated cancer of urethra DOID:734 DOID MONDO:0004198 testicular yolk sac tumor, solid pattern oio:hasExactSynonym oio:hasRelatedSynonym solid pattern testicular yolk sac tumor DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 updated solid pattern testicular yolk sac tumor DOID:7360 DOID MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym L-cell glucagon-like peptide producing tumor DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 updated L-cell glucagon-like peptide producing tumor DOID:7402 DOID -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma DOID:3304 germinoma NCIT:C8712 updated germinoma DOID:3304 DOID MONDO:0004221 uterine corpus perivascular epithelioid cell tumor oio:hasExactSynonym oio:hasRelatedSynonym uterus perivascular epithelioid cell tumor DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 updated uterus perivascular epithelioid cell tumor DOID:7437 DOID MONDO:0004227 epididymal adenomatoid tumor oio:hasRelatedSynonym oio:hasExactSynonym adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor DOID:745, NCIT:C6382 updated adenomatoid neoplasm of the epididymis DOID:745 DOID -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelioma DOID:2645 benign mesothelioma NCIT:C3762 updated benign mesothelioma DOID:2645 DOID -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium benign tumor of Mesothelium DOID:2645 benign mesothelioma NCIT:C3762 updated benign tumor of mesothelium DOID:2645 DOID MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma DOID:7497 brain ependymoma DOID:7497 updated brain ependymoma DOID:7497 DOID -MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma DOID:0080890 supratentorial ependymoma NCIT:C9043 updated supratentorial ependymoma DOID:0080890 DOID MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis DOID:7511 breast intraductal papillomatosis DOID:7511 updated breast intraductal papillomatosis DOID:7511 DOID MONDO:0004258 female orgasmic disorder oio:hasExactSynonym oio:hasRelatedSynonym inhibited female orgasm DOID:7518 inhibited female orgasm DOID:7518 updated inhibited female orgasm DOID:7518 DOID -MONDO:0004259 endocervical carcinoma oio:hasExactSynonym oio:hasNarrowSynonym endocervical adenocarcinoma DOID:0050940 endocervical adenocarcinoma NCIT:C28327 updated endocervical adenocarcinoma DOID:0050940 DOID MONDO:0004272 urinary bladder tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym bladder tuberculosis DOID:754 bladder tuberculosis DOID:754 updated bladder tuberculosis DOID:754 DOID MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 updated infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements DOID:7553 DOID MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant oio:hasExactSynonym oio:hasNarrowSynonym infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 updated infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements DOID:7553 DOID @@ -27513,7 +27151,6 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma DOID:7578 breast scirrhous carcinoma DOID:7578 updated breast scirrhous carcinoma DOID:7578 DOID MONDO:0004289 glottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma DOID:7583, NCIT:C8189 updated verrucous carcinoma of glottis DOID:7583 DOID MONDO:0004292 supraglottis verrucous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma NCIT:C8191, DOID:7586 updated verrucous carcinoma of the supraglottis DOID:7586 DOID -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 updated embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 DOID MONDO:0004311 carcinoma of Cowper glands oio:hasExactSynonym oio:hasRelatedSynonym Cowper gland carcinoma DOID:7632 Cowper gland carcinoma DOID:7632 updated Cowper gland carcinoma DOID:7632 DOID MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin DOID:7643 acantholytic squamous cell skin carcinoma DOID:7643 updated acantholytic squamous cell carcinoma of skin DOID:7643 DOID MONDO:0004320 adult infiltrating astrocytic neoplasm oio:hasExactSynonym oio:hasNarrowSynonym adult infiltrating astrocytoma adult infiltrating astrocytoma adult Infiltrating astrocytoma DOID:7656 adult infiltrating astrocytic neoplasm MTH:NOCODE, DOID:7656 updated adult infiltrating astrocytoma DOID:7656 DOID @@ -27522,18 +27159,7 @@ MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym pancreatic ACTH hormone producing tumour DOID:7697 pancreatic ACTH hormone producing tumor http://purl.obolibrary.org/obo/OMO_0003005 updated pancreatic ACTH hormone producing tumour DOID:7697 DOID MONDO:0004336 rectal signet ring cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym rectum signet ring adenocarcinoma DOID:7707 rectum signet ring adenocarcinoma DOID:7707 updated rectum signet ring adenocarcinoma DOID:7707 DOID MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 updated mixed ductal-endocrine carcinoma DOID:7716 DOID -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma NCIT:C8090 updated malignant hemangiopericytoma DOID:264 DOID -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C8094 updated malignant peripheral nerve sheath tumor DOID:5940 DOID -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma DOID:4656 extraocular retinoblastoma NCIT:C9048 updated extraocular retinoblastoma DOID:4656 DOID -MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma DOID:7497 brain ependymoma NCIT:C9372 updated brain ependymoma DOID:7497 DOID -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia DOID:1240 leukemia NCIT:C4989 updated leukemia DOID:1240 DOID -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma DOID:5503 spinal cord ependymoma NCIT:C27399 updated spinal cord ependymoma DOID:5503 DOID -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma DOID:5058 rhabdoid meningioma NCIT:C8293 updated papillary meningioma DOID:5058 DOID -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma DOID:3357 extraosseous osteosarcoma NCIT:C7925 updated extraskeletal osteosarcoma DOID:3357 DOID MONDO:0004379 female breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of female breast DOID:7843 female breast carcinoma NCIT:C2918, DOID:7843 updated carcinoma of female breast DOID:7843 DOID -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 updated follicular dendritic cell sarcoma DOID:6262 DOID -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma DOID:7849 updated follicular dendritic cell sarcoma DOID:6262 DOID -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C5792 updated central nervous system germinoma DOID:4438 DOID MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym intracranial chondrosarcoma DOID:7903 intracranial chondrosarcoma DOID:7903 updated intracranial chondrosarcoma DOID:7903 DOID MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern oio:hasExactSynonym oio:hasRelatedSynonym glandular-alveolar pattern testicular yolk sac tumor DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 updated glandular-alveolar pattern testicular yolk sac tumor DOID:7930 DOID MONDO:0004423 central nervous system extraskeletal osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym central nervous system osteosarcoma DOID:7994 central nervous system osteosarcoma DOID:7994 updated central nervous system osteosarcoma DOID:7994 DOID @@ -27560,20 +27186,14 @@ MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the pelvic region and thigh hemarthrosis of the pelvic region and thigh Hemarthrosis of the pelvic region and thigh DOID:801 hemarthrosis DOID:801 updated hemarthrosis of the pelvic region and thigh DOID:801 DOID MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of the upper arm hemarthrosis of the upper arm Hemarthrosis of the upper arm DOID:801 hemarthrosis DOID:801 updated hemarthrosis of the upper arm DOID:801 DOID MONDO:0004431 hemarthrosis oio:hasExactSynonym oio:hasNarrowSynonym hemarthrosis of upper arm hemarthrosis of upper arm Hemarthrosis of upper arm DOID:801 hemarthrosis DOID:801 updated hemarthrosis of upper arm DOID:801 DOID -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma central nervous system germinoma DOID:4438 central nervous system germinoma NCIT:C27406 updated Central nervous system germinoma DOID:4438 DOID MONDO:0004453 testicular yolk sac tumor, myxomatous pattern oio:hasExactSynonym oio:hasRelatedSynonym myxomatous pattern testicular yolk sac tumor DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 updated myxomatous pattern testicular yolk sac tumor DOID:8081 DOID MONDO:0004468 anal canal Paget disease oio:hasRelatedSynonym oio:hasExactSynonym Paget's disease of anal canal DOID:8119 anal canal Paget's disease DOID:8119, NCIT:C7477 updated Paget's disease of anal canal DOID:8119 DOID MONDO:0004471 bacterial arthritis oio:hasExactSynonym oio:hasBroadSynonym infectious arthritis DOID:813 septic arthritis DOID:813 updated infectious arthritis DOID:813 DOID -MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasBroadSynonym OAT DOID:0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:OAT updated OAT DOID:0070311 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid Hurthle cell adenoma DOID:8162 thyroid Hurthle cell adenoma NCIT:C6042 updated thyroid Hurthle cell adenoma DOID:8162 DOID -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma DOID:3594 choriocarcinoma ONCOTREE:UCCA updated choriocarcinoma DOID:3594 DOID MONDO:0004493 testicular yolk sac tumor, papillary pattern oio:hasExactSynonym oio:hasRelatedSynonym papillary pattern testicular yolk sac tumor DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 updated papillary pattern testicular yolk sac tumor DOID:8193 DOID MONDO:0004494 testicular yolk sac tumor, hepatoid pattern oio:hasExactSynonym oio:hasRelatedSynonym hepatoid pattern testicular yolk sac tumor DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 updated hepatoid pattern testicular yolk sac tumor DOID:8195 DOID -MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer DOID:7696 lung hilum cancer NCIT:C7454 updated lung hilum cancer DOID:7696 DOID MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis DOID:8243 meningeal melanomatosis NCIT:C6891, DOID:8243 updated leptomeningeal melanomatosis DOID:8243 DOID -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma DOID:6193 epithelioid sarcoma NCIT:C7944 updated epithelioid sarcoma DOID:6193 DOID MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell variant cervical adenosquamous carcinoma DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 updated glassy cell variant cervical adenosquamous carcinoma DOID:8361 DOID -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor NCIT:C7814 updated malignant peripheral nerve sheath tumor DOID:5940 DOID MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis DOID:8408 Meckel's diverticulitis NCIT:C27300 updated Meckel's diverticulitis DOID:8408 DOID MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma DOID:8419 colloid adenoma DOID:8419 updated colloid adenoma DOID:8419 DOID MONDO:0004601 ulcer of lower limbs oio:hasExactSynonym oio:hasNarrowSynonym Ulcer of ankle DOID:8529 ulcer of lower limbs DOID:8529 updated Ulcer of ankle DOID:8529 DOID @@ -27584,7 +27204,6 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym orophar MONDO:0004609 herpes simplex infectious disease oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex DOID:8566 herpes simplex updated herpes simplex DOID:8566 DOID MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym oio:hasNarrowSynonym acute intestinal vascular insufficiency DOID:8590 acute vascular insufficiency of intestine DOID:8590 updated acute intestinal vascular insufficiency DOID:8590 DOID MONDO:0004627 duodenitis oio:hasExactSynonym oio:hasNarrowSynonym hemorrhagic duodenitis hemorrhagic duodenitis Hemorrhagic duodenitis DOID:8643 duodenitis MTH:NOCODE, DOID:8643 updated hemorrhagic duodenitis DOID:8643 DOID -MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasRelatedSynonym tongue carcinoma DOID:0080641 tongue carcinoma GARD:0007779 updated tongue carcinoma DOID:0080641 DOID MONDO:0004633 Hodgkin's lymphoma, mixed cellularity oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's disease, mixed cellularity DOID:8654 Hodgkin's lymphoma, mixed cellularity DOID:8654 updated Hodgkin's disease, mixed cellularity DOID:8654 DOID MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym enterocolitis necrotizing enterocolitis necrotizing ENTEROCOLITIS NECROTIZING DOID:8677 perinatal necrotizing enterocolitis DOID:8677, MTH:NOCODE updated enterocolitis necrotizing DOID:8677 DOID MONDO:0004639 perinatal necrotizing enterocolitis oio:hasExactSynonym oio:hasBroadSynonym necrotizing enterocolitis DOID:8677 perinatal necrotizing enterocolitis DOID:8677 updated necrotizing enterocolitis DOID:8677 DOID @@ -27595,7 +27214,6 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor DOID:8731 carotid body cancer NCIT:C3574 updated malignant carotid body tumor DOID:8731 DOID MONDO:0004664 helminthiasis oio:hasExactSynonym oio:hasRelatedSynonym worm infection DOID:883 parasitic helminthiasis infectious disease DOID:883 updated worm infection DOID:883 DOID MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's lymphoma, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 updated Hodgkin's lymphoma, nodular sclerosis DOID:8838 DOID -MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym dermatomycosis DOID:1563 dermatomycosis MESH:D003881 updated dermatomycosis DOID:1563 DOID MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm DOID:8913 dermatophytosis Wikipedia:Dermatophytosis updated ringworm DOID:8913 DOID MONDO:0004684 plantar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym plantar fascial fibromatosis DOID:8936 plantar fascial fibromatosis DOID:8936 updated plantar fascial fibromatosis DOID:8936 DOID MONDO:0004687 severe nonproliferative diabetic retinopathy oio:hasExactSynonym oio:hasRelatedSynonym severe npdr severe npdr Severe NPDR DOID:8946 severe nonproliferative diabetic retinopathy updated severe npdr DOID:8946 DOID @@ -27609,7 +27227,6 @@ MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0004712 herpes simplex dermatitis oio:hasExactSynonym oio:hasNarrowSynonym herpes simplex virus eyelid dermatitis DOID:9123 eczema herpeticum DOID:9123 updated herpes simplex virus eyelid dermatitis DOID:9123 DOID MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver DOID:918 liver inflammatory pseudotumor DOID:918, NCIT:C5858 updated inflammatory pseudotumor of the liver DOID:918 DOID MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor DOID:918 liver inflammatory pseudotumor NCIT:C5858 updated liver inflammatory pseudotumor DOID:918 DOID -MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym ondine syndrome ondine syndrome Ondine syndrome DOID:0060731 congenital central hypoventilation syndrome MESH:D020182 updated ondine syndrome DOID:0060731 DOID MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym central sleep apnea DOID:9220 central sleep apnea MESH:D020182 updated central sleep apnea DOID:9220 DOID MONDO:0004731 central sleep apnea syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary central sleep apnea DOID:9220 central sleep apnea DOID:9220 updated primary central sleep apnea DOID:9220 DOID MONDO:0004731 central sleep apnea syndrome oio:hasRelatedSynonym oio:hasExactSynonym central sleep apnea syndrome DOID:9220 central sleep apnea MESH:D020182, NCIT:C27169, DOID:9220 updated central sleep apnea syndrome DOID:9220 DOID @@ -27622,8 +27239,6 @@ MONDO:0004751 disease of orbital part of eye adnexa oio:hasExactSynonym oio:hasR MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis DOID:9312 chronic ethmoiditis DOID:9312 updated chronic ethmoiditis DOID:9312 DOID MONDO:0004769 orbital pseudotumor oio:hasExactSynonym oio:hasRelatedSynonym orbital myositis DOID:9369 orbital plasma cell granuloma DOID:9369, ICD9CM:376.12 updated orbital myositis DOID:9369 DOID MONDO:0004773 iridocyclitis oio:hasExactSynonym oio:hasNarrowSynonym primary iridocyclitis DOID:9383 iridocyclitis DOID:9383 updated primary iridocyclitis DOID:9383 DOID -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis DOID:3437 laryngitis NCIT:C26688 updated laryngitis DOID:3437 DOID -MONDO:0004784 allergic asthma oio:hasExactSynonym oio:hasRelatedSynonym atopic asthma DOID:0080811 extrinsic asthma DOID:9415 updated atopic asthma DOID:0080811 DOID MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis DOID:9471 meningitis DOID:9471 updated meningitis DOID:9471 DOID MONDO:0004815 osteosclerotic plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym osteosclerotic myeloma DOID:9541 osteosclerotic myeloma DOID:9541 updated osteosclerotic myeloma DOID:9541 DOID MONDO:0004817 non-secretory plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym non-secretory myeloma DOID:9547 non-secretory myeloma DOID:9547 updated non-secretory myeloma DOID:9547 DOID @@ -27631,19 +27246,13 @@ MONDO:0004829 Krukenberg carcinoma oio:hasRelatedSynonym oio:hasExactSynonym Kru MONDO:0004845 aphthous stomatitis oio:hasExactSynonym oio:hasRelatedSynonym canker sore canker sore Canker sore DOID:9663 aphthous stomatitis DOID:9663 updated canker sore DOID:9663 DOID MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal ophthalmia neonatorum DOID:9699 ophthalmia neonatorum DOID:9699 updated gonococcal ophthalmia neonatorum DOID:9699 DOID MONDO:0004889 total central choroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym central gyrate choroidal dystrophy DOID:9820 central gyrate choroidal dystrophy updated central gyrate choroidal dystrophy DOID:9820 DOID -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata DOID:986 alopecia areata NCIT:C50575 updated alopecia areata DOID:986 DOID -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis DOID:950 dacryoadenitis MESH:D003607 updated dacryoadenitis DOID:950 DOID MONDO:0004947 B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasRelatedSynonym precursor B lymphoblastic lymphoma/leukemia DOID:0080630 B-lymphoblastic leukemia/lymphoma DOID:7061 updated precursor B lymphoblastic lymphoma/leukemia DOID:0080630 DOID -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym CLL DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151400, MONDO:Lexical, NCIT:C3163, DOID:1040 updated CLL DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasRelatedSynonym oio:hasExactSynonym B-cell chronic lymphoid leukemia DOID:1040 chronic lymphocytic leukemia DOID:1040, NCIT:C3163, Orphanet:67038 updated B-cell chronic lymphoid leukemia DOID:1040 DOID -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer DOID:10534 stomach cancer NCIT:C4911 updated gastric cancer DOID:10534 DOID -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer DOID:10534 stomach cancer NCIT:C4911 updated stomach cancer DOID:10534 DOID MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym Ca fundus - stomach DOID:10538 gastric fundus cancer DOID:10538 updated Ca fundus - stomach DOID:10538 DOID MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer DOID:10538 gastric fundus cancer DOID:10538 updated gastric fundus cancer DOID:10538 DOID MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of fundus of stomach DOID:10538 gastric fundus cancer ICD9CM:151.3, DOID:10538, MONDO:patterns/cancer updated malignant neoplasm of fundus of stomach DOID:10538 DOID MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of fundus of stomach DOID:10538 gastric fundus cancer DOID:10538 updated malignant tumor of fundus of stomach DOID:10538 DOID MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach DOID:5517 stomach carcinoma NCIT:C4911, DOID:5517 updated cancer of the stomach DOID:5517 DOID -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach cancer of Fundus of stomach DOID:6700 gastric fundus carcinoma MONDO:patterns/cancer updated cancer of fundus of stomach DOID:6700 DOID MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin's sarcoma DOID:8567 Hodgkin's lymphoma DOID:8567, ICD9CM:201.2 updated Hodgkin's sarcoma DOID:8567 DOID MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage I subdiaphragmatic Hodgkin lymphoma stage I subdiaphragmatic Hodgkin lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma NCIT:C5012, DOID:8567 updated stage I subdiaphragmatic Hodgkin lymphoma DOID:8567 DOID MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym oio:hasNarrowSynonym stage II subdiaphragmatic Hodgkin lymphoma stage II subdiaphragmatic Hodgkin lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma DOID:8567 Hodgkin's lymphoma DOID:8567, NCIT:C5010 updated stage II subdiaphragmatic Hodgkin lymphoma DOID:8567 DOID @@ -27651,13 +27260,7 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oio:hasRel MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion DOID:4029 gastritis DOID:4029 updated acute gastric mucosal erosion DOID:4029 DOID MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastritis erosive gastritis Erosive Gastritis DOID:4029 gastritis DOID:4029 updated erosive gastritis DOID:4029 DOID MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym erosive gastropathy erosive gastropathy Erosive gastropathy DOID:4029 gastritis DOID:4029 updated erosive gastropathy DOID:4029 DOID -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia DOID:1037 lymphoid leukemia NCIT:C3167 updated lymphoblastic leukemia DOID:1037 DOID -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukaemia DOID:1037 lymphoid leukemia http://purl.obolibrary.org/obo/OMO_0003005 updated lymphoblastic leukaemia DOID:1037 DOID -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma DOID:4866 salivary gland adenoid cystic carcinoma GARD:0005743 updated cylindroma DOID:4866 DOID -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma DOID:5675 cribriform carcinoma GARD:0005743 updated cribriform carcinoma DOID:5675 DOID MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym acinar cell adenoma DOID:657 adenoma DOID:657 updated acinar cell adenoma DOID:657 DOID -MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma DOID:0050771 pheochromocytoma NCIT:C3326 updated pheochromocytoma DOID:0050771 DOID -MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym exercise-induced asthma DOID:0080821 exercise-induced bronchoconstriction DOID:2841 updated exercise-induced asthma DOID:0080821 DOID MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma DOID:2841 asthma DOID:2841 updated chronic obstructive asthma DOID:2841 DOID MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with acute exacerbation DOID:2841 asthma DOID:2841 updated chronic obstructive asthma with acute exacerbation DOID:2841 DOID MONDO:0004979 asthma oio:hasExactSynonym oio:hasNarrowSynonym chronic obstructive asthma with status asthmaticus DOID:2841 asthma DOID:2841 updated chronic obstructive asthma with status asthmaticus DOID:2841 DOID @@ -27669,10 +27272,7 @@ MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic de MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive disorder DOID:3312 bipolar disorder NCIT:C34423, DOID:3312 updated manic depressive disorder DOID:3312 DOID MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic disorder DOID:3312 bipolar disorder DOID:3312 updated manic disorder DOID:3312 DOID MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym mixed bipolar disorder DOID:3312 bipolar disorder DOID:3312 updated mixed bipolar disorder DOID:3312 DOID -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 updated bladder cancer DOID:11054 DOID -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym urinary bladder cancer DOID:11054 urinary bladder cancer NCIT:C4912 updated urinary bladder cancer DOID:11054 DOID MONDO:0004988 breast adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of breast DOID:3458 breast adenocarcinoma DOID:3458, NCIT:C5214 updated adenocarcinoma of breast DOID:3458 DOID -MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer DOID:1612 breast cancer NCIT:C4872 updated breast cancer DOID:1612 DOID MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym breast tumor luminal DOID:0060548 luminal breast carcinoma A DOID:0060548 updated breast tumor luminal DOID:0060548 DOID MONDO:0004990 breast tumor luminal A or B oio:hasBroadSynonym oio:hasExactSynonym luminal breast cancer DOID:0060548 luminal breast carcinoma A DOID:0060548 updated luminal breast cancer DOID:0060548 DOID MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym bronchiolo-alveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 updated bronchiolo-alveolar adenocarcinoma DOID:4926 DOID @@ -27682,10 +27282,8 @@ MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynony MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468, NCIT:C3766 updated mesonephroid clear cell carcinoma DOID:4468 DOID MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant DOID:4468 clear cell adenocarcinoma DOID:4468 updated mesonephroma, malignant DOID:4468 DOID MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym water-clear cell carcinoma water-clear cell carcinoma Water-clear cell carcinoma DOID:4468 clear cell adenocarcinoma DOID:4468 updated water-clear cell carcinoma DOID:4468 DOID -MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 updated hypernephroma DOID:4450 DOID MONDO:0005010 coronary artery disorder oio:hasExactSynonym oio:hasNarrowSynonym coronary arteriosclerosis DOID:3393 coronary artery disease DOID:3393 updated coronary arteriosclerosis DOID:3393 DOID MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy DOID:12930 dilated cardiomyopathy DOID:12930 updated primary dilated cardiomyopathy DOID:12930 DOID -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma DOID:0080524 thyroid gland adenocarcinoma MONDO:patterns/location updated thyroid gland adenocarcinoma DOID:0080524 DOID MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular adenocarcinoma DOID:3962 follicular thyroid carcinoma NCIT:C8054 updated follicular adenocarcinoma DOID:3962 DOID MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated DOID:3962 follicular thyroid carcinoma DOID:3962 updated follicular adenocarcinoma, well differentiated DOID:3962 DOID MONDO:0005040 germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym germ cell cancer DOID:2994 germ cell cancer DOID:2994 updated germ cell cancer DOID:2994 DOID @@ -27693,7 +27291,6 @@ MONDO:0005040 germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym germ cel MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension DOID:10763 hypertension DOID:10763 updated hypertension DOID:10763 DOID MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN DOID:10763 hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 updated HTN DOID:10763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005044 hypertensive disorder oio:hasRelatedSynonym oio:hasExactSynonym hypertensive disease DOID:10763 hypertension MTH:NOCODE, DOID:10763 updated hypertensive disease DOID:10763 DOID -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy DOID:0080326 familial hypertrophic cardiomyopathy DOID:11984 updated familial hypertrophic cardiomyopathy DOID:0080326 DOID MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility DOID:5223 infertility DOID:5223 updated infertility DOID:5223 DOID MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular carcinoma DOID:3457 invasive lobular carcinoma DOID:3457 updated lobular carcinoma DOID:3457 DOID MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular carcinoma of the breast DOID:3457 invasive lobular carcinoma DOID:3457 updated lobular carcinoma of the breast DOID:3457 DOID @@ -27737,15 +27334,11 @@ MONDO:0005076 periodontitis oio:hasExactSynonym oio:hasRelatedSynonym periodonto MONDO:0005077 pertussis oio:hasExactSynonym oio:hasBroadSynonym Bordetella infection Bordetella infection bordetella infection DOID:1116 pertussis DOID:1116 updated Bordetella infection DOID:1116 DOID MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 updated toxaemia of pregnancy DOID:10591 DOID MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton DOID:1115 sarcoma NCIT:C3810, DOID:1115 updated tumor of soft tissue and skeleton DOID:1115 DOID -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 DOID:0070088 schizophrenia 12 OMIM:genemap2, OMIM:181500 updated schizophrenia 12 DOID:0070088 DOID -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:181500 updated schizoaffective disorder DOID:5418 DOID MONDO:0005093 skin disorder oio:hasExactSynonym oio:hasNarrowSynonym genodermatosis genodermatosis Genodermatosis DOID:37 skin disease DOID:37 updated genodermatosis DOID:37 DOID MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma DOID:264 hemangiopericytoma DOID:264 updated malignant hemangiopericytoma DOID:264 DOID MONDO:0005097 squamous cell lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma DOID:3907, NCIT:C3493 updated squamous cell carcinoma of lung DOID:3907 DOID MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma DOID:418 systemic scleroderma DOID:418 updated Scleroderma DOID:418 DOID -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Scleroderma scleroderma DOID:419 scleroderma DOID:418 updated Scleroderma DOID:419 DOID MONDO:0005101 ulcerative colitis oio:hasExactSynonym oio:hasNarrowSynonym left-sided ulcerative colitis left-sided ulcerative colitis Left-sided ulcerative colitis DOID:8577 ulcerative colitis DOID:8577 updated left-sided ulcerative colitis DOID:8577 DOID -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3153 lipomatosis DOID:3315 updated multiple lipomatosis DOID:3153 DOID MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous neoplasm DOID:3315 lipoma DOID:3315 updated lipomatous neoplasm DOID:3315 DOID MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous tumor DOID:3315 lipoma NCIT:C4248, DOID:3315 updated lipomatous tumor DOID:3315 DOID MONDO:0005106 lipoma oio:hasRelatedSynonym oio:hasNarrowSynonym multiple lipomatosis DOID:3315 lipoma DOID:3315 updated multiple lipomatosis DOID:3315 DOID @@ -27754,41 +27347,27 @@ MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple' MONDO:0005118 human granulocytic ehrlichiosis oio:hasRelatedSynonym oio:hasBroadSynonym HGE DOID:0050025 human granulocytic anaplasmosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000071, DOID:0050025 updated HGE DOID:0050025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0005119 anthrax infection oio:hasExactSynonym oio:hasRelatedSynonym anthrax disease DOID:7427 anthrax disease DOID:7427 updated anthrax disease DOID:7427 DOID MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix DOID:2893 cervix carcinoma DOID:2893, NCIT:C9039 updated cancer of cervix DOID:2893 DOID -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervical cancer DOID:4362 cervical cancer NCIT:C9039 updated cervical cancer DOID:4362 DOID -MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cervix cancer DOID:4362 cervical cancer NCIT:C9039 updated cervix cancer DOID:4362 DOID MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym ectoparasitic disease ectoparasitic disease Ectoparasitic disease DOID:1398 parasitic infectious disease DOID:1398 updated ectoparasitic disease DOID:1398 DOID MONDO:0005135 parasitic infectious disease oio:hasExactSynonym oio:hasNarrowSynonym parasitemia DOID:1398 parasitic infectious disease DOID:1398 updated parasitemia DOID:1398 DOID MONDO:0005137 nutritional disorder oio:hasExactSynonym oio:hasRelatedSynonym nutrition disease DOID:374 nutrition disease DOID:374 updated nutrition disease DOID:374 DOID -MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer DOID:1324 lung cancer NCIT:C4878 updated lung cancer DOID:1324 DOID MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of lung DOID:3905 lung carcinoma NCIT:C4878, DOID:3905 updated cancer of lung DOID:3905 DOID MONDO:0005138 lung carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of lung DOID:3905 lung carcinoma MONDO:patterns/carcinoma, NCIT:C4878, DOID:3905 updated carcinoma of lung DOID:3905 DOID -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer DOID:2394 ovarian cancer NCIT:C4908 updated ovarian cancer DOID:2394 DOID -MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis DOID:6950 combat disorder NCIT:C3389 updated combat neurosis DOID:6950 DOID MONDO:0005150 age-related macular degeneration oio:hasExactSynonym oio:hasRelatedSynonym age related macular degeneration DOID:10871 age related macular degeneration DOID:10871 updated age related macular degeneration DOID:10871 DOID MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis DOID:5082 liver cirrhosis DOID:5082 updated liver cirrhosis DOID:5082 DOID -MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer DOID:10283 prostate cancer NCIT:C4863 updated prostate cancer DOID:10283 DOID MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate DOID:10286 prostate carcinoma NCIT:C4863 updated cancer of prostate DOID:10286 DOID MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic tumor DOID:3355 fibrosarcoma DOID:3355, NCIT:C7075 updated fibrocytic tumor DOID:3355 DOID MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cell type benign neoplasm DOID:0060084 cell type benign neoplasm DOID:0060084 updated cell type benign neoplasm DOID:0060084 DOID MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym organ system benign neoplasm DOID:0060085 organ system benign neoplasm DOID:0060085 updated organ system benign neoplasm DOID:0060085 DOID MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis DOID:8866 actinic keratosis DOID:8866 updated Senile hyperkeratosis DOID:8866 DOID MONDO:0005181 progressive external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym chronic progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 updated chronic progressive external ophthalmoplegia DOID:12558 DOID -MONDO:0005192 exocrine pancreatic carcinoma oio:hasExactSynonym oio:hasBroadSynonym pancreatic cancer DOID:1793 pancreatic cancer NCIT:C3850 updated pancreatic cancer DOID:1793 DOID MONDO:0005192 exocrine pancreatic carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym exocrine cancer DOID:4905 pancreatic carcinoma DOID:4905, NCIT:C3850 updated exocrine cancer DOID:4905 DOID MONDO:0005201 restrictive cardiomyopathy oio:hasRelatedSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy DOID:397 restrictive cardiomyopathy DOID:397 updated familial restrictive cardiomyopathy DOID:397 DOID -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym kidney cancer DOID:263 kidney cancer NCIT:C9384 updated kidney cancer DOID:263 DOID -MONDO:0005206 renal carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cancer DOID:263 kidney cancer NCIT:C9384 updated renal cancer DOID:263 DOID -MONDO:0005215 vulvar carcinoma oio:hasExactSynonym oio:hasBroadSynonym vulva cancer DOID:1245 vulva cancer NCIT:C4866 updated vulva cancer DOID:1245 DOID MONDO:0005215 vulvar carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of vulva DOID:1294 vulva carcinoma NCIT:C4866, DOID:1294 updated carcinoma of vulva DOID:1294 DOID -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma DOID:0070475 SMARCB1-deficient renal medullary carcinoma DOID:4464, NCIT:C7572 updated renal medullary carcinoma DOID:0070475 DOID MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma renal Medullary carcinoma DOID:4464 collecting duct carcinoma DOID:4464, NCIT:C7572 updated renal medullary carcinoma DOID:4464 DOID MONDO:0005229 bacterial infectious disease with sepsis oio:hasExactSynonym oio:hasRelatedSynonym bacterial sepsis DOID:0040085 bacterial sepsis DOID:0040085 updated bacterial sepsis DOID:0040085 DOID MONDO:0005231 hepatitis C virus infection oio:hasExactSynonym oio:hasNarrowSynonym chronic hepatitis C DOID:1883 hepatitis C DOID:1883 updated chronic hepatitis C DOID:1883 DOID MONDO:0005240 kidney disorder oio:hasExactSynonym oio:hasRelatedSynonym nephropathy DOID:557 kidney disease DOID:557 updated nephropathy DOID:557 DOID -MONDO:0005244 peripheral neuropathy oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy DOID:574 peripheral nervous system disease https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20, DOID:870 updated peripheral neuropathy DOID:574 DOID MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia DOID:552 pneumonia DOID:552 updated acute pneumonia DOID:552 DOID -MONDO:0005258 autism spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym atypical autism DOID:0060042 atypical autism DOID:0060042 updated atypical autism DOID:0060042 DOID -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder DOID:0060041 autism spectrum disorder OMIM:209850 updated autism spectrum disorder DOID:0060041 DOID MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder DOID:12849 autistic disorder OMIM:209850 updated autistic disorder DOID:12849 DOID MONDO:0005264 transient ischemic attack oio:hasExactSynonym oio:hasRelatedSynonym transient cerebral ischemia DOID:224 transient cerebral ischemia DOID:224 updated transient cerebral ischemia DOID:224 DOID MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym allergic hypersensitivity disease DOID:1205 allergic disease DOID:1205 updated allergic hypersensitivity disease DOID:1205 DOID @@ -27796,7 +27375,6 @@ MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hyperse MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 updated serous carcinoma DOID:3114 DOID MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma DOID:3114 serous cystadenocarcinoma DOID:3114 updated serous cystadenocarcinoma DOID:3114 DOID MONDO:0005291 brain aneurysm oio:hasExactSynonym oio:hasRelatedSynonym intracranial aneurysm DOID:10941 intracranial aneurysm DOID:10941 updated intracranial aneurysm DOID:10941 DOID -MONDO:0005296 sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym mixed sleep apnea DOID:0080302 mixed sleep apnea MESH:D012891 updated mixed sleep apnea DOID:0080302 DOID MONDO:0005297 urethritis oio:hasExactSynonym oio:hasNarrowSynonym Nongonococcal urethritis DOID:1343 urethritis DOID:1343 updated Nongonococcal urethritis DOID:1343 DOID MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym chronic renal failure syndrome DOID:784 chronic kidney disease DOID:784 updated chronic renal failure syndrome DOID:784 DOID MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis DOID:2377 multiple sclerosis DOID:2377 updated generalized multiple sclerosis DOID:2377 DOID @@ -27815,15 +27393,12 @@ MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' d MONDO:0005371 mood disorder oio:hasExactSynonym oio:hasNarrowSynonym episodic mood disorder DOID:3324 mood disorder updated episodic mood disorder DOID:3324 DOID MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym bone marrow cancer DOID:4960 bone marrow cancer DOID:4960 updated bone marrow cancer DOID:4960 DOID MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor malignant bone Marrow tumor DOID:4960 bone marrow cancer DOID:4960 updated malignant bone marrow tumor DOID:4960 DOID -MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis DOID:2527 nephrosis NCIT:C34845 updated nephrosis DOID:2527 DOID MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym depressive neurosis DOID:4964 neurotic disorder DOID:4964, MTH:NOCODE updated depressive neurosis DOID:4964 DOID MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression DOID:4964 neurotic disorder DOID:4964 updated neurotic depression DOID:4964 DOID MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression reactive type neurotic depression reactive type Neurotic depression reactive type DOID:4964 neurotic disorder DOID:4964 updated neurotic depression reactive type DOID:4964 DOID MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depressive state neurotic depressive state Neurotic depressive state DOID:4964 neurotic disorder DOID:4964 updated neurotic depressive state DOID:4964 DOID MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym reactive depression DOID:4964 neurotic disorder DOID:4964 updated reactive depression DOID:4964 DOID -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease DOID:3443 mammary Paget's disease NCIT:C3292 updated Paget's disease DOID:3443 DOID MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease DOID:0050830 peripheral artery disease DOID:0050830 updated peripheral artery disease DOID:0050830 DOID -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause DOID:10787 premature menopause DOID:5426 updated premature menopause DOID:10787 DOID MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism DOID:5426 primary ovarian insufficiency DOID:5426 updated hypergonadotropic hypogonadism DOID:5426 DOID MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure DOID:5426 primary ovarian insufficiency MESH:D016649, Orphanet:619 updated premature ovarian failure DOID:5426 DOID MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian insufficiency DOID:5426 primary ovarian insufficiency DOID:5426 updated premature ovarian insufficiency DOID:5426 DOID @@ -27843,8 +27418,6 @@ MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium endometrioid carcinoma of Endometrium DOID:2870 endometrial adenocarcinoma NCIT:C6287, DOID:2870 updated endometrioid carcinoma of endometrium DOID:2870 DOID MONDO:0005480 contact dermatitis oio:hasExactSynonym oio:hasNarrowSynonym contact eczema contact eczema Contact eczema DOID:2773 contact dermatitis DOID:2773 updated contact eczema DOID:2773 DOID MONDO:0005485 psychotic disorder oio:hasExactSynonym oio:hasBroadSynonym mental or behavioural disorder DOID:2468 psychotic disorder http://purl.obolibrary.org/obo/OMO_0003005 updated mental or behavioural disorder DOID:2468 DOID -MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer NCIT:C27814 updated bile duct cancer DOID:4606 DOID -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism DOID:0050352 foodborne botulism DOID:11976 updated foodborne botulism DOID:0050352 DOID MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym food poisoning due to Clostridium botulinum food poisoning due to Clostridium botulinum Food poisoning due to Clostridium botulinum DOID:11976 botulism DOID:11976 updated food poisoning due to Clostridium botulinum DOID:11976 DOID MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism DOID:11976 botulism DOID:11976 updated foodborne botulism DOID:11976 DOID MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin Intoxication with Clostridium botulinum toxin DOID:11976 botulism DOID:11976 updated intoxication with Clostridium botulinum toxin DOID:11976 DOID @@ -27864,13 +27437,10 @@ MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym mal MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm malignant renal Pelvis neoplasm DOID:4919 renal pelvis carcinoma DOID:4919, MONDO:patterns/cancer, NCIT:C7525 updated malignant renal pelvis neoplasm DOID:4919 DOID MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer DOID:4919 renal pelvis carcinoma MONDO:patterns/location, DOID:4919 updated renal pelvis cancer DOID:4919 DOID MONDO:0005520 rickets oio:hasExactSynonym oio:hasRelatedSynonym active rickets DOID:10609 rickets DOID:10609 updated active rickets DOID:10609 DOID -MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer DOID:10154 small intestine cancer NCIT:C7724 updated small intestine cancer DOID:10154 DOID MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym cancer of the small bowel DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 updated cancer of the small bowel DOID:4907 DOID MONDO:0005522 small intestine carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym small bowel cancer DOID:4907 small intestine carcinoma DOID:4907, NCIT:C7724 updated small bowel cancer DOID:4907 DOID MONDO:0005528 inborn vitamin metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym vitamin metabolic disorder DOID:0050718 vitamin metabolic disorder DOID:0050718 updated vitamin metabolic disorder DOID:0050718 DOID MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasRelatedSynonym disease by infectious agent DOID:0050117 disease by infectious agent DOID:0050117 updated disease by infectious agent DOID:0050117 DOID -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym enthesopathy DOID:204 enthesopathy MESH:D012216 updated enthesopathy DOID:204 DOID -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease DOID:65 connective tissue disease NCIT:C27204 updated connective tissue disease DOID:65 DOID MONDO:0005557 calcium metabolic disease oio:hasExactSynonym oio:hasRelatedSynonym calcium metabolism disease DOID:10575 calcium metabolism disease DOID:10575 updated calcium metabolism disease DOID:10575 DOID MONDO:0005559 neurodegenerative disease oio:hasExactSynonym oio:hasBroadSynonym degenerative disease DOID:1289 neurodegenerative disease DOID:1289 updated degenerative disease DOID:1289 DOID MONDO:0005560 brain disorder oio:hasExactSynonym oio:hasNarrowSynonym encephalopathy DOID:936 brain disease DOID:936, NCIT:C26920 updated encephalopathy DOID:936 DOID @@ -27879,11 +27449,9 @@ MONDO:0005567 substance withdrawal syndrome oio:hasExactSynonym oio:hasRelatedSy MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym purple toe syndrome DOID:1461 cholesterol embolism DOID:1461 updated purple toe syndrome DOID:1461 DOID MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym trash foot DOID:1461 cholesterol embolism DOID:1461 updated trash foot DOID:1461 DOID MONDO:0005568 cholesterol embolism oio:hasExactSynonym oio:hasNarrowSynonym warfarin blue toe syndrome DOID:1461 cholesterol embolism DOID:1461 updated warfarin blue toe syndrome DOID:1461 DOID -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer DOID:219 colon cancer OMIM:114500 updated colon cancer DOID:219 DOID MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer DOID:5672 large intestine cancer DOID:5672 updated large intestine cancer DOID:5672 DOID MONDO:0005578 arthritic joint disease oio:hasExactSynonym oio:hasNarrowSynonym inflammatory disorder of joint inflammatory disorder of joint Inflammatory disorder of joint DOID:848 arthritis DOID:848 updated inflammatory disorder of joint DOID:848 DOID MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma DOID:3007 breast ductal carcinoma NCIT:C4017 updated duct carcinoma DOID:3007 DOID -MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma DOID:3008 invasive ductal carcinoma NCIT:C4017 updated ductal adenocarcinoma DOID:3008 DOID MONDO:0005614 pancreatic adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of the pancreas DOID:5637 pancreatic adenosquamous carcinoma NCIT:C5721, DOID:5637 updated adenosquamous carcinoma of the pancreas DOID:5637 DOID MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma - solitary myeloma - solitary Myeloma - solitary DOID:3721 plasmacytoma DOID:3721 updated myeloma - solitary DOID:3721 DOID MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym myeloma, solitary myeloma, solitary Myeloma, solitary DOID:3721 plasmacytoma DOID:3721 updated myeloma, solitary DOID:3721 DOID @@ -27898,7 +27466,6 @@ MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute append MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with generalized peritonitis DOID:8337 appendicitis DOID:8337 updated acute appendicitis with generalized peritonitis DOID:8337 DOID MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis with peritoneal abscess DOID:8337 appendicitis DOID:8337 updated acute appendicitis with peritoneal abscess DOID:8337 DOID MONDO:0005664 bartonellosis oio:hasExactSynonym oio:hasRelatedSynonym Rochalimaea infection DOID:11102 bartonellosis MESH:D001474 updated Rochalimaea infection DOID:11102 DOID -MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy DOID:13934 facial paralysis NCIT:C26769 updated facial palsy DOID:13934 DOID MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym poultry worker's lung DOID:13891 bird fancier's lung DOID:13891 updated poultry worker's lung DOID:13891 DOID MONDO:0005690 Caplan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Caplan's syndrome DOID:10326 Caplan's syndrome DOID:10326 updated Caplan's syndrome DOID:10326 DOID MONDO:0005694 cecal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cecal benign neoplasm DOID:1517 cecal benign neoplasm DOID:1517 updated cecal benign neoplasm DOID:1517 DOID @@ -27911,10 +27478,6 @@ MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym hydatidosi MONDO:0005738 echinococcosis oio:hasExactSynonym oio:hasNarrowSynonym pulmonary echinococcosis DOID:1496 echinococcosis DOID:1496 updated pulmonary echinococcosis DOID:1496 DOID MONDO:0005744 yolk sac tumor oio:hasExactSynonym oio:hasNarrowSynonym infantile embryonal carcinoma DOID:1911 endodermal sinus tumor DOID:1911 updated infantile embryonal carcinoma DOID:1911 DOID MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym oio:hasBroadSynonym Madura foot DOID:13078 eumycotic mycetoma ICD9CM:039.4, DOID:13078 updated Madura foot DOID:13078 DOID -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis Elephantiasis elephantiasis DOID:4976 elephantiasis NORD:1082 updated Elephantiasis DOID:4976 DOID -MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis DOID:4976 elephantiasis NCIT:C128360, GARD:0003321 updated elephantiasis DOID:4976 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma NCIT:C9281, DOID:6262 updated follicular Dendritic cell sarcoma DOID:7849 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasRelatedSynonym oio:hasExactSynonym follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma MONDO:patterns/location updated follicular dendritic cell sarcoma DOID:7849 DOID MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type 2 DOID:9210 herpes zoster oticus DOID:9210 updated Ramsay Hunt syndrome type 2 DOID:9210 DOID MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym oio:hasRelatedSynonym Ramsay Hunt syndrome type II DOID:9210 herpes zoster oticus DOID:9210 updated Ramsay Hunt syndrome type II DOID:9210 DOID MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasNarrowSynonym Puumala virus nephropathy DOID:11266 Hantavirus hemorrhagic fever with renal syndrome DOID:11266 updated Puumala virus nephropathy DOID:11266 DOID @@ -27968,11 +27531,9 @@ MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym spleen neopl MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic neoplasm DOID:672 spleen cancer DOID:672, NCIT:C3383 updated splenic neoplasm DOID:672 DOID MONDO:0005972 streptococcal pneumonia oio:hasExactSynonym oio:hasRelatedSynonym Streptococcus pneumonia DOID:0040084 Streptococcus pneumonia DOID:0040084 updated Streptococcus pneumonia DOID:0040084 DOID MONDO:0005993 Trichomonas vaginitis urogenital infection oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas vaginalis trichomoniasis DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 updated Trichomonas vaginalis trichomoniasis DOID:0050269 DOID -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer DOID:1380 endometrial cancer NCIT:C61574 updated endometrial cancer DOID:1380 DOID MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma DOID:3737 verrucous carcinoma DOID:3737 updated warty carcinoma DOID:3737 DOID MONDO:0006011 viral hepatitis oio:hasExactSynonym oio:hasNarrowSynonym viral hepatitis with hepatic coma viral hepatitis with hepatic coma Viral hepatitis with hepatic coma DOID:1884 viral hepatitis DOID:1884 updated viral hepatitis with hepatic coma DOID:1884 DOID MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal cancer DOID:1519 cecum carcinoma NCIT:C3491, DOID:1519 updated cecal cancer DOID:1519 DOID -MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecum cancer DOID:1521 cecum cancer NCIT:C3491 updated cecum cancer DOID:1521 DOID MONDO:0006043 metaplastic breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast metaplastic carcinoma DOID:4680 breast metaplastic carcinoma DOID:4680 updated breast metaplastic carcinoma DOID:4680 DOID MONDO:0006043 metaplastic breast carcinoma oio:hasRelatedSynonym oio:hasExactSynonym metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma NCIT:C5164, DOID:4680 updated metaplastic carcinoma of breast DOID:4680 DOID MONDO:0006047 pancreatic adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma NCIT:C8294, DOID:4074 updated adenocarcinoma of the pancreas DOID:4074 DOID @@ -27987,7 +27548,6 @@ MONDO:0006187 duodenal villous adenoma oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0006189 eccrine porocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine porocarcinoma of skin eccrine porocarcinoma of skin Eccrine porocarcinoma of skin DOID:7566 eccrine porocarcinoma GARD:0007431 updated eccrine porocarcinoma of skin DOID:7566 DOID MONDO:0006196 endometrial serous adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym uterine serous carcinoma DOID:5750 endometrial serous adenocarcinoma NCIT:C27838, DOID:5750 updated uterine serous carcinoma DOID:5750 DOID MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fallopian tube DOID:1963 fallopian tube carcinoma NCIT:C3867, DOID:1963 updated cancer of the fallopian tube DOID:1963 DOID -MONDO:0006206 fallopian tube carcinoma oio:hasExactSynonym oio:hasBroadSynonym fallopian tube cancer DOID:1964 fallopian tube cancer NCIT:C3867 updated fallopian tube cancer DOID:1964 DOID MONDO:0006217 gallbladder adenosquamous carcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma NCIT:C7356, DOID:5627 updated adenosquamous carcinoma of gallbladder DOID:5627 DOID MONDO:0006220 gallbladder squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma NCIT:C9170, DOID:5535 updated squamous cell carcinoma of the gallbladder DOID:5535 DOID MONDO:0006235 granular cell tumor oio:hasExactSynonym oio:hasNarrowSynonym neoplasm of granular cell DOID:2411 granular cell tumor DOID:2411, NCIT:C3474 updated neoplasm of granular cell DOID:2411 DOID @@ -28012,14 +27572,10 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasRelatedSynonym MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma DOID:369 olfactory neuroblastoma NCIT:C3789 updated Esthesioneuroepithelioma DOID:369 DOID MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma DOID:369 olfactory neuroblastoma NCIT:C3789 updated esthesioneuroblastoma DOID:369 DOID MONDO:0006335 ovarian endometrioid adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma DOID:5828, NCIT:C7979 updated endometrioid carcinoma of ovary DOID:5828 DOID -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor DOID:1911 endodermal sinus tumor ONCOTREE:OYST updated yolk sac tumor DOID:1911 DOID -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumour yolk sac tumour Yolk sac tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated yolk sac tumour DOID:1911 DOID -MONDO:0006360 penile carcinoma oio:hasExactSynonym oio:hasBroadSynonym penile cancer DOID:11615 penile cancer NCIT:C9061 updated penile cancer DOID:11615 DOID MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic adenoma carcinoma DOID:297 pleomorphic adenoma carcinoma DOID:297 updated pleomorphic adenoma carcinoma DOID:297 DOID MONDO:0006446 testicular embryonal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma DOID:5680, NCIT:C6341 updated embryonal carcinoma of the testis DOID:5680 DOID MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor DOID:2671 transitional cell carcinoma NCIT:C6783, DOID:2671 updated transitional cell tumor DOID:2671 DOID MONDO:0006474 transitional cell carcinoma oio:hasRelatedSynonym oio:hasBroadSynonym transitional cell neoplasm DOID:2671 transitional cell carcinoma DOID:2671 updated transitional cell neoplasm DOID:2671 DOID -MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer DOID:11819 ureter cancer NCIT:C8993 updated ureter cancer DOID:11819 DOID MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 vaginal carcinosarcoma DOID:136 updated malignant vaginal mixed epithelial and mesenchymal tumor DOID:136 DOID MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed Mullerian tumor DOID:136 vaginal carcinosarcoma DOID:136 updated vaginal malignant mixed Mullerian tumor DOID:136 DOID MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (mullerian) tumor DOID:136 vaginal carcinosarcoma NCIT:C40278 updated vaginal malignant mixed mesodermal (Mullerian) tumor DOID:136 DOID @@ -28033,10 +27589,7 @@ MONDO:0006522 acquired keratosis oio:hasExactSynonym oio:hasRelatedSynonym acqui MONDO:0006540 dyshidrosis oio:hasExactSynonym oio:hasRelatedSynonym pompholyx DOID:9230 pompholyx DOID:9230 updated pompholyx DOID:9230 DOID MONDO:0006558 pemphigoid gestationis oio:hasExactSynonym oio:hasRelatedSynonym pemphigus gestationis DOID:0040098 pemphigus gestationis DOID:0040098 updated pemphigus gestationis DOID:0040098 DOID MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym oio:hasNarrowSynonym acne inversa, familial acne inversa, familial Acne inversa, familial DOID:2280 hidradenitis suppurativa DOID:2280 updated acne inversa, familial DOID:2280 DOID -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina DOID:0070321 miliaria crystallina DOID:11153 updated miliaria crystallina DOID:0070321 DOID MONDO:0006609 seborrheic infantile dermatitis oio:hasExactSynonym oio:hasRelatedSynonym pityriasis capitis pityriasis capitis Pityriasis capitis DOID:8941 seborrheic infantile dermatitis DOID:8941 updated pityriasis capitis DOID:8941 DOID -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasRelatedSynonym bullous skin disease DOID:8502 bullous skin disease MESH:D012872 updated bullous skin disease DOID:8502 DOID -MONDO:0006617 vesiculobullous skin disease oio:hasExactSynonym oio:hasNarrowSynonym subcorneal pustular dermatosis DOID:8508 subcorneal pustular dermatosis MESH:D012872 updated subcorneal pustular dermatosis DOID:8508 DOID MONDO:0006633 acalculous cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute acalculous cholecystitis DOID:2828 acalculous cholecystitis DOID:2828 updated acute acalculous cholecystitis DOID:2828 DOID MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer DOID:660 adrenal cortex cancer NCIT:C9325 updated adrenal cortex cancer DOID:660 DOID MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortical tumors adrenal cortical tumors Adrenal cortical tumors DOID:660 adrenal cortex cancer DOID:660 updated adrenal cortical tumors DOID:660 DOID @@ -28046,8 +27599,6 @@ MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym m MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 updated Laennec's cirrhosis DOID:14018 DOID MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym Laennec's cirrhosis, alcoholic DOID:14018 alcoholic liver cirrhosis DOID:14018 updated Laennec's cirrhosis, alcoholic DOID:14018 DOID MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym oio:hasRelatedSynonym portal cirrhosis portal cirrhosis Portal cirrhosis DOID:14018 alcoholic liver cirrhosis DOID:14018 updated portal cirrhosis DOID:14018 DOID -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis DOID:9383 iridocyclitis Orphanet:280886 updated iridocyclitis DOID:9383 DOID -MONDO:0006652 anterolateral myocardial infarction oio:hasExactSynonym oio:hasRelatedSynonym anteroseptal myocardial infarction DOID:5855 anteroseptal myocardial infarction MESH:D056988 updated anteroseptal myocardial infarction DOID:5855 DOID MONDO:0006673 pituitary gland basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym basophil adenoma DOID:4542 basophil adenoma DOID:4542 updated basophil adenoma DOID:4542 DOID MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm DOID:12759 choroid cancer DOID:12759 updated choroid neoplasm DOID:12759 DOID MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal tumor DOID:12759 choroid cancer NCIT:C2949, DOID:12759 updated choroidal tumor DOID:12759 DOID @@ -28055,12 +27606,9 @@ MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedS MONDO:0006717 cutaneous fibrous histiocytoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic fibroma pleomorphic fibroma Pleomorphic fibroma DOID:4418 cutaneous fibrous histiocytoma DOID:4418 updated pleomorphic fibroma DOID:4418 DOID MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym duodenal benign neoplasm DOID:1737 duodenal benign neoplasm DOID:1737 updated duodenal benign neoplasm DOID:1737 DOID MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum DOID:1737 duodenal benign neoplasm NCIT:C2995, DOID:1737 updated neoplasm of the duodenum DOID:1737 DOID -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma DOID:3896 hidradenoma MESH:D018250, GARD:0005726 updated hidradenoma DOID:3896 DOID MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome DOID:11512 Budd-Chiari syndrome DOID:11512 updated Budd-Chiari syndrome DOID:11512 DOID -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma DOID:2634 cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ updated cystadenoma DOID:2634 DOID MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym apocrine cystadenoma DOID:3893 hidrocystoma DOID:3893 updated apocrine cystadenoma DOID:3893 DOID MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine cystadenoma eccrine cystadenoma Eccrine Cystadenoma DOID:3893 hidrocystoma DOID:3893 updated eccrine cystadenoma DOID:3893 DOID -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis DOID:12731 pars planitis NCIT:C35110 updated pars planitis DOID:12731 DOID MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the ankle and foot DOID:381 arthropathy DOID:381 updated Joint ankylosis of the ankle and foot DOID:381 DOID MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the forearm DOID:381 arthropathy DOID:381 updated Joint ankylosis of the forearm DOID:381 DOID MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym Joint ankylosis of the hand DOID:381 arthropathy DOID:381 updated Joint ankylosis of the hand DOID:381 DOID @@ -28078,39 +27626,30 @@ MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of multiple joints ankylosis of multiple joints Ankylosis of multiple joints DOID:381 arthropathy DOID:381 updated ankylosis of multiple joints DOID:381 DOID MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym ankylosis of upper arm joint DOID:381 arthropathy DOID:381 updated ankylosis of upper arm joint DOID:381 DOID MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasNarrowSynonym infectious arthropathy infectious arthropathy Infectious arthropathy DOID:381 arthropathy DOID:381 updated infectious arthropathy DOID:381 DOID -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism NCIT:C34752 updated hypogonadotropic hypogonadism DOID:0090070 DOID MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism DOID:1921 Klinefelter syndrome NCIT:C34752 updated hypogonadotropic hypogonadism DOID:1921 DOID -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome DOID:13095 vertebral artery insufficiency GARD:0009263 updated Vertebral artery syndrome DOID:13095 DOID MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome lateral medullary syndrome DOID:3522 lateral medullary syndrome GARD:0009263 updated Lateral medullary syndrome DOID:3522 DOID MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasExactSynonym oio:hasRelatedSynonym lethal midline granuloma DOID:9072 lethal midline granuloma DOID:9072 updated lethal midline granuloma DOID:9072 DOID MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change glomerulonephritis nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 lipoid nephrosis ICD9CM:581.3, DOID:10966 updated nephrotic syndrome with lesion of minimal change glomerulonephritis DOID:10966 DOID MONDO:0006835 lipoid nephrosis oio:hasExactSynonym oio:hasRelatedSynonym nephrotic syndrome with lesion of minimal change nephrotic syndrome nephrotic syndrome with lesion of minimal change nephrotic syndrome Nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 lipoid nephrosis DOID:10966 updated nephrotic syndrome with lesion of minimal change nephrotic syndrome DOID:10966 DOID MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma DOID:8683 myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 updated granulocytic sarcoma DOID:8683 DOID -MONDO:0006879 optic papillitis oio:hasExactSynonym oio:hasRelatedSynonym retinal edema DOID:6929 retinal edema MESH:D010211 updated retinal edema DOID:6929 DOID MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym Pancoast's syndrome DOID:8007 Pancoast tumor DOID:8007 updated Pancoast's syndrome DOID:8007 DOID MONDO:0006883 malignant superior sulcus neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pulmonary sulcus tumour DOID:8007 Pancoast tumor http://purl.obolibrary.org/obo/OMO_0003005 updated pulmonary sulcus tumour DOID:8007 DOID MONDO:0006890 parathyroid gland adenoma oio:hasRelatedSynonym oio:hasExactSynonym adenoma of parathyroid DOID:7608 parathyroid adenoma DOID:7608, NCIT:C3916 updated adenoma of parathyroid DOID:7608 DOID MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor malignant Sebaceous tumor DOID:4840 sebaceous carcinoma DOID:4840, NCIT:C8409 updated malignant sebaceous tumor DOID:4840 DOID MONDO:0006972 silo filler disease oio:hasExactSynonym oio:hasRelatedSynonym silo filler's disease silo filler's disease Silo filler's disease DOID:4374 Silo filler's disease DOID:4374 updated silo filler's disease DOID:4374 DOID MONDO:0007004 type III hypersensitivity disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity reaction type III disease DOID:1557 hypersensitivity reaction type III disease DOID:1557 updated hypersensitivity reaction type III disease DOID:1557 DOID -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog Syndrome Aarskog Syndrome Aarskog syndrome DOID:0111824 Aarskog syndrome NORD:702 updated Aarskog Syndrome DOID:0111824 DOID -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome DOID:6683 updated Aarskog syndrome DOID:0111824 DOID -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome DOID:6683 updated faciogenital dysplasia DOID:0111824 DOID -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome DOID:6683 updated Aarskog-Scott syndrome DOID:6683 DOID MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder DOID:10865 abducens nerve palsy NCIT:C27593, DOID:10865 updated VIth nerve disorder DOID:10865 DOID MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease DOID:10865 abducens nerve palsy DOID:10865 updated abducens nerve disease DOID:10865 DOID MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens palsy DOID:10865 abducens nerve palsy OMIM:100200 updated abducens palsy DOID:10865 DOID MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis DOID:0111252 vestibular schwannomatosis NCIT:C3274 updated acoustic neurofibromatosis DOID:0111252 DOID MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type II DOID:0111252 vestibular schwannomatosis GARD:0007193 updated neurofibromatosis type II DOID:0111252 DOID MONDO:0007040 Sakati-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sakati syndrome DOID:0060359 Sakati-Nyhan syndrome GARD:0000115 updated Sakati syndrome DOID:0060359 DOID -MONDO:0007047 punctate palmoplantar keratoderma type III oio:hasExactSynonym oio:hasRelatedSynonym TIA DOID:224 transient cerebral ischemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000133 updated TIA DOID:224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym pituitary adenoma 1, multiple types DOID:0112009 pituitary adenoma 1 OMIM:102200 updated pituitary adenoma 1, multiple types DOID:0112009 DOID MONDO:0007052 growth hormone secreting pituitary adenoma 1 oio:hasExactSynonym oio:hasRelatedSynonym PITA1 DOID:0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102200 updated PITA1 DOID:0112009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Acromicric skeletal dysplasia Acromicric skeletal dysplasia acromicric skeletal dysplasia DOID:0111243 acromicric dysplasia GARD:0000007 updated Acromicric skeletal dysplasia DOID:0111243 DOID MONDO:0007055 Acromicric dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ACMICD DOID:0111243 acromicric dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102370, MONDO:Lexical updated ACMICD DOID:0111243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007057 Acroosteolysis dominant type oio:hasExactSynonym oio:hasRelatedSynonym HJCYS DOID:2736 Hajdu-Cheney syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:102500, MONDO:Lexical updated HJCYS DOID:2736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym SPGF6 DOID:0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:102530 updated SPGF6 DOID:0070167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007060 spermatogenic failure 6 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 OMIM:102530 updated globozoospermia DOID:0111156 DOID MONDO:0007068 adenylosuccinate lyase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adenylosuccinase lyase deficiency DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 updated adenylosuccinase lyase deficiency DOID:0050762 DOID MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-tooth syndrome DOID:0050601 ADULT syndrome OMIM:103285 updated acro-dermato-ungual-lacrimal-Tooth syndrome DOID:0050601 DOID MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I DOID:14080 glucocorticoid-remediable aldosteronism Orphanet:403 updated familial hyperaldosteronism type I DOID:14080 DOID @@ -28118,27 +27657,20 @@ MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:ha MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100 updated keratoderma-hypotrichosis-leukonychia totalis syndrome DOID:0111244 DOID MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 OMIM:104100, MONDO:Lexical updated palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 DOID MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym PPKCA1 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:104100 updated PPKCA1 DOID:0111244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007088 Alzheimer disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease DOID:10652 Alzheimer's disease OMIM:104300 updated Alzheimer disease DOID:10652 DOID MONDO:0007092 amelogenesis imperfecta type 1B oio:hasExactSynonym oio:hasRelatedSynonym AIH2 DOID:0110052 amelogenesis imperfecta type 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110052, OMIM:104500 updated AIH2 DOID:0110052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis DOID:0050637 Finnish type amyloidosis Orphanet:85448 updated AGel amyloidosis DOID:0050637 DOID MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, Meretoja type amyloidosis, Meretoja type AMYLOIDOSIS, MERETOJA TYPE DOID:0050637 Finnish type amyloidosis OMIM:105120 updated amyloidosis, Meretoja type DOID:0050637 DOID MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym CST3-related cerebral amyloid angiopathy DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 updated CST3-related cerebral amyloid angiopathy DOID:0070027 DOID -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy DOID:9246 cerebral amyloid angiopathy OMIM:105150, OMIM:genemap2 updated cerebral amyloid angiopathy DOID:9246 DOID MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 updated amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 DOID:0111246 DOID MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 updated amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam DOID:0111246 DOID MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-PDC ALS-pDC ALS-PDC DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105500 updated ALS-PDC DOID:0111246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical updated FTDALS1 DOID:0060213 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer DOID:0050688 anal canal cancer NCIT:C7489 updated anal canal cancer DOID:0050688 DOID -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma DOID:7173 cloacogenic carcinoma OMIM:105580 updated cloacogenic carcinoma DOID:7173 DOID MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III OMIM:105600 updated anemia with multinucleated erythroblasts DOID:0111399 DOID MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym anaemia with multinucleated erythroblasts DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/OMO_0003005 updated anaemia with multinucleated erythroblasts DOID:0111399 DOID MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDAN3 DOID:0111399 congenital dyserythropoietic anemia type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105600, MONDO:Lexical updated CDAN3 DOID:0111399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 DOID:0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical updated DBA1 DOID:0111895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome DOID:4297 scimitar syndrome DOID:4297 updated scimitar syndrome DOID:4297 DOID -MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 MONDO:Lexical, OMIM:107250 updated anterior segment mesenchymal dysgenesis DOID:0110122 DOID MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Uhl anomaly DOID:0110070 arrhythmogenic right ventricular dysplasia 1 OMIM:107970 updated Uhl anomaly DOID:0110070 DOID -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis Multiplex Congenita DOID:0050646 distal arthrogryposis OMIM:108120 updated arthrogryposis multiplex congenita DOID:0050646 DOID -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita DOID:0080954 arthrogryposis multiplex congenita OMIM:108120 updated arthrogryposis multiplex congenita DOID:0080954 DOID MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 distal arthrogryposis type 5 Orphanet:1154 updated arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 DOID MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA5 DOID:0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108145, MONDO:Lexical updated DA5 DOID:0111608 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis and sensorineural deafness DOID:0111609 distal arthrogryposis type 6 OMIM:108200 updated arthrogryposis and sensorineural deafness DOID:0111609 DOID @@ -28152,7 +27684,6 @@ MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's MONDO:0007191 Behcet disease oio:hasRelatedSynonym oio:hasExactSynonym Behcet's syndrome DOID:13241 Behcet's disease doi:10.1093/jama/9780195176339.003.0016, ICD9CM:136.1, MONDO:LexicalVariant, DOID:13241 updated Behcet's syndrome DOID:13241 DOID MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 biliary cirrhosis, primary, 1 BILIARY CIRRHOSIS, PRIMARY, 1 DOID:0070358 primary biliary cholangitis 1 OMIM:109720, MONDO:Lexical updated biliary cirrhosis, primary, 1 DOID:0070358 DOID MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 DOID:0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical updated PBC1 DOID:0070358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 DOID:0080333 aortic valve disease 1 OMIM:109730, MONDO:Lexical updated aortic valve disease 1 DOID:0080333 DOID MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome NORD:862 updated Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome DOID:14778 DOID MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, epicanthus inversus syndrome blepharophimosis, ptosis, epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 updated blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 DOID MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:Lexical, OMIM:112250 updated diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 DOID @@ -28162,29 +27693,19 @@ MONDO:0007211 brachydactyly-arterial hypertension syndrome oio:hasExactSynonym o MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 brachydactyly type A6 OMIM:112910 updated Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 DOID MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome DOID:0110968 brachydactyly type A6 OMIM:112910 updated OSEBOLD-Remondini syndrome DOID:0110968 DOID MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BOR1 DOID:0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113650 updated BOR1 DOID:0111423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Melnick-Fraser syndrome DOID:14702 branchiootorenal syndrome OMIM:113650 updated Melnick-Fraser syndrome DOID:14702 DOID -MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym branchiootorenal dysplasia DOID:14702 branchiootorenal syndrome OMIM:113650 updated branchiootorenal dysplasia DOID:14702 DOID MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma Bullous ichthyosiform erythroderma DOID:4603 epidermolytic hyperkeratosis OMIM:113800 updated bullous ichthyosiform erythroderma DOID:4603 DOID MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block type IA DOID:0111074 progressive familial heart block type IA DOID:0111074 updated progressive familial heart block type IA DOID:0111074 DOID MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasNarrowSynonym acampomelic campomelic dysplasia acampomelic campomelic dysplasia Acampomelic Campomelic Dysplasia DOID:0050463 campomelic dysplasia OMIM:114290, DOID:0050463 updated acampomelic campomelic dysplasia DOID:0050463 DOID -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 updated CMPD DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007252 Gordon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA3 DOID:0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114300, MONDO:Lexical updated DA3 DOID:0111607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor DOID:1612 breast cancer NCIT:C2910, DOID:1612 updated breast tumor DOID:1612 DOID MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym mammary tumor DOID:1612 breast cancer DOID:1612 updated mammary tumor DOID:1612 DOID MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasNarrowSynonym primary breast cancer DOID:1612 breast cancer DOID:1612 updated primary breast cancer DOID:1612 DOID -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma DOID:0070328 adult hepatocellular carcinoma NCIT:C7956, DOID:684 updated adult hepatoma DOID:0070328 DOID -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma DOID:0070328 adult hepatocellular carcinoma DOID:684 updated adult primary hepatocellular carcinoma DOID:0070328 DOID -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer DOID:3571 liver cancer OMIM:114550 updated liver cancer DOID:3571 DOID MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic bile duct carcinoma DOID:686 liver carcinoma NCIT:C7927, DOID:686 updated liver and intrahepatic bile duct carcinoma DOID:686 DOID -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma DOID:687 hepatoblastoma OMIM:114550 updated hepatoblastoma DOID:687 DOID -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:115150 updated CFC syndrome DOID:0060233 DOID -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome DOID:0060233 cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 updated cardiofaciocutaneous syndrome DOID:0060233 DOID MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 DOID:0111460 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 updated CFC1 DOID:0111460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007270 cardiomyopathy, familial restrictive, 1 oio:hasExactSynonym oio:hasRelatedSynonym RCM1 DOID:0111425 restrictive cardiomyopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:115210, MONDO:Lexical updated RCM1 DOID:0111425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007289 cataract 13 with adult I phenotype oio:hasExactSynonym oio:hasRelatedSynonym cataract 13 with ADULT I phenotype cataract 13 with ADULT I phenotype cataract 13 with adult i phenotype DOID:0110242 cataract 13 with adult i phenotype OMIM:116700 updated cataract 13 with ADULT I phenotype DOID:0110242 DOID MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 immunodeficiency DOID:0110910 leukocyte adhesion deficiency 1 OMIM:116920 updated Lfa1 immunodeficiency DOID:0110910 DOID MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 DOID:0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 updated LAD1 DOID:0110910 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency DOID:6612 leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 updated leukocyte adhesion deficiency DOID:6612 DOID MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 updated ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 DOID MONDO:0007297 ADan amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis cerebellar ataxia, cataract, deafness, and dementia or psychosis Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 OMIM:117300 updated cerebellar ataxia, cataract, deafness, and dementia or psychosis DOID:0070030 DOID MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCM syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 updated CCM syndrome DOID:0111248 DOID @@ -28192,14 +27713,10 @@ MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelated MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebro-costo-mandibular syndrome DOID:0111248 cerebrocostomandibular syndrome GARD:0006026 updated cerebro-costo-mandibular syndrome DOID:0111248 DOID MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym rib Gap defects with micrognathia rib Gap defects with micrognathia rib gap defects with micrognathia DOID:0111248 cerebrocostomandibular syndrome OMIM:117650 updated rib Gap defects with micrognathia DOID:0111248 DOID MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CCMS DOID:0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:117650 updated CCMS DOID:0111248 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome DOID:10426 Klippel-Feil syndrome NORD:1336 updated Klippel-Feil Syndrome DOID:10426 DOID MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIa1 hereditary motor and sensory neuropathy IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 OMIM:118210 updated hereditary motor and sensory neuropathy IIa1 DOID:0110154 DOID MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym HMSN IIA1 HMSN IIa1 HMSN IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118210 updated HMSN IIA1 DOID:0110154 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cleft palate DOID:674 cleft palate OMIM:119540 updated cleft palate DOID:674 DOID MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 updated Cpls syndrome DOID:0080313 DOID MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia DOID:0080313 cleft palate-lateral synechia syndrome OMIM:119550 updated syngnathia DOID:0080313 DOID -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 DOID:0080345 blepharocheilodontic syndrome 1 OMIM:119580 updated blepharocheilodontic syndrome 1 DOID:0080345 DOID -MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS Fcas FCAS DOID:0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100 updated FCAS DOID:0090061 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007349 familial cold autoinflammatory syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FCAS1 DOID:0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120100, MONDO:Lexical updated FCAS1 DOID:0090062 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome papillorenal syndrome DOID:0090006 renal coloboma syndrome MONDO:Lexical, OMIM:120330 updated PAPILLORENAL syndrome DOID:0090006 DOID MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc DOID:11975 coloboma of optic nerve http://purl.obolibrary.org/obo/OMO_0003005 updated coloboma of optic disc DOID:11975 DOID @@ -28208,22 +27725,15 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym uveal coloboma-cleft lip/palate-mental retardation syndrome uveal coloboma-cleft lip/palate-mental retardation syndrome Uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0001440 updated uveal coloboma-cleft lip/palate-mental retardation syndrome DOID:0111249 DOID MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym COB1 DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:120433 updated COB1 DOID:0111249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 DOID:0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 updated COCA1 DOID:0070271 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 updated cone-rod dystrophy DOID:0050572 DOID -MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod retinal dystrophy DOID:0050572 cone-rod dystrophy OMIM:120970 updated cone-rod retinal dystrophy DOID:0050572 DOID MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 congenital contractural arachnodactyly GARD:0005899 updated Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis DOID:0111595 DOID MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arachnodactyly, contractural Beals type DOID:0111595 congenital contractural arachnodactyly GARD:0005899 updated arachnodactyly, contractural Beals type DOID:0111595 DOID MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym contractures, multiple with arachnodactyly DOID:0111595 congenital contractural arachnodactyly GARD:0005899 updated contractures, multiple with arachnodactyly DOID:0111595 DOID MONDO:0007377 granular corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Groenouw type I DOID:0080530 granular corneal dystrophy 1 MONDO:Lexical, OMIM:121900 updated corneal dystrophy, Groenouw type I DOID:0080530 DOID -MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy DOID:0060457 posterior polymorphous corneal dystrophy OMIM:122000 updated posterior polymorphous corneal dystrophy DOID:0060457 DOID MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 DOID:0110855 posterior polymorphous corneal dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 updated PPCD1 DOID:0110855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cornelia DE Lange syndrome 1 Cornelia DE Lange syndrome 1 Cornelia de Lange syndrome 1 DOID:0080505 Cornelia de Lange syndrome 1 OMIM:122470 updated Cornelia DE Lange syndrome 1 DOID:0080505 DOID -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym De Lange syndrome DOID:11725 Cornelia de Lange syndrome OMIM:122470 updated De Lange syndrome DOID:11725 DOID -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis NORD:1915 updated Spondylothoracic Dysplasia DOID:0050568 DOID MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance DOID:0080665 warfarin resistance OMIM:122700 updated warfarin resistance DOID:0080665 DOID MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 5P deletion syndrome chromosome 5P deletion syndrome chromosome 5p deletion syndrome DOID:12580 Cri-Du-Chat syndrome OMIM:123450 updated chromosome 5P deletion syndrome DOID:12580 DOID MONDO:0007411 cutis laxa, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant cutis laxa 1 DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 updated autosomal dominant cutis laxa 1 DOID:0070130 DOID -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial complex III deficiency DOID:0111139 mitochondrial complex III deficiency GARD:0008295 updated mitochondrial complex III deficiency DOID:0111139 DOID -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica DOID:0050201 nephropathia epidemica OMIM:124100 updated nephropathia epidemica DOID:0050201 DOID MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym DEFN DOID:3052 Balkan nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124100, DOID:3052 updated DEFN DOID:3052 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym KHM DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003092 updated KHM DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelatedSynonym VOWNKL DOID:0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:124500 updated VOWNKL DOID:0111339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28233,15 +27743,12 @@ MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption DOID:0111341 primary failure of tooth eruption OMIM:125350 updated dental noneruption DOID:0111341 DOID MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym unerupted second primary molar DOID:0111341 primary failure of tooth eruption OMIM:125350 updated unerupted second primary molar DOID:0111341 DOID MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR DOID:0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 updated DPR DOID:0111342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria DOID:1554 vibratory urticaria MESH:C536612 updated vibratory urticaria DOID:1554 DOID MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermatographia DOID:743 dermatographia GARD:0009480 updated dermatographia DOID:743 DOID MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dyskeratosis congenita 1 DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 updated autosomal dominant dyskeratosis congenita 1 DOID:0070014 DOID MONDO:0007488 Lewy body dementia oio:hasExactSynonym oio:hasRelatedSynonym diffuse Lewy body disease diffuse Lewy body disease Diffuse Lewy body disease DOID:12217 Lewy body dementia Orphanet:1648, OMIM:127750 updated diffuse Lewy body disease DOID:12217 DOID MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia 1 DOID:0060730 torsion dystonia 1 DOID:0060730 updated torsion dystonia 1 DOID:0060730 DOID -MONDO:0007496 dystonia 12 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 12 dystonia 12 Dystonia 12 DOID:0050835 generalized dystonia MONDO:Lexical, Orphanet:71517, OMIM:128235 updated dystonia 12 DOID:0050835 DOID MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Basan syndrome Basan syndrome BASAN syndrome DOID:0080725 BASAN syndrome GARD:0002336, OMIM:129200 updated Basan syndrome DOID:0080725 DOID MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS DOID:0060330 Rapp-Hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 updated RHS DOID:0060330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 DOID:0080401 orofacial cleft 8 OMIM:129400 updated orofacial cleft 8 DOID:0080401 DOID MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A DOID:0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 updated ECTD10A DOID:0111663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type DOID:14693 Clouston syndrome OMIM:129500 updated ectodermal dysplasia 2, Clouston type DOID:14693 DOID MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant isolated ectopia lentis 1 DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 updated autosomal dominant isolated ectopia lentis 1 DOID:0111150 DOID @@ -28252,7 +27759,6 @@ MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasRelatedSyno MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta hypomineralization type DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 updated amelogenesis imperfecta hypomineralization type DOID:0110055 DOID MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta type 3A DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 updated amelogenesis imperfecta type 3A DOID:0110055 DOID MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasBroadSynonym amelogenesis imperfecta type III DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 updated amelogenesis imperfecta type III DOID:0110055 DOID -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple endocrine adenomatosis DOID:3125 multiple endocrine neoplasia NCIT:C3225 updated multiple endocrine adenomatosis DOID:3125 DOID MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 updated autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 DOID MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation OMIM:131960 updated speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering DOID:0111346 DOID MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBSMP DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131960, MONDO:Lexical updated EBSMP DOID:0111346 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28275,34 +27781,23 @@ MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym Ca midd MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of lower third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 updated malignant neoplasm of lower third of oesophagus DOID:5041 DOID MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of middle third of oesophagus DOID:5041 esophageal cancer http://purl.obolibrary.org/obo/OMO_0003005 updated malignant neoplasm of middle third of oesophagus DOID:5041 DOID MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 DOID:0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 updated EVR1 DOID:0111412 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity DOID:13025 retinopathy of prematurity OMIM:133780 updated retinopathy of prematurity DOID:13025 DOID MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 updated myositis ossificans progressiva DOID:13374 DOID -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym familial infiltrative fibromatosis DOID:0111349 hereditary desmoid disease GARD:0001820 updated familial infiltrative fibromatosis DOID:0111349 DOID -MONDO:0007608 desmoid tumor oio:hasExactSynonym oio:hasRelatedSynonym FIF DOID:0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001820 updated FIF DOID:0111349 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome DOID:0081021 Tukel syndrome DOID:0080143 updated Tukel syndrome DOID:0081021 DOID MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 updated mirror-Image polydactyly DOID:0111350 DOID MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym tetramelic mirror-Image polydactyly tetramelic mirror-Image polydactyly tetramelic mirror-image polydactyly DOID:0111350 Laurin-Sandrow syndrome OMIM:135750 updated tetramelic mirror-Image polydactyly DOID:0111350 DOID MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome DOID:0070042 Coffin-Siris syndrome 1 OMIM:135900, DOID:0070042 updated fifth digit syndrome DOID:0070042 DOID -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome DOID:1925 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 updated COFFIN-SIRIS syndrome DOID:1925 DOID -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome fifth digit syndrome Fifth Digit Syndrome DOID:1925 Coffin-Siris syndrome OMIM:135900, DOID:0070042 updated fifth digit syndrome DOID:1925 DOID MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym absence of fingerprints absence of fingerprints Absence of fingerprints DOID:0111357 adermatoglyphia GARD:0012550, DOID:0111357 updated absence of fingerprints DOID:0111357 DOID MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia DOID:0111357 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 updated adermatoglyphia DOID:0111357 DOID MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym ADG DOID:0111357 adermatoglyphia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012550, DOID:0111357 updated ADG DOID:0111357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS DOID:0111358 Floating-Harbor syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 updated FLHS DOID:0111358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 foveal hypoplasia 1 OMIM:136520 updated foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract DOID:0070530 DOID MONDO:0007628 foveal hypoplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FVH1 DOID:0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136520, MONDO:Lexical updated FVH1 DOID:0070530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia DOID:0081044 frontonasal dysplasia OMIM:136760 updated frontonasal dysplasia DOID:0081044 DOID MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 OMIM:136760, MONDO:Lexical updated frontonasal dysplasia 1 DOID:0081045 DOID MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens DOID:11105 fundus albipunctatus DOID:11105, OMIM:136880 updated retinitis punctata albescens DOID:11105 DOID -MONDO:0007648 hereditary diffuse gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym diffuse gastric cancer DOID:0080763 diffuse gastric cancer GARD:0010334 updated diffuse gastric cancer DOID:0080763 DOID MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital fissure of tongue congenital fissure of tongue Congenital fissure of tongue DOID:11514 fissured tongue DOID:11514 updated congenital fissure of tongue DOID:11514 DOID MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym congenital plicated tongue congenital plicated tongue Congenital plicated tongue DOID:11514 fissured tongue DOID:11514 updated congenital plicated tongue DOID:11514 DOID MONDO:0007655 fissured tongue oio:hasExactSynonym oio:hasNarrowSynonym fissure of tongue, congenital fissure of tongue, congenital Fissure of tongue, congenital DOID:11514 fissured tongue DOID:11514, ICD9CM:750.13 updated fissure of tongue, congenital DOID:11514 DOID MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome DOID:11119 Gilles de la Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 updated Gilles de la Tourette syndrome DOID:11119 DOID -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasBroadSynonym iridogoniodysgenesis syndrome DOID:0050786 iridogoniodysgenesis syndrome OMIM:137600 updated iridogoniodysgenesis syndrome DOID:0050786 DOID -MONDO:0007662 anterior segment dysgenesis 4 oio:hasExactSynonym oio:hasRelatedSynonym iridogoniodysgenesis type 2 DOID:0050786 iridogoniodysgenesis syndrome GARD:0003026 updated iridogoniodysgenesis type 2 DOID:0050786 DOID MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 DOID:0111101 maturity-onset diabetes of the young type 5 DOID:0111101 updated maturity-onset diabetes of the young type 5 DOID:0111101 DOID -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis DOID:6906 glomangiomatosis Orphanet:83454 updated glomangiomatosis DOID:6906 DOID MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188 updated autoimmune thyroiditis DOID:7188 DOID MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis DOID:7188 autoimmune thyroiditis DOID:7188, NCIT:C38766 updated lymphocytic thyroiditis DOID:7188 DOID MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, deletion-type Alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:141750 updated Alpha-thalassemia/mental retardation syndrome, deletion-type DOID:0110029 DOID @@ -28315,21 +27810,12 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym oio:hasRelatedSynonym HLP3 MONDO:0007737 humeroradial synostosis oio:hasRelatedSynonym oio:hasExactSynonym humero-radial fusion DOID:0060467 humeroradial synostosis DOID:0060467, Orphanet:3265 updated humero-radial fusion DOID:0060467 DOID MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 updated spondyloepiphyseal dysplasia DOID:0050813 DOID MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 updated spondyloepiphyseal dysplasia with congenital JOINT dislocations DOID:0050813 DOID -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym oio:hasBroadSynonym spondyloepiphyseal dysplasia DOID:0112280 spondyloepiphyseal dysplasia DOID:0050813 updated spondyloepiphyseal dysplasia DOID:0112280 DOID MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym HALP1 DOID:0111369 hyperalphalipoproteinemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143470, MONDO:Lexical updated HALP1 DOID:0111369 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis DOID:0050428 nonepidermolytic palmoplantar keratoderma OMIM:144200 updated tylosis DOID:0050428 DOID -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of kidney DOID:4450 renal cell carcinoma OMIM:144700 updated adenocarcinoma of kidney DOID:4450 DOID -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma DOID:4450 renal cell carcinoma OMIM:144700 updated hypernephroma DOID:4450 DOID -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma DOID:4450 renal cell carcinoma OMIM:genemap2, OMIM:144700 updated renal cell carcinoma DOID:4450 DOID -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym RCC DOID:4450 renal cell carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:144700 updated RCC DOID:4450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007763 nonpapillary renal cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym clear cell renal cell carcinoma DOID:4467 clear cell renal cell carcinoma Orphanet:319276 updated clear cell renal cell carcinoma DOID:4467 DOID MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym melanosis universalis hereditaria DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation OMIM:145250 updated melanosis universalis hereditaria DOID:0111373 DOID MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive oio:hasExactSynonym oio:hasRelatedSynonym FPHH DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:145250 updated FPHH DOID:0111373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym pituitary resistance to thyroid hormone DOID:0111374 selective pituitary thyroid hormone resistance Orphanet:165994 updated pituitary resistance to thyroid hormone DOID:0111374 DOID MONDO:0007805 hypotrichosis 2 oio:hasExactSynonym oio:hasRelatedSynonym HYPT2 DOID:0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146520 updated HYPT2 DOID:0110699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris DOID:1702 ichthyosis vulgaris OMIM:146700 updated ichthyosis vulgaris DOID:1702 DOID -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070523 peeling skin syndrome 4 OMIM:146800 updated ichthyosis exfoliativa DOID:0070523 DOID -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasBroadSynonym oio:hasRelatedSynonym ichthyosis exfoliativa DOID:0070524 peeling skin syndrome 5 OMIM:146800 updated ichthyosis exfoliativa DOID:0070524 DOID MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MARSILI syndrome MARSILI syndrome Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 updated MARSILI syndrome DOID:0081075 DOID MONDO:0007828 indifference to pain, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Marsili syndrome DOID:0081075 Marsili syndrome OMIM:147430 updated Marsili syndrome DOID:0081075 DOID MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ICP1 DOID:0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147480, MONDO:Lexical updated ICP1 DOID:0070228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28339,7 +27825,6 @@ MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS DOID:0111381 IVIC syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 updated OORS DOID:0111381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 updated chromosome 11q deletion syndrome DOID:0111723 DOID MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome DOID:0111723 Jacobsen Syndrome OMIM:147791 updated partial 11q monosomy syndrome DOID:0111723 DOID -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS DOID:14694 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical updated JBS DOID:14694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym Coxo-podo-patellar syndrome Coxo-podo-patellar syndrome coxo-podo-patellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 updated Coxo-podo-patellar syndrome DOID:0111382 DOID MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 ischiocoxopodopatellar syndrome GARD:0003030 updated congenital coxa vara, patella aplasia and tarsal synostosis DOID:0111382 DOID MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ischiocoxopodopatellar syndrome DOID:0111382 ischiocoxopodopatellar syndrome OMIM:147891 updated ischiocoxopodopatellar syndrome DOID:0111382 DOID @@ -28354,7 +27839,6 @@ MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome oio:hasExac MONDO:0007858 palmoplantar keratoderma, punctate type 1A oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type 1A DOID:0080214 punctate palmoplantar keratoderma type I DOID:0080214 updated punctate palmoplantar keratoderma type 1A DOID:0080214 DOID MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris striata 1 DOID:0081108 keratosis palmoplantaris striata 1 OMIM:148700 updated keratosis palmoplantaris striata 1 DOID:0081108 DOID MONDO:0007860 focal palmoplantar and gingival keratoderma oio:hasExactSynonym oio:hasRelatedSynonym focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 focal palmoplantar and gingival keratosis OMIM:148730 updated focal palmoplantar and gingival hyperkeratosis syndrome DOID:0070553 DOID -MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kok disease DOID:0060695 hyperekplexia OMIM:149400 updated Kok disease DOID:0060695 DOID MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia DOID:0080833 laryngomalacia OMIM:150280 updated laryngomalacia DOID:0080833 DOID MONDO:0007885 Legg-Calve-Perthes disease oio:hasRelatedSynonym oio:hasExactSynonym Legg-Calve-Perthes symptom DOID:14415 Legg-Calve-Perthes disease DOID:14415 updated Legg-Calve-Perthes symptom DOID:14415 DOID MONDO:0007886 uterine corpus leiomyoma oio:hasExactSynonym oio:hasRelatedSynonym uterine leiomyoma DOID:13223 uterine fibroid DOID:13223, ICD9CM:218 updated uterine leiomyoma DOID:13223 DOID @@ -28364,9 +27848,6 @@ MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:h MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed Platyspondylic dwarfism, Torrance type lethal short-limbed platyspondylic dwarfism, Torrance type DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 updated lethal short-limbed Platyspondylic dwarfism, Torrance type DOID:0111508 DOID MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia, Torrance variant DOID:0111508 Torrance type platyspondylic dysplasia OMIM:151210 updated thanatophoric dysplasia, Torrance variant DOID:0111508 DOID MONDO:0007895 platyspondylic dysplasia, Torrance type oio:hasExactSynonym oio:hasRelatedSynonym PLSDT DOID:0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:151210, MONDO:Lexical updated PLSDT DOID:0111508 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia DOID:8527 monocytic leukemia NCIT:C4861 updated monocytic leukemia DOID:8527 DOID -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukaemia DOID:8527 monocytic leukemia http://purl.obolibrary.org/obo/OMO_0003005 updated monocytic leukaemia DOID:8527 DOID -MONDO:0007909 familial multiple lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym lipoma DOID:3315 lipoma OMIM:151900 updated lipoma DOID:3315 DOID MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema with distichiasis DOID:0111509 lymphedema-distichiasis syndrome OMIM:153400 updated lymphedema with distichiasis DOID:0111509 DOID MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Riley-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 updated Riley-Smith syndrome DOID:0050657 DOID MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome OMIM:153480 updated Ruvalcaba-Myhre-Smith syndrome DOID:0050657 DOID @@ -28380,18 +27861,13 @@ MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym preaxial manibulofacial dysostosis DOID:5768 Nager acrofacial dysostosis DOID:5768 updated preaxial manibulofacial dysostosis DOID:5768 DOID MONDO:0007943 Nager acrofacial dysostosis oio:hasExactSynonym oio:hasRelatedSynonym AFD DOID:5768 Nager acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5768 updated AFD DOID:5768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 1 TREACHER COLLINS syndrome 1 Treacher Collins syndrome 1 DOID:0080789 Treacher Collins syndrome 1 OMIM:154500, MONDO:Lexical updated TREACHER COLLINS syndrome 1 DOID:0080789 DOID -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome DOID:2908 Treacher Collins syndrome OMIM:154500 updated Treacher Collins syndrome DOID:2908 DOID -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis DOID:2908 Treacher Collins syndrome OMIM:154500 updated mandibulofacial dysostosis DOID:2908 DOID MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym oio:hasRelatedSynonym abnormal innervation syndrome of eyelid DOID:560 jaw-winking syndrome ICD9CM:374.43, DOID:560 updated abnormal innervation syndrome of eyelid DOID:560 DOID MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 Marshall syndrome GARD:0006984 updated deafness, myopia, cataract, saddle nose-Marshall type DOID:0111510 DOID MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS DOID:0111510 Marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 updated MRSHS DOID:0111510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa DOID:12309 urticaria pigmentosa OMIM:154800 updated urticaria pigmentosa DOID:12309 DOID -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma DOID:3973 medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 updated medullary thyroid carcinoma DOID:3973 DOID MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym infratentorial primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 updated infratentorial primitive neuroectodermal tumor DOID:0050902 DOID MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym localized primitive neuroectodermal tumor DOID:0050902 medulloblastoma DOID:0050902 updated localized primitive neuroectodermal tumor DOID:0050902 DOID MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C5398, DOID:0050902 updated CNS PNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET DOID:0050902 medulloblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 updated CPNET DOID:0050902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity DOID:3873 desmoplastic/nodular medulloblastoma OMIM:155255 updated medulloblastoma with extensive nodularity DOID:3873 DOID MONDO:0007972 Meniere disease oio:hasExactSynonym oio:hasRelatedSynonym Meniere's disease DOID:9849 Meniere's disease DOID:9849 updated Meniere's disease DOID:9849 DOID MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 autosomal dominant intellectual developmental disorder 1 DOID:0070031 updated autosomal dominant non-syndromic intellectual disability 1 DOID:0070031 DOID MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS metachondromatosis DOID:0111512 metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 updated METACHONDROMATOSIS DOID:0111512 DOID @@ -28402,18 +27878,11 @@ MONDO:0007988 autosomal dominant primary microcephaly oio:hasExactSynonym oio:ha MONDO:0008016 trismus-pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA7 DOID:0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:158300, MONDO:Lexical updated DA7 DOID:0111603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome DOID:0050465 Muir-Torre syndrome OMIM:158320 updated MUIR-Torre syndrome DOID:0050465 DOID MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 DOID:0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 updated FSHD1 DOID:0111192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 updated FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy GARD:0009941, OMIM:158900, MESH:C536391 updated Landouzy-Dejerine muscular dystrophy DOID:11727 DOID -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy DOID:11727 facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 updated facioscapulohumeral muscular dystrophy DOID:11727 DOID MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 DOID:0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 updated FSHD2 DOID:0111193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym MST Mst MST DOID:0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159595 updated MST DOID:0060888 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008044 myoclonic dystonia 11 oio:hasExactSynonym oio:hasRelatedSynonym myoclonic dystonia DOID:0090033 myoclonic dystonia OMIM:159900 updated myoclonic dystonia DOID:0090033 DOID MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy MONDO:Lexical, OMIM:159950 updated spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 DOID MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMAPME DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159950, MONDO:Lexical updated SMAPME DOID:0111527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy DOID:0111267 hyaline body myopathy PMID:24664454, PMID:22918376 updated myosin storage myopathy DOID:0111267 DOID MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym childhood type dermatomyositis DOID:14203 childhood type dermatomyositis DOID:14203 updated childhood type dermatomyositis DOID:14203 DOID -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis DOID:633 myositis OMIM:160750 updated myositis DOID:633 DOID -MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Thomsen and Becker disease DOID:2106 myotonia congenita Orphanet:614 updated Thomsen and Becker disease DOID:2106 DOID MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated NAEGELI syndrome DOID:0111528 DOID MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated NAEGELI-Franceschetti-Jadassohn syndrome DOID:0111528 DOID MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nfj syndrome Nfj syndrome NFJ syndrome DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated Nfj syndrome DOID:0111528 DOID @@ -28432,8 +27901,6 @@ MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelated MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid Nevus phakomatosis organoid Nevus phakomatosis organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome OMIM:163200 updated organoid Nevus phakomatosis DOID:0111530 DOID MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym organoid nevus phakomatosis DOID:0111530 linear nevus sebaceous syndrome GARD:0010291 updated organoid nevus phakomatosis DOID:0111530 DOID MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym JNP DOID:0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010291 updated JNP DOID:0111530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome DOID:3490 Noonan syndrome OMIM:163950 updated Noonan syndrome DOID:3490 DOID -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD DOID:84 osteochondritis dissecans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 updated OCD DOID:84 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008123 autosomal dominant omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 2 DOID:0080845 omodysplasia 2 MONDO:Lexical, OMIM:164745 updated omodysplasia 2 DOID:0080845 DOID MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 3 with cataract DOID:0111433 optic atrophy 3 GARD:0010203 updated optic atrophy 3 with cataract DOID:0111433 DOID MONDO:0008133 optic atrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym OPA3 DOID:0111433 optic atrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:165300 updated OPA3 DOID:0111433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28473,23 +27940,19 @@ MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:ha MONDO:0008196 parastremmatic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Parastremmatic dysplasia Parastremmatic dysplasia parastremmatic dysplasia DOID:0111539 parastremmatic dwarfism GARD:0004222 updated Parastremmatic dysplasia DOID:0111539 DOID MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Parkinson's disease 1 DOID:0060367 Parkinson's disease 1 DOID:0060367 updated autosomal dominant Parkinson's disease 1 DOID:0060367 DOID MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome DOID:0060563 Char syndrome OMIM:169100 updated CHAR syndrome DOID:0060563 DOID -MONDO:0008210 patterned macular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym patterned dystrophy of retinal pigment epithelium DOID:0060863 patterned macular dystrophy OMIM:169150 updated patterned dystrophy of retinal pigment epithelium DOID:0060863 DOID MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Imidodipeptidase deficiency Imidodipeptidase deficiency imidodipeptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 updated Imidodipeptidase deficiency DOID:0111540 DOID MONDO:0008221 prolidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Peptidase deficiency Peptidase deficiency peptidase deficiency DOID:0111540 prolidase deficiency GARD:0007473 updated Peptidase deficiency DOID:0111540 DOID MONDO:0008223 hypokalemic periodic paralysis oio:hasExactSynonym oio:hasNarrowSynonym periodic paralysis I periodic paralysis I Periodic paralysis I DOID:14452 hypokalemic periodic paralysis DOID:14452 updated periodic paralysis I DOID:14452 DOID -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary thyroid carcinoma, familial medullary THYROID CARCINOMA, FAMILIAL MEDULLARY DOID:0050547 familial medullary thyroid carcinoma OMIM:171400 updated thyroid carcinoma, familial medullary DOID:0050547 DOID MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease DOID:11870 Pick's disease DOID:11870 updated Pick's disease DOID:11870 DOID MONDO:0008246 pigmented paravenous retinochoroidal atrophy oio:hasExactSynonym oio:hasRelatedSynonym pigmented paravenous chorioretinal atrophy DOID:0111541 pigmented paravenous chorioretinal atrophy MONDO:Lexical, OMIM:172870 updated pigmented paravenous chorioretinal atrophy DOID:0111541 DOID MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym primary spontaneous pneumothorax DOID:0080218 primary spontaneous pneumothorax GARD:0004997, DOID:0080218 updated primary spontaneous pneumothorax DOID:0080218 DOID MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome DOID:0060472 Kindler syndrome OMIM:173650 updated KINDLER syndrome DOID:0060472 DOID -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease DOID:0050770 polycystic liver disease MONDO:Lexical, OMIM:174050 updated polycystic liver disease DOID:0050770 DOID MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with Median cleft of upper lip polydactyly, postaxial, with median cleft of upper lip DOID:0060375 orofaciodigital syndrome V OMIM:174300 updated polydactyly, postaxial, with Median cleft of upper lip DOID:0060375 DOID MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease DOID:0111542 familial expansile osteolysis OMIM:174810 updated Mccabe disease DOID:0111542 DOID MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym FEO DOID:0111542 familial expansile osteolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174810, MONDO:Lexical updated FEO DOID:0111542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome DOID:0050787 juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 updated juvenile polyposis syndrome DOID:0050787 DOID MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 Cronkhite-Canada syndrome OMIM:175500 updated polyposis, skin pigmentation, alopecia, and fingernail changes DOID:6225 DOID MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym punctate palmoplantar keratoderma type II DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 updated punctate palmoplantar keratoderma type II DOID:0080213 DOID -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP DOID:2800 acute interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical updated AIP DOID:2800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008301 Guttmacher syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 Guttmacher syndrome GARD:0004470 updated autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias DOID:0111544 DOID MONDO:0008302 central precocious puberty 1 oio:hasExactSynonym oio:hasRelatedSynonym CPPB1 DOID:0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176400, MONDO:Lexical updated CPPB1 DOID:0112310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome DOID:0111546 Currarino syndrome OMIM:176450 updated CURRARINO syndrome DOID:0111546 DOID @@ -28508,7 +27971,6 @@ MONDO:0008334 psoriasis 1, susceptibility to oio:hasExactSynonym oio:hasRelatedS MONDO:0008346 pulmonary hemosiderosis oio:hasExactSynonym oio:hasRelatedSynonym siderosis DOID:10328 siderosis DOID:10328 updated siderosis DOID:10328 DOID MONDO:0008373 retinal arterial tortuosity oio:hasExactSynonym oio:hasRelatedSynonym RATOR DOID:0111547 retinal arterial tortuosity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180000, MONDO:Lexical updated RATOR DOID:0111547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 DOID:0081024 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 updated retinal cone dystrophy 1 DOID:0081024 DOID -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa DOID:10584 retinitis pigmentosa MONDO:Lexical, OMIM:268000 updated retinitis pigmentosa DOID:10584 DOID MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB DOID:768 retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 updated RB DOID:768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasBroadSynonym atrophic arthritis atrophic arthritis atrophic Arthritis DOID:7148 rheumatoid arthritis NCIT:C27206, DOID:7148 updated atrophic arthritis DOID:7148 DOID MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea ring dermoid of cornea DOID:0111548 ring dermoid of cornea OMIM:180550 updated RING dermoid of cornea DOID:0111548 DOID @@ -28528,9 +27990,6 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis type 13 DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0060204 updated amyotrophic lateral sclerosis type 13 DOID:0060204 DOID MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:183090, DOID:0060204 updated amyotrophic lateral sclerosis 13 DOID:0060204 DOID MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym ALS13 DOID:0060204 amyotrophic lateral sclerosis type 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060204, OMIM:183090 updated ALS13 DOID:0060204 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome WADIA-SWAMI SYNDROME DOID:14784 olivopontocerebellar atrophy OMIM:183090 updated Wadia-swami syndrome DOID:14784 DOID -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand deformity DOID:0090020 split hand-foot malformation OMIM:183600 updated split-hand deformity DOID:0090020 DOID -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia DOID:0112295 spondylometaphyseal dysplasia OMIM:184250 updated spondylometaphyseal dysplasia DOID:0112295 DOID MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism arthrogryposis skeletal maturation advanced Dysmorphism arthrogryposis skeletal maturation advanced dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 updated Dysmorphism arthrogryposis skeletal maturation advanced DOID:0111554 DOID MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier Kozlowski skeletal dysplasia DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 updated Jequier Kozlowski skeletal dysplasia DOID:0111554 DOID MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym Jequier-Kozlowski syndrome DOID:0111554 spondylometaphyseal dysplasia Kozlowski type GARD:0003047 updated Jequier-Kozlowski syndrome DOID:0111554 DOID @@ -28542,7 +28001,6 @@ MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExact MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym SMDCF DOID:0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184255 updated SMDCF DOID:0112297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex steatocystoma multiplex DOID:0111556 steatocystoma multiplex OMIM:184500 updated STEATOCYSTOMA multiplex DOID:0111556 DOID MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sebaceous cysts DOID:0111556 steatocystoma multiplex GARD:0005003 updated multiple sebaceous cysts DOID:0111556 DOID -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS DOID:0111382 ischiocoxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 updated SPS DOID:0111382 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 updated STIFF-PERSON syndrome DOID:13366 DOID MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome Stiff-man syndrome DOID:13366 Stiff-Person syndrome OMIM:184850 updated Stiff-Man syndrome DOID:13366 DOID MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome stiff skin syndrome DOID:0111561 stiff skin syndrome OMIM:184900 updated STIFF skin syndrome DOID:0111561 DOID @@ -28561,9 +28019,7 @@ MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym Haas t MONDO:0008515 syndactyly type 4 oio:hasExactSynonym oio:hasRelatedSynonym SDTY4 DOID:0111818 syndactyly type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:186200 updated SDTY4 DOID:0111818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 syndactyly type 5 GARD:0005089 updated syndactyly with associated metacarpal and metatarsal fusion DOID:0111819 DOID MONDO:0008516 syndactyly type 5 oio:hasExactSynonym oio:hasRelatedSynonym SDTY5 DOID:0111819 syndactyly type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:186300 updated SDTY5 DOID:0111819 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica DOID:853 polymyalgia rheumatica OMIM:187360 updated polymyalgia rheumatica DOID:853 DOID MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT tetralogy of Fallot DOID:6419 tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT DOID:6419 DOID -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia DOID:1587 thrombocytopenia due to platelet alloimmunization Orphanet:3002 updated immune thrombocytopenia DOID:1587 DOID MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura DOID:8924 autoimmune thrombocytopenic purpura OMIM:188030 updated immune thrombocytopenic purpura DOID:8924 DOID MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to factor 2 defect DOID:0111907 thrombophilia due to thrombin defect OMIM:188050 updated thrombophilia due to factor 2 defect DOID:0111907 DOID MONDO:0008559 thrombophilia due to thrombin defect oio:hasExactSynonym oio:hasRelatedSynonym THPH1 DOID:0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188050 updated THPH1 DOID:0111907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28574,17 +28030,13 @@ MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSy MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to activated protein C resistance DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 updated thrombophilia due to ACTIVATED PROTEIN C resistance DOID:0111902 DOID MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia due to deficiency of activated protein C cofactor DOID:0111902 thrombophilia due to activated protein C resistance OMIM:188055 updated thrombophilia due to deficiency of Activated Protein C cofactor DOID:0111902 DOID MONDO:0008560 thrombophilia due to activated protein C resistance oio:hasExactSynonym oio:hasRelatedSynonym THPH2 DOID:0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188055 updated THPH2 DOID:0111902 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 updated Shprintzen syndrome DOID:12583 DOID -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome DOID:12583 velocardiofacial syndrome NCIT:C2989 updated velocardiofacial syndrome DOID:12583 DOID MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym absence of tibia with polydactyly DOID:0111564 hypoplastic or aplastic tibia with polydactyly GARD:0008309 updated absence of tibia with polydactyly DOID:0111564 DOID MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 hypoplastic or aplastic tibia with polydactyly Orphanet:988 updated tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome DOID:0111564 DOID MONDO:0008575 nicotine dependence oio:hasExactSynonym oio:hasRelatedSynonym tobacco use disorder DOID:0050742 nicotine dependence DOID:0050742, MESH:D014029 updated tobacco use disorder DOID:0050742 DOID -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxaemia of pregnancy DOID:10591 pre-eclampsia http://purl.obolibrary.org/obo/OMO_0003005 updated toxaemia of pregnancy DOID:10591 DOID MONDO:0008590 tremor, hereditary essential, 1 oio:hasExactSynonym oio:hasRelatedSynonym ETM1 DOID:0111428 essential tremor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190300, MONDO:Lexical updated ETM1 DOID:0111428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008596 trichorhinophalangeal syndrome type I oio:hasRelatedSynonym oio:hasExactSynonym trichorhinophalangeal dysplasia type I trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I DOID:14743 trichorhinophalangeal syndrome type I MTH:NOCODE, DOID:14743 updated trichorhinophalangeal dysplasia type I DOID:14743 DOID MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym complete trisomy 21 syndrome complete trisomy 21 syndrome Complete trisomy 21 syndrome DOID:14250 Down syndrome DOID:14250 updated complete trisomy 21 syndrome DOID:14250 DOID MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome DOID:14250 Down syndrome NCIT:C2993, DOID:14250 updated trisomy 21 syndrome DOID:14250 DOID -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberose sclerosis tuberose sclerosis Tuberose sclerosis DOID:13515 tuberous sclerosis OMIM:191100 updated tuberose sclerosis DOID:13515 DOID MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome DOID:0050854 Muckle-Wells syndrome OMIM:191900 updated MUCKLE-Wells syndrome DOID:0050854 DOID MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS DOID:0050854 Muckle-Wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 updated MWS DOID:0050854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices DOID:799 varicose veins Wikipedia:Varices, DOID:799 updated varices DOID:799 DOID @@ -28603,20 +28055,14 @@ MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRe MONDO:0008663 snowflake vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVD DOID:0111570 snowflake vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193230, MONDO:Lexical updated SVD DOID:0111570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008673 acrofacial dysostosis, Weyers type oio:hasExactSynonym oio:hasRelatedSynonym WAD wad WAD DOID:0111571 Weyers acrofacial dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193530, MONDO:Lexical updated WAD DOID:0111571 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym oio:hasRelatedSynonym DA2A DOID:0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:193700, MONDO:Lexical updated DA2A DOID:0111605 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym White sponge Nevus of Cannon White sponge Nevus of Cannon white sponge nevus of Cannon DOID:0050448 white sponge nevus OMIM:193900 updated White sponge Nevus of Cannon DOID:0050448 DOID MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym oio:hasRelatedSynonym WHITE sponge NEVUS 1 WHITE sponge NEVUS 1 white sponge nevus 1 DOID:0081287 white sponge nevus 1 OMIM:193900 updated WHITE sponge NEVUS 1 DOID:0081287 DOID MONDO:0008678 Williams syndrome oio:hasExactSynonym oio:hasRelatedSynonym WBS DOID:1928 Williams-Beuren syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194050 updated WBS DOID:1928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008681 WAGR syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P13 deletion syndrome chromosome 11P13 deletion syndrome chromosome 11p13 deletion syndrome DOID:14515 WAGR syndrome OMIM:194072 updated chromosome 11P13 deletion syndrome DOID:14515 DOID MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 4P16.3 deletion syndrome chromosome 4P16.3 deletion syndrome chromosome 4p16.3 deletion syndrome DOID:0050460 Wolf-Hirschhorn syndrome OMIM:194190 updated chromosome 4P16.3 deletion syndrome DOID:0050460 DOID -MONDO:0008686 isolated familial wooly hair disorder oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194300 updated ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym dehydrated hereditary stomatocytosis DOID:0111575 dehydrated hereditary stomatocytosis OMIM:194380 updated dehydrated hereditary stomatocytosis DOID:0111575 DOID MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 updated DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DOID:0111576 DOID MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 updated Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema DOID:0111576 DOID MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Edinburgh pseudohyperkalemia Edinburgh pseudohyperkalemia edinburgh DOID:0111576 dehydrated hereditary stomatocytosis 1 OMIM:194380 updated pseudohyperkalemia Edinburgh DOID:0111576 DOID -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis DOID:0050765 neuroacanthocytosis OMIM:200150 updated neuroacanthocytosis DOID:0050765 DOID MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym choreaacanthocytosis DOID:0050766 choreaacanthocytosis DOID:0050766 updated choreaacanthocytosis DOID:0050766 DOID -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis OMIM:200610 updated hypochondrogenesis DOID:0080044 DOID -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis DOID:0080044 hypochondrogenesis NCIT:C3816 updated hypochondrogenesis DOID:0080044 DOID MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasNarrowSynonym factor I deficiency factor I deficiency Factor I deficiency DOID:2236 congenital afibrinogenemia DOID:2236 updated factor I deficiency DOID:2236 DOID MONDO:0008740 agnathia-otocephaly complex oio:hasExactSynonym oio:hasRelatedSynonym Dysgnathia Complex agnathia-holoprosencephaly Dysgnathia Complex agnathia-holoprosencephaly dysgnathia complex agnathia-holoprosencephaly DOID:0060341 agnathia-otocephaly complex OMIM:202650 updated Dysgnathia Complex agnathia-holoprosencephaly DOID:0060341 DOID MONDO:0008745 oculocutaneous albinism type 1A oio:hasExactSynonym oio:hasRelatedSynonym oculocutaneous albinism type IA DOID:0070094 oculocutaneous albinism type IA DOID:0070094 updated oculocutaneous albinism type IA DOID:0070094 DOID @@ -28626,7 +28072,6 @@ MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedS MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-ketoglutarate dehydrogenase deficiency ALPHA-ketoglutarate dehydrogenase deficiency alpha-ketoglutarate dehydrogenase deficiency DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 updated ALPHA-ketoglutarate dehydrogenase deficiency DOID:0081326 DOID MONDO:0008759 oxoglutaricaciduria oio:hasExactSynonym oio:hasRelatedSynonym Oxoglutaric aciduria DOID:0081326 oxoglutarate dehydrogenase deficiency OMIM:203740 updated Oxoglutaric aciduria DOID:0081326 DOID MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency DOID:14723 beta-ketothiolase deficiency OMIM:203750 updated mitochondrial acetoacetyl-Coa thiolase deficiency DOID:14723 DOID -MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA DOID:14791 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 updated LCA DOID:14791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten disease DOID:0110731 neuronal ceroid lipofuscinosis 3 OMIM:204200 updated batten disease DOID:0110731 DOID MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia oio:hasExactSynonym oio:hasRelatedSynonym ALS-dementia Complex ALS-dementia Complex ALS-dementia complex DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia OMIM:205200 updated ALS-dementia Complex DOID:0110067 DOID MONDO:0008798 nonsyndromic congenital nail disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym anonychia congenita DOID:0080082 nonsyndromic congenital nail disorder 4 DOID:0050643 updated anonychia congenita DOID:0080082 DOID @@ -28640,13 +28085,10 @@ MONDO:0008803 Antley-Bixler syndrome oio:hasExactSynonym oio:hasRelatedSynonym A MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym C-II Anapolipoproteinemia C-II Anapolipoproteinemia C-II anapolipoproteinemia DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 updated C-II Anapolipoproteinemia DOID:0111418 DOID MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1B hyperlipoproteinemia, type 1b DOID:0111418 familial apolipoprotein C-II deficiency OMIM:207750 updated hyperlipoproteinemia, type 1B DOID:0111418 DOID MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency DOID:14755 argininosuccinic aciduria OMIM:207900 updated argininosuccinate lyase deficiency DOID:14755 DOID -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome ARC syndrome DOID:0050763 ARC syndrome OMIM:208085 updated Arc syndrome DOID:0050763 DOID MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical updated ARCS1 DOID:0111353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome OMIM:208150 updated fetal akinesia sequence DOID:0111375 DOID MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym foetal akinesia sequence DOID:0111375 fetal akinesia deformation sequence syndrome http://purl.obolibrary.org/obo/OMO_0003005 updated foetal akinesia sequence DOID:0111375 DOID -MONDO:0008831 asphyxiating thoracic dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Jeune syndrome DOID:0050592 asphyxiating thoracic dystrophy OMIM:208500 updated Jeune syndrome DOID:0050592 DOID MONDO:0008834 asthma, nasal polyps, and aspirin intolerance oio:hasExactSynonym oio:hasRelatedSynonym Asa triad Asa triad ASA triad DOID:0111579 asthma, nasal polyps, and aspirin intolerance OMIM:208550 updated Asa triad DOID:0111579 DOID -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 updated BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome DOID:0060549 Barber-Say syndrome OMIM:209885 updated BARBER-SAY syndrome DOID:0060549 DOID MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym bare lymphocyte syndrome type II DOID:5812 MHC class II deficiency DOID:5812 updated bare lymphocyte syndrome type II DOID:5812 DOID MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym BLSII DOID:5812 MHC class II deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5812 updated BLSII DOID:5812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28654,15 +28096,8 @@ MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 Behr syndrome GARD:0000849 updated optic atrophy, infantile hereditary, Behr complicated form of DOID:0111580 DOID MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0000849 updated optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss DOID:0111580 DOID MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS DOID:0111580 Behr syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 updated BEHRS DOID:0111580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-Methylcrotonyl-Coa carboxylase deficiency 3-Methylcrotonyl-Coa carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 updated 3-Methylcrotonyl-Coa carboxylase deficiency DOID:0050710 DOID -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-methylcrotonylglycinuria 3-methylcrotonylglycinuria 3-Methylcrotonylglycinuria DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 updated 3-methylcrotonylglycinuria DOID:0050710 DOID -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bmcc deficiency Bmcc deficiency BMCC deficiency DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MESH:C535308 updated Bmcc deficiency DOID:0050710 DOID MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 updated 3-METHYLCROTONYL-CoA carboxylase 1 deficiency DOID:0080579 DOID MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 updated 3-METHYLCROTONYL-CoA carboxylase 2 deficiency DOID:0080580 DOID -MONDO:0008869 Seckel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism Bird-headed dwarfism bird-headed dwarfism DOID:0050569 Seckel syndrome OMIM:210600 updated Bird-headed dwarfism DOID:0050569 DOID -MONDO:0008890 progressive bulbar palsy oio:hasExactSynonym oio:hasNarrowSynonym Fazio-Londe disease DOID:0080632 Fazio-Londe disease OMIM:211500 updated Fazio-Londe disease DOID:0080632 DOID -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 OMIM:211530, MONDO:Lexical updated Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 DOID -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis DOID:0070221 progressive familial intrahepatic cholestasis GARD:0009802 updated progressive familial intrahepatic cholestasis DOID:0070221 DOID MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification and distal joint calcification DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 updated arterial calcification and distal joint calcification DOID:0111582 DOID MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to CD73 deficiency DOID:0111582 hereditary arterial and articular multiple calcification syndrome GARD:0010762 updated arterial calcification due to CD73 deficiency DOID:0111582 DOID MONDO:0008895 hereditary arterial and articular multiple calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of Cd73 arterial calcification due to deficiency of CD73 DOID:0111582 hereditary arterial and articular multiple calcification syndrome OMIM:211800 updated arterial calcification due to deficiency of Cd73 DOID:0111582 DOID @@ -28687,22 +28122,16 @@ MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:ha MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym LHRH deficiency and ataxia DOID:0111587 Gordon Holmes syndrome OMIM:212840 updated LHRH deficiency and ataxia DOID:0111587 DOID MONDO:0008935 cerebellar ataxia-hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym GDHS DOID:0111587 Gordon Holmes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:212840 updated GDHS DOID:0111587 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008939 isolated cerebellar hypoplasia/agenesis oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia DOID:0070338 cerebellar hypoplasia OMIM:213000 updated cerebellar hypoplasia DOID:0070338 DOID -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome DOID:0050777 Joubert syndrome OMIM:213300 updated Joubert syndrome DOID:0050777 DOID MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cerebellooculorenal syndrome 1 Cerebellooculorenal syndrome 1 cerebellooculorenal syndrome 1 DOID:0110980 Joubert syndrome 1 OMIM:213300 updated Cerebellooculorenal syndrome 1 DOID:0110980 DOID MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym oio:hasNarrowSynonym Fahr disease DOID:0060230 basal ganglia calcification http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060230 updated Fahr disease DOID:0060230 DOID -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) oio:hasExactSynonym oio:hasRelatedSynonym Cerebrohepatorenal syndrome Cerebrohepatorenal syndrome cerebrohepatorenal syndrome DOID:905 Zellweger syndrome OMIM:214100 updated Cerebrohepatorenal syndrome DOID:905 DOID -MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym CLD DOID:0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010001 updated CLD DOID:0111646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency DOID:0060602 alpha-methylacyl-CoA racemase deficiency Orphanet:79095 updated AMACR deficiency DOID:0060602 DOID MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid in bile trihydroxycoprostanic acid in bile DOID:0111068 congenital bile acid synthesis defect 4 OMIM:214950 updated Trihydroxycoprostanic acid in bile DOID:0111068 DOID MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 DOID:0110851 rhizomelic chondrodysplasia punctata type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical updated RCDP1 DOID:0110851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic form Chondrodysplasia Punctata, Rhizomelic Form DOID:2580 rhizomelic chondrodysplasia punctata OMIM:215100 updated chondrodysplasia punctata, rhizomelic form DOID:2580 DOID MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Greenberg skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 updated Greenberg skeletal dysplasia DOID:0111588 DOID MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 Greenberg dysplasia GARD:0008754 updated autosomal recessive lethal chondrodystrophy with congenital hydrops DOID:0111588 DOID MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 Greenberg dysplasia GARD:0008754 updated hydrops, ectopic calcification, moth-eaten skeletal dysplasia DOID:0111588 DOID MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBGD DOID:0111588 Greenberg dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215140 updated GRBGD DOID:0111588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasNarrowSynonym chondrosarcoma of bone DOID:3371 chondrosarcoma DOID:3371 updated chondrosarcoma of bone DOID:3371 DOID MONDO:0008977 chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym primary chondrosarcoma of the bone DOID:3371 chondrosarcoma DOID:3371 updated primary chondrosarcoma of the bone DOID:3371 DOID -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia DOID:9273 citrullinemia OMIM:215700, OMIM:genemap2 updated citrullinemia DOID:9273 DOID MONDO:0008995 Yunis-Varon syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia DOID:0060589 Yunis-Varon syndrome OMIM:216340 updated cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia DOID:0060589 DOID MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypotonia, obesity, and prominent incisors hypotonia, obesity, and prominent incisors Hypotonia, obesity, and prominent incisors DOID:0111590 Cohen syndrome OMIM:216550 updated hypotonia, obesity, and prominent incisors DOID:0111590 DOID MONDO:0008999 Cohen syndrome oio:hasExactSynonym oio:hasRelatedSynonym pepper syndrome pepper syndrome Pepper syndrome DOID:0111590 Cohen syndrome OMIM:216550 updated pepper syndrome DOID:0111590 DOID @@ -28714,7 +28143,6 @@ MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasE MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHDTHP DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217085, MONDO:Lexical updated CHDTHP DOID:0111591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy and perceptive deafness DOID:0111620 corneal dystrophy-perceptive deafness syndrome MONDO:Lexical, OMIM:217400 updated corneal dystrophy and perceptive deafness DOID:0111620 DOID MONDO:0009015 corneal dystrophy-perceptive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym CDPD1 Cdpd1 CDPD1 DOID:0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217400 updated CDPD1 DOID:0111620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy DOID:0060443 corneal endothelial dystrophy OMIM:217700, MESH:C536439 updated corneal endothelial dystrophy DOID:0060443 DOID MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym cortisol 11-Beta-ketoreductase deficiency cortisol 11-Beta-ketoreductase deficiency cortisol 11-beta-ketoreductase deficiency DOID:4367 apparent mineralocorticoid excess syndrome OMIM:218030 updated cortisol 11-Beta-ketoreductase deficiency DOID:4367 DOID MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dysmorphism, corpus callosum agenesis and colobomas Dysmorphism, corpus callosum agenesis and colobomas dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 Temtamy syndrome GARD:0005688 updated Dysmorphism, corpus callosum agenesis and colobomas DOID:0111621 DOID MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome DOID:0111621 Temtamy syndrome OMIM:218340 updated TEMTAMY syndrome DOID:0111621 DOID @@ -28734,14 +28162,10 @@ MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:h MONDO:0009052 cutis laxa, autosomal recessive, type 1A oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IA DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 updated autosomal recessive cutis laxa type IA DOID:0070135 DOID MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym De Barsy syndrome a De Barsy syndrome a De Barsy syndrome A DOID:0070132 autosomal recessive cutis laxa type IIIA OMIM:219150 updated De Barsy syndrome a DOID:0070132 DOID MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIIA DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 updated autosomal recessive cutis laxa type IIIA DOID:0070132 DOID -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A DOID:0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical updated ARCL2A DOID:0070134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type II classic type DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 updated autosomal recessive cutis laxa type II classic type DOID:0070141 DOID MONDO:0009063 ventriculomegaly-cystic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym ventriculomegaly with cystic kidney disease DOID:0111625 ventriculomegaly - cystic kidney disease OMIM:219730, MONDO:Lexical updated ventriculomegaly with cystic kidney disease DOID:0111625 DOID -MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy Orphanet:254905 updated isolated cytochrome C oxidase deficiency DOID:0081377 DOID MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-glycericacidemia DOID:0111626 D-glyceric aciduria GARD:0000234 updated D-glycericacidemia DOID:0111626 DOID MONDO:0009070 D-glyceric aciduria oio:hasExactSynonym oio:hasRelatedSynonym non ketotic hyperglycinemia syndrome DOID:0111626 D-glyceric aciduria GARD:0000234 updated non ketotic hyperglycinemia syndrome DOID:0111626 DOID -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia DOID:0060565 Ritscher-Schinzel syndrome OMIM:220210 updated Craniocerebellocardiac dysplasia DOID:0060565 DOID -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome DOID:0060565 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 updated Ritscher-Schinzel syndrome DOID:0060565 DOID MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A DOID:0110475 updated autosomal recessive deafness 1A DOID:0110475 DOID MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A OMIM:220290 updated autosomal recessive nonsyndromic deafness 1A DOID:0110475 DOID MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym DFNB1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:220290, DOID:0110475 updated DFNB1A DOID:0110475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -28750,9 +28174,7 @@ MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oi MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness and myopia syndrome DOID:0111628 high myopia-sensorineural deafness syndrome GARD:0012844 updated deafness and myopia syndrome DOID:0111628 DOID MONDO:0009082 high myopia-sensorineural deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym DFNMYP DOID:0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:221200 updated DFNMYP DOID:0111628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WOLFRAM syndrome 1 WOLFRAM syndrome 1 Wolfram syndrome 1 DOID:0110629 Wolfram syndrome 1 OMIM:222300 updated WOLFRAM syndrome 1 DOID:0110629 DOID -MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WFS Wfs WFS DOID:10632 Wolfram syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222300 updated WFS DOID:10632 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria DOID:0090144 Donnai-Barrow syndrome OMIM:222448 updated diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria DOID:0090144 DOID -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 updated THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance lysinuric protein intolerance DOID:0060439 lysinuric protein intolerance OMIM:222700 updated lysinuric PROTEIN intolerance DOID:0060439 DOID MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect glutamate-aspartate transport defect DOID:0060650 dicarboxylic aminoaciduria OMIM:222730 updated glutamate-aspartate Transport defect DOID:0060650 DOID MONDO:0009111 dihydropyrimidinuria oio:hasExactSynonym oio:hasRelatedSynonym Dph deficiency Dph deficiency DPH deficiency DOID:0111629 dihydropyrimidinase deficiency OMIM:222748 updated Dph deficiency DOID:0111629 DOID @@ -28772,13 +28194,11 @@ MONDO:0009134 congenital dyserythropoietic anemia type 2 oio:hasExactSynonym oio MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDA Ia DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120 updated CDA Ia DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym oio:hasRelatedSynonym CDAN1A DOID:0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224120, MONDO:Lexical updated CDAN1A DOID:0111398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive dyskeratosis congenita 1 DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 updated autosomal recessive dyskeratosis congenita 1 DOID:0070015 DOID -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome DOID:0060306 Meier-Gorlin syndrome OMIM:224690 updated Meier-Gorlin syndrome DOID:0060306 DOID MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-GORLIN syndrome 1 Meier-GORLIN syndrome 1 Meier-Gorlin syndrome 1 DOID:0080512 Meier-Gorlin syndrome 1 OMIM:224690 updated Meier-GORLIN syndrome 1 DOID:0080512 DOID MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome Schopf-Schulz-Passarge syndrome DOID:0111647 Schopf-Schulz-Passarge syndrome MONDO:Lexical, OMIM:224750 updated SCHOPF-Schulz-Passarge syndrome DOID:0111647 DOID MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B DOID:0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical updated ECTD10B DOID:0111665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 updated cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 DOID MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym CLPED1 DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253 updated CLPED1 DOID:0060773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 7 DOID:0080400 orofacial cleft 7 OMIM:225060 updated orofacial cleft 7 DOID:0080400 DOID MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive isolated ectopia lentis 2 DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 updated autosomal recessive isolated ectopia lentis 2 DOID:0111149 DOID MONDO:0009153 ectopia lentis et pupillae oio:hasExactSynonym oio:hasRelatedSynonym ectopia lentis with ectopia of pupil DOID:0111648 ectopia lentis with ectopia of pupil OMIM:225200 updated ectopia lentis with ectopia of pupil DOID:0111648 DOID MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 5 DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 updated congenital nongoitrous hypothyroidism 5 DOID:0070125 DOID @@ -28802,8 +28222,6 @@ MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency DOID:2222 factor X deficiency OMIM:227600 updated factor X deficiency DOID:2222 DOID MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym FACC facc FACC DOID:0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227645 updated FACC DOID:0111087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym FAD2 Fad2 FAD2 DOID:0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227646 updated FAD2 DOID:0111083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia DOID:13636 Fanconi anemia OMIM:227650 updated Fanconi Anemia DOID:13636 DOID -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anaemia Fanconi Anaemia Fanconi anaemia DOID:13636 Fanconi anemia http://purl.obolibrary.org/obo/OMO_0003005 updated Fanconi Anaemia DOID:13636 DOID MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease XI DOID:0070562 Fanconi-Bickel syndrome GARD:0002268 updated glycogen storage disease XI DOID:0070562 DOID MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type DOID:0070562 Fanconi-Bickel syndrome OMIM:227810 updated glycogenosis, Fanconi type DOID:0070562 DOID MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency N-laurylsphingosine deacylase deficiency DOID:0050464 Farber lipogranulomatosis OMIM:228000 updated N-Laurylsphingosine deacylase deficiency DOID:0050464 DOID @@ -28817,12 +28235,10 @@ MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria FIGLU-uria DOID:0111679 glutamate formiminotransferase deficiency OMIM:229100 updated Figlu-Uria DOID:0111679 DOID MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminoglutamic acidemia DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 updated formiminoglutamic acidemia DOID:0111679 DOID MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency syndrome DOID:0111679 glutamate formiminotransferase deficiency GARD:0009279 updated formiminotransferase deficiency syndrome DOID:0111679 DOID -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 DOID:0080729 brittle cornea syndrome 2 DOID:14775 updated brittle cornea syndrome 2 DOID:0080729 DOID MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 DOID:14775 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical updated brittle cornea syndrome 1 DOID:14775 DOID MONDO:0009252 essential fructosuria oio:hasExactSynonym oio:hasRelatedSynonym hepatic fructokinase deficiency DOID:0111680 essential fructosuria OMIM:229800 updated hepatic fructokinase deficiency DOID:0111680 DOID MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency DOID:0111458 galactose epimerase deficiency OMIM:230350 updated Gale deficiency DOID:0111458 DOID MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency DOID:0111459 classic galactosemia OMIM:230400 updated Galt deficiency DOID:0111459 DOID -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia DOID:9870 galactosemia OMIM:230400 updated galactosemia DOID:9870 DOID MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GELEOPHYSIC dysplasia 1 GELEOPHYSIC dysplasia 1 geleophysic dysplasia 1 DOID:0111725 geleophysic dysplasia 1 OMIM:231050 updated GELEOPHYSIC dysplasia 1 DOID:0111725 DOID MONDO:0009269 geleophysic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD1 DOID:0111725 geleophysic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231050, MONDO:Lexical updated GPHYSD1 DOID:0111725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GERODERMA OSTEODYSPLASTICUM GERODERMA OSTEODYSPLASTICUM geroderma osteodysplasticum DOID:0111266 geroderma osteodysplasticum OMIM:231070, MONDO:Lexical updated GERODERMA OSTEODYSPLASTICUM DOID:0111266 DOID @@ -28831,7 +28247,6 @@ MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym Walt Disney dwarfism DOID:0111266 geroderma osteodysplasticum OMIM:231070 updated Walt Disney dwarfism DOID:0111266 DOID MONDO:0009271 geroderma osteodysplastica oio:hasExactSynonym oio:hasRelatedSynonym GO DOID:0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:231070 updated GO DOID:0111266 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia DOID:0112251 Ghosal hematodiaphyseal syndrome OMIM:231095 updated GHOSAL hematodiaphyseal dysplasia DOID:0112251 DOID -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical updated BSS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos DOID:11211 buphthalmos DOID:11211, OMIM:231300 updated buphthalmos DOID:11211 DOID MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym AAAS DOID:0050602 triple-A syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231550, MONDO:Lexical updated AAAS DOID:0050602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009281 glutaryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym glutaric acidemia I DOID:0111254 glutaric acidemia I OMIM:231670 updated glutaric acidemia I DOID:0111254 DOID @@ -28845,8 +28260,6 @@ MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 updated GGT deficiency DOID:0111257 DOID MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GGT1 deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency GARD:0010099 updated GGT1 deficiency DOID:0111257 DOID MONDO:0009285 gamma-glutamyl transpeptidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GTG deficiency DOID:0111257 gamma-glutamyl transpeptidase deficiency OMIM:231950 updated GTG deficiency DOID:0111257 DOID -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Von Gierke disease von Gierke disease DOID:0081329 glycogen storage disease I OMIM:232200 updated Von Gierke disease DOID:0081329 DOID -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 1 glycogen storage disease 1 Glycogen storage disease 1 DOID:0081329 glycogen storage disease I OMIM:232200 updated glycogen storage disease 1 DOID:0081329 DOID MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease Ia DOID:2749 glycogen storage disease Ia OMIM:232200, MONDO:Lexical updated glycogen storage disease Ia DOID:2749 DOID MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 2 glycogen storage disease 2 Glycogen storage disease 2 DOID:2752 glycogen storage disease II OMIM:232300 updated glycogen storage disease 2 DOID:2752 DOID MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 3 glycogen storage disease 3 Glycogen storage disease 3 DOID:2748 glycogen storage disease III OMIM:232400 updated glycogen storage disease 3 DOID:2748 DOID @@ -28880,11 +28293,8 @@ MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRe MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type DOID:0112255 homocystinuria-megaloblastic anemia cblE type OMIM:236270 updated vitamin B12-responsive homocystinuria, cblE type DOID:0112255 DOID MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE DOID:0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 updated HMAE DOID:0112255 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARCH DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236500 updated MARCH DOID:0080327 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 updated cerebroocular dysplasia-muscular dystrophy syndrome DOID:0050560 DOID -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym hard syndrome hard syndrome HARD syndrome DOID:0050560 Walker-Warburg syndrome OMIM:236670 updated hard syndrome DOID:0050560 DOID MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 OMIM:236670 updated Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related DOID:0111237 DOID MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 updated MDDGA1 DOID:0111237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome DOID:0050779 hydrolethalus syndrome OMIM:genemap2, OMIM:236680 updated hydrolethalus syndrome DOID:0050779 DOID MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 DOID:0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical updated HLS1 DOID:0111355 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kaufman McKusick syndrome DOID:0111255 McKusick-Kaufman syndrome GARD:0003427 updated Kaufman McKusick syndrome DOID:0111255 DOID MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome McKusick-Kaufman syndrome DOID:0111255 McKusick-Kaufman syndrome OMIM:236700 updated MCKUSICK-Kaufman syndrome DOID:0111255 DOID @@ -28901,7 +28311,6 @@ MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency oio:ha MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome HHH syndrome DOID:0050720 ornithine translocase deficiency OMIM:238970 updated Hhh syndrome DOID:0050720 DOID MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym SOST-related sclerosing bone dysplasia DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 updated SOST-related sclerosing bone dysplasia DOID:0080036 DOID MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease van Buchem disease DOID:0080036 SOST-related sclerosing bone dysplasia OMIM:239100 updated VAN Buchem disease DOID:0080036 DOID -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Mabry syndrome DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome OMIM:239300 updated Mabry syndrome DOID:0070431 DOID MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 OMIM:239300 updated glycosylphosphatidylinositol biosynthesis defect 2 DOID:0070433 DOID MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS1 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:239300 updated HPMRS1 DOID:0070433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Whitaker syndrome DOID:0050167 autoimmune polyendocrine syndrome type 1 GTR:AN0156902 updated Whitaker syndrome DOID:0050167 DOID @@ -28928,14 +28337,8 @@ MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynon MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 Baraitser-Winter syndrome 1 DOID:0081112 Baraitser-Winter syndrome 1 OMIM:243310 updated Baraitser-WINTER syndrome 1 DOID:0081112 DOID MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency DOID:14753 isovaleric acidemia OMIM:243500 updated isovaleric acid Coa dehydrogenase deficiency DOID:14753 DOID MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome DOID:14694 Johanson-Blizzard syndrome OMIM:243800 updated Johanson-BLIZZARD syndrome DOID:14694 DOID -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome DOID:0050144 Kartagener syndrome OMIM:244400 updated Kartagener syndrome DOID:0050144 DOID -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis DOID:9563 bronchiectasis OMIM:244400 updated Polynesian bronchiectasis DOID:9563 DOID MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym Kaufman oculocerebrofacial syndrome DOID:0111456 Kaufman oculocerebrofacial syndrome OMIM:244450, MONDO:Lexical updated Kaufman oculocerebrofacial syndrome DOID:0111456 DOID -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 updated KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS DOID:0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical updated KOS DOID:0111712 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym KCS Kcs KCS DOID:12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244460 updated KCS DOID:12895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide beta-galactosidase deficiency DOID:10587 Krabbe disease OMIM:245200 updated galactosylceramide Beta-galactosidase deficiency DOID:10587 DOID -MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasBroadSynonym succinate-CoA ligase deficiency DOID:0080124 mitochondrial DNA depletion syndrome 5 ORCID:0000-0001-6330-7526, PMID:26475597, PMID:31240156 updated succinate-CoA ligase deficiency DOID:0080124 DOID MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome DOID:1930 Laurence-Moon syndrome OMIM:245800 updated Laurence-MOON syndrome DOID:1930 DOID MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym LNMS DOID:1930 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245800, MONDO:Lexical updated LNMS DOID:1930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency OMIM:246450 updated HMG-Coa lyase deficiency DOID:0070541 DOID @@ -28947,11 +28350,8 @@ MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009527 lipase deficiency, combined oio:hasExactSynonym oio:hasRelatedSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 familial lipase maturation factor 1 deficiency OMIM:246650 updated lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency DOID:0111422 DOID MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda mal de Meleda DOID:0060862 mal de Meleda OMIM:248300 updated MAL DE Meleda DOID:0060862 DOID MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MDM DOID:0060862 mal de Meleda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0000092, OMIM:248300 updated MDM DOID:0060862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia DOID:0081127 mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 updated mandibuloacral dysplasia DOID:0081127 DOID MONDO:0009558 Treacher Collins syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym TREACHER COLLINS syndrome 3 TREACHER COLLINS syndrome 3 Treacher Collins syndrome 3 DOID:0080791 Treacher Collins syndrome 3 OMIM:248390 updated TREACHER COLLINS syndrome 3 DOID:0080791 DOID MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency DOID:3633 beta-mannosidosis OMIM:248510 updated lysosomal Beta-mannosidase deficiency DOID:3633 DOID -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 updated Meckel syndrome DOID:0050778 DOID -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome DOID:0050778 Meckel syndrome MESH:C536133, OMIM:249000 updated Meckel-Gruber syndrome DOID:0050778 DOID MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 1 DOID:0070115 Meckel syndrome 1 DOID:0070115 updated Meckel syndrome 1 DOID:0070115 DOID MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anemia syndrome thiamine-responsive Anemia syndrome thiamine-responsive anemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome OMIM:249270 updated thiamine-responsive Anemia syndrome DOID:0090117 DOID MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thiamine-responsive Anaemia syndrome thiamine-responsive Anaemia syndrome thiamine-responsive anaemia syndrome DOID:0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/OMO_0003005 updated thiamine-responsive Anaemia syndrome DOID:0090117 DOID @@ -28983,10 +28383,8 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency type B DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 updated molybdenum cofactor deficiency type B DOID:0111163 DOID MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis II alpha/beta DOID:0080070 mucolipidosis II alpha/beta OMIM:252500 updated mucolipidosis II alpha/beta DOID:0080070 DOID MONDO:0009652 GNPTG-mucolipidosis oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III gamma DOID:0080678 mucolipidosis III gamma OMIM:252605 updated mucolipidosis III gamma DOID:0080678 DOID -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency DOID:12801 mucopolysaccharidosis III OMIM:252900 updated heparan sulfate sulfatase deficiency DOID:12801 DOID MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym Mucopoly-saccharidosis type 3B DOID:0111394 mucopolysaccharidosis type IIIB GARD:0007072 updated Mucopoly-saccharidosis type 3B DOID:0111394 DOID MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB OMIM:252920 updated NAGLU deficiency DOID:0111394 DOID -MONDO:0009656 mucopolysaccharidosis type 3B oio:hasNarrowSynonym oio:hasRelatedSynonym NAGLU deficiency NAGLU deficiency naglu deficiency DOID:12801 mucopolysaccharidosis III OMIM:252920 updated NAGLU deficiency DOID:12801 DOID MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 mucopolysaccharidosis type IIID OMIM:252940 updated N-acetylglucosamine-6-sulfatase deficiency DOID:0111402 DOID MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym MPS IIID DOID:0111402 mucopolysaccharidosis type IIID http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007074 updated MPS IIID DOID:0111402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasBroadSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA OMIM:253000 updated Morquio A disease DOID:0111391 DOID @@ -28994,8 +28392,6 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym oio:hasRelatedSy MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym oio:hasRelatedSynonym MPS IVB DOID:0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003786 updated MPS IVB DOID:0111392 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis VI DOID:12800 mucopolysaccharidosis VI DOID:12800 updated mucopolysaccharidosis VI DOID:12800 DOID MONDO:0009664 mulibrey nanism oio:hasExactSynonym oio:hasRelatedSynonym pericardial constriction and Growth failure pericardial constriction and Growth failure PERICARDIAL CONSTRICTION AND GROWTH FAILURE DOID:0050436 mulibrey nanism OMIM:253250 updated pericardial constriction and Growth failure DOID:0050436 DOID -MONDO:0009665 biotinidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym biotin deficiency DOID:0050810 biotin deficiency GARD:0000894 updated biotin deficiency DOID:0050810 DOID -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency DOID:857 multiple carboxylase deficiency NCIT:C98842 updated multiple carboxylase deficiency DOID:857 DOID MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 OMIM:253280 updated Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related DOID:0111236 DOID MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA3 DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253280, MONDO:Lexical updated MDDGA3 DOID:0111236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile muscular atrophy DOID:13137 Werdnig-Hoffmann disease DOID:13137 updated infantile muscular atrophy DOID:13137 DOID @@ -29004,22 +28400,11 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroad MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym muscular atrophy, spinal, Intermediate type muscular atrophy, spinal, Intermediate type MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE DOID:0050530 intermediate spinal muscular atrophy OMIM:253550 updated muscular atrophy, spinal, Intermediate type DOID:0050530 DOID MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy type II DOID:0050530 intermediate spinal muscular atrophy GARD:0004945 updated spinal muscular atrophy type II DOID:0050530 DOID MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym SMA II DOID:0050530 intermediate spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004945 updated SMA II DOID:0050530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich Scleroatonic muscular dystrophy Ullrich Scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 updated Ullrich Scleroatonic muscular dystrophy DOID:0050558 DOID -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 updated Ullrich congenital muscular dystrophy DOID:0050558 DOID -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ULLRICH DISEASE DOID:0050558 Ullrich congenital muscular dystrophy OMIM:254090 updated Ullrich disease DOID:0050558 DOID -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical updated Miyoshi muscular dystrophy 1 DOID:0070199 DOID -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 updated MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 updated CMS1A DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2 Cms Ia2 CMS Ia2 DOID:0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254210 updated CMS Ia2 DOID:0110671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B DOID:0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 updated CMS1B DOID:0110662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis DOID:4971 myelofibrosis OMIM:254450 updated myelofibrosis DOID:4971 DOID -MONDO:0009692 primary myelofibrosis oio:hasRelatedSynonym oio:hasExactSynonym aleukemic myelosis DOID:6004 aleukemic leukemia DOID:4971 updated aleukemic myelosis DOID:6004 DOID -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis OMIM:254500 updated Al amyloidosis DOID:0080933 DOID -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy DOID:891 progressive myoclonus epilepsy OMIM:254800 updated progressive myoclonic epilepsy DOID:891 DOID MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB DOID:0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 updated MSMB DOID:0111268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009709 myopathy, centronuclear, 2 oio:hasExactSynonym oio:hasRelatedSynonym CNM2 DOID:0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255200 updated CNM2 DOID:0111220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 DOID:0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 updated NPH1 DOID:0111112 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:256450 updated hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 DOID MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 DOID:0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical updated HHF1 DOID:0070219 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis DOID:3343 glycoproteinosis DOID:3343 updated glycoproteinosis DOID:3343 DOID MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis DOID:3343 glycoproteinosis DOID:3343 updated sialidosis DOID:3343 DOID @@ -29027,11 +28412,9 @@ MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSyn MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972 updated MPV17-related hepatocerebral mitochondrial DNA depletion syndrome DOID:0080125 DOID MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 6 DOID:0080125 mitochondrial DNA depletion syndrome 6 GARD:0003972, DOID:0080125 updated mitochondrial DNA depletion syndrome 6 DOID:0080125 DOID MONDO:0009751 neuropathy, hereditary sensory, atypical oio:hasExactSynonym oio:hasRelatedSynonym atypical hereditary sensory neuropathy DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 updated atypical hereditary sensory neuropathy DOID:0070160 DOID -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelin lipidosis DOID:14504 Niemann-Pick disease OMIM:257200 updated sphingomyelin lipidosis DOID:14504 DOID MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C1 DOID:0070113 Niemann-Pick disease type C1 DOID:0070113, GARD:0007207 updated Niemann-Pick disease type C1 DOID:0070113 DOID MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym NPC1 DOID:0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257220, MONDO:Lexical updated NPC1 DOID:0070113 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 DOID:0080141 mosaic variegated aneuploidy syndrome 1 OMIM:257300 updated MOSAIC variegated aneuploidy syndrome 1 DOID:0080141 DOID -MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym oculopalatoskeletal syndrome DOID:0060225 3MC syndrome OMIM:257920 updated oculopalatoskeletal syndrome DOID:0060225 DOID MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 updated Oligochiasmatic infertility DOID:0070188 DOID MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligosynaptic infertility Oligosynaptic infertility oligosynaptic infertility DOID:0070188 spermatogenic failure 1 OMIM:258150 updated Oligosynaptic infertility DOID:0070188 DOID MONDO:0009779 autosomal recessive omodysplasia oio:hasExactSynonym oio:hasRelatedSynonym omodysplasia 1 DOID:0080844 omodysplasia 1 OMIM:258315, MONDO:Lexical updated omodysplasia 1 DOID:0080844 DOID @@ -29047,23 +28430,13 @@ MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 Parkinson's disease 15 DOID:0060372 updated autosomal recessive early-onset Parkinson's disease 15 DOID:0060372 DOID MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm DOID:1793 pancreatic cancer DOID:1793 updated pancreas neoplasm DOID:1793 DOID MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 Shwachman-Diamond syndrome DOID:0080023 updated Shwachman-Diamond type metaphyseal dysplasia DOID:0060479 DOID -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP DOID:0112308 central precocious puberty http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical updated CPP DOID:0112308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasNarrowSynonym childhood choroid plexus papilloma DOID:2626 choroid plexus papilloma DOID:2626 updated childhood choroid plexus papilloma DOID:2626 DOID -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma DOID:5648 choroid plexus carcinoma OMIM:260500 updated choroid plexus carcinoma DOID:5648 DOID MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-Xylulosuria L-Xylulosuria L-xylulosuria DOID:0111258 pentosuria OMIM:260800 updated L-Xylulosuria DOID:0111258 DOID MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym L-xylulose reductase deficiency DOID:0111258 pentosuria OMIM:260800 updated L-xylulose reductase deficiency DOID:0111258 DOID MONDO:0009846 pentosuria oio:hasExactSynonym oio:hasRelatedSynonym PNTSU DOID:0111258 pentosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260800 updated PNTSU DOID:0111258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJS DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:262000 updated BJS DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTD DOID:0050677 Bjornstad syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:262000 updated PTD DOID:0050677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD DOID:0060870 isolated growth hormone deficiency GARD:0007399 updated congenital IGHD DOID:0060870 DOID -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 updated congenital isolated GH deficiency DOID:0060870 DOID -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 updated congenital isolated growth hormone deficiency DOID:0060870 DOID -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency GARD:0007399 updated non-acquired isolated growth hormone deficiency DOID:0060870 DOID MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Illig-type Growth hormone deficiency Illig-type Growth hormone deficiency Illig-type growth hormone deficiency DOID:0060873 isolated growth hormone deficiency type IA OMIM:262400 updated Illig-type Growth hormone deficiency DOID:0060873 DOID -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 DOID:0080212 polycystic kidney disease 4 DOID:0110861 updated polycystic kidney and hepatic disease 1 DOID:0080212 DOID -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type I polycystic kidney disease, infantile, type i DOID:0080212 polycystic kidney disease 4 DOID:0110861 updated polycystic kidney disease, infantile, type I DOID:0080212 DOID -MONDO:0009889 autosomal recessive polycystic kidney disease oio:hasExactSynonym oio:hasNarrowSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease DOID:0110861 updated polycystic kidney and hepatic disease 1 DOID:898 DOID -MONDO:0009891 acquired polycythemia vera oio:hasExactSynonym oio:hasRelatedSynonym primary polycythemia DOID:10780 primary polycythemia GARD:0007422 updated primary polycythemia DOID:10780 DOID MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym ECYT2 DOID:0060474 familial erythrocytosis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263400, MONDO:Lexical updated ECYT2 DOID:0060474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 BH4-deficient hyperphenylalaninemia D GARD:0002843 updated tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency DOID:0081131 DOID MONDO:0009910 Wiedemann-Rautenstrauch syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, neonatal progeroid syndrome, neonatal PROGEROID SYNDROME, NEONATAL DOID:0081333 Wiedemann-Rautenstrauch syndrome OMIM:264090 updated progeroid syndrome, neonatal DOID:0081333 DOID @@ -29077,12 +28450,8 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation persistent foetal circulation Persistent foetal circulation DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 updated persistent foetal circulation DOID:13042 DOID MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent foetal circulation syndrome DOID:13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/OMO_0003005 updated persistent foetal circulation syndrome DOID:13042 DOID MONDO:0009943 Pyle disease oio:hasExactSynonym oio:hasBroadSynonym metaphyseal dysplasia DOID:0080019 metaphyseal dysplasia MONDO:0000841, OMIM:265900 updated metaphyseal dysplasia DOID:0080019 DOID -MONDO:0009945 pyridoxine-dependent epilepsy oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 updated AASA dehydrogenase deficiency DOID:0070519 DOID -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency DOID:0080699 glutathione synthetase deficiency OMIM:266130, MONDO:Lexical updated glutathione synthetase deficiency DOID:0080699 DOID MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym Pk deficiency Pk deficiency PK deficiency DOID:0111077 pyruvate kinase deficiency of red cells OMIM:266200 updated Pk deficiency DOID:0111077 DOID MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIC congenital disorder of glycosylation type IIc DOID:0070255 congenital disorder of glycosylation type IIc GARD:0004634 updated congenital disorder of glycosylation type IIC DOID:0070255 DOID -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym ulcerative colitis DOID:8577 ulcerative colitis OMIM:266600 updated ulcerative colitis DOID:8577 DOID -MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Crohn disease DOID:8778 Crohn's disease OMIM:266600 updated Crohn disease DOID:8778 DOID MONDO:0009966 NPHP3-related Meckel-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 7 DOID:0070121 Meckel syndrome 7 GARD:0004665 updated Meckel syndrome 7 DOID:0070121 DOID MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 updated familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 DOID MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym HLH1 Hlh1 HLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:267700 updated HLH1 DOID:0110921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29095,13 +28464,10 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS DO MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel Giedion syndrome DOID:0070509 Schinzel Giedion syndrome GARD:0000117 updated Schinzel Giedion syndrome DOID:0070509 DOID MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome DOID:0070509 Schinzel Giedion syndrome OMIM:269150 updated Schinzel-Giedion midface retraction syndrome DOID:0070509 DOID MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS DOID:0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 updated SGS DOID:0070509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal opacification and other ocular anomalies DOID:0060648 anterior segment dysgenesis DOID:0060648 updated corneal opacification and other ocular anomalies DOID:0060648 DOID -MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym sclerocornea with Other ocular anomalies sclerocornea with Other ocular anomalies sclerocornea with other ocular anomalies DOID:0060648 anterior segment dysgenesis OMIM:269400 updated sclerocornea with Other ocular anomalies DOID:0060648 DOID MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis DOID:4423 sea-blue histiocytosis OMIM:269600 updated sea-blue histiocytosis DOID:4423 DOID MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 48 DOID:0111943 immunodeficiency 48 OMIM:269840 updated immunodeficiency 48 DOID:0111943 DOID MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD48 DOID:0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269840 updated IMD48 DOID:0111943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010026 SHORT syndrome oio:hasExactSynonym oio:hasRelatedSynonym short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 SHORT syndrome OMIM:269880 updated short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay DOID:0111454 DOID -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus DOID:0050545 visceral heterotaxy NCIT:C87121 updated situs ambiguus DOID:0050545 DOID MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjogren's syndrome DOID:12894 Sjogren's syndrome DOID:12894 updated Sjogren's syndrome DOID:12894 DOID MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym FALDH deficiency DOID:14501 Sjogren-Larsson syndrome OMIM:270200 updated FALDH deficiency DOID:14501 DOID MONDO:0010044 hereditary spastic paraplegia 15 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia and retinal Degeneration spastic paraplegia and retinal Degeneration spastic paraplegia and retinal degeneration DOID:0110768 hereditary spastic paraplegia 15 OMIM:270700 updated spastic paraplegia and retinal Degeneration DOID:0110768 DOID @@ -29111,7 +28477,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 autosomal recessive spinocerebellar ataxia 3 Orphanet:95433 updated autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome DOID:0111612 DOID MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia sponastrime dysplasia DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type OMIM:271510 updated Sponastrime dysplasia DOID:5684 DOID MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability OMIM:271620 updated spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 DOID -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasBroadSynonym SEMDJL DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271640 updated SEMDJL DOID:0112197 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 OMIM:271640 updated spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures DOID:0112198 DOID MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED short limb-hand type DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 updated SMED short limb-hand type DOID:0112196 DOID MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMED type 2 DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type GARD:0010616 updated SMED type 2 DOID:0112196 DOID @@ -29126,7 +28491,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Aspa def MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease CANAVAN-VAN BOGAERT-BERTRAND DISEASE DOID:3613 Canavan disease OMIM:271900 updated Canavan-Van Bogaert-Bertrand disease DOID:3613 DOID MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system DOID:3613 Canavan disease OMIM:271900 updated spongy Degeneration of central nervous system DOID:3613 DOID MONDO:0010087 Sugarman brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly with Major proximal phalangeal shortening brachydactyly with Major proximal phalangeal shortening brachydactyly with major proximal phalangeal shortening DOID:0110979 Sugarman brachydactyly OMIM:272150 updated brachydactyly with Major proximal phalangeal shortening DOID:0110979 DOID -MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Sohar-Crisponi syndrome DOID:0060294 cold-induced sweating syndrome OMIM:272430 updated Sohar-Crisponi syndrome DOID:0060294 DOID MONDO:0010091 Cold-induced sweating syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cold-induced sweating syndrome 1 DOID:0080329 cold-induced sweating syndrome 1 OMIM:272430, MONDO:Lexical updated cold-induced sweating syndrome 1 DOID:0080329 DOID MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome DOID:0112194 Filippi syndrome OMIM:272440 updated FILIPPI syndrome DOID:0112194 DOID MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym Scott craniodigital syndrome with mental retardation DOID:0112194 Filippi syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:272440 updated Scott craniodigital syndrome with mental retardation DOID:0112194 DOID @@ -29134,12 +28498,8 @@ MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, type 1 DOID:3320 Tay-Sachs disease GARD:0007737 updated GM2 gangliosidosis, type 1 DOID:3320 DOID MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease DOID:3320 Tay-Sachs disease OMIM:272800 updated TAY-Sachs disease DOID:3320 DOID MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym hexosaminidase a deficiency hexosaminidase a deficiency hexosaminidase A deficiency DOID:3320 Tay-Sachs disease OMIM:272800 updated hexosaminidase a deficiency DOID:3320 DOID -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor DOID:1911 endodermal sinus tumor OMIM:273300 updated endodermal sinus tumor DOID:1911 DOID -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumour DOID:1911 endodermal sinus tumor http://purl.obolibrary.org/obo/OMO_0003005 updated endodermal sinus tumour DOID:1911 DOID -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma DOID:4440 seminoma OMIM:273300 updated seminoma DOID:4440 DOID MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer DOID:5557 testicular germ cell cancer DOID:5557 updated testicular germ cell cancer DOID:5557 DOID MONDO:0010108 testicular germ cell tumor oio:hasRelatedSynonym oio:hasExactSynonym testicular germ cell neoplasm DOID:5557 testicular germ cell cancer NCIT:C8591, DOID:5557 updated testicular germ cell neoplasm DOID:5557 DOID -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma DOID:5834 spermatocytoma OMIM:273300 updated spermatocytic seminoma DOID:5834 DOID MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETAMS DOID:0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:273395 updated TETAMS DOID:0112191 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym iodide peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 updated iodide peroxidase deficiency DOID:0112186 DOID MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency DOID:0112186 thyroid dyshormonogenesis 2A OMIM:274500 updated thyroid peroxidase deficiency DOID:0112186 DOID @@ -29158,26 +28518,14 @@ MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynony MONDO:0010164 phocomelia, Schinzel type oio:hasExactSynonym oio:hasRelatedSynonym AARRS DOID:0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009212 updated AARRS DOID:0112181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency DOID:0112180 urocanase deficiency OMIM:276880, MONDO:Lexical updated urocanase deficiency DOID:0112180 DOID MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym UROCD DOID:0112180 urocanase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:276880, MONDO:Lexical updated UROCD DOID:0112180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100, OMIM:277000 updated MRKH syndrome DOID:0112177 DOID -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome OMIM:277000 updated Mayer-Rokitansky-KUSTER-Hauser syndrome DOID:0112177 DOID -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome GARD:0007100 updated Rokitansky syndrome DOID:0112177 DOID MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly cleft lip palate psychomotor retardation polydactyly cleft lip palate psychomotor retardation Polydactyly cleft lip palate psychomotor retardation DOID:0060376 Joubert syndrome with orofaciodigital defect GARD:0004412 updated polydactyly cleft lip palate psychomotor retardation DOID:0060376 DOID -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral absence of vas deferens DOID:0111862 congenital bilateral absence of vas deferens OMIM:genemap2, OMIM:277180 updated congenital bilateral absence of vas deferens DOID:0111862 DOID -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 updated CAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD DOID:0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical updated CBAVD DOID:0111862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym MAHCF DOID:0050717 methylmalonic aciduria and homocystinuria type cblF http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277380 updated MAHCF DOID:0050717 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym MAHCC DOID:0050715 methylmalonic aciduria and homocystinuria type cblC http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277400 updated MAHCC DOID:0050715 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD oio:hasExactSynonym oio:hasRelatedSynonym MAHCD DOID:0050716 methylmalonic aciduria and homocystinuria type cblD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277410 updated MAHCD DOID:0050716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors Orphanet:98434 updated hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 DOID -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD Vkcfd VKCFD DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450 updated VKCFD DOID:0112172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 oio:hasExactSynonym oio:hasRelatedSynonym VKCFD1 DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277450, MONDO:Lexical updated VKCFD1 DOID:0112173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010190 pontocerebellar hypoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym PCH2 Pch2 PCH2 DOID:0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277470 updated PCH2 DOID:0112328 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome DOID:14731 Weaver syndrome OMIM:277590 updated WEAVER syndrome DOID:14731 DOID MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym Weaver-like syndrome Weaver-like syndrome WEAVER-LIKE SYNDROME DOID:14731 Weaver syndrome OMIM:277590 updated Weaver-like syndrome DOID:14731 DOID -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy DOID:2384 Wernicke encephalopathy NCIT:C35764 updated Wernicke encephalopathy DOID:2384 DOID MONDO:0010200 Wilson disease oio:hasExactSynonym oio:hasRelatedSynonym hepatolenticular Degeneration hepatolenticular Degeneration hepatolenticular degeneration DOID:893 Wilson disease OMIM:277900 updated hepatolenticular Degeneration DOID:893 DOID -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine dehydrogenase deficiency DOID:0060236 xanthinuria MESH:C562584 updated xanthine dehydrogenase deficiency DOID:0060236 DOID -MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidase deficiency DOID:0060236 xanthinuria MESH:C562584 updated xanthine oxidase deficiency DOID:0060236 DOID MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSynonym XPE XPe XPE DOID:0110846 xeroderma pigmentosum group E http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:278740 updated XPE DOID:0110846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal 2 46,XX SEX reversal 2 46,XX sex reversal 2 DOID:0111763 46,XX sex reversal 2 OMIM:278850 updated 46,XX SEX reversal 2 DOID:0111763 DOID MONDO:0010218 46,XX sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXX2 DOID:0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:278850 updated SRXX2 DOID:0111763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29190,7 +28538,6 @@ MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym dos MONDO:0010226 46,XY sex reversal 2 oio:hasExactSynonym oio:hasRelatedSynonym SRXY2 DOID:0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300018 updated SRXY2 DOID:0111777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010228 hearing loss, X-linked 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNX3 DOID:0111736 X-linked deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300030, MONDO:Lexical updated DFNX3 DOID:0111736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010238 hearing loss, X-linked 4 oio:hasExactSynonym oio:hasRelatedSynonym DFNX4 DOID:0111735 X-linked deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300066, MONDO:Lexical updated DFNX4 DOID:0111735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation oio:hasExactSynonym oio:hasRelatedSynonym Double cortex syndrome Double cortex syndrome double cortex syndrome DOID:0111169 subcortical band heterotopia OMIM:300067 updated Double cortex syndrome DOID:0111169 DOID MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMD X-linked DOID:0112150 X-linked spondyloepimetaphyseal dysplasia GARD:0004979 updated SEMD X-linked DOID:0112150 DOID MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SEMDX DOID:0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300106, GARD:0004979 updated SEMDX DOID:0112150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010256 intellectual disability, X-linked 21 oio:hasExactSynonym oio:hasRelatedSynonym MRX21 DOID:0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300143 updated MRX21 DOID:0112022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29199,7 +28546,6 @@ MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010261 microphthalmia, syndromic 2 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS2 DOID:0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300166 updated MCOPS2 DOID:0111809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 AMME complex OMIM:300194 updated chromosome Xq22.3 telomeric deletion syndrome DOID:0111860 DOID MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR DOID:0111860 AMME complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 updated ATS-MR DOID:0111860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC DOID:0050635 alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical updated AHC DOID:0050635 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010266 intellectual disability, X-linked 58 oio:hasExactSynonym oio:hasRelatedSynonym MRX58 DOID:0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:300210 updated MRX58 DOID:0112024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym Odpf syndrome Odpf syndrome ODPF syndrome DOID:0112149 terminal osseous dysplasia OMIM:300244 updated Odpf syndrome DOID:0112149 DOID MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal osseous dysplasia DOID:0112149 terminal osseous dysplasia OMIM:300244, MONDO:Lexical updated terminal osseous dysplasia DOID:0112149 DOID @@ -29216,8 +28562,8 @@ MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:has MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency DOID:1919 Lesch-Nyhan syndrome OMIM:300322 updated Hprt1 deficiency DOID:1919 DOID MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome DOID:0112127 HRPT-related hyperuricemia OMIM:300323 updated KELLEY-Seegmiller syndrome DOID:0112127 DOID MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym oio:hasRelatedSynonym Incontinentia pigmenti achromians Incontinentia pigmenti achromians incontinentia pigmenti achromians DOID:3156 hypomelanosis of Ito OMIM:300337 updated Incontinentia pigmenti achromians DOID:3156 DOID -MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID +MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300354 updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym ACSL4-related intellectual disability DOID:0112050 non-syndromic X-linked intellectual disability 63 GARD:0005613 updated ACSL4-related intellectual disability DOID:0112050 DOID MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym MRX63 DOID:0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300387, MONDO:Lexical updated MRX63 DOID:0112050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related oio:hasExactSynonym oio:hasRelatedSynonym ARX-related intellectual disability DOID:0112021 non-syndromic X-linked intellectual disability ARX-related GARD:0005614 updated ARX-related intellectual disability DOID:0112021 DOID @@ -29315,7 +28661,6 @@ MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRela MONDO:0010548 spinocerebellar ataxia, X-linked 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAX2 Scax2 SCAX2 DOID:0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302600 updated SCAX2 DOID:0111830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 updated CMT1X DOID:0110209 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHARGE-like syndrome, X-linked DOID:0111826 Abruzzo-Erickson syndrome OMIM:302905 updated CHARGE-like syndrome, X-linked DOID:0111826 DOID -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis DOID:980 choroidal sclerosis OMIM:303100 updated choroidal sclerosis DOID:980 DOID MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome DOID:0060246 MASA syndrome DOID:0060246 updated CRASH syndrome DOID:0060246 DOID MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome OMIM:303600 updated COFFIN-Lowry syndrome DOID:3783 DOID MONDO:0010570 craniofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniofrontonasal dysostosis DOID:14737 craniofrontonasal syndrome OMIM:304110 updated craniofrontonasal dysostosis DOID:14737 DOID @@ -29323,7 +28668,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome DOID:0111784 otopalatodigital syndrome type 2 OMIM:304120 updated faciopalatoosseous syndrome DOID:0111784 DOID MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym oto-palato-digital syndrome type 2 DOID:0111784 otopalatodigital syndrome type 2 GARD:0005802 updated oto-palato-digital syndrome type 2 DOID:0111784 DOID MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 DOID:0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 updated OPD2 DOID:0111784 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS DOID:0111562 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical updated OHS DOID:0111562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew syndrome DOID:0060800 syndromic X-linked intellectual disability 5 MONDO:Lexical, OMIM:304340 updated PETTIGREW syndrome DOID:0060800 DOID MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome DOID:0060800 syndromic X-linked intellectual disability 5 DOID:0060800 updated fried syndrome DOID:0060800 DOID MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym Nance deafness DOID:0111737 X-linked deafness 2 Orphanet:383, OMIM:304400 updated Nance deafness DOID:0111737 DOID @@ -29332,16 +28676,6 @@ MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExact MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym X-linked mixed conductive and sensorineural deafness DOID:0111737 X-linked deafness 2 Orphanet:383 updated X-linked mixed conductive and sensorineural deafness DOID:0111737 DOID MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasNarrowSynonym conductive deafness with stapes fixation DOID:0111737 X-linked deafness 2 Orphanet:383 updated conductive deafness with stapes fixation DOID:0111737 DOID MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasRelatedSynonym DFN3 DOID:0111737 X-linked deafness 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004504 updated DFN3 DOID:0111737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym central hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.14, DOID:10003 updated central hearing loss DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency deafness high frequency deafness High frequency deafness DOID:10003 sensorineural hearing loss DOID:10003 updated high frequency deafness DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high frequency hearing loss high frequency hearing loss High Frequency Hearing Loss DOID:10003 sensorineural hearing loss DOID:10003, NCIT:C34663 updated high frequency hearing loss DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym high-frequency hearing loss DOID:10003 sensorineural hearing loss DOID:10003 updated high-frequency hearing loss DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive deafness perceptive deafness Perceptive deafness DOID:10003 sensorineural hearing loss DOID:10003 updated perceptive deafness DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss perceptive hearing loss Perceptive hearing loss DOID:10003 sensorineural hearing loss DOID:10003 updated perceptive hearing loss DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym perceptive hearing loss or deafness perceptive hearing loss or deafness Perceptive hearing loss or deafness DOID:10003 sensorineural hearing loss DOID:10003 updated perceptive hearing loss or deafness DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural deafness sensorineural deafness Sensorineural Deafness DOID:10003 sensorineural hearing loss NCIT:C26739, DOID:10003 updated sensorineural deafness DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensorineural hearing loss DOID:10003 sensorineural hearing loss MONDO:ambiguous updated sensorineural hearing loss DOID:10003 DOID -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym oio:hasBroadSynonym sensory hearing loss sensory hearing loss Sensory hearing loss DOID:10003 sensorineural hearing loss ICD9CM:389.11, DOID:10003 updated sensory hearing loss DOID:10003 DOID MONDO:0010577 hearing loss, X-linked 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNX1 DOID:0111739 X-linked deafness 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304500 updated DFNX1 DOID:0111739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome DOID:0050757 deafness-dystonia-optic neuronopathy syndrome OMIM:304700, MONDO:Lexical updated MOHR-Tranebjaerg syndrome DOID:0050757 DOID MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:Lexical, OMIM:304790 updated IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked DOID:0090110 DOID @@ -29353,9 +28687,6 @@ MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym XLHED Xlhed XLHED DOID:0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305100 updated XLHED DOID:0111664 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVRX Evrx EVRX DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390 updated EVRX DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 DOID:0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical updated EVR2 DOID:0111413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome Orphanet:915 updated Aarskog syndrome DOID:0111824 DOID -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome DOID:0111824 Aarskog syndrome MESH:C535331, OMIM:305400, Orphanet:915 updated faciodigitogenital syndrome DOID:0111824 DOID -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome Orphanet:915, MESH:C535331, OMIM:305400 updated faciogenital dysplasia DOID:0111824 DOID MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome OMIM:305400, MESH:C535331, MONDO:Lexical updated Aarskog-Scott syndrome DOID:6683 DOID MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FODH Fodh FODH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305600 updated FODH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH DOID:2120 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 updated FDH DOID:2120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29365,16 +28696,12 @@ MONDO:0010615 isolated growth hormone deficiency type III oio:hasExactSynonym oi MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym oio:hasRelatedSynonym HYPX DOID:0111388 X-linked hypoparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307700 updated HYPX DOID:0111388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia DOID:0050445 X-linked dominant hypophosphatemic rickets DOID:0050445 updated X-linked hypophosphatemia DOID:0050445 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency DOID:0060022 CD40 ligand deficiency NCIT:C61244 updated CD40 ligand deficiency DOID:0060022 DOID -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome DOID:0080544 hyper IgM syndrome GARD:0000073 updated hyper IgM syndrome DOID:0080544 DOID -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym HIGM DOID:0080544 hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 updated HIGM DOID:0080544 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym X-linked hyper IgM syndrome DOID:6620 X-linked hyper IgM syndrome GARD:0000073 updated X-linked hyper IgM syndrome DOID:6620 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM syndrome 1 DOID:6620 X-linked hyper IgM syndrome OMIM:308230 updated hyper-IgM syndrome 1 DOID:6620 DOID MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym XHIM DOID:6620 X-linked hyper IgM syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000073 updated XHIM DOID:6620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative syndrome 1 DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 updated X-linked lymphoproliferative syndrome 1 DOID:0060705 DOID MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 DOID:0060705 X-linked lymphoproliferative syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 updated XLP1 DOID:0060705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS DOID:0060473 Kabuki syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 updated KMS DOID:0060473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym dysplasia Olfactogenitalis of De Morsier dysplasia Olfactogenitalis of De Morsier dysplasia olfactogenitalis of de morsier DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 updated dysplasia Olfactogenitalis of De Morsier DOID:0090094 DOID -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis spinulosa decalvans DOID:0080753 keratosis follicularis spinulosa decalvans MESH:C536159 updated keratosis follicularis spinulosa decalvans DOID:0080753 DOID MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell Leukemia DOID:12603 acute leukemia NCIT:C9298, DOID:12603 updated stem cell leukemia DOID:12603 DOID MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukaemia stem cell leukaemia Stem cell leukaemia DOID:12603 acute leukemia http://purl.obolibrary.org/obo/OMO_0003005 updated stem cell leukaemia DOID:12603 DOID MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 DOID:0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical updated SPGFX2 DOID:0070185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29387,12 +28714,10 @@ MONDO:0010659 FRAXE intellectual disability oio:hasExactSynonym oio:hasRelatedSy MONDO:0010660 intellectual disability, X-linked 9 oio:hasExactSynonym oio:hasRelatedSynonym MRX9 DOID:0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309549, MONDO:Lexical updated MRX9 DOID:0112034 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation Gustavson type DOID:0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0005611 updated X-linked mental retardation Gustavson type DOID:0081123 DOID MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion DOID:0111813 syndactyly type 8 OMIM:309630, MONDO:Lexical updated metacarpal 4-5 fusion DOID:0111813 DOID -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical updated linear skin defects with multiple congenital anomalies 1 DOID:0111808 DOID MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 DOID:0111225 centronuclear myopathy X-linked OMIM:310400 updated myotubular myopathy 1 DOID:0111225 DOID MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX DOID:0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 updated CNMX DOID:0111225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis 1 DOID:0111798 X-linked nephrolithiasis type I OMIM:310468 updated nephrolithiasis 1 DOID:0111798 DOID MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure oio:hasExactSynonym oio:hasRelatedSynonym XRN DOID:0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310468 updated XRN DOID:0111798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010690 congenital stationary night blindness 1A oio:hasExactSynonym oio:hasRelatedSynonym nyctalopia DOID:8499 night blindness OMIM:310500 updated nyctalopia DOID:8499 DOID MONDO:0010693 nystagmus 1, congenital, X-linked oio:hasExactSynonym oio:hasRelatedSynonym NYS1 DOID:0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:310700, MONDO:Lexical updated NYS1 DOID:0111790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym FMR1-related primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 updated FMR1-related primary ovarian insufficiency DOID:0080857 DOID MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency DOID:0080857 primary ovarian insufficiency 1 GARD:0004480 updated fragile X-associated primary ovarian insufficiency DOID:0080857 DOID @@ -29403,7 +28728,6 @@ MONDO:0010712 panhypopituitarism, X-linked oio:hasExactSynonym oio:hasRelatedSyn MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym complement Factor properdin deficiency complement Factor properdin deficiency complement factor properdin deficiency DOID:0111768 X-linked properdin deficiency OMIM:312060 updated complement Factor properdin deficiency DOID:0111768 DOID MONDO:0010713 properdin deficiency, X-linked oio:hasExactSynonym oio:hasRelatedSynonym CFPD DOID:0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312060, MONDO:Lexical updated CFPD DOID:0111768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym X-linked juvenile retinoschisis 1 DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 updated X-linked juvenile retinoschisis 1 DOID:0060763 DOID -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked oio:hasExactSynonym oio:hasRelatedSynonym SED DOID:0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004985 updated SED DOID:0112280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis DOID:0111767 X-linked thrombocytopenia with beta-thalassemia OMIM:314050 updated thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis DOID:0111767 DOID MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym VACTERLX DOID:0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:314390 updated VACTERLX DOID:0111766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010763 spermatogenic failure, Y-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym SPGFY1 DOID:0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:400042, MONDO:Lexical updated SPGFY1 DOID:0070186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29412,7 +28736,6 @@ MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym Marsden syndrome DOID:0111755 Leber hereditary optic neuropathy and dystonia OMIM:500001 updated Marsden syndrome DOID:0111755 DOID MONDO:0010772 Leber optic atrophy and dystonia oio:hasExactSynonym oio:hasRelatedSynonym LDYT DOID:0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0008476 updated LDYT DOID:0111755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 oio:hasExactSynonym oio:hasRelatedSynonym MLASA3 DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:500011, MONDO:Lexical updated MLASA3 DOID:0111184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Cytopathy mitochondrial Cytopathy mitochondrial cytopathy DOID:699 mitochondrial myopathy OMIM:530000 updated mitochondrial Cytopathy DOID:699 DOID MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome GARD:0000347 updated congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease DOID:0111733 DOID MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis and congenital heart defects DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome OMIM:600001 updated pancreatic agenesis and congenital heart defects DOID:0111733 DOID MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym HDCA DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600001, MONDO:Lexical updated HDCA DOID:0111733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29427,7 +28750,6 @@ MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynony MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A OMIM:600101 updated autosomal dominant nonsyndromic deafness 2A DOID:0110558 DOID MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A oio:hasExactSynonym oio:hasNarrowSynonym DFNA2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600101, DOID:0110558, MONDO:Lexical updated DFNA2A DOID:0110558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 Parkinson's disease 2 DOID:0060368 updated autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 DOID -MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome DOID:0060237 Warburg micro syndrome OMIM:600118 updated micro syndrome DOID:0060237 DOID MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 Warburg micro syndrome 1 DOID:0110716 Warburg micro syndrome 1 OMIM:600118 updated WARBURG micro syndrome 1 DOID:0110716 DOID MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853 updated AGPS deficiency DOID:0110853 DOID MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym alkyldihydroxyacetonephosphate synthase deficiency alkyldihydroxyacetonephosphate synthase deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853, OMIM:600121 updated alkyldihydroxyacetonephosphate synthase deficiency DOID:0110853 DOID @@ -29438,10 +28760,6 @@ MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSy MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia 2 DOID:0070298 multiple epiphyseal dysplasia 2 GARD:0009791 updated multiple epiphyseal dysplasia 2 DOID:0070298 DOID MONDO:0010844 epiphyseal dysplasia, multiple, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDM2 DOID:0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600204 updated EDM2 DOID:0070298 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010849 palmoplantar keratoderma, Bothnian type oio:hasExactSynonym oio:hasRelatedSynonym PPKB DOID:0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600231 updated PPKB DOID:0111707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia FRONTOTEMPORAL DEMENTIA DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:Lexical, OMIM:600274 updated frontotemporal dementia DOID:0111227 DOID -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym Pallidopontonigral Degeneration Pallidopontonigral Degeneration pallidopontonigral degeneration DOID:9255 frontotemporal dementia OMIM:600274 updated Pallidopontonigral Degeneration DOID:9255 DOID -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia DOID:9255 frontotemporal dementia MONDO:Lexical, OMIM:600274 updated frontotemporal dementia DOID:9255 DOID -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym multiple system tauopathy with presenile dementia DOID:9255 frontotemporal dementia OMIM:600274 updated multiple system tauopathy with presenile dementia DOID:9255 DOID MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 DOID:0110488 updated autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 DOID MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 OMIM:600316 updated autosomal recessive nonsyndromic deafness 3 DOID:0110488 DOID MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym oio:hasNarrowSynonym DFNB3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110488, MONDO:Lexical, OMIM:600316 updated DFNB3 DOID:0110488 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29460,7 +28778,6 @@ MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym lo MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A DOID:0110573 updated autosomal dominant deafness 4A DOID:0110573 DOID MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A OMIM:600652 updated autosomal dominant nonsyndromic deafness 4A DOID:0110573 DOID MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynonym oio:hasNarrowSynonym DFNA4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110573, MONDO:Lexical, OMIM:600652 updated DFNA4A DOID:0110573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical updated D-2-hydroxyglutaric aciduria 1 DOID:0111351 DOID MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 autosomal recessive nonsyndromic deafness 4 DOID:0110498 updated autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 DOID MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 OMIM:600791 updated autosomal recessive nonsyndromic deafness 4 DOID:0110498 DOID MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 oio:hasExactSynonym oio:hasNarrowSynonym DFNB4 DOID:0110498 autosomal recessive nonsyndromic deafness 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110498, MONDO:Lexical, OMIM:600791 updated DFNB4 DOID:0110498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29498,8 +28815,6 @@ MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 DOID:0110575 updated autosomal dominant deafness 5 DOID:0110575 DOID MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 OMIM:600994 updated autosomal dominant nonsyndromic deafness 5 DOID:0110575 DOID MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNA5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110575, OMIM:600994, MONDO:Lexical updated DFNA5 DOID:0110575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 DOID:0110649 long QT syndrome 8 OMIM:601005 updated long QT syndrome 8 DOID:0110649 DOID -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 DOID:0110649 long QT syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 updated LQT8 DOID:0110649 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010985 epilepsy, familial adult myoclonic, 1 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 1 DOID:0111690 familial adult myoclonic epilepsy 1 OMIM:601068 updated benign adult familial myoclonic epilepsy 1 DOID:0111690 DOID MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 DOID:0110535 updated autosomal recessive deafness 9 DOID:0110535 DOID MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 OMIM:601071 updated autosomal recessive nonsyndromic deafness 9 DOID:0110535 DOID @@ -29518,7 +28833,6 @@ MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oio:hasExactSynony MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYME-Gripp syndrome AYME-Gripp syndrome Ayme-Gripp syndrome DOID:0111688 Ayme-Gripp syndrome OMIM:601088 updated AYME-Gripp syndrome DOID:0111688 DOID MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601088 updated cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation DOID:0111688 DOID MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym oio:hasRelatedSynonym AYGRP DOID:0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601088 updated AYGRP DOID:0111688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym sudden unexplained nocturnal death syndrome DOID:0050451 Brugada syndrome OMIM:601144 updated sudden unexplained nocturnal death syndrome DOID:0050451 DOID MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 syndromic microphthalmia 9 OMIM:601186 updated anophthalmia/microphthalmia and pulmonary hypoplasia DOID:0111807 DOID MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 syndromic microphthalmia 9 GARD:0000713 updated clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations DOID:0111807 DOID MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 syndromic microphthalmia 9 GARD:0000713 updated pulmonary agenesis microphthalmi and diaphragmatic defect DOID:0111807 DOID @@ -29538,8 +28852,6 @@ MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia diffuse cystic DOID:0111682 diffuse cystic renal dysplasia GARD:0004658 updated renal dysplasia diffuse cystic DOID:0111682 DOID MONDO:0011037 renal dysplasia, cystic, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym CYSRD DOID:0111682 diffuse cystic renal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601331, MONDO:Lexical updated CYSRD DOID:0111682 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome DOID:0081441 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 updated NICOLAIDES-Baraitser syndrome DOID:0081441 DOID -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS DOID:7400 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 updated NBS DOID:7400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction DOID:3526 cerebral infarction OMIM:601367 updated cerebral infarction DOID:3526 DOID MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke DOID:6713 cerebrovascular disease DOID:6713 updated stroke DOID:6713 DOID MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA DOID:6713 cerebrovascular disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 updated CVA DOID:6713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 9 DOID:0110593 autosomal dominant nonsyndromic deafness 9 DOID:0110593 updated autosomal dominant deafness 9 DOID:0110593 DOID @@ -29563,13 +28875,10 @@ MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynony MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A OMIM:601544 updated autosomal dominant nonsyndromic deafness 3A DOID:0110564 DOID MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A oio:hasExactSynonym oio:hasNarrowSynonym DFNA3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110564, OMIM:601544, MONDO:Lexical updated DFNA3A DOID:0110564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD1 DOID:0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601675, MONDO:Lexical updated TTD1 DOID:0111873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym Tay syndrome DOID:2960 photosensitive trichothiodystrophy OMIM:601675 updated Tay syndrome DOID:2960 DOID -MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym oio:hasRelatedSynonym trichothiodystrophy with congenital ichthyosis DOID:2960 photosensitive trichothiodystrophy OMIM:601675 updated trichothiodystrophy with congenital ichthyosis DOID:2960 DOID MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 18Q- syndrome 18Q- syndrome 18q- syndrome DOID:0060407 chromosome 18q deletion syndrome OMIM:601808 updated 18Q- syndrome DOID:0060407 DOID MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 DOID:0111411 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical updated EVR4 DOID:0111411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 familial hyperinsulinemic hypoglycemia 2 OMIM:601820 updated hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia DOID:0070218 DOID MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 DOID:0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical updated HHF2 DOID:0070218 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis DOID:13317 hyperinsulinemic hypoglycemia OMIM:601820 updated nesidioblastosis DOID:13317 DOID MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 DOID:0110545 updated autosomal dominant deafness 13 DOID:0110545 DOID MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 OMIM:601868 updated autosomal dominant nonsyndromic deafness 13 DOID:0110545 DOID MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNA13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110545, OMIM:601868, MONDO:Lexical updated DFNA13 DOID:0110545 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29581,7 +28890,6 @@ MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynon MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB72 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 updated DFNB72 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym oio:hasNarrowSynonym DFNB95 DOID:0110470 autosomal recessive nonsyndromic deafness 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110470 updated DFNB95 DOID:0110470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011162 cataract 14 multiple types oio:hasNarrowSynonym oio:hasRelatedSynonym CAE3 Cae3 CAE3 DOID:0110253 cataract 14 multiple types http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601885 updated CAE3 DOID:0110253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011176 intestinal hypomagnesemia 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMG Homg HOMG DOID:0060879 primary hypomagnesemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602014 updated HOMG DOID:0060879 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011177 ectodermal dysplasia 4, hair/nail type oio:hasExactSynonym oio:hasRelatedSynonym ECTD4 DOID:0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602032 updated ECTD4 DOID:0111658 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym articulatory apraxia DOID:0111275 speech-language disorder-1 GARD:0012889 updated articulatory apraxia DOID:0111275 DOID MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym oio:hasRelatedSynonym developmental apraxia of speech DOID:0111275 speech-language disorder-1 GARD:0012889 updated developmental apraxia of speech DOID:0111275 DOID @@ -29590,7 +28898,6 @@ MONDO:0011190 nephronophthisis 2 oio:hasExactSynonym oio:hasRelatedSynonym NPH2 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A DOID:0110473 updated autosomal recessive deafness 18A DOID:0110473 DOID MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A OMIM:602092 updated autosomal recessive nonsyndromic deafness 18A DOID:0110473 DOID MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A oio:hasExactSynonym oio:hasNarrowSynonym DFNB18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110473, OMIM:602092 updated DFNB18A DOID:0110473 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy DOID:0050795 cone dystrophy OMIM:602093 updated retinal cone dystrophy DOID:0050795 DOID MONDO:0011193 cone dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy 14 DOID:0080314 cone-rod dystrophy 14 OMIM:602093 updated cone-rod dystrophy 14 DOID:0080314 DOID MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer's disease 5 DOID:0110037 Alzheimer's disease 5 DOID:0110037 updated Alzheimer's disease 5 DOID:0110037 DOID MONDO:0011194 Alzheimer disease 5 oio:hasExactSynonym oio:hasRelatedSynonym AD5 Ad5 AD5 DOID:0110037 Alzheimer's disease 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602096 updated AD5 DOID:0110037 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29676,7 +28983,6 @@ MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio: MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 DOID:0110547 updated autosomal dominant deafness 16 DOID:0110547 DOID MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 OMIM:603964 updated autosomal dominant nonsyndromic deafness 16 DOID:0110547 DOID MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 updated DFNA16 DOID:0110547 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts oio:hasExactSynonym oio:hasRelatedSynonym megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004, MONDO:Lexical updated megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 DOID MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 DOID:0110478 updated autosomal recessive deafness 20 DOID:0110478 DOID MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 OMIM:604060 updated autosomal recessive nonsyndromic deafness 20 DOID:0110478 DOID MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNB20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604060, DOID:0110478, MONDO:Lexical updated DFNB20 DOID:0110478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29684,7 +28990,6 @@ MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRe MONDO:0011414 Peters anomaly oio:hasExactSynonym oio:hasRelatedSynonym anterior segment dysgenesis 5 DOID:0080610 anterior segment dysgenesis 5 OMIM:604229 updated anterior segment dysgenesis 5 DOID:0080610 DOID MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP1 DOID:0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604233, MONDO:Lexical updated GEFSP1 DOID:0111302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E oio:hasExactSynonym oio:hasBroadSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E Orphanet:119, DOID:0110279 updated beta-sarcoglycanopathy DOID:0110279 DOID -MONDO:0011426 aceruloplasminemia oio:hasExactSynonym oio:hasBroadSynonym cerebellar ataxia DOID:0050753 cerebellar ataxia OMIM:genemap2, OMIM:604290 updated cerebellar ataxia DOID:0050753 DOID MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym acute juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 updated acute juvenile rheumatoid arthritis DOID:676 DOID MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis DOID:676 juvenile rheumatoid arthritis DOID:676 updated juvenile chronic polyarthritis DOID:676 DOID MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym monarticular juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis DOID:676 updated monarticular juvenile rheumatoid arthritis DOID:676 DOID @@ -29696,11 +29001,9 @@ MONDO:0011437 microcephaly 4, primary, autosomal recessive oio:hasExactSynonym o MONDO:0011443 febrile seizures, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FEB4 DOID:0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604352 updated FEB4 DOID:0111305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011448 PPARG-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy associated with PPARG mutations DOID:0070204 familial partial lipodystrophy type 3 GARD:0012600 updated familial partial lipodystrophy associated with PPARG mutations DOID:0070204 DOID MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym NPH3 Nph3 NPH3 DOID:0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604387 updated NPH3 DOID:0111114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy DOID:0050572 cone-rod dystrophy OMIM:genemap2, OMIM:604393 updated cone-rod dystrophy DOID:0050572 DOID MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 DOID:0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 updated GEFSP2 DOID:0111294 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 PAPA syndrome GARD:0009176 updated pyogenic arthritis, pyoderma gangrenosum and acne DOID:0080519 DOID MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Soldiers heart Soldiers heart soldiers heart DOID:0111154 postural orthostatic tachycardia syndrome OMIM:604715 updated Soldiers heart DOID:0111154 DOID -MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym neurocirculatory asthenia DOID:11569 neurocirculatory asthenia OMIM:604715, DOID:0111154 updated neurocirculatory asthenia DOID:11569 DOID MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 DOID:0110550 updated autosomal dominant deafness 20 DOID:0110550 DOID MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 OMIM:604717 updated autosomal dominant nonsyndromic deafness 20 DOID:0110550 DOID MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 oio:hasExactSynonym oio:hasNarrowSynonym DFNA20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110550, OMIM:604717, MONDO:Lexical updated DFNA20 DOID:0110550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29785,7 +29088,6 @@ MONDO:0011716 acute hemorrhagic leukoencephalitis oio:hasExactSynonym oio:hasRel MONDO:0011717 hyperinsulinism-hyperammonemia syndrome oio:hasExactSynonym oio:hasRelatedSynonym HHF6 DOID:0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606762, MONDO:Lexical updated HHF6 DOID:0070217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011720 spermatogenic failure 3 oio:hasExactSynonym oio:hasRelatedSynonym SPGF3 DOID:0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606766 updated SPGF3 DOID:0070168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011721 distal myopathy with anterior tibial onset oio:hasExactSynonym oio:hasRelatedSynonym DMAT DOID:0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606768 updated DMAT DOID:0111187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transporter type 1 deficiency syndrome DOID:0070560 glucose transporter type 1 deficiency syndrome MESH:C536830 updated glucose transporter type 1 deficiency syndrome DOID:0070560 DOID MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome 1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 MONDO:Lexical, MESH:C536830, OMIM:606777 updated GLUT1 deficiency syndrome 1 DOID:0070561 DOID MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 updated GLUT1DS1 DOID:0070561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011730 fumaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym FMRD DOID:0111261 fumarase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606812 updated FMRD DOID:0111261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29812,7 +29114,6 @@ MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynon MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN3 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 updated dHMN3 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym dHMN4 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607088 updated dHMN4 DOID:0111211 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId DOID:0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607091 updated CDG IId DOID:0070256 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 DOID:0050640 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 updated anauxetic dysplasia 1 DOID:0050640 DOID MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 DOID:0110489 updated autosomal recessive deafness 30 DOID:0110489 DOID MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 OMIM:607101 updated autosomal recessive nonsyndromic deafness 30 DOID:0110489 DOID MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 updated DFNB30 DOID:0110489 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29822,7 +29123,6 @@ MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym Perenia MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym atopic rhinitis DOID:4481 allergic rhinitis DOID:4481 updated atopic rhinitis DOID:4481 DOID MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 updated non-seasonal allergic rhinitis DOID:4481 DOID MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis DOID:4481 allergic rhinitis DOID:4481 updated seasonal allergic rhinitis DOID:4481 DOID -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma DOID:3565 meningioma OMIM:genemap2, OMIM:607174 updated meningioma DOID:3565 DOID MONDO:0011792 thyroid dyshormonogenesis 6 oio:hasExactSynonym oio:hasRelatedSynonym TDH6 DOID:0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607200 updated TDH6 DOID:0112189 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 DOID:0110492 updated autosomal recessive deafness 33 DOID:0110492 DOID MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 OMIM:607239 updated autosomal recessive nonsyndromic deafness 33 DOID:0110492 DOID @@ -29831,7 +29131,6 @@ MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS DOID:0110116 autoimmune lymphoproliferative syndrome type 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 updated CEDS DOID:0110116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 24 DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 updated spinocerebellar ataxia 24 DOID:0111611 DOID MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia with saccadic intrusions DOID:0111611 autosomal recessive spinocerebellar ataxia 4 OMIM:607317 updated spinocerebellar ataxia with saccadic Intrusions DOID:0111611 DOID -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia DOID:0060247 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 updated Smith-McCort dysplasia DOID:0060247 DOID MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 Smith-McCort dysplasia 1 DOID:0081270 Smith-McCort dysplasia 1 OMIM:607326 updated SMITH-McCort dysplasia 1 DOID:0081270 DOID MONDO:0011821 Meckel syndrome, type 3 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome 3 DOID:0070117 Meckel syndrome 3 DOID:0070117 updated Meckel syndrome 3 DOID:0070117 DOID MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym CoQ deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 updated CoQ deficiency 1 DOID:0070238 DOID @@ -29839,8 +29138,6 @@ MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRel MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym coenzyme Q deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 updated coenzyme Q deficiency 1 DOID:0070238 DOID MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym ubiquinone deficiency 1 DOID:0070238 primary coenzyme Q10 deficiency 1 OMIM:607426 updated ubiquinone deficiency 1 DOID:0070238 DOID MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym COQ10D1 DOID:0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607426, MONDO:Lexical updated COQ10D1 DOID:0070238 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 updated subcortical band heterotopia DOID:0111169 DOID -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia DOID:0111169 subcortical band heterotopia OMIM:607432 updated subcortical laminar heterotopia DOID:0111169 DOID MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym lissencephaly 1 DOID:0112237 lissencephaly 1 MONDO:Lexical, OMIM:607432 updated lissencephaly 1 DOID:0112237 DOID MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym LIS1 DOID:0112237 lissencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607432, MONDO:Lexical updated LIS1 DOID:0112237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 44 DOID:0110569 autosomal dominant nonsyndromic deafness 44 DOID:0110569 updated autosomal dominant deafness 44 DOID:0110569 DOID @@ -29850,9 +29147,6 @@ MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, AVELLINO type corneal dystrophy, AVELLINO type corneal dystrophy, Avellino type DOID:0060444 granular corneal dystrophy 2 OMIM:607541, MONDO:Lexical updated corneal dystrophy, AVELLINO type DOID:0060444 DOID MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym SmD with bowed forearms and Facial Dysmorphism SmD with bowed forearms and Facial Dysmorphism SMD with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 updated SmD with bowed forearms and Facial Dysmorphism DOID:0112305 DOID MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism OMIM:607543 updated spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 DOID -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 updated pontocerebellar hypoplasia with anterior horn cell disease DOID:0112322 DOID -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 pontocerebellar hypoplasia type 1 OMIM:607596 updated pontocerebellar hypoplasia with infantile spinal muscular atrophy DOID:0112322 DOID -MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1 Pch1 PCH1 DOID:0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596 updated PCH1 DOID:0112322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID syndrome DOID:0060833 Griscelli syndrome type 2 OMIM:607624 updated Paid syndrome DOID:0060833 DOID MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-Pick disease type C2 DOID:0070114 Niemann-Pick disease type C2 GARD:0003992 updated Niemann-Pick disease type C2 DOID:0070114 DOID MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym oio:hasRelatedSynonym DHMN7B Dhmn7B DHMN7B DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607641 updated DHMN7B DOID:0111202 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29860,9 +29154,6 @@ MONDO:0011879 neuronopathy, distal hereditary motor, type 7B oio:hasExactSynonym MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 oio:hasExactSynonym oio:hasRelatedSynonym EIG9 DOID:0111323 idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607682 updated EIG9 DOID:0111323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 updated dentoleukoencephalopathy DOID:0060794 DOID MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 updated hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 DOID -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 updated Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 DOID -MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 congenital bile acid synthesis defect OMIM:607765 updated 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency DOID:0050674 DOID -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia DOID:0080188 chronic myelomonocytic leukemia NCIT:C9233 updated chronic myelomonocytic leukemia DOID:0080188 DOID MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D oio:hasExactSynonym oio:hasRelatedSynonym DI-CMTD Di-Cmtd DI-CMTD DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607791 updated DI-CMTD DOID:0110200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 DOID:0110495 updated autosomal recessive deafness 37 DOID:0110495 DOID MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 OMIM:607821 updated autosomal recessive nonsyndromic deafness 37 DOID:0110495 DOID @@ -29875,7 +29166,6 @@ MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 oio:hasExactSynony MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasRelatedSynonym oio:hasExactSynonym subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome Orphanet:1606, DOID:0060410 updated subtelomeric 1p36 deletion DOID:0060410 DOID MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym benign adult familial myoclonic epilepsy 2 DOID:0111692 familial adult myoclonic epilepsy 2 OMIM:607876 updated benign adult familial myoclonic epilepsy 2 DOID:0111692 DOID MONDO:0011930 epilepsy, familial adult myoclonic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FAME2 DOID:0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607876 updated FAME2 DOID:0111692 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011935 retinitis pigmentosa 30 oio:hasExactSynonym oio:hasRelatedSynonym macular Degeneration macular Degeneration macular degeneration DOID:4448 macular degeneration OMIM:607921 updated macular Degeneration DOID:4448 DOID MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 syndromic microphthalmia 6 GARD:0003645 updated anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia DOID:0111805 DOID MONDO:0011936 microphthalmia with brain and digit anomalies oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia and pituitary anomalies DOID:0111805 syndromic microphthalmia 6 OMIM:607932 updated microphthalmia and pituitary anomalies DOID:0111805 DOID MONDO:0011937 peeling skin syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis bullosa of Siemens-like DOID:0070523 peeling skin syndrome 4 OMIM:607936 updated ichthyosis bullosa of Siemens-like DOID:0070523 DOID @@ -29896,7 +29186,6 @@ MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 oio:hasExactSynon MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 DOID:0110567 updated autosomal dominant deafness 41 DOID:0110567 DOID MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 OMIM:608224 updated autosomal dominant nonsyndromic deafness 41 DOID:0110567 DOID MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 oio:hasExactSynonym oio:hasNarrowSynonym DFNA41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608224, DOID:0110567 updated DFNA41 DOID:0110567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive oio:hasRelatedSynonym oio:hasExactSynonym CML DOID:1036 chronic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3174, MONDO:Lexical, DOID:8552, OMIM:608232, Orphanet:521 updated CML DOID:1036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 DOID:0110499 updated autosomal recessive deafness 40 DOID:0110499 DOID MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 OMIM:608264 updated autosomal recessive nonsyndromic deafness 40 DOID:0110499 DOID MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 oio:hasExactSynonym oio:hasNarrowSynonym DFNB40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110499, MONDO:Lexical, OMIM:608264 updated DFNB40 DOID:0110499 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -29920,9 +29209,6 @@ MONDO:0012029 microcephaly 6, primary, autosomal recessive oio:hasExactSynonym o MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 DOID:0110568 updated autosomal dominant deafness 43 DOID:0110568 DOID MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 OMIM:608394 updated autosomal dominant nonsyndromic deafness 43 DOID:0110568 DOID MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 oio:hasExactSynonym oio:hasNarrowSynonym DFNA43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110568, MONDO:Lexical, OMIM:608394 updated DFNA43 DOID:0110568 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym clinical depression DOID:1470 major depressive disorder DOID:1595 updated clinical depression DOID:1470 DOID -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder DOID:1470 major depressive disorder MONDO:Lexical, OMIM:608516 updated major depressive disorder DOID:1470 DOID -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression DOID:1470 major depressive disorder OMIM:608516, DOID:1595 updated unipolar depression DOID:1470 DOID MONDO:0012054 schizophrenia 12 oio:hasExactSynonym oio:hasRelatedSynonym SCZD12 Sczd12 SCZD12 DOID:0070088 schizophrenia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608543 updated SCZD12 DOID:0070088 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 DOID:0110493 updated autosomal recessive deafness 35 DOID:0110493 DOID MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 OMIM:608565 updated autosomal recessive nonsyndromic deafness 35 DOID:0110493 DOID @@ -29950,7 +29236,6 @@ MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012139 macular dystrophy, retinal, 3 oio:hasExactSynonym oio:hasRelatedSynonym MCDR3 DOID:0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608850 updated MCDR3 DOID:0070440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HLH3 Hlh3 HLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 updated HLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym HPLH3 Hplh3 HPLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608898 updated HPLH3 DOID:0110923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical updated PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome 1B DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 updated congenital myasthenic syndrome 1B DOID:0110662 DOID MONDO:0012157 congenital myasthenic syndrome 4C oio:hasExactSynonym oio:hasRelatedSynonym CMS Id Cms Id CMS Id DOID:0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608931 updated CMS Id DOID:0110679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy OMIM:608940, MONDO:Lexical updated spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 DOID @@ -30037,8 +29322,6 @@ MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:has MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 DOID:0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 updated HHF4 DOID:0070215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 DOID:0111967 immunodeficiency 54 OMIM:609981 updated immunodeficiency 54 DOID:0111967 DOID MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD54 DOID:0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609981 updated IMD54 DOID:0111967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym neuronal ceroid lipofuscinosis 8 DOID:0110723 neuronal ceroid lipofuscinosis 8 GARD:0004010 updated neuronal ceroid lipofuscinosis 8 DOID:0110723 DOID -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 DOID:0110723 neuronal ceroid lipofuscinosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 updated CLN8 DOID:0110723 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital glutamine deficiency DOID:0070544 congenital glutamine deficiency GARD:0009848 updated congenital glutamine deficiency DOID:0070544 DOID MONDO:0012396 exercise-induced hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym HHF7 DOID:0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610021, MONDO:Lexical updated HHF7 DOID:0070214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0012400 cortical dysplasia-focal epilepsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym PTHSL1 DOID:0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610042 updated PTHSL1 DOID:0090130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30231,7 +29514,6 @@ MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExa MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD4 DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612998, MONDO:Lexical updated EDMD4 DOID:0070249 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 5, autosomal dominant EMERY-Dreifuss muscular dystrophy 5, autosomal dominant Emery-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 OMIM:612999 updated EMERY-Dreifuss muscular dystrophy 5, autosomal dominant DOID:0070250 DOID MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD5 DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612999, MONDO:Lexical updated EDMD5 DOID:0070250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym focal nonepidermolytic palmoplantar keratoderma DOID:0111708 focal nonepidermolytic palmoplantar keratoderma OMIM:613000 updated focal nonepidermolytic palmoplantar keratoderma DOID:0111708 DOID MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 oio:hasExactSynonym oio:hasRelatedSynonym FNEPPK1 DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613000 updated FNEPPK1 DOID:0111709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 2 biliary cirrhosis, primary, 2 BILIARY CIRRHOSIS, PRIMARY, 2 DOID:0070359 primary biliary cholangitis 2 OMIM:613007, MONDO:Lexical updated biliary cirrhosis, primary, 2 DOID:0070359 DOID MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSynonym PBC2 DOID:0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613007, MONDO:Lexical updated PBC2 DOID:0070359 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30362,7 +29644,6 @@ MONDO:0013492 alopecia-intellectual disability syndrome 3 oio:hasExactSynonym oi MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 updated IMD51 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym CANDF5 DOID:0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953, MONDO:Lexical updated CANDF5 DOID:0111996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 DOID:0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 updated SPGF8 DOID:0070169 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0013506 schizophrenia 16 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7Q36.3 Duplication syndrome, 362-Kb chromosome 7Q36.3 Duplication syndrome, 362-Kb Chromosome 7q36.3 Duplication Syndrome, 362-Kb DOID:0070093 schizophrenia 18 OMIM:613959 updated chromosome 7Q36.3 Duplication syndrome, 362-Kb DOID:0070093 DOID MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 oio:hasExactSynonym oio:hasRelatedSynonym CDG3 DOID:0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613960 updated CDG3 DOID:0070194 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013509 intellectual disability, autosomal dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 autosomal dominant intellectual developmental disorder 6 DOID:0070036 updated autosomal dominant non-syndromic intellectual disability 6 DOID:0070036 DOID MONDO:0013512 hemoglobin H disease oio:hasExactSynonym oio:hasRelatedSynonym HEMOGLOBIN H disease HEMOGLOBIN H disease hemoglobin H disease DOID:0110031 hemoglobin H disease OMIM:613978 updated HEMOGLOBIN H disease DOID:0110031 DOID @@ -30382,7 +29663,6 @@ MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynon MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym oio:hasNarrowSynonym DFNB29 DOID:0110487 autosomal recessive nonsyndromic deafness 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110487, OMIM:614035 updated DFNB29 DOID:0110487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement oio:hasExactSynonym oio:hasRelatedSynonym MPD4 DOID:0111190 distal myopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614065 updated MPD4 DOID:0111190 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013554 psoriasis 13, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym PSORS13 DOID:0111287 psoriasis 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614070, MONDO:Lexical updated PSORS13 DOID:0111287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 updated multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 DOID MONDO:0013570 combined oxidative phosphorylation defect type 8 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 8 DOID:0111479 combined oxidative phosphorylation deficiency 8 MONDO:Lexical, OMIM:614096 updated combined oxidative phosphorylation deficiency 8 DOID:0111479 DOID MONDO:0013573 cranioectodermal dysplasia 3 oio:hasExactSynonym oio:hasRelatedSynonym CRANIOECTODERMAL dysplasia 3 CRANIOECTODERMAL dysplasia 3 cranioectodermal dysplasia 3 DOID:0080805 cranioectodermal dysplasia 3 OMIM:614099 updated CRANIOECTODERMAL dysplasia 3 DOID:0080805 DOID MONDO:0013578 DYRK1A-related intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 autosomal dominant intellectual developmental disorder 7 DOID:0070037 updated autosomal dominant non-syndromic intellectual disability 7 DOID:0070037 DOID @@ -30406,7 +29686,6 @@ MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013612 geleophysic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym GPHYSD2 DOID:0111726 geleophysic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614185 updated GPHYSD2 DOID:0111726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 oio:hasExactSynonym oio:hasRelatedSynonym PPNAD3 DOID:0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614190 updated PPNAD3 DOID:0070548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013625 Parkinson disease 17 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson's disease 17 DOID:0060897 Parkinson's disease 17 DOID:0060897 updated Parkinson's disease 17 DOID:0060897 DOID -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis DOID:4398 pustulosis of palm and sole OMIM:614204 updated palmoplantar pustulosis DOID:4398 DOID MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 OMIM:614207 updated glycosylphosphatidylinositol biosynthesis defect 8 DOID:0070435 DOID MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS3 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614207 updated HPMRS3 DOID:0070435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 33 DOID:0110562 autosomal dominant nonsyndromic deafness 33 DOID:0110562 updated autosomal dominant deafness 33 DOID:0110562 DOID @@ -30491,7 +29770,6 @@ MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym a MONDO:0013897 Loeys-Dietz syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym LDS4 DOID:0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614816 updated LDS4 DOID:0070233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus spermatogenic failure with defective sperm annulus Spermatogenic failure with defective sperm annulus DOID:0070178 spermatogenic failure 10 OMIM:614822 updated spermatogenic failure with defective sperm annulus DOID:0070178 DOID MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 DOID:0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical updated SPGF10 DOID:0070178 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis DOID:1712 aortic valve stenosis OMIM:614823 updated aortic valve stenosis DOID:1712 DOID MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA8 DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614830, MONDO:Lexical updated MDDGA8 DOID:0111231 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013923 microcephaly 9, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH9 DOID:0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614852 updated MCPH9 DOID:0070292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 98 DOID:0110540 autosomal recessive nonsyndromic deafness 98 DOID:0110540 updated autosomal recessive deafness 98 DOID:0110540 DOID @@ -30562,7 +29840,6 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:h MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 56 DOID:0111982 immunodeficiency 56 OMIM:615207 updated immunodeficiency 56 DOID:0111982 DOID MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym IMD56 DOID:0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615207 updated IMD56 DOID:0111982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014087 Smith-McCort dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 2 SMITH-McCort dysplasia 2 Smith-McCort dysplasia 2 DOID:0081271 Smith-McCort dysplasia 2 OMIM:615222 updated SMITH-McCort dysplasia 2 DOID:0081271 DOID -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder DOID:5418 schizoaffective disorder OMIM:615232 updated schizoaffective disorder DOID:5418 DOID MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA12 DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615249 updated MDDGA12 DOID:0111235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268 updated cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 DOID:0070559 DOID MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ4 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:615268, MONDO:Lexical updated CAMRQ4 DOID:0070559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30615,7 +29892,6 @@ MONDO:0014242 van Maldergem syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0014245 Diamond-Blackfan anemia 12 oio:hasExactSynonym oio:hasRelatedSynonym DBA12 DOID:0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615550 updated DBA12 DOID:0111882 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014246 episodic pain syndrome, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym FEPS2 DOID:0111730 familial episodic pain syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615551 updated FEPS2 DOID:0111730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement oio:hasExactSynonym oio:hasRelatedSynonym FEPS3 DOID:0111731 familial episodic pain syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615552 updated FEPS3 DOID:0111731 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasBroadSynonym hypobetalipoproteinemia DOID:1390 hypobetalipoproteinemia OMIM:615558, OMIM:genemap2 updated hypobetalipoproteinemia DOID:1390 DOID MONDO:0014259 neuronopathy, distal hereditary motor, type 2D oio:hasExactSynonym oio:hasRelatedSynonym HMN2D DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615575, MONDO:Lexical updated HMN2D DOID:0111210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 18 DOID:0111484 combined oxidative phosphorylation deficiency 18 MONDO:Lexical, OMIM:615578 updated combined oxidative phosphorylation deficiency 18 DOID:0111484 DOID MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym COXPD18 DOID:0111484 combined oxidative phosphorylation deficiency 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615578, MONDO:Lexical updated COXPD18 DOID:0111484 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30647,7 +29923,6 @@ MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oi MONDO:0014300 proximal myopathy with extrapyramidal signs oio:hasExactSynonym oio:hasRelatedSynonym MPXPS DOID:0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615673, MONDO:Lexical updated MPXPS DOID:0111335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 20 DOID:0111941 immunodeficiency 20 OMIM:615707, MONDO:Lexical updated immunodeficiency 20 DOID:0111941 DOID MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oio:hasExactSynonym oio:hasRelatedSynonym IMD20 DOID:0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615707 updated IMD20 DOID:0111941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 oio:hasExactSynonym oio:hasRelatedSynonym HPMRS4 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615716 updated HPMRS4 DOID:0070437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse oio:hasExactSynonym oio:hasRelatedSynonym PPKNEFD DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615735 updated PPKNEFD DOID:0111710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 22 DOID:0111937 immunodeficiency 22 OMIM:615758, MONDO:Lexical updated immunodeficiency 22 DOID:0111937 DOID MONDO:0014334 severe combined immunodeficiency due to LCK deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD22 DOID:0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615758 updated IMD22 DOID:0111937 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30682,7 +29957,6 @@ MONDO:0014399 ataxia-telangiectasia-like disorder 2 oio:hasExactSynonym oio:hasR MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym Miura type epiphyseal chondrodysplasia DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 updated Miura type epiphyseal chondrodysplasia DOID:0070316 DOID MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome oio:hasExactSynonym oio:hasRelatedSynonym ECDM DOID:0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615923 updated ECDM DOID:0070316 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome XIV DOID:0060958 orofaciodigital syndrome XIV MONDO:Lexical, OMIM:615948 updated orofaciodigital syndrome XIV DOID:0060958 DOID -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:615954 updated primary macronodular adrenal hyperplasia DOID:0111622 DOID MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 updated AIMAH2 DOID:0111624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014418 myopathy, centronuclear, 5 oio:hasExactSynonym oio:hasRelatedSynonym CNM5 DOID:0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615959, MONDO:Lexical updated CNM5 DOID:0111222 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD26 DOID:0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615966 updated IMD26 DOID:0111961 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30690,7 +29964,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 OMIM:615974 updated autosomal recessive nonsyndromic deafness 102 DOID:0110463 DOID MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym oio:hasNarrowSynonym DFNB102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110463, OMIM:615974, MONDO:Lexical updated DFNB102 DOID:0110463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial partial lipodystrophy type 6 DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 updated familial partial lipodystrophy type 6 DOID:0070206 DOID -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome DOID:1935 Bardet-Biedl syndrome GARD:0000821 updated Bardet-Biedl syndrome DOID:1935 DOID MONDO:0014453 immunodeficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym IMD36 DOID:0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616005 updated IMD36 DOID:0111949 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCN6 DOID:0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616022, MONDO:Lexical updated SCN6 DOID:0112134 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 OMIM:616025 updated glycosylphosphatidylinositol biosynthesis defect 11 DOID:0070432 DOID @@ -30745,7 +30018,6 @@ MONDO:0014571 optic atrophy 9 oio:hasExactSynonym oio:hasRelatedSynonym OPA9 D MONDO:0014572 Lichtenstein-Knorr syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia 19 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 updated autosomal recessive spinocerebellar ataxia 19 DOID:0080065 DOID MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 PLACK syndrome MONDO:Lexical, OMIM:616295 updated peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads DOID:0070526 DOID MONDO:0014580 intellectual disability, autosomal dominant 33 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 autosomal dominant intellectual developmental disorder 33 DOID:0070063 updated autosomal dominant non-syndromic intellectual disability 33 DOID:0070063 DOID -MONDO:0014581 congenital myasthenic syndrome 2A oio:hasExactSynonym oio:hasRelatedSynonym CMS IIa DOID:0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009895 updated CMS IIa DOID:0110663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014588 congenital myasthenic syndrome 11 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ie Cms Ie CMS Ie DOID:0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616326 updated CMS Ie DOID:0110675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 DOID:0110588 updated autosomal dominant deafness 67 DOID:0110588 DOID MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 OMIM:616340 updated autosomal dominant nonsyndromic deafness 67 DOID:0110588 DOID @@ -30779,7 +30051,6 @@ MONDO:0014637 DOCK2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym IMD40 MONDO:0014652 exudative vitreoretinopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym EVR6 DOID:0111410 exudative vitreoretinopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616468 updated EVR6 DOID:0111410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOB2 DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616479 updated PEOB2 DOID:0111515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0014660 microcephaly 15, primary, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MCPH15 DOID:0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616486 updated MCPH15 DOID:0070277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement DOID:0111022 cone-rod dystrophy 16 OMIM:616502 updated retinal dystrophy with early macular involvement DOID:0111022 DOID MONDO:0014673 cataract 44 oio:hasExactSynonym oio:hasBroadSynonym total early-onset cataract DOID:0110267 cataract 44 DOID:0110267 updated total early-onset cataract DOID:0110267 DOID MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 DOID:0110465 updated autosomal recessive deafness 104 DOID:0110465 DOID MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 OMIM:616515 updated autosomal recessive nonsyndromic deafness 104 DOID:0110465 DOID @@ -30849,8 +30120,6 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym oio:hasRelatedSynonym Seligmann's disease DOID:0060126 alpha chain disease Wikipedia:Heavy_chain_disease, DOID:0060126 updated Seligmann's disease DOID:0060126 DOID MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor DOID:5457 laryngeal neuroendocrine tumor DOID:5457 updated laryngeal neuroendocrine tumor DOID:5457 DOID MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour DOID:5457 laryngeal neuroendocrine tumor http://purl.obolibrary.org/obo/OMO_0003005 updated laryngeal neuroendocrine tumour DOID:5457 DOID -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer DOID:1781 thyroid cancer NCIT:C4815 updated thyroid cancer DOID:1781 DOID -MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer DOID:1781 thyroid cancer NCIT:C4815 updated thyroid gland cancer DOID:1781 DOID MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym head and neck cancer, thyroid head and neck cancer, thyroid head and neck cancer, Thyroid DOID:3963 thyroid gland carcinoma DOID:3963, NCIT:C4815 updated head and neck cancer, thyroid DOID:3963 DOID MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T cell and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency DOID:628 updated combined T cell and B cell immunodeficiency DOID:628 DOID MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis exudativa bronchiolitis exudativa Bronchiolitis exudativa DOID:2799 bronchiolitis obliterans DOID:2799 updated bronchiolitis exudativa DOID:2799 DOID @@ -30860,7 +30129,6 @@ MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Com MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasNarrowSynonym Carney Complex, type 2 Carney Complex, type 2 Carney Complex, Type 2 DOID:0050471 Carney complex DOID:0050471 updated Carney Complex, type 2 DOID:0050471 DOID MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis DOID:0050639 primary cutaneous amyloidosis DOID:0050639 updated familial primary localized cutaneous amyloidosis DOID:0050639 DOID MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lemierre's syndrome DOID:11337 Lemierre's syndrome DOID:11337 updated Lemierre's syndrome DOID:11337 DOID -MONDO:0015306 Lemierre syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute sore throat DOID:2275 pharyngitis DOID:11337 updated acute sore throat DOID:2275 DOID MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor malignant Nasopharyngeal tumor DOID:9261 nasopharynx carcinoma NCIT:C9321, DOID:9261 updated malignant nasopharyngeal tumor DOID:9261 DOID MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx DOID:9261 nasopharynx carcinoma ICD9CM:147, DOID:9261, MTH:NOCODE updated malignant neoplasm of nasopharynx DOID:9261 DOID MONDO:0015459 nasopharyngeal carcinoma oio:hasRelatedSynonym oio:hasExactSynonym carcinoma of nasopharynx DOID:9261 nasopharynx carcinoma DOID:9261, NCIT:C3871, MONDO:patterns/carcinoma updated carcinoma of nasopharynx DOID:9261 DOID @@ -30870,24 +30138,16 @@ MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelate MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia DOID:12177 common variable immunodeficiency DOID:12177 updated acquired hypogammaglobulinemia DOID:12177 DOID MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym haemophagocytic syndrome DOID:0050120 hemophagocytic lymphohistiocytosis DOID:0050120 updated haemophagocytic syndrome DOID:0050120 DOID MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 updated Chanarin-Dorfman syndrome DOID:0050729 DOID -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 DOID:0081453 Dent disease 1 DOID:0050699 updated Dent disease 1 DOID:0081453 DOID -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 DOID:0081454 Dent disease 2 DOID:0050699 updated Dent disease 2 DOID:0081454 DOID -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy DOID:0050541 Charcot-Marie-Tooth disease type 4 NCIT:C75467 updated hereditary motor and sensory neuropathy DOID:0050541 DOID -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy NCIT:C75467 updated hereditary motor and sensory neuropathy DOID:2477 DOID MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym eosinophilia DOID:999 hypereosinophilic syndrome DOID:999 updated eosinophilia DOID:999 DOID -MONDO:0015746 male infertility due to globozoospermia oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia DOID:0111156 spermatogenic failure 9 DOID:0111156 updated globozoospermia DOID:0111156 DOID MONDO:0015802 autosomal dominant non-syndromic intellectual disability oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant mental retardation DOID:0060307 autosomal dominant intellectual developmental disorder http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0060307 updated autosomal dominant mental retardation DOID:0060307 DOID -MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer DOID:119 vaginal cancer NCIT:C3917 updated vaginal cancer DOID:119 DOID MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 updated benign cystosarcoma phyllodes DOID:1631 DOID MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm benign Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor DOID:1631, NCIT:C4274 updated benign phyllodes neoplasm DOID:1631 DOID MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma phyllodes DOID:1631 benign breast phyllodes tumor DOID:1631 updated cystosarcoma phyllodes DOID:1631 DOID MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes neoplasm DOID:1631 benign breast phyllodes tumor NCIT:C2977, DOID:1631 updated phyllodes neoplasm DOID:1631 DOID -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym SBS DOID:0050693 Brooke-Spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605249, MONDO:Lexical updated SBS DOID:0050693 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical updated FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym bilateral renal aplasia DOID:0080200 bilateral renal aplasia DOID:0080200 updated bilateral renal aplasia DOID:0080200 DOID MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency DOID:9273 citrullinemia DOID:9273 updated ass deficiency DOID:9273 DOID MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy DOID:0050667 alcohol-related neurodevelopmental disorder DOID:0050667 updated static encephalopathy DOID:0050667 DOID -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-related birth defects DOID:0050668 alcohol-related birth defects Orphanet:1915 updated alcohol-related birth defects DOID:0050668 DOID MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum dysplastic Gangliocytoma of Cerebellum DOID:6457 Cowden syndrome DOID:6457, NCIT:C8419 updated dysplastic gangliocytoma of cerebellum DOID:6457 DOID MONDO:0016063 Cowden disease oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome DOID:6457 Cowden syndrome Orphanet:201, NCIT:C3076, DOID:6457 updated multiple hamartoma syndrome DOID:6457 DOID MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonic disease DOID:450 myotonic disease DOID:450 updated myotonic disease DOID:450 DOID @@ -30899,55 +30159,37 @@ MONDO:0016262 leiomyosarcoma of the corpus uteri oio:hasExactSynonym oio:hasRela MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune chronic active hepatitis autoimmune chronic active hepatitis Autoimmune chronic active hepatitis DOID:2048 autoimmune hepatitis https://emedicine.medscape.com/article/172356-overview#a3, DOID:2048 updated autoimmune chronic active hepatitis DOID:2048 DOID MONDO:0016264 autoimmune hepatitis oio:hasExactSynonym oio:hasNarrowSynonym autoimmune hepatitis with centrilobular necrosis DOID:2048 autoimmune hepatitis DOID:2048 updated autoimmune hepatitis with centrilobular necrosis DOID:2048 DOID MONDO:0016318 progressive multifocal leukoencephalopathy oio:hasRelatedSynonym oio:hasExactSynonym PML DOID:643 progressive multifocal leukoencephalopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:217260, DOID:643 updated PML DOID:643 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis DOID:14202 adult dermatomyositis Orphanet:221, GARD:0006263 updated adult dermatomyositis DOID:14202 DOID MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Balo disease DOID:0060215 Balo concentric sclerosis GARD:0005885 updated Balo disease DOID:0060215 DOID MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Tumefactive multiple sclerosis DOID:0060215 Balo concentric sclerosis GARD:0005885 updated Tumefactive multiple sclerosis DOID:0060215 DOID -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym diffuse cerebral sclerosis of Schilder diffuse cerebral sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder DOID:0080122 Alpers-Huttenlocher syndrome GARD:0005885 updated diffuse cerebral sclerosis of Schilder DOID:0080122 DOID -MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym encephalitis periaxialis concentrica encephalitis periaxialis concentrica Encephalitis periaxialis concentrica DOID:10588 adrenoleukodystrophy GARD:0005885 updated encephalitis periaxialis concentrica DOID:10588 DOID MONDO:0016471 pachyonychia congenita oio:hasExactSynonym oio:hasNarrowSynonym pachyonychia congenita type 1 pachyonychia congenita type 1 Pachyonychia Congenita Type 1 DOID:0050449 pachyonychia congenita DOID:0050449 updated pachyonychia congenita type 1 DOID:0050449 DOID MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym oio:hasBroadSynonym DIL DOID:0040093 drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0040093 updated DIL DOID:0040093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0016535 hypohidrotic ectodermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CST syndrome DOID:0111664 ectodermal dysplasia 1 GARD:0000076 updated CST syndrome DOID:0111664 DOID MONDO:0016558 familial congenital mirror movements oio:hasExactSynonym oio:hasRelatedSynonym congenital mirror movement disorder DOID:0111153 congenital mirror movement disorder GARD:0012551, DOID:0111153 updated congenital mirror movement disorder DOID:0111153 DOID -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis aggressive systemic mastocytosis DOID:4798 aggressive systemic mastocytosis GARD:0008616 updated Aggressive systemic mastocytosis DOID:4798 DOID MONDO:0016595 inhalational anthrax oio:hasExactSynonym oio:hasRelatedSynonym inhalation anthrax DOID:0050160 inhalation anthrax DOID:0050160 updated inhalation anthrax DOID:0050160 DOID -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym intracranial meningioma DOID:0080842 intracranial meningioma DOID:3565 updated intracranial meningioma DOID:0080842 DOID -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym supratentorial meningioma DOID:0080843 supratentorial meningioma DOID:3565 updated supratentorial meningioma DOID:0080843 DOID MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm DOID:3565 meningioma DOID:3565 updated meningeal neoplasm DOID:3565 DOID MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningothelial cell tumor DOID:3565 meningioma DOID:3565 updated meningothelial cell tumor DOID:3565 DOID MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym primary meningeal tumor primary meningeal tumor primary Meningeal tumor DOID:3565 meningioma DOID:3565 updated primary meningeal tumor DOID:3565 DOID -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 DOID:0081045 frontonasal dysplasia 1 NCIT:C129028 updated frontonasal dysplasia 1 DOID:0081045 DOID -MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly DOID:0070297 primary microcephaly Orphanet:2512 updated true microcephaly DOID:0070297 DOID MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm DOID:3181 oligodendroglioma DOID:3181 updated oligodendroglial neoplasm DOID:3181 DOID MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor DOID:3181 oligodendroglioma DOID:3181, NCIT:C6960 updated oligodendroglial tumor DOID:3181 DOID MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO grade II Ependymal tumor DOID:4844 benign ependymoma DOID:4844, NCIT:C3017 updated WHO grade II ependymal tumor DOID:4844 DOID MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymal tumors DOID:5074 high grade ependymoma DOID:5074 updated ependymal tumors DOID:5074 DOID -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer DOID:3540 choroid plexus cancer NCIT:C4715 updated choroid plexus cancer DOID:3540 DOID MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym adult ganglioglioma DOID:5078 ganglioglioma DOID:5078 updated adult ganglioglioma DOID:5078 DOID MONDO:0016733 ganglioglioma oio:hasExactSynonym oio:hasNarrowSynonym childhood ganglioglioma DOID:5078 ganglioglioma DOID:5078 updated childhood ganglioglioma DOID:5078 DOID MONDO:0016955 partial duplication of the long arm of chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym partial trisomy distal 4q DOID:0111159 partial trisomy distal 4q DOID:0111159 updated partial trisomy distal 4q DOID:0111159 DOID -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis DOID:13139 crescentic glomerulonephritis Orphanet:280569 updated crescentic glomerulonephritis DOID:13139 DOID MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym oio:hasRelatedSynonym early-onset Parkinson's disease DOID:0060894 early-onset Parkinson's disease DOID:0060894 updated early-onset Parkinson's disease DOID:0060894 DOID MONDO:0017282 alveolar echinococcosis oio:hasRelatedSynonym oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection DOID:12148 alveolar echinococcosis Orphanet:284 updated Echinococcus multilocularis infection DOID:12148 DOID -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis DOID:1496 echinococcosis GARD:0000207 updated echinococcosis DOID:1496 DOID MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym fatal multiple mitochondrial dysfunction syndrome DOID:0070330 multiple mitochondrial dysfunctions syndrome GARD:0012632 updated fatal multiple mitochondrial dysfunction syndrome DOID:0070330 DOID MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type III DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 updated autosomal recessive cutis laxa type III DOID:0070143 DOID -MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer DOID:1785 pituitary cancer NCIT:C4536 updated pituitary gland cancer DOID:1785 DOID MONDO:0017675 punctate palmoplantar keratoderma oio:hasRelatedSynonym oio:hasExactSynonym punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma Orphanet:307967, DOID:0060361 updated punctate keratosis palmoplantaris DOID:0060361 DOID -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma DOID:2776 adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma updated adamantinoma DOID:2776 DOID MONDO:0017814 primary bone lymphoma oio:hasExactSynonym oio:hasRelatedSynonym bone lymphoma DOID:6759 bone lymphoma DOID:6759 updated bone lymphoma DOID:6759 DOID -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma DOID:3512 neurofibrosarcoma NCIT:C3798, Orphanet:3148 updated neurofibrosarcoma DOID:3512 DOID -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Erythroleukemia erythroleukemia DOID:0080916 erythroleukemia Orphanet:318 updated Erythroleukemia DOID:0080916 DOID MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency DOID:2211 factor XIII deficiency DOID:2211 updated factor XIII deficiency DOID:2211 DOID MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy D1 Trisomy DOID:11665 Patau syndrome NCIT:C36529, DOID:11665 updated D1 trisomy DOID:11665 DOID MONDO:0018068 trisomy 13 oio:hasRelatedSynonym oio:hasExactSynonym Patau's syndrome DOID:11665 Patau syndrome DOID:11665, ICD9CM:758.1 updated Patau's syndrome DOID:11665 DOID MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym oio:hasRelatedSynonym xanthinuria DOID:0060236 xanthinuria DOID:0060236 updated xanthinuria DOID:0060236 DOID -MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD updated ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018177 glioblastoma oio:hasExactSynonym oio:hasNarrowSynonym grade IV adult astrocytic tumor grade IV adult astrocytic tumor grade IV adult Astrocytic tumor DOID:3068 glioblastoma DOID:3068, NCIT:C9094 updated grade IV adult astrocytic tumor DOID:3068 DOID MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood DOID:0070324 updated EBV-positive T-cell lymphoproliferative disorder of childhood DOID:0070324 DOID MONDO:0018309 Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym macrocolon DOID:10487 Hirschsprung's disease DOID:10487 updated macrocolon DOID:10487 DOID MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym Langerhans-cell histiocytosis DOID:2571 Langerhans-cell histiocytosis DOID:2571 updated Langerhans-cell histiocytosis DOID:2571 DOID MONDO:0018352 squamous cell carcinoma of penis oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma DOID:5518, NCIT:C7729 updated squamous cell carcinoma of penis DOID:5518 DOID -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature teratoma DOID:5563 malignant teratoma ONCOTREE:OIMT updated immature teratoma DOID:5563 DOID MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis DOID:8125 osteochondrosis DOID:8125 updated osteochondritis DOID:8125 DOID MONDO:0018381 osteochondrosis oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis juvenilis DOID:8125 osteochondrosis DOID:8125 updated osteochondritis juvenilis DOID:8125 DOID MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH DOID:0060699 familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 updated FBH DOID:0060699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -30960,10 +30202,8 @@ MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym oio:has MONDO:0018492 hereditary clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hereditary conventional renal cell carcinoma DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 updated hereditary conventional renal cell carcinoma DOID:7192 DOID MONDO:0018513 squamous cell carcinoma of colon oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma NCIT:C5490, DOID:5519 updated squamous cell carcinoma of colon DOID:5519 DOID MONDO:0018515 squamous cell carcinoma of rectum oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma DOID:5528, NCIT:C5554 updated squamous cell carcinoma of the rectum DOID:5528 DOID -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma DOID:7234 mucinous cystadenocarcinoma of pancreas Orphanet:424053 updated pancreatic mucinous cystadenocarcinoma DOID:7234 DOID MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm DOID:7235 pancreatic mucinous cystadenoma DOID:7235 updated pancreatic mucinous cystic neoplasm DOID:7235 DOID MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma DOID:7735 pancreatic colloid cystadenoma NCIT:C5718 updated pancreatic colloid cystadenoma DOID:7735 DOID -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome DOID:0111510 Marshall syndrome NCIT:C116917 updated Marshall syndrome DOID:0111510 DOID MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis DOID:10588 adrenoleukodystrophy DOID:10588 updated diffuse sclerosis DOID:10588 DOID MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 hypogonadotropic hypogonadism DOID:0090070 updated congenital idiopathic hypogonadotropic hypogonadism DOID:0090070 DOID MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism DOID:0090070 hypogonadotropic hypogonadism MONDO:0004228 updated hypogonadotropism DOID:0090070 DOID @@ -30997,38 +30237,22 @@ MONDO:0018769 isosporiasis oio:hasExactSynonym oio:hasRelatedSynonym infection b MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy DOID:0050592 asphyxiating thoracic dystrophy DOID:0050592 updated asphyxiating thoracic dystrophy DOID:0050592 DOID MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 updated Charcot-Marie-Tooth disease dominant intermediate DOID:0050543 DOID MONDO:0018778 intermediate Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasNarrowSynonym Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 Charcot-Marie-Tooth disease intermediate type DOID:0050543 updated Charcot-Marie-Tooth disease recessive intermediate DOID:0050543 DOID -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia DOID:474 histiocytoid hemangioma GARD:0006835 updated angiolymphoid hyperplasia with eosinophilia DOID:474 DOID MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym oio:hasNarrowSynonym cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 congenital bile acid synthesis defect DOID:0050674 updated cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency DOID:0050674 DOID -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma DOID:3308 embryonal carcinoma ONCOTREE:BEC updated embryonal carcinoma DOID:3308 DOID MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasRelatedSynonym oio:hasExactSynonym embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma DOID:7232, NCIT:C7010 updated embryonal carcinoma of the central nervous system DOID:7232 DOID MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS DOID:0050629 Aicardi-Goutieres syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 updated AGS DOID:0050629 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym LFS1 DOID:0111503 Li-Fraumeni syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:151623 updated LFS1 DOID:0111503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasRelatedSynonym angiitis angiitis Angiitis DOID:865 vasculitis DOID:865 updated angiitis DOID:865 DOID -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma DOID:2634 cystadenoma NCIT:C2964 updated cystoma DOID:2634 DOID MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia DOID:1858 McCune Albright syndrome DOID:1858, OMIM:174800 updated polyostotic fibrous dysplasia DOID:1858 DOID MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasBroadSynonym mucolipidosis III DOID:0080071 mucolipidosis III alpha/beta DOID:0080071 updated mucolipidosis III DOID:0080071 DOID MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis III ALPHA/BETA mucolipidosis III ALPHA/BETA mucolipidosis III alpha/beta DOID:0080071 mucolipidosis III alpha/beta OMIM:252600 updated mucolipidosis III ALPHA/BETA DOID:0080071 DOID -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym NAGLU deficiency DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 updated NAGLU deficiency DOID:0111394 DOID -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB mucopolysaccharidosis type iiib DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 updated mucopolysaccharidosis type IIIB DOID:0111394 DOID -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB DOID:0111394 mucopolysaccharidosis type IIIB DOID:12801 updated mucopolysaccharidosis type IIIB DOID:0111394 DOID -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 updated mucopolysaccharidosis type IIIA DOID:0111395 DOID -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA DOID:12801 updated mucopolysaccharidosis type IIIA DOID:0111395 DOID MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis III DOID:12801 mucopolysaccharidosis III DOID:12801 updated mucopolysaccharidosis III DOID:12801 DOID -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio A disease DOID:0111391 mucopolysaccharidosis IVA DOID:12804 updated Morquio A disease DOID:0111391 DOID -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym Morquio syndrome A DOID:0111391 mucopolysaccharidosis IVA DOID:12804 updated Morquio syndrome A DOID:0111391 DOID -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 updated mucopolysaccharidosis type IVB DOID:0111392 DOID -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB mucopolysaccharidosis type ivb DOID:0111392 mucopolysaccharidosis type IVB DOID:12804 updated mucopolysaccharidosis type IVB DOID:0111392 DOID MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 mucopolysaccharidosis IV DOID:12804 updated deficiency of N-acetylgalactosamine-6-sulphatase DOID:12804 DOID MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency DOID:12804 mucopolysaccharidosis IV DOID:12804 updated galactosamine-6-sulfatase deficiency DOID:12804 DOID -MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial limb-girdle myasthenia DOID:0110668 congenital myasthenic syndrome 10 DOID:3635 updated familial limb-girdle myasthenia DOID:0110668 DOID MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole DOID:3590 gestational trophoblastic neoplasm DOID:3590 updated hydatidiform mole DOID:3590 DOID MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy DOID:3590 gestational trophoblastic neoplasm NCIT:C3110, DOID:3590 updated molar pregnancy DOID:3590 DOID -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy DOID:0070198 Miyoshi muscular dystrophy DOID:11720 updated Miyoshi muscular dystrophy DOID:0070198 DOID MONDO:0018958 nemaline myopathy oio:hasExactSynonym oio:hasRelatedSynonym Rod body disease Rod body disease rod body disease DOID:3191 nemaline myopathy GARD:0012033 updated Rod body disease DOID:3191 DOID MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis DOID:10983 Alport syndrome NCIT:C34842, DOID:10983 updated hereditary nephritis DOID:10983 DOID -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome DOID:0060403 chromosome 17q11.2 deletion syndrome NCIT:C3273 updated neurofibromatosis type 1 microdeletion syndrome DOID:0060403 DOID MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen Disease DOID:0111253 neurofibromatosis 1 Orphanet:636, NCIT:C3273, OMIM:162200 updated Von Recklinghausen disease DOID:0111253 DOID -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis DOID:8712 neurofibromatosis NCIT:C3273 updated neurofibromatosis DOID:8712 DOID MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical updated SCAR1 DOID:0050755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym adult nephroblastoma DOID:2154 nephroblastoma DOID:2154 updated adult nephroblastoma DOID:2154 DOID MONDO:0019004 kidney Wilms tumor oio:hasRelatedSynonym oio:hasExactSynonym Wilms' Tumor Wilms' Tumor Wilms' tumor DOID:2154 nephroblastoma NORD:1855 updated Wilms' Tumor DOID:2154 DOID @@ -31042,23 +30266,18 @@ MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio: MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 updated HLTRS DOID:0111360 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus DOID:1107 esophageal carcinoma NCIT:C3513, DOID:1107 updated cancer of esophagus DOID:1107 DOID MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of oesophagus DOID:1107 esophageal carcinoma http://purl.obolibrary.org/obo/OMO_0003005 updated cancer of oesophagus DOID:1107 DOID -MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer DOID:5041 esophageal cancer NCIT:C3513 updated esophageal cancer DOID:5041 DOID -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer DOID:4606 bile duct cancer Orphanet:70567 updated bile duct cancer DOID:4606 DOID -MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym black death DOID:10773 bubonic plague updated black death DOID:10773 DOID MONDO:0019118 inherited retinal dystrophy oio:hasExactSynonym oio:hasBroadSynonym fundus dystrophy DOID:8501 fundus dystrophy MONDO:0004590 updated fundus dystrophy DOID:8501 DOID MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Hematoporphyria DOID:13268 porphyria DOID:13268 updated Hematoporphyria DOID:13268 DOID MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasRelatedSynonym Porphyrinopathy DOID:13268 porphyria DOID:13268 updated Porphyrinopathy DOID:13268 DOID MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin metabolism DOID:13268 porphyria ICD9CM:277.1, DOID:13268 updated disorder of porphyrin metabolism DOID:13268 DOID MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria DOID:13268 porphyria DOID:13268 updated porphyria DOID:13268 DOID MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency Orphanet:743 updated severe hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 DOID -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency DOID:0080217 lysosomal acid lipase deficiency NCIT:C61271 updated lysosomal acid lipase deficiency DOID:0080217 DOID MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD DOID:14502 cholesterol ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 updated CESD DOID:14502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Feminisation - testicular DOID:4674 androgen insensitivity syndrome DOID:4674 updated Feminisation - testicular DOID:4674 DOID MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym oio:hasNarrowSynonym pericentral pigmentary retinopathy DOID:10584 retinitis pigmentosa DOID:10584 updated pericentral pigmentary retinopathy DOID:10584 DOID MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate metabolic disorder DOID:2978 carbohydrate metabolic disorder DOID:2978 updated carbohydrate metabolic disorder DOID:2978 DOID MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency DOID:0050731 vitamin B12 deficiency DOID:0050731 updated cobalamin deficiency DOID:0050731 DOID MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym hypocobalaminemia DOID:0050731 vitamin B12 deficiency DOID:0050731 updated hypocobalaminemia DOID:0050731 DOID -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome DOID:905 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 updated cerebrohepatorenal syndrome DOID:905 DOID MONDO:0019245 lysosomal lipid storage disorder oio:hasExactSynonym oio:hasRelatedSynonym lipoidosis DOID:9455 lipid storage disease DOID:9455 updated lipoidosis DOID:9455 DOID MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym purine-pyrimidine metabolic disorder DOID:653 purine-pyrimidine metabolic disorder DOID:653 updated purine-pyrimidine metabolic disorder DOID:653 DOID MONDO:0019269 ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym non-syndromic ichthyosis DOID:1697 ichthyosis DOID:1697 updated non-syndromic ichthyosis DOID:1697 DOID @@ -31071,9 +30290,7 @@ MONDO:0019345 shigellosis oio:hasExactSynonym oio:hasNarrowSynonym Shigella sonn MONDO:0019349 Sotos syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOTOS1 DOID:0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:117550, MONDO:Lexical updated SOTOS1 DOID:0112103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019353 Stargardt disease oio:hasExactSynonym oio:hasNarrowSynonym Stargardt disease 1 Stargardt disease 1 STARGARDT DISEASE 1 DOID:0050817 Stargardt disease DOID:0050817 updated Stargardt disease 1 DOID:0050817 DOID MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym Tick typhus DOID:0050052 Rocky Mountain spotted fever DOID:0050052 updated Tick typhus DOID:0050052 DOID -MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym oio:hasBroadSynonym typhus DOID:11256 typhus Wikipedia:Typhus updated typhus DOID:11256 DOID MONDO:0019365 scrub typhus oio:hasRelatedSynonym oio:hasExactSynonym tsutsugamushi fever tsutsugamushi fever Tsutsugamushi fever DOID:13371 scrub typhus DOID:13371, Orphanet:83317 updated tsutsugamushi fever DOID:13371 DOID -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy DOID:1811 reflex sympathetic dystrophy GARD:0004647 updated reflex sympathetic dystrophy DOID:1811 DOID MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma soft tissue Perineurioma DOID:4697 perineurioma NCIT:C6912, DOID:4697 updated soft tissue perineurioma DOID:4697 DOID MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Light chain amyloidosis DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 updated Light chain amyloidosis DOID:0080933 DOID MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis primary systemic amyloidosis primary systemic Amyloidosis primary systemic DOID:0080933 immunoglobulin light chain amyloidosis GARD:0005797 updated amyloidosis primary systemic DOID:0080933 DOID @@ -31086,10 +30303,8 @@ MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedS MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect DOID:0111073 progressive familial heart block Orphanet:871, DOID:0111073 updated hereditary bundle branch defect DOID:0111073 DOID MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic deafness DOID:0050563 nonsyndromic deafness DOID:0050563 updated nonsyndromic deafness DOID:0050563 DOID MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasBroadSynonym nonsyndromic hearing loss DOID:0050563 nonsyndromic deafness MONDO:patterns/isolated, DOID:0050563 updated nonsyndromic hearing loss DOID:0050563 DOID -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis DOID:14447 gonadal dysgenesis NCIT:C26900 updated gonadal dysgenesis DOID:14447 DOID MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome DOID:3491 Turner syndrome DOID:3491 updated Bonnevie-Ullrich syndrome DOID:3491 DOID MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X DOID:3491 Turner syndrome DOID:3491, NCIT:C36630 updated monosomy X DOID:3491 DOID -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome DOID:0110829 retinitis pigmentosa-deafness syndrome Orphanet:886 updated retinitis pigmentosa-deafness syndrome DOID:0110829 DOID MONDO:0019508 van der Woude syndrome oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome DOID:0060239 Van der Woude syndrome DOID:0060239, Orphanet:888 updated lip-pit syndrome DOID:0060239 DOID MONDO:0019514 hepatic veno-occlusive disease oio:hasExactSynonym oio:hasRelatedSynonym veno-occlusive disease DOID:0080177 hepatic veno-occlusive disease DOID:0080177 updated veno-occlusive disease DOID:0080177 DOID MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular hemophilia DOID:12531 von Willebrand's disease DOID:12531 updated vascular hemophilia DOID:12531 DOID @@ -31103,15 +30318,8 @@ MONDO:0019586 X-linked nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarr MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasBroadSynonym autosomal dominant deafness DOID:0050564 autosomal dominant nonsyndromic deafness DOID:0050564 updated autosomal dominant deafness DOID:0050564 DOID MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym autosomal dominant nonsyndromic deafness DOID:0050564 autosomal dominant nonsyndromic deafness https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900 updated autosomal dominant nonsyndromic deafness DOID:0050564 DOID MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive nonsyndromic deafness DOID:0050565 autosomal recessive nonsyndromic deafness OMIM:607197 updated autosomal recessive nonsyndromic deafness DOID:0050565 DOID -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma DOID:5577 gastrinoma Orphanet:913 updated gastrinoma DOID:5577 DOID -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 Orphanet:93359 updated spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 DOID -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 updated SEMDJL1 DOID:0112198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 updated acromesomelic dwarfism DOID:0080051 DOID MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome Mulchandani-Bhoj-Conlin syndrome DOID:0111714 Mulchandani-Bhoj-Conlin syndrome OMIM:617352 updated MULCHANDANI-BHOJ-CONLIN syndrome DOID:0111714 DOID MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS DOID:0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 updated MBCS DOID:0111714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0019933 acromegaly oio:hasExactSynonym oio:hasRelatedSynonym somatotroph adenoma somatotroph adenoma Somatotroph adenoma DOID:6255 growth hormone secreting pituitary adenoma GARD:0005725 updated somatotroph adenoma DOID:6255 DOID -MONDO:0019952 congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym Batten Turner congenital myopathy DOID:2106 myotonia congenita GARD:0005898 updated Batten Turner congenital myopathy DOID:2106 DOID -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera DOID:6977 pancreatic cholera GARD:0003787, Orphanet:97282 updated pancreatic cholera DOID:6977 DOID MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U DOID:2226 myeloproliferative neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27350, DOID:2226 updated CMPD, U DOID:2226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020213 stromal corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym stromal dystrophy DOID:0060442 stromal dystrophy DOID:0060442 updated stromal dystrophy DOID:0060442 DOID MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect DOID:0050651 atrioventricular septal defect DOID:0050651 updated atrioventricular canal defect DOID:0050651 DOID @@ -31121,47 +30329,28 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 updated AVSD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD DOID:0050651 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 updated ECD DOID:0050651 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal B-cell lymphoma DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 updated primary mediastinal B-cell lymphoma DOID:0080210 DOID -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma DOID:0050593 primary congenital glaucoma Orphanet:98976 updated primary congenital glaucoma DOID:0050593 DOID MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia DOID:1441 autosomal dominant cerebellar ataxia DOID:1441 updated spinocerebellar ataxia DOID:1441 DOID MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency DOID:0111165 molybdenum cofactor deficiency OMIMPS:252150 updated molybdenum cofactor deficiency DOID:0111165 DOID -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 updated Cree leukoencephalopathy DOID:0070367 DOID -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL DOID:0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 updated B-ALL DOID:0080630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 updated B acute lymphoblastic leukemia DOID:0080638 DOID MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphoblastic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 updated B-cell acute lymphoblastic leukemia DOID:0080638 DOID MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-cell acute lymphocytic leukemia DOID:0080638 B-cell acute lymphoblastic leukemia NCIT:C8644 updated B-cell acute lymphocytic leukemia DOID:0080638 DOID MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym oio:hasRelatedSynonym spermatocytoma DOID:5834 spermatocytoma DOID:5834 updated spermatocytoma DOID:5834 DOID MONDO:0020533 streptobacillary rat-bite fever oio:hasRelatedSynonym oio:hasExactSynonym streptobacillary rat-bite fever streptobacillary rat-bite fever Streptobacillary rat-bite fever DOID:13238 Haverhill fever DOID:13238 updated streptobacillary rat-bite fever DOID:13238 DOID MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 OMIM:312870 updated Golabi-Rosen syndrome DOID:0060248 DOID -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis OMIM:207410 updated trapezoidocephaly-synostosis Syndrome DOID:0050462 DOID -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym XGPT deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 updated XGPT deficiency DOID:0050802 DOID -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 oio:hasRelatedSynonym oio:hasExactSynonym xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-Beta-galactosyltransferase deficiency xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 OMIM:130070 updated xylosylprotein 4-Beta-galactosyltransferase deficiency DOID:0050802 DOID -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 updated spondylothoracic dysostosis DOID:0050568 DOID -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia DOID:0050568 spondylocostal dysostosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 updated spondylothoracic dysplasia DOID:0050568 DOID MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym SCDO1 DOID:0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277300 updated SCDO1 DOID:0112365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020717 autosomal dominant wooly hair oio:hasExactSynonym oio:hasRelatedSynonym ADWH DOID:0111573 autosomal dominant woolly hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:194300 updated ADWH DOID:0111573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 updated cavernous angiomatous malformations DOID:0060669 DOID -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations DOID:0060669 cerebral cavernous malformation OMIM:116860 updated cerebral capillary malformations DOID:0060669 DOID MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 DOID:0111498 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 updated COXPD22 DOID:0111498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome DOID:12169 carpal tunnel syndrome OMIM:115430 updated carpal tunnel syndrome DOID:12169 DOID -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, MONDO:Lexical updated ACTH-independent macronodular adrenal hyperplasia DOID:0111622 DOID -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662, Orphanet:189427 updated ACTH-independent macronodular adrenocortical hyperplasia DOID:0111622 DOID -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia GARD:0010824, OMIM:219080, MESH:C565662 updated adrenocorticotropic hormone-independent macronodular adrenal hyperplasia DOID:0111622 DOID -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 ACTH-independent macronodular adrenal hyperplasia OMIM:219080, GARD:0010824, MESH:C565662 updated corticotropin-independent macronodular adrenal hyperplasia DOID:0111622 DOID MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH1 DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:219080, MESH:C565662 updated AIMAH1 DOID:0111623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 updated optic atrophy 10 with or without ataxia, mental retardation, and seizures DOID:0111434 DOID MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures oio:hasExactSynonym oio:hasRelatedSynonym OPA10 DOID:0111434 optic atrophy 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616732 updated OPA10 DOID:0111434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020738 multiple benign circumferential skin creases on limbs 1 oio:hasExactSynonym oio:hasRelatedSynonym CSCSC1 DOID:0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156610 updated CSCSC1 DOID:0112242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym AASA dehydrogenase deficiency DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 OMIM:266100 updated AASA dehydrogenase deficiency DOID:0070519 DOID -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine-dependent epilepsy DOID:0080768 pyridoxine-dependent epilepsy OMIM:266100 updated pyridoxine-dependent epilepsy DOID:0080768 DOID MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAN3 DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618387 updated SCAN3 DOID:0070465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy Meesmann corneal dystrophy DOID:0060451 Meesmann corneal dystrophy OMIM:122100 updated Meesmann Corneal Dystrophy DOID:0060451 DOID -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy DOID:0081296 oculopharyngodistal myopathy OMIM:164310 updated oculopharyngodistal myopathy DOID:0081296 DOID MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 updated symptomatic form of HFE-related hereditary hemochromatosis DOID:0111029 DOID MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym symptomatic form of classic hemochromatosis DOID:0111029 hemochromatosis type 1 Orphanet:465508, DOID:0111029 updated symptomatic form of classic hemochromatosis DOID:0111029 DOID MONDO:0021003 polydactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly DOID:1148 polydactyly DOID:1148 updated postaxial polydactyly DOID:1148 DOID MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome DOID:0111824 Aarskog syndrome updated Aarskog syndrome DOID:0111824 DOID MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia DOID:0111824 Aarskog syndrome updated faciogenital dysplasia DOID:0111824 DOID -MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome DOID:6683 X-linked Aarskog syndrome updated Aarskog-Scott syndrome DOID:6683 DOID MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome AMISH BRITTLE HAIR BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 updated Amish brittle hair brain syndrome DOID:0050528 DOID MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 updated BIDS syndrome DOID:0050528 DOID MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym hair-brain syndrome hair-brain syndrome HAIR-BRAIN SYNDROME DOID:0050528 nonphotosensitive trichothiodystrophy 4 OMIM:234050 updated hair-brain syndrome DOID:0050528 DOID @@ -31171,9 +30360,7 @@ MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia DOID:0060695 hyperekplexia Orphanet:3197 updated hyperekplexia DOID:0060695 DOID MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985, NCIT:C7135 updated extraosseous Ewing's tumor DOID:4985 DOID MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumour DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor http://purl.obolibrary.org/obo/OMO_0003005 updated extraosseous Ewing's tumour DOID:4985 DOID -MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon DOID:0050424 familial adenomatous polyposis OMIM:175100 updated adenomatous polyposis of the colon DOID:0050424 DOID MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm DOID:170 endocrine gland cancer DOID:170 updated endocrine neoplasm DOID:170 DOID -MONDO:0021093 cranioectodermal dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Sensenbrenner syndrome DOID:0050577 cranioectodermal dysplasia OMIM:218330 updated Sensenbrenner syndrome DOID:0050577 DOID MONDO:0021097 intraductal breast papilloma oio:hasExactSynonym oio:hasRelatedSynonym breast duct papilloma DOID:1626 breast duct papilloma DOID:1626 updated breast duct papilloma DOID:1626 DOID MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 updated appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 DOID MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor http://purl.obolibrary.org/obo/OMO_0003005 updated appendiceal L-cell glucagon-like peptide producing tumour DOID:8151 DOID @@ -31183,7 +30370,6 @@ MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasRelatedSynonym acute-on-chronic respiratory failure DOID:11162 respiratory failure DOID:11162 updated acute-on-chronic respiratory failure DOID:11162 DOID MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym chronic respiratory failure DOID:11162 respiratory failure DOID:11162 updated chronic respiratory failure DOID:11162 DOID MONDO:0021118 intestinal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym intestinal benign neoplasm DOID:4610 intestinal benign neoplasm DOID:4610 updated intestinal benign neoplasm DOID:4610 DOID -MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym nanophthalmos DOID:0080634 nanophthalmos DOID:10629 updated nanophthalmos DOID:0080634 DOID MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos DOID:10629 microphthalmia DOID:10629 updated microphthalmos DOID:10629 DOID MONDO:0021259 prostate neoplasm oio:hasExactSynonym oio:hasRelatedSynonym nodular prostate DOID:13206 nodular prostate updated nodular prostate DOID:13206 DOID MONDO:0021553 transverse myelitis oio:hasExactSynonym oio:hasRelatedSynonym Transverse Myelitis Transverse Myelitis transverse myelitis DOID:0080743 transverse myelitis MESH:D009188 updated Transverse Myelitis DOID:0080743 DOID @@ -31193,12 +30379,10 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym scapuloilioperoneal atrophy with cardiopathy DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 OMIM:181350 updated scapuloilioperoneal atrophy with cardiopathy DOID:0070247 DOID MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMD2 DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181350 updated EMD2 DOID:0070247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum astrocytoma of Cerebrum DOID:3069 malignant astrocytoma DOID:3069 updated astrocytoma of cerebrum DOID:3069 DOID -MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym oio:hasRelatedSynonym sex cord stromal tumour sex cord stromal tumour Sex cord stromal tumour DOID:192 sex cord-gonadal stromal tumor http://purl.obolibrary.org/obo/OMO_0003005 updated sex cord stromal tumour DOID:192 DOID MONDO:0022687 cerebellar degeneration oio:hasExactSynonym oio:hasRelatedSynonym cerebral degeneration DOID:1443 cerebral degeneration DOID:1443 updated cerebral degeneration DOID:1443 DOID MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational Asthma Occupational Asthma occupational asthma DOID:0080820 occupational asthma MESH:D059366 updated Occupational Asthma DOID:0080820 DOID MONDO:0022742 occupational asthma oio:hasExactSynonym oio:hasRelatedSynonym Occupational asthma Occupational asthma occupational asthma DOID:0080820 occupational asthma UMLS:C0264423 updated Occupational asthma DOID:0080820 DOID MONDO:0023069 enlarged vestibular aqueduct syndrome oio:hasExactSynonym oio:hasRelatedSynonym enlarged vestibular aqueduct DOID:0050332 enlarged vestibular aqueduct DOID:0050332 updated enlarged vestibular aqueduct DOID:0050332 DOID -MONDO:0023419 hyperprolinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolinemia type 1 DOID:0080542 hyperprolinemia type 1 GARD:0002847 updated hyperprolinemia type 1 DOID:0080542 DOID MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine ductal carcinoma of skin eccrine ductal carcinoma of skin Eccrine ductal carcinoma of skin DOID:5570 malignant acrospiroma DOID:5570 updated eccrine ductal carcinoma of skin DOID:5570 DOID MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym congenital nongoitrous hypothyroidism 2 DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 updated congenital nongoitrous hypothyroidism 2 DOID:0070124 DOID MONDO:0024268 superficial mycosis oio:hasExactSynonym oio:hasNarrowSynonym piedra DOID:0050133 superficial mycosis DOID:0050133 updated piedra DOID:0050133 DOID @@ -31207,12 +30391,7 @@ MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0024305 acquired hyperprolactinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperprolactinemia DOID:12700 hyperprolactinemia DOID:12700 updated hyperprolactinemia DOID:12700 DOID MONDO:0024306 acquired lactic acidosis oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis DOID:3650 lactic acidosis DOID:3650 updated lactic acidosis DOID:3650 DOID MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExactSynonym oio:hasRelatedSynonym hereditary sensory and autonomic neuropathy type 2A DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 updated hereditary sensory and autonomic neuropathy type 2A DOID:0070155 DOID -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large intestine cancer DOID:5672 large intestine cancer NCIT:C2955 updated large intestine cancer DOID:5672 DOID -MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym colorectal cancer DOID:9256 colorectal cancer NCIT:C2955 updated colorectal cancer DOID:9256 DOID MONDO:0024336 vulvar adenocarcinoma oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma DOID:2098, NCIT:C6380 updated adenocarcinoma of the vulva DOID:2098 DOID -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism DOID:0060254 Robinow syndrome OMIM:180700 updated Robinow dwarfism DOID:0060254 DOID -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities DOID:0060254 Robinow syndrome OMIM:180700 updated acral dysostosis with Facial and genital abnormalities DOID:0060254 DOID -MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome DOID:0060254 Robinow syndrome OMIM:180700 updated fetal face syndrome DOID:0060254 DOID MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasBroadSynonym Seitelberger disease Seitelberger disease Seitelberger Disease DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#DEPRECATED Orphanet:35069, OMIM:256600, DOID:0110735 updated Seitelberger disease DOID:0110735 DOID MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym INAD1 DOID:0110735 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256600, Orphanet:35069 updated INAD1 DOID:0110735 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024472 boutonneuse fever oio:hasExactSynonym oio:hasBroadSynonym Rickettsia conorii spotted fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 updated Rickettsia conorii spotted fever DOID:14095 DOID @@ -31222,39 +30401,24 @@ MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Kenyan MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean spotted fever DOID:14095 boutonneuse fever DOID:14095, PMID:18760001, Orphanet:83313 updated Mediterranean spotted fever DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym Mediterranean tick fever DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 updated Mediterranean tick fever DOID:14095 DOID MONDO:0024472 boutonneuse fever oio:hasRelatedSynonym oio:hasExactSynonym boutonneuse disease boutonneuse disease Boutonneuse disease DOID:14095 boutonneuse fever PMID:18760001, DOID:14095 updated boutonneuse disease DOID:14095 DOID -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia DOID:12271 aniridia OMIM:106210, OMIM:genemap2 updated aniridia DOID:12271 DOID -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym bathing epilepsy DOID:0081104 hot water epilepsy OMIM:613339 updated bathing epilepsy DOID:0081104 DOID -MONDO:0024508 epilepsy, hot water, 1 oio:hasExactSynonym oio:hasRelatedSynonym water immersion epilepsy DOID:0081104 hot water epilepsy OMIM:613339 updated water immersion epilepsy DOID:0081104 DOID -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA DOID:0050639 primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 updated PCA DOID:0050639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease DOID:62 aortic valve disease OMIM:109730 updated aortic valve disease DOID:62 DOID -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome DOID:1062 Fanconi syndrome OMIM:134600 updated adult Fanconi syndrome DOID:1062 DOID MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym THES1 DOID:0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222470 updated THES1 DOID:0111415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar hypoplasia, VLDLR-associated DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 OMIM:224050 updated cerebellar hypoplasia, VLDLR-associated DOID:0070556 DOID MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 updated cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 DOID:0070556 DOID MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:224050 updated cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 DOID:0070556 DOID MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CAMRQ1 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:224050 updated CAMRQ1 DOID:0070556 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy DOID:0070198 Miyoshi muscular dystrophy OMIM:254130 updated Miyoshi myopathy DOID:0070198 DOID MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 Miyoshi muscular dystrophy 1 DOID:0070199 Miyoshi muscular dystrophy 1 OMIM:254130 updated MIYOSHI muscular dystrophy 1 DOID:0070199 DOID MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MMD1 DOID:0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254130 updated MMD1 DOID:0070199 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin DOID:0060283 peeling skin syndrome OMIM:270300 updated deciduous skin DOID:0060283 DOID MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 DOID:0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS1 DOID:0070520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS DOID:0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS DOID:0111687 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD Fmd FMD DOID:0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 updated FMD DOID:0111785 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 DOID:0111786 frontometaphyseal dysplasia 1 OMIM:305620 updated FRONTOMETAPHYSEAL dysplasia 1 DOID:0111786 DOID MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 DOID:0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 updated FMD1 DOID:0111786 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym Midas syndrome Midas syndrome MIDAS syndrome DOID:0111808 linear skin defects with multiple congenital anomalies 1 OMIM:309801 updated Midas syndrome DOID:0111808 DOID MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 updated MLASA1 DOID:0111185 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 updated D-2-hydroxyglutaric aciduria DOID:0050575 DOID MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 DOID:0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 updated D2HGA1 DOID:0111351 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 updated Vacuolating megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 DOID -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasBroadSynonym megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts OMIM:genemap2, OMIM:604004 updated megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 DOID MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 updated Van Der Knaap disease DOID:0080316 DOID MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with swelling and cysts DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 updated leukoencephalopathy with swelling and cysts DOID:0080316 DOID MONDO:0024566 febrile seizures, familial, 11 oio:hasExactSynonym oio:hasRelatedSynonym FEB11 DOID:0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614418 updated FEB11 DOID:0111308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0024609 vulvar squamous cell carcinoma oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma of vulva DOID:2101 vulva squamous cell carcinoma DOID:2101, NCIT:C4052 updated squamous cell carcinoma of vulva DOID:2101 DOID MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym islet cell adenoma islet cell adenoma Islet cell adenoma DOID:3892 insulinoma DOID:3892 updated islet cell adenoma DOID:3892 DOID -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor DOID:314 tenosynovial giant cell tumor Orphanet:66627 updated tenosynovial giant cell tumor DOID:314 DOID -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumour DOID:314 tenosynovial giant cell tumor http://purl.obolibrary.org/obo/OMO_0003005 updated tenosynovial giant cell tumour DOID:314 DOID MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym villonodular synovitis DOID:9898 villonodular synovitis DOID:9898 updated villonodular synovitis DOID:9898 DOID MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor DOID:6755 amyloid tumor DOID:6755 updated amyloid tumor DOID:6755 DOID MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumour DOID:6755 amyloid tumor http://purl.obolibrary.org/obo/OMO_0003005 updated amyloid tumour DOID:6755 DOID @@ -31275,7 +30439,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 X-Linked immunodeficiency 74 OMIM:301051 updated respiratory insufficiency due to SARS-CoV-2 viral infection DOID:0112063 DOID MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 DOID:0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 updated IMD74 DOID:0112063 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym 9q-syndrome DOID:0060352 Kleefstra syndrome 1 DOID:0070075 updated 9q-syndrome DOID:0060352 DOID -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome DOID:0080597 Kleefstra syndrome DOID:0070075 updated Kleefstra syndrome DOID:0080597 DOID MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IID DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 updated autosomal recessive cutis laxa type IID DOID:0070129 DOID MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cutis laxa type IIC DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 updated autosomal recessive cutis laxa type IIC DOID:0070140 DOID MONDO:0027676 congenital anomalies of kidney and urinary tract 2 oio:hasExactSynonym oio:hasRelatedSynonym CAKUT2 DOID:0080207 CAKUT2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:143400, DOID:0080207 updated CAKUT2 DOID:0080207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -31290,7 +30453,6 @@ MONDO:0029147 spermatogenic failure 33 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPERMATOGENIC FAILURE 34 SPERMATOGENIC FAILURE 34 spermatogenic failure 34 DOID:0111911 spermatogenic failure 34 OMIM:618153 updated SPERMATOGENIC FAILURE 34 DOID:0111911 DOID MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym SPGF34 DOID:0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618153 updated SPGF34 DOID:0111911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 DOID:0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 updated DFNA77 DOID:0112168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure DOID:0111910 spermatogenic failure OMIM:619145, OMIM:genemap2 updated spermatogenic failure DOID:0111910 DOID MONDO:0030906 Trichomonas tenax infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Trichomonas tenax trichomoniasis DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 updated Trichomonas tenax trichomoniasis DOID:0050270 DOID MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation 106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED DOID:0080240 updated X-linked mental retardation 106 DOID:0080240 DOID MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym MRX106 DOID:0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 updated MRX106 DOID:0080240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -31494,14 +30656,10 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 4 with or without hepatic disease DOID:0080212 polycystic kidney disease 4 OMIM:263200 updated polycystic kidney disease 4 with or without hepatic disease DOID:0080212 DOID MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive DOID:0080212 polycystic kidney disease 4 OMIM:263200 updated polycystic kidney disease, autosomal recessive DOID:0080212 DOID MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 PKD3 pkd3 DOID:0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 updated PKD3 DOID:0080212 DOID -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 DOID:0110860 polycystic kidney disease 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 updated PKD3 DOID:0110860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney and hepatic disease 1 polycystic kidney and hepatic disease 1 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 DOID:898 autosomal dominant polycystic kidney disease OMIM:263200 updated polycystic kidney and hepatic disease 1 DOID:898 DOID MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 updated Galloway syndrome DOID:0060364 DOID MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 updated nephrosis-microcephaly syndrome DOID:0060364 DOID MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-neuronal dysmigration syndrome DOID:0060364 Galloway-Mowat syndrome 1 OMIM:251300 updated nephrosis-neuronal dysmigration syndrome DOID:0060364 DOID MONDO:0033006 Galloway-Mowat syndrome 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Galloway-Mowat syndrome 2 DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 updated Galloway-Mowat syndrome 2 DOID:0080244 DOID -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym Greither disease Greither disease Greither Disease DOID:0050467 erythrokeratodermia variabilis OMIM:133200 updated Greither disease DOID:0050467 DOID -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis DOID:0050467 erythrokeratodermia variabilis OMIM:133200 updated erythrokeratodermia variabilis DOID:0050467 DOID MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis et progressiva 1 DOID:0111195 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 updated erythrokeratodermia variabilis ET progressiva 1 DOID:0111195 DOID MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 DOID:0080248 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 updated erythrokeratodermia variabilis ET progressiva 2 DOID:0080248 DOID MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 updated erythrokeratodermia variabilis ET progressiva 3 DOID:0080249 DOID @@ -31592,7 +30750,6 @@ MONDO:0049223 osteogenesis imperfecta, type 19 oio:hasExactSynonym oio:hasRelate MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG IIq CDG Iiq CDG IIq DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 updated CDG IIq DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054559 congenital disorder of glycosylation, type IIq oio:hasExactSynonym oio:hasRelatedSynonym CDG2Q DOID:0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617395 updated CDG2Q DOID:0070269 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type DOID:0050640 anauxetic dysplasia 1 OMIM:607095 updated spondylometaepiphyseal dysplasia, Menger type DOID:0050640 DOID -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia DOID:0080942 anauxetic dysplasia OMIM:607095 updated anauxetic dysplasia DOID:0080942 DOID MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym primary autosomal dominant microcephaly 18 DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 updated primary autosomal dominant microcephaly 18 DOID:0070295 DOID MONDO:0054593 microcephaly 18, primary, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym MCPH18 DOID:0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617520 updated MCPH18 DOID:0070295 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054601 pituitary adenoma 5, multiple types oio:hasExactSynonym oio:hasRelatedSynonym PITA5 DOID:0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617540 updated PITA5 DOID:0112008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -31624,12 +30781,9 @@ MONDO:0054731 spermatogenic failure 27 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054732 spermatogenic failure 28 oio:hasExactSynonym oio:hasRelatedSynonym SPGF28 DOID:0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618086 updated SPGF28 DOID:0111916 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054733 spermatogenic failure 29 oio:hasExactSynonym oio:hasRelatedSynonym SPGF29 DOID:0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618091 updated SPGF29 DOID:0111930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054736 mosaic variegated aneuploidy syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 3 MOSAIC variegated aneuploidy syndrome 3 mosaic variegated aneuploidy syndrome 3 DOID:0080689 mosaic variegated aneuploidy syndrome 3 OMIM:617598 updated MOSAIC variegated aneuploidy syndrome 3 DOID:0080689 DOID -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome DOID:0090001 Fraser syndrome OMIM:219000 updated Fraser syndrome DOID:0090001 DOID -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations DOID:0090001 Fraser syndrome OMIM:219000 updated cryptophthalmos with Other malformations DOID:0090001 DOID MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 DOID:0111405 Fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 updated FRASRS1 DOID:0111405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 DOID:0111407 Fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 updated FRASRS2 DOID:0111407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 DOID:0111406 Fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 updated FRASRS3 DOID:0111406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome DOID:0080344 blepharocheilodontic syndrome OMIM:119580 updated blepharocheilodontic syndrome DOID:0080344 DOID MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 DOID:0111497 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 updated COXPD34 DOID:0111497 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 DOID:0111464 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 updated COXPD35 DOID:0111464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054781 combined oxidative phosphorylation deficiency 36 oio:hasExactSynonym oio:hasRelatedSynonym COXPD36 DOID:0111482 combined oxidative phosphorylation deficiency 36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617950 updated COXPD36 DOID:0111482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -31643,7 +30797,6 @@ MONDO:0054831 Coffin-Siris syndrome 7 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-Tooth neuropathy, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 updated Charcot-Marie-Tooth neuropathy, type 2Dd DOID:0111558 DOID MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-tooth disease, axonal, type 2DD Charcot-Marie-Tooth disease, axonal, type 2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD OMIM:618036 updated Charcot-Marie-tooth disease, axonal, type 2DD DOID:0111558 DOID MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD DOID:0111558 Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 updated CMT2DD DOID:0111558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome DOID:0070487 dopamine transporter deficiency syndrome OMIM:613135 updated dopamine transporter deficiency syndrome DOID:0070487 DOID MONDO:0054843 ciliary dyskinesia, primary, 38 oio:hasExactSynonym oio:hasRelatedSynonym CILD38 DOID:0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618063 updated CILD38 DOID:0111852 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054844 pontocerebellar hypoplasia, type 1D oio:hasExactSynonym oio:hasRelatedSynonym PCH1D DOID:0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618065 updated PCH1D DOID:0112323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0054846 epilepsy, familial adult myoclonic, 6 oio:hasExactSynonym oio:hasRelatedSynonym benign Adult Familial myoclonic epilepsy 6 benign Adult Familial myoclonic epilepsy 6 benign adult familial myoclonic epilepsy 6 DOID:0111696 familial adult myoclonic epilepsy 6 OMIM:618074 updated benign Adult Familial myoclonic epilepsy 6 DOID:0111696 DOID @@ -31673,11 +30826,7 @@ MONDO:0100096 COVID-19 oio:hasExactSynonym oio:hasRelatedSynonym 2019 novel coro MONDO:0100130 adult acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ARDS DOID:11394 adult respiratory distress syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ORCID:0000-0002-2825-0621 updated ARDS DOID:11394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency DOID:0112225 BH4-deficient hyperphenylalaninemia B OMIM:233910 updated GTP cyclohydrolase 1 deficiency DOID:0112225 DOID MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym HPABH4B DOID:0112225 BH4-deficient hyperphenylalaninemia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:233910, MONDO:Lexical updated HPABH4B DOID:0112225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 oio:hasExactSynonym oio:hasBroadSynonym mitochondrial complex I deficiency DOID:0060536 mitochondrial complex I deficiency OMIM:252010 updated mitochondrial complex I deficiency DOID:0060536 DOID -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome oio:hasExactSynonym oio:hasBroadSynonym HHS DOID:0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0111063 updated HHS DOID:0110698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100280 Waldenstrom macroglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym Waldenstroem's macroglobulinemia DOID:0060901 lymphoplasmacytic lymphoma DOID:0060901 updated Waldenstroem's macroglobulinemia DOID:0060901 DOID -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques Orphanet:659 updated Olmsted syndrome DOID:0112011 DOID -MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia DOID:12705 Friedreich ataxia OMIM:229300, OMIM:genemap2 updated Friedreich ataxia DOID:12705 DOID MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial tumor DOID:3070 high grade glioma NCIT:C3059, DOID:3070 updated neuroglial tumor DOID:3070 DOID MONDO:0100350 neuronopathy, distal hereditary motor, type 5 oio:hasExactSynonym oio:hasBroadSynonym DHMN5 dHMN5 DHMN5 DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:139536 updated DHMN5 DOID:0111203 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic choreoathetosis DOID:0090053 episodic kinesigenic dyskinesia 1 OMIM:128200 updated paroxysmal kinesigenic choreoathetosis DOID:0090053 DOID @@ -31689,19 +30838,12 @@ MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSy MONDO:0100452 RPE65-related dominant retinopathy oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa 87 with choroidal involvement DOID:0112144 retinitis pigmentosa 87 https://clinicalgenome.org/affiliation/40072/ updated retinitis pigmentosa 87 with choroidal involvement DOID:0112144 DOID MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym oio:hasRelatedSynonym familiar ovarian carcinoma DOID:6901 familiar ovarian carcinoma DOID:6901 updated familiar ovarian carcinoma DOID:6901 DOID MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease Humeroperoneal neuromuscular disease humeroperoneal neuromuscular disease DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 OMIM:310300 updated Humeroperoneal neuromuscular disease DOID:0070246 DOID -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome DOID:0081073 Teebi hypertelorism syndrome Orphanet:1519 updated Teebi hypertelorism syndrome DOID:0081073 DOID MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 updated hereditary diffuse leukoencephalopathy with spheroids DOID:0080523 DOID -MONDO:0800029 interstitial lung disease 2 oio:hasRelatedSynonym oio:hasExactSynonym IPF DOID:2797 idiopathic interstitial pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178500 updated IPF DOID:2797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasNarrowSynonym Hamman-rich disease Hamman-rich disease Hamman-Rich disease DOID:2800 acute interstitial pneumonia OMIM:178500 updated Hamman-rich disease DOID:2800 DOID -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy DOID:0060762 restrictive dermopathy Orphanet:1662 updated restrictive dermopathy DOID:0060762 DOID -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 oio:hasExactSynonym oio:hasRelatedSynonym pascual-Castroviejo syndrome pascual-Castroviejo syndrome Pascual-Castroviejo syndrome DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome GARD:0001210 updated pascual-Castroviejo syndrome DOID:0081072 DOID -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 diphthamide deficiency syndrome OMIM:genemap2, OMIM:616901 updated developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 DOID MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome DOID:0070477 diphthamide deficiency syndrome 1 OMIM:616901 updated Loucks-Innes syndrome DOID:0070477 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing white matter DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 updated leukoencephalopathy with vanishing WHITE matter DOID:0060868 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter OMIM:603896 updated vanishing White matter leukodystrophy DOID:0060868 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter DOID:0060868 updated vanishing white matter leukodystrophy DOID:0060868 DOID MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH/VWM DOID:0060868 leukoencephalopathy with vanishing white matter http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000231 updated CACH/VWM DOID:0060868 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy DOID:0070367 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 updated Cree leukoencephalopathy DOID:0070367 DOID MONDO:0850289 human betaherpesvirus 5 infectious disease oio:hasExactSynonym oio:hasBroadSynonym human cytomegalovirus infection DOID:0080827 human cytomegalovirus infection DOID:0080827 updated human cytomegalovirus infection DOID:0080827 DOID MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital insufficiency of mitral valve congenital insufficiency of mitral valve Congenital insufficiency of mitral valve DOID:11502 mitral valve insufficiency DOID:11502 updated congenital insufficiency of mitral valve DOID:11502 DOID MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency DOID:11502 mitral valve insufficiency DOID:11502 updated congenital mitral insufficiency DOID:11502 DOID @@ -33309,8 +32451,8 @@ MONDO:0001234 adhesive otitis media oio:hasExactSynonym adhesive middle ear dis MONDO:0001238 polycythemia neonatorum oio:hasExactSynonym polycythemia neonatorum polycythemia neonatorum Polycythemia neonatorum ICD10CM:P61.1 Polycythemia neonatorum confirmed polycythemia neonatorum ICD10CM:P61.1 ICD10CM MONDO:0001244 vitamin K deficiency hemorrhagic disease oio:hasExactSynonym deficiency of vitamin K deficiency of vitamin K Deficiency of vitamin K ICD10CM:E56.1 Deficiency of vitamin K confirmed deficiency of vitamin K ICD10CM:E56.1 ICD10CM MONDO:0001258 vertebral artery occlusion oio:hasExactSynonym occlusion and stenosis of vertebral artery occlusion and stenosis of vertebral artery Occlusion and stenosis of vertebral artery ICD10CM:I65.0 Occlusion and stenosis of vertebral artery confirmed occlusion and stenosis of vertebral artery ICD10CM:I65.0 ICD10CM -MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession confirmed gingival recession ICD10CM:K06.0 ICD10CM MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession ICD10CM:K06.0 Gingival recession confirmed gingival recession ICD10CM:K06.0 ICD10CM +MONDO:0001268 gingival recession oio:hasExactSynonym gingival recession gingival recession Gingival recession ICD10CM:K06.0 Gingival recession confirmed gingival recession ICD10CM:K06.0 ICD10CM MONDO:0001276 expressive language disorder oio:hasExactSynonym expressive language disorder expressive language disorder Expressive language disorder ICD10CM:F80.1 Expressive language disorder confirmed expressive language disorder ICD10CM:F80.1 ICD10CM MONDO:0001286 exotropia oio:hasExactSynonym divergent concomitant strabismus divergent concomitant strabismus Divergent concomitant strabismus ICD10CM:H50.1 Exotropia confirmed divergent concomitant strabismus ICD10CM:H50.1 ICD10CM MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant neoplasm of subglottis malignant neoplasm of subglottis Malignant neoplasm of subglottis ICD10CM:C32.2 Malignant neoplasm of subglottis confirmed malignant neoplasm of subglottis ICD10CM:C32.2 ICD10CM @@ -33737,7 +32879,6 @@ MONDO:0016295 neuronal ceroid lipofuscinosis oio:hasExactSynonym neuronal ceroi MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym congenital hydrocephalus congenital hydrocephalus Congenital hydrocephalus ICD10CM:Q03 Congenital hydrocephalus confirmed congenital hydrocephalus ICD10CM:Q03 ICD10CM MONDO:0017137 onchocerciasis oio:hasExactSynonym Onchocerca volvulus infection Onchocerca volvulus infection onchocerca volvulus infection ICD10CM:B73 Onchocerciasis confirmed Onchocerca volvulus infection ICD10CM:B73 ICD10CM MONDO:0017137 onchocerciasis oio:hasExactSynonym onchocerciasis onchocerciasis Onchocerciasis ICD10CM:B73 Onchocerciasis confirmed onchocerciasis ICD10CM:B73 ICD10CM -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome ICD10CM:D68.61 Antiphospholipid syndrome confirmed Antiphospholipid Syndrome ICD10CM:D68.61 ICD10CM MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure ICD10CM:E31.0 Autoimmune polyglandular failure confirmed autoimmune polyglandular failure ICD10CM:E31.0 ICD10CM MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym ovalocytosis ICD10CM:D58.1 Hereditary elliptocytosis confirmed ovalocytosis ICD10CM:D58.1 ICD10CM MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella syndrome congenital rubella syndrome Congenital rubella syndrome ICD10CM:P35.0 Congenital rubella syndrome confirmed congenital rubella syndrome ICD10CM:P35.0 ICD10CM @@ -33747,7 +32888,6 @@ MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet r MONDO:0018150 Gaucher disease oio:hasExactSynonym Gaucher disease ICD10CM:E75.22 Gaucher disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Gaucher disease ICD10CM:E75.22 ICD10CM MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym Ritter's disease ICD10CM:L00 Staphylococcal scalded skin syndrome confirmed Ritter's disease ICD10CM:L00 ICD10CM MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome ICD10CM:L00 Staphylococcal scalded skin syndrome confirmed staphylococcal scalded skin syndrome ICD10CM:L00 ICD10CM -MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym pemphigus neonatorum pemphigus neonatorum Pemphigus neonatorum ICD10CM:L01.03 Bullous impetigo confirmed pemphigus neonatorum ICD10CM:L01.03 ICD10CM MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus disease ICD10CM:A92.5 Zika virus disease confirmed Zika virus disease ICD10CM:A92.5 ICD10CM MONDO:0018661 Zika virus infectious disease oio:hasExactSynonym Zika virus infection ICD10CM:A92.5 Zika virus disease confirmed Zika virus infection ICD10CM:A92.5 ICD10CM MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired ichthyosis ICD10CM:L85.0 Acquired ichthyosis confirmed acquired ichthyosis ICD10CM:L85.0 ICD10CM @@ -33776,7 +32916,6 @@ MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym heredit MONDO:0019186 Q fever oio:hasExactSynonym infection due to Coxiella burnetii infection due to Coxiella burnetii Infection due to Coxiella burnetii ICD10CM:A78 Q fever confirmed infection due to Coxiella burnetii ICD10CM:A78 ICD10CM MONDO:0019186 Q fever oio:hasExactSynonym nine Mile fever nine Mile fever Nine Mile fever ICD10CM:A78 Q fever confirmed nine Mile fever ICD10CM:A78 ICD10CM MONDO:0019186 Q fever oio:hasExactSynonym quadrilateral fever quadrilateral fever Quadrilateral fever ICD10CM:A78 Q fever confirmed quadrilateral fever ICD10CM:A78 ICD10CM -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome ICD10CM:K76.81 Hepatopulmonary syndrome confirmed Hepatopulmonary Syndrome ICD10CM:K76.81 ICD10CM MONDO:0019313 lymphatic malformation oio:hasExactSynonym hereditary lymphedema hereditary lymphedema Hereditary lymphedema ICD10CM:Q82.0 Hereditary lymphedema confirmed hereditary lymphedema ICD10CM:Q82.0 ICD10CM MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome ICD10CM:L10.4 Pemphigus erythematosus confirmed Senear-Usher syndrome ICD10CM:L10.4 ICD10CM MONDO:0019345 shigellosis oio:hasExactSynonym shigellosis shigellosis Shigellosis ICD10CM:A03 Shigellosis confirmed shigellosis ICD10CM:A03 ICD10CM @@ -33825,7 +32964,6 @@ MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American MONDO:0001875 epicondylitis oio:hasExactSynonym oio:hasRelatedSynonym tennis elbow tennis elbow Tennis elbow ICD10CM:M77.1 Lateral epicondylitis DOID:14087 updated tennis elbow ICD10CM:M77.1 ICD10CM MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym mycoses ICD10CM:B35-B49 Mycoses (B35-B49) DOID:1564 updated mycoses ICD10CM:B35-B49 ICD10CM MONDO:0002209 heel spur oio:hasExactSynonym oio:hasRelatedSynonym calcaneal spur calcaneal spur Calcaneal spur ICD10CM:M77.3 Calcaneal spur DOID:210, ICD9CM:726.73 updated calcaneal spur ICD10CM:M77.3 ICD10CM -MONDO:0003009 hyperaldosteronism oio:hasExactSynonym oio:hasRelatedSynonym primary hyperaldosteronism primary hyperaldosteronism Primary hyperaldosteronism ICD10CM:E26.0 Primary hyperaldosteronism DOID:446 updated primary hyperaldosteronism ICD10CM:E26.0 ICD10CM MONDO:0003406 sleep-wake disorder oio:hasExactSynonym oio:hasRelatedSynonym sleep disorders sleep disorders Sleep disorders ICD10CM:G47 Sleep disorders MESH:D012893 updated sleep disorders ICD10CM:G47 ICD10CM MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of anterior surface of epiglottis malignant neoplasm of anterior surface of epiglottis Malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 Malignant neoplasm of anterior surface of epiglottis DOID:8133, MTH:U001374 updated malignant neoplasm of anterior surface of epiglottis ICD10CM:C10.1 ICD10CM MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of carotid body malignant neoplasm of carotid body Malignant neoplasm of carotid body ICD10CM:C75.4 Malignant neoplasm of carotid body NCIT:C3574 updated malignant neoplasm of carotid body ICD10CM:C75.4 ICD10CM @@ -33842,7 +32980,6 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile keratosis ICD10CM:L57.0 Actinic keratosis NCIT:C3148 updated senile keratosis ICD10CM:L57.0 ICD10CM MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency ICD10CM:N18.9 Chronic kidney disease, unspecified NCIT:C80078 updated chronic renal insufficiency ICD10CM:N18.9 ICD10CM MONDO:0005301 multiple sclerosis oio:hasExactSynonym oio:hasNarrowSynonym generalized multiple sclerosis generalized multiple sclerosis Generalized multiple sclerosis ICD10CM:G35 Multiple sclerosis DOID:2377 updated generalized multiple sclerosis ICD10CM:G35 ICD10CM -MONDO:0005518 pseudohermaphroditism oio:hasExactSynonym oio:hasRelatedSynonym indeterminate sex and pseudohermaphroditism indeterminate sex and pseudohermaphroditism Indeterminate sex and pseudohermaphroditism ICD10CM:Q56 Indeterminate sex and pseudohermaphroditism DOID:3765 updated indeterminate sex and pseudohermaphroditism ICD10CM:Q56 ICD10CM MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant neoplasm of renal pelvis ICD10CM:C65 Malignant neoplasm of renal pelvis DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer updated malignant neoplasm of renal pelvis ICD10CM:C65 ICD10CM MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial palsy ICD10CM:G51.0 Bell's palsy NCIT:C26769 updated facial palsy ICD10CM:G51.0 ICD10CM MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever ICD10CM:A23 Brucellosis DOID:11077 updated Malta fever ICD10CM:A23 ICD10CM @@ -33867,8 +33004,6 @@ MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynony MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, type 2 neurofibromatosis, type 2 Neurofibromatosis, type 2 ICD10CM:Q85.02 Neurofibromatosis, type 2 OMIM:101000 updated neurofibromatosis, type 2 ICD10CM:Q85.02 ICD10CM MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 updated coarctation of aorta ICD10CM:Q25.1 ICD10CM MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta OMIM:120000 updated coarctation of aorta ICD10CM:Q25.1 ICD10CM -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica ICD10CM:A98.5 Hemorrhagic fever with renal syndrome OMIM:124100 updated nephropathia epidemica ICD10CM:A98.5 ICD10CM -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria vibratory urticaria Vibratory urticaria ICD10CM:L50.4 Vibratory urticaria MESH:C536612 updated vibratory urticaria ICD10CM:L50.4 ICD10CM MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188 updated autoimmune thyroiditis ICD10CM:E06.3 ICD10CM MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis DOID:7188, NCIT:C38766 updated lymphocytic thyroiditis ICD10CM:E06.3 ICD10CM MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris ichthyosis vulgaris Ichthyosis vulgaris ICD10CM:Q80.0 Ichthyosis vulgaris OMIM:146700 updated ichthyosis vulgaris ICD10CM:Q80.0 ICD10CM @@ -33886,7 +33021,6 @@ MONDO:0010565 red color blindness oio:hasExactSynonym oio:hasRelatedSynonym prot MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy associated with ragged-RED fibers Myoclonic epilepsy associated with ragged-red fibers ICD10CM:E88.42 MERRF syndrome MONDO:Lexical, OMIM:545000 updated myoclonic epilepsy associated with ragged-RED fibers ICD10CM:E88.42 ICD10CM MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia ICD10CM:A81.83 Fatal familial insomnia OMIM:600072 updated fatal familial INSOMNIA ICD10CM:A81.83 ICD10CM MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym FFI ICD10CM:A81.83 Fatal familial insomnia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600072 updated FFI ICD10CM:A81.83 http://purl.obolibrary.org/obo/mondo#ABBREVIATION ICD10CM -MONDO:0011989 leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym post-kala-azar dermal leishmaniasis post-kala-azar dermal leishmaniasis Post-kala-azar dermal leishmaniasis ICD10CM:B55.0 Visceral leishmaniasis DOID:9065 updated post-kala-azar dermal leishmaniasis ICD10CM:B55.0 ICD10CM MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 updated ALPHA-1-antitrypsin deficiency ICD10CM:E88.01 ICD10CM MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency ICD10CM:E88.01 Alpha-1-antitrypsin deficiency OMIM:613490 updated alpha-1-antitrypsin deficiency ICD10CM:E88.01 ICD10CM MONDO:0015947 inherited ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital ichthyosis congenital ichthyosis Congenital ichthyosis ICD10CM:Q80 Congenital ichthyosis updated congenital ichthyosis ICD10CM:Q80 ICD10CM @@ -38188,8 +37322,8 @@ MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym WWS NCIT:C99109 Walker-Warburg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WWS NCIT:C99109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym nuclear localization signal nuclear localization signal Nuclear Localization Signal NCIT:C14089 Nuclear Localization Signal confirmed nuclear localization signal NCIT:C14089 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VFib NCIT:C50799 Ventricular Fibrillation confirmed VFib NCIT:C50799 NCIT -MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation Ventricular Fibrillation NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT +MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VF NCIT:C50799 Ventricular Fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VF NCIT:C50799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia Autosomal Recessive Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia confirmed autosomal recessive infantile hypercalcemia NCIT:C129734 NCIT MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym idiopathic infantile hypercalcemia idiopathic infantile hypercalcemia Idiopathic Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed idiopathic infantile hypercalcemia NCIT:C129734 NCIT @@ -38338,8 +37472,8 @@ MONDO:0000473 arterial disorder oio:hasExactSynonym arterial disorder arterial MONDO:0000473 arterial disorder oio:hasExactSynonym arteriopathy arteriopathy Arteriopathy NCIT:C35317 Arterial Disorder confirmed arteriopathy NCIT:C35317 NCIT MONDO:0000490 glomerulosclerosis oio:hasExactSynonym glomerular sclerosis glomerular sclerosis Glomerular Sclerosis NCIT:C120888 Glomerulosclerosis confirmed glomerular sclerosis NCIT:C120888 NCIT MONDO:0000495 oppositional defiant disorder oio:hasExactSynonym oppositional defiant disorder oppositional defiant disorder Oppositional Defiant Disorder NCIT:C92565 Oppositional Defiant Disorder confirmed oppositional defiant disorder NCIT:C92565 NCIT -MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra Pyometra NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT +MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of the tongue scc of the tongue SCC of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed scc of the tongue NCIT:C4648 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of tongue scc of tongue SCC of Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed scc of tongue NCIT:C4648 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tongue squamous cell carcinoma of the tongue Squamous Cell Carcinoma of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed squamous cell carcinoma of the tongue NCIT:C4648 NCIT @@ -38378,8 +37512,8 @@ MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic Paraganglionic neoplasm extra-adrenal sympathetic Paraganglionic neoplasm Extra-Adrenal Sympathetic Paraganglionic Neoplasm NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extra-adrenal sympathetic Paraganglionic neoplasm NCIT:C48576 NCIT MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic paraganglioma extra-adrenal sympathetic paraganglioma Extra-Adrenal Sympathetic Paraganglioma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extra-adrenal sympathetic paraganglioma NCIT:C48576 NCIT MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extraadrenal pheochromocytoma extraadrenal pheochromocytoma Extraadrenal Pheochromocytoma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extraadrenal pheochromocytoma NCIT:C48576 NCIT -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular Adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT +MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular breast carcinoma lobular breast carcinoma Lobular Breast Carcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular breast carcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular carcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular Carcinoma of Breast NCIT:C3771 Breast Lobular Carcinoma confirmed lobular carcinoma of breast NCIT:C3771 NCIT @@ -38427,8 +37561,6 @@ MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm confirmed benign osseous tumor NCIT:C4880 NCIT MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of bone benign tumor of bone Benign Tumor of Bone NCIT:C4880 Benign Bone Neoplasm confirmed benign tumor of bone NCIT:C4880 NCIT MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign tumor of the bone benign tumor of the bone Benign Tumor of the Bone NCIT:C4880 Benign Bone Neoplasm confirmed benign tumor of the bone NCIT:C4880 NCIT -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm confirmed benign osseous neoplasm NCIT:C6602 NCIT -MONDO:0000631 bone benign neoplasm oio:hasExactSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm confirmed benign osseous tumor NCIT:C6602 NCIT MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous neoplasms, benign Uterous neoplasms, benign Uterous Neoplasms, Benign NCIT:C3609 Benign Uterine Neoplasm confirmed Uterous neoplasms, benign NCIT:C3609 NCIT MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym Uterous tumors, benign Uterous tumors, benign Uterous Tumors, Benign NCIT:C3609 Benign Uterine Neoplasm confirmed Uterous tumors, benign NCIT:C3609 NCIT MONDO:0000632 uterine benign neoplasm oio:hasExactSynonym benign neoplasm of the uterus benign neoplasm of the uterus Benign Neoplasm of the Uterus NCIT:C3609 Benign Uterine Neoplasm confirmed benign neoplasm of the uterus NCIT:C3609 NCIT @@ -38622,7 +37754,6 @@ MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoblastic lymphoma MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym lymphoma, lymphoblastic, malignant lymphoma, lymphoblastic, malignant LYMPHOMA, LYMPHOBLASTIC, MALIGNANT NCIT:C9360 Lymphoblastic Lymphoma confirmed lymphoma, lymphoblastic, malignant NCIT:C9360 NCIT MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor cell lymphoblastic lymphoma precursor cell lymphoblastic lymphoma Precursor Cell Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma confirmed precursor cell lymphoblastic lymphoma NCIT:C9360 NCIT MONDO:0000873 lymphoblastic lymphoma oio:hasExactSynonym precursor lymphoblastic lymphoma precursor lymphoblastic lymphoma Precursor Lymphoblastic Lymphoma NCIT:C9360 Lymphoblastic Lymphoma confirmed precursor lymphoblastic lymphoma NCIT:C9360 NCIT -MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed T lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym T lymphoblastic lymphoma T lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma confirmed T lymphoblastic lymphoma NCIT:C7210 NCIT MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood T lymphoblastic lymphoma childhood T lymphoblastic lymphoma Childhood T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma confirmed childhood T lymphoblastic lymphoma NCIT:C7210 NCIT MONDO:0000874 T-cell childhood lymphoblastic lymphoma oio:hasExactSynonym childhood precursor T-lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma Childhood Precursor T-Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma confirmed childhood precursor T-lymphoblastic lymphoma NCIT:C7210 NCIT @@ -38648,8 +37779,6 @@ MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant neoplasm of MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of Vater malignant tumor of ampulla of Vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm confirmed malignant tumor of ampulla of Vater NCIT:C3536 NCIT MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of ampulla of vater malignant tumor of ampulla of vater Malignant Tumor of Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm confirmed malignant tumor of ampulla of vater NCIT:C3536 NCIT MONDO:0000919 ampulla of vater cancer oio:hasExactSynonym malignant tumor of the ampulla of Vater malignant tumor of the ampulla of Vater Malignant Tumor of the Ampulla of Vater NCIT:C3536 Malignant Ampulla of Vater Neoplasm confirmed malignant tumor of the ampulla of Vater NCIT:C3536 NCIT -MONDO:0000920 duodenum cancer oio:hasExactSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma confirmed cancer of duodenum NCIT:C4803 NCIT -MONDO:0000920 duodenum cancer oio:hasExactSynonym duodenal cancer duodenal cancer Duodenal Cancer NCIT:C4803 Duodenal Carcinoma confirmed duodenal cancer NCIT:C4803 NCIT MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal neoplasm malignant duodenal neoplasm Malignant Duodenal Neoplasm NCIT:C9328 Malignant Duodenal Neoplasm confirmed malignant duodenal neoplasm NCIT:C9328 NCIT MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant duodenal tumor malignant duodenal tumor Malignant Duodenal Tumor NCIT:C9328 Malignant Duodenal Neoplasm confirmed malignant duodenal tumor NCIT:C9328 NCIT MONDO:0000920 duodenum cancer oio:hasExactSynonym malignant neoplasm of duodenum malignant neoplasm of duodenum Malignant Neoplasm of Duodenum NCIT:C9328 Malignant Duodenal Neoplasm confirmed malignant neoplasm of duodenum NCIT:C9328 NCIT @@ -38728,7 +37857,6 @@ MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of sma MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of small intestine malignant tumor of small intestine Malignant Tumor of Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm confirmed malignant tumor of small intestine NCIT:C7523 NCIT MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small bowel malignant tumor of the small bowel Malignant Tumor of the Small Bowel NCIT:C7523 Malignant Small Intestinal Neoplasm confirmed malignant tumor of the small bowel NCIT:C7523 NCIT MONDO:0000956 small intestine cancer oio:hasExactSynonym malignant tumor of the small intestine malignant tumor of the small intestine Malignant Tumor of the Small Intestine NCIT:C7523 Malignant Small Intestinal Neoplasm confirmed malignant tumor of the small intestine NCIT:C7523 NCIT -MONDO:0000956 small intestine cancer oio:hasExactSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma confirmed small intestine cancer NCIT:C7724 NCIT MONDO:0000960 diabetic peripheral angiopathy oio:hasExactSynonym diabetic vascular disorder diabetic vascular disorder Diabetic Vascular Disorder NCIT:C35610 Diabetic Vascular Disorder confirmed diabetic vascular disorder NCIT:C35610 NCIT MONDO:0000961 endobronchial lipoma oio:hasExactSynonym endobronchial lipoma endobronchial lipoma Endobronchial Lipoma NCIT:C5063 Endobronchial Lipoma confirmed endobronchial lipoma NCIT:C5063 NCIT MONDO:0000962 spindle cell lipoma oio:hasExactSynonym spindle cell lipoma spindle cell lipoma Spindle Cell Lipoma NCIT:C4254 Spindle Cell Lipoma confirmed spindle cell lipoma NCIT:C4254 NCIT @@ -38744,8 +37872,8 @@ MONDO:0000965 liver lipoma oio:hasExactSynonym hepatic lipoma hepatic lipoma He MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of liver lipoma of liver Lipoma of Liver NCIT:C5750 Liver Lipoma confirmed lipoma of liver NCIT:C5750 NCIT MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of the liver lipoma of the liver Lipoma of the Liver NCIT:C5750 Liver Lipoma confirmed lipoma of the liver NCIT:C5750 NCIT MONDO:0000965 liver lipoma oio:hasExactSynonym liver lipoma liver lipoma Liver Lipoma NCIT:C5750 Liver Lipoma confirmed liver lipoma NCIT:C5750 NCIT -MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT +MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT MONDO:0000967 conventional lipoma oio:hasExactSynonym classic type lipoma classic type lipoma Classic Type Lipoma NCIT:C27530 Conventional Lipoma confirmed classic type lipoma NCIT:C27530 NCIT MONDO:0000967 conventional lipoma oio:hasExactSynonym conventional lipoma conventional lipoma Conventional Lipoma NCIT:C27530 Conventional Lipoma confirmed conventional lipoma NCIT:C27530 NCIT MONDO:0000968 kidney lipoma oio:hasExactSynonym kidney lipoma kidney lipoma Kidney Lipoma NCIT:C5101 Kidney Lipoma confirmed kidney lipoma NCIT:C5101 NCIT @@ -38821,10 +37949,6 @@ MONDO:0001045 intestinal atresia oio:hasExactSynonym congenital intestinal atre MONDO:0001045 intestinal atresia oio:hasExactSynonym intestinal atresia intestinal atresia Intestinal Atresia NCIT:C84790 Intestinal Atresia confirmed intestinal atresia NCIT:C84790 NCIT MONDO:0001046 imperforate anus oio:hasExactSynonym anal atresia anal atresia Anal Atresia NCIT:C84784 Imperforate Anus confirmed anal atresia NCIT:C84784 NCIT MONDO:0001046 imperforate anus oio:hasExactSynonym imperforate anus imperforate anus Imperforate Anus NCIT:C84784 Imperforate Anus confirmed imperforate anus NCIT:C84784 NCIT -MONDO:0001056 gastric cancer oio:hasExactSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma confirmed cancer of stomach NCIT:C4911 NCIT -MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma confirmed gastric cancer NCIT:C4911 NCIT -MONDO:0001056 gastric cancer oio:hasExactSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma confirmed stomach cancer NCIT:C4911 NCIT -MONDO:0001056 gastric cancer oio:hasExactSynonym GC NCIT:C92950 Gonorrhea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GC NCIT:C92950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric neoplasm malignant gastric neoplasm Malignant Gastric Neoplasm NCIT:C9331 Malignant Gastric Neoplasm confirmed malignant gastric neoplasm NCIT:C9331 NCIT MONDO:0001056 gastric cancer oio:hasExactSynonym malignant gastric tumor malignant gastric tumor Malignant Gastric Tumor NCIT:C9331 Malignant Gastric Neoplasm confirmed malignant gastric tumor NCIT:C9331 NCIT MONDO:0001056 gastric cancer oio:hasExactSynonym malignant neoplasm of stomach malignant neoplasm of stomach Malignant Neoplasm of Stomach NCIT:C9331 Malignant Gastric Neoplasm confirmed malignant neoplasm of stomach NCIT:C9331 NCIT @@ -38899,8 +38023,6 @@ MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of nas MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant neoplasm of the nasal cavity malignant neoplasm of the nasal cavity Malignant Neoplasm of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm confirmed malignant neoplasm of the nasal cavity NCIT:C4918 NCIT MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of nasal cavity malignant tumor of nasal cavity Malignant Tumor of Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm confirmed malignant tumor of nasal cavity NCIT:C4918 NCIT MONDO:0001128 nasal cavity cancer oio:hasExactSynonym malignant tumor of the nasal cavity malignant tumor of the nasal cavity Malignant Tumor of the Nasal Cavity NCIT:C4918 Malignant Nasal Cavity Neoplasm confirmed malignant tumor of the nasal cavity NCIT:C4918 NCIT -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma confirmed cancer of nasal cavity NCIT:C9336 NCIT -MONDO:0001128 nasal cavity cancer oio:hasExactSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma confirmed nasal cavity cancer NCIT:C9336 NCIT MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym nasal cavity olfactory neuroblastoma nasal cavity olfactory neuroblastoma Nasal Cavity Olfactory Neuroblastoma NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma confirmed nasal cavity olfactory neuroblastoma NCIT:C7604 NCIT MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of nasal cavity olfactory neuroblastoma of nasal cavity Olfactory Neuroblastoma of Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma confirmed olfactory neuroblastoma of nasal cavity NCIT:C7604 NCIT MONDO:0001129 nasal cavity olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma of the nasal cavity olfactory neuroblastoma of the nasal cavity Olfactory Neuroblastoma of the Nasal Cavity NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma confirmed olfactory neuroblastoma of the nasal cavity NCIT:C7604 NCIT @@ -38918,9 +38040,7 @@ MONDO:0001147 meningocele oio:hasExactSynonym central nervous system meningocel MONDO:0001147 meningocele oio:hasExactSynonym meningocele meningocele Meningocele NCIT:C105595 Meningocele confirmed meningocele NCIT:C105595 NCIT MONDO:0001149 microcephaly oio:hasExactSynonym microcephalus microcephalus Microcephalus NCIT:C85874 Microcephaly confirmed microcephalus NCIT:C85874 NCIT MONDO:0001149 microcephaly oio:hasExactSynonym microcephaly microcephaly Microcephaly NCIT:C85874 Microcephaly confirmed microcephaly NCIT:C85874 NCIT -MONDO:0001156 borderline personality disorder oio:hasExactSynonym BPD NCIT:C90599 Bronchopulmonary Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BPD NCIT:C90599 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001156 borderline personality disorder oio:hasExactSynonym borderline personality disorder borderline personality disorder Borderline Personality Disorder NCIT:C92633 Borderline Personality Disorder confirmed borderline personality disorder NCIT:C92633 NCIT -MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001158 obsessive-compulsive personality disorder oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001159 multiple personality disorder oio:hasExactSynonym dissociative identity disorder dissociative identity disorder Dissociative Identity Disorder NCIT:C94330 Dissociative Identity Disorder confirmed dissociative identity disorder NCIT:C94330 NCIT MONDO:0001162 impulse control disorder oio:hasExactSynonym impulse-control disorder impulse-control disorder Impulse-Control Disorder NCIT:C34723 Impulse-Control Disorder confirmed impulse-control disorder NCIT:C34723 NCIT @@ -38931,8 +38051,6 @@ MONDO:0001167 spastic diplegia oio:hasExactSynonym Little's disease Little's di MONDO:0001172 salpingo-oophoritis oio:hasExactSynonym Tubo-ovarian inflammatory disease Tubo-ovarian inflammatory disease Tubo-Ovarian Inflammatory Disease NCIT:C171201 Salpingo-Oophoritis confirmed Tubo-ovarian inflammatory disease NCIT:C171201 NCIT MONDO:0001174 conjunctival vascular disorder oio:hasExactSynonym conjunctival vascular disorder conjunctival vascular disorder Conjunctival Vascular Disorder NCIT:C35116 Conjunctival Vascular Disorder confirmed conjunctival vascular disorder NCIT:C35116 NCIT MONDO:0001176 lens disorder oio:hasExactSynonym lens disorder lens disorder Lens Disorder NCIT:C26812 Lens Disorder confirmed lens disorder NCIT:C26812 NCIT -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym cancer of urinary bladder cancer of urinary bladder Cancer of Urinary Bladder NCIT:C4912 Bladder Carcinoma confirmed cancer of urinary bladder NCIT:C4912 NCIT -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym urinary bladder cancer urinary bladder cancer Urinary Bladder Cancer NCIT:C4912 Bladder Carcinoma confirmed urinary bladder cancer NCIT:C4912 NCIT MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder neoplasm malignant bladder neoplasm Malignant Bladder Neoplasm NCIT:C9334 Malignant Bladder Neoplasm confirmed malignant bladder neoplasm NCIT:C9334 NCIT MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant bladder tumor malignant bladder tumor Malignant Bladder Tumor NCIT:C9334 Malignant Bladder Neoplasm confirmed malignant bladder tumor NCIT:C9334 NCIT MONDO:0001187 urinary bladder cancer oio:hasExactSynonym malignant neoplasm of bladder malignant neoplasm of bladder Malignant Neoplasm of Bladder NCIT:C9334 Malignant Bladder Neoplasm confirmed malignant neoplasm of bladder NCIT:C9334 NCIT @@ -39056,7 +38174,6 @@ MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis neopla MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant subglottis tumor malignant subglottis tumor Malignant Subglottis Tumor NCIT:C3546 Malignant Subglottis Neoplasm confirmed malignant subglottis tumor NCIT:C3546 NCIT MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of subglottis malignant tumor of subglottis Malignant Tumor of Subglottis NCIT:C3546 Malignant Subglottis Neoplasm confirmed malignant tumor of subglottis NCIT:C3546 NCIT MONDO:0001293 subglottis cancer oio:hasExactSynonym malignant tumor of the subglottis malignant tumor of the subglottis Malignant Tumor of the Subglottis NCIT:C3546 Malignant Subglottis Neoplasm confirmed malignant tumor of the subglottis NCIT:C3546 NCIT -MONDO:0001293 subglottis cancer oio:hasExactSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma confirmed cancer of subglottis NCIT:C5972 NCIT MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner syndrome Horner syndrome Horner Syndrome NCIT:C28155 Horner Syndrome confirmed Horner syndrome NCIT:C28155 NCIT MONDO:0001294 Horner syndrome oio:hasExactSynonym Horner's syndrome Horner's syndrome Horner's Syndrome NCIT:C28155 Horner Syndrome confirmed Horner's syndrome NCIT:C28155 NCIT MONDO:0001297 cardiac tamponade oio:hasExactSynonym pericardial tamponade pericardial tamponade Pericardial Tamponade NCIT:C50481 Cardiac Tamponade confirmed pericardial tamponade NCIT:C50481 NCIT @@ -39077,8 +38194,6 @@ MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile neoplasm malig MONDO:0001325 penile cancer oio:hasExactSynonym malignant penile tumor malignant penile tumor Malignant Penile Tumor NCIT:C7547 Malignant Penile Neoplasm confirmed malignant penile tumor NCIT:C7547 NCIT MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of penis malignant tumor of penis Malignant Tumor of Penis NCIT:C7547 Malignant Penile Neoplasm confirmed malignant tumor of penis NCIT:C7547 NCIT MONDO:0001325 penile cancer oio:hasExactSynonym malignant tumor of the penis malignant tumor of the penis Malignant Tumor of the Penis NCIT:C7547 Malignant Penile Neoplasm confirmed malignant tumor of the penis NCIT:C7547 NCIT -MONDO:0001325 penile cancer oio:hasExactSynonym cancer of penis cancer of penis Cancer of Penis NCIT:C9061 Penile Carcinoma confirmed cancer of penis NCIT:C9061 NCIT -MONDO:0001325 penile cancer oio:hasExactSynonym penile cancer penile cancer Penile Cancer NCIT:C9061 Penile Carcinoma confirmed penile cancer NCIT:C9061 NCIT MONDO:0001340 heart cancer oio:hasExactSynonym Cardiac neoplasm, malignant Cardiac neoplasm, malignant Cardiac Neoplasm, Malignant NCIT:C3548 Malignant Cardiac Neoplasm confirmed Cardiac neoplasm, malignant NCIT:C3548 NCIT MONDO:0001340 heart cancer oio:hasExactSynonym heart cancer heart cancer Heart Cancer NCIT:C3548 Malignant Cardiac Neoplasm confirmed heart cancer NCIT:C3548 NCIT MONDO:0001340 heart cancer oio:hasExactSynonym malignant Cardiac neoplasm malignant Cardiac neoplasm Malignant Cardiac Neoplasm NCIT:C3548 Malignant Cardiac Neoplasm confirmed malignant Cardiac neoplasm NCIT:C3548 NCIT @@ -39132,8 +38247,6 @@ MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter neurilemmoma uret MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureter schwannoma ureter schwannoma Ureter Schwannoma NCIT:C6162 Ureter Schwannoma confirmed ureter schwannoma NCIT:C6162 NCIT MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral neurilemmoma ureteral neurilemmoma Ureteral Neurilemmoma NCIT:C6162 Ureter Schwannoma confirmed ureteral neurilemmoma NCIT:C6162 NCIT MONDO:0001400 schwannoma of ureter oio:hasExactSynonym ureteral schwannoma ureteral schwannoma Ureteral Schwannoma NCIT:C6162 Ureter Schwannoma confirmed ureteral schwannoma NCIT:C6162 NCIT -MONDO:0001402 vaginal cancer oio:hasExactSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma confirmed cancer of vagina NCIT:C3917 NCIT -MONDO:0001402 vaginal cancer oio:hasExactSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma confirmed vagina cancer NCIT:C3917 NCIT MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of the vagina malignant neoplasm of the vagina Malignant Neoplasm of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm confirmed malignant neoplasm of the vagina NCIT:C7410 NCIT MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant neoplasm of vagina malignant neoplasm of vagina Malignant Neoplasm of Vagina NCIT:C7410 Malignant Vaginal Neoplasm confirmed malignant neoplasm of vagina NCIT:C7410 NCIT MONDO:0001402 vaginal cancer oio:hasExactSynonym malignant tumor of the vagina malignant tumor of the vagina Malignant Tumor of the Vagina NCIT:C7410 Malignant Vaginal Neoplasm confirmed malignant tumor of the vagina NCIT:C7410 NCIT @@ -39178,8 +38291,6 @@ MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal neoplasm m MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tracheal tumor malignant tracheal tumor Malignant Tracheal Tumor NCIT:C9346 Malignant Tracheal Neoplasm confirmed malignant tracheal tumor NCIT:C9346 NCIT MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of the trachea malignant tumor of the trachea Malignant Tumor of the Trachea NCIT:C9346 Malignant Tracheal Neoplasm confirmed malignant tumor of the trachea NCIT:C9346 NCIT MONDO:0001407 tracheal cancer oio:hasExactSynonym malignant tumor of trachea malignant tumor of trachea Malignant Tumor of Trachea NCIT:C9346 Malignant Tracheal Neoplasm confirmed malignant tumor of trachea NCIT:C9346 NCIT -MONDO:0001407 tracheal cancer oio:hasExactSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma confirmed cancer of trachea NCIT:C9347 NCIT -MONDO:0001407 tracheal cancer oio:hasExactSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma confirmed trachea cancer NCIT:C9347 NCIT MONDO:0001409 esophagitis oio:hasExactSynonym esophagitis esophagitis Esophagitis NCIT:C9224 Esophagitis confirmed esophagitis NCIT:C9224 NCIT MONDO:0001414 osteopoikilosis oio:hasExactSynonym osteopoikilosis osteopoikilosis Osteopoikilosis NCIT:C84985 Osteopoikilosis confirmed osteopoikilosis NCIT:C84985 NCIT MONDO:0001415 atrophy of testis oio:hasExactSynonym testicular atrophy testicular atrophy Testicular Atrophy NCIT:C123259 Testicular Atrophy confirmed testicular atrophy NCIT:C123259 NCIT @@ -39274,7 +38385,6 @@ MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of lab MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant neoplasm of the labia minora malignant neoplasm of the labia minora Malignant Neoplasm of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm confirmed malignant neoplasm of the labia minora NCIT:C7637 NCIT MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of labia minora malignant tumor of labia minora Malignant Tumor of Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm confirmed malignant tumor of labia minora NCIT:C7637 NCIT MONDO:0001526 labia minora cancer oio:hasExactSynonym malignant tumor of the labia minora malignant tumor of the labia minora Malignant Tumor of the Labia Minora NCIT:C7637 Malignant Labia Minora Neoplasm confirmed malignant tumor of the labia minora NCIT:C7637 NCIT -MONDO:0001528 vulva cancer oio:hasExactSynonym vulvar cancer vulvar cancer Vulvar Cancer NCIT:C4866 Vulvar Carcinoma confirmed vulvar cancer NCIT:C4866 NCIT MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of the vulva malignant neoplasm of the vulva Malignant Neoplasm of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm confirmed malignant neoplasm of the vulva NCIT:C7502 NCIT MONDO:0001528 vulva cancer oio:hasExactSynonym malignant neoplasm of vulva malignant neoplasm of vulva Malignant Neoplasm of Vulva NCIT:C7502 Malignant Vulvar Neoplasm confirmed malignant neoplasm of vulva NCIT:C7502 NCIT MONDO:0001528 vulva cancer oio:hasExactSynonym malignant tumor of the vulva malignant tumor of the vulva Malignant Tumor of the Vulva NCIT:C7502 Malignant Vulvar Neoplasm confirmed malignant tumor of the vulva NCIT:C7502 NCIT @@ -39334,7 +38444,6 @@ MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of la MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant neoplasm of the lacrimal duct malignant neoplasm of the lacrimal duct Malignant Neoplasm of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm confirmed malignant neoplasm of the lacrimal duct NCIT:C3567 NCIT MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of lacrimal duct malignant tumor of lacrimal duct Malignant Tumor of Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm confirmed malignant tumor of lacrimal duct NCIT:C3567 NCIT MONDO:0001580 lacrimal duct cancer oio:hasExactSynonym malignant tumor of the lacrimal duct malignant tumor of the lacrimal duct Malignant Tumor of the Lacrimal Duct NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm confirmed malignant tumor of the lacrimal duct NCIT:C3567 NCIT -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I confirmed Mucopolysaccharidosis Type I NCIT:C85053 NCIT MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis Type I NCIT:C85053 Mucopolysaccharidosis Type I confirmed mucopolysaccharidosis type I NCIT:C85053 NCIT MONDO:0001590 quadriplegia oio:hasExactSynonym bilateral diplegia bilateral diplegia Bilateral Diplegia NCIT:C50721 Quadriplegia confirmed bilateral diplegia NCIT:C50721 NCIT @@ -39565,8 +38674,8 @@ MONDO:0001825 squamous papilloma oio:hasExactSynonym epidermoid papilloma epide MONDO:0001825 squamous papilloma oio:hasExactSynonym keratotic papilloma keratotic papilloma Keratotic Papilloma NCIT:C3712 Squamous Papilloma confirmed keratotic papilloma NCIT:C3712 NCIT MONDO:0001825 squamous papilloma oio:hasExactSynonym papilloma, squamous cell, benign papilloma, squamous cell, benign PAPILLOMA, SQUAMOUS CELL, BENIGN NCIT:C3712 Squamous Papilloma confirmed papilloma, squamous cell, benign NCIT:C3712 NCIT MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous cell papilloma squamous cell papilloma Squamous Cell Papilloma NCIT:C3712 Squamous Papilloma confirmed squamous cell papilloma NCIT:C3712 NCIT -MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma confirmed squamous papilloma NCIT:C3712 NCIT MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous Papilloma NCIT:C3712 Squamous Papilloma confirmed squamous papilloma NCIT:C3712 NCIT +MONDO:0001825 squamous papilloma oio:hasExactSynonym squamous papilloma squamous papilloma Squamous papilloma NCIT:C3712 Squamous Papilloma confirmed squamous papilloma NCIT:C3712 NCIT MONDO:0001832 bacterial esophagitis oio:hasExactSynonym bacterial esophagitis bacterial esophagitis Bacterial Esophagitis NCIT:C27106 Bacterial Esophagitis confirmed bacterial esophagitis NCIT:C27106 NCIT MONDO:0001834 visual pathway disorder oio:hasExactSynonym visual pathway disorder visual pathway disorder Visual Pathway Disorder NCIT:C35342 Visual Pathway Disorder confirmed visual pathway disorder NCIT:C35342 NCIT MONDO:0001836 amenorrhea oio:hasExactSynonym amenorrhea amenorrhea Amenorrhea NCIT:C61443 Amenorrhea confirmed amenorrhea NCIT:C61443 NCIT @@ -39595,7 +38704,6 @@ MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of anus malign MONDO:0001879 anus cancer oio:hasExactSynonym malignant neoplasm of the anus malignant neoplasm of the anus Malignant Neoplasm of the Anus NCIT:C7379 Malignant Anal Neoplasm confirmed malignant neoplasm of the anus NCIT:C7379 NCIT MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of anus malignant tumor of anus Malignant Tumor of Anus NCIT:C7379 Malignant Anal Neoplasm confirmed malignant tumor of anus NCIT:C7379 NCIT MONDO:0001879 anus cancer oio:hasExactSynonym malignant tumor of the anus malignant tumor of the anus Malignant Tumor of the Anus NCIT:C7379 Malignant Anal Neoplasm confirmed malignant tumor of the anus NCIT:C7379 NCIT -MONDO:0001879 anus cancer oio:hasExactSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma confirmed cancer of anus NCIT:C9291 NCIT MONDO:0001881 toxic shock syndrome oio:hasExactSynonym toxic shock syndrome toxic shock syndrome Toxic Shock Syndrome NCIT:C35498 Toxic Shock Syndrome confirmed toxic shock syndrome NCIT:C35498 NCIT MONDO:0001881 toxic shock syndrome oio:hasExactSynonym TSS NCIT:C35498 Toxic Shock Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TSS NCIT:C35498 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001884 abducens nerve neoplasm oio:hasExactSynonym VIth cranial nerve neoplasms VIth cranial nerve neoplasms VIth Cranial Nerve Neoplasms NCIT:C5826 Abducens Nerve Neoplasm confirmed VIth cranial nerve neoplasms NCIT:C5826 NCIT @@ -39751,12 +38859,10 @@ MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym methylmalonic aciduria methylmalonic aciduria Methylmalonic Aciduria NCIT:C98986 Methylmalonic Acidemia confirmed methylmalonic aciduria NCIT:C98986 NCIT MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma NCIT:C8965 Lymphangioma confirmed lymphangioma NCIT:C8965 NCIT MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma, benign lymphangioma, benign LYMPHANGIOMA, BENIGN NCIT:C8965 Lymphangioma confirmed lymphangioma, benign NCIT:C8965 NCIT -MONDO:0002017 olivopontocerebellar atrophy oio:hasExactSynonym WADIA-swami syndrome WADIA-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 confirmed WADIA-swami syndrome NCIT:C148315 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disease Psychiatric disease Psychiatric Disease NCIT:C2893 Psychiatric Disorder confirmed Psychiatric disease NCIT:C2893 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder NCIT:C2893 Psychiatric Disorder confirmed Psychiatric disorder NCIT:C2893 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym Psychiatric disorder Psychiatric disorder Psychiatric Disorder NCIT:C2893 Psychiatric Disorder confirmed Psychiatric disorder NCIT:C2893 NCIT MONDO:0002026 candidiasis oio:hasExactSynonym Candida infection Candida infection Candida Infection NCIT:C26711 Candidiasis confirmed Candida infection NCIT:C26711 NCIT -MONDO:0002026 candidiasis oio:hasExactSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis confirmed thrush NCIT:C28137 NCIT MONDO:0002028 personality disorder oio:hasExactSynonym personality disorder personality disorder Personality Disorder NCIT:C34922 Personality Disorder confirmed personality disorder NCIT:C34922 NCIT MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of colon carcinoma of colon Carcinoma of Colon NCIT:C4910 Colon Carcinoma confirmed carcinoma of colon NCIT:C4910 NCIT MONDO:0002032 colon carcinoma oio:hasExactSynonym carcinoma of the colon carcinoma of the colon Carcinoma of the Colon NCIT:C4910 Colon Carcinoma confirmed carcinoma of the colon NCIT:C4910 NCIT @@ -39788,7 +38894,6 @@ MONDO:0002038 head and neck carcinoma oio:hasExactSynonym head and neck carcino MONDO:0002039 cognitive disorder oio:hasExactSynonym cognitive disorder cognitive disorder Cognitive Disorder NCIT:C92196 Cognitive Disorder confirmed cognitive disorder NCIT:C92196 NCIT MONDO:0002041 fungal infectious disease oio:hasExactSynonym mycosis mycosis Mycosis NCIT:C3245 Fungal Infection confirmed mycosis NCIT:C3245 NCIT MONDO:0002045 communicating hydrocephalus oio:hasExactSynonym non-obstructive hydrocephalus non-obstructive hydrocephalus Non-Obstructive Hydrocephalus NCIT:C34501 Communicating Hydrocephalus confirmed non-obstructive hydrocephalus NCIT:C34501 NCIT -MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia confirmed immune thrombocytopenia NCIT:C3446 NCIT MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction confirmed immune thrombocytopenia NCIT:C3991 NCIT MONDO:0002048 thrombocytopenia due to immune destruction oio:hasExactSynonym thrombocytopenia due to immune destruction thrombocytopenia due to immune destruction Thrombocytopenia Due to Immune Destruction NCIT:C3991 Thrombocytopenia Due to Immune Destruction confirmed thrombocytopenia due to immune destruction NCIT:C3991 NCIT MONDO:0002050 depressive disorder oio:hasExactSynonym depression depression Depression NCIT:C2982 Depression confirmed depression NCIT:C2982 NCIT @@ -39806,10 +38911,10 @@ MONDO:0002056 breast fibroadenoma oio:hasExactSynonym fibroadenoma, benign fibr MONDO:0002057 breast leiomyoma oio:hasExactSynonym breast leiomyoma breast leiomyoma Breast Leiomyoma NCIT:C40399 Breast Leiomyoma confirmed breast leiomyoma NCIT:C40399 NCIT MONDO:0002058 breast adenoma oio:hasExactSynonym breast adenoma breast adenoma Breast Adenoma NCIT:C40382 Breast Adenoma confirmed breast adenoma NCIT:C40382 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym duct adenoma duct adenoma Duct Adenoma NCIT:C3785 Intraductal Papilloma confirmed duct adenoma NCIT:C3785 NCIT -MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal Papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT -MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma confirmed intraductal papilloma NCIT:C3785 NCIT +MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal Papilloma NCIT:C3785 Intraductal Papilloma confirmed intraductal papilloma NCIT:C3785 NCIT +MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma confirmed intraductal papilloma NCIT:C3785 NCIT MONDO:0002061 intraductal papillary breast neoplasm oio:hasExactSynonym intraductal papillary breast neoplasm intraductal papillary breast neoplasm Intraductal Papillary Breast Neoplasm NCIT:C36090 Breast Intraductal Papillary Neoplasm confirmed intraductal papillary breast neoplasm NCIT:C36090 NCIT MONDO:0002062 breast myofibroblastoma oio:hasExactSynonym breast myofibroblastoma breast myofibroblastoma Breast Myofibroblastoma NCIT:C40397 Breast Myofibroblastoma confirmed breast myofibroblastoma NCIT:C40397 NCIT MONDO:0002065 benign breast adenomyoepithelioma oio:hasExactSynonym benign adenomyoepithelioma of breast benign adenomyoepithelioma of breast Benign Adenomyoepithelioma of Breast NCIT:C5144 Benign Breast Adenomyoepithelioma confirmed benign adenomyoepithelioma of breast NCIT:C5144 NCIT @@ -39918,7 +39023,6 @@ MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of facial nerve t MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of seventh cranial nerve tumor of seventh cranial nerve Tumor of Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm confirmed tumor of seventh cranial nerve NCIT:C5827 NCIT MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the Facial nerve tumor of the Facial nerve Tumor of the Facial Nerve NCIT:C5827 Facial Nerve Neoplasm confirmed tumor of the Facial nerve NCIT:C5827 NCIT MONDO:0002101 facial nerve neoplasm oio:hasExactSynonym tumor of the seventh cranial nerve tumor of the seventh cranial nerve Tumor of the Seventh Cranial Nerve NCIT:C5827 Facial Nerve Neoplasm confirmed tumor of the seventh cranial nerve NCIT:C5827 NCIT -MONDO:0002108 thyroid cancer oio:hasExactSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma confirmed thyroid gland cancer NCIT:C4815 NCIT MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid malignant neoplasm of the thyroid Malignant Neoplasm of the Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant neoplasm of the thyroid NCIT:C7510 NCIT MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of the thyroid gland malignant neoplasm of the thyroid gland Malignant Neoplasm of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant neoplasm of the thyroid gland NCIT:C7510 NCIT MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant neoplasm of thyroid malignant neoplasm of thyroid Malignant Neoplasm of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant neoplasm of thyroid NCIT:C7510 NCIT @@ -39931,8 +39035,6 @@ MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of the thyroid gland malignant tumor of the thyroid gland Malignant Tumor of the Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant tumor of the thyroid gland NCIT:C7510 NCIT MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid malignant tumor of thyroid Malignant Tumor of Thyroid NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant tumor of thyroid NCIT:C7510 NCIT MONDO:0002108 thyroid cancer oio:hasExactSynonym malignant tumor of thyroid gland malignant tumor of thyroid gland Malignant Tumor of Thyroid Gland NCIT:C7510 Malignant Thyroid Gland Neoplasm confirmed malignant tumor of thyroid gland NCIT:C7510 NCIT -MONDO:0002109 pituitary cancer oio:hasExactSynonym cancer of pituitary gland cancer of pituitary gland Cancer of Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor confirmed cancer of pituitary gland NCIT:C4536 NCIT -MONDO:0002109 pituitary cancer oio:hasExactSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor confirmed pituitary gland cancer NCIT:C4536 NCIT MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary malignant neoplasm of pituitary Malignant Neoplasm of Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm confirmed malignant neoplasm of pituitary NCIT:C4769 NCIT MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of pituitary gland malignant neoplasm of pituitary gland Malignant Neoplasm of Pituitary Gland NCIT:C4769 Malignant Pituitary Gland Neoplasm confirmed malignant neoplasm of pituitary gland NCIT:C4769 NCIT MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant neoplasm of the pituitary malignant neoplasm of the pituitary Malignant Neoplasm of the Pituitary NCIT:C4769 Malignant Pituitary Gland Neoplasm confirmed malignant neoplasm of the pituitary NCIT:C4769 NCIT @@ -39967,16 +39069,15 @@ MONDO:0002118 urinary system disorder oio:hasExactSynonym disorder of urinary s MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary system disorder urinary system disorder Urinary System Disorder NCIT:C3430 Urinary System Disorder confirmed urinary system disorder NCIT:C3430 NCIT MONDO:0002118 urinary system disorder oio:hasExactSynonym urinary tract disorder NCIT:C3430 Urinary System Disorder confirmed urinary tract disorder NCIT:C3430 NCIT MONDO:0002118 urinary system disorder oio:hasExactSynonym urologic disorder urologic disorder Urologic Disorder NCIT:C3430 Urinary System Disorder confirmed urologic disorder NCIT:C3430 NCIT -MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma confirmed ossifying fibroma NCIT:C173820 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying Fibroma NCIT:C173820 Ossifying Fibroma confirmed ossifying fibroma NCIT:C173820 NCIT -MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed Cementifying fibroma NCIT:C8422 NCIT +MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma confirmed ossifying fibroma NCIT:C173820 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma Cementifying fibroma Cementifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed Cementifying fibroma NCIT:C8422 NCIT +MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed Cementifying fibroma NCIT:C8422 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-Ossifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed cemento-ossifying fibroma NCIT:C8422 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-ossifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed cemento-ossifying fibroma NCIT:C8422 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine cancer neuroendocrine cancer Neuroendocrine Cancer NCIT:C3773 Neuroendocrine Carcinoma confirmed neuroendocrine cancer NCIT:C3773 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine carcinoma neuroendocrine carcinoma Neuroendocrine Carcinoma NCIT:C3773 Neuroendocrine Carcinoma confirmed neuroendocrine carcinoma NCIT:C3773 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002123 calcinosis oio:hasExactSynonym calcification calcification Calcification NCIT:C3672 Calcification confirmed calcification NCIT:C3672 NCIT MONDO:0002127 urethral stricture oio:hasExactSynonym urethral stricture urethral stricture Urethral Stricture NCIT:C79821 Urethral Stricture confirmed urethral stricture NCIT:C79821 NCIT MONDO:0002128 mononeuritis multiplex oio:hasExactSynonym mononeuritis multiplex mononeuritis multiplex Mononeuritis Multiplex NCIT:C70938 Mononeuritis Multiplex confirmed mononeuritis multiplex NCIT:C70938 NCIT @@ -40014,14 +39115,14 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storifor MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storiform-pleomorphic malignant fibrous histiocytoma Storiform-pleomorphic malignant fibrous histiocytoma Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed Storiform-pleomorphic malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed fibroxanthosarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym histiocytoma, fibrous, malignant histiocytoma, fibrous, malignant Histiocytoma, Fibrous, Malignant NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed histiocytoma, fibrous, malignant NCIT:C4247 NCIT -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of soft tissue and bone Malignant Fibrous Histiocytoma of Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma of soft tissue and bone NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of the soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone Malignant Fibrous Histiocytoma of the Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma of the soft tissue and bone NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma malignant fibroxanthoma Malignant Fibroxanthoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibroxanthoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym unclassified pleomorphic sarcoma unclassified pleomorphic sarcoma Unclassified Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed unclassified pleomorphic sarcoma NCIT:C4247 NCIT -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic soft tissue sarcoma undifferentiated pleomorphic soft tissue sarcoma Undifferentiated Pleomorphic Soft Tissue Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic soft tissue sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MFH NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym UPS NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UPS NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -40042,8 +39143,6 @@ MONDO:0002149 reproductive system cancer oio:hasExactSynonym malignant reproduc MONDO:0002154 trichomoniasis oio:hasExactSynonym Trichomonas infection Trichomonas infection Trichomonas Infection NCIT:C35720 Trichomonas Infection confirmed Trichomonas infection NCIT:C35720 NCIT MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disease fallopian tube disease Fallopian Tube Disease NCIT:C26771 Fallopian Tube Disorder confirmed fallopian tube disease NCIT:C26771 NCIT MONDO:0002156 fallopian tube disorder oio:hasExactSynonym fallopian tube disorder fallopian tube disorder Fallopian Tube Disorder NCIT:C26771 Fallopian Tube Disorder confirmed fallopian tube disorder NCIT:C26771 NCIT -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym cancer of fallopian tube cancer of fallopian tube Cancer of Fallopian Tube NCIT:C3867 Fallopian Tube Carcinoma confirmed cancer of fallopian tube NCIT:C3867 NCIT -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube cancer fallopian tube cancer Fallopian Tube Cancer NCIT:C3867 Fallopian Tube Carcinoma confirmed fallopian tube cancer NCIT:C3867 NCIT MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant neoplasm fallopian tube malignant neoplasm Fallopian Tube Malignant Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm confirmed fallopian tube malignant neoplasm NCIT:C7480 NCIT MONDO:0002158 fallopian tube cancer oio:hasExactSynonym fallopian tube malignant tumor fallopian tube malignant tumor Fallopian Tube Malignant Tumor NCIT:C7480 Malignant Fallopian Tube Neoplasm confirmed fallopian tube malignant tumor NCIT:C7480 NCIT MONDO:0002158 fallopian tube cancer oio:hasExactSynonym malignant fallopian tube neoplasm malignant fallopian tube neoplasm Malignant Fallopian Tube Neoplasm NCIT:C7480 Malignant Fallopian Tube Neoplasm confirmed malignant fallopian tube neoplasm NCIT:C7480 NCIT @@ -40099,8 +39198,8 @@ MONDO:0002185 hyperostosis oio:hasExactSynonym bone hypertrophy bone hypertroph MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disease vulvar disease Vulvar Disease NCIT:C27631 Vulvar Disorder confirmed vulvar disease NCIT:C27631 NCIT MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disorder vulvar disorder Vulvar Disorder NCIT:C27631 Vulvar Disorder confirmed vulvar disorder NCIT:C27631 NCIT MONDO:0002188 vulvar nodular hidradenoma oio:hasExactSynonym vulvar nodular hidradenoma vulvar nodular hidradenoma Vulvar Nodular Hidradenoma NCIT:C40312 Vulvar Nodular Hidradenoma confirmed vulvar nodular hidradenoma NCIT:C40312 NCIT -MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular Hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT +MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT MONDO:0002190 vulvar syringoma oio:hasExactSynonym vulvar syringoma vulvar syringoma Vulvar Syringoma NCIT:C40311 Vulvar Syringoma confirmed vulvar syringoma NCIT:C40311 NCIT MONDO:0002191 syringoma oio:hasExactSynonym eccrine syringoma eccrine syringoma Eccrine Syringoma NCIT:C3761 Syringoma confirmed eccrine syringoma NCIT:C3761 NCIT MONDO:0002191 syringoma oio:hasExactSynonym syringoma syringoma Syringoma NCIT:C3761 Syringoma confirmed syringoma NCIT:C3761 NCIT @@ -40117,8 +39216,8 @@ MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumo MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of skin (chondroid syringoma) benign mixed tumor of skin (chondroid syringoma) Benign Mixed Tumor of Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin confirmed benign mixed tumor of skin (chondroid syringoma) NCIT:C4474 NCIT MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin benign mixed tumor of the skin Benign Mixed Tumor of the Skin NCIT:C4474 Benign Mixed Tumor of the Skin confirmed benign mixed tumor of the skin NCIT:C4474 NCIT MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym benign mixed tumor of the skin (chondroid syringoma) benign mixed tumor of the skin (chondroid syringoma) Benign Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin confirmed benign mixed tumor of the skin (chondroid syringoma) NCIT:C4474 NCIT -MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin confirmed chondroid syringoma NCIT:C4474 NCIT MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid syringoma NCIT:C4474 Benign Mixed Tumor of the Skin confirmed chondroid syringoma NCIT:C4474 NCIT +MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym chondroid syringoma chondroid syringoma Chondroid Syringoma NCIT:C4474 Benign Mixed Tumor of the Skin confirmed chondroid syringoma NCIT:C4474 NCIT MONDO:0002200 eccrine mixed tumor of skin oio:hasExactSynonym mixed tumor of the skin (chondroid syringoma) mixed tumor of the skin (chondroid syringoma) Mixed Tumor of the Skin (Chondroid Syringoma) NCIT:C4474 Benign Mixed Tumor of the Skin confirmed mixed tumor of the skin (chondroid syringoma) NCIT:C4474 NCIT MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoblastoma vulvar trichoblastoma Vulvar Trichoblastoma NCIT:C40314 Vulvar Trichoblastoma confirmed vulvar trichoblastoma NCIT:C40314 NCIT MONDO:0002201 vulvar trichoepithelioma oio:hasExactSynonym vulvar trichoepithelioma vulvar trichoepithelioma Vulvar Trichoepithelioma NCIT:C40314 Vulvar Trichoblastoma confirmed vulvar trichoepithelioma NCIT:C40314 NCIT @@ -40194,8 +39293,8 @@ MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of eye malignan MONDO:0002236 ocular cancer oio:hasExactSynonym malignant tumor of the eye malignant tumor of the eye Malignant Tumor of the Eye NCIT:C4767 Malignant Eye Neoplasm confirmed malignant tumor of the eye NCIT:C4767 NCIT MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency coagulation factor deficiency Coagulation Factor Deficiency NCIT:C27215 Coagulation Factor Deficiency confirmed coagulation factor deficiency NCIT:C27215 NCIT MONDO:0002242 coagulation protein disease oio:hasExactSynonym coagulation factor deficiency syndrome coagulation factor deficiency syndrome Coagulation Factor Deficiency Syndrome NCIT:C27215 Coagulation Factor Deficiency confirmed coagulation factor deficiency syndrome NCIT:C27215 NCIT -MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis confirmed bleeding diathesis NCIT:C115221 NCIT MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding diathesis NCIT:C115221 Bleeding Diathesis confirmed bleeding diathesis NCIT:C115221 NCIT +MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding diathesis bleeding diathesis Bleeding Diathesis NCIT:C115221 Bleeding Diathesis confirmed bleeding diathesis NCIT:C115221 NCIT MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding disorder bleeding disorder Bleeding Disorder NCIT:C115221 Bleeding Diathesis confirmed bleeding disorder NCIT:C115221 NCIT MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding predisposition bleeding predisposition Bleeding Predisposition NCIT:C115221 Bleeding Diathesis confirmed bleeding predisposition NCIT:C115221 NCIT MONDO:0002243 hemorrhagic disease oio:hasExactSynonym bleeding tendency bleeding tendency Bleeding Tendency NCIT:C115221 Bleeding Diathesis confirmed bleeding tendency NCIT:C115221 NCIT @@ -40349,10 +39448,6 @@ MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of glottis MONDO:0002351 glottis cancer oio:hasExactSynonym malignant neoplasm of the glottis malignant neoplasm of the glottis Malignant Neoplasm of the Glottis NCIT:C3544 Malignant Glottis Neoplasm confirmed malignant neoplasm of the glottis NCIT:C3544 NCIT MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of glottis malignant tumor of glottis Malignant Tumor of Glottis NCIT:C3544 Malignant Glottis Neoplasm confirmed malignant tumor of glottis NCIT:C3544 NCIT MONDO:0002351 glottis cancer oio:hasExactSynonym malignant tumor of the glottis malignant tumor of the glottis Malignant Tumor of the Glottis NCIT:C3544 Malignant Glottis Neoplasm confirmed malignant tumor of the glottis NCIT:C3544 NCIT -MONDO:0002351 glottis cancer oio:hasExactSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma confirmed cancer of glottis NCIT:C4923 NCIT -MONDO:0002351 glottis cancer oio:hasExactSynonym glottis cancer glottis cancer Glottis Cancer NCIT:C4923 Glottis Carcinoma confirmed glottis cancer NCIT:C4923 NCIT -MONDO:0002352 larynx cancer oio:hasExactSynonym cancer of larynx cancer of larynx Cancer of Larynx NCIT:C4855 Laryngeal Carcinoma confirmed cancer of larynx NCIT:C4855 NCIT -MONDO:0002352 larynx cancer oio:hasExactSynonym larynx cancer larynx cancer Larynx Cancer NCIT:C4855 Laryngeal Carcinoma confirmed larynx cancer NCIT:C4855 NCIT MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal neoplasm malignant laryngeal neoplasm Malignant Laryngeal Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm confirmed malignant laryngeal neoplasm NCIT:C7484 NCIT MONDO:0002352 larynx cancer oio:hasExactSynonym malignant laryngeal tumor malignant laryngeal tumor Malignant Laryngeal Tumor NCIT:C7484 Malignant Laryngeal Neoplasm confirmed malignant laryngeal tumor NCIT:C7484 NCIT MONDO:0002352 larynx cancer oio:hasExactSynonym malignant larynx neoplasm malignant larynx neoplasm Malignant Larynx Neoplasm NCIT:C7484 Malignant Laryngeal Neoplasm confirmed malignant larynx neoplasm NCIT:C7484 NCIT @@ -40414,12 +39509,10 @@ MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal neoplasm malign MONDO:0002367 kidney cancer oio:hasExactSynonym malignant renal tumor malignant renal tumor Malignant Renal Tumor NCIT:C7548 Malignant Kidney Neoplasm confirmed malignant renal tumor NCIT:C7548 NCIT MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of kidney malignant tumor of kidney Malignant Tumor of Kidney NCIT:C7548 Malignant Kidney Neoplasm confirmed malignant tumor of kidney NCIT:C7548 NCIT MONDO:0002367 kidney cancer oio:hasExactSynonym malignant tumor of the kidney malignant tumor of the kidney Malignant Tumor of the Kidney NCIT:C7548 Malignant Kidney Neoplasm confirmed malignant tumor of the kidney NCIT:C7548 NCIT -MONDO:0002367 kidney cancer oio:hasExactSynonym kidney cancer kidney cancer Kidney Cancer NCIT:C9384 Kidney Carcinoma confirmed kidney cancer NCIT:C9384 NCIT -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous adenocarcinoma NCIT:C8377 NCIT MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary serous adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous adenocarcinoma NCIT:C8377 NCIT -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous cystadenocarcinoma NCIT:C8377 NCIT +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous adenocarcinoma papillary serous adenocarcinoma Papillary Serous Adenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous adenocarcinoma NCIT:C8377 NCIT MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary Serous Cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous cystadenocarcinoma NCIT:C8377 NCIT -MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma confirmed cystoma NCIT:C2964 NCIT +MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym papillary serous cystadenocarcinoma papillary serous cystadenocarcinoma Papillary serous cystadenocarcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma confirmed papillary serous cystadenocarcinoma NCIT:C8377 NCIT MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma confirmed cystadenoma NCIT:C2972 NCIT MONDO:0002369 cystadenoma oio:hasExactSynonym cystadenoma, benign cystadenoma, benign CYSTADENOMA, BENIGN NCIT:C2972 Cystadenoma confirmed cystadenoma, benign NCIT:C2972 NCIT MONDO:0002369 cystadenoma oio:hasExactSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma confirmed cystoma NCIT:C2972 NCIT @@ -40431,8 +39524,8 @@ MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner neoplas MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym ovarian Brenner tumor ovarian Brenner tumor Ovarian Brenner Tumor NCIT:C3872 Ovarian Brenner Tumor confirmed ovarian Brenner tumor NCIT:C3872 NCIT MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym breast pericanalicular fibroadenoma breast pericanalicular fibroadenoma Breast Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed breast pericanalicular fibroadenoma NCIT:C4272 NCIT MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular breast fibroadenoma pericanalicular breast fibroadenoma Pericanalicular Breast Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular breast fibroadenoma NCIT:C4272 NCIT -MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular fibroadenoma NCIT:C4272 NCIT MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular Fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular fibroadenoma NCIT:C4272 NCIT +MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma pericanalicular fibroadenoma Pericanalicular fibroadenoma NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular fibroadenoma NCIT:C4272 NCIT MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of breast pericanalicular fibroadenoma of breast Pericanalicular Fibroadenoma of Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular fibroadenoma of breast NCIT:C4272 NCIT MONDO:0002371 breast pericanalicular fibroadenoma oio:hasExactSynonym pericanalicular fibroadenoma of the breast pericanalicular fibroadenoma of the breast Pericanalicular Fibroadenoma of the Breast NCIT:C4272 Breast Pericanalicular Fibroadenoma confirmed pericanalicular fibroadenoma of the breast NCIT:C4272 NCIT MONDO:0002372 ovarian monodermal and highly specialized teratoma oio:hasExactSynonym ovarian germ cell monodermal and highly specialized teratoma ovarian germ cell monodermal and highly specialized teratoma Ovarian Germ Cell Monodermal and Highly Specialized Teratoma NCIT:C8113 Ovarian Monodermal and Highly Specialized Teratoma confirmed ovarian germ cell monodermal and highly specialized teratoma NCIT:C8113 NCIT @@ -40540,8 +39633,8 @@ MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of skin inflammation MONDO:0002406 dermatitis oio:hasExactSynonym inflammation of the skin inflammation of the skin Inflammation of the Skin NCIT:C2983 Dermatitis confirmed inflammation of the skin NCIT:C2983 NCIT MONDO:0002406 dermatitis oio:hasExactSynonym skin inflammation skin inflammation Skin Inflammation NCIT:C2983 Dermatitis confirmed skin inflammation NCIT:C2983 NCIT MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary angioma capillary angioma Capillary Angioma NCIT:C7457 Capillary Hemangioma confirmed capillary angioma NCIT:C7457 NCIT -MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma confirmed capillary hemangioma NCIT:C7457 NCIT MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary hemangioma NCIT:C7457 Capillary Hemangioma confirmed capillary hemangioma NCIT:C7457 NCIT +MONDO:0002407 capillary hemangioma oio:hasExactSynonym capillary hemangioma capillary hemangioma Capillary Hemangioma NCIT:C7457 Capillary Hemangioma confirmed capillary hemangioma NCIT:C7457 NCIT MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym hereditary hyperbilirubinemia hereditary hyperbilirubinemia Hereditary Hyperbilirubinemia NCIT:C84761 Hereditary Hyperbilirubinemia confirmed hereditary hyperbilirubinemia NCIT:C84761 NCIT MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen Storage Disease NCIT:C61272 Glycogen Storage Disease confirmed glycogen storage disease NCIT:C61272 NCIT MONDO:0002413 glycogen storage disease I oio:hasExactSynonym Glycogen Storage Disease Type I NCIT:C84733 Glycogen Storage Disease Type I confirmed Glycogen Storage Disease Type I NCIT:C84733 NCIT @@ -40568,10 +39661,10 @@ MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym adenocarcinoma o MONDO:0002419 transient tic disorder oio:hasExactSynonym benign Tic disorder of childhood benign Tic disorder of childhood Benign Tic Disorder of Childhood NCIT:C116767 Transient Tic Disorder confirmed benign Tic disorder of childhood NCIT:C116767 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym Extragnathic adamantinoma Extragnathic adamantinoma Extragnathic Adamantinoma NCIT:C7644 Adamantinoma confirmed Extragnathic adamantinoma NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma confirmed adamantinoma NCIT:C7644 NCIT -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of long bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma confirmed adamantinoma, malignant NCIT:C7644 NCIT +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant ADAMANTINOMA, MALIGNANT NCIT:C7644 Adamantinoma confirmed adamantinoma, malignant NCIT:C7644 NCIT +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma confirmed adamantinoma, malignant NCIT:C7644 NCIT MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of rectosigmoid junction neoplasm of rectosigmoid junction Neoplasm of Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm confirmed neoplasm of rectosigmoid junction NCIT:C4877 NCIT MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of the rectosigmoid junction neoplasm of the rectosigmoid junction Neoplasm of the Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm confirmed neoplasm of the rectosigmoid junction NCIT:C4877 NCIT MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym rectosigmoid neoplasm rectosigmoid neoplasm Rectosigmoid Neoplasm NCIT:C4877 Rectosigmoid Neoplasm confirmed rectosigmoid neoplasm NCIT:C4877 NCIT @@ -40674,8 +39767,8 @@ MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of lacrimal syst MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of the lacrimal system tumor of the lacrimal system Tumor of the Lacrimal System NCIT:C5102 Lacrimal System Neoplasm confirmed tumor of the lacrimal system NCIT:C5102 NCIT MONDO:0002461 membranoproliferative glomerulonephritis oio:hasExactSynonym membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis Membranoproliferative Glomerulonephritis NCIT:C34644 Membranoproliferative Glomerulonephritis confirmed membranoproliferative glomerulonephritis NCIT:C34644 NCIT MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerular nephritis glomerular nephritis Glomerular Nephritis NCIT:C26784 Glomerulonephritis confirmed glomerular nephritis NCIT:C26784 NCIT -MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis Glomerulonephritis NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT +MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of lacrimal gland carcinoma of lacrimal gland Carcinoma of Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma confirmed carcinoma of lacrimal gland NCIT:C6129 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of the lacrimal gland carcinoma of the lacrimal gland Carcinoma of the Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma confirmed carcinoma of the lacrimal gland NCIT:C6129 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym lacrimal gland carcinoma lacrimal gland carcinoma Lacrimal Gland Carcinoma NCIT:C6129 Lacrimal Gland Carcinoma confirmed lacrimal gland carcinoma NCIT:C6129 NCIT @@ -40757,14 +39850,13 @@ MONDO:0002492 acute kidney failure oio:hasExactSynonym acute kidney injury acut MONDO:0002492 acute kidney failure oio:hasExactSynonym acute renal failure acute renal failure Acute Renal Failure NCIT:C26808 Acute Renal Failure confirmed acute renal failure NCIT:C26808 NCIT MONDO:0002492 acute kidney failure oio:hasExactSynonym AKI NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AKI NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002492 acute kidney failure oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of prostate acinar adenocarcinoma of prostate Acinar Adenocarcinoma of Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma confirmed acinar adenocarcinoma of prostate NCIT:C5596 NCIT MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar adenocarcinoma of the prostate acinar adenocarcinoma of the prostate Acinar Adenocarcinoma of the Prostate NCIT:C5596 Prostate Acinar Adenocarcinoma confirmed acinar adenocarcinoma of the prostate NCIT:C5596 NCIT MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym acinar prostate adenocarcinoma acinar prostate adenocarcinoma Acinar Prostate Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma confirmed acinar prostate adenocarcinoma NCIT:C5596 NCIT MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostate acinar adenocarcinoma prostate acinar adenocarcinoma Prostate Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma confirmed prostate acinar adenocarcinoma NCIT:C5596 NCIT MONDO:0002493 prostatic acinar adenocarcinoma oio:hasExactSynonym prostatic acinar adenocarcinoma prostatic acinar adenocarcinoma Prostatic Acinar Adenocarcinoma NCIT:C5596 Prostate Acinar Adenocarcinoma confirmed prostatic acinar adenocarcinoma NCIT:C5596 NCIT -MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder confirmed substance-related disorder NCIT:C92203 NCIT MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-Related Disorder NCIT:C92203 Substance-Related Disorder confirmed substance-related disorder NCIT:C92203 NCIT +MONDO:0002494 substance-related disorder oio:hasExactSynonym substance-related disorder substance-related disorder Substance-related disorder NCIT:C92203 Substance-Related Disorder confirmed substance-related disorder NCIT:C92203 NCIT MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colon signet Ring cell adenocarcinoma colon signet Ring cell adenocarcinoma Colon Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma confirmed colon signet Ring cell adenocarcinoma NCIT:C7967 NCIT MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym colonic signet Ring cell adenocarcinoma colonic signet Ring cell adenocarcinoma Colonic Signet Ring Cell Adenocarcinoma NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma confirmed colonic signet Ring cell adenocarcinoma NCIT:C7967 NCIT MONDO:0002495 colon signet ring cell adenocarcinoma oio:hasExactSynonym signet Ring cell adenocarcinoma of colon signet Ring cell adenocarcinoma of colon Signet Ring Cell Adenocarcinoma of Colon NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma confirmed signet Ring cell adenocarcinoma of colon NCIT:C7967 NCIT @@ -40787,7 +39879,6 @@ MONDO:0002508 gingivitis oio:hasExactSynonym gingivitis gingivitis Gingivitis N MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym adenocarcinoma, papillary, malignant adenocarcinoma, papillary, malignant ADENOCARCINOMA, PAPILLARY, MALIGNANT NCIT:C2853 Papillary Adenocarcinoma confirmed adenocarcinoma, papillary, malignant NCIT:C2853 NCIT MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma confirmed papillary adenocarcinoma NCIT:C2853 NCIT MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary Adenocarcinoma NCIT:C2853 Papillary Adenocarcinoma confirmed papillary adenocarcinoma NCIT:C2853 NCIT -MONDO:0002512 papillary adenocarcinoma oio:hasExactSynonym papillary adenocarcinoma papillary adenocarcinoma Papillary adenocarcinoma NCIT:C5472 Gastric Papillary Adenocarcinoma confirmed papillary adenocarcinoma NCIT:C5472 NCIT MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney neoplasm benign kidney neoplasm Benign Kidney Neoplasm NCIT:C4778 Benign Kidney Neoplasm confirmed benign kidney neoplasm NCIT:C4778 NCIT MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign kidney tumor benign kidney tumor Benign Kidney Tumor NCIT:C4778 Benign Kidney Neoplasm confirmed benign kidney tumor NCIT:C4778 NCIT MONDO:0002513 kidney benign neoplasm oio:hasExactSynonym benign neoplasm of kidney benign neoplasm of kidney Benign Neoplasm of Kidney NCIT:C4778 Benign Kidney Neoplasm confirmed benign neoplasm of kidney NCIT:C4778 NCIT @@ -40832,8 +39923,8 @@ MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym giant cell tumo MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell neoplasm tendon sheath giant cell neoplasm Tendon Sheath Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tendon sheath giant cell neoplasm NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell tumor tendon sheath giant cell tumor Tendon Sheath Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tendon sheath giant cell tumor NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell neoplasm tenosynovial giant cell neoplasm Tenosynovial Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell neoplasm NCIT:C3402 NCIT -MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT +MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of synovium neoplasm of synovium Neoplasm of Synovium NCIT:C8964 Synovial Neoplasm confirmed neoplasm of synovium NCIT:C8964 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of the synovium neoplasm of the synovium Neoplasm of the Synovium NCIT:C8964 Synovial Neoplasm confirmed neoplasm of the synovium NCIT:C8964 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym synovial neoplasm synovial neoplasm Synovial Neoplasm NCIT:C8964 Synovial Neoplasm confirmed synovial neoplasm NCIT:C8964 NCIT @@ -40891,8 +39982,8 @@ MONDO:0002546 schwannoma oio:hasExactSynonym benign schwannoma benign schwannom MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma neurilemmoma Neurilemmoma NCIT:C3269 Schwannoma confirmed neurilemmoma NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma confirmed neurinoma NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma schwannoma Schwannoma NCIT:C3269 Schwannoma confirmed schwannoma NCIT:C3269 NCIT -MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (WHO Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT +MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma, benign schwannoma, benign SCHWANNOMA, BENIGN NCIT:C3269 Schwannoma confirmed schwannoma, benign NCIT:C3269 NCIT MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of nerve sheath neoplasm of nerve sheath Neoplasm of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed neoplasm of nerve sheath NCIT:C4972 NCIT MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath Neoplasm of the Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed neoplasm of the nerve sheath NCIT:C4972 NCIT @@ -40901,8 +39992,8 @@ MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumor nerv MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym tumor of nerve sheath tumor of nerve sheath Tumor of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed tumor of nerve sheath NCIT:C4972 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurilemmoma cellular neurilemmoma Cellular Neurilemmoma NCIT:C4724 Cellular Schwannoma confirmed cellular neurilemmoma NCIT:C4724 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurinoma cellular neurinoma Cellular Neurinoma NCIT:C4724 Cellular Schwannoma confirmed cellular neurinoma NCIT:C4724 NCIT -MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT +MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve neurilemmoma hypoglossal nerve neurilemmoma Hypoglossal Nerve Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal nerve neurilemmoma NCIT:C5434 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve schwannoma hypoglossal nerve schwannoma Hypoglossal Nerve Schwannoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal nerve schwannoma NCIT:C5434 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal neurilemmoma hypoglossal neurilemmoma Hypoglossal Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal neurilemmoma NCIT:C5434 NCIT @@ -40973,8 +40064,8 @@ MONDO:0002556 microcystic/reticular schwannoma oio:hasExactSynonym microcystic/ MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic neurilemmoma melanocytic neurilemmoma Melanocytic Neurilemmoma NCIT:C6970 Melanotic Schwannoma confirmed melanocytic neurilemmoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic schwannoma melanocytic schwannoma Melanocytic Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanocytic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic neurinoma melanotic neurinoma Melanotic Neurinoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic neurinoma NCIT:C6970 NCIT -MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT +MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented neurilemmoma pigmented neurilemmoma Pigmented Neurilemmoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented neurilemmoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented schwannoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented schwannoma NCIT:C6970 NCIT @@ -41015,9 +40106,8 @@ MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma oio:hasExactSyno MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma Extrahepatic Bile Duct Rhabdomyosarcoma NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed extrahepatic bile duct rhabdomyosarcoma NCIT:C5860 NCIT MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of extrahepatic bile duct rhabdomyosarcoma of extrahepatic bile duct Rhabdomyosarcoma of Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed rhabdomyosarcoma of extrahepatic bile duct NCIT:C5860 NCIT MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of the extrahepatic bile duct rhabdomyosarcoma of the extrahepatic bile duct Rhabdomyosarcoma of the Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed rhabdomyosarcoma of the extrahepatic bile duct NCIT:C5860 NCIT -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 NCIT -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT +MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma Botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed sarcoma botryoides NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed sarcoma botryoides NCIT:C9150 NCIT @@ -41059,11 +40149,10 @@ MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym malignant thymoma, MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym thymoma malignant invasive thymoma malignant invasive Thymoma Malignant Invasive NCIT:C7904 Invasive Malignant Thymoma confirmed thymoma malignant invasive NCIT:C7904 NCIT MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal neoplasm notochordal neoplasm Notochordal Neoplasm NCIT:C7063 Notochordal Tumor confirmed notochordal neoplasm NCIT:C7063 NCIT MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal tumor notochordal tumor Notochordal Tumor NCIT:C7063 Notochordal Tumor confirmed notochordal tumor NCIT:C7063 NCIT -MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed embryonal carcinoma and teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT +MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT MONDO:0002599 teratocarcinoma oio:hasExactSynonym teratocarcinoma teratocarcinoma Teratocarcinoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed teratocarcinoma NCIT:C3756 NCIT MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma confirmed teratoma NCIT:C3403 NCIT -MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma confirmed teratoma NCIT:C9013 NCIT MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disease central nervous system disease Central Nervous System Disease NCIT:C2934 Central Nervous System Disorder confirmed central nervous system disease NCIT:C2934 NCIT MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disorder central nervous system disorder Central Nervous System Disorder NCIT:C2934 Central Nervous System Disorder confirmed central nervous system disorder NCIT:C2934 NCIT MONDO:0002602 central nervous system disorder oio:hasExactSynonym disorder of central nervous system disorder of central nervous system Disorder of Central Nervous System NCIT:C2934 Central Nervous System Disorder confirmed disorder of central nervous system NCIT:C2934 NCIT @@ -41098,7 +40187,6 @@ MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym fibrosarcoma of the bone fi MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteogenic sarcoma localized osteogenic sarcoma Localized Osteogenic Sarcoma NCIT:C7780 Localized Osteosarcoma confirmed localized osteogenic sarcoma NCIT:C7780 NCIT MONDO:0002620 localized osteosarcoma oio:hasExactSynonym localized osteosarcoma localized osteosarcoma Localized Osteosarcoma NCIT:C7780 Localized Osteosarcoma confirmed localized osteosarcoma NCIT:C7780 NCIT MONDO:0002620 localized osteosarcoma oio:hasExactSynonym osteosarcoma, localized osteosarcoma, localized Osteosarcoma, Localized NCIT:C7780 Localized Osteosarcoma confirmed osteosarcoma, localized NCIT:C7780 NCIT -MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma confirmed extraskeletal osteosarcoma NCIT:C7925 NCIT MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraosseous osteosarcoma extraosseous osteosarcoma Extraosseous Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma confirmed extraosseous osteosarcoma NCIT:C8810 NCIT MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteogenic sarcoma extraskeletal osteogenic sarcoma Extraskeletal Osteogenic Sarcoma NCIT:C8810 Extraskeletal Osteosarcoma confirmed extraskeletal osteogenic sarcoma NCIT:C8810 NCIT MONDO:0002621 extraosseous osteosarcoma oio:hasExactSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma confirmed extraskeletal osteosarcoma NCIT:C8810 NCIT @@ -41139,8 +40227,8 @@ MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of spin MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the eleventh cranial nerve tumor of the eleventh cranial nerve Tumor of the Eleventh Cranial Nerve NCIT:C5829 Accessory Nerve Neoplasm confirmed tumor of the eleventh cranial nerve NCIT:C5829 NCIT MONDO:0002626 spinal accessory nerve neoplasm oio:hasExactSynonym tumor of the spinal accessory nerve tumor of the spinal accessory nerve Tumor of the Spinal Accessory Nerve NCIT:C5829 Accessory Nerve Neoplasm confirmed tumor of the spinal accessory nerve NCIT:C5829 NCIT MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteogenic sarcoma chondroblastic osteogenic sarcoma Chondroblastic Osteogenic Sarcoma NCIT:C4021 Chondroblastic Osteosarcoma confirmed chondroblastic osteogenic sarcoma NCIT:C4021 NCIT -MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma confirmed chondroblastic osteosarcoma NCIT:C4021 NCIT MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma confirmed chondroblastic osteosarcoma NCIT:C4021 NCIT +MONDO:0002627 chondroblastic osteosarcoma oio:hasExactSynonym chondroblastic osteosarcoma chondroblastic osteosarcoma Chondroblastic Osteosarcoma NCIT:C4021 Chondroblastic Osteosarcoma confirmed chondroblastic osteosarcoma NCIT:C4021 NCIT MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym bone surface (peripheral) osteosarcoma bone surface (peripheral) osteosarcoma Bone Surface (Peripheral) Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma confirmed bone surface (peripheral) osteosarcoma NCIT:C7134 NCIT MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym peripheral osteosarcoma peripheral osteosarcoma Peripheral Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma confirmed peripheral osteosarcoma NCIT:C7134 NCIT MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym surface osteosarcoma surface osteosarcoma Surface Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma confirmed surface osteosarcoma NCIT:C7134 NCIT @@ -41148,14 +40236,14 @@ MONDO:0002629 bone osteosarcoma oio:hasExactSynonym bone osteosarcoma bone oste MONDO:0002629 bone osteosarcoma oio:hasExactSynonym osteosarcoma of bone osteosarcoma of bone Osteosarcoma of Bone NCIT:C53707 Bone Osteosarcoma confirmed osteosarcoma of bone NCIT:C53707 NCIT MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small Cell Osteosarcoma NCIT:C4023 Small Cell Osteosarcoma confirmed small cell osteosarcoma NCIT:C4023 NCIT MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small cell osteosarcoma NCIT:C4023 Small Cell Osteosarcoma confirmed small cell osteosarcoma NCIT:C4023 NCIT -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed central osteosarcoma NCIT:C35870 NCIT +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional central osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional osteosarcoma conventional osteosarcoma Conventional Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteogenic sarcoma intracortical osteogenic sarcoma Intracortical Osteogenic Sarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteogenic sarcoma NCIT:C35870 NCIT -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed medullary osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed medullary osteosarcoma NCIT:C35870 NCIT MONDO:0002632 metachronous osteosarcoma of the bone oio:hasExactSynonym metachronous osteosarcoma metachronous osteosarcoma Metachronous Osteosarcoma NCIT:C38157 Metachronous Osteosarcoma confirmed metachronous osteosarcoma NCIT:C38157 NCIT @@ -41241,7 +40329,6 @@ MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of brea MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget's disease of the breast Paget's disease of the breast Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease confirmed Paget's disease of the breast NCIT:C47857 NCIT MONDO:0002648 mammary Paget disease oio:hasExactSynonym breast Paget disease breast Paget disease Breast Paget Disease NCIT:C47857 Breast Paget Disease confirmed breast Paget disease NCIT:C47857 NCIT MONDO:0002648 mammary Paget disease oio:hasExactSynonym mammary Paget's disease mammary Paget's disease Mammary Paget's Disease NCIT:C47857 Breast Paget Disease confirmed mammary Paget's disease NCIT:C47857 NCIT -MONDO:0002648 mammary Paget disease oio:hasExactSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease confirmed Paget cell neoplasm NCIT:C7073 NCIT MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget disease of the scrotum Paget disease of the scrotum Paget Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease confirmed Paget disease of the scrotum NCIT:C7728 NCIT MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of scrotum Paget's disease of scrotum Paget's Disease of Scrotum NCIT:C7728 Scrotal Paget Disease confirmed Paget's disease of scrotum NCIT:C7728 NCIT MONDO:0002649 scrotum Paget disease oio:hasExactSynonym Paget's disease of the scrotum Paget's disease of the scrotum Paget's Disease of the Scrotum NCIT:C7728 Scrotal Paget Disease confirmed Paget's disease of the scrotum NCIT:C7728 NCIT @@ -41265,8 +40352,8 @@ MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of skin carcinoma of MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of the skin carcinoma of the skin Carcinoma of the Skin NCIT:C4914 Skin Carcinoma confirmed carcinoma of the skin NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of skin non-melanoma cancer of skin Non-Melanoma Cancer of Skin NCIT:C4914 Skin Carcinoma confirmed non-melanoma cancer of skin NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of the skin non-melanoma cancer of the skin Non-Melanoma Cancer of the Skin NCIT:C4914 Skin Carcinoma confirmed non-melanoma cancer of the skin NCIT:C4914 NCIT -MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT +MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym skin cancer, non-melanoma skin cancer, non-melanoma Skin Cancer, Non-Melanoma NCIT:C4914 Skin Carcinoma confirmed skin cancer, non-melanoma NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym skin carcinoma skin carcinoma Skin Carcinoma NCIT:C4914 Skin Carcinoma confirmed skin carcinoma NCIT:C4914 NCIT MONDO:0002657 breast disorder oio:hasExactSynonym breast disease breast disease Breast Disease NCIT:C26709 Breast Disorder confirmed breast disease NCIT:C26709 NCIT @@ -41332,7 +40419,6 @@ MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym classical fibrosarc MONDO:0002677 conventional fibrosarcoma oio:hasExactSynonym conventional fibrosarcoma conventional fibrosarcoma Conventional Fibrosarcoma NCIT:C9429 Conventional Fibrosarcoma confirmed conventional fibrosarcoma NCIT:C9429 NCIT MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym childhood fibrosarcoma childhood fibrosarcoma Childhood Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma confirmed childhood fibrosarcoma NCIT:C8088 NCIT MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym pediatric fibrosarcoma pediatric fibrosarcoma Pediatric Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma confirmed pediatric fibrosarcoma NCIT:C8088 NCIT -MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke confirmed cerebral infarction NCIT:C3390 NCIT MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction confirmed cerebral infarction NCIT:C50486 NCIT MONDO:0002679 cerebral infarction oio:hasExactSynonym cerebral ischemia cerebral ischemia Cerebral Ischemia NCIT:C50486 Cerebral Infarction confirmed cerebral ischemia NCIT:C50486 NCIT MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant choroid plexus neoplasm malignant choroid plexus neoplasm Malignant Choroid Plexus Neoplasm NCIT:C4533 Malignant Choroid Plexus Neoplasm confirmed malignant choroid plexus neoplasm NCIT:C4533 NCIT @@ -41343,8 +40429,6 @@ MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of c MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm confirmed malignant neoplasm of the choroid plexus NCIT:C4533 NCIT MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm confirmed malignant tumor of choroid plexus NCIT:C4533 NCIT MONDO:0002681 choroid plexus cancer oio:hasExactSynonym malignant tumor of the choroid plexus malignant tumor of the choroid plexus Malignant Tumor of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm confirmed malignant tumor of the choroid plexus NCIT:C4533 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma confirmed cancer of choroid plexus NCIT:C4715 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma confirmed choroid plexus cancer NCIT:C4715 NCIT MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym brain neoplasms, intraventricular brain neoplasms, intraventricular Brain Neoplasms, Intraventricular NCIT:C2937 Intraventricular Brain Neoplasm confirmed brain neoplasms, intraventricular NCIT:C2937 NCIT MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasm intraventricular brain neoplasm Intraventricular Brain Neoplasm NCIT:C2937 Intraventricular Brain Neoplasm confirmed intraventricular brain neoplasm NCIT:C2937 NCIT MONDO:0002682 cerebral ventricle cancer oio:hasExactSynonym intraventricular brain neoplasms intraventricular brain neoplasms Intraventricular Brain Neoplasms NCIT:C2937 Intraventricular Brain Neoplasm confirmed intraventricular brain neoplasms NCIT:C2937 NCIT @@ -41366,8 +40450,6 @@ MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym childhood MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym superior mesenteric artery syndrome superior mesenteric artery syndrome Superior Mesenteric Artery Syndrome NCIT:C85175 Superior Mesenteric Artery Syndrome confirmed superior mesenteric artery syndrome NCIT:C85175 NCIT MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant liver neoplasm primary malignant liver neoplasm Primary Malignant Liver Neoplasm NCIT:C34803 Primary Malignant Liver Neoplasm confirmed primary malignant liver neoplasm NCIT:C34803 NCIT MONDO:0002691 liver cancer oio:hasExactSynonym primary malignant neoplasm of liver primary malignant neoplasm of liver Primary Malignant Neoplasm of Liver NCIT:C34803 Primary Malignant Liver Neoplasm confirmed primary malignant neoplasm of liver NCIT:C34803 NCIT -MONDO:0002691 liver cancer oio:hasExactSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma confirmed cancer of liver NCIT:C7927 NCIT -MONDO:0002691 liver cancer oio:hasExactSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma confirmed liver cancer NCIT:C7927 NCIT MONDO:0002696 Sertoli cell tumor oio:hasExactSynonym Sertoli cell tumor Sertoli cell tumor Sertoli Cell Tumor NCIT:C39976 Sertoli Cell Tumor confirmed Sertoli cell tumor NCIT:C39976 NCIT MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym ovarian gonadoblastoma ovarian gonadoblastoma Ovarian Gonadoblastoma NCIT:C39985 Ovarian Gonadoblastoma confirmed ovarian gonadoblastoma NCIT:C39985 NCIT MONDO:0002698 testicular gonadoblastoma oio:hasExactSynonym testicular gonadoblastoma testicular gonadoblastoma Testicular Gonadoblastoma NCIT:C39911 Testicular Gonadoblastoma confirmed testicular gonadoblastoma NCIT:C39911 NCIT @@ -41474,7 +40556,6 @@ MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of C MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of central nervous system teratoma of central nervous system Teratoma of Central Nervous System NCIT:C5441 Central Nervous System Teratoma confirmed teratoma of central nervous system NCIT:C5441 NCIT MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the CNS teratoma of the CNS Teratoma of the CNS NCIT:C5441 Central Nervous System Teratoma confirmed teratoma of the CNS NCIT:C5441 NCIT MONDO:0002718 central nervous system teratoma oio:hasExactSynonym teratoma of the central nervous system teratoma of the central nervous system Teratoma of the Central Nervous System NCIT:C5441 Central Nervous System Teratoma confirmed teratoma of the central nervous system NCIT:C5441 NCIT -MONDO:0002718 central nervous system teratoma oio:hasExactSynonym central nervous system teratoma central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma confirmed central nervous system teratoma NCIT:C5794 NCIT MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris neoplasm conus medullaris neoplasm Conus Medullaris Neoplasm NCIT:C5443 Conus Medullaris Neoplasm confirmed conus medullaris neoplasm NCIT:C5443 NCIT MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym conus medullaris tumor conus medullaris tumor Conus Medullaris Tumor NCIT:C5443 Conus Medullaris Neoplasm confirmed conus medullaris tumor NCIT:C5443 NCIT MONDO:0002719 conus medullaris neoplasm oio:hasExactSynonym neoplasm of conus medullaris neoplasm of conus medullaris Neoplasm of Conus Medullaris NCIT:C5443 Conus Medullaris Neoplasm confirmed neoplasm of conus medullaris NCIT:C5443 NCIT @@ -41524,8 +40605,8 @@ MONDO:0002726 cutaneous solitary mastocytoma oio:hasExactSynonym solitary masto MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of 1st nerve disorder of 1st nerve Disorder of 1st Nerve NCIT:C27210 Olfactory Nerve Disorder confirmed disorder of 1st nerve NCIT:C27210 NCIT MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym disorder of the 1st nerve disorder of the 1st nerve Disorder of the 1st Nerve NCIT:C27210 Olfactory Nerve Disorder confirmed disorder of the 1st nerve NCIT:C27210 NCIT MONDO:0002727 olfactory nerve disorder oio:hasExactSynonym olfactory nerve disorder olfactory nerve disorder Olfactory Nerve Disorder NCIT:C27210 Olfactory Nerve Disorder confirmed olfactory nerve disorder NCIT:C27210 NCIT -MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor confirmed rhabdoid sarcoma NCIT:C3808 NCIT MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid sarcoma NCIT:C3808 Rhabdoid Tumor confirmed rhabdoid sarcoma NCIT:C3808 NCIT +MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid sarcoma rhabdoid sarcoma Rhabdoid Sarcoma NCIT:C3808 Rhabdoid Tumor confirmed rhabdoid sarcoma NCIT:C3808 NCIT MONDO:0002728 rhabdoid tumor oio:hasExactSynonym rhabdoid tumor rhabdoid tumor Rhabdoid Tumor NCIT:C3808 Rhabdoid Tumor confirmed rhabdoid tumor NCIT:C3808 NCIT MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym kidney rhabdoid tumor kidney rhabdoid tumor Kidney Rhabdoid Tumor NCIT:C8715 Rhabdoid Tumor of the Kidney confirmed kidney rhabdoid tumor NCIT:C8715 NCIT MONDO:0002729 rhabdoid tumor of the kidney oio:hasExactSynonym malignant rhabdoid tumor of kidney malignant rhabdoid tumor of kidney Malignant Rhabdoid Tumor of Kidney NCIT:C8715 Rhabdoid Tumor of the Kidney confirmed malignant rhabdoid tumor of kidney NCIT:C8715 NCIT @@ -41639,8 +40720,8 @@ MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of ovar MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of the ovary adenocarcinoma of the ovary Adenocarcinoma of the Ovary NCIT:C7700 Ovarian Adenocarcinoma confirmed adenocarcinoma of the ovary NCIT:C7700 NCIT MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym ovarian adenocarcinoma ovarian adenocarcinoma Ovarian Adenocarcinoma NCIT:C7700 Ovarian Adenocarcinoma confirmed ovarian adenocarcinoma NCIT:C7700 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma extramedullary plasmacytoma Extramedullary Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extramedullary plasmacytoma NCIT:C4002 NCIT -MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT +MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym plasmacytoma, extramedullary plasmacytoma, extramedullary Plasmacytoma, extramedullary NCIT:C4002 Extraosseous Plasmacytoma confirmed plasmacytoma, extramedullary NCIT:C4002 NCIT MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym solitary plasmacytoma of bone solitary plasmacytoma of bone Solitary Plasmacytoma of Bone NCIT:C7812 Solitary Plasmacytoma of Bone confirmed solitary plasmacytoma of bone NCIT:C7812 NCIT MONDO:0002756 solitary plasmacytoma of chest wall oio:hasExactSynonym chest wall solitary plasmacytoma chest wall solitary plasmacytoma Chest Wall Solitary Plasmacytoma NCIT:C6711 Chest Wall Solitary Plasmacytoma confirmed chest wall solitary plasmacytoma NCIT:C6711 NCIT @@ -41687,7 +40768,6 @@ MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym laryngeal verrucou MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym larynx verrucous carcinoma larynx verrucous carcinoma Larynx Verrucous Carcinoma NCIT:C8188 Laryngeal Verrucous Carcinoma confirmed larynx verrucous carcinoma NCIT:C8188 NCIT MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of larynx verrucous carcinoma of larynx Verrucous Carcinoma of Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma confirmed verrucous carcinoma of larynx NCIT:C8188 NCIT MONDO:0002766 larynx verrucous carcinoma oio:hasExactSynonym verrucous carcinoma of the larynx verrucous carcinoma of the larynx Verrucous Carcinoma of the Larynx NCIT:C8188 Laryngeal Verrucous Carcinoma confirmed verrucous carcinoma of the larynx NCIT:C8188 NCIT -MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development confirmed true hermaphroditism NCIT:C127167 NCIT MONDO:0002768 true hermaphroditism oio:hasExactSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism confirmed true hermaphroditism NCIT:C85207 NCIT MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary Interstitial Fibrosis NCIT:C26869 Pulmonary Fibrosis confirmed pulmonary interstitial fibrosis NCIT:C26869 NCIT MONDO:0002771 pulmonary fibrosis oio:hasExactSynonym pulmonary interstitial fibrosis pulmonary interstitial fibrosis Pulmonary interstitial fibrosis NCIT:C26869 Pulmonary Fibrosis confirmed pulmonary interstitial fibrosis NCIT:C26869 NCIT @@ -41731,8 +40811,8 @@ MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary neoplas MONDO:0002788 papillary craniopharyngioma oio:hasExactSynonym papillary tumor of Rathke's pouch papillary tumor of Rathke's pouch Papillary Tumor of Rathke's Pouch NCIT:C4725 Papillary Craniopharyngioma confirmed papillary tumor of Rathke's pouch NCIT:C4725 NCIT MONDO:0002789 hemangiopericytic tumor oio:hasExactSynonym hemangiopericytic neoplasm hemangiopericytic neoplasm Hemangiopericytic Neoplasm NCIT:C7076 Hemangiopericytic Neoplasm confirmed hemangiopericytic neoplasm NCIT:C7076 NCIT MONDO:0002790 seminal vesicle tumor oio:hasExactSynonym seminal vesicle neoplasm seminal vesicle neoplasm Seminal Vesicle Neoplasm NCIT:C39908 Seminal Vesicle Neoplasm confirmed seminal vesicle neoplasm NCIT:C39908 NCIT -MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma confirmed large cell medulloblastoma NCIT:C6904 NCIT MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large Cell Medulloblastoma NCIT:C6904 Large Cell Medulloblastoma confirmed large cell medulloblastoma NCIT:C6904 NCIT +MONDO:0002791 large cell medulloblastoma oio:hasExactSynonym large cell medulloblastoma large cell medulloblastoma Large cell medulloblastoma NCIT:C6904 Large Cell Medulloblastoma confirmed large cell medulloblastoma NCIT:C6904 NCIT MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym cerebellar vermis medulloblastoma cerebellar vermis medulloblastoma Cerebellar Vermis Medulloblastoma NCIT:C5401 Cerebellar Vermis Medulloblastoma confirmed cerebellar vermis medulloblastoma NCIT:C5401 NCIT MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of cerebellar vermis medulloblastoma of cerebellar vermis Medulloblastoma of Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma confirmed medulloblastoma of cerebellar vermis NCIT:C5401 NCIT MONDO:0002792 cerebellar vermis medulloblastoma oio:hasExactSynonym medulloblastoma of the cerebellar vermis medulloblastoma of the cerebellar vermis Medulloblastoma of the Cerebellar Vermis NCIT:C5401 Cerebellar Vermis Medulloblastoma confirmed medulloblastoma of the cerebellar vermis NCIT:C5401 NCIT @@ -41751,7 +40831,6 @@ MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medullobl MONDO:0002796 melanotic medulloblastoma oio:hasExactSynonym melanotic medulloblastoma melanotic medulloblastoma Melanotic Medulloblastoma NCIT:C9497 Melanocytic Medulloblastoma confirmed melanotic medulloblastoma NCIT:C9497 NCIT MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym childhood medulloblastoma childhood medulloblastoma Childhood Medulloblastoma NCIT:C3997 Childhood Medulloblastoma confirmed childhood medulloblastoma NCIT:C3997 NCIT MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym pediatric medulloblastoma pediatric medulloblastoma Pediatric Medulloblastoma NCIT:C3997 Childhood Medulloblastoma confirmed pediatric medulloblastoma NCIT:C3997 NCIT -MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified confirmed Central nervous system embryonal tumor, NOS NCIT:C5398 NCIT MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym Central nervous system embryonal tumor, NOS Central nervous system embryonal tumor, NOS Central Nervous System Embryonal Tumor, NOS NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified confirmed Central nervous system embryonal tumor, NOS NCIT:C5961 NCIT MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS PNET childhood CNS PNET Childhood CNS PNET NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified confirmed childhood CNS PNET NCIT:C5961 NCIT MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm oio:hasExactSynonym childhood CNS primitive neuroectodermal neoplasm childhood CNS primitive neuroectodermal neoplasm Childhood CNS Primitive Neuroectodermal Neoplasm NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified confirmed childhood CNS primitive neuroectodermal neoplasm NCIT:C5961 NCIT @@ -41909,8 +40988,8 @@ MONDO:0002869 heart valve disorder oio:hasExactSynonym valvular heart disorder MONDO:0002870 tricuspid valve insufficiency oio:hasExactSynonym tricuspid insufficiency tricuspid insufficiency Tricuspid Insufficiency NCIT:C50842 Tricuspid Valve Insufficiency confirmed tricuspid insufficiency NCIT:C50842 NCIT MONDO:0002871 testicular trophoblastic tumor oio:hasExactSynonym testicular trophoblastic tumor testicular trophoblastic tumor Testicular Trophoblastic Tumor NCIT:C39934 Testicular Trophoblastic Tumor confirmed testicular trophoblastic tumor NCIT:C39934 NCIT MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasm trophoblastic neoplasm Trophoblastic Neoplasm NCIT:C3422 Trophoblastic Tumor confirmed trophoblastic neoplasm NCIT:C3422 NCIT -MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor confirmed trophoblastic neoplasms NCIT:C3422 NCIT MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic Neoplasms NCIT:C3422 Trophoblastic Tumor confirmed trophoblastic neoplasms NCIT:C3422 NCIT +MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic neoplasms trophoblastic neoplasms Trophoblastic neoplasms NCIT:C3422 Trophoblastic Tumor confirmed trophoblastic neoplasms NCIT:C3422 NCIT MONDO:0002872 trophoblastic neoplasm oio:hasExactSynonym trophoblastic tumor trophoblastic tumor Trophoblastic Tumor NCIT:C3422 Trophoblastic Tumor confirmed trophoblastic tumor NCIT:C3422 NCIT MONDO:0002874 testicular pure germ cell tumor oio:hasExactSynonym testicular Pure germ cell tumor testicular Pure germ cell tumor Testicular Pure Germ Cell Tumor NCIT:C39915 Testicular Pure Germ Cell Tumor confirmed testicular Pure germ cell tumor NCIT:C39915 NCIT MONDO:0002876 cervical adenosarcoma oio:hasExactSynonym cervical Mullerian adenosarcoma cervical Mullerian adenosarcoma Cervical Mullerian Adenosarcoma NCIT:C40229 Cervical Adenosarcoma confirmed cervical Mullerian adenosarcoma NCIT:C40229 NCIT @@ -41963,7 +41042,6 @@ MONDO:0002880 ovarian adenosarcoma oio:hasExactSynonym ovarian mullerian adenos MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Mullerian adenosarcoma vaginal Mullerian adenosarcoma Vaginal Mullerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma confirmed vaginal Mullerian adenosarcoma NCIT:C40277 NCIT MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal Müllerian adenosarcoma vaginal Müllerian adenosarcoma Vaginal Müllerian Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma confirmed vaginal Müllerian adenosarcoma NCIT:C40277 NCIT MONDO:0002881 vaginal adenosarcoma oio:hasExactSynonym vaginal adenosarcoma vaginal adenosarcoma Vaginal Adenosarcoma NCIT:C40277 Vaginal Adenosarcoma confirmed vaginal adenosarcoma NCIT:C40277 NCIT -MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor confirmed colon neuroendocrine tumor NCIT:C135212 NCIT MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colon neuroendocrine neoplasm colon neuroendocrine neoplasm Colon Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm confirmed colon neuroendocrine neoplasm NCIT:C5697 NCIT MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym colonic neuroendocrine neoplasm colonic neuroendocrine neoplasm Colonic Neuroendocrine Neoplasm NCIT:C5697 Colon Neuroendocrine Neoplasm confirmed colonic neuroendocrine neoplasm NCIT:C5697 NCIT MONDO:0002882 colon neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of colon neuroendocrine neoplasm of colon Neuroendocrine Neoplasm of Colon NCIT:C5697 Colon Neuroendocrine Neoplasm confirmed neuroendocrine neoplasm of colon NCIT:C5697 NCIT @@ -42023,8 +41101,6 @@ MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brain stem glioma MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of brainstem glioma of brainstem Glioma of Brainstem NCIT:C8501 Brain Stem Glioma confirmed glioma of brainstem NCIT:C8501 NCIT MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brain stem glioma of the brain stem Glioma of the Brain Stem NCIT:C8501 Brain Stem Glioma confirmed glioma of the brain stem NCIT:C8501 NCIT MONDO:0002911 brain stem glioma oio:hasExactSynonym glioma of the brainstem glioma of the brainstem Glioma of the Brainstem NCIT:C8501 Brain Stem Glioma confirmed glioma of the brainstem NCIT:C8501 NCIT -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma confirmed brain stem glioma NCIT:C9042 NCIT -MONDO:0002911 brain stem glioma oio:hasExactSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma confirmed brain stem glioma NCIT:C9091 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brain stem malignant neoplasm of brain stem Malignant Neoplasm of Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm confirmed malignant neoplasm of brain stem NCIT:C3570 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of brainstem malignant neoplasm of brainstem Malignant Neoplasm of Brainstem NCIT:C3570 Malignant Brain Stem Neoplasm confirmed malignant neoplasm of brainstem NCIT:C3570 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym malignant neoplasm of the brain stem malignant neoplasm of the brain stem Malignant Neoplasm of the Brain Stem NCIT:C3570 Malignant Brain Stem Neoplasm confirmed malignant neoplasm of the brain stem NCIT:C3570 NCIT @@ -42039,7 +41115,6 @@ MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of cerebellum ne MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym neoplasm of the cerebellum neoplasm of the cerebellum Neoplasm of the Cerebellum NCIT:C2935 Cerebellar Neoplasm confirmed neoplasm of the cerebellum NCIT:C2935 NCIT MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of cerebellum tumor of cerebellum Tumor of Cerebellum NCIT:C2935 Cerebellar Neoplasm confirmed tumor of cerebellum NCIT:C2935 NCIT MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym tumor of the cerebellum tumor of the cerebellum Tumor of the Cerebellum NCIT:C2935 Cerebellar Neoplasm confirmed tumor of the cerebellum NCIT:C2935 NCIT -MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C4869 Brain Stem Neoplasm confirmed brain stem neoplasm NCIT:C4869 NCIT MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym brain stem neoplasm brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm confirmed brain stem neoplasm NCIT:C5969 NCIT MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem neoplasm childhood brain stem neoplasm Childhood Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm confirmed childhood brain stem neoplasm NCIT:C5969 NCIT MONDO:0002914 childhood brain stem neoplasm oio:hasExactSynonym childhood brain stem tumor childhood brain stem tumor Childhood Brain Stem Tumor NCIT:C5969 Childhood Brain Stem Neoplasm confirmed childhood brain stem tumor NCIT:C5969 NCIT @@ -42075,8 +41150,8 @@ MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynon MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of brainstem intraparenchymal clear cell meningioma of brainstem Intraparenchymal Clear Cell Meningioma of Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma confirmed intraparenchymal clear cell meningioma of brainstem NCIT:C5295 NCIT MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of the brainstem intraparenchymal clear cell meningioma of the brainstem Intraparenchymal Clear Cell Meningioma of the Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma confirmed intraparenchymal clear cell meningioma of the brainstem NCIT:C5295 NCIT MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym hair disorder hair disorder Hair Disorder NCIT:C34656 Hair Disorder confirmed hair disorder NCIT:C34656 NCIT -MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear Cell Meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT +MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of posterior cranial fossa meningioma of posterior cranial fossa Meningioma of Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma confirmed meningioma of posterior cranial fossa NCIT:C6775 NCIT MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of the posterior cranial fossa meningioma of the posterior cranial fossa Meningioma of the Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma confirmed meningioma of the posterior cranial fossa NCIT:C6775 NCIT MONDO:0002920 malignant ovarian Brenner tumor oio:hasExactSynonym malignant Brenner tumor of ovary malignant Brenner tumor of ovary Malignant Brenner Tumor of Ovary NCIT:C4270 Malignant Ovarian Brenner Tumor confirmed malignant Brenner tumor of ovary NCIT:C4270 NCIT @@ -42113,11 +41188,11 @@ MONDO:0002935 penis basal cell carcinoma oio:hasExactSynonym penile basal cell MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of scrotum basal cell carcinoma of scrotum Basal Cell Carcinoma of Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma confirmed basal cell carcinoma of scrotum NCIT:C6386 NCIT MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym scrotal basal cell carcinoma scrotal basal cell carcinoma Scrotal Basal Cell Carcinoma NCIT:C6386 Scrotal Basal Cell Carcinoma confirmed scrotal basal cell carcinoma NCIT:C6386 NCIT MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Nodulo-ulcerative basal cell carcinoma Nodulo-ulcerative basal cell carcinoma Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma confirmed Nodulo-ulcerative basal cell carcinoma NCIT:C5568 NCIT -MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma confirmed Rodent Ulcer NCIT:C5568 NCIT MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer Rodent Ulcer Rodent ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma confirmed Rodent Ulcer NCIT:C5568 NCIT +MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym Rodent Ulcer NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma confirmed Rodent Ulcer NCIT:C5568 NCIT MONDO:0002937 nodular basal cell carcinoma oio:hasExactSynonym skin nodulo-ulcerative basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma Skin Nodulo-Ulcerative Basal Cell Carcinoma NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma confirmed skin nodulo-ulcerative basal cell carcinoma NCIT:C5568 NCIT -MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma confirmed pigmented basal cell carcinoma NCIT:C9359 NCIT MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented basal cell carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma confirmed pigmented basal cell carcinoma NCIT:C9359 NCIT +MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym pigmented basal cell carcinoma pigmented basal cell carcinoma Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma confirmed pigmented basal cell carcinoma NCIT:C9359 NCIT MONDO:0002939 skin pigmented basal cell carcinoma oio:hasExactSynonym skin pigmented basal cell carcinoma skin pigmented basal cell carcinoma Skin Pigmented Basal Cell Carcinoma NCIT:C9359 Skin Pigmented Basal Cell Carcinoma confirmed skin pigmented basal cell carcinoma NCIT:C9359 NCIT MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym anal margin basal cell carcinoma anal margin basal cell carcinoma Anal Margin Basal Cell Carcinoma NCIT:C7473 Anal Margin Basal Cell Carcinoma confirmed anal margin basal cell carcinoma NCIT:C7473 NCIT MONDO:0002940 anal margin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of anal margin basal cell carcinoma of anal margin Basal Cell Carcinoma of Anal Margin NCIT:C7473 Anal Margin Basal Cell Carcinoma confirmed basal cell carcinoma of anal margin NCIT:C7473 NCIT @@ -42142,8 +41217,8 @@ MONDO:0002944 external ear carcinoma oio:hasExactSynonym external Ear carcinoma MONDO:0002944 external ear carcinoma oio:hasExactSynonym external ear carcinoma external ear carcinoma External Ear Carcinoma NCIT:C6081 External Ear Carcinoma confirmed external ear carcinoma NCIT:C6081 NCIT MONDO:0002945 micronodular basal cell carcinoma oio:hasExactSynonym skin micronodular basal cell carcinoma skin micronodular basal cell carcinoma Skin Micronodular Basal Cell Carcinoma NCIT:C27541 Skin Micronodular Basal Cell Carcinoma confirmed skin micronodular basal cell carcinoma NCIT:C27541 NCIT MONDO:0002947 adamantinoid basal cell epithelioma oio:hasExactSynonym skin adamantinoid basal cell carcinoma skin adamantinoid basal cell carcinoma Skin Adamantinoid Basal Cell Carcinoma NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma confirmed skin adamantinoid basal cell carcinoma NCIT:C7585 NCIT -MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT +MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus fibroepithelioma of Pinkus Fibroepithelioma of Pinkus NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed fibroepithelioma of Pinkus NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus type fibroepithelioma of Pinkus type Fibroepithelioma of Pinkus type NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed fibroepithelioma of Pinkus type NCIT:C4109 NCIT MONDO:0002949 morpheaform basal cell carcinoma oio:hasExactSynonym basal cell carcinoma sclerosing type basal cell carcinoma sclerosing type Basal Cell Carcinoma Sclerosing Type NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma confirmed basal cell carcinoma sclerosing type NCIT:C27182 NCIT @@ -42188,12 +41263,9 @@ MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amela MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amelanotic melanoma Amelanotic melanoma NCIT:C3802 Amelanotic Melanoma confirmed amelanotic melanoma NCIT:C3802 NCIT MONDO:0002971 amelanotic melanoma oio:hasExactSynonym melanoma, amelanotic, malignant melanoma, amelanotic, malignant MELANOMA, AMELANOTIC, MALIGNANT NCIT:C3802 Amelanotic Melanoma confirmed melanoma, amelanotic, malignant NCIT:C3802 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell malignant melanoma epithelioid cell malignant melanoma Epithelioid Cell Malignant Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell malignant melanoma NCIT:C4236 NCIT -MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid cell melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT +MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid melanoma epithelioid melanoma Epithelioid Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid melanoma NCIT:C4236 NCIT -MONDO:0002974 cervical cancer oio:hasExactSynonym cancer of uterine cervix cancer of uterine cervix Cancer of Uterine Cervix NCIT:C9039 Cervical Carcinoma confirmed cancer of uterine cervix NCIT:C9039 NCIT -MONDO:0002974 cervical cancer oio:hasExactSynonym cervix cancer cervix cancer Cervix Cancer NCIT:C9039 Cervical Carcinoma confirmed cervix cancer NCIT:C9039 NCIT -MONDO:0002974 cervical cancer oio:hasExactSynonym uterine cervix cancer uterine cervix cancer Uterine Cervix Cancer NCIT:C9039 Cervical Carcinoma confirmed uterine cervix cancer NCIT:C9039 NCIT MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical neoplasm malignant cervical neoplasm Malignant Cervical Neoplasm NCIT:C9311 Malignant Cervical Neoplasm confirmed malignant cervical neoplasm NCIT:C9311 NCIT MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical tumor malignant cervical tumor Malignant Cervical Tumor NCIT:C9311 Malignant Cervical Neoplasm confirmed malignant cervical tumor NCIT:C9311 NCIT MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervix neoplasm malignant cervix neoplasm Malignant Cervix Neoplasm NCIT:C9311 Malignant Cervical Neoplasm confirmed malignant cervix neoplasm NCIT:C9311 NCIT @@ -42221,12 +41293,12 @@ MONDO:0002975 malignant breast melanoma oio:hasExactSynonym malignant melanoma MONDO:0002977 autoimmune disorder of the nervous system oio:hasExactSynonym autoimmune nervous system disorder autoimmune nervous system disorder Autoimmune Nervous System Disorder NCIT:C99383 Autoimmune Nervous System Disorder confirmed autoimmune nervous system disorder NCIT:C99383 NCIT MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of orbit alveolar rhabdomyosarcoma of orbit Alveolar Rhabdomyosarcoma of Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma confirmed alveolar rhabdomyosarcoma of orbit NCIT:C6247 NCIT MONDO:0002978 orbit alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma of the orbit alveolar rhabdomyosarcoma of the orbit Alveolar Rhabdomyosarcoma of the Orbit NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma confirmed alveolar rhabdomyosarcoma of the orbit NCIT:C6247 NCIT -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary epidermoid carcinoma NCIT:C4102 NCIT MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary Epidermoid Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary epidermoid carcinoma NCIT:C4102 NCIT +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid carcinoma papillary epidermoid carcinoma Papillary epidermoid carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary epidermoid carcinoma NCIT:C4102 NCIT MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary epidermoid cell carcinoma papillary epidermoid cell carcinoma Papillary Epidermoid Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary epidermoid cell carcinoma NCIT:C4102 NCIT MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous carcinoma papillary squamous carcinoma Papillary Squamous Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary squamous carcinoma NCIT:C4102 NCIT -MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary squamous cell carcinoma NCIT:C4102 NCIT MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary squamous cell carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary squamous cell carcinoma NCIT:C4102 NCIT +MONDO:0002979 papillary squamous carcinoma oio:hasExactSynonym papillary squamous cell carcinoma papillary squamous cell carcinoma Papillary Squamous Cell Carcinoma NCIT:C4102 Papillary Squamous Cell Carcinoma confirmed papillary squamous cell carcinoma NCIT:C4102 NCIT MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym bone peripheral neuroepithelioma bone peripheral neuroepithelioma Bone Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone confirmed bone peripheral neuroepithelioma NCIT:C8776 NCIT MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym osseous peripheral neuroepithelioma osseous peripheral neuroepithelioma Osseous Peripheral Neuroepithelioma NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone confirmed osseous peripheral neuroepithelioma NCIT:C8776 NCIT MONDO:0002981 peripheral primitive neuroectodermal tumor of bone oio:hasExactSynonym peripheral neuroectodermal tumor of bone peripheral neuroectodermal tumor of bone Peripheral Neuroectodermal Tumor of Bone NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone confirmed peripheral neuroectodermal tumor of bone NCIT:C8776 NCIT @@ -42243,8 +41315,8 @@ MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary Reticu MONDO:0002984 reticulohistiocytic granuloma oio:hasExactSynonym solitary reticulohistiocytoma solitary reticulohistiocytoma Solitary Reticulohistiocytoma NCIT:C3356 Solitary Reticulohistiocytoma confirmed solitary reticulohistiocytoma NCIT:C3356 NCIT MONDO:0002988 cervix melanoma oio:hasExactSynonym cervical melanoma cervical melanoma Cervical Melanoma NCIT:C40239 Cervical Melanoma confirmed cervical melanoma NCIT:C40239 NCIT MONDO:0002988 cervix melanoma oio:hasExactSynonym melanoma of the cervix melanoma of the cervix Melanoma of the Cervix NCIT:C40239 Cervical Melanoma confirmed melanoma of the cervix NCIT:C40239 NCIT -MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma confirmed benign fibrous histiocytoma NCIT:C3739 NCIT MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma confirmed benign fibrous histiocytoma NCIT:C3739 NCIT +MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym benign fibrous histiocytoma benign fibrous histiocytoma Benign fibrous histiocytoma NCIT:C3739 Fibrous Histiocytoma confirmed benign fibrous histiocytoma NCIT:C3739 NCIT MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym fibrous histiocytoma fibrous histiocytoma Fibrous Histiocytoma NCIT:C3739 Fibrous Histiocytoma confirmed fibrous histiocytoma NCIT:C3739 NCIT MONDO:0002989 benign fibrous histiocytoma oio:hasExactSynonym histiocytoma, fibrous, benign histiocytoma, fibrous, benign HISTIOCYTOMA, FIBROUS, BENIGN NCIT:C3739 Fibrous Histiocytoma confirmed histiocytoma, fibrous, benign NCIT:C3739 NCIT MONDO:0002990 benign deep fibrous histiocytoma oio:hasExactSynonym benign deep fibrous histiocytoma benign deep fibrous histiocytoma Benign Deep Fibrous Histiocytoma NCIT:C6492 Deep Fibrous Histiocytoma confirmed benign deep fibrous histiocytoma NCIT:C6492 NCIT @@ -42265,8 +41337,6 @@ MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma MONDO:0002997 anterior cranial fossa meningioma oio:hasExactSynonym meningioma of the anterior fossa meningioma of the anterior fossa Meningioma of the Anterior Fossa NCIT:C5286 Anterior Cranial Fossa Meningioma confirmed meningioma of the anterior fossa NCIT:C5286 NCIT MONDO:0002998 skull base meningioma oio:hasExactSynonym meningioma of the skull base meningioma of the skull base Meningioma of the Skull Base NCIT:C5272 Skull Base Meningioma confirmed meningioma of the skull base NCIT:C5272 NCIT MONDO:0002998 skull base meningioma oio:hasExactSynonym skull base meningioma skull base meningioma Skull Base Meningioma NCIT:C5272 Skull Base Meningioma confirmed skull base meningioma NCIT:C5272 NCIT -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma confirmed central nervous system germinoma NCIT:C27406 NCIT -MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma confirmed central nervous system germinoma NCIT:C5792 NCIT MONDO:0002999 central nervous system germinoma oio:hasExactSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma confirmed central nervous system germinoma NCIT:C7009 NCIT MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of CNS germinoma of CNS Germinoma of CNS NCIT:C7009 Central Nervous System Germinoma confirmed germinoma of CNS NCIT:C7009 NCIT MONDO:0002999 central nervous system germinoma oio:hasExactSynonym germinoma of central nervous system germinoma of central nervous system Germinoma of Central Nervous System NCIT:C7009 Central Nervous System Germinoma confirmed germinoma of central nervous system NCIT:C7009 NCIT @@ -42284,8 +41354,6 @@ MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ c MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of central nervous system germ cell tumor of central nervous system Germ Cell Tumor of Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor confirmed germ cell tumor of central nervous system NCIT:C5461 NCIT MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the CNS germ cell tumor of the CNS Germ Cell Tumor of the CNS NCIT:C5461 Central Nervous System Germ Cell Tumor confirmed germ cell tumor of the CNS NCIT:C5461 NCIT MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym germ cell tumor of the central nervous system germ cell tumor of the central nervous system Germ Cell Tumor of the Central Nervous System NCIT:C5461 Central Nervous System Germ Cell Tumor confirmed germ cell tumor of the central nervous system NCIT:C5461 NCIT -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor confirmed central nervous system germ cell tumor NCIT:C6205 NCIT -MONDO:0003000 central nervous system germ cell tumor oio:hasExactSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor confirmed central nervous system germ cell tumor NCIT:C6285 NCIT MONDO:0003001 seminoma oio:hasExactSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma confirmed seminoma NCIT:C9309 NCIT MONDO:0003001 seminoma oio:hasExactSynonym seminoma, malignant seminoma, malignant SEMINOMA, MALIGNANT NCIT:C9309 Seminoma confirmed seminoma, malignant NCIT:C9309 NCIT MONDO:0003001 seminoma oio:hasExactSynonym seminoma, pure seminoma, pure Seminoma, Pure NCIT:C9309 Seminoma confirmed seminoma, pure NCIT:C9309 NCIT @@ -42433,12 +41501,12 @@ MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningio MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningioma, benign MENINGIOMA, BENIGN NCIT:C4055 Benign Meningioma confirmed meningioma, benign NCIT:C4055 NCIT MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory Meningioma NCIT:C4718 Secretory Meningioma confirmed secretory meningioma NCIT:C4718 NCIT MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory meningioma NCIT:C4718 Secretory Meningioma confirmed secretory meningioma NCIT:C4718 NCIT -MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich Meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT +MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT MONDO:0003057 pediatric meningioma oio:hasExactSynonym childhood meningioma childhood meningioma Childhood Meningioma NCIT:C8264 Childhood Meningioma confirmed childhood meningioma NCIT:C8264 NCIT MONDO:0003057 pediatric meningioma oio:hasExactSynonym pediatric meningioma pediatric meningioma Pediatric Meningioma NCIT:C8264 Childhood Meningioma confirmed pediatric meningioma NCIT:C8264 NCIT -MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic Meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT +MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle neoplasm benign muscle neoplasm Benign Muscle Neoplasm NCIT:C4882 Benign Muscle Neoplasm confirmed benign muscle neoplasm NCIT:C4882 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle tumor benign muscle tumor Benign Muscle Tumor NCIT:C4882 Benign Muscle Neoplasm confirmed benign muscle tumor NCIT:C4882 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign neoplasm of muscle benign neoplasm of muscle Benign Neoplasm of Muscle NCIT:C4882 Benign Muscle Neoplasm confirmed benign neoplasm of muscle NCIT:C4882 NCIT @@ -42477,10 +41545,8 @@ MONDO:0003072 retinal cancer oio:hasExactSynonym malignant retinal tumor malign MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of retina malignant tumor of retina Malignant Tumor of Retina NCIT:C3216 Malignant Retinal Neoplasm confirmed malignant tumor of retina NCIT:C3216 NCIT MONDO:0003072 retinal cancer oio:hasExactSynonym malignant tumor of the retina malignant tumor of the retina Malignant Tumor of the Retina NCIT:C3216 Malignant Retinal Neoplasm confirmed malignant tumor of the retina NCIT:C3216 NCIT MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma confirmed intraocular retinoblastoma NCIT:C7846 NCIT -MONDO:0003077 intraocular retinoblastoma oio:hasExactSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma confirmed intraocular retinoblastoma NCIT:C9047 NCIT MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma confirmed extraocular retinoblastoma NCIT:C7848 NCIT MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym metastatic retinoblastoma metastatic retinoblastoma Metastatic Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma confirmed metastatic retinoblastoma NCIT:C7848 NCIT -MONDO:0003078 extraocular retinoblastoma oio:hasExactSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma confirmed extraocular retinoblastoma NCIT:C9048 NCIT MONDO:0003079 mastocytoma oio:hasExactSynonym mastocytoma mastocytoma Mastocytoma NCIT:C9303 Mastocytoma confirmed mastocytoma NCIT:C9303 NCIT MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous angioma Venous angioma Venous Angioma NCIT:C4296 Venous Hemangioma confirmed Venous angioma NCIT:C4296 NCIT MONDO:0003083 venous hemangioma oio:hasExactSynonym Venous malformation Venous malformation Venous Malformation NCIT:C4296 Venous Hemangioma confirmed Venous malformation NCIT:C4296 NCIT @@ -42690,7 +41756,6 @@ MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym neoplasm of the Cauda e MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of Cauda equina tumor of Cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm confirmed tumor of Cauda equina NCIT:C5479 NCIT MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of cauda equina tumor of cauda equina Tumor of Cauda Equina NCIT:C5479 Cauda Equina Neoplasm confirmed tumor of cauda equina NCIT:C5479 NCIT MONDO:0003164 cauda equina neoplasm oio:hasExactSynonym tumor of the Cauda equina tumor of the Cauda equina Tumor of the Cauda Equina NCIT:C5479 Cauda Equina Neoplasm confirmed tumor of the Cauda equina NCIT:C5479 NCIT -MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma confirmed cerebellar astrocytoma NCIT:C6286 NCIT MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of cerebellum astrocytoma of cerebellum Astrocytoma of Cerebellum NCIT:C9475 Cerebellar Astrocytoma confirmed astrocytoma of cerebellum NCIT:C9475 NCIT MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma of the cerebellum astrocytoma of the cerebellum Astrocytoma of the Cerebellum NCIT:C9475 Cerebellar Astrocytoma confirmed astrocytoma of the cerebellum NCIT:C9475 NCIT MONDO:0003165 cerebellar astrocytoma oio:hasExactSynonym astrocytoma, cerebellar astrocytoma, cerebellar Astrocytoma, Cerebellar NCIT:C9475 Cerebellar Astrocytoma confirmed astrocytoma, cerebellar NCIT:C9475 NCIT @@ -42765,15 +41830,15 @@ MONDO:0003190 middle ear carcinoma oio:hasExactSynonym carcinoma of the middle MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle Ear carcinoma middle Ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma confirmed middle Ear carcinoma NCIT:C6089 NCIT MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle ear carcinoma middle ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma confirmed middle ear carcinoma NCIT:C6089 NCIT MONDO:0003191 rete ovarii adenocarcinoma oio:hasExactSynonym rete ovarii adenocarcinoma rete ovarii adenocarcinoma Rete Ovarii Adenocarcinoma NCIT:C40017 Rete Ovarii Adenocarcinoma confirmed rete ovarii adenocarcinoma NCIT:C40017 NCIT -MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile duct adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT +MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym appendix carcinoma appendix carcinoma Appendix Carcinoma NCIT:C9330 Appendix Carcinoma confirmed appendix carcinoma NCIT:C9330 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of appendix carcinoma of appendix Carcinoma of Appendix NCIT:C9330 Appendix Carcinoma confirmed carcinoma of appendix NCIT:C9330 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of the appendix carcinoma of the appendix Carcinoma of the Appendix NCIT:C9330 Appendix Carcinoma confirmed carcinoma of the appendix NCIT:C9330 NCIT -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular cell adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular cell carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small bowel adenocarcinoma of small bowel Adenocarcinoma of Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of small bowel NCIT:C7888 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine Adenocarcinoma of Small Intestine NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of small intestine NCIT:C7888 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of the small bowel adenocarcinoma of the small bowel Adenocarcinoma of the Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of the small bowel NCIT:C7888 NCIT @@ -42790,8 +41855,8 @@ MONDO:0003200 urethra adenocarcinoma oio:hasExactSynonym urethral adenocarcinom MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil adenocarcinoma basophil adenocarcinoma Basophil Adenocarcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma confirmed basophil adenocarcinoma NCIT:C27392 NCIT MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym basophil carcinoma basophil carcinoma Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma confirmed basophil carcinoma NCIT:C27392 NCIT MONDO:0003202 pituitary gland basophilic carcinoma oio:hasExactSynonym pituitary gland basophil carcinoma pituitary gland basophil carcinoma Pituitary Gland Basophil Carcinoma NCIT:C27392 Pituitary Gland Basophil Carcinoma confirmed pituitary gland basophil carcinoma NCIT:C27392 NCIT -MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma confirmed villous adenocarcinoma NCIT:C4142 NCIT MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous Adenocarcinoma NCIT:C4142 Villous Adenocarcinoma confirmed villous adenocarcinoma NCIT:C4142 NCIT +MONDO:0003204 villous adenocarcinoma oio:hasExactSynonym villous adenocarcinoma villous adenocarcinoma Villous adenocarcinoma NCIT:C4142 Villous Adenocarcinoma confirmed villous adenocarcinoma NCIT:C4142 NCIT MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney pelvis adenocarcinoma of kidney pelvis Adenocarcinoma of Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma confirmed adenocarcinoma of kidney pelvis NCIT:C6143 NCIT MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of renal pelvis adenocarcinoma of renal pelvis Adenocarcinoma of Renal Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma confirmed adenocarcinoma of renal pelvis NCIT:C6143 NCIT MONDO:0003205 renal pelvis adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney pelvis adenocarcinoma of the kidney pelvis Adenocarcinoma of the Kidney Pelvis NCIT:C6143 Renal Pelvis Adenocarcinoma confirmed adenocarcinoma of the kidney pelvis NCIT:C6143 NCIT @@ -42813,8 +41878,8 @@ MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym juvenile secretory carcinoma of the breast juvenile secretory carcinoma of the breast Juvenile Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma confirmed juvenile secretory carcinoma of the breast NCIT:C4189 NCIT MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory breast carcinoma secretory breast carcinoma Secretory Breast Carcinoma NCIT:C4189 Breast Secretory Carcinoma confirmed secretory breast carcinoma NCIT:C4189 NCIT MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma secretory carcinoma Secretory Carcinoma NCIT:C4189 Breast Secretory Carcinoma confirmed secretory carcinoma NCIT:C4189 NCIT -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma confirmed secretory carcinoma of breast NCIT:C4189 NCIT MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory carcinoma of breast NCIT:C4189 Breast Secretory Carcinoma confirmed secretory carcinoma of breast NCIT:C4189 NCIT +MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of breast secretory carcinoma of breast Secretory Carcinoma of Breast NCIT:C4189 Breast Secretory Carcinoma confirmed secretory carcinoma of breast NCIT:C4189 NCIT MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym secretory carcinoma of the breast secretory carcinoma of the breast Secretory Carcinoma of the Breast NCIT:C4189 Breast Secretory Carcinoma confirmed secretory carcinoma of the breast NCIT:C4189 NCIT MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym Thymus adenocarcinoma Thymus adenocarcinoma Thymus Adenocarcinoma NCIT:C6459 Thymic Adenocarcinoma confirmed Thymus adenocarcinoma NCIT:C6459 NCIT MONDO:0003209 thymus gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of Thymus adenocarcinoma of Thymus Adenocarcinoma of Thymus NCIT:C6459 Thymic Adenocarcinoma confirmed adenocarcinoma of Thymus NCIT:C6459 NCIT @@ -42830,7 +41895,6 @@ MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma Intrahepatic Cholangiocarcinoma NCIT:C35417 Intrahepatic Cholangiocarcinoma confirmed intrahepatic cholangiocarcinoma NCIT:C35417 NCIT MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC ICC iCC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ICC NCIT:C35417 NCIT MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym ICC NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ICC NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0003210 intrahepatic cholangiocarcinoma oio:hasExactSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma confirmed intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 NCIT MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of nasal cavity adenocarcinoma of nasal cavity Adenocarcinoma of Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma confirmed adenocarcinoma of nasal cavity NCIT:C6015 NCIT MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym adenocarcinoma of the nasal cavity adenocarcinoma of the nasal cavity Adenocarcinoma of the Nasal Cavity NCIT:C6015 Nasal Cavity Adenocarcinoma confirmed adenocarcinoma of the nasal cavity NCIT:C6015 NCIT MONDO:0003211 nasal cavity adenocarcinoma oio:hasExactSynonym nasal cavity adenocarcinoma nasal cavity adenocarcinoma Nasal Cavity Adenocarcinoma NCIT:C6015 Nasal Cavity Adenocarcinoma confirmed nasal cavity adenocarcinoma NCIT:C6015 NCIT @@ -42852,8 +41916,8 @@ MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of the u MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of ureter adenocarcinoma of ureter Adenocarcinoma of Ureter NCIT:C6155 Ureter Adenocarcinoma confirmed adenocarcinoma of ureter NCIT:C6155 NCIT MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureter adenocarcinoma ureter adenocarcinoma Ureter Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma confirmed ureter adenocarcinoma NCIT:C6155 NCIT MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureteral adenocarcinoma ureteral adenocarcinoma Ureteral Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma confirmed ureteral adenocarcinoma NCIT:C6155 NCIT -MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma in situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT +MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of cardioesophageal junction adenocarcinoma of cardioesophageal junction Adenocarcinoma of Cardioesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of cardioesophageal junction NCIT:C9296 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of gastroesophageal junction adenocarcinoma of gastroesophageal junction Adenocarcinoma of Gastroesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of gastroesophageal junction NCIT:C9296 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of the EG junction adenocarcinoma of the EG junction Adenocarcinoma of the EG Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of the EG junction NCIT:C9296 NCIT @@ -42882,8 +41946,8 @@ MONDO:0003234 optic nerve astrocytoma oio:hasExactSynonym optic nerve astrocyto MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of optic nerve glioma of optic nerve Glioma of Optic Nerve NCIT:C4537 Optic Nerve Glioma confirmed glioma of optic nerve NCIT:C4537 NCIT MONDO:0003235 optic nerve glioma oio:hasExactSynonym glioma of the optic nerve glioma of the optic nerve Glioma of the Optic Nerve NCIT:C4537 Optic Nerve Glioma confirmed glioma of the optic nerve NCIT:C4537 NCIT MONDO:0003235 optic nerve glioma oio:hasExactSynonym optic nerve glioma optic nerve glioma Optic Nerve Glioma NCIT:C4537 Optic Nerve Glioma confirmed optic nerve glioma NCIT:C4537 NCIT -MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma confirmed atypical polypoid adenomyoma NCIT:C6895 NCIT MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical Polypoid Adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma confirmed atypical polypoid adenomyoma NCIT:C6895 NCIT +MONDO:0003236 atypical polypoid adenomyoma oio:hasExactSynonym atypical polypoid adenomyoma atypical polypoid adenomyoma Atypical polypoid adenomyoma NCIT:C6895 Atypical Polypoid Adenomyoma confirmed atypical polypoid adenomyoma NCIT:C6895 NCIT MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of body of uterus adenomyoma of body of uterus Adenomyoma of Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma confirmed adenomyoma of body of uterus NCIT:C6338 NCIT MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of corpus uteri adenomyoma of corpus uteri Adenomyoma of Corpus Uteri NCIT:C6338 Uterine Corpus Adenomyoma confirmed adenomyoma of corpus uteri NCIT:C6338 NCIT MONDO:0003237 adenomyoma of uterine corpus oio:hasExactSynonym adenomyoma of the body of uterus adenomyoma of the body of uterus Adenomyoma of the Body of Uterus NCIT:C6338 Uterine Corpus Adenomyoma confirmed adenomyoma of the body of uterus NCIT:C6338 NCIT @@ -42933,8 +41997,8 @@ MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym af MONDO:0003245 aflatoxin-related hepatocellular carcinoma oio:hasExactSynonym aflatoxins-related hepatocellular carcinoma aflatoxins-related hepatocellular carcinoma Aflatoxins-Related Hepatocellular Carcinoma NCIT:C27922 Aflatoxins-Related Hepatocellular Carcinoma confirmed aflatoxins-related hepatocellular carcinoma NCIT:C27922 NCIT MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular cancer scirrhous hepatocellular cancer Scirrhous Hepatocellular Cancer NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed scirrhous hepatocellular cancer NCIT:C27388 NCIT MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym scirrhous hepatocellular carcinoma scirrhous hepatocellular carcinoma Scirrhous Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed scirrhous hepatocellular carcinoma NCIT:C27388 NCIT -MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed sclerosing hepatic carcinoma NCIT:C27388 NCIT MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing hepatic carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed sclerosing hepatic carcinoma NCIT:C27388 NCIT +MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatic carcinoma sclerosing hepatic carcinoma Sclerosing Hepatic Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed sclerosing hepatic carcinoma NCIT:C27388 NCIT MONDO:0003246 sclerosing hepatic carcinoma oio:hasExactSynonym sclerosing hepatocellular carcinoma sclerosing hepatocellular carcinoma Sclerosing Hepatocellular Carcinoma NCIT:C27388 Scirrhous Hepatocellular Carcinoma confirmed sclerosing hepatocellular carcinoma NCIT:C27388 NCIT MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland neoplasm adult pineal gland neoplasm Adult Pineal Gland Neoplasm NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm confirmed adult pineal gland neoplasm NCIT:C8273 NCIT MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym adult pineal gland tumor adult pineal gland tumor Adult Pineal Gland Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm confirmed adult pineal gland tumor NCIT:C8273 NCIT @@ -42974,8 +42038,8 @@ MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell neoplasm of the esophagus granular cell neoplasm of the esophagus Granular Cell Neoplasm of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell neoplasm of the esophagus NCIT:C5700 NCIT MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of esophagus granular cell tumor of esophagus Granular Cell Tumor of Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell tumor of esophagus NCIT:C5700 NCIT MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of the esophagus granular cell tumor of the esophagus Granular Cell Tumor of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell tumor of the esophagus NCIT:C5700 NCIT -MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant Granular cell tumor, malignant NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT +MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell myoblastoma malignant granular cell myoblastoma Malignant Granular Cell Myoblastoma NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell myoblastoma NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell neoplasm malignant granular cell neoplasm Malignant Granular Cell Neoplasm NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell neoplasm NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell tumor malignant granular cell tumor Malignant Granular Cell Tumor NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell tumor NCIT:C4336 NCIT @@ -43010,7 +42074,6 @@ MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary gland tumor posterior pituitary gland tumor Posterior Pituitary Gland Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm confirmed posterior pituitary gland tumor NCIT:C7157 NCIT MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary neoplasm posterior pituitary neoplasm Posterior Pituitary Neoplasm NCIT:C7157 Posterior Pituitary Gland Neoplasm confirmed posterior pituitary neoplasm NCIT:C7157 NCIT MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym posterior pituitary tumor posterior pituitary tumor Posterior Pituitary Tumor NCIT:C7157 Posterior Pituitary Gland Neoplasm confirmed posterior pituitary tumor NCIT:C7157 NCIT -MONDO:0003257 posterior pituitary gland neoplasm oio:hasExactSynonym PITUICYTOMA, benign PITUICYTOMA, benign PITUICYTOMA, BENIGN NCIT:C94524 Pituicytoma confirmed PITUICYTOMA, benign NCIT:C94524 NCIT MONDO:0003258 hobnail hemangioma oio:hasExactSynonym Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic hemangioma Targetoid Hemosiderotic Hemangioma NCIT:C27506 Hobnail Hemangioma confirmed Targetoid Hemosiderotic hemangioma NCIT:C27506 NCIT MONDO:0003258 hobnail hemangioma oio:hasExactSynonym hobnail hemangioma hobnail hemangioma Hobnail Hemangioma NCIT:C27506 Hobnail Hemangioma confirmed hobnail hemangioma NCIT:C27506 NCIT MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym adult cerebellar neoplasm adult cerebellar neoplasm Adult Cerebellar Neoplasm NCIT:C5968 Adult Cerebellar Neoplasm confirmed adult cerebellar neoplasm NCIT:C5968 NCIT @@ -43023,8 +42086,8 @@ MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of adult cere MONDO:0003260 adult cerebellar neoplasm oio:hasExactSynonym tumor of the adult cerebellum tumor of the adult cerebellum Tumor of the Adult Cerebellum NCIT:C5968 Adult Cerebellar Neoplasm confirmed tumor of the adult cerebellum NCIT:C5968 NCIT MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of cerebellum papillary meningioma of cerebellum Papillary Meningioma of Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma confirmed papillary meningioma of cerebellum NCIT:C5270 NCIT MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym papillary meningioma of the cerebellum papillary meningioma of the cerebellum Papillary Meningioma of the Cerebellum NCIT:C5270 Cerebellar Papillary Meningioma confirmed papillary meningioma of the cerebellum NCIT:C5270 NCIT -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma confirmed rhabdoid meningioma NCIT:C6909 NCIT MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid meningioma NCIT:C6909 Rhabdoid Meningioma confirmed rhabdoid meningioma NCIT:C6909 NCIT +MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym rhabdoid meningioma rhabdoid meningioma Rhabdoid Meningioma NCIT:C6909 Rhabdoid Meningioma confirmed rhabdoid meningioma NCIT:C6909 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasm childhood cerebellar neoplasm Childhood Cerebellar Neoplasm NCIT:C5970 Childhood Cerebellar Neoplasm confirmed childhood cerebellar neoplasm NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar neoplasms childhood cerebellar neoplasms Childhood Cerebellar Neoplasms NCIT:C5970 Childhood Cerebellar Neoplasm confirmed childhood cerebellar neoplasms NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym childhood cerebellar tumor childhood cerebellar tumor Childhood Cerebellar Tumor NCIT:C5970 Childhood Cerebellar Neoplasm confirmed childhood cerebellar tumor NCIT:C5970 NCIT @@ -43039,8 +42102,8 @@ MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neopl MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neoplasm of the cerebellum pediatric neoplasm of the cerebellum Pediatric Neoplasm of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric neoplasm of the cerebellum NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of cerebellum pediatric tumor of cerebellum Pediatric Tumor of Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric tumor of cerebellum NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of the cerebellum pediatric tumor of the cerebellum Pediatric Tumor of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric tumor of the cerebellum NCIT:C5970 NCIT -MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT +MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous cell carcinoma basosquamous cell carcinoma Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous cell carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous tumor, malignant basosquamous tumor, malignant BASOSQUAMOUS TUMOR, MALIGNANT NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous tumor, malignant NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym skin basosquamous cell carcinoma skin basosquamous cell carcinoma Skin Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed skin basosquamous cell carcinoma NCIT:C2922 NCIT @@ -43052,8 +42115,8 @@ MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed glioma, mixed Glio MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed, malignant glioma, mixed, malignant GLIOMA, MIXED, MALIGNANT NCIT:C3903 Mixed Glioma confirmed glioma, mixed, malignant NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial neoplasm mixed glial neoplasm Mixed Glial Neoplasm NCIT:C3903 Mixed Glioma confirmed mixed glial neoplasm NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial tumor mixed glial tumor Mixed Glial Tumor NCIT:C3903 Mixed Glioma confirmed mixed glial tumor NCIT:C3903 NCIT -MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT +MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial neoplasm mixed neuroglial neoplasm Mixed Neuroglial Neoplasm NCIT:C3903 Mixed Glioma confirmed mixed neuroglial neoplasm NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial tumor mixed neuroglial tumor Mixed Neuroglial Tumor NCIT:C3903 Mixed Glioma confirmed mixed neuroglial tumor NCIT:C3903 NCIT MONDO:0003273 sternum cancer oio:hasExactSynonym malignant neoplasm of sternum malignant neoplasm of sternum Malignant Neoplasm of Sternum NCIT:C8408 Malignant Sternal Neoplasm confirmed malignant neoplasm of sternum NCIT:C8408 NCIT @@ -43098,12 +42161,12 @@ MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of central nervous system leiomyoma of central nervous system Leiomyoma of Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of central nervous system NCIT:C6998 NCIT MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the CNS leiomyoma of the CNS Leiomyoma of the CNS NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of the CNS NCIT:C6998 NCIT MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the central nervous system leiomyoma of the central nervous system Leiomyoma of the Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of the central nervous system NCIT:C6998 NCIT -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed bizarre leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed bizarre leiomyoma NCIT:C4257 NCIT -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed pleomorphic leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed pleomorphic leiomyoma NCIT:C4257 NCIT +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed pleomorphic leiomyoma NCIT:C4257 NCIT MONDO:0003289 deep leiomyoma oio:hasExactSynonym deep leiomyoma deep leiomyoma Deep Leiomyoma NCIT:C6512 Deep Leiomyoma confirmed deep leiomyoma NCIT:C6512 NCIT MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous (skin) leiomyoma cutaneous (skin) leiomyoma Cutaneous (Skin) Leiomyoma NCIT:C4482 Skin Leiomyoma confirmed cutaneous (skin) leiomyoma NCIT:C4482 NCIT MONDO:0003291 leiomyoma cutis oio:hasExactSynonym cutaneous leiomyoma cutaneous leiomyoma Cutaneous Leiomyoma NCIT:C4482 Skin Leiomyoma confirmed cutaneous leiomyoma NCIT:C4482 NCIT @@ -43122,8 +42185,8 @@ MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of pericardiu MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym leiomyoma of the pericardium leiomyoma of the pericardium Leiomyoma of the Pericardium NCIT:C6743 Pericardial Leiomyoma confirmed leiomyoma of the pericardium NCIT:C6743 NCIT MONDO:0003294 pericardium leiomyoma oio:hasExactSynonym pericardial leiomyoma pericardial leiomyoma Pericardial Leiomyoma NCIT:C6743 Pericardial Leiomyoma confirmed pericardial leiomyoma NCIT:C6743 NCIT MONDO:0003295 leiomyomatosis oio:hasExactSynonym leiomyomatosis leiomyomatosis Leiomyomatosis NCIT:C3748 Leiomyomatosis confirmed leiomyomatosis NCIT:C3748 NCIT -MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma confirmed cellular leiomyoma NCIT:C4256 NCIT MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular leiomyoma NCIT:C4256 Cellular Leiomyoma confirmed cellular leiomyoma NCIT:C4256 NCIT +MONDO:0003296 cellular leiomyoma oio:hasExactSynonym cellular leiomyoma cellular leiomyoma Cellular Leiomyoma NCIT:C4256 Cellular Leiomyoma confirmed cellular leiomyoma NCIT:C4256 NCIT MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym gallbladder leiomyoma gallbladder leiomyoma Gallbladder Leiomyoma NCIT:C5747 Gallbladder Leiomyoma confirmed gallbladder leiomyoma NCIT:C5747 NCIT MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of gallbladder leiomyoma of gallbladder Leiomyoma of Gallbladder NCIT:C5747 Gallbladder Leiomyoma confirmed leiomyoma of gallbladder NCIT:C5747 NCIT MONDO:0003297 gallbladder leiomyoma oio:hasExactSynonym leiomyoma of the gallbladder leiomyoma of the gallbladder Leiomyoma of the Gallbladder NCIT:C5747 Gallbladder Leiomyoma confirmed leiomyoma of the gallbladder NCIT:C5747 NCIT @@ -43215,8 +42278,8 @@ MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign pericytic ne MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular neoplasm benign perivascular neoplasm Benign Perivascular Neoplasm NCIT:C6529 Benign Pericytic Neoplasm confirmed benign perivascular neoplasm NCIT:C6529 NCIT MONDO:0003342 benign perivascular tumor oio:hasExactSynonym benign perivascular tumor benign perivascular tumor Benign Perivascular Tumor NCIT:C6529 Benign Pericytic Neoplasm confirmed benign perivascular tumor NCIT:C6529 NCIT MONDO:0003343 retinal hemangioblastoma oio:hasExactSynonym retinal hemangioblastoma retinal hemangioblastoma Retinal Hemangioblastoma NCIT:C39783 Retinal Hemangioblastoma confirmed retinal hemangioblastoma NCIT:C39783 NCIT -MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma confirmed Klatskin tumor NCIT:C36077 NCIT MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor NCIT:C36077 Hilar Cholangiocarcinoma confirmed Klatskin tumor NCIT:C36077 NCIT +MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym Klatskin tumor Klatskin tumor Klatskin Tumor NCIT:C36077 Hilar Cholangiocarcinoma confirmed Klatskin tumor NCIT:C36077 NCIT MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar CC hilar CC Hilar CC NCIT:C36077 Hilar Cholangiocarcinoma confirmed hilar CC NCIT:C36077 NCIT MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym hilar cholangiocarcinoma hilar cholangiocarcinoma Hilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma confirmed hilar cholangiocarcinoma NCIT:C36077 NCIT MONDO:0003346 central nervous system vasculitis oio:hasExactSynonym central nervous system vasculitis central nervous system vasculitis Central Nervous System Vasculitis NCIT:C84622 Central Nervous System Vasculitis confirmed central nervous system vasculitis NCIT:C84622 NCIT @@ -43250,8 +42313,8 @@ MONDO:0003354 heart sarcoma oio:hasExactSynonym sarcoma of the heart sarcoma of MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of ovary leiomyosarcoma of ovary Leiomyosarcoma of Ovary NCIT:C5234 Ovarian Leiomyosarcoma confirmed leiomyosarcoma of ovary NCIT:C5234 NCIT MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the ovary leiomyosarcoma of the ovary Leiomyosarcoma of the Ovary NCIT:C5234 Ovarian Leiomyosarcoma confirmed leiomyosarcoma of the ovary NCIT:C5234 NCIT MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym ovarian leiomyosarcoma ovarian leiomyosarcoma Ovarian Leiomyosarcoma NCIT:C5234 Ovarian Leiomyosarcoma confirmed ovarian leiomyosarcoma NCIT:C5234 NCIT -MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT +MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of lung leiomyosarcoma of lung Leiomyosarcoma of Lung NCIT:C5667 Lung Leiomyosarcoma confirmed leiomyosarcoma of lung NCIT:C5667 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the lung leiomyosarcoma of the lung Leiomyosarcoma of the Lung NCIT:C5667 Lung Leiomyosarcoma confirmed leiomyosarcoma of the lung NCIT:C5667 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym lung leiomyosarcoma lung leiomyosarcoma Lung Leiomyosarcoma NCIT:C5667 Lung Leiomyosarcoma confirmed lung leiomyosarcoma NCIT:C5667 NCIT @@ -43420,18 +42483,17 @@ MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma b MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct mucinous cystic neoplasm bile duct mucinous cystic neoplasm Bile Duct Mucinous Cystic Neoplasm NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed bile duct mucinous cystic neoplasm NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of bile duct cystadenoma of bile duct Cystadenoma of Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed cystadenoma of bile duct NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of the bile duct cystadenoma of the bile duct Cystadenoma of the Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed cystadenoma of the bile duct NCIT:C4129 NCIT -MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma confirmed mixed cell adenoma NCIT:C4157 NCIT MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed Cell Adenoma NCIT:C4157 Mixed Cell Adenoma confirmed mixed cell adenoma NCIT:C4157 NCIT +MONDO:0003421 mixed cell adenoma oio:hasExactSynonym mixed cell adenoma mixed cell adenoma Mixed cell adenoma NCIT:C4157 Mixed Cell Adenoma confirmed mixed cell adenoma NCIT:C4157 NCIT MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of lung adenoma of lung Adenoma of Lung NCIT:C4455 Lung Adenoma confirmed adenoma of lung NCIT:C4455 NCIT MONDO:0003422 lung adenoma oio:hasExactSynonym adenoma of the lung adenoma of the lung Adenoma of the Lung NCIT:C4455 Lung Adenoma confirmed adenoma of the lung NCIT:C4455 NCIT MONDO:0003422 lung adenoma oio:hasExactSynonym lung adenoma lung adenoma Lung Adenoma NCIT:C4455 Lung Adenoma confirmed lung adenoma NCIT:C4455 NCIT MONDO:0003422 lung adenoma oio:hasExactSynonym pulmonary adenoma pulmonary adenoma Pulmonary Adenoma NCIT:C4455 Lung Adenoma confirmed pulmonary adenoma NCIT:C4455 NCIT MONDO:0003423 middle ear adenoma oio:hasExactSynonym middle ear adenoma middle ear adenoma Middle Ear Adenoma NCIT:C6834 Middle Ear Neuroendocrine Tumor confirmed middle ear adenoma NCIT:C6834 NCIT -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma confirmed oncocytic adenoma NCIT:C3759 NCIT MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic adenoma NCIT:C3759 Oncocytic Adenoma confirmed oncocytic adenoma NCIT:C3759 NCIT +MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytic adenoma oncocytic adenoma Oncocytic Adenoma NCIT:C3759 Oncocytic Adenoma confirmed oncocytic adenoma NCIT:C3759 NCIT MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic Adenoma NCIT:C3759 Oncocytic Adenoma confirmed oxyphilic adenoma NCIT:C3759 NCIT MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oxyphilic adenoma oxyphilic adenoma Oxyphilic adenoma NCIT:C3759 Oncocytic Adenoma confirmed oxyphilic adenoma NCIT:C3759 NCIT -MONDO:0003424 oncocytic adenoma oio:hasExactSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm confirmed oncocytoma NCIT:C7072 NCIT MONDO:0003426 clear cell adenoma oio:hasExactSynonym adenoma, clear cell, benign adenoma, clear cell, benign ADENOMA, CLEAR CELL, BENIGN NCIT:C4151 Clear Cell Adenoma confirmed adenoma, clear cell, benign NCIT:C4151 NCIT MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear cell adenoma NCIT:C4151 Clear Cell Adenoma confirmed clear cell adenoma NCIT:C4151 NCIT MONDO:0003426 clear cell adenoma oio:hasExactSynonym clear cell adenoma clear cell adenoma Clear Cell Adenoma NCIT:C4151 Clear Cell Adenoma confirmed clear cell adenoma NCIT:C4151 NCIT @@ -43463,8 +42525,8 @@ MONDO:0003432 strabismus oio:hasExactSynonym squint squint Squint NCIT:C35040 S MONDO:0003432 strabismus oio:hasExactSynonym strabismus strabismus Strabismus NCIT:C35040 Strabismus confirmed strabismus NCIT:C35040 NCIT MONDO:0003433 water-clear cell adenoma oio:hasExactSynonym parathyroid gland water-clear cell adenoma parathyroid gland water-clear cell adenoma Parathyroid Gland Water-Clear Cell Adenoma NCIT:C4155 Parathyroid Gland Water-Clear Cell Adenoma confirmed parathyroid gland water-clear cell adenoma NCIT:C4155 NCIT MONDO:0003434 vaginal adenoma oio:hasExactSynonym vaginal adenoma vaginal adenoma Vaginal Adenoma NCIT:C40256 Vaginal Adenoma confirmed vaginal adenoma NCIT:C40256 NCIT -MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma confirmed microcystic adenoma NCIT:C3685 NCIT MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic adenoma NCIT:C3685 Microcystic Adenoma confirmed microcystic adenoma NCIT:C3685 NCIT +MONDO:0003435 microcystic adenoma oio:hasExactSynonym microcystic adenoma microcystic adenoma Microcystic Adenoma NCIT:C3685 Microcystic Adenoma confirmed microcystic adenoma NCIT:C3685 NCIT MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of lung occult small cell carcinoma of lung Occult Small Cell Carcinoma of Lung NCIT:C6683 Occult Lung Small Cell Carcinoma confirmed occult small cell carcinoma of lung NCIT:C6683 NCIT MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell carcinoma of the lung occult small cell carcinoma of the lung Occult Small Cell Carcinoma of the Lung NCIT:C6683 Occult Lung Small Cell Carcinoma confirmed occult small cell carcinoma of the lung NCIT:C6683 NCIT MONDO:0003437 occult small cell lung carcinoma oio:hasExactSynonym occult small cell lung carcinoma occult small cell lung carcinoma Occult Small Cell Lung Carcinoma NCIT:C6683 Occult Lung Small Cell Carcinoma confirmed occult small cell lung carcinoma NCIT:C6683 NCIT @@ -43502,8 +42564,8 @@ MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym intrahepatic b MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of extrahepatic bile duct adenoma of extrahepatic bile duct Adenoma of Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma confirmed adenoma of extrahepatic bile duct NCIT:C5857 NCIT MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of the extrahepatic bile duct adenoma of the extrahepatic bile duct Adenoma of the Extrahepatic Bile Duct NCIT:C5857 Extrahepatic Bile Duct Adenoma confirmed adenoma of the extrahepatic bile duct NCIT:C5857 NCIT MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym extrahepatic bile duct adenoma extrahepatic bile duct adenoma Extrahepatic Bile Duct Adenoma NCIT:C5857 Extrahepatic Bile Duct Adenoma confirmed extrahepatic bile duct adenoma NCIT:C5857 NCIT -MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum confirmed hidradenoma papilliferum NCIT:C4171 NCIT MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma papilliferum NCIT:C4171 Hidradenoma Papilliferum confirmed hidradenoma papilliferum NCIT:C4171 NCIT +MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum confirmed hidradenoma papilliferum NCIT:C4171 NCIT MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear Cell Hidradenoma NCIT:C7567 Clear Cell Hidradenoma confirmed clear cell hidradenoma NCIT:C7567 NCIT MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear cell hidradenoma NCIT:C7567 Clear Cell Hidradenoma confirmed clear cell hidradenoma NCIT:C7567 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym spiradenoma spiradenoma Spiradenoma NCIT:C4170 Spiradenoma confirmed spiradenoma NCIT:C4170 NCIT @@ -43520,8 +42582,8 @@ MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant neoplasm of the MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of conjunctiva malignant tumor of conjunctiva Malignant Tumor of Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm confirmed malignant tumor of conjunctiva NCIT:C3564 NCIT MONDO:0003454 conjunctival cancer oio:hasExactSynonym malignant tumor of the conjunctiva malignant tumor of the conjunctiva Malignant Tumor of the Conjunctiva NCIT:C3564 Malignant Conjunctival Neoplasm confirmed malignant tumor of the conjunctiva NCIT:C3564 NCIT MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym bile duct papillomatosis bile duct papillomatosis Bile Duct Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm confirmed bile duct papillomatosis NCIT:C6881 NCIT -MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm confirmed biliary papillomatosis NCIT:C6881 NCIT MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary Papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm confirmed biliary papillomatosis NCIT:C6881 NCIT +MONDO:0003455 bile duct papillary neoplasm oio:hasExactSynonym biliary papillomatosis biliary papillomatosis Biliary papillomatosis NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm confirmed biliary papillomatosis NCIT:C6881 NCIT MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of body of uterus adenofibroma of body of uterus Adenofibroma of Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma confirmed adenofibroma of body of uterus NCIT:C6337 NCIT MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of corpus uteri adenofibroma of corpus uteri Adenofibroma of Corpus Uteri NCIT:C6337 Uterine Corpus Adenofibroma confirmed adenofibroma of corpus uteri NCIT:C6337 NCIT MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym adenofibroma of the body of uterus adenofibroma of the body of uterus Adenofibroma of the Body of Uterus NCIT:C6337 Uterine Corpus Adenofibroma confirmed adenofibroma of the body of uterus NCIT:C6337 NCIT @@ -43555,7 +42617,6 @@ MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym epithelioid synovial sarcoma epithelioid synovial sarcoma Epithelioid Synovial Sarcoma NCIT:C4278 Epithelial Synovial Sarcoma confirmed epithelioid synovial sarcoma NCIT:C4278 NCIT MONDO:0003469 epithelioid cell synovial sarcoma oio:hasExactSynonym synovial sarcoma, epithelioid cell synovial sarcoma, epithelioid cell Synovial sarcoma, epithelioid cell NCIT:C4278 Epithelial Synovial Sarcoma confirmed synovial sarcoma, epithelioid cell NCIT:C4278 NCIT MONDO:0003472 lice infestation oio:hasExactSynonym pediculosis pediculosis Pediculosis NCIT:C128401 Pediculosis confirmed pediculosis NCIT:C128401 NCIT -MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma confirmed spinal cord ependymoma NCIT:C27399 NCIT MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of spinal cord ependymoma of spinal cord Ependymoma of Spinal Cord NCIT:C3875 Spinal Cord Ependymoma confirmed ependymoma of spinal cord NCIT:C3875 NCIT MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of the spinal cord ependymoma of the spinal cord Ependymoma of the Spinal Cord NCIT:C3875 Spinal Cord Ependymoma confirmed ependymoma of the spinal cord NCIT:C3875 NCIT MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma confirmed spinal cord ependymoma NCIT:C3875 NCIT @@ -43679,8 +42740,8 @@ MONDO:0003516 adult teratoma oio:hasExactSynonym adult teratoma adult teratoma MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma confirmed mature teratoma NCIT:C9015 NCIT MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma confirmed mature teratoma NCIT:C9015 NCIT MONDO:0003518 mediastinum teratoma oio:hasExactSynonym teratoma of mediastinum teratoma of mediastinum Teratoma of Mediastinum NCIT:C6438 Mediastinal Teratoma confirmed teratoma of mediastinum NCIT:C6438 NCIT -MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed microcystic adnexal carcinoma NCIT:C7581 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic adnexal carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed microcystic adnexal carcinoma NCIT:C7581 NCIT +MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed microcystic adnexal carcinoma NCIT:C7581 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed syringomatous carcinoma NCIT:C7581 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed syringomatous carcinoma NCIT:C7581 NCIT MONDO:0003522 male orgasm disorder oio:hasExactSynonym male orgasmic disorder male orgasmic disorder Male Orgasmic Disorder NCIT:C34959 Male Orgasmic Disorder confirmed male orgasmic disorder NCIT:C34959 NCIT @@ -43721,8 +42782,6 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym p MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic leukemia/lymphoma precursor lymphoblastic leukemia/lymphoma Precursor Lymphoblastic Leukemia/Lymphoma NCIT:C7055 Precursor Lymphoid Neoplasm confirmed precursor lymphoblastic leukemia/lymphoma NCIT:C7055 NCIT MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoblastic lymphoma/leukemia precursor lymphoblastic lymphoma/leukemia Precursor Lymphoblastic Lymphoma/Leukemia NCIT:C7055 Precursor Lymphoid Neoplasm confirmed precursor lymphoblastic lymphoma/leukemia NCIT:C7055 NCIT MONDO:0003538 precursor lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor lymphoid neoplasm precursor lymphoid neoplasm Precursor Lymphoid Neoplasm NCIT:C7055 Precursor Lymphoid Neoplasm confirmed precursor lymphoid neoplasm NCIT:C7055 NCIT -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia confirmed T Acute Lymphoblastic Leukemia NCIT:C3183 NCIT -MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia confirmed T Acute Lymphoblastic Leukemia NCIT:C7953 NCIT MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia confirmed T Acute Lymphoblastic Leukemia NCIT:C9142 NCIT MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T cell adult ALL T cell adult ALL T Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia confirmed T cell adult ALL NCIT:C9142 NCIT MONDO:0003539 T-cell adult acute lymphocytic leukemia oio:hasExactSynonym T-cell adult ALL T-cell adult ALL T-Cell Adult ALL NCIT:C9142 Adult T Acute Lymphoblastic Leukemia confirmed T-cell adult ALL NCIT:C9142 NCIT @@ -43792,8 +42851,8 @@ MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym disorder of cranial MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-Rich Carcinoma NCIT:C4152 Lipid-Rich Carcinoma confirmed lipid-rich carcinoma NCIT:C4152 NCIT MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-rich carcinoma NCIT:C4152 Lipid-Rich Carcinoma confirmed lipid-rich carcinoma NCIT:C4152 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym Schmincke tumor Schmincke tumor Schmincke Tumor NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed Schmincke tumor NCIT:C4107 NCIT -MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma lymphoepithelioma Lymphoepithelioma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-like carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma-like carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-Like Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma-like carcinoma NCIT:C4107 NCIT @@ -43857,8 +42916,8 @@ MONDO:0003592 gastric liposarcoma oio:hasExactSynonym stomach liposarcoma stoma MONDO:0003593 breast liposarcoma oio:hasExactSynonym breast liposarcoma breast liposarcoma Breast Liposarcoma NCIT:C5187 Breast Liposarcoma confirmed breast liposarcoma NCIT:C5187 NCIT MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of breast liposarcoma of breast Liposarcoma of Breast NCIT:C5187 Breast Liposarcoma confirmed liposarcoma of breast NCIT:C5187 NCIT MONDO:0003593 breast liposarcoma oio:hasExactSynonym liposarcoma of the breast liposarcoma of the breast Liposarcoma of the Breast NCIT:C5187 Breast Liposarcoma confirmed liposarcoma of the breast NCIT:C5187 NCIT -MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma confirmed mixed liposarcoma NCIT:C4253 NCIT MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed Liposarcoma NCIT:C4253 Mixed Liposarcoma confirmed mixed liposarcoma NCIT:C4253 NCIT +MONDO:0003594 mixed liposarcoma oio:hasExactSynonym mixed liposarcoma mixed liposarcoma Mixed liposarcoma NCIT:C4253 Mixed Liposarcoma confirmed mixed liposarcoma NCIT:C4253 NCIT MONDO:0003596 spindle cell liposarcoma oio:hasExactSynonym spindle cell liposarcoma spindle cell liposarcoma Spindle Cell Liposarcoma NCIT:C27489 Atypical Spindle Cell/Pleomorphic Lipomatous Tumor confirmed spindle cell liposarcoma NCIT:C27489 NCIT MONDO:0003599 vulvar liposarcoma oio:hasExactSynonym vulvar liposarcoma vulvar liposarcoma Vulvar Liposarcoma NCIT:C40321 Vulvar Liposarcoma confirmed vulvar liposarcoma NCIT:C40321 NCIT MONDO:0003600 cutaneous liposarcoma oio:hasExactSynonym cutaneous liposarcoma cutaneous liposarcoma Cutaneous Liposarcoma NCIT:C5615 Skin Liposarcoma confirmed cutaneous liposarcoma NCIT:C5615 NCIT @@ -43900,8 +42959,8 @@ MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym pancreat MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of pancreas serous cystadenocarcinoma of pancreas Serous Cystadenocarcinoma of Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma confirmed serous cystadenocarcinoma of pancreas NCIT:C5724 NCIT MONDO:0003630 pancreatic serous cystadenocarcinoma oio:hasExactSynonym serous cystadenocarcinoma of the pancreas serous cystadenocarcinoma of the pancreas Serous Cystadenocarcinoma of the Pancreas NCIT:C5724 Pancreatic Serous Cystadenocarcinoma confirmed serous cystadenocarcinoma of the pancreas NCIT:C5724 NCIT MONDO:0003631 cervical serous adenocarcinoma oio:hasExactSynonym cervical serous adenocarcinoma cervical serous adenocarcinoma Cervical Serous Adenocarcinoma NCIT:C40201 Cervical Serous Adenocarcinoma confirmed cervical serous adenocarcinoma NCIT:C40201 NCIT -MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma confirmed mesenchymoma, malignant NCIT:C4268 NCIT MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant Mesenchymoma, malignant NCIT:C4268 Malignant Mesenchymoma confirmed mesenchymoma, malignant NCIT:C4268 NCIT +MONDO:0003633 malignant mesenchymoma oio:hasExactSynonym mesenchymoma, malignant mesenchymoma, malignant MESENCHYMOMA, MALIGNANT NCIT:C4268 Malignant Mesenchymoma confirmed mesenchymoma, malignant NCIT:C4268 NCIT MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym Sugar tumor Sugar tumor Sugar Tumor NCIT:C38152 Lung Clear Cell Tumor confirmed Sugar tumor NCIT:C38152 NCIT MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of lung clear cell-Sugar-tumor of lung Clear Cell-Sugar-Tumor of Lung NCIT:C38152 Lung Clear Cell Tumor confirmed clear cell-Sugar-tumor of lung NCIT:C38152 NCIT MONDO:0003637 clear cell-sugar-tumor of the lung oio:hasExactSynonym clear cell-Sugar-tumor of the lung clear cell-Sugar-tumor of the lung Clear Cell-Sugar-Tumor of the Lung NCIT:C38152 Lung Clear Cell Tumor confirmed clear cell-Sugar-tumor of the lung NCIT:C38152 NCIT @@ -44011,8 +43070,8 @@ MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondros MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondrosarcoma periosteal chondrosarcoma Periosteal Chondrosarcoma NCIT:C7357 Periosteal Chondrosarcoma confirmed periosteal chondrosarcoma NCIT:C7357 NCIT MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym chondrosarcoma, localized chondrosarcoma, localized Chondrosarcoma, Localized NCIT:C8778 Localized Chondrosarcoma confirmed chondrosarcoma, localized NCIT:C8778 NCIT MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym localized chondrosarcoma localized chondrosarcoma Localized Chondrosarcoma NCIT:C8778 Localized Chondrosarcoma confirmed localized chondrosarcoma NCIT:C8778 NCIT -MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear Cell Chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT +MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of retroperitoneum germ cell neoplasm of retroperitoneum Germ Cell Neoplasm of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell neoplasm of retroperitoneum NCIT:C6447 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of the retroperitoneum germ cell neoplasm of the retroperitoneum Germ Cell Neoplasm of the Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell neoplasm of the retroperitoneum NCIT:C6447 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell tumor of retroperitoneum germ cell tumor of retroperitoneum Germ Cell Tumor of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell tumor of retroperitoneum NCIT:C6447 NCIT @@ -44045,8 +43104,8 @@ MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym adult malignant e MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym malignant adult ependymoma malignant adult ependymoma Malignant Adult Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma confirmed malignant adult ependymoma NCIT:C8269 NCIT MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym childhood malignant mesenchymoma childhood malignant mesenchymoma Childhood Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma confirmed childhood malignant mesenchymoma NCIT:C8097 NCIT MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym adult malignant mesenchymoma adult malignant mesenchymoma Adult Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma confirmed adult malignant mesenchymoma NCIT:C7947 NCIT -MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear cell cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT +MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT MONDO:0003694 ovarian clear cell cystadenofibroma oio:hasExactSynonym ovarian clear cell cystadenofibroma ovarian clear cell cystadenofibroma Ovarian Clear Cell Cystadenofibroma NCIT:C40086 Ovarian Clear Cell Cystadenofibroma confirmed ovarian clear cell cystadenofibroma NCIT:C40086 NCIT MONDO:0003695 ovarian clear cell adenofibroma oio:hasExactSynonym ovarian clear cell adenofibroma ovarian clear cell adenofibroma Ovarian Clear Cell Adenofibroma NCIT:C40085 Ovarian Clear Cell Adenofibroma confirmed ovarian clear cell adenofibroma NCIT:C40085 NCIT MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym non-invasive penile verrucous carcinoma non-invasive penile verrucous carcinoma Non-Invasive Penile Verrucous Carcinoma NCIT:C27791 Non-Invasive Verrucous Carcinoma of the Penis confirmed non-invasive penile verrucous carcinoma NCIT:C27791 NCIT @@ -44161,7 +43220,6 @@ MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of breast fi MONDO:0003728 breast fibrosarcoma oio:hasExactSynonym fibrosarcoma of the breast fibrosarcoma of the breast Fibrosarcoma of the Breast NCIT:C5185 Breast Fibrosarcoma confirmed fibrosarcoma of the breast NCIT:C5185 NCIT MONDO:0003729 aleukemic leukemia cutis oio:hasExactSynonym aleukemic leukemia cutis aleukemic leukemia cutis Aleukemic Leukemia Cutis NCIT:C4983 Aleukemic Leukemia Cutis confirmed aleukemic leukemia cutis NCIT:C4983 NCIT MONDO:0003730 aleukemic leukemia oio:hasExactSynonym aleukemic leukemia aleukemic leukemia Aleukemic Leukemia NCIT:C4982 Aleukemic Leukemia confirmed aleukemic leukemia NCIT:C4982 NCIT -MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5441 Central Nervous System Teratoma confirmed Central nervous system teratoma NCIT:C5441 NCIT MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym Central nervous system teratoma Central nervous system teratoma Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma confirmed Central nervous system teratoma NCIT:C5794 NCIT MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult CNS teratoma adult CNS teratoma Adult CNS Teratoma NCIT:C5794 Adult Central Nervous System Teratoma confirmed adult CNS teratoma NCIT:C5794 NCIT MONDO:0003731 adult central nervous system teratoma oio:hasExactSynonym adult central nervous system teratoma adult central nervous system teratoma Adult Central Nervous System Teratoma NCIT:C5794 Adult Central Nervous System Teratoma confirmed adult central nervous system teratoma NCIT:C5794 NCIT @@ -44264,8 +43322,8 @@ MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric o MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric ovarian germ cell tumor pediatric ovarian germ cell tumor Pediatric Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor confirmed pediatric ovarian germ cell tumor NCIT:C8588 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym leptomeningeal melanoma leptomeningeal melanoma Leptomeningeal Melanoma NCIT:C5317 Meningeal Melanoma confirmed leptomeningeal melanoma NCIT:C5317 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym melanoma of the leptomeninges melanoma of the leptomeninges Melanoma of the Leptomeninges NCIT:C5317 Meningeal Melanoma confirmed melanoma of the leptomeninges NCIT:C5317 NCIT -MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal Melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT +MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal neoplasm malignant leptomeningeal neoplasm Malignant Leptomeningeal Neoplasm NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant leptomeningeal neoplasm NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal tumor malignant leptomeningeal tumor Malignant Leptomeningeal Tumor NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant leptomeningeal tumor NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant tumor of leptomeninges malignant tumor of leptomeninges Malignant Tumor of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant tumor of leptomeninges NCIT:C8506 NCIT @@ -44371,8 +43429,6 @@ MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixe MONDO:0003792 ovarian carcinosarcoma oio:hasExactSynonym ovarian malignant mixed mesodermal Müllerian tumor ovarian malignant mixed mesodermal Müllerian tumor Ovarian Malignant Mixed Mesodermal Müllerian Tumor NCIT:C9192 Ovarian Carcinosarcoma confirmed ovarian malignant mixed mesodermal Müllerian tumor NCIT:C9192 NCIT MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell cancer ovarian small cell cancer Ovarian Small Cell Cancer NCIT:C27390 Ovarian Small Cell Carcinoma confirmed ovarian small cell cancer NCIT:C27390 NCIT MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell carcinoma ovarian small cell carcinoma Ovarian Small Cell Carcinoma NCIT:C27390 Ovarian Small Cell Carcinoma confirmed ovarian small cell carcinoma NCIT:C27390 NCIT -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell NEC ovarian small cell NEC Ovarian Small Cell NEC NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type confirmed ovarian small cell NEC NCIT:C40440 NCIT -MONDO:0003795 ovarian small cell carcinoma oio:hasExactSynonym ovarian small cell neuroendocrine carcinoma ovarian small cell neuroendocrine carcinoma Ovarian Small Cell Neuroendocrine Carcinoma NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type confirmed ovarian small cell neuroendocrine carcinoma NCIT:C40440 NCIT MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of rectum Kaposi's sarcoma of rectum Kaposi's Sarcoma of Rectum NCIT:C5550 Rectal Kaposi Sarcoma confirmed Kaposi's sarcoma of rectum NCIT:C5550 NCIT MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym Kaposi's sarcoma of the rectum Kaposi's sarcoma of the rectum Kaposi's Sarcoma of the Rectum NCIT:C5550 Rectal Kaposi Sarcoma confirmed Kaposi's sarcoma of the rectum NCIT:C5550 NCIT MONDO:0003796 rectum Kaposi sarcoma oio:hasExactSynonym rectal Kaposi sarcoma rectal Kaposi sarcoma Rectal Kaposi Sarcoma NCIT:C5550 Rectal Kaposi Sarcoma confirmed rectal Kaposi sarcoma NCIT:C5550 NCIT @@ -44680,8 +43736,8 @@ MONDO:0003878 malignant choroid melanoma oio:hasExactSynonym melanoma of the ch MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid adenocarcinofibroma ovarian endometrioid adenocarcinofibroma Ovarian Endometrioid Adenocarcinofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma confirmed ovarian endometrioid adenocarcinofibroma NCIT:C40060 NCIT MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid malignant adenofibroma ovarian endometrioid malignant adenofibroma Ovarian Endometrioid Malignant Adenofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma confirmed ovarian endometrioid malignant adenofibroma NCIT:C40060 NCIT MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym carcinoma, ceruminous gland, malignant carcinoma, ceruminous gland, malignant CARCINOMA, CERUMINOUS GLAND, MALIGNANT NCIT:C4176 Ceruminous Adenocarcinoma confirmed carcinoma, ceruminous gland, malignant NCIT:C4176 NCIT -MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT +MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT MONDO:0003881 vulvar apocrine adenocarcinoma oio:hasExactSynonym vulvar apocrine adenocarcinoma vulvar apocrine adenocarcinoma Vulvar Apocrine Adenocarcinoma NCIT:C40308 Vulvar Apocrine Adenocarcinoma confirmed vulvar apocrine adenocarcinoma NCIT:C40308 NCIT MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym CNS fibrosarcoma CNS fibrosarcoma CNS Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma confirmed CNS fibrosarcoma NCIT:C5465 NCIT MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym central nervous system fibrosarcoma central nervous system fibrosarcoma Central Nervous System Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma confirmed central nervous system fibrosarcoma NCIT:C5465 NCIT @@ -44721,8 +43777,8 @@ MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocy MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of mediastinum melanocytic schwannoma of mediastinum Melanocytic Schwannoma of Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma confirmed melanocytic schwannoma of mediastinum NCIT:C6635 NCIT MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of the mediastinum melanocytic schwannoma of the mediastinum Melanocytic Schwannoma of the Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma confirmed melanocytic schwannoma of the mediastinum NCIT:C6635 NCIT MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym juxtacortical chondroblastic osteosarcoma juxtacortical chondroblastic osteosarcoma Juxtacortical Chondroblastic Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed juxtacortical chondroblastic osteosarcoma NCIT:C8970 NCIT -MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT +MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary angioma breast capillary angioma Breast Capillary Angioma NCIT:C5210 Breast Capillary Hemangioma confirmed breast capillary angioma NCIT:C5210 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary hemangioma breast capillary hemangioma Breast Capillary Hemangioma NCIT:C5210 Breast Capillary Hemangioma confirmed breast capillary hemangioma NCIT:C5210 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym capillary angioma of breast capillary angioma of breast Capillary Angioma of Breast NCIT:C5210 Breast Capillary Hemangioma confirmed capillary angioma of breast NCIT:C5210 NCIT @@ -44745,7 +43801,6 @@ MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disorders connective tissue disorders Connective Tissue Disorders NCIT:C26729 Connective Tissue Disorder confirmed connective tissue disorders NCIT:C26729 NCIT MONDO:0003900 connective tissue disorder oio:hasExactSynonym disorder of connective tissue disorder of connective tissue Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder confirmed disorder of connective tissue NCIT:C26729 NCIT MONDO:0003900 connective tissue disorder oio:hasExactSynonym primary disorder of connective tissue primary disorder of connective tissue Primary Disorder of Connective Tissue NCIT:C26729 Connective Tissue Disorder confirmed primary disorder of connective tissue NCIT:C26729 NCIT -MONDO:0003900 connective tissue disorder oio:hasExactSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder confirmed connective tissue disease NCIT:C27204 NCIT MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of cerebellum angioblastoma of cerebellum Angioblastoma of Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma confirmed angioblastoma of cerebellum NCIT:C5146 NCIT MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym angioblastoma of the cerebellum angioblastoma of the cerebellum Angioblastoma of the Cerebellum NCIT:C5146 Cerebellar Hemangioblastoma confirmed angioblastoma of the cerebellum NCIT:C5146 NCIT MONDO:0003901 cerebellar hemangioblastoma oio:hasExactSynonym cerebellar angioblastoma cerebellar angioblastoma Cerebellar Angioblastoma NCIT:C5146 Cerebellar Hemangioblastoma confirmed cerebellar angioblastoma NCIT:C5146 NCIT @@ -44907,7 +43962,6 @@ MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of adult central nervous system choriocarcinoma of adult central nervous system Choriocarcinoma of Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma confirmed choriocarcinoma of adult central nervous system NCIT:C5793 NCIT MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult CNS choriocarcinoma of the adult CNS Choriocarcinoma of the Adult CNS NCIT:C5793 Adult Central Nervous System Choriocarcinoma confirmed choriocarcinoma of the adult CNS NCIT:C5793 NCIT MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym choriocarcinoma of the adult central nervous system choriocarcinoma of the adult central nervous system Choriocarcinoma of the Adult Central Nervous System NCIT:C5793 Adult Central Nervous System Choriocarcinoma confirmed choriocarcinoma of the adult central nervous system NCIT:C5793 NCIT -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma confirmed Central nervous system choriocarcinoma NCIT:C5793 NCIT MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed Central nervous system choriocarcinoma NCIT:C6206 NCIT MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood CNS choriocarcinoma childhood CNS choriocarcinoma Childhood CNS Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed childhood CNS choriocarcinoma NCIT:C6206 NCIT MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym childhood central nervous system choriocarcinoma childhood central nervous system choriocarcinoma Childhood Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed childhood central nervous system choriocarcinoma NCIT:C6206 NCIT @@ -44920,7 +43974,6 @@ MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric CNS choriocarcinoma of the pediatric CNS Choriocarcinoma of the Pediatric CNS NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed choriocarcinoma of the pediatric CNS NCIT:C6206 NCIT MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym choriocarcinoma of the pediatric central nervous system choriocarcinoma of the pediatric central nervous system Choriocarcinoma of the Pediatric Central Nervous System NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed choriocarcinoma of the pediatric central nervous system NCIT:C6206 NCIT MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym pediatric central nervous system choriocarcinoma pediatric central nervous system choriocarcinoma Pediatric Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed pediatric central nervous system choriocarcinoma NCIT:C6206 NCIT -MONDO:0003953 pediatric CNS choriocarcinoma oio:hasExactSynonym Central nervous system choriocarcinoma Central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma confirmed Central nervous system choriocarcinoma NCIT:C7012 NCIT MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym Swiss cheese disease Swiss cheese disease Swiss Cheese Disease NCIT:C9503 Juvenile Breast Papillomatosis confirmed Swiss cheese disease NCIT:C9503 NCIT MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile breast papillomatosis juvenile breast papillomatosis Juvenile Breast Papillomatosis NCIT:C9503 Juvenile Breast Papillomatosis confirmed juvenile breast papillomatosis NCIT:C9503 NCIT MONDO:0003955 juvenile breast papillomatosis oio:hasExactSynonym juvenile papillomatosis of breast juvenile papillomatosis of breast Juvenile Papillomatosis of Breast NCIT:C9503 Juvenile Breast Papillomatosis confirmed juvenile papillomatosis of breast NCIT:C9503 NCIT @@ -44946,7 +43999,6 @@ MONDO:0003962 Froelich syndrome oio:hasExactSynonym Launois-Cleret syndrome Lau MONDO:0003962 Froelich syndrome oio:hasExactSynonym dystrophia Adiposogenitalis dystrophia Adiposogenitalis Dystrophia Adiposogenitalis NCIT:C34625 Frohlich Syndrome confirmed dystrophia Adiposogenitalis NCIT:C34625 NCIT MONDO:0003962 Froelich syndrome oio:hasExactSynonym hypothalamic infantilism-obesity hypothalamic infantilism-obesity Hypothalamic Infantilism-Obesity NCIT:C34625 Frohlich Syndrome confirmed hypothalamic infantilism-obesity NCIT:C34625 NCIT MONDO:0003962 Froelich syndrome oio:hasExactSynonym sexual infantilism sexual infantilism Sexual Infantilism NCIT:C34625 Frohlich Syndrome confirmed sexual infantilism NCIT:C34625 NCIT -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva confirmed myositis ossificans progressiva NCIT:C3040 NCIT MONDO:0003967 synchronous multifocal osteogenic sarcoma oio:hasExactSynonym synchronous multifocal osteosarcoma synchronous multifocal osteosarcoma Synchronous Multifocal Osteosarcoma NCIT:C6471 Synchronous Multifocal Osteosarcoma confirmed synchronous multifocal osteosarcoma NCIT:C6471 NCIT MONDO:0003968 asynchronous multifocal osteogenic sarcoma oio:hasExactSynonym asynchronous multifocal osteosarcoma asynchronous multifocal osteosarcoma Asynchronous Multifocal Osteosarcoma NCIT:C6472 Asynchronous Multifocal Osteosarcoma confirmed asynchronous multifocal osteosarcoma NCIT:C6472 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym carcinoma of fundus of stomach carcinoma of fundus of stomach Carcinoma of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma confirmed carcinoma of fundus of stomach NCIT:C8398 NCIT @@ -45281,8 +44333,8 @@ MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed malignant melanocytic peripheral nerve sheath tumor of mediastinum NCIT:C6630 NCIT MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanotic peripheral nerve sheath tumor of the mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed malignant melanotic peripheral nerve sheath tumor of the mediastinum NCIT:C6630 NCIT MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym mediastinal melanocytic MPNST mediastinal melanocytic MPNST Mediastinal Melanocytic MPNST NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed mediastinal melanocytic MPNST NCIT:C6630 NCIT -MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult cystic teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT +MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym combined small cell and squamous cell lung carcinoma combined small cell and squamous cell lung carcinoma Combined Small Cell and Squamous Cell Lung Carcinoma NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed combined small cell and squamous cell lung carcinoma NCIT:C9423 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym mixed small cell and squamous cell carcinoma of the lung mixed small cell and squamous cell carcinoma of the lung Mixed Small Cell and Squamous Cell Carcinoma of the Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed mixed small cell and squamous cell carcinoma of the lung NCIT:C9423 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym small cell and squamous cell carcinoma of lung small cell and squamous cell carcinoma of lung Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed small cell and squamous cell carcinoma of lung NCIT:C9423 NCIT @@ -45373,8 +44425,8 @@ MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal Buschke-Lowenst MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal giant (malignant) condyloma anal giant (malignant) condyloma Anal Giant (Malignant) Condyloma NCIT:C7470 Anal Verrucous Carcinoma confirmed anal giant (malignant) condyloma NCIT:C7470 NCIT MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal verrucous carcinoma anal verrucous carcinoma Anal Verrucous Carcinoma NCIT:C7470 Anal Verrucous Carcinoma confirmed anal verrucous carcinoma NCIT:C7470 NCIT MONDO:0004132 anal canal squamous cell carcinoma oio:hasExactSynonym anal canal squamous cell carcinoma anal canal squamous cell carcinoma Anal Canal Squamous Cell Carcinoma NCIT:C7469 Anal Canal Squamous Cell Carcinoma confirmed anal canal squamous cell carcinoma NCIT:C7469 NCIT -MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT +MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym pituitary gland mixed acidophil-basophil adenoma pituitary gland mixed acidophil-basophil adenoma Pituitary Gland Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed pituitary gland mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign dermal schwannoma benign dermal schwannoma Benign Dermal Schwannoma NCIT:C5569 Cutaneous Schwannoma confirmed benign dermal schwannoma NCIT:C5569 NCIT MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign neurilemmoma of skin benign neurilemmoma of skin Benign Neurilemmoma of Skin NCIT:C5569 Cutaneous Schwannoma confirmed benign neurilemmoma of skin NCIT:C5569 NCIT @@ -45397,8 +44449,8 @@ MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSyno MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic Meningioma NCIT:C4330 Fibrous Meningioma confirmed fibroblastic meningioma NCIT:C4330 NCIT MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic meningioma NCIT:C4330 Fibrous Meningioma confirmed fibroblastic meningioma NCIT:C4330 NCIT MONDO:0004145 meningothelial meningioma oio:hasExactSynonym Meningotheliomatous meningioma Meningotheliomatous meningioma Meningotheliomatous Meningioma NCIT:C4329 Meningothelial Meningioma confirmed Meningotheliomatous meningioma NCIT:C4329 NCIT -MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed Meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT +MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT MONDO:0004146 transitional meningioma oio:hasExactSynonym transitional (mixed) meningioma transitional (mixed) meningioma Transitional (Mixed) Meningioma NCIT:C4333 Transitional Meningioma confirmed transitional (mixed) meningioma NCIT:C4333 NCIT MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym malignant thymoma, noninvasive malignant thymoma, noninvasive Malignant Thymoma, Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma confirmed malignant thymoma, noninvasive NCIT:C9080 NCIT MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym thymoma malignant noninvasive thymoma malignant noninvasive Thymoma Malignant Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma confirmed thymoma malignant noninvasive NCIT:C9080 NCIT @@ -45409,8 +44461,8 @@ MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcino MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma oio:hasExactSynonym papillary carcinoma of the gallbladder papillary carcinoma of the gallbladder Papillary Carcinoma of the Gallbladder NCIT:C5743 Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma confirmed papillary carcinoma of the gallbladder NCIT:C5743 NCIT MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym breast giant fibroadenoma breast giant fibroadenoma Breast Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma confirmed breast giant fibroadenoma NCIT:C4273 NCIT MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant breast fibroadenoma giant breast fibroadenoma Giant Breast Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma confirmed giant breast fibroadenoma NCIT:C4273 NCIT -MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma confirmed giant fibroadenoma NCIT:C4273 NCIT MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant Fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma confirmed giant fibroadenoma NCIT:C4273 NCIT +MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma giant fibroadenoma Giant fibroadenoma NCIT:C4273 Breast Giant Fibroadenoma confirmed giant fibroadenoma NCIT:C4273 NCIT MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of breast giant fibroadenoma of breast Giant Fibroadenoma of Breast NCIT:C4273 Breast Giant Fibroadenoma confirmed giant fibroadenoma of breast NCIT:C4273 NCIT MONDO:0004150 breast giant fibroadenoma oio:hasExactSynonym giant fibroadenoma of the breast giant fibroadenoma of the breast Giant Fibroadenoma of the Breast NCIT:C4273 Breast Giant Fibroadenoma confirmed giant fibroadenoma of the breast NCIT:C4273 NCIT MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation oio:hasExactSynonym CLL/SLL with IGVH SHM NCIT:C37201 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation confirmed CLL/SLL with IGVH SHM NCIT:C37201 NCIT @@ -45434,7 +44486,6 @@ MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynon MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of adult central nervous system embryonal carcinoma of adult central nervous system Embryonal Carcinoma of Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of adult central nervous system NCIT:C5790 NCIT MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult CNS embryonal carcinoma of the adult CNS Embryonal Carcinoma of the Adult CNS NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of the adult CNS NCIT:C5790 NCIT MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the adult central nervous system embryonal carcinoma of the adult central nervous system Embryonal Carcinoma of the Adult Central Nervous System NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of the adult central nervous system NCIT:C5790 NCIT -MONDO:0004155 adult central nervous system embryonal carcinoma oio:hasExactSynonym Central nervous system embryonal carcinoma Central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed Central nervous system embryonal carcinoma NCIT:C7010 NCIT MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of pancreas colloid Cystadencarcinoma of pancreas Colloid Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma confirmed colloid Cystadencarcinoma of pancreas NCIT:C5713 NCIT MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloid Cystadencarcinoma of the pancreas colloid Cystadencarcinoma of the pancreas Colloid Cystadencarcinoma of the Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma confirmed colloid Cystadencarcinoma of the pancreas NCIT:C5713 NCIT MONDO:0004156 pancreatic mucinous cystadenocarcinoma oio:hasExactSynonym colloidal Cystadencarcinoma of pancreas colloidal Cystadencarcinoma of pancreas Colloidal Cystadencarcinoma of Pancreas NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma confirmed colloidal Cystadencarcinoma of pancreas NCIT:C5713 NCIT @@ -45584,8 +44635,8 @@ MONDO:0004223 polyp of middle ear oio:hasExactSynonym middle ear polyp middle e MONDO:0004223 polyp of middle ear oio:hasExactSynonym polyp of the middle ear polyp of the middle ear Polyp of the Middle Ear NCIT:C6933 Middle Ear Polyp confirmed polyp of the middle ear NCIT:C6933 NCIT MONDO:0004224 chronic metabolic polyneuropathy oio:hasExactSynonym chronic metabolic polyneuropathy chronic metabolic polyneuropathy Chronic Metabolic Polyneuropathy NCIT:C35602 Chronic Metabolic Polyneuropathy confirmed chronic metabolic polyneuropathy NCIT:C35602 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy Of undetermined significance (MGUS) monoclonal gammopathy Of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy Of undetermined significance (MGUS) NCIT:C3996 NCIT -MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance NCIT:C3996 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal gammopathy of undetermined significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance NCIT:C3996 NCIT +MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal Gammopathy of Undetermined Significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance NCIT:C3996 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance (MGUS) NCIT:C3996 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym MGUS NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MGUS NCIT:C3996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse intraductal papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis confirmed diffuse intraductal papillomatosis NCIT:C7364 NCIT @@ -45599,7 +44650,6 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym adenomatoid tumor, benign a MONDO:0004230 adenomatoid tumor oio:hasExactSynonym benign localized epithelial mesothelioma benign localized epithelial mesothelioma Benign Localized Epithelial Mesothelioma NCIT:C3762 Adenomatoid Tumor confirmed benign localized epithelial mesothelioma NCIT:C3762 NCIT MONDO:0004231 spindle cell variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, spindle cell variant squamous cell breast carcinoma, spindle cell variant Squamous Cell Breast Carcinoma, Spindle Cell Variant NCIT:C40358 Breast Squamous Cell Carcinoma, Spindle Cell Variant confirmed squamous cell breast carcinoma, spindle cell variant NCIT:C40358 NCIT MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma, large cell keratinizing variant squamous cell breast carcinoma, large cell keratinizing variant Squamous Cell Breast Carcinoma, Large Cell Keratinizing Variant NCIT:C40357 Breast Squamous Cell Carcinoma, Large Cell Keratinizing Variant confirmed squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357 NCIT -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma confirmed Pleomorphic rhabdomyosarcoma NCIT:C4258 NCIT MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma confirmed Pleomorphic rhabdomyosarcoma NCIT:C7959 NCIT MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym childhood anaplastic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma Childhood Anaplastic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma confirmed childhood anaplastic rhabdomyosarcoma NCIT:C7959 NCIT MONDO:0004233 childhood pleomorphic rhabdomyosarcoma oio:hasExactSynonym pediatric pleomorphic rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma Pediatric Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma confirmed pediatric pleomorphic rhabdomyosarcoma NCIT:C7959 NCIT @@ -45666,9 +44716,7 @@ MONDO:0004255 Wolffian adnexal tumor oio:hasExactSynonym Wolffian adnexal tumor MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym lumbar intraspinal meningioma lumbar intraspinal meningioma Lumbar Intraspinal Meningioma NCIT:C5298 Lumbar Intraspinal Meningioma confirmed lumbar intraspinal meningioma NCIT:C5298 NCIT MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of lumbar spinal canal and spinal cord meningioma of lumbar spinal canal and spinal cord Meningioma of Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma confirmed meningioma of lumbar spinal canal and spinal cord NCIT:C5298 NCIT MONDO:0004256 lumbar spinal canal and spinal cord meningioma oio:hasExactSynonym meningioma of the lumbar spinal canal and spinal cord meningioma of the lumbar spinal canal and spinal cord Meningioma of the Lumbar Spinal Canal and Spinal Cord NCIT:C5298 Lumbar Intraspinal Meningioma confirmed meningioma of the lumbar spinal canal and spinal cord NCIT:C5298 NCIT -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor confirmed Central nervous system Mixed germ cell tumor NCIT:C27402 NCIT MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor confirmed Central nervous system Mixed germ cell tumor NCIT:C27403 NCIT -MONDO:0004257 childhood central nervous system mixed germ cell tumor oio:hasExactSynonym Central nervous system Mixed germ cell tumor Central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor confirmed Central nervous system Mixed germ cell tumor NCIT:C7016 NCIT MONDO:0004258 female orgasmic disorder oio:hasExactSynonym female orgasmic disorder female orgasmic disorder Female Orgasmic Disorder NCIT:C34958 Female Orgasmic Disorder confirmed female orgasmic disorder NCIT:C34958 NCIT MONDO:0004261 periductal breast myoepitheliosis oio:hasExactSynonym periductal breast myoepitheliosis periductal breast myoepitheliosis Periductal Breast Myoepitheliosis NCIT:C40388 Breast Periductal Myoepitheliosis confirmed periductal breast myoepitheliosis NCIT:C40388 NCIT MONDO:0004262 breast myoepitheliosis oio:hasExactSynonym breast myoepitheliosis breast myoepitheliosis Breast Myoepitheliosis NCIT:C40385 Breast Myoepitheliosis confirmed breast myoepitheliosis NCIT:C40385 NCIT @@ -45677,8 +44725,8 @@ MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym chi MONDO:0004263 pediatric infratentorial ependymoblastoma oio:hasExactSynonym pediatric infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma Pediatric Infratentorial Ependymoblastoma NCIT:C6773 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered confirmed pediatric infratentorial ependymoblastoma NCIT:C6773 NCIT MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of the anal gland adenocarcinoma of the anal gland Adenocarcinoma of the Anal Gland NCIT:C5609 Anal Glands Adenocarcinoma confirmed adenocarcinoma of the anal gland NCIT:C5609 NCIT MONDO:0004266 anal gland adenocarcinoma oio:hasExactSynonym anal glands adenocarcinoma anal glands adenocarcinoma Anal Glands Adenocarcinoma NCIT:C5609 Anal Glands Adenocarcinoma confirmed anal glands adenocarcinoma NCIT:C5609 NCIT -MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis confirmed squamous papillomatosis NCIT:C9009 NCIT MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous Papillomatosis NCIT:C9009 Squamous Papillomatosis confirmed squamous papillomatosis NCIT:C9009 NCIT +MONDO:0004267 squamous papillomatosis oio:hasExactSynonym squamous papillomatosis squamous papillomatosis Squamous papillomatosis NCIT:C9009 Squamous Papillomatosis confirmed squamous papillomatosis NCIT:C9009 NCIT MONDO:0004270 breast ductal adenoma oio:hasExactSynonym breast ductal adenoma breast ductal adenoma Breast Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma confirmed breast ductal adenoma NCIT:C40384 NCIT MONDO:0004270 breast ductal adenoma oio:hasExactSynonym ductal adenoma ductal adenoma Ductal Adenoma NCIT:C40384 Breast Ductal Adenoma confirmed ductal adenoma NCIT:C40384 NCIT MONDO:0004271 pregnancy adenoma oio:hasExactSynonym Lactating adenoma Lactating adenoma Lactating Adenoma NCIT:C9473 Lactating Adenoma confirmed Lactating adenoma NCIT:C9473 NCIT @@ -45693,8 +44741,8 @@ MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym os MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osseous Paget's disease osteosarcoma arising in osseous Paget's disease Osteosarcoma Arising in Osseous Paget's Disease NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone confirmed osteosarcoma arising in osseous Paget's disease NCIT:C6469 NCIT MONDO:0004275 osteosarcoma arising in bone Paget disease oio:hasExactSynonym osteosarcoma arising in osteitis deformans osteosarcoma arising in osteitis deformans Osteosarcoma Arising in Osteitis Deformans NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone confirmed osteosarcoma arising in osteitis deformans NCIT:C6469 NCIT MONDO:0004276 ceruminoma oio:hasExactSynonym adenoma, ceruminous gland, benign adenoma, ceruminous gland, benign ADENOMA, CERUMINOUS GLAND, BENIGN NCIT:C6088 Ceruminous Adenoma confirmed adenoma, ceruminous gland, benign NCIT:C6088 NCIT -MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma confirmed ceruminous adenoma NCIT:C6088 NCIT MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma confirmed ceruminous adenoma NCIT:C6088 NCIT +MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma ceruminous adenoma Ceruminous adenoma NCIT:C6088 Ceruminous Adenoma confirmed ceruminous adenoma NCIT:C6088 NCIT MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of external auditory canal ceruminous adenoma of external auditory canal Ceruminous Adenoma of External Auditory Canal NCIT:C6088 Ceruminous Adenoma confirmed ceruminous adenoma of external auditory canal NCIT:C6088 NCIT MONDO:0004276 ceruminoma oio:hasExactSynonym ceruminous adenoma of the external auditory canal ceruminous adenoma of the external auditory canal Ceruminous Adenoma of the External Auditory Canal NCIT:C6088 Ceruminous Adenoma confirmed ceruminous adenoma of the external auditory canal NCIT:C6088 NCIT MONDO:0004276 ceruminoma oio:hasExactSynonym external auditory canal ceruminous adenoma external auditory canal ceruminous adenoma External Auditory Canal Ceruminous Adenoma NCIT:C6088 Ceruminous Adenoma confirmed external auditory canal ceruminous adenoma NCIT:C6088 NCIT @@ -45756,12 +44804,12 @@ MONDO:0004297 lymphoepithelioma-like thymic carcinoma oio:hasExactSynonym thymi MONDO:0004298 stomach disorder oio:hasExactSynonym stomach disorder stomach disorder Stomach Disorder NCIT:C26886 Stomach Disorder confirmed stomach disorder NCIT:C26886 NCIT MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma oio:hasExactSynonym infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder lymphoepithelioma-like carcinoma Infiltrating Bladder Lymphoepithelioma-Like Carcinoma NCIT:C39821 Invasive Bladder Lymphoepithelioma-Like Carcinoma confirmed infiltrating bladder lymphoepithelioma-like carcinoma NCIT:C39821 NCIT MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteogenic sarcoma fibroblastic osteogenic sarcoma Fibroblastic Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibroblastic osteogenic sarcoma NCIT:C4020 NCIT -MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibroblastic osteosarcoma NCIT:C4020 NCIT MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibroblastic osteosarcoma NCIT:C4020 NCIT +MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibroblastic osteosarcoma fibroblastic osteosarcoma Fibroblastic osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibroblastic osteosarcoma NCIT:C4020 NCIT MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteogenic sarcoma fibrosarcomatous osteogenic sarcoma Fibrosarcomatous Osteogenic Sarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibrosarcomatous osteogenic sarcoma NCIT:C4020 NCIT MONDO:0004301 fibrosarcomatous osteosarcoma oio:hasExactSynonym fibrosarcomatous osteosarcoma fibrosarcomatous osteosarcoma Fibrosarcomatous Osteosarcoma NCIT:C4020 Fibroblastic Osteosarcoma confirmed fibrosarcomatous osteosarcoma NCIT:C4020 NCIT -MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma NCIT:C4154 NCIT MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief Cell Adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma NCIT:C4154 NCIT +MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma chief cell adenoma Chief cell adenoma NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma NCIT:C4154 NCIT MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid chief cell adenoma of parathyroid Chief Cell Adenoma of Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma of parathyroid NCIT:C4154 NCIT MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of parathyroid gland chief cell adenoma of parathyroid gland Chief Cell Adenoma of Parathyroid Gland NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma of parathyroid gland NCIT:C4154 NCIT MONDO:0004302 chief cell adenoma oio:hasExactSynonym chief cell adenoma of the parathyroid chief cell adenoma of the parathyroid Chief Cell Adenoma of the Parathyroid NCIT:C4154 Parathyroid Gland Chief Cell Adenoma confirmed chief cell adenoma of the parathyroid NCIT:C4154 NCIT @@ -45790,13 +44838,13 @@ MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid gla MONDO:0004305 parathyroid oncocytic adenoma oio:hasExactSynonym parathyroid oncocytic adenoma parathyroid oncocytic adenoma Parathyroid Oncocytic Adenoma NCIT:C27393 Parathyroid Gland Oncocytic Adenoma confirmed parathyroid oncocytic adenoma NCIT:C27393 NCIT MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood conventional osteosarcoma childhood conventional osteosarcoma Childhood Conventional Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma confirmed childhood conventional osteosarcoma NCIT:C6590 NCIT MONDO:0004306 childhood intracortical osteosarcoma oio:hasExactSynonym childhood intracortical osteosarcoma childhood intracortical osteosarcoma Childhood Intracortical Osteosarcoma NCIT:C6590 Childhood Conventional Osteosarcoma confirmed childhood intracortical osteosarcoma NCIT:C6590 NCIT -MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis confirmed meningeal sarcomatosis NCIT:C4334 NCIT MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis confirmed meningeal sarcomatosis NCIT:C4334 NCIT +MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meningeal sarcomatosis meningeal sarcomatosis Meningeal sarcomatosis NCIT:C4334 Meningeal Sarcomatosis confirmed meningeal sarcomatosis NCIT:C4334 NCIT MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym meninges sarcomatosis meninges sarcomatosis Meninges Sarcomatosis NCIT:C4334 Meningeal Sarcomatosis confirmed meninges sarcomatosis NCIT:C4334 NCIT MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of meninges sarcomatosis of meninges Sarcomatosis of Meninges NCIT:C4334 Meningeal Sarcomatosis confirmed sarcomatosis of meninges NCIT:C4334 NCIT MONDO:0004307 sarcomatosis of the meninges oio:hasExactSynonym sarcomatosis of the meninges sarcomatosis of the meninges Sarcomatosis of the Meninges NCIT:C4334 Meningeal Sarcomatosis confirmed sarcomatosis of the meninges NCIT:C4334 NCIT -MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma confirmed meningeal sarcoma NCIT:C4073 NCIT MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal sarcoma NCIT:C4073 Meningeal Sarcoma confirmed meningeal sarcoma NCIT:C4073 NCIT +MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meningeal sarcoma meningeal sarcoma Meningeal Sarcoma NCIT:C4073 Meningeal Sarcoma confirmed meningeal sarcoma NCIT:C4073 NCIT MONDO:0004308 meningeal sarcoma oio:hasExactSynonym meninges sarcoma meninges sarcoma Meninges Sarcoma NCIT:C4073 Meningeal Sarcoma confirmed meninges sarcoma NCIT:C4073 NCIT MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of meninges sarcoma of meninges Sarcoma of Meninges NCIT:C4073 Meningeal Sarcoma confirmed sarcoma of meninges NCIT:C4073 NCIT MONDO:0004308 meningeal sarcoma oio:hasExactSynonym sarcoma of the meninges sarcoma of the meninges Sarcoma of the Meninges NCIT:C4073 Meningeal Sarcoma confirmed sarcoma of the meninges NCIT:C4073 NCIT @@ -45834,8 +44882,8 @@ MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym maxillary sinu MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia NCIT:C41251 NCIT MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia NCIT:C41251 NCIT MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic non-invasive intraductal papillary-mucinous carcinoma pancreatic non-invasive intraductal papillary-mucinous carcinoma Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic non-invasive intraductal papillary-mucinous carcinoma NCIT:C41251 NCIT -MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT +MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of leptomeninges sarcoma of leptomeninges Sarcoma of Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma of leptomeninges NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of the leptomeninges sarcoma of the leptomeninges Sarcoma of the Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma of the leptomeninges NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma, leptomeningeal, malignant sarcoma, leptomeningeal, malignant SARCOMA, LEPTOMENINGEAL, MALIGNANT NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma, leptomeningeal, malignant NCIT:C8312 NCIT @@ -45890,8 +44938,8 @@ MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym colloid carcinoma of the pancreas colloid carcinoma of the pancreas Colloid Carcinoma of the Pancreas NCIT:C37214 Pancreatic Colloid Carcinoma confirmed colloid carcinoma of the pancreas NCIT:C37214 NCIT MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym mucinous Noncystic carcinoma mucinous Noncystic carcinoma Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma confirmed mucinous Noncystic carcinoma NCIT:C37214 NCIT MONDO:0004341 colloid carcinoma of the pancreas oio:hasExactSynonym pancreatic mucinous Noncystic carcinoma pancreatic mucinous Noncystic carcinoma Pancreatic Mucinous Noncystic Carcinoma NCIT:C37214 Pancreatic Colloid Carcinoma confirmed pancreatic mucinous Noncystic carcinoma NCIT:C37214 NCIT -MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed acinar cell cystadenocarcinoma NCIT:C5727 NCIT MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed acinar cell cystadenocarcinoma NCIT:C5727 NCIT +MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma Acinar cell cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed acinar cell cystadenocarcinoma NCIT:C5727 NCIT MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of pancreas acinar cell cystadenocarcinoma of pancreas Acinar Cell Cystadenocarcinoma of Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed acinar cell cystadenocarcinoma of pancreas NCIT:C5727 NCIT MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym acinar cell cystadenocarcinoma of the pancreas acinar cell cystadenocarcinoma of the pancreas Acinar Cell Cystadenocarcinoma of the Pancreas NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed acinar cell cystadenocarcinoma of the pancreas NCIT:C5727 NCIT MONDO:0004343 pancreatic acinar cell cystadenocarcinoma oio:hasExactSynonym pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma Pancreatic Acinar Cell Cystadenocarcinoma NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma confirmed pancreatic acinar cell cystadenocarcinoma NCIT:C5727 NCIT @@ -46194,7 +45242,6 @@ MONDO:0004468 anal canal Paget disease oio:hasExactSynonym anal canal Paget's d MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym pseudovascular skin squamous cell carcinoma pseudovascular skin squamous cell carcinoma Pseudovascular Skin Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma confirmed pseudovascular skin squamous cell carcinoma NCIT:C27542 NCIT MONDO:0004471 bacterial arthritis oio:hasExactSynonym pyogenic arthritis pyogenic arthritis Pyogenic Arthritis NCIT:C26699 Bacterial Arthritis confirmed pyogenic arthritis NCIT:C26699 NCIT MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis confirmed septic arthritis NCIT:C26699 NCIT -MONDO:0004471 bacterial arthritis oio:hasExactSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis confirmed septic arthritis NCIT:C26700 NCIT MONDO:0004472 breast columnar cell mucinous carcinoma oio:hasExactSynonym breast columnar cell mucinous carcinoma breast columnar cell mucinous carcinoma Breast Columnar Cell Mucinous Carcinoma NCIT:C40355 Breast Columnar Cell Mucinous Carcinoma confirmed breast columnar cell mucinous carcinoma NCIT:C40355 NCIT MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic cancer epiglottic cancer Epiglottic Cancer NCIT:C35697 Epiglottic Carcinoma confirmed epiglottic cancer NCIT:C35697 NCIT MONDO:0004473 epiglottis cancer oio:hasExactSynonym epiglottic throat cancer epiglottic throat cancer Epiglottic Throat Cancer NCIT:C35697 Epiglottic Carcinoma confirmed epiglottic throat cancer NCIT:C35697 NCIT @@ -46268,12 +45315,12 @@ MONDO:0004507 atypical breast papilloma oio:hasExactSynonym atypical breast pap MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillary neoplasm intrahepatic bile duct papillary neoplasm Intrahepatic Bile Duct Papillary Neoplasm NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm confirmed intrahepatic bile duct papillary neoplasm NCIT:C7125 NCIT MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic bile duct papillomatosis intrahepatic bile duct papillomatosis Intrahepatic Bile Duct Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm confirmed intrahepatic bile duct papillomatosis NCIT:C7125 NCIT MONDO:0004509 intrahepatic biliary papillomatosis oio:hasExactSynonym intrahepatic biliary papillomatosis intrahepatic biliary papillomatosis Intrahepatic Biliary Papillomatosis NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm confirmed intrahepatic biliary papillomatosis NCIT:C7125 NCIT -MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma confirmed inflammatory liposarcoma NCIT:C6508 NCIT MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma confirmed inflammatory liposarcoma NCIT:C6508 NCIT +MONDO:0004510 inflammatory liposarcoma oio:hasExactSynonym inflammatory liposarcoma inflammatory liposarcoma Inflammatory Liposarcoma NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma confirmed inflammatory liposarcoma NCIT:C6508 NCIT MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of Lower clivus meningioma of Lower clivus Meningioma of Lower Clivus NCIT:C5288 Lower Clivus Meningioma confirmed meningioma of Lower clivus NCIT:C5288 NCIT MONDO:0004511 lower clivus meningioma oio:hasExactSynonym meningioma of the lower clivus meningioma of the lower clivus Meningioma of the Lower Clivus NCIT:C5288 Lower Clivus Meningioma confirmed meningioma of the lower clivus NCIT:C5288 NCIT -MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis confirmed meningeal melanomatosis NCIT:C6891 NCIT MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal melanomatosis NCIT:C6891 Meningeal Melanomatosis confirmed meningeal melanomatosis NCIT:C6891 NCIT +MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym meningeal melanomatosis meningeal melanomatosis Meningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis confirmed meningeal melanomatosis NCIT:C6891 NCIT MONDO:0004513 adult pleomorphic rhabdomyosarcoma oio:hasExactSynonym adult pleomorphic rhabdomyosarcoma adult pleomorphic rhabdomyosarcoma Adult Pleomorphic Rhabdomyosarcoma NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma confirmed adult pleomorphic rhabdomyosarcoma NCIT:C27369 NCIT MONDO:0004516 bulbomembranous urethral cancer oio:hasExactSynonym bulbomembranous urethral malignant neoplasm bulbomembranous urethral malignant neoplasm Bulbomembranous Urethral Malignant Neoplasm NCIT:C39869 Bulbomembranous Urethral Malignant Neoplasm confirmed bulbomembranous urethral malignant neoplasm NCIT:C39869 NCIT MONDO:0004518 anterior urethra cancer oio:hasExactSynonym anterior urethra malignant neoplasm anterior urethra malignant neoplasm Anterior Urethra Malignant Neoplasm NCIT:C7641 Anterior Urethral Malignant Neoplasm confirmed anterior urethra malignant neoplasm NCIT:C7641 NCIT @@ -46293,8 +45340,8 @@ MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym adult epithelioid s MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of skin clear cell squamous cell carcinoma of skin Clear Cell Squamous Cell Carcinoma of Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma confirmed clear cell squamous cell carcinoma of skin NCIT:C4459 NCIT MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell carcinoma of the skin clear cell squamous cell carcinoma of the skin Clear Cell Squamous Cell Carcinoma of the Skin NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma confirmed clear cell squamous cell carcinoma of the skin NCIT:C4459 NCIT MONDO:0004523 clear cell squamous cell skin carcinoma oio:hasExactSynonym clear cell squamous cell skin carcinoma clear cell squamous cell skin carcinoma Clear Cell Squamous Cell Skin Carcinoma NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma confirmed clear cell squamous cell skin carcinoma NCIT:C4459 NCIT -MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential confirmed atypical follicular adenoma NCIT:C27729 NCIT MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical follicular adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential confirmed atypical follicular adenoma NCIT:C27729 NCIT +MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym atypical follicular adenoma atypical follicular adenoma Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential confirmed atypical follicular adenoma NCIT:C27729 NCIT MONDO:0004524 thyroid gland atypical follicular adenoma oio:hasExactSynonym thyroid gland atypical follicular adenoma thyroid gland atypical follicular adenoma Thyroid Gland Atypical Follicular Adenoma NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential confirmed thyroid gland atypical follicular adenoma NCIT:C27729 NCIT MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym Stromomyoma NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm confirmed Stromomyoma NCIT:C40178 NCIT MONDO:0004526 mixed endometrial stromal and smooth muscle tumor oio:hasExactSynonym mixed endometrial stromal and smooth muscle neoplasm mixed endometrial stromal and smooth muscle neoplasm Mixed Endometrial Stromal and Smooth Muscle Neoplasm NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm confirmed mixed endometrial stromal and smooth muscle neoplasm NCIT:C40178 NCIT @@ -46325,8 +45372,8 @@ MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant neoplasm of MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of aorta malignant tumor of aorta Malignant Tumor of Aorta NCIT:C5375 Malignant Aortic Neoplasm confirmed malignant tumor of aorta NCIT:C5375 NCIT MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of the aorta malignant tumor of the aorta Malignant Tumor of the Aorta NCIT:C5375 Malignant Aortic Neoplasm confirmed malignant tumor of the aorta NCIT:C5375 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid MPNST epithelioid MPNST Epithelioid MPNST NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid MPNST NCIT:C6561 NCIT -MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid Malignant Peripheral Nerve Sheath Tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT +MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of peripheral nerve sheath malignant epithelioid neoplasm of peripheral nerve sheath Malignant Epithelioid Neoplasm of Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid neoplasm of peripheral nerve sheath NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of the peripheral nerve sheath malignant epithelioid neoplasm of the peripheral nerve sheath Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid neoplasm of the peripheral nerve sheath NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid peripheral nerve sheath neoplasm malignant epithelioid peripheral nerve sheath neoplasm Malignant Epithelioid Peripheral Nerve Sheath Neoplasm NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid peripheral nerve sheath neoplasm NCIT:C6561 NCIT @@ -46427,15 +45474,12 @@ MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal neo MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant oropharyngeal tumor malignant oropharyngeal tumor Malignant Oropharyngeal Tumor NCIT:C7398 Malignant Oropharyngeal Neoplasm confirmed malignant oropharyngeal tumor NCIT:C7398 NCIT MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of oropharynx malignant tumor of oropharynx Malignant Tumor of Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm confirmed malignant tumor of oropharynx NCIT:C7398 NCIT MONDO:0004608 oropharynx cancer oio:hasExactSynonym malignant tumor of the oropharynx malignant tumor of the oropharynx Malignant Tumor of the Oropharynx NCIT:C7398 Malignant Oropharyngeal Neoplasm confirmed malignant tumor of the oropharynx NCIT:C7398 NCIT -MONDO:0004608 oropharynx cancer oio:hasExactSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma confirmed cancer of oropharynx NCIT:C9105 NCIT -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oropharyngeal cancer oropharyngeal cancer Oropharyngeal Cancer NCIT:C9105 Oropharyngeal Carcinoma confirmed oropharyngeal cancer NCIT:C9105 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of soft palate malignant neoplasm of soft palate Malignant Neoplasm of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant neoplasm of soft palate NCIT:C3529 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant neoplasm of the soft palate malignant neoplasm of the soft palate Malignant Neoplasm of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant neoplasm of the soft palate NCIT:C3529 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate neoplasm malignant soft palate neoplasm Malignant Soft Palate Neoplasm NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant soft palate neoplasm NCIT:C3529 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant soft palate tumor malignant soft palate tumor Malignant Soft Palate Tumor NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant soft palate tumor NCIT:C3529 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of soft palate malignant tumor of soft palate Malignant Tumor of Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant tumor of soft palate NCIT:C3529 NCIT MONDO:0004611 soft palate cancer oio:hasExactSynonym malignant tumor of the soft palate malignant tumor of the soft palate Malignant Tumor of the Soft Palate NCIT:C3529 Malignant Soft Palate Neoplasm confirmed malignant tumor of the soft palate NCIT:C3529 NCIT -MONDO:0004611 soft palate cancer oio:hasExactSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma confirmed soft palate cancer NCIT:C8395 NCIT MONDO:0004612 malignant histiocytosis oio:hasExactSynonym histiocytic medullary reticulosis histiocytic medullary reticulosis Histiocytic Medullary Reticulosis NCIT:C7202 Malignant Histiocytosis confirmed histiocytic medullary reticulosis NCIT:C7202 NCIT MONDO:0004613 acute intestinal ischemia oio:hasExactSynonym acute intestinal ischemia acute intestinal ischemia Acute Intestinal Ischemia NCIT:C34356 Acute Intestinal Ischemia confirmed acute intestinal ischemia NCIT:C34356 NCIT MONDO:0004619 measles oio:hasExactSynonym rubeola infection rubeola infection Rubeola Infection NCIT:C96406 Measles confirmed rubeola infection NCIT:C96406 NCIT @@ -46507,10 +45551,10 @@ MONDO:0004643 myeloid leukemia oio:hasExactSynonym leukemia, granulocytic, mali MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelocytic leukemia myelocytic leukemia Myelocytic Leukemia NCIT:C3172 Myeloid Leukemia confirmed myelocytic leukemia NCIT:C3172 NCIT MONDO:0004643 myeloid leukemia oio:hasExactSynonym myelogenous leukemia myelogenous leukemia Myelogenous Leukemia NCIT:C3172 Myeloid Leukemia confirmed myelogenous leukemia NCIT:C3172 NCIT MONDO:0004643 myeloid leukemia oio:hasExactSynonym myeloid leukemia myeloid leukemia Myeloid Leukemia NCIT:C3172 Myeloid Leukemia confirmed myeloid leukemia NCIT:C3172 NCIT -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphoblastic leukemia NCIT:C3172 NCIT MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphoblastic leukemia NCIT:C3172 NCIT -MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphocytic leukemia NCIT:C3172 NCIT +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphoblastic leukemia non-lymphoblastic leukemia Non-Lymphoblastic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphoblastic leukemia NCIT:C3172 NCIT MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphocytic leukemia NCIT:C3172 NCIT +MONDO:0004643 myeloid leukemia oio:hasExactSynonym non-lymphocytic leukemia non-lymphocytic leukemia Non-Lymphocytic Leukemia NCIT:C3172 Myeloid Leukemia confirmed non-lymphocytic leukemia NCIT:C3172 NCIT MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa neoplasm malignant buccal mucosa neoplasm Malignant Buccal Mucosa Neoplasm NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant buccal mucosa neoplasm NCIT:C9320 NCIT MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant buccal mucosa tumor malignant buccal mucosa tumor Malignant Buccal Mucosa Tumor NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant buccal mucosa tumor NCIT:C9320 NCIT MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant neoplasm of buccal mucosa malignant neoplasm of buccal mucosa Malignant Neoplasm of Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant neoplasm of buccal mucosa NCIT:C9320 NCIT @@ -46529,12 +45573,12 @@ MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactS MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical CML atypical CML Atypical CML NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed atypical CML NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia atypical chronic myeloid leukemia Atypical Chronic Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed atypical chronic myeloid leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym atypical chronic myeloid leukemia, BCR-ABL1 Negative atypical chronic myeloid leukemia, BCR-ABL1 Negative Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed atypical chronic myeloid leukemia, BCR-ABL1 Negative NCIT:C3519 NCIT -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute granulocytic leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute granulocytic leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute granulocytic leukemia NCIT:C3519 NCIT -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myelogenous leukemia NCIT:C3519 NCIT +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute Granulocytic Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute granulocytic leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute Myelogenous Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myelogenous leukemia NCIT:C3519 NCIT -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myelogenous leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT MONDO:0004656 rubella oio:hasExactSynonym Rubella infection Rubella infection Rubella Infection NCIT:C85051 Rubella Infection confirmed Rubella infection NCIT:C85051 NCIT MONDO:0004656 rubella oio:hasExactSynonym german measles german measles German Measles NCIT:C85051 Rubella Infection confirmed german measles NCIT:C85051 NCIT MONDO:0004656 rubella oio:hasExactSynonym three-Day Measles three-Day Measles Three-Day Measles NCIT:C85051 Rubella Infection confirmed three-Day Measles NCIT:C85051 NCIT @@ -46597,7 +45641,6 @@ MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant sublingual gland tumor malignant sublingual gland tumor Malignant Sublingual Gland Tumor NCIT:C3527 Malignant Sublingual Gland Neoplasm confirmed malignant sublingual gland tumor NCIT:C3527 NCIT MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of sublingual gland malignant tumor of sublingual gland Malignant Tumor of Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm confirmed malignant tumor of sublingual gland NCIT:C3527 NCIT MONDO:0004667 sublingual gland cancer oio:hasExactSynonym malignant tumor of the sublingual gland malignant tumor of the sublingual gland Malignant Tumor of the Sublingual Gland NCIT:C3527 Malignant Sublingual Gland Neoplasm confirmed malignant tumor of the sublingual gland NCIT:C3527 NCIT -MONDO:0004667 sublingual gland cancer oio:hasExactSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma confirmed sublingual gland cancer NCIT:C8397 NCIT MONDO:0004668 fascioliasis oio:hasExactSynonym Fasciolosis NCIT:C128387 Fasciolosis confirmed Fasciolosis NCIT:C128387 NCIT MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of salivary gland cancer of salivary gland Cancer of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm confirmed cancer of salivary gland NCIT:C3811 NCIT MONDO:0004669 salivary gland cancer oio:hasExactSynonym cancer of the salivary gland cancer of the salivary gland Cancer of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm confirmed cancer of the salivary gland NCIT:C3811 NCIT @@ -46608,14 +45651,13 @@ MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant salivary glan MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of salivary gland malignant tumor of salivary gland Malignant Tumor of Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm confirmed malignant tumor of salivary gland NCIT:C3811 NCIT MONDO:0004669 salivary gland cancer oio:hasExactSynonym malignant tumor of the salivary gland malignant tumor of the salivary gland Malignant Tumor of the Salivary Gland NCIT:C3811 Malignant Salivary Gland Neoplasm confirmed malignant tumor of the salivary gland NCIT:C3811 NCIT MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm confirmed salivary gland cancer NCIT:C3811 NCIT -MONDO:0004669 salivary gland cancer oio:hasExactSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma confirmed salivary gland cancer NCIT:C9272 NCIT MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus lupus Lupus NCIT:C27153 Lupus Erythematosus confirmed lupus NCIT:C27153 NCIT MONDO:0004670 lupus erythematosus oio:hasExactSynonym lupus erythematosus lupus erythematosus Lupus Erythematosus NCIT:C27153 Lupus Erythematosus confirmed lupus erythematosus NCIT:C27153 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen disease of the penis Bowen disease of the penis Bowen Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ confirmed Bowen disease of the penis NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of penis Bowen's disease of penis Bowen's Disease of Penis NCIT:C27790 Penile Carcinoma In Situ confirmed Bowen's disease of penis NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Bowen's disease of the penis Bowen's disease of the penis Bowen's Disease of the Penis NCIT:C27790 Penile Carcinoma In Situ confirmed Bowen's disease of the penis NCIT:C27790 NCIT -MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ confirmed Queyrat erythroplasia NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia Queyrat erythroplasia Queyrat Erythroplasia NCIT:C27790 Penile Carcinoma In Situ confirmed Queyrat erythroplasia NCIT:C27790 NCIT +MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat erythroplasia NCIT:C27790 Penile Carcinoma In Situ confirmed Queyrat erythroplasia NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym Queyrat's erythroplasia Queyrat's erythroplasia Queyrat's Erythroplasia NCIT:C27790 Penile Carcinoma In Situ confirmed Queyrat's erythroplasia NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of penis carcinoma in situ of penis Carcinoma in situ of Penis NCIT:C27790 Penile Carcinoma In Situ confirmed carcinoma in situ of penis NCIT:C27790 NCIT MONDO:0004671 penis carcinoma in situ oio:hasExactSynonym carcinoma in situ of the penis carcinoma in situ of the penis Carcinoma in situ of the Penis NCIT:C27790 Penile Carcinoma In Situ confirmed carcinoma in situ of the penis NCIT:C27790 NCIT @@ -46633,8 +45675,8 @@ MONDO:0004684 plantar fibromatosis oio:hasExactSynonym Ledderhose's disease Led MONDO:0004684 plantar fibromatosis oio:hasExactSynonym plantar fibromatosis plantar fibromatosis Plantar Fibromatosis NCIT:C4680 Plantar Fibromatosis confirmed plantar fibromatosis NCIT:C4680 NCIT MONDO:0004691 autosomal dominant polycystic kidney disease oio:hasExactSynonym autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease Autosomal Dominant Polycystic Kidney Disease NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed autosomal dominant polycystic kidney disease NCIT:C84578 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym carcinoma, squamous cell, in situ, malignant carcinoma, squamous cell, in situ, malignant CARCINOMA, SQUAMOUS CELL, IN SITU, MALIGNANT NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed carcinoma, squamous cell, in situ, malignant NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid cell carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid cell carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade 3 SIN grade 3 SIN Grade 3 SIN NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade 3 SIN NCIT:C27093 NCIT @@ -46643,10 +45685,10 @@ MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III SIN grad MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III squamous intraepithelial neoplasia grade III squamous intraepithelial neoplasia Grade III Squamous Intraepithelial Neoplasia NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade III squamous intraepithelial neoplasia NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed intraepithelial squamous cell carcinoma NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial squamous cell carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed intraepithelial squamous cell carcinoma NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in-situ squamous cell carcinoma in-situ Squamous Cell Carcinoma in-situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in-situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym stage 0 squamous cell carcinoma stage 0 squamous cell carcinoma Stage 0 Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed stage 0 squamous cell carcinoma NCIT:C27093 NCIT MONDO:0004695 liver lymphoma oio:hasExactSynonym hepatic lymphoma hepatic lymphoma Hepatic Lymphoma NCIT:C4949 Liver Lymphoma confirmed hepatic lymphoma NCIT:C4949 NCIT @@ -46697,7 +45739,6 @@ MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of parot MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid malignant tumor of the parotid Malignant Tumor of the Parotid NCIT:C3525 Malignant Parotid Gland Neoplasm confirmed malignant tumor of the parotid NCIT:C3525 NCIT MONDO:0004700 parotid gland cancer oio:hasExactSynonym malignant tumor of the parotid gland malignant tumor of the parotid gland Malignant Tumor of the Parotid Gland NCIT:C3525 Malignant Parotid Gland Neoplasm confirmed malignant tumor of the parotid gland NCIT:C3525 NCIT MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm confirmed parotid gland cancer NCIT:C3525 NCIT -MONDO:0004700 parotid gland cancer oio:hasExactSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma confirmed parotid gland cancer NCIT:C6791 NCIT MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of the uterus polyp of the uterus Polyp of the Uterus NCIT:C3662 Uterine Polyp confirmed polyp of the uterus NCIT:C3662 NCIT MONDO:0004701 uterine polyp oio:hasExactSynonym polyp of uterus polyp of uterus Polyp of Uterus NCIT:C3662 Uterine Polyp confirmed polyp of uterus NCIT:C3662 NCIT MONDO:0004701 uterine polyp oio:hasExactSynonym uterine polyp uterine polyp Uterine Polyp NCIT:C3662 Uterine Polyp confirmed uterine polyp NCIT:C3662 NCIT @@ -46862,9 +45903,9 @@ MONDO:0004767 vesiculitis oio:hasExactSynonym seminal vesicles seminal vesicles MONDO:0004770 exophthalmos oio:hasExactSynonym exophthalmos exophthalmos Exophthalmos NCIT:C118763 Exophthalmos confirmed exophthalmos NCIT:C118763 NCIT MONDO:0004773 iridocyclitis oio:hasExactSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis confirmed iridocyclitis NCIT:C34736 NCIT MONDO:0004779 epididymitis oio:hasExactSynonym epididymal epididymal Epididymal NCIT:C12328 Epididymis confirmed epididymal NCIT:C12328 NCIT -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis Epididymis NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Mullerian papilloma cervical Mullerian papilloma Cervical Mullerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma confirmed cervical Mullerian papilloma NCIT:C40215 NCIT MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Müllerian papilloma cervical Müllerian papilloma Cervical Müllerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma confirmed cervical Müllerian papilloma NCIT:C40215 NCIT MONDO:0004788 cervix squamous papilloma oio:hasExactSynonym cervical squamous papilloma cervical squamous papilloma Cervical Squamous Papilloma NCIT:C6342 Cervical Squamous Papilloma confirmed cervical squamous papilloma NCIT:C6342 NCIT @@ -46928,8 +45969,8 @@ MONDO:0004846 placental abruption oio:hasExactSynonym abruptio placentae abrupt MONDO:0004846 placental abruption oio:hasExactSynonym placental abruption placental abruption Placental Abruption NCIT:C26685 Placental Abruption confirmed placental abruption NCIT:C26685 NCIT MONDO:0004846 placental abruption oio:hasExactSynonym premature separation of placenta premature separation of placenta Premature Separation of Placenta NCIT:C26685 Placental Abruption confirmed premature separation of placenta NCIT:C26685 NCIT MONDO:0004848 ulcerative stomatitis oio:hasExactSynonym ulcerative stomatitis ulcerative stomatitis Ulcerative Stomatitis NCIT:C35039 Ulcerative Stomatitis confirmed ulcerative stomatitis NCIT:C35039 NCIT -MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema confirmed emphysema NCIT:C3348 NCIT MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema EMPHYSEMA NCIT:C3348 Pulmonary Emphysema confirmed emphysema NCIT:C3348 NCIT +MONDO:0004849 pulmonary emphysema oio:hasExactSynonym emphysema emphysema Emphysema NCIT:C3348 Pulmonary Emphysema confirmed emphysema NCIT:C3348 NCIT MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym neonatal conjunctivitis neonatal conjunctivitis Neonatal Conjunctivitis NCIT:C116815 Ophthalmia Neonatorum confirmed neonatal conjunctivitis NCIT:C116815 NCIT MONDO:0004857 tendinitis oio:hasExactSynonym tendonitis tendonitis Tendonitis NCIT:C97141 Tendonitis confirmed tendonitis NCIT:C97141 NCIT MONDO:0004872 hemorrhoid oio:hasExactSynonym hemorrhoid hemorrhoid Hemorrhoid NCIT:C26792 Hemorrhoid confirmed hemorrhoid NCIT:C26792 NCIT @@ -46968,12 +46009,12 @@ MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell CL MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia B-Cell Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed B-cell chronic lymphocytic leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell chronic lymphoid leukemia B-cell chronic lymphoid leukemia B-Cell Chronic Lymphoid Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed B-cell chronic lymphoid leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym B-cell lymphocytic leukemia B-cell lymphocytic leukemia B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed B-cell lymphocytic leukemia NCIT:C3163 NCIT -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed Chronic Lymphocytic Leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed Chronic Lymphocytic Leukemia NCIT:C3163 NCIT +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed Chronic Lymphocytic Leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic B-cell lymphocytic leukemia chronic B-cell lymphocytic leukemia Chronic B-Cell Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic B-cell lymphocytic leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphatic leukemia chronic lymphatic leukemia Chronic lymphatic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic lymphatic leukemia NCIT:C3163 NCIT -MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic lymphocytic leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic Lymphocytic Leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic lymphocytic leukemia NCIT:C3163 NCIT +MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia chronic lymphocytic leukemia Chronic lymphocytic leukemia NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic lymphocytic leukemia NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym chronic lymphocytic leukemia (CLL) chronic lymphocytic leukemia (CLL) Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia confirmed chronic lymphocytic leukemia (CLL) NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym hematopoeitic - chronic lymphocytic leukemia (CLL) hematopoeitic - chronic lymphocytic leukemia (CLL) Hematopoeitic - Chronic Lymphocytic Leukemia (CLL) NCIT:C3163 Chronic Lymphocytic Leukemia confirmed hematopoeitic - chronic lymphocytic leukemia (CLL) NCIT:C3163 NCIT MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym BCLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BCLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -46989,8 +46030,6 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's Disease NCIT:C9 MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's disease Hodgkin's disease Hodgkin's Disease NCIT:C9357 Hodgkin Lymphoma confirmed Hodgkin's disease NCIT:C9357 NCIT MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin's lymphoma Hodgkin's lymphoma Hodgkin's Lymphoma NCIT:C9357 Hodgkin Lymphoma confirmed Hodgkin's lymphoma NCIT:C9357 NCIT MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym HL NCIT:C9357 Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HL NCIT:C9357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma confirmed ductal adenocarcinoma NCIT:C4017 NCIT -MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma confirmed ductal adenocarcinoma NCIT:C4017 NCIT MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal adenocarcinoma infiltrating ductal adenocarcinoma Infiltrating Ductal Adenocarcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type confirmed infiltrating ductal adenocarcinoma NCIT:C4194 NCIT MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal breast carcinoma infiltrating ductal breast carcinoma Infiltrating Ductal Breast Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type confirmed infiltrating ductal breast carcinoma NCIT:C4194 NCIT MONDO:0004953 invasive ductal breast carcinoma oio:hasExactSynonym infiltrating ductal carcinoma infiltrating ductal carcinoma Infiltrating Ductal Carcinoma NCIT:C4194 Invasive Breast Carcinoma of No Special Type confirmed infiltrating ductal carcinoma NCIT:C4194 NCIT @@ -47008,16 +46047,16 @@ MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym metastatic pros MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate cancer metastatic prostate cancer metastatic Prostate Cancer Metastatic NCIT:C8946 Metastatic Prostate Carcinoma confirmed prostate cancer metastatic NCIT:C8946 NCIT MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate carcinoma metastatic prostate carcinoma metastatic Prostate Carcinoma Metastatic NCIT:C8946 Metastatic Prostate Carcinoma confirmed prostate carcinoma metastatic NCIT:C8946 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym adenocarcinoma, mucinous, malignant adenocarcinoma, mucinous, malignant ADENOCARCINOMA, MUCINOUS, MALIGNANT NCIT:C26712 Mucinous Adenocarcinoma confirmed adenocarcinoma, mucinous, malignant NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid adenocarcinoma NCIT:C26712 NCIT +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid carcinoma NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous carcinoma NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous adenocarcinoma NCIT:C26712 NCIT +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucoid adenocarcinoma mucoid adenocarcinoma Mucoid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucoid adenocarcinoma NCIT:C26712 NCIT @@ -47028,7 +46067,6 @@ MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous adenocarcinoma mucous adenocarcinoma Mucous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucous carcinoma mucous carcinoma Mucous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucous carcinoma NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous carcinoma mucinous carcinoma Mucinous carcinoma NCIT:C5243 Ovarian Mucinous Adenocarcinoma confirmed mucinous carcinoma NCIT:C5243 NCIT MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth scc mouth scc Mouth SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma confirmed mouth scc NCIT:C4833 NCIT MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym mouth squamous cell carcinoma mouth squamous cell carcinoma Mouth Squamous Cell Carcinoma NCIT:C4833 Oral Cavity Squamous Cell Carcinoma confirmed mouth squamous cell carcinoma NCIT:C4833 NCIT MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym oral cavity scc oral cavity scc Oral Cavity SCC NCIT:C4833 Oral Cavity Squamous Cell Carcinoma confirmed oral cavity scc NCIT:C4833 NCIT @@ -47044,8 +46082,8 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the oral cavity squamous cell carcinoma of the oral cavity Squamous Cell Carcinoma of the Oral Cavity NCIT:C4833 Oral Cavity Squamous Cell Carcinoma confirmed squamous cell carcinoma of the oral cavity NCIT:C4833 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell dyscrasia plasma cell dyscrasia Plasma Cell Dyscrasia NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell dyscrasia NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell neoplasm plasma cell neoplasm Plasma Cell Neoplasm NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell neoplasm NCIT:C4665 NCIT -MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma cell tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT +MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor, malignant plasma cell tumor, malignant PLASMA CELL TUMOR, MALIGNANT NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor, malignant NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic neoplasm plasmacytic neoplasm Plasmacytic Neoplasm NCIT:C4665 Plasma Cell Neoplasm confirmed plasmacytic neoplasm NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic tumor plasmacytic tumor Plasmacytic Tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasmacytic tumor NCIT:C4665 NCIT @@ -47061,16 +46099,14 @@ MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-c MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-cell lymphocytic leukemia acute T-cell lymphocytic leukemia Acute T-Cell Lymphocytic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia confirmed acute T-cell lymphocytic leukemia NCIT:C3183 NCIT MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym precursor T-lymphoblastic leukemia precursor T-lymphoblastic leukemia Precursor T-Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia confirmed precursor T-lymphoblastic leukemia NCIT:C3183 NCIT MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T-ALL NCIT:C3183 T Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed T-ALL NCIT:C3183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia confirmed T acute lymphoblastic leukemia NCIT:C7953 NCIT -MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia confirmed T acute lymphoblastic leukemia NCIT:C9142 NCIT MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-Cell Lymphoma, Not Otherwise Specified NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified confirmed peripheral T-cell lymphoma, not otherwise specified NCIT:C4340 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar adenocarcinoma NCIT:C3768 NCIT -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell adenocarcinoma acinar cell adenocarcinoma Acinar Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell adenocarcinoma NCIT:C3768 NCIT -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell carcinoma NCIT:C3768 NCIT +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic cell adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinic cell adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell adenocarcinoma acinic cell adenocarcinoma Acinic Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinic cell adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinic cell carcinoma acinic cell carcinoma Acinic Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinic cell carcinoma NCIT:C3768 NCIT @@ -47078,33 +46114,26 @@ MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym carcinoma, acinar cell, MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis NCIT:C26780 Gastritis confirmed gastritis NCIT:C26780 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL - acute lymphocytic leukemia ALL - acute lymphocytic leukemia ALL - Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed ALL - acute lymphocytic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia acute lymphoblastic leukemia Acute Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia NCIT:C3167 NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute lymphocytic leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemias acute lymphocytic leukemias Acute Lymphocytic Leukemias NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemias NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphogenous leukemia acute lymphogenous leukemia Acute Lymphogenous Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphogenous leukemia NCIT:C3167 NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoid leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute Lymphoid Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoid leukemia NCIT:C3167 NCIT +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute lymphoid leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoid leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym leukemia, lymphoblastic, malignant leukemia, lymphoblastic, malignant LEUKEMIA, LYMPHOBLASTIC, MALIGNANT NCIT:C3167 Acute Lymphoblastic Leukemia confirmed leukemia, lymphoblastic, malignant NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor Lymphoblasic leukemia precursor Lymphoblasic leukemia Precursor Lymphoblasic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed precursor Lymphoblasic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor cell lymphoblastic leukemia precursor cell lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed precursor cell lymphoblastic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym precursor lymphoblastic leukemia precursor lymphoblastic leukemia Precursor Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed precursor lymphoblastic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukaemia acute lymphocytic leukaemia Acute Lymphocytic Leukaemia NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed acute lymphocytic leukaemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALL NCIT:C3167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3168 NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C4967 NCIT -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed adenocarcinoma NCIT:C27813 NCIT MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C2852 Adenocarcinoma confirmed adenocarcinoma NCIT:C2852 NCIT MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma, malignant adenocarcinoma, malignant ADENOCARCINOMA, MALIGNANT NCIT:C2852 Adenocarcinoma confirmed adenocarcinoma, malignant NCIT:C2852 NCIT -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma confirmed adenocarcinoma NCIT:C3512 NCIT -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4004 Gastric Adenocarcinoma confirmed adenocarcinoma NCIT:C4004 NCIT -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma confirmed adenocarcinoma NCIT:C4025 NCIT -MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma confirmed adenocarcinoma NCIT:C4029 NCIT -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma NCIT:C2970 NCIT +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma NCIT:C2970 NCIT +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym cylindroid adenocarcinoma cylindroid adenocarcinoma Cylindroid Adenocarcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed cylindroid adenocarcinoma NCIT:C2970 NCIT MONDO:0004972 adenoma oio:hasExactSynonym adenoma adenoma Adenoma NCIT:C2855 Adenoma confirmed adenoma NCIT:C2855 NCIT MONDO:0004973 adenosquamous lung carcinoma oio:hasExactSynonym adenosquamous cell lung carcinoma adenosquamous cell lung carcinoma Adenosquamous Cell Lung Carcinoma NCIT:C9133 Lung Adenosquamous Carcinoma confirmed adenosquamous cell lung carcinoma NCIT:C9133 NCIT @@ -47124,8 +46153,8 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym chromaffin par MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym PCC NCIT:C3326 Adrenal Gland Pheochromocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCC NCIT:C3326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer disease Alzheimer disease Alzheimer Disease NCIT:C2866 Alzheimer's Disease confirmed Alzheimer disease NCIT:C2866 NCIT MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's dementia Alzheimer's dementia Alzheimer's Dementia NCIT:C2866 Alzheimer's Disease confirmed Alzheimer's dementia NCIT:C2866 NCIT -MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease confirmed Alzheimer's disease NCIT:C2866 NCIT MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease NCIT:C2866 Alzheimer's Disease confirmed Alzheimer's disease NCIT:C2866 NCIT +MONDO:0004975 Alzheimer disease oio:hasExactSynonym Alzheimer's disease Alzheimer's disease Alzheimer's Disease NCIT:C2866 Alzheimer's Disease confirmed Alzheimer's disease NCIT:C2866 NCIT MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease Lou Gehrig disease Lou Gehrig Disease NCIT:C34373 Amyotrophic Lateral Sclerosis confirmed Lou Gehrig disease NCIT:C34373 NCIT MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed amyotrophic lateral sclerosis NCIT:C34373 NCIT MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym ALS NCIT:C34373 Amyotrophic Lateral Sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALS NCIT:C34373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -47176,7 +46205,6 @@ MONDO:0004989 breast carcinoma oio:hasExactSynonym breast carcinoma breast carc MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of breast carcinoma of breast Carcinoma of Breast NCIT:C4872 Breast Carcinoma confirmed carcinoma of breast NCIT:C4872 NCIT MONDO:0004989 breast carcinoma oio:hasExactSynonym carcinoma of the breast carcinoma of the breast Carcinoma of the Breast NCIT:C4872 Breast Carcinoma confirmed carcinoma of the breast NCIT:C4872 NCIT MONDO:0004989 breast carcinoma oio:hasExactSynonym mammary carcinoma mammary carcinoma Mammary Carcinoma NCIT:C4872 Breast Carcinoma confirmed mammary carcinoma NCIT:C4872 NCIT -MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ confirmed bronchioloalveolar carcinoma NCIT:C136486 NCIT MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of lung bronchioalveolar adenocarcinoma of lung Bronchioalveolar Adenocarcinoma of Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma confirmed bronchioalveolar adenocarcinoma of lung NCIT:C2923 NCIT MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar adenocarcinoma of the lung bronchioalveolar adenocarcinoma of the lung Bronchioalveolar Adenocarcinoma of the Lung NCIT:C2923 Minimally Invasive Lung Adenocarcinoma confirmed bronchioalveolar adenocarcinoma of the lung NCIT:C2923 NCIT MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronchioalveolar lung carcinoma bronchioalveolar lung carcinoma Bronchioalveolar Lung Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma confirmed bronchioalveolar lung carcinoma NCIT:C2923 NCIT @@ -47190,7 +46218,6 @@ MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym bronch MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym carcinoma, bronchioloalveolar, malignant carcinoma, bronchioloalveolar, malignant CARCINOMA, BRONCHIOLOALVEOLAR, MALIGNANT NCIT:C2923 Minimally Invasive Lung Adenocarcinoma confirmed carcinoma, bronchioloalveolar, malignant NCIT:C2923 NCIT MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym minimally invasive lung adenocarcinoma minimally invasive lung adenocarcinoma Minimally Invasive Lung Adenocarcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma confirmed minimally invasive lung adenocarcinoma NCIT:C2923 NCIT MONDO:0004991 minimally invasive lung adenocarcinoma oio:hasExactSynonym BAC bac BAC NCIT:C2923 Minimally Invasive Lung Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BAC NCIT:C2923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004992 cancer oio:hasExactSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm confirmed malignant neoplasm NCIT:C4005 NCIT MONDO:0004992 cancer oio:hasExactSynonym cancer cancer Cancer NCIT:C9305 Malignant Neoplasm confirmed cancer NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym malignancy malignancy Malignancy NCIT:C9305 Malignant Neoplasm confirmed malignancy NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym malignant growth malignant growth Malignant Growth NCIT:C9305 Malignant Neoplasm confirmed malignant growth NCIT:C9305 NCIT @@ -47208,8 +46235,8 @@ MONDO:0004993 carcinoma oio:hasExactSynonym epithelioma malignant epithelioma m MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial neoplasm malignant epithelial neoplasm Malignant Epithelial Neoplasm NCIT:C2916 Carcinoma confirmed malignant epithelial neoplasm NCIT:C2916 NCIT MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial tumor malignant epithelial tumor Malignant Epithelial Tumor NCIT:C2916 Carcinoma confirmed malignant epithelial tumor NCIT:C2916 NCIT MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelioma malignant epithelioma Malignant Epithelioma NCIT:C2916 Carcinoma confirmed malignant epithelioma NCIT:C2916 NCIT -MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy CARDIOMYOPATHY NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT +MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease cardiovascular disease Cardiovascular Disease NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disease NCIT:C2931 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease (CVD) cardiovascular disease (CVD) Cardiovascular Disease (CVD) NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disease (CVD) NCIT:C2931 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disorder cardiovascular disorder Cardiovascular Disorder NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disorder NCIT:C2931 NCIT @@ -47250,8 +46277,8 @@ MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor Graw MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood clear cell sarcoma of the kidney childhood clear cell sarcoma of the kidney Childhood Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood clear cell sarcoma of the kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood kidney clear cell sarcoma childhood kidney clear cell sarcoma Childhood Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood kidney clear cell sarcoma NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood renal clear cell sarcoma childhood renal clear cell sarcoma Childhood Renal Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood renal clear cell sarcoma NCIT:C4264 NCIT -MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear Cell Sarcoma of Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT +MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of the kidney clear cell sarcoma of the kidney Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of the kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym kidney clear cell sarcoma kidney clear cell sarcoma Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed kidney clear cell sarcoma NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym pediatric kidney clear cell sarcoma pediatric kidney clear cell sarcoma Pediatric Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed pediatric kidney clear cell sarcoma NCIT:C4264 NCIT @@ -47306,7 +46333,6 @@ MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes mellitus Diabetes Mellitus NCIT:C2985 Diabetes Mellitus confirmed diabetes mellitus NCIT:C2985 NCIT MONDO:0005015 diabetes mellitus oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005016 diabetic kidney disease oio:hasExactSynonym diabetic nephropathy diabetic nephropathy Diabetic Nephropathy NCIT:C84417 Diabetic Nephropathy confirmed diabetic nephropathy NCIT:C84417 NCIT -MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym carcinoma, diffuse type carcinoma, diffuse type Carcinoma, diffuse type NCIT:C4127 Diffuse Type Adenocarcinoma confirmed carcinoma, diffuse type NCIT:C4127 NCIT MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of linitis plastica type adenocarcinoma of linitis plastica type Adenocarcinoma of Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma confirmed adenocarcinoma of linitis plastica type NCIT:C9159 NCIT MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of the linitis plastica type adenocarcinoma of the linitis plastica type Adenocarcinoma of the Linitis Plastica Type NCIT:C9159 Gastric Diffuse Adenocarcinoma confirmed adenocarcinoma of the linitis plastica type NCIT:C9159 NCIT MONDO:0005017 diffuse gastric adenocarcinoma oio:hasExactSynonym diffuse adenocarcinoma of stomach diffuse adenocarcinoma of stomach Diffuse Adenocarcinoma of Stomach NCIT:C9159 Gastric Diffuse Adenocarcinoma confirmed diffuse adenocarcinoma of stomach NCIT:C9159 NCIT @@ -47357,8 +46383,8 @@ MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym adenocarcinoma of t MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophageal adenocarcinoma esophageal adenocarcinoma Esophageal Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma confirmed esophageal adenocarcinoma NCIT:C4025 NCIT MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophagus adenocarcinoma esophagus adenocarcinoma Esophagus Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma confirmed esophagus adenocarcinoma NCIT:C4025 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytemia essential thrombocytemia Essential Thrombocytemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocytemia NCIT:C3407 NCIT -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential Thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytosis essential thrombocytosis Essential Thrombocytosis NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocytosis NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocythemia primary thrombocythemia Primary Thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed primary thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocytosis primary thrombocytosis Primary Thrombocytosis NCIT:C3407 Essential Thrombocythemia confirmed primary thrombocytosis NCIT:C3407 NCIT @@ -47376,8 +46402,8 @@ MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of the thy MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid adenoma of thyroid Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma of thyroid NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid gland adenoma of thyroid gland Adenoma of Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma of thyroid gland NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma, follicular cell, benign adenoma, follicular cell, benign ADENOMA, FOLLICULAR CELL, BENIGN NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma, follicular cell, benign NCIT:C3502 NCIT -MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular Adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT +MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid follicular adenoma of the thyroid Follicular Adenoma of the Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of the thyroid NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid gland follicular adenoma of the thyroid gland Follicular Adenoma of the Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of the thyroid gland NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of thyroid follicular adenoma of thyroid Follicular Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of thyroid NCIT:C3502 NCIT @@ -47420,14 +46446,12 @@ MONDO:0005039 reproductive system disorder oio:hasExactSynonym disorder of repr MONDO:0005039 reproductive system disorder oio:hasExactSynonym genital disorders genital disorders Genital Disorders NCIT:C4875 Reproductive System Disorder confirmed genital disorders NCIT:C4875 NCIT MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disease reproductive system disease Reproductive System Disease NCIT:C4875 Reproductive System Disorder confirmed reproductive system disease NCIT:C4875 NCIT MONDO:0005039 reproductive system disorder oio:hasExactSynonym reproductive system disorder reproductive system disorder Reproductive System Disorder NCIT:C4875 Reproductive System Disorder confirmed reproductive system disorder NCIT:C4875 NCIT -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor confirmed germ cell tumor NCIT:C114777 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell neoplasm germ cell neoplasm Germ Cell Neoplasm NCIT:C3708 Germ Cell Tumor confirmed germ cell neoplasm NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor confirmed germ cell tumor NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of germ cell neoplasm of germ cell Neoplasm of Germ Cell NCIT:C3708 Germ Cell Tumor confirmed neoplasm of germ cell NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of the germ cell neoplasm of the germ cell Neoplasm of the Germ Cell NCIT:C3708 Germ Cell Tumor confirmed neoplasm of the germ cell NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of germ cell tumor of germ cell Tumor of Germ Cell NCIT:C3708 Germ Cell Tumor confirmed tumor of germ cell NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of the germ cell tumor of the germ cell Tumor of the Germ Cell NCIT:C3708 Germ Cell Tumor confirmed tumor of the germ cell NCIT:C3708 NCIT -MONDO:0005040 germ cell tumor oio:hasExactSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor confirmed germ cell tumor NCIT:C7928 NCIT MONDO:0005041 glaucoma oio:hasExactSynonym glaucoma glaucoma Glaucoma NCIT:C26782 Glaucoma confirmed glaucoma NCIT:C26782 NCIT MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia HYPERPLASIA NCIT:C3113 Hyperplasia confirmed hyperplasia NCIT:C3113 NCIT MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia Hyperplasia NCIT:C3113 Hyperplasia confirmed hyperplasia NCIT:C3113 NCIT @@ -47467,19 +46491,17 @@ MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltratin MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltrating lobular carcinoma of the breast infiltrating lobular carcinoma of the breast Infiltrating Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed infiltrating lobular carcinoma of the breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular adenocarcinoma invasive lobular adenocarcinoma Invasive Lobular Adenocarcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular adenocarcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular breast carcinoma invasive lobular breast carcinoma Invasive Lobular Breast Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular breast carcinoma NCIT:C7950 NCIT -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive Lobular Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT +MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of breast invasive lobular carcinoma of breast Invasive Lobular Carcinoma of Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma of breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of the breast invasive lobular carcinoma of the breast Invasive Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma of the breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma, classic type invasive lobular carcinoma, classic type Invasive Lobular Carcinoma, Classic Type NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma, classic type NCIT:C7950 NCIT -MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBD NCIT:C3138 Inflammatory Bowel Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IBD NCIT:C3138 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym irritable bowel syndrome irritable bowel syndrome Irritable Bowel Syndrome NCIT:C82343 Irritable Bowel Syndrome confirmed irritable bowel syndrome NCIT:C82343 NCIT MONDO:0005052 irritable bowel syndrome oio:hasExactSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma confirmed Kaposi sarcoma NCIT:C9087 NCIT MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma NCIT:C9087 Kaposi Sarcoma confirmed Kaposi sarcoma NCIT:C9087 NCIT +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi sarcoma Kaposi sarcoma Kaposi Sarcoma NCIT:C9087 Kaposi Sarcoma confirmed Kaposi sarcoma NCIT:C9087 NCIT MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi's sarcoma Kaposi's sarcoma Kaposi's Sarcoma NCIT:C9087 Kaposi Sarcoma confirmed Kaposi's sarcoma NCIT:C9087 NCIT MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym KS NCIT:C9087 Kaposi Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KS NCIT:C9087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, keratinizing squamous cell carcinoma, keratinizing Squamous Cell Carcinoma, Keratinizing NCIT:C40187 Cervical Keratinizing Squamous Cell Carcinoma confirmed squamous cell carcinoma, keratinizing NCIT:C40187 NCIT MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma Keratinizing Squamous Cell Carcinoma NCIT:C4105 Keratinizing Squamous Cell Carcinoma confirmed keratinizing squamous cell carcinoma NCIT:C4105 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell NEC large cell NEC Large Cell NEC NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell NEC NCIT:C6875 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large Cell Neuroendocrine Carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell neuroendocrine carcinoma NCIT:C6875 NCIT @@ -47495,11 +46517,8 @@ MONDO:0005059 leukemia oio:hasExactSynonym leukemia, disease leukemia, disease MONDO:0005059 leukemia oio:hasExactSynonym leukemia, malignant leukemia, malignant LEUKEMIA, MALIGNANT NCIT:C3161 Leukemia confirmed leukemia, malignant NCIT:C3161 NCIT MONDO:0005059 leukemia oio:hasExactSynonym leukemias leukemias Leukemias NCIT:C3161 Leukemia confirmed leukemias NCIT:C3161 NCIT MONDO:0005059 leukemia oio:hasExactSynonym leukemias, general leukemias, general Leukemias, General NCIT:C3161 Leukemia confirmed leukemias, general NCIT:C3161 NCIT -MONDO:0005059 leukemia oio:hasExactSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia confirmed leukemia NCIT:C4989 NCIT MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma confirmed liposarcoma NCIT:C3194 NCIT MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma, malignant liposarcoma, malignant LIPOSARCOMA, MALIGNANT NCIT:C3194 Liposarcoma confirmed liposarcoma, malignant NCIT:C3194 NCIT -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma confirmed liposarcoma NCIT:C7811 NCIT -MONDO:0005060 liposarcoma oio:hasExactSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma confirmed liposarcoma NCIT:C8091 NCIT MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of lung adenocarcinoma of lung Adenocarcinoma of Lung NCIT:C3512 Lung Adenocarcinoma confirmed adenocarcinoma of lung NCIT:C3512 NCIT MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym adenocarcinoma of the lung adenocarcinoma of the lung Adenocarcinoma of the Lung NCIT:C3512 Lung Adenocarcinoma confirmed adenocarcinoma of the lung NCIT:C3512 NCIT MONDO:0005061 lung adenocarcinoma oio:hasExactSynonym lung adenocarcinoma lung adenocarcinoma Lung Adenocarcinoma NCIT:C3512 Lung Adenocarcinoma confirmed lung adenocarcinoma NCIT:C3512 NCIT @@ -47509,8 +46528,6 @@ MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma (Hodgkin's and non-Hodgkin' MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma, malignant lymphoma, malignant LYMPHOMA, MALIGNANT NCIT:C3208 Lymphoma confirmed lymphoma, malignant NCIT:C3208 NCIT MONDO:0005062 lymphoma oio:hasExactSynonym lymphomatous lymphomatous Lymphomatous NCIT:C3208 Lymphoma confirmed lymphomatous NCIT:C3208 NCIT MONDO:0005062 lymphoma oio:hasExactSynonym malignant lymphoma malignant lymphoma Malignant Lymphoma NCIT:C3208 Lymphoma confirmed malignant lymphoma NCIT:C3208 NCIT -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma confirmed lymphoma NCIT:C5165 NCIT -MONDO:0005062 lymphoma oio:hasExactSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma confirmed lymphoma NCIT:C7587 NCIT MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of breast infiltrating medullary carcinoma of breast Infiltrating Medullary Carcinoma of Breast NCIT:C9119 Breast Medullary Carcinoma confirmed infiltrating medullary carcinoma of breast NCIT:C9119 NCIT MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym infiltrating medullary carcinoma of the breast infiltrating medullary carcinoma of the breast Infiltrating Medullary Carcinoma of the Breast NCIT:C9119 Breast Medullary Carcinoma confirmed infiltrating medullary carcinoma of the breast NCIT:C9119 NCIT MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym invasive medullary breast carcinoma invasive medullary breast carcinoma Invasive Medullary Breast Carcinoma NCIT:C9119 Breast Medullary Carcinoma confirmed invasive medullary breast carcinoma NCIT:C9119 NCIT @@ -47534,15 +46551,14 @@ MONDO:0005070 neoplasm oio:hasExactSynonym neoplasia neoplasia Neoplasia NCIT:C MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C3262 Neoplasm confirmed neoplasm NCIT:C3262 NCIT MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic disease neoplastic disease Neoplastic Disease NCIT:C3262 Neoplasm confirmed neoplastic disease NCIT:C3262 NCIT MONDO:0005070 neoplasm oio:hasExactSynonym neoplastic growth neoplastic growth Neoplastic Growth NCIT:C3262 Neoplasm confirmed neoplastic growth NCIT:C3262 NCIT -MONDO:0005070 neoplasm oio:hasExactSynonym neoplasm neoplasm Neoplasm NCIT:C6283 Childhood Neoplasm confirmed neoplasm NCIT:C6283 NCIT MONDO:0005071 nervous system disorder oio:hasExactSynonym disorder of nervous system disorder of nervous system Disorder of Nervous System NCIT:C26835 Nervous System Disorder confirmed disorder of nervous system NCIT:C26835 NCIT MONDO:0005071 nervous system disorder oio:hasExactSynonym nervous system disorder nervous system disorder Nervous System Disorder NCIT:C26835 Nervous System Disorder confirmed nervous system disorder NCIT:C26835 NCIT MONDO:0005071 nervous system disorder oio:hasExactSynonym neurologic disorder neurologic disorder Neurologic Disorder NCIT:C26835 Nervous System Disorder confirmed neurologic disorder NCIT:C26835 NCIT MONDO:0005071 nervous system disorder oio:hasExactSynonym neurological disorder neurological disorder Neurological Disorder NCIT:C26835 Nervous System Disorder confirmed neurological disorder NCIT:C26835 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neural Crest tumor, malignant neural Crest tumor, malignant Neural Crest Tumor, Malignant NCIT:C3270 Neuroblastoma confirmed neural Crest tumor, malignant NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma neuroblastoma Neuroblastoma NCIT:C3270 Neuroblastoma confirmed neuroblastoma NCIT:C3270 NCIT -MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-Poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT +MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma, malignant neuroblastoma, malignant NEUROBLASTOMA, MALIGNANT NCIT:C3270 Neuroblastoma confirmed neuroblastoma, malignant NCIT:C3270 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic nevus NCIT:C7570 Melanocytic Nevus confirmed melanocytic Nevus NCIT:C7570 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic Nevus NCIT:C7570 Melanocytic Nevus confirmed melanocytic Nevus NCIT:C7570 NCIT @@ -47557,8 +46573,8 @@ MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary c MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary cancer of thyroid gland papillary cancer of thyroid gland Papillary Cancer of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary cancer of thyroid gland NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid papillary carcinoma of the thyroid Papillary Carcinoma of the Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of the thyroid NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of the thyroid gland papillary carcinoma of the thyroid gland Papillary Carcinoma of the Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of the thyroid gland NCIT:C4035 NCIT -MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of thyroid NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary Carcinoma of Thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of thyroid NCIT:C4035 NCIT +MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid papillary carcinoma of thyroid Papillary carcinoma of thyroid NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of thyroid NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary carcinoma of thyroid gland papillary carcinoma of thyroid gland Papillary Carcinoma of Thyroid Gland NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary carcinoma of thyroid gland NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid cancer papillary thyroid cancer Papillary Thyroid Cancer NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary thyroid cancer NCIT:C4035 NCIT MONDO:0005075 thyroid gland papillary carcinoma oio:hasExactSynonym papillary thyroid carcinoma papillary thyroid carcinoma Papillary Thyroid Carcinoma NCIT:C4035 Thyroid Gland Papillary Carcinoma confirmed papillary thyroid carcinoma NCIT:C4035 NCIT @@ -47588,18 +46604,15 @@ MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma of the soft tissue and bone s MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma, malignant sarcoma, malignant SARCOMA, MALIGNANT NCIT:C9118 Sarcoma confirmed sarcoma, malignant NCIT:C9118 NCIT MONDO:0005090 schizophrenia oio:hasExactSynonym schizophrenia schizophrenia Schizophrenia NCIT:C3362 Schizophrenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed schizophrenia NCIT:C3362 NCIT MONDO:0005091 severe acute respiratory syndrome oio:hasExactSynonym SARS NCIT:C85064 Severe Acute Respiratory Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SARS NCIT:C85064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma confirmed signet ring cell adenocarcinoma NCIT:C3774 NCIT MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet Ring Cell Adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma confirmed signet ring cell adenocarcinoma NCIT:C3774 NCIT +MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell adenocarcinoma signet ring cell adenocarcinoma Signet ring cell adenocarcinoma NCIT:C3774 Signet Ring Cell Carcinoma confirmed signet ring cell adenocarcinoma NCIT:C3774 NCIT MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet Ring Cell Carcinoma NCIT:C3774 Signet Ring Cell Carcinoma confirmed signet ring cell carcinoma NCIT:C3774 NCIT MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C3774 Signet Ring Cell Carcinoma confirmed signet ring cell carcinoma NCIT:C3774 NCIT -MONDO:0005092 signet ring cell carcinoma oio:hasExactSynonym signet ring cell carcinoma signet ring cell carcinoma Signet ring cell carcinoma NCIT:C5720 Pancreatic Signet Ring Cell Carcinoma confirmed signet ring cell carcinoma NCIT:C5720 NCIT MONDO:0005093 skin disorder oio:hasExactSynonym cutaneous disorder cutaneous disorder Cutaneous Disorder NCIT:C3371 Skin Disorder confirmed cutaneous disorder NCIT:C3371 NCIT MONDO:0005093 skin disorder oio:hasExactSynonym disorder of skin disorder of skin Disorder of Skin NCIT:C3371 Skin Disorder confirmed disorder of skin NCIT:C3371 NCIT MONDO:0005093 skin disorder oio:hasExactSynonym skin diseases and manifestations skin diseases and manifestations Skin Diseases and Manifestations NCIT:C3371 Skin Disorder confirmed skin diseases and manifestations NCIT:C3371 NCIT MONDO:0005093 skin disorder oio:hasExactSynonym skin disorder skin disorder Skin Disorder NCIT:C3371 Skin Disorder confirmed skin disorder NCIT:C3371 NCIT MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma confirmed hemangiopericytoma NCIT:C3087 NCIT -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma confirmed hemangiopericytoma NCIT:C50401 NCIT -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor confirmed hemangiopericytoma NCIT:C7634 NCIT MONDO:0005095 spondyloarthropathy oio:hasExactSynonym seronegative spondyloarthropathy seronegative spondyloarthropathy Seronegative Spondyloarthropathy NCIT:C116778 Spondyloarthritis confirmed seronegative spondyloarthropathy NCIT:C116778 NCIT MONDO:0005095 spondyloarthropathy oio:hasExactSynonym spondyloarthritis spondyloarthritis Spondyloarthritis NCIT:C116778 Spondyloarthritis confirmed spondyloarthritis NCIT:C116778 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym carcinoma, squamous cell, malignant carcinoma, squamous cell, malignant CARCINOMA, SQUAMOUS CELL, MALIGNANT NCIT:C2929 Squamous Cell Carcinoma confirmed carcinoma, squamous cell, malignant NCIT:C2929 NCIT @@ -47609,8 +46622,8 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid cell tumor malignant epidermoid cell tumor Malignant Epidermoid Cell Tumor NCIT:C2929 Squamous Cell Carcinoma confirmed malignant epidermoid cell tumor NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell neoplasm malignant squamous cell neoplasm Malignant Squamous Cell Neoplasm NCIT:C2929 Squamous Cell Carcinoma confirmed malignant squamous cell neoplasm NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell tumor malignant squamous cell tumor Malignant Squamous Cell Tumor NCIT:C2929 Squamous Cell Carcinoma confirmed malignant squamous cell tumor NCIT:C2929 NCIT -MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT +MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell cancer squamous cell cancer Squamous Cell Cancer NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell cancer NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma squamous cell carcinoma Squamous Cell Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell carcinoma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous Cell Epithelioma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell epithelioma NCIT:C2929 NCIT @@ -47638,19 +46651,18 @@ MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic scleroderma syste MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic sclerosis systemic sclerosis Systemic Sclerosis NCIT:C72070 Systemic Scleroderma confirmed systemic sclerosis NCIT:C72070 NCIT MONDO:0005101 ulcerative colitis oio:hasExactSynonym colitis ulcerative colitis ulcerative Colitis Ulcerative NCIT:C2952 Ulcerative Colitis confirmed colitis ulcerative NCIT:C2952 NCIT MONDO:0005101 ulcerative colitis oio:hasExactSynonym ulcerative colitis ulcerative colitis Ulcerative Colitis NCIT:C2952 Ulcerative Colitis confirmed ulcerative colitis NCIT:C2952 NCIT -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma (undifferentiated sarcoma) Embryonal Sarcoma (Undifferentiated Sarcoma) NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma (undifferentiated sarcoma) NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated (embryonal) sarcoma undifferentiated (embryonal) sarcoma Undifferentiated (Embryonal) Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated (embryonal) sarcoma NCIT:C27096 NCIT -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated sarcoma NCIT:C27096 NCIT +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym UES NCIT:C27096 Liver Embryonal Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UES NCIT:C27096 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005105 melanoma oio:hasExactSynonym malignant melanoma malignant melanoma Malignant Melanoma NCIT:C3224 Melanoma confirmed malignant melanoma NCIT:C3224 NCIT MONDO:0005105 melanoma oio:hasExactSynonym melanoma melanoma Melanoma NCIT:C3224 Melanoma confirmed melanoma NCIT:C3224 NCIT MONDO:0005105 melanoma oio:hasExactSynonym melanoma, malignant melanoma, malignant MELANOMA, MALIGNANT NCIT:C3224 Melanoma confirmed melanoma, malignant NCIT:C3224 NCIT MONDO:0005106 lipoma oio:hasExactSynonym lipoma lipoma Lipoma NCIT:C3192 Lipoma confirmed lipoma NCIT:C3192 NCIT MONDO:0005106 lipoma oio:hasExactSynonym lipoma, benign lipoma, benign LIPOMA, BENIGN NCIT:C3192 Lipoma confirmed lipoma, benign NCIT:C3192 NCIT -MONDO:0005106 lipoma oio:hasExactSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm confirmed benign tumor of adipose tissue NCIT:C4502 NCIT MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disease viral disease Viral Disease NCIT:C3439 Viral Infection confirmed viral disease NCIT:C3439 NCIT MONDO:0005108 viral infectious disease oio:hasExactSynonym viral disorder viral disorder Viral Disorder NCIT:C3439 Viral Infection confirmed viral disorder NCIT:C3439 NCIT MONDO:0005108 viral infectious disease oio:hasExactSynonym viral infection viral infection Viral Infection NCIT:C3439 Viral Infection confirmed viral infection NCIT:C3439 NCIT @@ -47707,8 +46719,8 @@ MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym immune mediated diab MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type 1 diabetes type 1 diabetes Type 1 Diabetes NCIT:C2986 Type 1 Diabetes Mellitus confirmed type 1 diabetes NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I Diabetes NCIT:C2986 Type 1 Diabetes Mellitus confirmed type I diabetes NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes type I diabetes Type I diabetes NCIT:C2986 Type 1 Diabetes Mellitus confirmed type I diabetes NCIT:C2986 NCIT -MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus confirmed type I diabetes mellitus NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes mellitus NCIT:C2986 Type 1 Diabetes Mellitus confirmed type I diabetes mellitus NCIT:C2986 NCIT +MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym type I diabetes mellitus type I diabetes mellitus Type I Diabetes Mellitus NCIT:C2986 Type 1 Diabetes Mellitus confirmed type I diabetes mellitus NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym insulin dependent diabetes insulin dependent diabetes Insulin Dependent Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed insulin dependent diabetes NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym juvenile diabetes juvenile diabetes Juvenile Diabetes NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed juvenile diabetes NCIT:C2986 NCIT MONDO:0005147 type 1 diabetes mellitus oio:hasExactSynonym IDDM NCIT:C2986 Type 1 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed IDDM NCIT:C2986 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -47747,10 +46759,9 @@ MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym cervix uteri adenocar MONDO:0005153 cervical adenocarcinoma oio:hasExactSynonym uterine cervix adenocarcinoma uterine cervix adenocarcinoma Uterine Cervix Adenocarcinoma NCIT:C4029 Cervical Adenocarcinoma confirmed uterine cervix adenocarcinoma NCIT:C4029 NCIT MONDO:0005154 liver disorder oio:hasExactSynonym hepatic disorder hepatic disorder Hepatic Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed hepatic disorder NCIT:C3196 NCIT MONDO:0005154 liver disorder oio:hasExactSynonym liver and intrahepatic bile duct disorder liver and intrahepatic bile duct disorder Liver and Intrahepatic Bile Duct Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed liver and intrahepatic bile duct disorder NCIT:C3196 NCIT -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed liver disease NCIT:C3196 NCIT MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed liver disease NCIT:C3196 NCIT +MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed liver disease NCIT:C3196 NCIT MONDO:0005154 liver disorder oio:hasExactSynonym liver disorder liver disorder Liver Disorder NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder confirmed liver disorder NCIT:C3196 NCIT -MONDO:0005154 liver disorder oio:hasExactSynonym liver disease liver disease Liver Disease NCIT:C3959 Hepatobiliary Disorder confirmed liver disease NCIT:C3959 NCIT MONDO:0005155 cirrhosis of liver oio:hasExactSynonym cirrhosis cirrhosis Cirrhosis NCIT:C2951 Cirrhosis confirmed cirrhosis NCIT:C2951 NCIT MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell neoplasm lymphocytic and plasma cell neoplasm Lymphocytic and Plasma Cell Neoplasm NCIT:C7065 Lymphocytic Neoplasm confirmed lymphocytic and plasma cell neoplasm NCIT:C7065 NCIT MONDO:0005157 lymphoid neoplasm oio:hasExactSynonym lymphocytic and plasma cell tumor lymphocytic and plasma cell tumor Lymphocytic and Plasma Cell Tumor NCIT:C7065 Lymphocytic Neoplasm confirmed lymphocytic and plasma cell tumor NCIT:C7065 NCIT @@ -47773,8 +46784,6 @@ MONDO:0005161 human papilloma virus infection oio:hasExactSynonym Human papillo MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma confirmed fibrosarcoma NCIT:C3043 NCIT MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma, malignant fibrosarcoma, malignant FIBROSARCOMA, MALIGNANT NCIT:C3043 Fibrosarcoma confirmed fibrosarcoma, malignant NCIT:C3043 NCIT MONDO:0005164 fibrosarcoma oio:hasExactSynonym malignant fibromatous neoplasm malignant fibromatous neoplasm Malignant Fibromatous Neoplasm NCIT:C3043 Fibrosarcoma confirmed malignant fibromatous neoplasm NCIT:C3043 NCIT -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma confirmed fibrosarcoma NCIT:C7809 NCIT -MONDO:0005164 fibrosarcoma oio:hasExactSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma confirmed fibrosarcoma NCIT:C8088 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym benign neoplasm benign neoplasm Benign Neoplasm NCIT:C3677 Benign Neoplasm confirmed benign neoplasm NCIT:C3677 NCIT MONDO:0005166 osteoma oio:hasExactSynonym osteoma osteoma Osteoma NCIT:C3296 Osteoma confirmed osteoma NCIT:C3296 NCIT MONDO:0005166 osteoma oio:hasExactSynonym osteoma, benign osteoma, benign OSTEOMA, BENIGN NCIT:C3296 Osteoma confirmed osteoma, benign NCIT:C3296 NCIT @@ -47787,8 +46796,8 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic (solar) keratosis a MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic keratosis actinic keratosis Actinic Keratosis NCIT:C3148 Actinic Keratosis confirmed actinic keratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym solar keratosis solar keratosis Solar Keratosis NCIT:C3148 Actinic Keratosis confirmed solar keratosis NCIT:C3148 NCIT MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystadenoma serous cystadenoma Serous Cystadenoma NCIT:C3783 Serous Cystadenoma confirmed serous cystadenoma NCIT:C3783 NCIT -MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous Cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT +MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT MONDO:0005178 osteoarthritis oio:hasExactSynonym degenerative joint disease degenerative joint disease DEGENERATIVE JOINT DISEASE NCIT:C3293 Osteoarthritis confirmed degenerative joint disease NCIT:C3293 NCIT MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson's disease Parkinson's disease Parkinson's Disease NCIT:C26845 Parkinson Disease confirmed Parkinson's disease NCIT:C26845 NCIT MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease Parkinson disease Parkinson Disease NCIT:C26845 Parkinson Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Parkinson disease NCIT:C26845 NCIT @@ -47897,8 +46906,8 @@ MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic diseas MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic Disease of Breast NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic disease of breast NCIT:C3039 NCIT MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of the breast fibrocystic disease of the breast Fibrocystic Disease of the Breast NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic disease of the breast NCIT:C3039 NCIT MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic mastopathy fibrocystic mastopathy Fibrocystic Mastopathy NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic mastopathy NCIT:C3039 NCIT -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT +MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of collecting ducts of Bellini carcinoma of collecting ducts of Bellini Carcinoma of Collecting Ducts of Bellini NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of collecting ducts of Bellini NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of kidney collecting duct carcinoma of kidney collecting duct Carcinoma of Kidney Collecting Duct NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of kidney collecting duct NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct Carcinoma of Renal Collecting Duct NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of renal collecting duct NCIT:C6194 NCIT @@ -47965,10 +46974,10 @@ MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering mye MONDO:0005235 smoldering plasma cell myeloma oio:hasExactSynonym smoldering plasma cell myeloma smoldering plasma cell myeloma Smoldering Plasma Cell Myeloma NCIT:C7149 Smoldering Multiple Myeloma confirmed smoldering plasma cell myeloma NCIT:C7149 NCIT MONDO:0005236 xanthoma oio:hasExactSynonym xanthoma xanthoma Xanthoma NCIT:C4071 Xanthoma confirmed xanthoma NCIT:C4071 NCIT MONDO:0005238 round cell liposarcoma oio:hasExactSynonym cellular myxoid liposarcoma cellular myxoid liposarcoma Cellular Myxoid Liposarcoma NCIT:C4252 Round Cell Liposarcoma confirmed cellular myxoid liposarcoma NCIT:C4252 NCIT -MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma confirmed round cell liposarcoma NCIT:C4252 NCIT MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round Cell Liposarcoma NCIT:C4252 Round Cell Liposarcoma confirmed round cell liposarcoma NCIT:C4252 NCIT -MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder confirmed kidney disease NCIT:C3149 NCIT +MONDO:0005238 round cell liposarcoma oio:hasExactSynonym round cell liposarcoma round cell liposarcoma Round cell liposarcoma NCIT:C4252 Round Cell Liposarcoma confirmed round cell liposarcoma NCIT:C4252 NCIT MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney Disease NCIT:C3149 Kidney Disorder confirmed kidney disease NCIT:C3149 NCIT +MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disease kidney disease Kidney disease NCIT:C3149 Kidney Disorder confirmed kidney disease NCIT:C3149 NCIT MONDO:0005240 kidney disorder oio:hasExactSynonym kidney disorder kidney disorder Kidney Disorder NCIT:C3149 Kidney Disorder confirmed kidney disorder NCIT:C3149 NCIT MONDO:0005240 kidney disorder oio:hasExactSynonym renal disease renal disease Renal Disease NCIT:C3149 Kidney Disorder confirmed renal disease NCIT:C3149 NCIT MONDO:0005240 kidney disorder oio:hasExactSynonym renal disorder renal disorder Renal Disorder NCIT:C3149 Kidney Disorder confirmed renal disorder NCIT:C3149 NCIT @@ -47999,10 +47008,9 @@ MONDO:0005267 heart disorder oio:hasExactSynonym heart trouble heart trouble He MONDO:0005269 carotid artery disorder oio:hasExactSynonym carotid artery disorder carotid artery disorder Carotid Artery Disorder NCIT:C84476 Carotid Artery Disorder confirmed carotid artery disorder NCIT:C84476 NCIT MONDO:0005271 allergic disease oio:hasExactSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction confirmed allergic reaction NCIT:C114476 NCIT MONDO:0005271 allergic disease oio:hasExactSynonym allergy allergy Allergy NCIT:C114476 Allergic Reaction confirmed allergy NCIT:C114476 NCIT -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia confirmed refractory anemia NCIT:C2872 NCIT MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia NCIT:C2872 Refractory Anemia confirmed refractory anemia NCIT:C2872 NCIT +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory Anemia NCIT:C2872 Refractory Anemia confirmed refractory anemia NCIT:C2872 NCIT MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym MDS-SLD NCIT:C82591 Myelodysplastic Syndrome, Not Otherwise Specified with Single Lineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-SLD NCIT:C82591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005275 lung disorder oio:hasExactSynonym disorder of lung disorder of lung Disorder of Lung NCIT:C3198 Lung Disorder confirmed disorder of lung NCIT:C3198 NCIT MONDO:0005275 lung disorder oio:hasExactSynonym lung disorder lung disorder Lung Disorder NCIT:C3198 Lung Disorder confirmed lung disorder NCIT:C3198 NCIT @@ -48013,7 +47021,6 @@ MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorder pulmonary di MONDO:0005275 lung disorder oio:hasExactSynonym pulmonary disorders pulmonary disorders Pulmonary Disorders NCIT:C3198 Lung Disorder confirmed pulmonary disorders NCIT:C3198 NCIT MONDO:0005277 migraine disorder oio:hasExactSynonym migraine migraine Migraine NCIT:C89715 Migraine confirmed migraine NCIT:C89715 NCIT MONDO:0005277 migraine disorder oio:hasExactSynonym migraine headache migraine headache Migraine Headache NCIT:C89715 Migraine confirmed migraine headache NCIT:C89715 NCIT -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma confirmed serous adenocarcinoma NCIT:C3778 NCIT MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma confirmed serous adenocarcinoma NCIT:C40101 NCIT MONDO:0005279 pulmonary embolism oio:hasExactSynonym pulmonary embolism pulmonary embolism Pulmonary Embolism NCIT:C50713 Pulmonary Embolism confirmed pulmonary embolism NCIT:C50713 NCIT MONDO:0005280 prostatitis oio:hasExactSynonym prostatitis prostatitis Prostatitis NCIT:C26866 Prostatitis confirmed prostatitis NCIT:C26866 NCIT @@ -48053,20 +47060,17 @@ MONDO:0005300 chronic kidney disease oio:hasExactSynonym CKD - chronic kidney d MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic Kidney Disease NCIT:C80078 Chronic Kidney Disease confirmed chronic kidney disease NCIT:C80078 NCIT MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic kidney disease chronic kidney disease Chronic kidney disease NCIT:C80078 Chronic Kidney Disease confirmed chronic kidney disease NCIT:C80078 NCIT MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease confirmed chronic renal disease NCIT:C80078 NCIT -MONDO:0005300 chronic kidney disease oio:hasExactSynonym chronic renal disease chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure confirmed chronic renal disease NCIT:C9438 NCIT MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit disorder attention deficit disorder Attention Deficit Disorder NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type confirmed attention deficit disorder NCIT:C35092 NCIT MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, inattentive/distractible type attention deficit hyperactivity disorder, inattentive/distractible type Attention Deficit Hyperactivity Disorder, Inattentive/Distractible Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type confirmed attention deficit hyperactivity disorder, inattentive/distractible type NCIT:C35092 NCIT MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym attention deficit hyperactivity disorder, predominantly inattentive type attention deficit hyperactivity disorder, predominantly inattentive type Attention Deficit Hyperactivity Disorder, Predominantly Inattentive Type NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type confirmed attention deficit hyperactivity disorder, predominantly inattentive type NCIT:C35092 NCIT MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADD NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADD NCIT:C35092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005302 attention deficit hyperactivity disorder, inattentive type oio:hasExactSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005303 drug dependence oio:hasExactSynonym chemical dependence chemical dependence Chemical Dependence NCIT:C3894 Drug Dependence confirmed chemical dependence NCIT:C3894 NCIT MONDO:0005310 atrial flutter oio:hasExactSynonym atrial flutter atrial flutter Atrial Flutter NCIT:C51224 Atrial Flutter confirmed atrial flutter NCIT:C51224 NCIT MONDO:0005311 atherosclerosis oio:hasExactSynonym atherosclerotic cardiovascular disease atherosclerotic cardiovascular disease Atherosclerotic Cardiovascular Disease NCIT:C35771 Atherosclerotic Cardiovascular Disease confirmed atherosclerotic cardiovascular disease NCIT:C35771 NCIT -MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing Enterocolitis NCIT:C84915 Necrotizing Enterocolitis confirmed necrotizing enterocolitis NCIT:C84915 NCIT MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym NEC NCIT:C84915 Necrotizing Enterocolitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEC NCIT:C84915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture confirmed fracture NCIT:C3046 NCIT MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture Fracture NCIT:C3046 Fracture confirmed fracture NCIT:C3046 NCIT +MONDO:0005315 bone fracture oio:hasExactSynonym fracture fracture FRACTURE NCIT:C3046 Fracture confirmed fracture NCIT:C3046 NCIT MONDO:0005315 bone fracture oio:hasExactSynonym fracture of bone fracture of bone Fracture of Bone NCIT:C3046 Fracture confirmed fracture of bone NCIT:C3046 NCIT MONDO:0005318 canker sore oio:hasExactSynonym aphthous ulcer aphthous ulcer Aphthous Ulcer NCIT:C62546 Canker Sore confirmed aphthous ulcer NCIT:C62546 NCIT MONDO:0005318 canker sore oio:hasExactSynonym canker sore canker sore Canker Sore NCIT:C62546 Canker Sore confirmed canker sore NCIT:C62546 NCIT @@ -48089,8 +47093,8 @@ MONDO:0005335 colorectal neoplasm oio:hasExactSynonym tumor of the large bowel MONDO:0005338 open-angle glaucoma oio:hasExactSynonym open angle glaucoma open angle glaucoma Open Angle Glaucoma NCIT:C34641 Open Angle Glaucoma confirmed open angle glaucoma NCIT:C34641 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of skin basal cell carcinoma of skin Basal Cell Carcinoma of Skin NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell carcinoma of skin NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of the skin basal cell carcinoma of the skin Basal Cell Carcinoma of the Skin NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell carcinoma of the skin NCIT:C2921 NCIT -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell epithelioma NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal Cell Epithelioma NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell epithelioma NCIT:C2921 NCIT +MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell epithelioma basal cell epithelioma Basal cell epithelioma NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell epithelioma NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym basal cell skin carcinoma basal cell skin carcinoma Basal Cell Skin Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell skin carcinoma NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell cancer skin basal cell cancer Skin Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma confirmed skin basal cell cancer NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym skin basal cell carcinoma skin basal cell carcinoma Skin Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma confirmed skin basal cell carcinoma NCIT:C2921 NCIT @@ -48102,8 +47106,8 @@ MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B NCI MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B infection Hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection confirmed Hepatitis B infection NCIT:C3097 NCIT MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym hepatitis B infection hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection confirmed hepatitis B infection NCIT:C3097 NCIT MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym viral Hepatitis B viral Hepatitis B Viral Hepatitis B NCIT:C3097 Hepatitis B Infection confirmed viral Hepatitis B NCIT:C3097 NCIT -MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT +MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis NCIT:C185242 Otosclerosis confirmed otosclerosis NCIT:C185242 NCIT MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym Creutzfeldt-Jacob disease Creutzfeldt-Jacob disease Creutzfeldt-Jacob Disease NCIT:C26802 Creutzfeldt-Jakob Disease confirmed Creutzfeldt-Jacob disease NCIT:C26802 NCIT MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym classic Creutzfeldt-Jakob disease classic Creutzfeldt-Jakob disease Classic Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease confirmed classic Creutzfeldt-Jakob disease NCIT:C26802 NCIT @@ -48177,8 +47181,8 @@ MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynon MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic malignant neoplasm to the lymph nodes metastatic malignant neoplasm to the lymph nodes Metastatic Malignant Neoplasm to the Lymph Nodes NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic malignant neoplasm to the lymph nodes NCIT:C4904 NCIT MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic neoplasm to the lymph node metastatic neoplasm to the lymph node Metastatic Neoplasm to the Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic neoplasm to the lymph node NCIT:C4904 NCIT MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic tumor to lymph node metastatic tumor to lymph node Metastatic Tumor to Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic tumor to lymph node NCIT:C4904 NCIT -MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant Carcinoma, Embryonal, Malignant NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT +MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT MONDO:0005440 embryonal carcinoma oio:hasExactSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma confirmed embryonal carcinoma NCIT:C3752 NCIT MONDO:0005441 otitis media oio:hasExactSynonym medial otitis medial otitis Medial Otitis NCIT:C34885 Otitis Media confirmed medial otitis NCIT:C34885 NCIT MONDO:0005441 otitis media oio:hasExactSynonym middle Ear Inflammation middle Ear Inflammation Middle Ear Inflammation NCIT:C34885 Otitis Media confirmed middle Ear Inflammation NCIT:C34885 NCIT @@ -48194,8 +47198,6 @@ MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of testis m MONDO:0005447 testicular cancer oio:hasExactSynonym malignant tumor of the testis malignant tumor of the testis Malignant Tumor of the Testis NCIT:C7251 Malignant Testicular Neoplasm confirmed malignant tumor of the testis NCIT:C7251 NCIT MONDO:0005451 eating disorder oio:hasExactSynonym eating disorder eating disorder Eating Disorder NCIT:C89332 Eating Disorder confirmed eating disorder NCIT:C89332 NCIT MONDO:0005452 bulimia nervosa oio:hasExactSynonym bulimia bulimia Bulimia NCIT:C34440 Bulimia Nervosa confirmed bulimia NCIT:C34440 NCIT -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung NET lung NET Lung NET NCIT:C4038 Lung Neuroendocrine Tumor confirmed lung NET NCIT:C4038 NCIT -MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine tumor lung neuroendocrine tumor Lung Neuroendocrine Tumor NCIT:C4038 Lung Neuroendocrine Tumor confirmed lung neuroendocrine tumor NCIT:C4038 NCIT MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym lung neuroendocrine neoplasm lung neuroendocrine neoplasm Lung Neuroendocrine Neoplasm NCIT:C5670 Lung Neuroendocrine Neoplasm confirmed lung neuroendocrine neoplasm NCIT:C5670 NCIT MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of lung neuroendocrine neoplasm of lung Neuroendocrine Neoplasm of Lung NCIT:C5670 Lung Neuroendocrine Neoplasm confirmed neuroendocrine neoplasm of lung NCIT:C5670 NCIT MONDO:0005454 lung neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm of the lung neuroendocrine neoplasm of the lung Neuroendocrine Neoplasm of the Lung NCIT:C5670 Lung Neuroendocrine Neoplasm confirmed neuroendocrine neoplasm of the lung NCIT:C5670 NCIT @@ -48207,8 +47209,8 @@ MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 Virus infection H1N1 Vir MONDO:0005460 swine influenza oio:hasExactSynonym H1N1 flu H1N1 flu H1N1 Flu NCIT:C80444 H1N1 Influenza confirmed H1N1 flu NCIT:C80444 NCIT MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) NCIT:C80444 H1N1 Influenza confirmed Influenza A (H1N1) NCIT:C80444 NCIT MONDO:0005460 swine influenza oio:hasExactSynonym Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus infection Influenza A (H1N1) Virus Infection NCIT:C80444 H1N1 Influenza confirmed Influenza A (H1N1) Virus infection NCIT:C80444 NCIT -MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza confirmed swine flu NCIT:C80444 NCIT MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine flu NCIT:C80444 H1N1 Influenza confirmed swine flu NCIT:C80444 NCIT +MONDO:0005460 swine influenza oio:hasExactSynonym swine flu swine flu Swine Flu NCIT:C80444 H1N1 Influenza confirmed swine flu NCIT:C80444 NCIT MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of endometrium adenocarcinoma of endometrium Adenocarcinoma of Endometrium NCIT:C7359 Endometrial Adenocarcinoma confirmed adenocarcinoma of endometrium NCIT:C7359 NCIT MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma of the endometrium adenocarcinoma of the endometrium Adenocarcinoma of the Endometrium NCIT:C7359 Endometrial Adenocarcinoma confirmed adenocarcinoma of the endometrium NCIT:C7359 NCIT MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym adenocarcinoma, endometrial, malignant adenocarcinoma, endometrial, malignant ADENOCARCINOMA, ENDOMETRIAL, MALIGNANT NCIT:C7359 Endometrial Adenocarcinoma confirmed adenocarcinoma, endometrial, malignant NCIT:C7359 NCIT @@ -48274,7 +47276,6 @@ MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced ma MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced malignant mesothelioma of the peritoneum advanced malignant mesothelioma of the peritoneum Advanced Malignant Mesothelioma of the Peritoneum NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma confirmed advanced malignant mesothelioma of the peritoneum NCIT:C8704 NCIT MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym advanced peritoneal malignant mesothelioma advanced peritoneal malignant mesothelioma Advanced Peritoneal Malignant Mesothelioma NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma confirmed advanced peritoneal malignant mesothelioma NCIT:C8704 NCIT MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym malignant peritoneal mesothelioma, advanced malignant peritoneal mesothelioma, advanced Malignant Peritoneal Mesothelioma, Advanced NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma confirmed malignant peritoneal mesothelioma, advanced NCIT:C8704 NCIT -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma confirmed oral cavity cancer NCIT:C8990 NCIT MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth neoplasm malignant mouth neoplasm Malignant Mouth Neoplasm NCIT:C9314 Malignant Oral Cavity Neoplasm confirmed malignant mouth neoplasm NCIT:C9314 NCIT MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant mouth tumor malignant mouth tumor Malignant Mouth Tumor NCIT:C9314 Malignant Oral Cavity Neoplasm confirmed malignant mouth tumor NCIT:C9314 NCIT MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant neoplasm of mouth malignant neoplasm of mouth Malignant Neoplasm of Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm confirmed malignant neoplasm of mouth NCIT:C9314 NCIT @@ -48285,15 +47286,12 @@ MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of mouth m MONDO:0005515 oral cavity cancer oio:hasExactSynonym malignant tumor of the mouth malignant tumor of the mouth Malignant Tumor of the Mouth NCIT:C9314 Malignant Oral Cavity Neoplasm confirmed malignant tumor of the mouth NCIT:C9314 NCIT MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym congenital skeletal dysplasia congenital skeletal dysplasia Congenital Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia confirmed congenital skeletal dysplasia NCIT:C84978 NCIT MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym osteochondrodysplasia osteochondrodysplasia Osteochondrodysplasia NCIT:C84978 Osteochondrodysplasia confirmed osteochondrodysplasia NCIT:C84978 NCIT -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharyngeal neoplasm pharyngeal neoplasm Pharyngeal Neoplasm NCIT:C3325 Pharyngeal Neoplasm confirmed pharyngeal neoplasm NCIT:C3325 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal neoplasm malignant pharyngeal neoplasm Malignant Pharyngeal Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant pharyngeal neoplasm NCIT:C7545 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharyngeal tumor malignant pharyngeal tumor Malignant Pharyngeal Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant pharyngeal tumor NCIT:C7545 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx neoplasm malignant pharynx neoplasm Malignant Pharynx Neoplasm NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant pharynx neoplasm NCIT:C7545 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant pharynx tumor malignant pharynx tumor Malignant Pharynx Tumor NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant pharynx tumor NCIT:C7545 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of pharynx malignant tumor of pharynx Malignant Tumor of Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant tumor of pharynx NCIT:C7545 NCIT MONDO:0005517 pharynx cancer oio:hasExactSynonym malignant tumor of the pharynx malignant tumor of the pharynx Malignant Tumor of the Pharynx NCIT:C7545 Malignant Pharyngeal Neoplasm confirmed malignant tumor of the pharynx NCIT:C7545 NCIT -MONDO:0005517 pharynx cancer oio:hasExactSynonym cancer of pharynx cancer of pharynx Cancer of Pharynx NCIT:C9466 Pharyngeal Carcinoma confirmed cancer of pharynx NCIT:C9466 NCIT -MONDO:0005517 pharynx cancer oio:hasExactSynonym pharynx cancer pharynx cancer Pharynx Cancer NCIT:C9466 Pharyngeal Carcinoma confirmed pharynx cancer NCIT:C9466 NCIT MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of kidney pelvis carcinoma of kidney pelvis Carcinoma of Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma confirmed carcinoma of kidney pelvis NCIT:C6142 NCIT MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of renal pelvis carcinoma of renal pelvis Carcinoma of Renal Pelvis NCIT:C6142 Renal Pelvis Carcinoma confirmed carcinoma of renal pelvis NCIT:C6142 NCIT MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym carcinoma of the kidney pelvis carcinoma of the kidney pelvis Carcinoma of the Kidney Pelvis NCIT:C6142 Renal Pelvis Carcinoma confirmed carcinoma of the kidney pelvis NCIT:C6142 NCIT @@ -48319,19 +47317,17 @@ MONDO:0005541 spondylolysis oio:hasExactSynonym spondylolysis spondylolysis Spo MONDO:0005542 acute coronary syndrome oio:hasExactSynonym acute coronary syndrome acute coronary syndrome Acute Coronary Syndrome NCIT:C53652 Acute Coronary Syndrome confirmed acute coronary syndrome NCIT:C53652 NCIT MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia fibromyalgia Fibromyalgia NCIT:C87497 Fibromyalgia confirmed fibromyalgia NCIT:C87497 NCIT MONDO:0005546 fibromyalgia oio:hasExactSynonym fibromyalgia syndrome fibromyalgia syndrome Fibromyalgia Syndrome NCIT:C87497 Fibromyalgia confirmed fibromyalgia syndrome NCIT:C87497 NCIT -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma confirmed renal cell cancer NCIT:C6568 NCIT -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of kidney adenocarcinoma of kidney Adenocarcinoma of Kidney NCIT:C9385 Renal Cell Carcinoma confirmed adenocarcinoma of kidney NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym adenocarcinoma of the kidney adenocarcinoma of the kidney Adenocarcinoma of the Kidney NCIT:C9385 Renal Cell Carcinoma confirmed adenocarcinoma of the kidney NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym carcinoma, renal cell, malignant carcinoma, renal cell, malignant CARCINOMA, RENAL CELL, MALIGNANT NCIT:C9385 Renal Cell Carcinoma confirmed carcinoma, renal cell, malignant NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym kidney adenocarcinoma kidney adenocarcinoma Kidney Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma confirmed kidney adenocarcinoma NCIT:C9385 NCIT -MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma confirmed renal cell adenocarcinoma NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal cell adenocarcinoma NCIT:C9385 Renal Cell Carcinoma confirmed renal cell adenocarcinoma NCIT:C9385 NCIT +MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocarcinoma renal cell adenocarcinoma Renal Cell Adenocarcinoma NCIT:C9385 Renal Cell Carcinoma confirmed renal cell adenocarcinoma NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma confirmed renal cell cancer NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell carcinoma, stage unspecified renal cell carcinoma, stage unspecified Renal Cell Carcinoma, Stage Unspecified NCIT:C9385 Renal Cell Carcinoma confirmed renal cell carcinoma, stage unspecified NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infection infection INFECTION NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT +MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious infectious Infectious NCIT:C26726 Infectious Disorder confirmed infectious NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious disease infectious disease Infectious Disease NCIT:C26726 Infectious Disorder confirmed infectious disease NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious diseases and manifestations infectious diseases and manifestations Infectious Diseases and Manifestations NCIT:C26726 Infectious Disorder confirmed infectious diseases and manifestations NCIT:C26726 NCIT @@ -48349,15 +47345,14 @@ MONDO:0005559 neurodegenerative disease oio:hasExactSynonym central nervous sys MONDO:0005561 aortic disorder oio:hasExactSynonym aorta disease aorta disease Aorta Disease NCIT:C101253 Aorta Disease confirmed aorta disease NCIT:C101253 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and young adults with NUT rearrangement NCIT:C45716 NUT Carcinoma confirmed Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline Carcinoma of Children and Young Adults with NUT Rearrangement NCIT:C45716 NUT Carcinoma confirmed Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 NCIT -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT Midline Carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NUT carcinoma NUT Carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym carcinoma with t(15;19)(q13;p13.1) translocation carcinoma with t(15;19)(q13;p13.1) translocation Carcinoma with t(15;19)(q13;p13.1) Translocation NCIT:C45716 NUT Carcinoma confirmed carcinoma with t(15;19)(q13;p13.1) translocation NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym nuclear protein in testis midline carcinoma nuclear protein in testis midline carcinoma Nuclear Protein in Testis Midline Carcinoma NCIT:C45716 NUT Carcinoma confirmed nuclear protein in testis midline carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NMC NCIT:C45716 NUT Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NMC NCIT:C45716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal neoplasm embryonal neoplasm Embryonal Neoplasm NCIT:C3264 Embryonal Neoplasm confirmed embryonal neoplasm NCIT:C3264 NCIT -MONDO:0005564 embryonal neoplasm oio:hasExactSynonym embryonal tumor embryonal tumor Embryonal Tumor NCIT:C5817 Intracranial Embryonal Tumor, Not Otherwise Specified confirmed embryonal tumor NCIT:C5817 NCIT MONDO:0005565 blastoma oio:hasExactSynonym blastoma blastoma Blastoma NCIT:C8997 Blastoma confirmed blastoma NCIT:C8997 NCIT MONDO:0005565 blastoma oio:hasExactSynonym embryoma embryoma Embryoma NCIT:C8997 Blastoma confirmed embryoma NCIT:C8997 NCIT MONDO:0005566 neonatal abstinence syndrome oio:hasExactSynonym neonatal narcotic withdrawal syndrome neonatal narcotic withdrawal syndrome Neonatal Narcotic Withdrawal Syndrome NCIT:C87101 Neonatal Abstinence Syndrome confirmed neonatal narcotic withdrawal syndrome NCIT:C87101 NCIT @@ -48371,10 +47366,6 @@ MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic and lymphocy MONDO:0005570 hematologic disorder oio:hasExactSynonym hematologic disorder hematologic disorder Hematologic Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder confirmed hematologic disorder NCIT:C26323 NCIT MONDO:0005570 hematologic disorder oio:hasExactSynonym hematological disorder hematological disorder Hematological Disorder NCIT:C26323 Hematopoietic and Lymphoid Cell Disorder confirmed hematological disorder NCIT:C26323 NCIT MONDO:0005571 polycythemia oio:hasExactSynonym polycythemia polycythemia Polycythemia NCIT:C26863 Polycythemia confirmed polycythemia NCIT:C26863 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma confirmed cancer of large bowel NCIT:C2955 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma confirmed cancer of large intestine NCIT:C2955 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma confirmed cancer of the large bowel NCIT:C2955 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer colorectal cancer Colorectal Cancer NCIT:C2955 Colorectal Carcinoma confirmed colorectal cancer NCIT:C2955 NCIT MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal neoplasm malignant colorectal neoplasm Malignant Colorectal Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm confirmed malignant colorectal neoplasm NCIT:C4978 NCIT MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant colorectal tumor malignant colorectal tumor Malignant Colorectal Tumor NCIT:C4978 Malignant Colorectal Neoplasm confirmed malignant colorectal tumor NCIT:C4978 NCIT MONDO:0005575 colorectal cancer oio:hasExactSynonym malignant large bowel neoplasm malignant large bowel neoplasm Malignant Large Bowel Neoplasm NCIT:C4978 Malignant Colorectal Neoplasm confirmed malignant large bowel neoplasm NCIT:C4978 NCIT @@ -48442,9 +47433,8 @@ MONDO:0005602 ovarian teratoma oio:hasExactSynonym ovarian teratoma ovarian ter MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of ovary teratoma of ovary Teratoma of Ovary NCIT:C8110 Ovarian Teratoma confirmed teratoma of ovary NCIT:C8110 NCIT MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of the ovary teratoma of the ovary Teratoma of the Ovary NCIT:C8110 Ovarian Teratoma confirmed teratoma of the ovary NCIT:C8110 NCIT MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional cell papilloma transitional cell papilloma Transitional Cell Papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional cell papilloma NCIT:C4115 NCIT -MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT -MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C5473 Gastric Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C5473 NCIT +MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym carcinoma, tubular cell, malignant carcinoma, tubular cell, malignant CARCINOMA, TUBULAR CELL, MALIGNANT NCIT:C65192 Tubular Adenocarcinoma confirmed carcinoma, tubular cell, malignant NCIT:C65192 NCIT MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C65192 NCIT MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular Adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C65192 NCIT @@ -48475,7 +47465,6 @@ MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym anaplastic carcino MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated carcinoma, undifferentiated Carcinoma, Undifferentiated NCIT:C3692 Undifferentiated Carcinoma confirmed carcinoma, undifferentiated NCIT:C3692 NCIT MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym carcinoma, undifferentiated, malignant carcinoma, undifferentiated, malignant CARCINOMA, UNDIFFERENTIATED, MALIGNANT NCIT:C3692 Undifferentiated Carcinoma confirmed carcinoma, undifferentiated, malignant NCIT:C3692 NCIT MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated Carcinoma NCIT:C3692 Undifferentiated Carcinoma confirmed undifferentiated carcinoma NCIT:C3692 NCIT -MONDO:0005617 undifferentiated carcinoma oio:hasExactSynonym undifferentiated carcinoma undifferentiated carcinoma Undifferentiated carcinoma NCIT:C5722 Pancreatic Undifferentiated Carcinoma confirmed undifferentiated carcinoma NCIT:C5722 NCIT MONDO:0005618 anxiety disorder oio:hasExactSynonym anxiety disorder anxiety disorder Anxiety Disorder NCIT:C2878 Anxiety Disorder confirmed anxiety disorder NCIT:C2878 NCIT MONDO:0005619 typhoid fever oio:hasExactSynonym typhoid fever typhoid fever Typhoid Fever NCIT:C35089 Typhoid Fever confirmed typhoid fever NCIT:C35089 NCIT MONDO:0005626 epithelial neoplasm oio:hasExactSynonym epithelial neoplasm epithelial neoplasm Epithelial Neoplasm NCIT:C3709 Epithelial Neoplasm confirmed epithelial neoplasm NCIT:C3709 NCIT @@ -48499,12 +47488,12 @@ MONDO:0005628 male breast carcinoma oio:hasExactSynonym male breast carcinoma m MONDO:0005632 acute chest syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma adenomyoma Adenomyoma NCIT:C3726 Adenomyoma confirmed adenomyoma NCIT:C3726 NCIT MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma, benign adenomyoma, benign ADENOMYOMA, BENIGN NCIT:C3726 Adenomyoma confirmed adenomyoma, benign NCIT:C3726 NCIT -MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma Mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT +MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym Müllerian adenosarcoma Müllerian adenosarcoma Müllerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed Müllerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym adenosarcoma adenosarcoma Adenosarcoma NCIT:C9474 Adenosarcoma confirmed adenosarcoma NCIT:C9474 NCIT -MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT +MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005638 agnosia oio:hasExactSynonym agnosia agnosia Agnosia NCIT:C84542 Agnosia confirmed agnosia NCIT:C84542 NCIT MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym Atopic conjunctivitis Atopic conjunctivitis Atopic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis confirmed Atopic conjunctivitis NCIT:C34506 NCIT MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym allergic conjunctivitis allergic conjunctivitis Allergic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis confirmed allergic conjunctivitis NCIT:C34506 NCIT @@ -48514,8 +47503,8 @@ MONDO:0005648 aortic valve insufficiency oio:hasExactSynonym aortic insufficien MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym Cervicocranial syndrome Cervicocranial syndrome Cervicocranial Syndrome NCIT:C34411 Cervicocranial Syndrome confirmed Cervicocranial syndrome NCIT:C34411 NCIT MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym posterior cervical sympathetic syndrome posterior cervical sympathetic syndrome Posterior Cervical Sympathetic Syndrome NCIT:C34411 Cervicocranial Syndrome confirmed posterior cervical sympathetic syndrome NCIT:C34411 NCIT MONDO:0005664 bartonellosis oio:hasExactSynonym Bartonella infection Bartonella infection Bartonella Infection NCIT:C84586 Bartonella Infection confirmed Bartonella infection NCIT:C84586 NCIT -MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial nerve palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT +MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve paralysis facial nerve paralysis Facial Nerve Paralysis NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve paralysis NCIT:C26769 NCIT MONDO:0005668 bird fancier's lung oio:hasExactSynonym Avian hypersensitivity pneumonitis Avian hypersensitivity pneumonitis Avian Hypersensitivity Pneumonitis NCIT:C34425 Bird Fancier's Lung confirmed Avian hypersensitivity pneumonitis NCIT:C34425 NCIT MONDO:0005668 bird fancier's lung oio:hasExactSynonym bird fancier's lung bird fancier's lung Bird Fancier's Lung NCIT:C34425 Bird Fancier's Lung confirmed bird fancier's lung NCIT:C34425 NCIT @@ -48560,18 +47549,16 @@ MONDO:0005731 dipetalonemiasis oio:hasExactSynonym Dipetalonema infections Dipe MONDO:0005731 dipetalonemiasis oio:hasExactSynonym dipetalonemiasis dipetalonemiasis Dipetalonemiasis NCIT:C34540 Dipetalonemiasis confirmed dipetalonemiasis NCIT:C34540 NCIT MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym Ebola NCIT:C36171 Ebola Hemorrhagic Fever confirmed Ebola NCIT:C36171 NCIT MONDO:0005738 echinococcosis oio:hasExactSynonym echinococcosis echinococcosis Echinococcosis NCIT:C84682 Echinococcosis confirmed echinococcosis NCIT:C84682 NCIT -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor confirmed yolk Sac tumor NCIT:C27241 NCIT -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor confirmed yolk sac tumor NCIT:C27241 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus neoplasm endodermal sinus neoplasm Endodermal Sinus Neoplasm NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus neoplasm NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk SAC tumor, malignant yolk SAC tumor, malignant YOLK SAC TUMOR, MALIGNANT NCIT:C3011 Yolk Sac Tumor confirmed yolk SAC tumor, malignant NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac neoplasm yolk Sac neoplasm Yolk Sac Neoplasm NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac neoplasm NCIT:C3011 NCIT -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac tumor NCIT:C3011 NCIT +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor site unspecified yolk Sac tumor site unspecified Yolk Sac Tumor Site Unspecified NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac tumor site unspecified NCIT:C3011 NCIT -MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk sac tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk sac tumor NCIT:C3011 NCIT +MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk sac tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumour site unspecified yolk Sac tumour site unspecified Yolk Sac Tumour Site Unspecified NCIT:C3011 Yolk Sac Tumor http://purl.obolibrary.org/obo/OMO_0003005 confirmed yolk Sac tumour site unspecified NCIT:C3011 NCIT MONDO:0005746 enterobiasis oio:hasExactSynonym threadworm infection threadworm infection Threadworm Infection NCIT:C128396 Enterobiasis confirmed threadworm infection NCIT:C128396 NCIT MONDO:0005749 eosinophilic pneumonia oio:hasExactSynonym eosinophilic pneumonia eosinophilic pneumonia Eosinophilic Pneumonia NCIT:C35150 Eosinophilic Pneumonia confirmed eosinophilic pneumonia NCIT:C35150 NCIT @@ -48580,11 +47567,11 @@ MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynony MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynonym tonic-clonic epilepsy tonic-clonic epilepsy Tonic-Clonic Epilepsy NCIT:C3022 Tonic-Clonic Epilepsy confirmed tonic-clonic epilepsy NCIT:C3022 NCIT MONDO:0005756 ethmoid sinusitis oio:hasExactSynonym ethmoidal sinusitis ethmoidal sinusitis Ethmoidal Sinusitis NCIT:C34597 Ethmoidal Sinusitis confirmed ethmoidal sinusitis NCIT:C34597 NCIT MONDO:0005758 eunuchism oio:hasExactSynonym Primary testicular failure Primary testicular failure Primary Testicular Failure NCIT:C131195 Primary Testicular Failure confirmed Primary testicular failure NCIT:C131195 NCIT -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma/tumor follicular Dendritic cell sarcoma/tumor Follicular Dendritic Cell Sarcoma/Tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma/tumor NCIT:C9281 NCIT -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumor follicular dendritic cell tumor Follicular dendritic cell tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell tumor NCIT:C9281 NCIT MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym Herpes Zoster Oticus NCIT:C84763 Herpes Zoster Oticus confirmed Herpes Zoster Oticus NCIT:C84763 NCIT MONDO:0005771 geographic tongue oio:hasExactSynonym benign migratory glossitis benign migratory glossitis Benign Migratory Glossitis NCIT:C84588 Benign Migratory Glossitis confirmed benign migratory glossitis NCIT:C84588 NCIT @@ -48612,14 +47599,13 @@ MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of hypo MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant neoplasm of the hypopharynx malignant neoplasm of the hypopharynx Malignant Neoplasm of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm confirmed malignant neoplasm of the hypopharynx NCIT:C7190 NCIT MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of hypopharynx malignant tumor of hypopharynx Malignant Tumor of Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm confirmed malignant tumor of hypopharynx NCIT:C7190 NCIT MONDO:0005806 hypopharynx cancer oio:hasExactSynonym malignant tumor of the hypopharynx malignant tumor of the hypopharynx Malignant Tumor of the Hypopharynx NCIT:C7190 Malignant Hypopharyngeal Neoplasm confirmed malignant tumor of the hypopharynx NCIT:C7190 NCIT -MONDO:0005806 hypopharynx cancer oio:hasExactSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma confirmed hypopharyngeal cancer NCIT:C9465 NCIT MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Chlamydial conjunctivitis Chlamydial conjunctivitis Chlamydial Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis confirmed Chlamydial conjunctivitis NCIT:C116817 NCIT MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym Trachoma NCIT:C116817 Neonatal Chlamydia Conjunctivitis confirmed Trachoma NCIT:C116817 NCIT MONDO:0005808 inclusion conjunctivitis oio:hasExactSynonym neonatal Chlamydia conjunctivitis neonatal Chlamydia conjunctivitis Neonatal Chlamydia Conjunctivitis NCIT:C116817 Neonatal Chlamydia Conjunctivitis confirmed neonatal Chlamydia conjunctivitis NCIT:C116817 NCIT MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Mono NCIT:C34726 Infectious Mononucleosis confirmed Mono NCIT:C34726 NCIT MONDO:0005812 influenza oio:hasExactSynonym flu flu Flu NCIT:C53482 Influenza confirmed flu NCIT:C53482 NCIT -MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma confirmed interdigitating Dendritic cell sarcoma NCIT:C9282 NCIT MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating dendritic cell sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma confirmed interdigitating Dendritic cell sarcoma NCIT:C9282 NCIT +MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma Interdigitating Dendritic Cell Sarcoma NCIT:C9282 Interdigitating Dendritic Cell Sarcoma confirmed interdigitating Dendritic cell sarcoma NCIT:C9282 NCIT MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating Dendritic cell sarcoma/tumor interdigitating Dendritic cell sarcoma/tumor Interdigitating Dendritic Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma confirmed interdigitating Dendritic cell sarcoma/tumor NCIT:C9282 NCIT MONDO:0005813 interdigitating dendritic cell sarcoma oio:hasExactSynonym interdigitating cell sarcoma/tumor interdigitating cell sarcoma/tumor Interdigitating Cell Sarcoma/Tumor NCIT:C9282 Interdigitating Dendritic Cell Sarcoma confirmed interdigitating cell sarcoma/tumor NCIT:C9282 NCIT MONDO:0005814 intestinal cancer oio:hasExactSynonym bowel cancer bowel cancer Bowel Cancer NCIT:C4572 Malignant Intestinal Neoplasm confirmed bowel cancer NCIT:C4572 NCIT @@ -48647,7 +47633,6 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym leptospirosis leptospirosis Lep MONDO:0005828 listeriosis oio:hasExactSynonym Listeria infection Listeria infection Listeria Infection NCIT:C82994 Listeriosis confirmed Listeria infection NCIT:C82994 NCIT MONDO:0005831 lymph node tuberculosis oio:hasExactSynonym lymph node tuberculosis lymph node tuberculosis Lymph Node Tuberculosis NCIT:C26896 Lymph Node Tuberculosis confirmed lymph node tuberculosis NCIT:C26896 NCIT MONDO:0005833 lymphatic system disorder oio:hasExactSynonym swollen gland swollen gland Swollen Gland NCIT:C50764 Lymphadenopathy confirmed swollen gland NCIT:C50764 NCIT -MONDO:0005835 Lynch syndrome oio:hasExactSynonym hereditary non-polyposis colon cancer type 1 hereditary non-polyposis colon cancer type 1 Hereditary Non-Polyposis Colon Cancer Type 1 NCIT:C6725 Lynch 1 Syndrome confirmed hereditary non-polyposis colon cancer type 1 NCIT:C6725 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary colorectal endometrial cancer syndrome Hereditary colorectal endometrial cancer syndrome Hereditary Colorectal Endometrial Cancer Syndrome NCIT:C8494 Lynch Syndrome confirmed Hereditary colorectal endometrial cancer syndrome NCIT:C8494 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome confirmed Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome confirmed Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 NCIT @@ -48717,8 +47702,8 @@ MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym carcinoma, isl MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high grade pancreatic neuroendocrine carcinoma high grade pancreatic neuroendocrine carcinoma High Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed high grade pancreatic neuroendocrine carcinoma NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym high-grade pancreatic neuroendocrine carcinoma high-grade pancreatic neuroendocrine carcinoma High-Grade Pancreatic Neuroendocrine Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed high-grade pancreatic neuroendocrine carcinoma NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell cancer islet cell cancer Islet Cell Cancer NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed islet cell cancer NCIT:C3770 NCIT -MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed islet cell carcinoma NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet cell carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed islet cell carcinoma NCIT:C3770 NCIT +MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym islet cell carcinoma islet cell carcinoma Islet Cell Carcinoma NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed islet cell carcinoma NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed malignant islet cell tumor NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed malignant pancreatic endocrine tumor NCIT:C3770 NCIT MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym pancreatic NEC pancreatic NEC Pancreatic NEC NCIT:C3770 Pancreatic Neuroendocrine Carcinoma confirmed pancreatic NEC NCIT:C3770 NCIT @@ -48748,18 +47733,18 @@ MONDO:0005933 pulmonary blastoma oio:hasExactSynonym Pneumoblastoma NCIT:C373 MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of lung blastoma of lung Blastoma of Lung NCIT:C3732 Pulmonary Blastoma confirmed blastoma of lung NCIT:C3732 NCIT MONDO:0005933 pulmonary blastoma oio:hasExactSynonym blastoma of the lung blastoma of the lung Blastoma of the Lung NCIT:C3732 Pulmonary Blastoma confirmed blastoma of the lung NCIT:C3732 NCIT MONDO:0005933 pulmonary blastoma oio:hasExactSynonym lung blastoma lung blastoma Lung Blastoma NCIT:C3732 Pulmonary Blastoma confirmed lung blastoma NCIT:C3732 NCIT -MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma confirmed pulmonary blastoma NCIT:C3732 NCIT MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary Blastoma NCIT:C3732 Pulmonary Blastoma confirmed pulmonary blastoma NCIT:C3732 NCIT +MONDO:0005933 pulmonary blastoma oio:hasExactSynonym pulmonary blastoma pulmonary blastoma Pulmonary blastoma NCIT:C3732 Pulmonary Blastoma confirmed pulmonary blastoma NCIT:C3732 NCIT MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym malignant retroperitoneal neoplasm malignant retroperitoneal neoplasm Malignant Retroperitoneal Neoplasm NCIT:C3537 Malignant Retroperitoneal Neoplasm confirmed malignant retroperitoneal neoplasm NCIT:C3537 NCIT MONDO:0005942 Reye syndrome oio:hasExactSynonym Reye's syndrome Reye's syndrome Reye's Syndrome NCIT:C34983 Reye Syndrome confirmed Reye's syndrome NCIT:C34983 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, malignant FIBROADENOCARCINOMA, MALIGNANT NCIT:C2928 Scirrhous Adenocarcinoma confirmed FIBROADENOCARCINOMA, malignant NCIT:C2928 NCIT -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma confirmed adenocarcinoma with productive fibrosis NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma With Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma confirmed adenocarcinoma with productive fibrosis NCIT:C2928 NCIT +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma confirmed adenocarcinoma with productive fibrosis NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym fibrocarcinoma fibrocarcinoma Fibrocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed fibrocarcinoma NCIT:C2928 NCIT -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous Adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous carcinoma NCIT:C2928 NCIT +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous Carcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous carcinoma NCIT:C2928 NCIT +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous carcinoma NCIT:C2928 NCIT MONDO:0005960 silicosis oio:hasExactSynonym silicosis silicosis Silicosis NCIT:C3369 Silicosis confirmed silicosis NCIT:C3369 NCIT MONDO:0005964 sphenoid sinusitis oio:hasExactSynonym sphenoidal sinusitis sphenoidal sinusitis Sphenoidal Sinusitis NCIT:C35031 Sphenoidal Sinusitis confirmed sphenoidal sinusitis NCIT:C35031 NCIT MONDO:0005966 spleen cancer oio:hasExactSynonym cancer of the spleen cancer of the spleen Cancer of the Spleen NCIT:C3539 Malignant Splenic Neoplasm confirmed cancer of the spleen NCIT:C3539 NCIT @@ -48784,14 +47769,14 @@ MONDO:0006003 uterine corpus cancer oio:hasExactSynonym cancer of the corpus ut MONDO:0006003 uterine corpus cancer oio:hasExactSynonym corpus uteri cancer corpus uteri cancer Corpus Uteri Cancer NCIT:C61574 Uterine Corpus Cancer confirmed corpus uteri cancer NCIT:C61574 NCIT MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine (including endometrial) cancer uterine (including endometrial) cancer Uterine (Including Endometrial) Cancer NCIT:C61574 Uterine Corpus Cancer confirmed uterine (including endometrial) cancer NCIT:C61574 NCIT MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine corpus cancer uterine corpus cancer Uterine Corpus Cancer NCIT:C61574 Uterine Corpus Cancer confirmed uterine corpus cancer NCIT:C61574 NCIT -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous carcinoma NCIT:C3781 NCIT +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous Epidermoid Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous epidermoid carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid cell carcinoma verrucous epidermoid cell carcinoma Verrucous Epidermoid Cell Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid cell carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous carcinoma verrucous squamous carcinoma Verrucous Squamous Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous carcinoma NCIT:C3781 NCIT -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous cell carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous Squamous Cell Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous cell carcinoma NCIT:C3781 NCIT +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous squamous cell carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous cell carcinoma NCIT:C3781 NCIT MONDO:0006009 viral encephalitis oio:hasExactSynonym viral encephalitis viral encephalitis Viral Encephalitis NCIT:C35302 Viral Encephalitis confirmed viral encephalitis NCIT:C35302 NCIT MONDO:0006011 viral hepatitis oio:hasExactSynonym viral Hepatitis viral Hepatitis Viral Hepatitis NCIT:C35124 Viral Hepatitis confirmed viral Hepatitis NCIT:C35124 NCIT MONDO:0006014 vulvovaginal candidiasis oio:hasExactSynonym vaginal candidiasis vaginal candidiasis Vaginal Candidiasis NCIT:C2914 Vulvovaginal Candidiasis confirmed vaginal candidiasis NCIT:C2914 NCIT @@ -48864,7 +47849,6 @@ MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous carci MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma squamous cell breast carcinoma Squamous Cell Breast Carcinoma NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell breast carcinoma NCIT:C5177 NCIT MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of breast squamous cell carcinoma of breast Squamous Cell Carcinoma of Breast NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell carcinoma of breast NCIT:C5177 NCIT MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of the breast squamous cell carcinoma of the breast Squamous Cell Carcinoma of the Breast NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell carcinoma of the breast NCIT:C5177 NCIT -MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor confirmed Wilms tumor NCIT:C27730 NCIT MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor confirmed Wilms tumor NCIT:C3267 NCIT MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor NCIT:C3267 Wilms Tumor confirmed Wilms tumor NCIT:C3267 NCIT MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor confirmed Wilms' tumor NCIT:C3267 NCIT @@ -48956,17 +47940,15 @@ MONDO:0006071 adenofibroma oio:hasExactSynonym adenofibroma, benign adenofibrom MONDO:0006071 adenofibroma oio:hasExactSynonym benign mixed Muellerian tumor benign mixed Muellerian tumor Benign Mixed Muellerian Tumor NCIT:C8984 Female Reproductive System Adenofibroma confirmed benign mixed Muellerian tumor NCIT:C8984 NCIT MONDO:0006071 adenofibroma oio:hasExactSynonym female reproductive system adenofibroma female reproductive system adenofibroma Female Reproductive System Adenofibroma NCIT:C8984 Female Reproductive System Adenofibroma confirmed female reproductive system adenofibroma NCIT:C8984 NCIT MONDO:0006073 adenomatoid odontogenic tumor oio:hasExactSynonym adenomatoid odontogenic neoplasm adenomatoid odontogenic neoplasm Adenomatoid Odontogenic Neoplasm NCIT:C4310 Adenomatoid Odontogenic Tumor confirmed adenomatoid odontogenic neoplasm NCIT:C4310 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C3727 NCIT +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym carcinoma, adenosquamous, malignant carcinoma, adenosquamous, malignant CARCINOMA, ADENOSQUAMOUS, MALIGNANT NCIT:C3727 Adenosquamous Carcinoma confirmed carcinoma, adenosquamous, malignant NCIT:C3727 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid cell carcinoma mixed adenocarcinoma and epidermoid cell carcinoma Mixed Adenocarcinoma and Epidermoid Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid cell carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous carcinoma mixed adenocarcinoma and squamous carcinoma Mixed Adenocarcinoma and Squamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous carcinoma NCIT:C3727 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed Adenocarcinoma and Squamous Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C4519 Cervical Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C4519 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C5721 Pancreatic Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C5721 NCIT +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym MYELOLIPOMA, benign MYELOLIPOMA, benign MYELOLIPOMA, BENIGN NCIT:C3736 Adrenal Gland Myelolipoma confirmed MYELOLIPOMA, benign NCIT:C3736 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma confirmed Myelolipoma NCIT:C3736 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym adrenal gland myelolipoma adrenal gland myelolipoma Adrenal Gland Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma confirmed adrenal gland myelolipoma NCIT:C3736 NCIT @@ -48983,8 +47965,8 @@ MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactS MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of primary central nervous system AIDS-related lymphoma of primary central nervous system AIDS-Related Lymphoma of Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related lymphoma of primary central nervous system NCIT:C8284 NCIT MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of the primary central nervous system AIDS-related lymphoma of the primary central nervous system AIDS-Related Lymphoma of the Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related lymphoma of the primary central nervous system NCIT:C8284 NCIT MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related primary CNS lymphoma AIDS-related primary CNS lymphoma AIDS-Related Primary CNS Lymphoma NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related primary CNS lymphoma NCIT:C8284 NCIT -MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT +MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym odontoma, ameloblastic, malignant odontoma, ameloblastic, malignant ODONTOMA, AMELOBLASTIC, MALIGNANT NCIT:C7492 Ameloblastic Carcinoma confirmed odontoma, ameloblastic, malignant NCIT:C7492 NCIT MONDO:0006081 anal melanoma oio:hasExactSynonym anal malignant melanoma anal malignant melanoma Anal Malignant Melanoma NCIT:C4639 Anal Melanoma confirmed anal malignant melanoma NCIT:C4639 NCIT MONDO:0006081 anal melanoma oio:hasExactSynonym anal melanoma anal melanoma Anal Melanoma NCIT:C4639 Anal Melanoma confirmed anal melanoma NCIT:C4639 NCIT @@ -49030,8 +48012,8 @@ MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of breast atypical lobular hyperplasia of breast Atypical Lobular Hyperplasia of Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia confirmed atypical lobular hyperplasia of breast NCIT:C4730 NCIT MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of the breast atypical lobular hyperplasia of the breast Atypical Lobular Hyperplasia of the Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia confirmed atypical lobular hyperplasia of the breast NCIT:C4730 NCIT MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym ALH NCIT:C4730 Breast Atypical Lobular Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALH NCIT:C4730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT +MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym benign adrenal gland pheochromocytoma benign adrenal gland pheochromocytoma Benign Adrenal Gland Pheochromocytoma NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma confirmed benign adrenal gland pheochromocytoma NCIT:C48305 NCIT MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, benign pheochromocytoma, benign PHEOCHROMOCYTOMA, BENIGN NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromocytoma, benign NCIT:C48305 NCIT MONDO:0006104 benign carotid body paraganglioma oio:hasExactSynonym benign carotid body paraganglioma benign carotid body paraganglioma Benign Carotid Body Paraganglioma NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma confirmed benign carotid body paraganglioma NCIT:C79950 NCIT @@ -49224,8 +48206,8 @@ MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cel MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of uterine cervix squamous cell carcinoma of uterine cervix Squamous Cell Carcinoma of Uterine Cervix NCIT:C4028 Cervical Squamous Cell Carcinoma confirmed squamous cell carcinoma of uterine cervix NCIT:C4028 NCIT MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym uterine cervix squamous cell carcinoma uterine cervix squamous cell carcinoma Uterine Cervix Squamous Cell Carcinoma NCIT:C4028 Cervical Squamous Cell Carcinoma confirmed uterine cervix squamous cell carcinoma NCIT:C4028 NCIT MONDO:0006144 cervical Wilms tumor oio:hasExactSynonym cervical Wilms tumor cervical Wilms tumor Cervical Wilms Tumor NCIT:C40236 Cervical Wilms Tumor confirmed cervical Wilms tumor NCIT:C40236 NCIT -MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid Chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT +MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT MONDO:0006149 clear cell papillary cystadenoma oio:hasExactSynonym clear cell papillary cystadenoma clear cell papillary cystadenoma Clear Cell Papillary Cystadenoma NCIT:C65203 Clear Cell Papillary Cystadenoma confirmed clear cell papillary cystadenoma NCIT:C65203 NCIT MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt lymphoma colon Burkitt lymphoma Colon Burkitt Lymphoma NCIT:C27465 Colon Burkitt Lymphoma confirmed colon Burkitt lymphoma NCIT:C27465 NCIT MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt's lymphoma colon Burkitt's lymphoma Colon Burkitt's Lymphoma NCIT:C27465 Colon Burkitt Lymphoma confirmed colon Burkitt's lymphoma NCIT:C27465 NCIT @@ -49375,8 +48357,8 @@ MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym endom MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid adenocarcinoma uterine corpus endometrioid adenocarcinoma Uterine Corpus Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma confirmed uterine corpus endometrioid adenocarcinoma NCIT:C6287 NCIT MONDO:0006192 endometrial endometrioid adenocarcinoma oio:hasExactSynonym uterine corpus endometrioid carcinoma uterine corpus endometrioid carcinoma Uterine Corpus Endometrioid Carcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma confirmed uterine corpus endometrioid carcinoma NCIT:C6287 NCIT MONDO:0006193 endometrial hyperplasia without atypia oio:hasExactSynonym typical endometrial hyperplasia typical endometrial hyperplasia Typical Endometrial Hyperplasia NCIT:C40157 Endometrial Hyperplasia without Atypia confirmed typical endometrial hyperplasia NCIT:C40157 NCIT -MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp confirmed endometrial polyp NCIT:C6433 NCIT MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial Polyp NCIT:C6433 Endometrial Polyp confirmed endometrial polyp NCIT:C6433 NCIT +MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial polyp endometrial polyp Endometrial polyp NCIT:C6433 Endometrial Polyp confirmed endometrial polyp NCIT:C6433 NCIT MONDO:0006195 endometrial polyp oio:hasExactSynonym endometrial stromal polyp endometrial stromal polyp Endometrial Stromal Polyp NCIT:C6433 Endometrial Polyp confirmed endometrial stromal polyp NCIT:C6433 NCIT MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp confirmed polyp of endometrium NCIT:C6433 NCIT MONDO:0006195 endometrial polyp oio:hasExactSynonym polyp of the endometrium polyp of the endometrium Polyp of the Endometrium NCIT:C6433 Endometrial Polyp confirmed polyp of the endometrium NCIT:C6433 NCIT @@ -49525,8 +48507,8 @@ MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell myoblastoma MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell nerve sheath tumor granular cell nerve sheath tumor Granular Cell Nerve Sheath Tumor NCIT:C3474 Granular Cell Tumor confirmed granular cell nerve sheath tumor NCIT:C3474 NCIT MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell schwannoma granular cell schwannoma Granular Cell Schwannoma NCIT:C3474 Granular Cell Tumor confirmed granular cell schwannoma NCIT:C3474 NCIT MONDO:0006235 granular cell tumor oio:hasExactSynonym granular cell tumor granular cell tumor Granular Cell Tumor NCIT:C3474 Granular Cell Tumor confirmed granular cell tumor NCIT:C3474 NCIT -MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma confirmed granulocytic sarcoma NCIT:C35815 NCIT MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma confirmed granulocytic sarcoma NCIT:C35815 NCIT +MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma confirmed granulocytic sarcoma NCIT:C35815 NCIT MONDO:0006237 granulocytic sarcoma oio:hasExactSynonym sarcoma, granulocytic, malignant sarcoma, granulocytic, malignant SARCOMA, GRANULOCYTIC, MALIGNANT NCIT:C35815 Granulocytic Sarcoma confirmed sarcoma, granulocytic, malignant NCIT:C35815 NCIT MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym Somatotrophinoma NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor confirmed Somatotrophinoma NCIT:C7461 NCIT MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynonym growth hormone producing adenoma of pituitary gland growth hormone producing adenoma of pituitary gland Growth Hormone Producing Adenoma of Pituitary Gland NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor confirmed growth hormone producing adenoma of pituitary gland NCIT:C7461 NCIT @@ -49541,10 +48523,10 @@ MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynon MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym head and neck paraganglioma head and neck paraganglioma Head and Neck Paraganglioma NCIT:C5327 Head and Neck Paraganglioma confirmed head and neck paraganglioma NCIT:C5327 NCIT MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of head and neck paraganglioma of head and neck Paraganglioma of Head and Neck NCIT:C5327 Head and Neck Paraganglioma confirmed paraganglioma of head and neck NCIT:C5327 NCIT MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of the head and neck paraganglioma of the head and neck Paraganglioma of the Head and Neck NCIT:C5327 Head and Neck Paraganglioma confirmed paraganglioma of the head and neck NCIT:C5327 NCIT -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed ERBB2 Overexpressing subtype of breast carcinoma NCIT:C53556 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing breast carcinoma HER2 Overexpressing breast carcinoma HER2 Overexpressing Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 Overexpressing breast carcinoma NCIT:C53556 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 Overexpressing subtype of breast carcinoma NCIT:C53556 NCIT @@ -49552,8 +48534,8 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Positive MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 positive breast carcinoma HER2 positive breast carcinoma HER2 Positive Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 positive breast carcinoma NCIT:C53556 NCIT MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym clear cell eccrine carcinoma clear cell eccrine carcinoma Clear Cell Eccrine Carcinoma NCIT:C54664 Hidradenocarcinoma confirmed clear cell eccrine carcinoma NCIT:C54664 NCIT MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma confirmed hidradenocarcinoma NCIT:C54664 NCIT -MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High Grade Surface Osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT +MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell neoplasms histiocytic and Dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and Dendritic cell neoplasms NCIT:C9294 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell tumors histiocytic and Dendritic cell tumors Histiocytic and Dendritic Cell Tumors NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and Dendritic cell tumors NCIT:C9294 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and dendritic cell neoplasm histiocytic and dendritic cell neoplasm Histiocytic and Dendritic Cell Neoplasm NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and dendritic cell neoplasm NCIT:C9294 NCIT @@ -49567,8 +48549,8 @@ MONDO:0006249 hyperplastic polyp oio:hasExactSynonym MP NCIT:C4083 Hyperplast MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal NET G1 ileal NET G1 Ileal NET G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 confirmed ileal NET G1 NCIT:C4935 NCIT MONDO:0006250 ileal neuroendocrine tumor G1 oio:hasExactSynonym ileal neuroendocrine tumor G1 ileal neuroendocrine tumor G1 Ileal Neuroendocrine Tumor G1 NCIT:C4935 Ileal Neuroendocrine Tumor G1 confirmed ileal neuroendocrine tumor G1 NCIT:C4935 NCIT MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal type carcinoma intestinal type carcinoma Intestinal Type Carcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma confirmed intestinal type carcinoma NCIT:C4126 NCIT -MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma confirmed intestinal-type adenocarcinoma NCIT:C4126 NCIT MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-Type Adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma confirmed intestinal-type adenocarcinoma NCIT:C4126 NCIT +MONDO:0006254 intestinal type adenocarcinoma oio:hasExactSynonym intestinal-type adenocarcinoma intestinal-type adenocarcinoma Intestinal-type adenocarcinoma NCIT:C4126 Intestinal-Type Adenocarcinoma confirmed intestinal-type adenocarcinoma NCIT:C4126 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating breast carcinoma infiltrating breast carcinoma Infiltrating Breast Carcinoma NCIT:C9245 Invasive Breast Carcinoma confirmed infiltrating breast carcinoma NCIT:C9245 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of breast infiltrating carcinoma of breast Infiltrating Carcinoma of Breast NCIT:C9245 Invasive Breast Carcinoma confirmed infiltrating carcinoma of breast NCIT:C9245 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym infiltrating carcinoma of the breast infiltrating carcinoma of the breast Infiltrating Carcinoma of the Breast NCIT:C9245 Invasive Breast Carcinoma confirmed infiltrating carcinoma of the breast NCIT:C9245 NCIT @@ -49668,8 +48650,8 @@ MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing angioma MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of lung sclerosing hemangioma of lung Sclerosing Hemangioma of Lung NCIT:C5656 Sclerosing Pneumocytoma confirmed sclerosing hemangioma of lung NCIT:C5656 NCIT MONDO:0006280 lung sclerosing hemangioma oio:hasExactSynonym sclerosing hemangioma of the lung sclerosing hemangioma of the lung Sclerosing Hemangioma of the Lung NCIT:C5656 Sclerosing Pneumocytoma confirmed sclerosing hemangioma of the lung NCIT:C5656 NCIT MONDO:0006281 lung signet ring cell carcinoma oio:hasExactSynonym lung signet ring cell carcinoma lung signet ring cell carcinoma Lung Signet Ring Cell Carcinoma NCIT:C45514 Lung Signet Ring Cell Carcinoma confirmed lung signet ring cell carcinoma NCIT:C45514 NCIT -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma confirmed lymphangioendothelial sarcoma NCIT:C3205 NCIT MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial sarcoma NCIT:C3205 Lymphangiosarcoma confirmed lymphangioendothelial sarcoma NCIT:C3205 NCIT +MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangioendothelial sarcoma lymphangioendothelial sarcoma Lymphangioendothelial Sarcoma NCIT:C3205 Lymphangiosarcoma confirmed lymphangioendothelial sarcoma NCIT:C3205 NCIT MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma lymphangiosarcoma Lymphangiosarcoma NCIT:C3205 Lymphangiosarcoma confirmed lymphangiosarcoma NCIT:C3205 NCIT MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym lymphangiosarcoma, malignant lymphangiosarcoma, malignant LYMPHANGIOSARCOMA, MALIGNANT NCIT:C3205 Lymphangiosarcoma confirmed lymphangiosarcoma, malignant NCIT:C3205 NCIT MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym malignant lymphangioendothelioma malignant lymphangioendothelioma Malignant Lymphangioendothelioma NCIT:C3205 Lymphangiosarcoma confirmed malignant lymphangioendothelioma NCIT:C3205 NCIT @@ -49687,8 +48669,8 @@ MONDO:0006286 major salivary gland mucoepidermoid carcinoma oio:hasExactSynonym MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym Dedifferentiated giant cell tumor Dedifferentiated giant cell tumor Dedifferentiated Giant Cell Tumor NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed Dedifferentiated giant cell tumor NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym OSTEOCLASTOMA, malignant OSTEOCLASTOMA, malignant OSTEOCLASTOMA, MALIGNANT NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed OSTEOCLASTOMA, malignant NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell bone sarcoma giant cell bone sarcoma Giant Cell Bone Sarcoma NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell bone sarcoma NCIT:C4304 NCIT -MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell sarcoma of bone NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant cell sarcoma of bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell sarcoma of bone NCIT:C4304 NCIT +MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of bone giant cell sarcoma of bone Giant Cell Sarcoma of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell sarcoma of bone NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell sarcoma of the bone giant cell sarcoma of the bone Giant Cell Sarcoma of the Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell sarcoma of the bone NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym giant cell tumor of bone, malignant giant cell tumor of bone, malignant Giant cell tumor of bone, malignant NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed giant cell tumor of bone, malignant NCIT:C4304 NCIT MONDO:0006287 malignancy in giant cell tumor of bone oio:hasExactSynonym malignancy in giant cell tumor of bone malignancy in giant cell tumor of bone Malignancy in Giant Cell Tumor of Bone NCIT:C4304 Malignancy in Giant Cell Tumor of Bone confirmed malignancy in giant cell tumor of bone NCIT:C4304 NCIT @@ -49705,8 +48687,8 @@ MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym mali MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant adrenal pheochromocytoma malignant adrenal pheochromocytoma Malignant Adrenal Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed malignant adrenal pheochromocytoma NCIT:C4220 NCIT MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym malignant pheochromocytoma malignant pheochromocytoma Malignant Pheochromocytoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed malignant pheochromocytoma NCIT:C4220 NCIT MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromoblastoma pheochromoblastoma Pheochromoblastoma NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromoblastoma NCIT:C4220 NCIT -MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromocytoma, malignant NCIT:C4220 NCIT MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant Pheochromocytoma, malignant NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromocytoma, malignant NCIT:C4220 NCIT +MONDO:0006288 malignant adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, malignant pheochromocytoma, malignant PHEOCHROMOCYTOMA, MALIGNANT NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromocytoma, malignant NCIT:C4220 NCIT MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell neoplasm malignant germ cell neoplasm Malignant Germ Cell Neoplasm NCIT:C4925 Malignant Germ Cell Tumor confirmed malignant germ cell neoplasm NCIT:C4925 NCIT MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant germ cell tumor malignant germ cell tumor Malignant Germ Cell Tumor NCIT:C4925 Malignant Germ Cell Tumor confirmed malignant germ cell tumor NCIT:C4925 NCIT MONDO:0006290 malignant germ cell tumor oio:hasExactSynonym malignant neoplasm of germ cell malignant neoplasm of germ cell Malignant Neoplasm of Germ Cell NCIT:C4925 Malignant Germ Cell Tumor confirmed malignant neoplasm of germ cell NCIT:C4925 NCIT @@ -49725,8 +48707,8 @@ MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant neoplasm of the mesothelium malignant neoplasm of the mesothelium Malignant Neoplasm of the Mesothelium NCIT:C4456 Malignant Mesothelioma confirmed malignant neoplasm of the mesothelium NCIT:C4456 NCIT MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of mesothelium malignant tumor of mesothelium Malignant Tumor of Mesothelium NCIT:C4456 Malignant Mesothelioma confirmed malignant tumor of mesothelium NCIT:C4456 NCIT MONDO:0006292 malignant mesothelioma oio:hasExactSynonym malignant tumor of the mesothelium malignant tumor of the mesothelium Malignant Tumor of the Mesothelium NCIT:C4456 Malignant Mesothelioma confirmed malignant tumor of the mesothelium NCIT:C4456 NCIT -MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma confirmed mesothelioma, malignant NCIT:C4456 NCIT MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant MESOTHELIOMA, MALIGNANT NCIT:C4456 Malignant Mesothelioma confirmed mesothelioma, malignant NCIT:C4456 NCIT +MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant mesothelioma, malignant Mesothelioma, malignant NCIT:C4456 Malignant Mesothelioma confirmed mesothelioma, malignant NCIT:C4456 NCIT MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of pleura cancer of pleura Cancer of Pleura NCIT:C3547 Malignant Pleural Neoplasm confirmed cancer of pleura NCIT:C3547 NCIT MONDO:0006294 pleural cancer oio:hasExactSynonym cancer of the pleura cancer of the pleura Cancer of the Pleura NCIT:C3547 Malignant Pleural Neoplasm confirmed cancer of the pleura NCIT:C3547 NCIT MONDO:0006294 pleural cancer oio:hasExactSynonym malignant neoplasm of pleura malignant neoplasm of pleura Malignant Neoplasm of Pleura NCIT:C3547 Malignant Pleural Neoplasm confirmed malignant neoplasm of pleura NCIT:C3547 NCIT @@ -49744,8 +48726,8 @@ MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym mediast MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym thymic malignant germ cell tumor thymic malignant germ cell tumor Thymic Malignant Germ Cell Tumor NCIT:C6446 Malignant Mediastinal Germ Cell Tumor confirmed thymic malignant germ cell tumor NCIT:C6446 NCIT MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma medullomyoblastoma Medullomyoblastoma NCIT:C3706 Medullomyoblastoma confirmed medullomyoblastoma NCIT:C3706 NCIT MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma with myogenic differentiation medullomyoblastoma with myogenic differentiation Medullomyoblastoma with Myogenic Differentiation NCIT:C3706 Medullomyoblastoma confirmed medullomyoblastoma with myogenic differentiation NCIT:C3706 NCIT -MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT +MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of middle Ear epidermoid carcinoma of middle Ear Epidermoid Carcinoma of Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of middle Ear NCIT:C6086 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle Ear epidermoid carcinoma of the middle Ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of the middle Ear NCIT:C6086 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle ear epidermoid carcinoma of the middle ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of the middle ear NCIT:C6086 NCIT @@ -49804,10 +48786,10 @@ MONDO:0006326 ocular melanoma with extraocular extension oio:hasExactSynonym oc MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym eye sebaceous carcinoma eye sebaceous carcinoma Eye Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma confirmed eye sebaceous carcinoma NCIT:C43340 NCIT MONDO:0006327 ocular sebaceous carcinoma oio:hasExactSynonym ocular sebaceous carcinoma ocular sebaceous carcinoma Ocular Sebaceous Carcinoma NCIT:C43340 Eye Sebaceous Carcinoma confirmed ocular sebaceous carcinoma NCIT:C43340 NCIT MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory esthesioneuroblastoma olfactory esthesioneuroblastoma Olfactory Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory esthesioneuroblastoma NCIT:C3789 NCIT -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroblastoma NCIT:C3789 NCIT MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory neuroblastoma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroblastoma NCIT:C3789 NCIT -MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroepithelioma NCIT:C3789 NCIT +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroblastoma olfactory neuroblastoma Olfactory Neuroblastoma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroblastoma NCIT:C3789 NCIT MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroepithelioma NCIT:C3789 NCIT +MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym olfactory neuroepithelioma olfactory neuroepithelioma Olfactory Neuroepithelioma NCIT:C3789 Olfactory Neuroblastoma confirmed olfactory neuroepithelioma NCIT:C3789 NCIT MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoid neoplasm ossifying fibromyxoid neoplasm Ossifying Fibromyxoid Neoplasm NCIT:C6582 Ossifying Fibromyxoid Tumor confirmed ossifying fibromyxoid neoplasm NCIT:C6582 NCIT MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym ossifying fibromyxoma ossifying fibromyxoma Ossifying Fibromyxoma NCIT:C6582 Ossifying Fibromyxoid Tumor confirmed ossifying fibromyxoma NCIT:C6582 NCIT MONDO:0006330 ossifying fibromyxoid tumor oio:hasExactSynonym OFMT NCIT:C6582 Ossifying Fibromyxoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFMT NCIT:C6582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -49825,7 +48807,6 @@ MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation oio:hasExactSynonym ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma with squamous differentiation Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation NCIT:C40061 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation confirmed ovarian endometrioid adenocarcinoma with squamous differentiation NCIT:C40061 NCIT MONDO:0006337 ovarian endometriosis oio:hasExactSynonym ovarian endometriosis ovarian endometriosis Ovarian Endometriosis NCIT:C27628 Ovarian Endometriosis confirmed ovarian endometriosis NCIT:C27628 NCIT MONDO:0006340 ovarian serous adenofibroma oio:hasExactSynonym ovarian serous adenofibroma ovarian serous adenofibroma Ovarian Serous Adenofibroma NCIT:C40031 Ovarian Serous Adenofibroma confirmed ovarian serous adenofibroma NCIT:C40031 NCIT -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym malignant ovarian transitional cell neoplasm malignant ovarian transitional cell neoplasm Malignant Ovarian Transitional Cell Neoplasm NCIT:C4270 Malignant Ovarian Brenner Tumor confirmed malignant ovarian transitional cell neoplasm NCIT:C4270 NCIT MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell cancer ovarian transitional cell cancer Ovarian Transitional Cell Cancer NCIT:C5240 Ovarian Transitional Cell Carcinoma confirmed ovarian transitional cell cancer NCIT:C5240 NCIT MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym ovarian transitional cell carcinoma ovarian transitional cell carcinoma Ovarian Transitional Cell Carcinoma NCIT:C5240 Ovarian Transitional Cell Carcinoma confirmed ovarian transitional cell carcinoma NCIT:C5240 NCIT MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma of ovary transitional cell carcinoma of ovary Transitional Cell Carcinoma of Ovary NCIT:C5240 Ovarian Transitional Cell Carcinoma confirmed transitional cell carcinoma of ovary NCIT:C5240 NCIT @@ -49865,11 +48846,11 @@ MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell NEC G3 pancreatic small cell NEC G3 Pancreatic Small Cell NEC G3 NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma confirmed pancreatic small cell NEC G3 NCIT:C95583 NCIT MONDO:0006348 pancreatic small cell neuroendocrine carcinoma oio:hasExactSynonym pancreatic small cell neuroendocrine carcinoma pancreatic small cell neuroendocrine carcinoma Pancreatic Small Cell Neuroendocrine Carcinoma NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma confirmed pancreatic small cell neuroendocrine carcinoma NCIT:C95583 NCIT MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic neoplasm papillary cystic neoplasm Papillary Cystic Neoplasm NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic neoplasm NCIT:C4179 NCIT -MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic tumor NCIT:C4179 NCIT MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary Cystic Tumor NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic tumor NCIT:C4179 NCIT +MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic tumor NCIT:C4179 NCIT MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional carcinoma papillary transitional carcinoma Papillary Transitional Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional carcinoma NCIT:C4122 NCIT -MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary Transitional Cell Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT +MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT MONDO:0006351 parachordoma oio:hasExactSynonym parachordoma parachordoma Parachordoma NCIT:C6581 Parachordoma confirmed parachordoma NCIT:C6581 NCIT MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym accessory sinus adenoid cystic carcinoma accessory sinus adenoid cystic carcinoma Accessory Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma confirmed accessory sinus adenoid cystic carcinoma NCIT:C6019 NCIT MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma of accessory sinus NCIT:C6019 NCIT @@ -49923,8 +48904,8 @@ MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharyngea MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharynx adenoid cystic carcinoma pharynx adenoid cystic carcinoma Pharynx Adenoid Cystic Carcinoma NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma confirmed pharynx adenoid cystic carcinoma NCIT:C5818 NCIT MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor phosphaturic mesenchymal tumor Phosphaturic Mesenchymal Tumor NCIT:C67237 Phosphaturic Mesenchymal Tumor confirmed phosphaturic mesenchymal tumor NCIT:C67237 NCIT MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor, mixed connective tissue type phosphaturic mesenchymal tumor, mixed connective tissue type Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type NCIT:C67237 Phosphaturic Mesenchymal Tumor confirmed phosphaturic mesenchymal tumor, mixed connective tissue type NCIT:C67237 NCIT -MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumor of intermediate differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma pituicytoma Pituicytoma NCIT:C94524 Pituicytoma confirmed pituicytoma NCIT:C94524 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma (WHO grade I) pituicytoma (WHO grade I) Pituicytoma (WHO Grade I) NCIT:C94524 Pituicytoma confirmed pituicytoma (WHO grade I) NCIT:C94524 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym posterior pituitary astrocytoma posterior pituitary astrocytoma Posterior Pituitary Astrocytoma NCIT:C94524 Pituicytoma confirmed posterior pituitary astrocytoma NCIT:C94524 NCIT @@ -49944,8 +48925,8 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym placental hemangioma pla MONDO:0006377 pleural biphasic mesothelioma oio:hasExactSynonym pleural biphasic mesothelioma pleural biphasic mesothelioma Pleural Biphasic Mesothelioma NCIT:C45665 Pleural Biphasic Mesothelioma confirmed pleural biphasic mesothelioma NCIT:C45665 NCIT MONDO:0006378 pleural epithelioid mesothelioma oio:hasExactSynonym pleural epithelioid mesothelioma pleural epithelioid mesothelioma Pleural Epithelioid Mesothelioma NCIT:C45662 Pleural Epithelioid Mesothelioma confirmed pleural epithelioid mesothelioma NCIT:C45662 NCIT MONDO:0006380 pleural sarcomatoid mesothelioma oio:hasExactSynonym pleural sarcomatoid mesothelioma pleural sarcomatoid mesothelioma Pleural Sarcomatoid Mesothelioma NCIT:C45663 Pleural Sarcomatoid Mesothelioma confirmed pleural sarcomatoid mesothelioma NCIT:C45663 NCIT -MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT +MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of the thyroid gland poorly differentiated carcinoma of the thyroid gland Poorly Differentiated Carcinoma of the Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated carcinoma of the thyroid gland NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of thyroid gland poorly differentiated carcinoma of thyroid gland Poorly Differentiated Carcinoma of Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated carcinoma of thyroid gland NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated thyroid carcinoma poorly differentiated thyroid carcinoma Poorly Differentiated Thyroid Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated thyroid carcinoma NCIT:C6040 NCIT @@ -50049,10 +49030,10 @@ MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cel MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym large cell undifferentiated salivary gland carcinoma large cell undifferentiated salivary gland carcinoma Large Cell Undifferentiated Salivary Gland Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma confirmed large cell undifferentiated salivary gland carcinoma NCIT:C35735 NCIT MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym salivary gland large cell carcinoma salivary gland large cell carcinoma Salivary Gland Large Cell Carcinoma NCIT:C35735 Salivary Gland Large Cell Carcinoma confirmed salivary gland large cell carcinoma NCIT:C35735 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym carcinoma, spindle cell, malignant carcinoma, spindle cell, malignant CARCINOMA, SPINDLE CELL, MALIGNANT NCIT:C27004 Sarcomatoid Carcinoma confirmed carcinoma, spindle cell, malignant NCIT:C27004 NCIT -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed pseudosarcomatous carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed pseudosarcomatous carcinoma NCIT:C27004 NCIT -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed pseudosarcomatous carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym spindle cell carcinoma spindle cell carcinoma Spindle Cell Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed spindle cell carcinoma NCIT:C27004 NCIT MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid Mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma confirmed sarcomatoid mesothelioma NCIT:C45655 NCIT MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma confirmed sarcomatoid mesothelioma NCIT:C45655 NCIT @@ -50158,8 +49139,8 @@ MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym fibroma of the tendon s MONDO:0006442 tendon sheath fibroma oio:hasExactSynonym tendon sheath fibroma tendon sheath fibroma Tendon Sheath Fibroma NCIT:C6485 Tendon Sheath Fibroma confirmed tendon sheath fibroma NCIT:C6485 NCIT MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid cyst with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy confirmed dermoid cyst with malignant transformation NCIT:C4289 NCIT MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym dermoid cyst with malignant transformation dermoid cyst with malignant transformation Dermoid Cyst with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy confirmed dermoid cyst with malignant transformation NCIT:C4289 NCIT -MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy confirmed teratoma with malignant transformation NCIT:C4289 NCIT MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with malignant transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy confirmed teratoma with malignant transformation NCIT:C4289 NCIT +MONDO:0006444 teratoma with malignant transformation oio:hasExactSynonym teratoma with malignant transformation teratoma with malignant transformation Teratoma with Malignant Transformation NCIT:C4289 Teratoma with Somatic-Type Malignancy confirmed teratoma with malignant transformation NCIT:C4289 NCIT MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of testis embryonal carcinoma of testis Embryonal Carcinoma of Testis NCIT:C6341 Testicular Embryonal Carcinoma confirmed embryonal carcinoma of testis NCIT:C6341 NCIT MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym embryonal carcinoma of the testis embryonal carcinoma of the testis Embryonal Carcinoma of the Testis NCIT:C6341 Testicular Embryonal Carcinoma confirmed embryonal carcinoma of the testis NCIT:C6341 NCIT MONDO:0006446 testicular embryonal carcinoma oio:hasExactSynonym testicular embryonal carcinoma testicular embryonal carcinoma Testicular Embryonal Carcinoma NCIT:C6341 Testicular Embryonal Carcinoma confirmed testicular embryonal carcinoma NCIT:C6341 NCIT @@ -50188,8 +49169,8 @@ MONDO:0006458 thymoma type B3 oio:hasExactSynonym epithelial thymoma epithelial MONDO:0006458 thymoma type B3 oio:hasExactSynonym malignant thymoma type B3 malignant thymoma type B3 Malignant Thymoma Type B3 NCIT:C7997 Thymoma Type B3 confirmed malignant thymoma type B3 NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym squamoid thymoma squamoid thymoma Squamoid Thymoma NCIT:C7997 Thymoma Type B3 confirmed squamoid thymoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym thymoma type B3 thymoma type B3 Thymoma Type B3 NCIT:C7997 Thymoma Type B3 confirmed thymoma type B3 NCIT:C7997 NCIT -MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT +MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym well-differentiated thymic carcinoma well-differentiated thymic carcinoma Well-Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 confirmed well-differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-predominant thymoma lymphocyte-predominant thymoma Lymphocyte-Predominant Thymoma NCIT:C6887 Thymoma Type B1 confirmed lymphocyte-predominant thymoma NCIT:C6887 NCIT MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-rich thymoma lymphocyte-rich thymoma Lymphocyte-Rich Thymoma NCIT:C6887 Thymoma Type B1 confirmed lymphocyte-rich thymoma NCIT:C6887 NCIT @@ -50232,8 +49213,8 @@ MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExact MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid carcinoma undifferentiated thyroid carcinoma Undifferentiated Thyroid Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma confirmed undifferentiated thyroid carcinoma NCIT:C3878 NCIT MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid gland carcinoma undifferentiated thyroid gland carcinoma Undifferentiated Thyroid Gland Carcinoma NCIT:C3878 Thyroid Gland Anaplastic Carcinoma confirmed undifferentiated thyroid gland carcinoma NCIT:C3878 NCIT MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated thyroid tumor undifferentiated thyroid tumor Undifferentiated Thyroid Tumor NCIT:C3878 Thyroid Gland Anaplastic Carcinoma confirmed undifferentiated thyroid tumor NCIT:C3878 NCIT -MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma confirmed tibial adamantinoma NCIT:C8461 NCIT MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial adamantinoma NCIT:C8461 Tibial Adamantinoma confirmed tibial adamantinoma NCIT:C8461 NCIT +MONDO:0006469 tibial adamantinoma oio:hasExactSynonym tibial adamantinoma tibial adamantinoma Tibial Adamantinoma NCIT:C8461 Tibial Adamantinoma confirmed tibial adamantinoma NCIT:C8461 NCIT MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of the tonsil SCC of the tonsil SCC of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma confirmed SCC of the tonsil NCIT:C8183 NCIT MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym SCC of tonsil SCC of tonsil SCC of Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma confirmed SCC of tonsil NCIT:C8183 NCIT MONDO:0006470 tonsillar squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tonsil squamous cell carcinoma of the tonsil Squamous Cell Carcinoma of the Tonsil NCIT:C8183 Tonsillar Squamous Cell Carcinoma confirmed squamous cell carcinoma of the tonsil NCIT:C8183 NCIT @@ -50246,8 +49227,8 @@ MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym adenoid cys MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym trachea adenoid cystic carcinoma trachea adenoid cystic carcinoma Trachea Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma confirmed trachea adenoid cystic carcinoma NCIT:C6051 NCIT MONDO:0006471 tracheal adenoid cystic carcinoma oio:hasExactSynonym tracheal adenoid cystic carcinoma tracheal adenoid cystic carcinoma Tracheal Adenoid Cystic Carcinoma NCIT:C6051 Tracheal Adenoid Cystic Carcinoma confirmed tracheal adenoid cystic carcinoma NCIT:C6051 NCIT MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym carcinoma, urothelial, malignant carcinoma, urothelial, malignant CARCINOMA, UROTHELIAL, MALIGNANT NCIT:C2930 Transitional Cell Carcinoma confirmed carcinoma, urothelial, malignant NCIT:C2930 NCIT -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma confirmed transitional carcinoma NCIT:C2930 NCIT MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional Carcinoma NCIT:C2930 Transitional Cell Carcinoma confirmed transitional carcinoma NCIT:C2930 NCIT +MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional carcinoma transitional carcinoma Transitional carcinoma NCIT:C2930 Transitional Cell Carcinoma confirmed transitional carcinoma NCIT:C2930 NCIT MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional Cell Carcinoma NCIT:C2930 Transitional Cell Carcinoma confirmed transitional cell carcinoma NCIT:C2930 NCIT MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym transitional cell carcinoma transitional cell carcinoma Transitional cell carcinoma NCIT:C2930 Transitional Cell Carcinoma confirmed transitional cell carcinoma NCIT:C2930 NCIT MONDO:0006476 undifferentiated gallbladder carcinoma oio:hasExactSynonym anaplastic carcinoma of gallbladder anaplastic carcinoma of gallbladder Anaplastic Carcinoma of Gallbladder NCIT:C9167 Gallbladder Undifferentiated Carcinoma confirmed anaplastic carcinoma of gallbladder NCIT:C9167 NCIT @@ -50317,16 +49298,16 @@ MONDO:0006489 vaginal melanoma oio:hasExactSynonym vaginal melanoma vaginal mel MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell carcinoma vaginal squamous cell carcinoma Vaginal Squamous Cell Carcinoma NCIT:C180915 Vaginal Squamous Cell Carcinoma confirmed vaginal squamous cell carcinoma NCIT:C180915 NCIT MONDO:0006490 vaginal squamous cell carcinoma oio:hasExactSynonym vaginal squamous cell cancer, NOS vaginal squamous cell cancer, NOS Vaginal Squamous Cell Cancer, NOS NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified confirmed vaginal squamous cell cancer, NOS NCIT:C7736 NCIT MONDO:0006491 vulvar lichen sclerosus oio:hasExactSynonym vulvar lichen sclerosus vulvar lichen sclerosus Vulvar Lichen Sclerosus NCIT:C27723 Vulvar Lichen Sclerosus confirmed vulvar lichen sclerosus NCIT:C27723 NCIT -MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor confirmed Warthin tumor NCIT:C2854 NCIT MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor Warthin tumor Warthin Tumor NCIT:C2854 Warthin Tumor confirmed Warthin tumor NCIT:C2854 NCIT +MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin tumor NCIT:C2854 Warthin Tumor confirmed Warthin tumor NCIT:C2854 NCIT MONDO:0006493 Warthin tumor oio:hasExactSynonym Warthin's tumor Warthin's tumor Warthin's Tumor NCIT:C2854 Warthin Tumor confirmed Warthin's tumor NCIT:C2854 NCIT MONDO:0006493 Warthin tumor oio:hasExactSynonym adenolymphoma adenolymphoma Adenolymphoma NCIT:C2854 Warthin Tumor confirmed adenolymphoma NCIT:C2854 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of colon adenomatous polyp of colon Adenomatous Polyp of Colon NCIT:C96479 Colon Adenomatous Polyp confirmed adenomatous polyp of colon NCIT:C96479 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of the colon adenomatous polyp of the colon Adenomatous Polyp of the Colon NCIT:C96479 Colon Adenomatous Polyp confirmed adenomatous polyp of the colon NCIT:C96479 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colon adenomatous polyp colon adenomatous polyp Colon Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp confirmed colon adenomatous polyp NCIT:C96479 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colonic adenomatous polyp colonic adenomatous polyp Colonic Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp confirmed colonic adenomatous polyp NCIT:C96479 NCIT -MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma HAMARTOMA NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT +MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym benign hemangioma benign hemangioma Benign Hemangioma NCIT:C3085 Hemangioma confirmed benign hemangioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma hemangioma Hemangioma NCIT:C3085 Hemangioma confirmed hemangioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma, benign hemangioma, benign HEMANGIOMA, BENIGN NCIT:C3085 Hemangioma confirmed hemangioma, benign NCIT:C3085 NCIT @@ -50346,14 +49327,11 @@ MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal neoplasm malig MONDO:0006519 rectal cancer oio:hasExactSynonym malignant rectal tumor malignant rectal tumor Malignant Rectal Tumor NCIT:C7418 Malignant Rectal Neoplasm confirmed malignant rectal tumor NCIT:C7418 NCIT MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of rectum malignant tumor of rectum Malignant Tumor of Rectum NCIT:C7418 Malignant Rectal Neoplasm confirmed malignant tumor of rectum NCIT:C7418 NCIT MONDO:0006519 rectal cancer oio:hasExactSynonym malignant tumor of the rectum malignant tumor of the rectum Malignant Tumor of the Rectum NCIT:C7418 Malignant Rectal Neoplasm confirmed malignant tumor of the rectum NCIT:C7418 NCIT -MONDO:0006519 rectal cancer oio:hasExactSynonym cancer of rectum cancer of rectum Cancer of Rectum NCIT:C9382 Rectal Carcinoma confirmed cancer of rectum NCIT:C9382 NCIT -MONDO:0006519 rectal cancer oio:hasExactSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma confirmed rectal cancer NCIT:C9382 NCIT -MONDO:0006519 rectal cancer oio:hasExactSynonym rectum cancer rectum cancer Rectum Cancer NCIT:C9382 Rectal Carcinoma confirmed rectum cancer NCIT:C9382 NCIT MONDO:0006520 Achenbach syndrome oio:hasExactSynonym Achenbach syndrome Achenbach syndrome Achenbach Syndrome NCIT:C35467 Achenbach Syndrome confirmed Achenbach syndrome NCIT:C35467 NCIT MONDO:0006522 acquired keratosis oio:hasExactSynonym acquired keratoderma acquired keratoderma Acquired Keratoderma NCIT:C34746 Acquired Keratoderma confirmed acquired keratoderma NCIT:C34746 NCIT MONDO:0006525 allergic contact dermatitis oio:hasExactSynonym allergic contact dermatitis allergic contact dermatitis Allergic Contact Dermatitis NCIT:C26998 Allergic Contact Dermatitis confirmed allergic contact dermatitis NCIT:C26998 NCIT -MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma confirmed cholesteatoma NCIT:C2944 NCIT MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma Cholesteatoma NCIT:C2944 Cholesteatoma confirmed cholesteatoma NCIT:C2944 NCIT +MONDO:0006530 cholesteatoma oio:hasExactSynonym cholesteatoma cholesteatoma CHOLESTEATOMA NCIT:C2944 Cholesteatoma confirmed cholesteatoma NCIT:C2944 NCIT MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of middle ear cholesteatoma of middle ear Cholesteatoma of Middle Ear NCIT:C3654 Middle Ear Cholesteatoma confirmed cholesteatoma of middle ear NCIT:C3654 NCIT MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym cholesteatoma of the middle ear cholesteatoma of the middle ear Cholesteatoma of the Middle Ear NCIT:C3654 Middle Ear Cholesteatoma confirmed cholesteatoma of the middle ear NCIT:C3654 NCIT MONDO:0006533 cholesteatoma of middle ear oio:hasExactSynonym middle ear cholesteatoma middle ear cholesteatoma Middle Ear Cholesteatoma NCIT:C3654 Middle Ear Cholesteatoma confirmed middle ear cholesteatoma NCIT:C3654 NCIT @@ -50446,13 +49424,11 @@ MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym eosinophil MONDO:0006634 pituitary gland acidophil adenoma oio:hasExactSynonym pituitary gland acidophil adenoma pituitary gland acidophil adenoma Pituitary Gland Acidophil Adenoma NCIT:C6780 Pituitary Gland Acidophil Adenoma confirmed pituitary gland acidophil adenoma NCIT:C6780 NCIT MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute renal failure with tubular necrosis acute renal failure with tubular necrosis Acute Renal Failure with Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis confirmed acute renal failure with tubular necrosis NCIT:C34749 NCIT MONDO:0006637 acute kidney tubular necrosis oio:hasExactSynonym acute tubular necrosis acute tubular necrosis Acute Tubular Necrosis NCIT:C34749 Acute Tubular Necrosis confirmed acute tubular necrosis NCIT:C34749 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed Adenoid Cystic Carcinoma NCIT:C2970 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed Adenoid Cystic Carcinoma NCIT:C2970 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adenocarcinoma, adrenocortical, malignant adenocarcinoma, adrenocortical, malignant Adenocarcinoma, Adrenocortical, Malignant NCIT:C9325 Adrenal Cortical Carcinoma confirmed adenocarcinoma, adrenocortical, malignant NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex adenocarcinoma adrenal cortex adenocarcinoma Adrenal Cortex Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortex adenocarcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex carcinoma adrenal cortex carcinoma Adrenal Cortex Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortex carcinoma NCIT:C9325 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical adenocarcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal Cortical Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical adenocarcinoma NCIT:C9325 NCIT +MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical adenocarcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal Cortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma adrenocortical carcinoma Adrenocortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenocortical carcinoma NCIT:C9325 NCIT @@ -50464,8 +49440,8 @@ MONDO:0006643 alcoholic cardiomyopathy oio:hasExactSynonym alcoholic cardiomyop MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym alcoholic cirrhosis alcoholic cirrhosis Alcoholic Cirrhosis NCIT:C34782 Alcoholic Cirrhosis confirmed alcoholic cirrhosis NCIT:C34782 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym angioleiomyoma angioleiomyoma Angioleiomyoma NCIT:C3747 Angioleiomyoma confirmed angioleiomyoma NCIT:C3747 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym angiomyoma angiomyoma Angiomyoma NCIT:C3747 Angioleiomyoma confirmed angiomyoma NCIT:C3747 NCIT -MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular Leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT +MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT MONDO:0006651 anterior uveitis oio:hasExactSynonym anterior uveitis anterior uveitis Anterior Uveitis NCIT:C35109 Anterior Uveitis confirmed anterior uveitis NCIT:C35109 NCIT MONDO:0006654 anthracosis oio:hasExactSynonym coal miner's pneumoconiosis coal miner's pneumoconiosis Coal Miner's Pneumoconiosis NCIT:C34390 Anthracosis confirmed coal miner's pneumoconiosis NCIT:C34390 NCIT MONDO:0006660 arthus reaction oio:hasExactSynonym arthus phenomenon arthus phenomenon Arthus Phenomenon NCIT:C34400 Arthus Reaction confirmed arthus phenomenon NCIT:C34400 NCIT @@ -50534,12 +49510,9 @@ MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign neoplasm of t MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of duodenum benign tumor of duodenum Benign Tumor of Duodenum NCIT:C4775 Benign Duodenal Neoplasm confirmed benign tumor of duodenum NCIT:C4775 NCIT MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym benign tumor of the duodenum benign tumor of the duodenum Benign Tumor of the Duodenum NCIT:C4775 Benign Duodenal Neoplasm confirmed benign tumor of the duodenum NCIT:C4775 NCIT MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym poroma poroma Poroma NCIT:C27273 Poroma confirmed poroma NCIT:C27273 NCIT -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma confirmed eccrine acrospiroma NCIT:C7563 NCIT -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma confirmed eccrine acrospiroma NCIT:C7563 NCIT MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella empty sella Empty Sella NCIT:C84686 Empty Sella Syndrome confirmed empty sella NCIT:C84686 NCIT MONDO:0006740 empty sella syndrome oio:hasExactSynonym empty sella syndrome empty sella syndrome Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome confirmed empty sella syndrome NCIT:C84686 NCIT MONDO:0006742 endemic goiter oio:hasExactSynonym simple goiter simple goiter Simple Goiter NCIT:C35023 Endemic Goiter confirmed simple goiter NCIT:C35023 NCIT -MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym Empty Sella Syndrome NCIT:C84686 Empty Sella Syndrome confirmed Empty Sella Syndrome NCIT:C84686 NCIT MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrial stromal sarcoma endometrial stromal sarcoma Endometrial Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma confirmed endometrial stromal sarcoma NCIT:C8973 NCIT MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym endometrioid stromal sarcoma endometrioid stromal sarcoma Endometrioid Stromal Sarcoma NCIT:C8973 Endometrioid Stromal Sarcoma confirmed endometrioid stromal sarcoma NCIT:C8973 NCIT MONDO:0006745 endometrioid stromal sarcoma oio:hasExactSynonym stromal sarcoma, endometrial, malignant stromal sarcoma, endometrial, malignant STROMAL SARCOMA, ENDOMETRIAL, MALIGNANT NCIT:C8973 Endometrioid Stromal Sarcoma confirmed stromal sarcoma, endometrial, malignant NCIT:C8973 NCIT @@ -50591,17 +49564,17 @@ MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis Carcin MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis carcinomatosa mastitis carcinomatosa Mastitis Carcinomatosa NCIT:C4001 Breast Inflammatory Carcinoma confirmed mastitis carcinomatosa NCIT:C4001 NCIT MONDO:0006806 intermediate uveitis oio:hasExactSynonym intermediate uveitis intermediate uveitis Intermediate Uveitis NCIT:C35110 Intermediate Uveitis confirmed intermediate uveitis NCIT:C35110 NCIT MONDO:0006807 intestinal perforation oio:hasExactSynonym perforation of intestine perforation of intestine Perforation of Intestine NCIT:C39611 Intestinal Perforation confirmed perforation of intestine NCIT:C39611 NCIT -MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal Nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT +MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT MONDO:0006814 iritis oio:hasExactSynonym iritis iritis Iritis NCIT:C50621 Iritis confirmed iritis NCIT:C50621 NCIT MONDO:0006816 arthropathy oio:hasExactSynonym Joint disorder Joint disorder Joint Disorder NCIT:C35760 Arthropathy confirmed Joint disorder NCIT:C35760 NCIT MONDO:0006816 arthropathy oio:hasExactSynonym arthropathy arthropathy Arthropathy NCIT:C35760 Arthropathy confirmed arthropathy NCIT:C35760 NCIT MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteogenic sarcoma juxtacortical osteogenic sarcoma Juxtacortical Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed juxtacortical osteogenic sarcoma NCIT:C8969 NCIT -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed juxtacortical osteosarcoma NCIT:C8969 NCIT MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed juxtacortical osteosarcoma NCIT:C8969 NCIT +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym juxtacortical osteosarcoma juxtacortical osteosarcoma Juxtacortical Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed juxtacortical osteosarcoma NCIT:C8969 NCIT MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteogenic sarcoma parosteal osteogenic sarcoma Parosteal Osteogenic Sarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed parosteal osteogenic sarcoma NCIT:C8969 NCIT -MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed parosteal osteosarcoma NCIT:C8969 NCIT MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal Osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed parosteal osteosarcoma NCIT:C8969 NCIT +MONDO:0006817 juxtacortical osteosarcoma oio:hasExactSynonym parosteal osteosarcoma parosteal osteosarcoma Parosteal osteosarcoma NCIT:C8969 Parosteal Osteosarcoma confirmed parosteal osteosarcoma NCIT:C8969 NCIT MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym 47,XXY syndrome 47,XXY syndrome 47,XXY Syndrome NCIT:C34752 Klinefelter Syndrome confirmed 47,XXY syndrome NCIT:C34752 NCIT MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter syndrome Klinefelter syndrome Klinefelter Syndrome NCIT:C34752 Klinefelter Syndrome confirmed Klinefelter syndrome NCIT:C34752 NCIT MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym Klinefelter's syndrome Klinefelter's syndrome Klinefelter's Syndrome NCIT:C34752 Klinefelter Syndrome confirmed Klinefelter's syndrome NCIT:C34752 NCIT @@ -50617,7 +49590,6 @@ MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma oio:hasE MONDO:0006830 leukoplakia of penis oio:hasExactSynonym kraurosis penis kraurosis penis Kraurosis Penis NCIT:C3151 Penile Leukoplakia confirmed kraurosis penis NCIT:C3151 NCIT MONDO:0006830 leukoplakia of penis oio:hasExactSynonym leukoplakia of the penis leukoplakia of the penis Leukoplakia of the Penis NCIT:C3151 Penile Leukoplakia confirmed leukoplakia of the penis NCIT:C3151 NCIT MONDO:0006830 leukoplakia of penis oio:hasExactSynonym penile leukoplakia penile leukoplakia Penile Leukoplakia NCIT:C3151 Penile Leukoplakia confirmed penile leukoplakia NCIT:C3151 NCIT -MONDO:0006834 lip cancer oio:hasExactSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma confirmed lip cancer NCIT:C3490 NCIT MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip neoplasm malignant Lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm confirmed malignant Lip neoplasm NCIT:C7485 NCIT MONDO:0006834 lip cancer oio:hasExactSynonym malignant Lip tumor malignant Lip tumor Malignant Lip Tumor NCIT:C7485 Malignant Lip Neoplasm confirmed malignant Lip tumor NCIT:C7485 NCIT MONDO:0006834 lip cancer oio:hasExactSynonym malignant lip neoplasm malignant lip neoplasm Malignant Lip Neoplasm NCIT:C7485 Malignant Lip Neoplasm confirmed malignant lip neoplasm NCIT:C7485 NCIT @@ -50642,14 +49614,11 @@ MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of maxillar MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym neoplasm of the maxillary sinus neoplasm of the maxillary sinus Neoplasm of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm confirmed neoplasm of the maxillary sinus NCIT:C3219 NCIT MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of maxillary sinus tumor of maxillary sinus Tumor of Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm confirmed tumor of maxillary sinus NCIT:C3219 NCIT MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of the maxillary sinus tumor of the maxillary sinus Tumor of the Maxillary Sinus NCIT:C3219 Maxillary Sinus Neoplasm confirmed tumor of the maxillary sinus NCIT:C3219 NCIT -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym meconium aspiration syndrome meconium aspiration syndrome Meconium Aspiration Syndrome NCIT:C87093 Meconium Aspiration Syndrome confirmed meconium aspiration syndrome NCIT:C87093 NCIT MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym neonatal aspiration of meconium neonatal aspiration of meconium Neonatal Aspiration of Meconium NCIT:C87093 Meconium Aspiration Syndrome confirmed neonatal aspiration of meconium NCIT:C87093 NCIT MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C27374 NCIT -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT +MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT MONDO:0006854 mesenchymoma oio:hasExactSynonym mesenchymoma mesenchymoma Mesenchymoma NCIT:C3233 Mesenchymoma confirmed mesenchymoma NCIT:C3233 NCIT MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial neoplasm mesothelial neoplasm Mesothelial Neoplasm NCIT:C3786 Mesothelial Neoplasm confirmed mesothelial neoplasm NCIT:C3786 NCIT MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial tumor mesothelial tumor Mesothelial Tumor NCIT:C3786 Mesothelial Neoplasm confirmed mesothelial tumor NCIT:C3786 NCIT @@ -50659,13 +49628,13 @@ MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym adenoma, mucinous, benig MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous adenoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous adenoma NCIT:C2973 NCIT MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous adenoma mucinous adenoma Mucinous Adenoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous adenoma NCIT:C2973 NCIT MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystadenoma mucinous cystadenoma Mucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous cystadenoma NCIT:C2973 NCIT -MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous cystoma NCIT:C2973 NCIT MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous cystoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous cystoma NCIT:C2973 NCIT +MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinous cystoma Mucinous Cystoma NCIT:C2973 Mucinous Cystadenoma confirmed mucinous cystoma NCIT:C2973 NCIT MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym pseudomucinous cystadenoma pseudomucinous cystadenoma Pseudomucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma confirmed pseudomucinous cystadenoma NCIT:C2973 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym chloroma chloroma Chloroma NCIT:C3520 Myeloid Sarcoma confirmed chloroma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym extramedullary myeloid tumor extramedullary myeloid tumor Extramedullary Myeloid Tumor NCIT:C3520 Myeloid Sarcoma confirmed extramedullary myeloid tumor NCIT:C3520 NCIT -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT +MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym sarcoma, myeloid, malignant sarcoma, myeloid, malignant SARCOMA, MYELOID, MALIGNANT NCIT:C3520 Myeloid Sarcoma confirmed sarcoma, myeloid, malignant NCIT:C3520 NCIT MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma myxosarcoma Myxosarcoma NCIT:C3255 Myxosarcoma confirmed myxosarcoma NCIT:C3255 NCIT MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma, malignant myxosarcoma, malignant MYXOSARCOMA, MALIGNANT NCIT:C3255 Myxosarcoma confirmed myxosarcoma, malignant NCIT:C3255 NCIT @@ -50734,13 +49703,13 @@ MONDO:0006964 secondary hyperparathyroidism oio:hasExactSynonym secondary hyper MONDO:0006966 secondary Parkinson disease oio:hasExactSynonym secondary Parkinsonism secondary Parkinsonism Secondary Parkinsonism NCIT:C34899 Secondary Parkinsonism confirmed secondary Parkinsonism NCIT:C34899 NCIT MONDO:0006969 sialadenitis oio:hasExactSynonym sialitis sialitis Sialitis NCIT:C115165 Sialitis confirmed sialitis NCIT:C115165 NCIT MONDO:0006969 sialadenitis oio:hasExactSynonym sialoadenitis sialoadenitis Sialoadenitis NCIT:C26882 Sialadenitis confirmed sialoadenitis NCIT:C26882 NCIT -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of adnexa carcinoma of adnexa Carcinoma of Adnexa NCIT:C3775 Adnexal Carcinoma confirmed carcinoma of adnexa NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of skin appendage carcinoma of skin appendage Carcinoma of Skin Appendage NCIT:C3775 Adnexal Carcinoma confirmed carcinoma of skin appendage NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma, adnexal, malignant carcinoma, adnexal, malignant CARCINOMA, ADNEXAL, MALIGNANT NCIT:C3775 Adnexal Carcinoma confirmed carcinoma, adnexal, malignant NCIT:C3775 NCIT -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma confirmed skin appendage carcinoma NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin Appendage Carcinoma NCIT:C3775 Adnexal Carcinoma confirmed skin appendage carcinoma NCIT:C3775 NCIT +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym skin appendage carcinoma skin appendage carcinoma Skin appendage carcinoma NCIT:C3775 Adnexal Carcinoma confirmed skin appendage carcinoma NCIT:C3775 NCIT MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small cell sarcoma NCIT:C3746 Small Cell Sarcoma confirmed small cell sarcoma NCIT:C3746 NCIT MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcoma small cell sarcoma Small Cell Sarcoma NCIT:C3746 Small Cell Sarcoma confirmed small cell sarcoma NCIT:C3746 NCIT MONDO:0006974 small cell sarcoma oio:hasExactSynonym small cell sarcomas small cell sarcomas Small Cell Sarcomas NCIT:C3746 Small Cell Sarcoma confirmed small cell sarcomas NCIT:C3746 NCIT @@ -50773,7 +49742,6 @@ MONDO:0006989 suppurative periapical periodontitis oio:hasExactSynonym periapic MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym spinal cord syndrome spinal cord syndrome Spinal Cord Syndrome NCIT:C99080 Tethered Spinal Cord Syndrome confirmed spinal cord syndrome NCIT:C99080 NCIT MONDO:0006995 tethered spinal cord syndrome oio:hasExactSynonym tethered cord tethered cord Tethered Cord NCIT:C99080 Tethered Spinal Cord Syndrome confirmed tethered cord NCIT:C99080 NCIT MONDO:0006996 thyroid crisis oio:hasExactSynonym thyroid storm thyroid storm Thyroid Storm NCIT:C112836 Thyroid Storm confirmed thyroid storm NCIT:C112836 NCIT -MONDO:0006998 tonsil cancer oio:hasExactSynonym tonsil cancer tonsil cancer Tonsil Cancer NCIT:C4825 Tonsillar Carcinoma confirmed tonsil cancer NCIT:C4825 NCIT MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of the tonsil malignant neoplasm of the tonsil Malignant Neoplasm of the Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm confirmed malignant neoplasm of the tonsil NCIT:C7404 NCIT MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant neoplasm of tonsil malignant neoplasm of tonsil Malignant Neoplasm of Tonsil NCIT:C7404 Malignant Tonsillar Neoplasm confirmed malignant neoplasm of tonsil NCIT:C7404 NCIT MONDO:0006998 tonsil cancer oio:hasExactSynonym malignant tonsil neoplasm malignant tonsil neoplasm Malignant Tonsil Neoplasm NCIT:C7404 Malignant Tonsillar Neoplasm confirmed malignant tonsil neoplasm NCIT:C7404 NCIT @@ -50834,7 +49802,6 @@ MONDO:0007074 ainhum oio:hasExactSynonym ainhum ainhum Ainhum NCIT:C84544 Ainhu MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance confirmed Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 NCIT MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism Type 1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance confirmed Pseudohypoparathyroidism type 1A NCIT:C129721 NCIT MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym PHP1A PHP1A PHP1a NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHP1A NCIT:C129721 NCIT -MONDO:0007078 pseudohypoparathyroidism type 1A oio:hasExactSynonym Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance confirmed Albright hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 NCIT MONDO:0007079 alcohol dependence oio:hasExactSynonym alcohol dependence alcohol dependence Alcohol Dependence NCIT:C93040 Alcohol Dependence confirmed alcohol dependence NCIT:C93040 NCIT MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym amyloid neuropathies, familial amyloid neuropathies, familial Amyloid Neuropathies, Familial NCIT:C84554 Familial Amyloid Neuropathy confirmed amyloid neuropathies, familial NCIT:C84554 NCIT MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym familial amyloid polyneuropathy familial amyloid polyneuropathy Familial Amyloid Polyneuropathy NCIT:C84554 Familial Amyloid Neuropathy confirmed familial amyloid polyneuropathy NCIT:C84554 NCIT @@ -50858,8 +49825,8 @@ MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congeni MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome obstructive sleep apnea syndrome Obstructive Sleep Apnea Syndrome NCIT:C27168 Obstructive Sleep Apnea Syndrome confirmed obstructive sleep apnea syndrome NCIT:C27168 NCIT MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym cerebral arteriovenous malformation cerebral arteriovenous malformation Cerebral Arteriovenous Malformation NCIT:C2936 Cerebral Arteriovenous Malformation/Hemangioma confirmed cerebral arteriovenous malformation NCIT:C2936 NCIT MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym Stickler syndrome type 1 Stickler syndrome type 1 Stickler Syndrome Type 1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Stickler syndrome type 1 NCIT:C168733 NCIT -MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease confirmed autoimmune disease NCIT:C2889 NCIT MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune disease NCIT:C2889 Autoimmune Disease confirmed autoimmune disease NCIT:C2889 NCIT +MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disease autoimmune disease Autoimmune Disease NCIT:C2889 Autoimmune Disease confirmed autoimmune disease NCIT:C2889 NCIT MONDO:0007179 autoimmune disease oio:hasExactSynonym autoimmune disorder autoimmune disorder Autoimmune Disorder NCIT:C2889 Autoimmune Disease confirmed autoimmune disorder NCIT:C2889 NCIT MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym Machado-Joseph disease Machado-Joseph disease Machado-Joseph Disease NCIT:C84830 Spinocerebellar Ataxia Type 3 confirmed Machado-Joseph disease NCIT:C84830 NCIT MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym spinocerebellar ataxia type 3 spinocerebellar ataxia type 3 Spinocerebellar Ataxia Type 3 NCIT:C84830 Spinocerebellar Ataxia Type 3 confirmed spinocerebellar ataxia type 3 NCIT:C84830 NCIT @@ -50886,8 +49853,8 @@ MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym bean syndrome bean syn MONDO:0007203 blue rubber bleb nevus oio:hasExactSynonym blue rubber bleb nevus blue rubber bleb nevus Blue Rubber Bleb Nevus NCIT:C4486 Blue Rubber Bleb Nevus confirmed blue rubber bleb nevus NCIT:C4486 NCIT MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym Hardcastle's syndrome Hardcastle's syndrome Hardcastle's Syndrome NCIT:C122660 Hardcastle's Syndrome confirmed Hardcastle's syndrome NCIT:C122660 NCIT MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym DMS-MFH NCIT:C122660 Hardcastle's Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DMS-MFH NCIT:C122660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant confirmed branchial cleft NCIT:C104813 NCIT MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial cleft NCIT:C104813 Branchial Cleft Remnant confirmed branchial cleft NCIT:C104813 NCIT +MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft branchial cleft Branchial Cleft NCIT:C104813 Branchial Cleft Remnant confirmed branchial cleft NCIT:C104813 NCIT MONDO:0007233 second branchial cleft anomaly oio:hasExactSynonym branchial cleft remnant branchial cleft remnant Branchial Cleft Remnant NCIT:C104813 Branchial Cleft Remnant confirmed branchial cleft remnant NCIT:C104813 NCIT MONDO:0007238 amastia oio:hasExactSynonym amastia amastia Amastia NCIT:C118459 Amastia confirmed amastia NCIT:C118459 NCIT MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym Lenegre's disease Lenegre's disease Lenegre's Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia confirmed Lenegre's disease NCIT:C126651 NCIT @@ -50898,11 +49865,8 @@ MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym Burkitt's lymphoma Burkitt's MONDO:0007243 Burkitt lymphoma oio:hasExactSynonym small non-cleaved cell lymphoma, Burkitt's type small non-cleaved cell lymphoma, Burkitt's type Small Non-Cleaved Cell Lymphoma, Burkitt's Type NCIT:C2912 Burkitt Lymphoma confirmed small non-cleaved cell lymphoma, Burkitt's type NCIT:C2912 NCIT MONDO:0007244 Caffey disease oio:hasExactSynonym Caffey disease Caffey disease Caffey Disease NCIT:C118423 Infantile Cortical Hyperostosis confirmed Caffey disease NCIT:C118423 NCIT MONDO:0007244 Caffey disease oio:hasExactSynonym infantile cortical hyperostosis infantile cortical hyperostosis Infantile Cortical Hyperostosis NCIT:C118423 Infantile Cortical Hyperostosis confirmed infantile cortical hyperostosis NCIT:C118423 NCIT -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic Dysplasia NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed campomelic dysplasia NCIT:C84609 NCIT MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007254 breast cancer oio:hasExactSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma confirmed breast cancer NCIT:C4872 NCIT -MONDO:0007254 breast cancer oio:hasExactSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma confirmed cancer of breast NCIT:C4872 NCIT MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast neoplasm malignant breast neoplasm Malignant Breast Neoplasm NCIT:C9335 Malignant Breast Neoplasm confirmed malignant breast neoplasm NCIT:C9335 NCIT MONDO:0007254 breast cancer oio:hasExactSynonym malignant breast tumor malignant breast tumor Malignant Breast Tumor NCIT:C9335 Malignant Breast Neoplasm confirmed malignant breast tumor NCIT:C9335 NCIT MONDO:0007254 breast cancer oio:hasExactSynonym malignant neoplasm of breast malignant neoplasm of breast Malignant Neoplasm of Breast NCIT:C9335 Malignant Breast Neoplasm confirmed malignant neoplasm of breast NCIT:C9335 NCIT @@ -50916,14 +49880,11 @@ MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cance MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma hepatocellular carcinoma Hepatocellular Carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed hepatocellular carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatoma hepatoma Hepatoma NCIT:C3099 Hepatocellular Carcinoma confirmed hepatoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell cancer (hepatocellular carcinoma) liver cell cancer (hepatocellular carcinoma) Liver Cell Cancer (Hepatocellular Carcinoma) NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell cancer (hepatocellular carcinoma) NCIT:C3099 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver cell carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT +MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of liver cells primary carcinoma of liver cells Primary Carcinoma of Liver Cells NCIT:C3099 Hepatocellular Carcinoma confirmed primary carcinoma of liver cells NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of the liver cells primary carcinoma of the liver cells Primary Carcinoma of the Liver Cells NCIT:C3099 Hepatocellular Carcinoma confirmed primary carcinoma of the liver cells NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym HCC NCIT:C3099 Hepatocellular Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCC NCIT:C3099 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma confirmed liver carcinoma NCIT:C7927 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma confirmed hepatocellular cancer NCIT:C7955 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma confirmed hepatocellular cancer NCIT:C7956 NCIT MONDO:0007263 cardiac rhythm disease oio:hasExactSynonym arrhythmia arrhythmia Arrhythmia NCIT:C2881 Arrhythmia confirmed arrhythmia NCIT:C2881 NCIT MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym familial hypertrophic cardiomyopathy type 2 familial hypertrophic cardiomyopathy type 2 Familial Hypertrophic Cardiomyopathy Type 2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 confirmed familial hypertrophic cardiomyopathy type 2 NCIT:C142892 NCIT MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym CMH2 NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMH2 NCIT:C142892 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -51036,7 +49997,6 @@ MONDO:0007496 dystonia 12 oio:hasExactSynonym DYT12 NCIT:C157577 Dystonia 12 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type oio:hasExactSynonym Ehlers-Danlos syndrome, type III Ehlers-Danlos syndrome, type III Ehlers-Danlos Syndrome, Type III NCIT:C125698 Ehlers-Danlos Syndrome, Type III confirmed Ehlers-Danlos syndrome, type III NCIT:C125698 NCIT MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym Ehlers-Danlos syndrome, type VII Ehlers-Danlos syndrome, type VII Ehlers-Danlos Syndrome, Type VII NCIT:C125701 Ehlers-Danlos Syndrome, Type VII confirmed Ehlers-Danlos syndrome, type VII NCIT:C125701 NCIT MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome NCIT:C34415 Beckwith-Wiedemann Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Beckwith-Wiedemann syndrome NCIT:C34415 NCIT -MONDO:0007536 congenital lobar emphysema oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type 1 MEA type 1 MEA Type 1 NCIT:C3225 Multiple Endocrine Neoplasia Type 1 confirmed MEA type 1 NCIT:C3225 NCIT MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym MEA type I MEA type I MEA Type I NCIT:C3225 Multiple Endocrine Neoplasia Type 1 confirmed MEA type I NCIT:C3225 NCIT MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym Wermer syndrome Wermer syndrome Wermer Syndrome NCIT:C3225 Multiple Endocrine Neoplasia Type 1 confirmed Wermer syndrome NCIT:C3225 NCIT @@ -51077,8 +50037,6 @@ MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym Fe MONDO:0007566 multiple self-healing squamous epithelioma oio:hasExactSynonym multiple self healing epithelioma of Ferguson-Smith multiple self healing epithelioma of Ferguson-Smith Multiple Self Healing Epithelioma of Ferguson-Smith NCIT:C4461 Multiple Self Healing Epithelioma of Ferguson-Smith confirmed multiple self healing epithelioma of Ferguson-Smith NCIT:C4461 NCIT MONDO:0007571 primary erythermalgia oio:hasExactSynonym primary erythromelalgia primary erythromelalgia Primary Erythromelalgia NCIT:C125383 Primary Erythromelalgia confirmed primary erythromelalgia NCIT:C125383 NCIT MONDO:0007571 primary erythermalgia oio:hasExactSynonym PERYTHM NCIT:C125383 Primary Erythromelalgia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PERYTHM NCIT:C125383 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007576 esophageal cancer oio:hasExactSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma confirmed cancer of esophagus NCIT:C3513 NCIT -MONDO:0007576 esophageal cancer oio:hasExactSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma confirmed esophageal cancer NCIT:C3513 NCIT MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal neoplasm malignant esophageal neoplasm Malignant Esophageal Neoplasm NCIT:C7478 Malignant Esophageal Neoplasm confirmed malignant esophageal neoplasm NCIT:C7478 NCIT MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophageal tumor malignant esophageal tumor Malignant Esophageal Tumor NCIT:C7478 Malignant Esophageal Neoplasm confirmed malignant esophageal tumor NCIT:C7478 NCIT MONDO:0007576 esophageal cancer oio:hasExactSynonym malignant esophagus tumor malignant esophagus tumor Malignant Esophagus Tumor NCIT:C7478 Malignant Esophageal Neoplasm confirmed malignant esophagus tumor NCIT:C7478 NCIT @@ -51109,8 +50067,8 @@ MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone B-cell MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym Immunocytoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Immunocytoma NCIT:C3898 NCIT -MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT +MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALToma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALToma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym mucosa-associated lymphoid tissue lymphoma mucosa-associated lymphoid tissue lymphoma Mucosa-Associated Lymphoid Tissue Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed mucosa-associated lymphoid tissue lymphoma NCIT:C3898 NCIT MONDO:0007652 gastric mucosal hypertrophy oio:hasExactSynonym MENETRIER disease MENETRIER disease Menetrier Disease NCIT:C67277 Giant Hypertrophic Gastritis confirmed MENETRIER disease NCIT:C67277 NCIT @@ -51124,10 +50082,10 @@ MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym Gerst MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette syndrome Tourette syndrome Tourette Syndrome NCIT:C35078 Tourette Syndrome confirmed Tourette syndrome NCIT:C35078 NCIT MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette's syndrome Tourette's syndrome Tourette's Syndrome NCIT:C35078 Tourette Syndrome confirmed Tourette's syndrome NCIT:C35078 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym SUBEPENDYMOMA, benign SUBEPENDYMOMA, benign SUBEPENDYMOMA, BENIGN NCIT:C3795 Subependymoma confirmed SUBEPENDYMOMA, benign NCIT:C3795 NCIT -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma confirmed WHO grade I ependymal neoplasm NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm WHO Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma confirmed WHO grade I ependymal neoplasm NCIT:C3795 NCIT -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma confirmed WHO grade I ependymal neoplasm NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor Who Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal astrocytoma subependymal astrocytoma Subependymal Astrocytoma NCIT:C3795 Subependymoma confirmed subependymal astrocytoma NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal glioma NCIT:C3795 Subependymoma confirmed subependymal glioma NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal Glioma NCIT:C3795 Subependymoma confirmed subependymal glioma NCIT:C3795 NCIT @@ -51138,7 +50096,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym maturity on MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome renal cysts and diabetes syndrome Renal Cysts and Diabetes Syndrome NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed renal cysts and diabetes syndrome NCIT:C123018 NCIT MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym MODY5 NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MODY5 NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD NCIT:C123018 Renal Cysts and Diabetes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCAD NCIT:C123018 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym glomuvenous malformation glomuvenous malformation Glomuvenous Malformation NCIT:C4222 Glomangioma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed glomuvenous malformation NCIT:C4222 NCIT MONDO:0007672 glomuvenous malformation oio:hasExactSynonym familial glomangioma familial glomangioma Familial Glomangioma NCIT:C5350 Hereditary Glomangioma confirmed familial glomangioma NCIT:C5350 NCIT MONDO:0007672 glomuvenous malformation oio:hasExactSynonym hereditary glomangioma hereditary glomangioma Hereditary Glomangioma NCIT:C5350 Hereditary Glomangioma confirmed hereditary glomangioma NCIT:C5350 NCIT MONDO:0007686 gray platelet syndrome oio:hasExactSynonym gray platelet syndrome gray platelet syndrome Gray Platelet Syndrome NCIT:C84741 Gray Platelet Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed gray platelet syndrome NCIT:C84741 NCIT @@ -51206,12 +50163,12 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I hypersensit MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I immediate hypersensitivity reaction type I immediate hypersensitivity reaction Type I Immediate Hypersensitivity Reaction NCIT:C3116 Type I Hypersensitivity confirmed type I immediate hypersensitivity reaction NCIT:C3116 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym JOB syndrome JOB syndrome Job Syndrome NCIT:C126342 STAT3 Deficiency confirmed JOB syndrome NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym Job's syndrome NCIT:C126342 STAT3 Deficiency confirmed Job's syndrome NCIT:C126342 NCIT -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym autosomal dominant hyper-IgE syndrome autosomal dominant hyper-IgE syndrome Autosomal dominant hyper-IgE syndrome NCIT:C126342 STAT3 Deficiency confirmed autosomal dominant hyper-IgE syndrome NCIT:C126342 NCIT MONDO:0007827 inclusion body myositis oio:hasExactSynonym inclusion body myositis inclusion body myositis Inclusion Body Myositis NCIT:C84786 Inclusion Body Myositis confirmed inclusion body myositis NCIT:C84786 NCIT -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis confirmed islet cell adenomatosis NCIT:C4375 NCIT MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet cell adenomatosis NCIT:C4375 Nesidioblastosis confirmed islet cell adenomatosis NCIT:C4375 NCIT +MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet Cell Adenomatosis NCIT:C4375 Nesidioblastosis confirmed islet cell adenomatosis NCIT:C4375 NCIT MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym 11q terminal deletion disorder 11q terminal deletion disorder 11q Terminal Deletion Disorder NCIT:C75457 Jacobsen Syndrome confirmed 11q terminal deletion disorder NCIT:C75457 NCIT MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Jacobsen syndrome Jacobsen Syndrome NCIT:C75457 Jacobsen Syndrome confirmed Jacobsen syndrome NCIT:C75457 NCIT MONDO:0007863 Kleine-Levin syndrome oio:hasExactSynonym Kleine-Levin syndrome Kleine-Levin syndrome Kleine-Levin Syndrome NCIT:C84800 Kleine-Levin Syndrome confirmed Kleine-Levin syndrome NCIT:C84800 NCIT @@ -51255,25 +50212,21 @@ MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynony MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer Hereditary Leiomyomatosis and Renal Cell Cancer NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hereditary leiomyomatosis and renal cell cancer NCIT:C51302 NCIT MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym HLRCC NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HLRCC NCIT:C51302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym LEOPARD syndrome LEOPARD syndrome LEOPARD Syndrome NCIT:C84820 LEOPARD Syndrome confirmed LEOPARD syndrome NCIT:C84820 NCIT -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5B) NCIT:C4861 NCIT +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5B) NCIT:C4861 NCIT -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5b) NCIT:C4861 NCIT +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5B) NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5b) NCIT:C4861 NCIT +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5b) NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym leukemia, monocytic, malignant leukemia, monocytic, malignant LEUKEMIA, MONOCYTIC, MALIGNANT NCIT:C4861 Acute Monocytic Leukemia confirmed leukemia, monocytic, malignant NCIT:C4861 NCIT -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C8263 NCIT MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym lichen sclerosus et atrophicus lichen sclerosus et atrophicus Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus confirmed lichen sclerosus et atrophicus NCIT:C26817 NCIT -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym Madelung's Disease NCIT:C3193 Lipomatosis confirmed Madelung's Disease NCIT:C3193 NCIT MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym cervical symmetrical lipomatosis cervical symmetrical lipomatosis Cervical Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis confirmed cervical symmetrical lipomatosis NCIT:C4392 NCIT MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym multiple symmetrical lipomatosis multiple symmetrical lipomatosis Multiple Symmetrical Lipomatosis NCIT:C4392 Cervical Symmetrical Lipomatosis confirmed multiple symmetrical lipomatosis NCIT:C4392 NCIT -MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym Lupus NCIT:C27153 Lupus Erythematosus confirmed Lupus NCIT:C27153 NCIT MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE - lupus erythematosus, systemic SLE - lupus erythematosus, systemic SLE - Lupus Erythematosus, Systemic NCIT:C3201 Systemic Lupus Erythematosus confirmed SLE - lupus erythematosus, systemic NCIT:C3201 NCIT MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic Lupus Erythematosus NCIT:C3201 Systemic Lupus Erythematosus confirmed systemic lupus erythematosus NCIT:C3201 NCIT MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym SLE NCIT:C3201 Systemic Lupus Erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SLE NCIT:C3201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow Nail Syndrome NCIT:C85238 Yellow Nail Syndrome confirmed yellow nail syndrome NCIT:C85238 NCIT MONDO:0007922 lymphedema-distichiasis syndrome oio:hasExactSynonym lymphedema-distichiasis syndrome lymphedema-distichiasis syndrome Lymphedema-Distichiasis Syndrome NCIT:C128191 Lymphedema-Distichiasis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed lymphedema-distichiasis syndrome NCIT:C128191 NCIT -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome confirmed Ruvalcaba-MYHRE-SMITH syndrome NCIT:C3076 NCIT MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan syndrome Bannayan syndrome Bannayan Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome confirmed Bannayan syndrome NCIT:C3939 NCIT MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome confirmed Bannayan-Riley-Ruvalcaba syndrome NCIT:C3939 NCIT MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Zonana syndrome Bannayan-Zonana syndrome Bannayan-Zonana Syndrome NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome confirmed Bannayan-Zonana syndrome NCIT:C3939 NCIT @@ -51286,7 +50239,6 @@ MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasE MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym 46,XY sex reversal 4 46,XY sex reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 confirmed 46,XY sex reversal 4 NCIT:C132270 NCIT MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan's syndrome Marfan's syndrome Marfan's Syndrome NCIT:C34807 Marfan Syndrome confirmed Marfan's syndrome NCIT:C34807 NCIT MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome Marfan syndrome Marfan Syndrome NCIT:C34807 Marfan Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Marfan syndrome NCIT:C34807 NCIT -MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome confirmed Marshall syndrome NCIT:C116917 NCIT MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome confirmed Marshall syndrome NCIT:C128115 NCIT MONDO:0007950 mastocytosis oio:hasExactSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis confirmed Mast cell disease NCIT:C84269 NCIT MONDO:0007950 mastocytosis oio:hasExactSynonym mastocytosis mastocytosis Mastocytosis NCIT:C84269 Mastocytosis confirmed mastocytosis NCIT:C84269 NCIT @@ -51296,8 +50248,6 @@ MONDO:0007955 Meckel diverticulum oio:hasExactSynonym Meckel's diverticulum Mec MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma, malignant medulloblastoma, malignant MEDULLOBLASTOMA, MALIGNANT NCIT:C3222 Medulloblastoma confirmed medulloblastoma, malignant NCIT:C3222 NCIT MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastomas medulloblastomas Medulloblastomas NCIT:C3222 Medulloblastoma confirmed medulloblastomas NCIT:C3222 NCIT MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed medulloblastoma NCIT:C3222 NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed medulloblastoma NCIT:C3997 NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed medulloblastoma NCIT:C4011 NCIT MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym Atypical Mole syndrome Atypical Mole syndrome Atypical Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome confirmed Atypical Mole syndrome NCIT:C7584 NCIT MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome confirmed B-K Mole syndrome NCIT:C7584 NCIT MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym dysplastic nevus syndrome dysplastic nevus syndrome Dysplastic Nevus Syndrome NCIT:C7584 Dysplastic Nevus Syndrome confirmed dysplastic nevus syndrome NCIT:C7584 NCIT @@ -51324,10 +50274,9 @@ MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym muller MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy 1 Facioscapulohumeral Muscular Dystrophy 1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 confirmed facioscapulohumeral muscular dystrophy 1 NCIT:C172704 NCIT MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral Muscular Dystrophy 2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 confirmed facioscapulohumeral muscular dystrophy 2 NCIT:C172705 NCIT MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytopenia syndrome ataxia-pancytopenia syndrome Ataxia-Pancytopenia Syndrome NCIT:C176909 Ataxia-Pancytopenia Syndrome confirmed ataxia-pancytopenia syndrome NCIT:C176909 NCIT -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD NCIT:C63709 Temporomandibular Joint Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD NCIT:C63709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym Transient abnormal myelopoiesis associated with Down syndrome Transient abnormal myelopoiesis associated with Down syndrome Transient Abnormal Myelopoiesis Associated with Down Syndrome NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome confirmed Transient abnormal myelopoiesis associated with Down syndrome NCIT:C82339 NCIT -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome confirmed transient abnormal myelopoiesis NCIT:C82339 NCIT MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient abnormal myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome confirmed transient abnormal myelopoiesis NCIT:C82339 NCIT +MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis transient abnormal myelopoiesis Transient Abnormal Myelopoiesis NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome confirmed transient abnormal myelopoiesis NCIT:C82339 NCIT MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disorder transient myeloproliferative disorder Transient Myeloproliferative Disorder NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome confirmed transient myeloproliferative disorder NCIT:C82339 NCIT MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TAM NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TAM NCIT:C82339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym centronuclear myopathy 1 centronuclear myopathy 1 Centronuclear Myopathy 1 NCIT:C126689 Centronuclear Myopathy 1 confirmed centronuclear myopathy 1 NCIT:C126689 NCIT @@ -51337,7 +50286,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyos MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease Steinert Disease NCIT:C84679 Dystrophia Myotonica 1 confirmed Steinert disease NCIT:C84679 NCIT MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome Steinert myotonic dystrophy syndrome Steinert Myotonic Dystrophy Syndrome NCIT:C84679 Dystrophia Myotonica 1 confirmed Steinert myotonic dystrophy syndrome NCIT:C84679 NCIT MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome Steinert syndrome Steinert Syndrome NCIT:C84679 Dystrophia Myotonica 1 confirmed Steinert syndrome NCIT:C84679 NCIT -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy NCIT:C84914 Myotonic Dystrophy confirmed Myotonic Dystrophy NCIT:C84914 NCIT MONDO:0008061 nail-patella syndrome oio:hasExactSynonym hereditary Osteo-onychodysplasia hereditary Osteo-onychodysplasia Hereditary Osteo-Onychodysplasia NCIT:C75120 Nail-Patella Syndrome confirmed hereditary Osteo-onychodysplasia NCIT:C75120 NCIT MONDO:0008061 nail-patella syndrome oio:hasExactSynonym nail-patella syndrome nail-patella syndrome Nail-Patella Syndrome NCIT:C75120 Nail-Patella Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed nail-patella syndrome NCIT:C75120 NCIT MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym medullary cystic kidney disease type II medullary cystic kidney disease type II Medullary Cystic Kidney Disease Type II NCIT:C123172 Medullary Cystic Kidney Disease Type II confirmed medullary cystic kidney disease type II NCIT:C123172 NCIT @@ -51398,7 +50346,6 @@ MONDO:0008167 dermoid cyst of ovary oio:hasExactSynonym ovarian dermoid cyst ov MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of ovary fibroma of ovary Fibroma of Ovary NCIT:C3498 Ovarian Fibroma confirmed fibroma of ovary NCIT:C3498 NCIT MONDO:0008168 ovarian fibroma oio:hasExactSynonym fibroma of the ovary fibroma of the ovary Fibroma of the Ovary NCIT:C3498 Ovarian Fibroma confirmed fibroma of the ovary NCIT:C3498 NCIT MONDO:0008168 ovarian fibroma oio:hasExactSynonym ovarian fibroma ovarian fibroma Ovarian Fibroma NCIT:C3498 Ovarian Fibroma confirmed ovarian fibroma NCIT:C3498 NCIT -MONDO:0008170 ovarian cancer oio:hasExactSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma confirmed ovarian cancer NCIT:C4908 NCIT MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of ovary cancer of ovary Cancer of Ovary NCIT:C7431 Malignant Ovarian Neoplasm confirmed cancer of ovary NCIT:C7431 NCIT MONDO:0008170 ovarian cancer oio:hasExactSynonym cancer of the ovary cancer of the ovary Cancer of the Ovary NCIT:C7431 Malignant Ovarian Neoplasm confirmed cancer of the ovary NCIT:C7431 NCIT MONDO:0008170 ovarian cancer oio:hasExactSynonym malignant neoplasm of ovary malignant neoplasm of ovary Malignant Neoplasm of Ovary NCIT:C7431 Malignant Ovarian Neoplasm confirmed malignant neoplasm of ovary NCIT:C7431 NCIT @@ -51417,8 +50364,8 @@ MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's disease of MONDO:0008177 extramammary Paget disease oio:hasExactSynonym Paget's skin disease Paget's skin disease Paget's Skin Disease NCIT:C3302 Extramammary Paget Disease confirmed Paget's skin disease NCIT:C3302 NCIT MONDO:0008177 extramammary Paget disease oio:hasExactSynonym extramammary Paget disease extramammary Paget disease Extramammary Paget Disease NCIT:C3302 Extramammary Paget Disease confirmed extramammary Paget disease NCIT:C3302 NCIT MONDO:0008179 paroxysmal extreme pain disorder oio:hasExactSynonym paroxysmal extreme pain disorder paroxysmal extreme pain disorder Paroxysmal Extreme Pain Disorder NCIT:C125385 Paroxysmal Extreme Pain Disorder confirmed paroxysmal extreme pain disorder NCIT:C125385 NCIT -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis confirmed hereditary pancreatitis NCIT:C95436 NCIT MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary Pancreatitis NCIT:C95436 Hereditary Pancreatitis confirmed hereditary pancreatitis NCIT:C95436 NCIT +MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym hereditary pancreatitis hereditary pancreatitis Hereditary pancreatitis NCIT:C95436 Hereditary Pancreatitis confirmed hereditary pancreatitis NCIT:C95436 NCIT MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita paramyotonia congenita Paramyotonia Congenita NCIT:C122790 Paramyotonia Congenita confirmed paramyotonia congenita NCIT:C122790 NCIT MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym paramyotonia congenita of Von Eulenburg paramyotonia congenita of Von Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita confirmed paramyotonia congenita of Von Eulenburg NCIT:C122790 NCIT MONDO:0008214 Pelger-Huet anomaly oio:hasExactSynonym Pelger-Huet anomaly Pelger-Huet anomaly Pelger-Huet Anomaly NCIT:C85002 Pelger-Huet Anomaly confirmed Pelger-Huet anomaly NCIT:C85002 NCIT @@ -51443,16 +50390,16 @@ MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym MEA type MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men 2A men 2A MEN 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type 2a men type 2a MEN Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men type 2a NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type II men type II MEN Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men type II NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type II multiple endocrine adenomatosis type II Multiple Endocrine Adenomatosis Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis, type II multiple endocrine adenomatosis, type II Multiple Endocrine Adenomatosis, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis, type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type II multiple endocrine neoplasia type II Multiple Endocrine Neoplasia Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine neoplasia type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia, type II multiple endocrine neoplasia, type II Multiple Endocrine Neoplasia, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine neoplasia, type II NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT MONDO:0008243 Pick disease oio:hasExactSynonym Pick disease Pick disease Pick Disease NCIT:C85008 Pick's Disease confirmed Pick disease NCIT:C85008 NCIT MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism NCIT:C85009 Piebaldism confirmed piebaldism NCIT:C85009 NCIT MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly Poland anomaly Poland Anomaly NCIT:C85017 Poland Syndrome confirmed Poland anomaly NCIT:C85017 NCIT @@ -51464,10 +50411,9 @@ MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of stomach polyps of sto MONDO:0008277 stomach polyp oio:hasExactSynonym polyps of the stomach polyps of the stomach Polyps of the Stomach NCIT:C3954 Gastric Polyp confirmed polyps of the stomach NCIT:C3954 NCIT MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Jeghers-Peutz syndrome Jeghers-Peutz syndrome Jeghers-Peutz Syndrome NCIT:C3324 Peutz-Jeghers Syndrome confirmed Jeghers-Peutz syndrome NCIT:C3324 NCIT MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz's syndrome Peutz's syndrome Peutz's Syndrome NCIT:C3324 Peutz-Jeghers Syndrome confirmed Peutz's syndrome NCIT:C3324 NCIT -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Peutz-Jeghers syndrome NCIT:C3324 NCIT MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Peutz-Jeghers syndrome NCIT:C3324 NCIT +MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz-Jeghers Syndrome NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Peutz-Jeghers syndrome NCIT:C3324 NCIT MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym PJS NCIT:C3324 Peutz-Jeghers Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PJS NCIT:C3324 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008280 Peutz-Jeghers syndrome oio:hasExactSynonym gastric Peutz-Jeghers polyp gastric Peutz-Jeghers polyp Gastric Peutz-Jeghers Polyp NCIT:C36205 Peutz-Jeghers Polyp of the Stomach confirmed gastric Peutz-Jeghers polyp NCIT:C36205 NCIT MONDO:0008283 Cronkhite-Canada syndrome oio:hasExactSynonym gastric Cronkhite Canada polyposis gastric Cronkhite Canada polyposis Gastric Cronkhite Canada Polyposis NCIT:C7035 Gastric Cronkhite Canada Polyposis confirmed gastric Cronkhite Canada polyposis NCIT:C7035 NCIT MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig cephalosyndactyly syndrome Greig cephalosyndactyly syndrome Greig Cephalosyndactyly Syndrome NCIT:C35255 Greig Syndrome confirmed Greig cephalosyndactyly syndrome NCIT:C35255 NCIT MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym Greig's syndrome Greig's syndrome Greig's Syndrome NCIT:C35255 Greig Syndrome confirmed Greig's syndrome NCIT:C35255 NCIT @@ -51507,7 +50453,6 @@ MONDO:0008375 retinal detachment oio:hasExactSynonym retinal detachment retinal MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma, malignant retinoblastoma, malignant RETINOBLASTOMA, MALIGNANT NCIT:C7541 Retinoblastoma confirmed retinoblastoma, malignant NCIT:C7541 NCIT MONDO:0008380 retinoblastoma oio:hasExactSynonym retinoblastoma retinoblastoma Retinoblastoma NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed retinoblastoma NCIT:C7541 NCIT MONDO:0008380 retinoblastoma oio:hasExactSynonym RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2872 Refractory Anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RA NCIT:C2872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym rheumatoid arthritis rheumatoid arthritis Rheumatoid Arthritis NCIT:C2884 Rheumatoid Arthritis confirmed rheumatoid arthritis NCIT:C2884 NCIT MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym RA NCIT:C2884 Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RA NCIT:C2884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym Rieger syndrome type 1 Rieger syndrome type 1 Rieger Syndrome Type 1 NCIT:C75015 Rieger Syndrome Type 1 confirmed Rieger syndrome type 1 NCIT:C75015 NCIT @@ -51518,8 +50463,8 @@ MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver dwarfi MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome Russell-Silver Syndrome NCIT:C85068 Russell-Silver Syndrome confirmed Russell-Silver syndrome NCIT:C85068 NCIT MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism Silver-Russell Dwarfism NCIT:C85068 Russell-Silver Syndrome confirmed Silver-Russell dwarfism NCIT:C85068 NCIT MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome Silver-Russell syndrome Silver-Russell Syndrome NCIT:C85068 Russell-Silver Syndrome confirmed Silver-Russell syndrome NCIT:C85068 NCIT -MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic Adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT +MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym tumor, mixed, benign tumor, mixed, benign TUMOR, MIXED, BENIGN NCIT:C8602 Pleomorphic Adenoma confirmed tumor, mixed, benign NCIT:C8602 NCIT MONDO:0008410 Scheuermann disease oio:hasExactSynonym Calve's disease Calve's disease Calve's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine confirmed Calve's disease NCIT:C34999 NCIT MONDO:0008410 Scheuermann disease oio:hasExactSynonym Scheuermann's disease Scheuermann's disease Scheuermann's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine confirmed Scheuermann's disease NCIT:C34999 NCIT @@ -51548,7 +50493,6 @@ MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym chromosome 17p11.2 del MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Smith-Magenis syndrome Smith-Magenis Syndrome NCIT:C75469 Smith-Magenis Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Smith-Magenis syndrome NCIT:C75469 NCIT MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym spastic Paraplegia 3A spastic Paraplegia 3A Spastic Paraplegia 3A NCIT:C142893 Spastic Paraplegia 3A confirmed spastic Paraplegia 3A NCIT:C142893 NCIT MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym strumpell disease strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A confirmed strumpell disease NCIT:C142893 NCIT -MONDO:0008449 spina bifida oio:hasExactSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele confirmed spinal meningocele NCIT:C101209 NCIT MONDO:0008449 spina bifida oio:hasExactSynonym rachischisis rachischisis Rachischisis NCIT:C101214 Spina Bifida confirmed rachischisis NCIT:C101214 NCIT MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida Spina Bifida NCIT:C101214 Spina Bifida confirmed spina bifida NCIT:C101214 NCIT MONDO:0008449 spina bifida oio:hasExactSynonym spina bifida spina bifida SPINA BIFIDA NCIT:C101214 Spina Bifida confirmed spina bifida NCIT:C101214 NCIT @@ -51584,8 +50528,8 @@ MONDO:0008538 temporal arteritis oio:hasExactSynonym Giant Cell Arteritis NCI MONDO:0008538 temporal arteritis oio:hasExactSynonym giant cell arteritis giant cell arteritis Giant Cell Arteritis NCIT:C35065 Temporal Arteritis confirmed giant cell arteritis NCIT:C35065 NCIT MONDO:0008538 temporal arteritis oio:hasExactSynonym temporal arteritis temporal arteritis Temporal Arteritis NCIT:C35065 Temporal Arteritis confirmed temporal arteritis NCIT:C35065 NCIT MONDO:0008541 spermatic cord torsion oio:hasExactSynonym testicular torsion testicular torsion Testicular Torsion NCIT:C26885 Testicular Torsion confirmed testicular torsion NCIT:C26885 NCIT -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym thanatophoric dysplasia, type 1 thanatophoric dysplasia, type 1 Thanatophoric Dysplasia, Type 1 NCIT:C98583 Type 1 Thanatophoric Dysplasia confirmed thanatophoric dysplasia, type 1 NCIT:C98583 NCIT MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym type 1 thanatophoric dysplasia type 1 thanatophoric dysplasia Type 1 Thanatophoric Dysplasia NCIT:C98583 Type 1 Thanatophoric Dysplasia confirmed type 1 thanatophoric dysplasia NCIT:C98583 NCIT MONDO:0008547 thanatophoric dysplasia type 2 oio:hasExactSynonym thanatophoric dysplasia, type 2 thanatophoric dysplasia, type 2 Thanatophoric Dysplasia, Type 2 NCIT:C98584 Type 2 Thanatophoric Dysplasia confirmed thanatophoric dysplasia, type 2 NCIT:C98584 NCIT @@ -51626,7 +50570,6 @@ MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter neoplasm malig MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureter tumor malignant ureter tumor Malignant Ureter Tumor NCIT:C7543 Malignant Ureter Neoplasm confirmed malignant ureter tumor NCIT:C7543 NCIT MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral neoplasm malignant ureteral neoplasm Malignant Ureteral Neoplasm NCIT:C7543 Malignant Ureter Neoplasm confirmed malignant ureteral neoplasm NCIT:C7543 NCIT MONDO:0008627 ureter cancer oio:hasExactSynonym malignant ureteral tumor malignant ureteral tumor Malignant Ureteral Tumor NCIT:C7543 Malignant Ureter Neoplasm confirmed malignant ureteral tumor NCIT:C7543 NCIT -MONDO:0008627 ureter cancer oio:hasExactSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma confirmed ureter cancer NCIT:C8993 NCIT MONDO:0008628 ureterocele oio:hasExactSynonym ureterocele ureterocele Ureterocele NCIT:C123159 Ureterocele confirmed ureterocele NCIT:C123159 NCIT MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome confirmed Muckle-Wells syndrome NCIT:C119054 NCIT MONDO:0008638 varicose disease oio:hasExactSynonym varix varix Varix NCIT:C35114 Varicose Vein confirmed varix NCIT:C35114 NCIT @@ -51667,14 +50610,13 @@ MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym nephrotic syndrome type MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome Denys-Drash syndrome Denys-Drash Syndrome NCIT:C84668 Denys-Drash Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Denys-Drash syndrome NCIT:C84668 NCIT MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome 4p deletion syndrome 4p Deletion Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome confirmed 4p deletion syndrome NCIT:C35528 NCIT MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Wolf-Hirschhorn syndrome NCIT:C35528 NCIT -MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT +MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym WPW NCIT:C35132 Wolff-Parkinson-White Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WPW NCIT:C35132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia NCIT:C84525 Abetalipoproteinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed abetalipoproteinemia NCIT:C84525 NCIT MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym Langer-Saldino achondrogenesis Langer-Saldino achondrogenesis Langer-Saldino Achondrogenesis NCIT:C3816 Type II Achondrogenesis confirmed Langer-Saldino achondrogenesis NCIT:C3816 NCIT MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym type II achondrogenesis type II achondrogenesis Type II Achondrogenesis NCIT:C3816 Type II Achondrogenesis confirmed type II achondrogenesis NCIT:C3816 NCIT -MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal Syndrome NCIT:C84531 Acrocallosal Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed acrocallosal syndrome NCIT:C84531 NCIT MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym acrodermatitis enteropathica acrodermatitis enteropathica Acrodermatitis Enteropathica NCIT:C128802 Acrodermatitis Enteropathica http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed acrodermatitis enteropathica NCIT:C128802 NCIT MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym acyl-CoA dehydrogenase, medium-chain deficiency acyl-CoA dehydrogenase, medium-chain deficiency Acyl-CoA Dehydrogenase, Medium-Chain Deficiency NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency confirmed acyl-CoA dehydrogenase, medium-chain deficiency NCIT:C84538 NCIT @@ -51748,8 +50690,6 @@ MONDO:0008876 Bloom syndrome oio:hasExactSynonym Bloom syndrome Bloom syndrome MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's Disease NCIT:C35070 Buerger Disease confirmed Buerger's Disease NCIT:C35070 NCIT MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym Buerger's disease Buerger's disease Buerger's Disease NCIT:C35070 Buerger Disease confirmed Buerger's disease NCIT:C35070 NCIT MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym thromboangiitis obliterans thromboangiitis obliterans Thromboangiitis Obliterans NCIT:C35070 Buerger Disease confirmed thromboangiitis obliterans NCIT:C35070 NCIT -MONDO:0008903 lung cancer oio:hasExactSynonym cancer of lung cancer of lung Cancer of Lung NCIT:C4878 Lung Carcinoma confirmed cancer of lung NCIT:C4878 NCIT -MONDO:0008903 lung cancer oio:hasExactSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma confirmed lung cancer NCIT:C4878 NCIT MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung neoplasm malignant lung neoplasm Malignant Lung Neoplasm NCIT:C7377 Malignant Lung Neoplasm confirmed malignant lung neoplasm NCIT:C7377 NCIT MONDO:0008903 lung cancer oio:hasExactSynonym malignant lung tumor malignant lung tumor Malignant Lung Tumor NCIT:C7377 Malignant Lung Neoplasm confirmed malignant lung tumor NCIT:C7377 NCIT MONDO:0008903 lung cancer oio:hasExactSynonym malignant neoplasm of lung malignant neoplasm of lung Malignant Neoplasm of Lung NCIT:C7377 Malignant Lung Neoplasm confirmed malignant neoplasm of lung NCIT:C7377 NCIT @@ -51790,7 +50730,6 @@ MONDO:0008988 citrullinemia type I oio:hasExactSynonym CTLN1 NCIT:C150601 Cit MONDO:0009003 achromatopsia 2 oio:hasExactSynonym achromatopsia 2 achromatopsia 2 Achromatopsia 2 NCIT:C168757 Achromatopsia 2 confirmed achromatopsia 2 NCIT:C168757 NCIT MONDO:0009003 achromatopsia 2 oio:hasExactSynonym ACHM2 NCIT:C168757 Achromatopsia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACHM2 NCIT:C168757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009016 band keratopathy oio:hasExactSynonym band keratopathy band keratopathy Band Keratopathy NCIT:C118765 Band Keratopathy confirmed band keratopathy NCIT:C118765 NCIT -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD NCIT:C27855 Multicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD NCIT:C27855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular Corneal Dystrophy NCIT:C34793 Macular Corneal Dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed macular corneal dystrophy NCIT:C34793 NCIT MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym agenesis of corpus callosum agenesis of corpus callosum Agenesis of Corpus Callosum NCIT:C98905 Corpus Callosum Agenesis confirmed agenesis of corpus callosum NCIT:C98905 NCIT MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym corpus callosum agenesis corpus callosum agenesis Corpus Callosum Agenesis NCIT:C98905 Corpus Callosum Agenesis confirmed corpus callosum agenesis NCIT:C98905 NCIT @@ -51907,10 +50846,9 @@ MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann's synd MONDO:0009318 Hallermann-Streiff syndrome oio:hasExactSynonym Hallermann-Streiff syndrome Hallermann-Streiff syndrome Hallermann-Streiff Syndrome NCIT:C84746 Hallermann Syndrome confirmed Hallermann-Streiff syndrome NCIT:C84746 NCIT MONDO:0009319 pantothenate kinase-associated neurodegeneration oio:hasExactSynonym pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration Pantothenate Kinase-Associated Neurodegeneration NCIT:C84988 Pantothenate Kinase-Associated Neurodegeneration confirmed pantothenate kinase-associated neurodegeneration NCIT:C84988 NCIT MONDO:0009324 Hartnup disease oio:hasExactSynonym Hartnup disease Hartnup disease Hartnup Disease NCIT:C84748 Hartnup Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Hartnup disease NCIT:C84748 NCIT -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma confirmed hemangiopericytoma, malignant NCIT:C4301 NCIT MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant Hemangiopericytoma, malignant NCIT:C4301 Malignant Hemangiopericytoma confirmed hemangiopericytoma, malignant NCIT:C4301 NCIT +MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym hemangiopericytoma, malignant hemangiopericytoma, malignant HEMANGIOPERICYTOMA, MALIGNANT NCIT:C4301 Malignant Hemangiopericytoma confirmed hemangiopericytoma, malignant NCIT:C4301 NCIT MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma confirmed malignant hemangiopericytoma NCIT:C4301 NCIT -MONDO:0009330 hemangiopericytoma, malignant oio:hasExactSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma confirmed malignant hemangiopericytoma NCIT:C8090 NCIT MONDO:0009332 congenital hematological disorder oio:hasExactSynonym congenital hematological disorder congenital hematological disorder Congenital Hematological Disorder NCIT:C104003 Congenital Hematological Disorder confirmed congenital hematological disorder NCIT:C104003 NCIT MONDO:0009341 Mowat-Wilson syndrome oio:hasExactSynonym Mowat-Wilson syndrome Mowat-Wilson syndrome Mowat-Wilson Syndrome NCIT:C74999 Mowat-Wilson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Mowat-Wilson syndrome NCIT:C74999 NCIT MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym classical Hodgkin lymphoma classical Hodgkin lymphoma Classical Hodgkin Lymphoma NCIT:C7164 Classic Hodgkin Lymphoma confirmed classical Hodgkin lymphoma NCIT:C7164 NCIT @@ -51940,7 +50878,6 @@ MONDO:0009412 scurvy oio:hasExactSynonym vitamin C deficiency vitamin C deficie MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym Sanjad-Sakati syndrome Sanjad-Sakati syndrome Sanjad-Sakati Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome confirmed Sanjad-Sakati syndrome NCIT:C133727 NCIT MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym hypoparathyroidism-retardation-dysmorphism syndrome hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome confirmed hypoparathyroidism-retardation-dysmorphism syndrome NCIT:C133727 NCIT MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym HRDS NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HRDS NCIT:C133727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome oio:hasExactSynonym SSS NCIT:C62244 Sick Sinus Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SSS NCIT:C62244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypercalciuric hypophosphatemic rickets hypercalciuric hypophosphatemic rickets Hypercalciuric Hypophosphatemic Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria confirmed hypercalciuric hypophosphatemic rickets NCIT:C131450 NCIT MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym hypophosphatemic hypercalciuric rickets hypophosphatemic hypercalciuric rickets Hypophosphatemic Hypercalciuric Rickets NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria confirmed hypophosphatemic hypercalciuric rickets NCIT:C131450 NCIT MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria oio:hasExactSynonym HHRH NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHRH NCIT:C131450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -51971,15 +50908,14 @@ MONDO:0009499 Krabbe disease oio:hasExactSynonym globoid cell leukodystrophy gl MONDO:0009499 Krabbe disease oio:hasExactSynonym Krabbe disease Krabbe disease Krabbe Disease NCIT:C61254 Krabbe Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Krabbe disease NCIT:C61254 NCIT MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym Landau-Kleffner syndrome Landau-Kleffner syndrome Landau-Kleffner Syndrome NCIT:C84806 Landau-Kleffner Syndrome confirmed Landau-Kleffner syndrome NCIT:C84806 NCIT MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym acquired epileptic aphasia acquired epileptic aphasia Acquired Epileptic Aphasia NCIT:C84806 Landau-Kleffner Syndrome confirmed acquired epileptic aphasia NCIT:C84806 NCIT -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome confirmed Laurence-Moon syndrome NCIT:C118632 NCIT MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome confirmed Laurence-Moon syndrome NCIT:C34760 NCIT MONDO:0009515 Norum disease oio:hasExactSynonym lecithin acyltransferase deficiency lecithin acyltransferase deficiency Lecithin Acyltransferase Deficiency NCIT:C84813 Lecithin Acyltransferase Deficiency confirmed lecithin acyltransferase deficiency NCIT:C84813 NCIT MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome Donohue Syndrome NCIT:C84676 Donohue Syndrome confirmed Donohue syndrome NCIT:C84676 NCIT MONDO:0009517 Donohue syndrome oio:hasExactSynonym Leprechaunism NCIT:C84676 Donohue Syndrome confirmed Leprechaunism NCIT:C84676 NCIT MONDO:0009517 Donohue syndrome oio:hasExactSynonym leprechaunism leprechaunism Leprechaunism NCIT:C84676 Donohue Syndrome confirmed leprechaunism NCIT:C84676 NCIT MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym acute disseminated Langerhans cell histiocytosis acute disseminated Langerhans cell histiocytosis Acute Disseminated Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease confirmed acute disseminated Langerhans cell histiocytosis NCIT:C3160 NCIT -MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease confirmed letterer-Siwe disease NCIT:C3160 NCIT MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe disease NCIT:C3160 Letterer-Siwe Disease confirmed letterer-Siwe disease NCIT:C3160 NCIT +MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym letterer-Siwe disease letterer-Siwe disease Letterer-Siwe Disease NCIT:C3160 Letterer-Siwe Disease confirmed letterer-Siwe disease NCIT:C3160 NCIT MONDO:0009519 letterer-Siwe disease oio:hasExactSynonym multifocal multisystem Langerhans cell histiocytosis multifocal multisystem Langerhans cell histiocytosis Multifocal Multisystem Langerhans Cell Histiocytosis NCIT:C3160 Letterer-Siwe Disease confirmed multifocal multisystem Langerhans cell histiocytosis NCIT:C3160 NCIT MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl glutaric aciduria 3-OH 3-Methyl Glutaric Aciduria NCIT:C84523 HMG-CoA Lyase Deficiency confirmed 3-OH 3-Methyl glutaric aciduria NCIT:C84523 NCIT MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency confirmed 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NCIT:C84523 NCIT @@ -52013,7 +50949,6 @@ MONDO:0009613 methylmalonic aciduria, cblA type oio:hasExactSynonym methylmalon MONDO:0009614 methylmalonic aciduria, cblB type oio:hasExactSynonym methylmalonic aciduria, cblB type methylmalonic aciduria, cblB type Methylmalonic Aciduria, cblB Type NCIT:C142172 Methylmalonic Aciduria, cblB Type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed methylmalonic aciduria, cblB type NCIT:C142172 NCIT MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome Nijmegen Breakage Syndrome NCIT:C4692 Nijmegen Breakage Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Nijmegen breakage syndrome NCIT:C4692 NCIT MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 confirmed microcephaly and chorioretinopathy, autosomal recessive, type 1 NCIT:C129306 NCIT -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis Syndrome NCIT:C165501 Aicardi-Goutieres Syndrome 1 confirmed Pseudotoxoplasmosis syndrome NCIT:C165501 NCIT MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome Galloway-Mowat syndrome Galloway-Mowat Syndrome NCIT:C132195 Galloway-Mowat Syndrome confirmed Galloway-Mowat syndrome NCIT:C132195 NCIT MONDO:0009637 inborn mitochondrial myopathy oio:hasExactSynonym mitochondrial myopathy mitochondrial myopathy Mitochondrial Myopathy NCIT:C101328 Mitochondrial Myopathy confirmed mitochondrial myopathy NCIT:C101328 NCIT MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 oio:hasExactSynonym monosomy 7 of bone marrow monosomy 7 of bone marrow Monosomy 7 of Bone Marrow NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 confirmed monosomy 7 of bone marrow NCIT:C176908 NCIT @@ -52067,7 +51002,6 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009688 myasthenia gravis oio:hasExactSynonym myasthenia gravis myasthenia gravis Myasthenia Gravis NCIT:C60989 Myasthenia Gravis confirmed myasthenia gravis NCIT:C60989 NCIT MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym presynaptic congenital myasthenic syndrome 6 presynaptic congenital myasthenic syndrome 6 Presynaptic Congenital Myasthenic Syndrome 6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 confirmed presynaptic congenital myasthenic syndrome 6 NCIT:C132292 NCIT MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym CMS6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS6 NCIT:C132292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis fungoides NCIT:C3246 Mycosis Fungoides confirmed mycosis fungoides NCIT:C3246 NCIT MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis Fungoides NCIT:C3246 Mycosis Fungoides confirmed mycosis fungoides NCIT:C3246 NCIT MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -52075,15 +51009,15 @@ MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metap MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metaplasia NCIT:C2862 Primary Myelofibrosis confirmed Agnogenic myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic bone marrow fibrosis idiopathic bone marrow fibrosis Idiopathic Bone Marrow Fibrosis NCIT:C2862 Primary Myelofibrosis confirmed idiopathic bone marrow fibrosis NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic myelofibrosis idiopathic myelofibrosis Idiopathic Myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed idiopathic myelofibrosis NCIT:C2862 NCIT -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with myeloid metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT +MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary Myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed primary myelofibrosis NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed primary myelofibrosis NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym AMM NCIT:C2862 Primary Myelofibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMM NCIT:C2862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma confirmed Multiple Myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma NCIT:C3242 Multiple Myeloma confirmed Multiple Myeloma NCIT:C3242 NCIT -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma confirmed multiple myeloma NCIT:C3242 NCIT +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma confirmed Multiple Myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple Myeloma NCIT:C3242 Multiple Myeloma confirmed multiple myeloma NCIT:C3242 NCIT +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma multiple myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma confirmed multiple myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma/plasma cell myeloma multiple myeloma/plasma cell myeloma Multiple Myeloma/Plasma Cell Myeloma NCIT:C3242 Multiple Myeloma confirmed multiple myeloma/plasma cell myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma myeloma Myeloma NCIT:C3242 Multiple Myeloma confirmed myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma, plasma cell, malignant myeloma, plasma cell, malignant MYELOMA, PLASMA CELL, MALIGNANT NCIT:C3242 Multiple Myeloma confirmed myeloma, plasma cell, malignant NCIT:C3242 NCIT @@ -52111,7 +51045,6 @@ MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NCIT:C74998 Nephron MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym congenital nephrotic syndrome - Finnish type congenital nephrotic syndrome - Finnish type Congenital Nephrotic Syndrome - Finnish Type NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated confirmed congenital nephrotic syndrome - Finnish type NCIT:C122795 NCIT MONDO:0009732 congenital nephrotic syndrome, Finnish type oio:hasExactSynonym nephrotic syndrome - NPHS1 associated nephrotic syndrome - NPHS1 associated Nephrotic Syndrome - NPHS1 Associated NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated confirmed nephrotic syndrome - NPHS1 associated NCIT:C122795 NCIT MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym congenital nephrotic syndrome - diffuse mesangial sclerosis congenital nephrotic syndrome - diffuse mesangial sclerosis Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis confirmed congenital nephrotic syndrome - diffuse mesangial sclerosis NCIT:C121198 NCIT -MONDO:0009735 Netherton syndrome oio:hasExactSynonym NS NCIT:C135176 Nuclear Cataract http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NS NCIT:C135176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009735 Netherton syndrome oio:hasExactSynonym Netherton syndrome Netherton syndrome Netherton Syndrome NCIT:C84922 Netherton Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Netherton syndrome NCIT:C84922 NCIT MONDO:0009737 galactosialidosis oio:hasExactSynonym Goldberg syndrome Goldberg syndrome Goldberg Syndrome NCIT:C129928 Galactosialidosis confirmed Goldberg syndrome NCIT:C129928 NCIT MONDO:0009737 galactosialidosis oio:hasExactSynonym galactosialidosis galactosialidosis Galactosialidosis NCIT:C129928 Galactosialidosis confirmed galactosialidosis NCIT:C129928 NCIT @@ -52143,7 +51076,6 @@ MONDO:0009761 cystic hygroma oio:hasExactSynonym hygroma hygroma Hygroma NCIT:C MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym gyrate atrophy gyrate atrophy Gyrate Atrophy NCIT:C84744 Gyrate Atrophy confirmed gyrate atrophy NCIT:C84744 NCIT MONDO:0009797 orotic aciduria oio:hasExactSynonym Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria confirmed Hereditary Orotic Aciduria NCIT:C98944 NCIT MONDO:0009804 osteogenesis imperfecta type 3 oio:hasExactSynonym osteogenesis imperfecta type III osteogenesis imperfecta type III Osteogenesis Imperfecta Type III NCIT:C99002 Osteogenesis Imperfecta Type III confirmed osteogenesis imperfecta type III NCIT:C99002 NCIT -MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma confirmed osteosarcoma NCIT:C6585 NCIT MONDO:0009807 osteosarcoma oio:hasExactSynonym osteogenic sarcoma osteogenic sarcoma Osteogenic Sarcoma NCIT:C9145 Osteosarcoma confirmed osteogenic sarcoma NCIT:C9145 NCIT MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma confirmed osteosarcoma NCIT:C9145 NCIT MONDO:0009807 osteosarcoma oio:hasExactSynonym osteosarcoma, malignant osteosarcoma, malignant OSTEOSARCOMA, MALIGNANT NCIT:C9145 Osteosarcoma confirmed osteosarcoma, malignant NCIT:C9145 NCIT @@ -52167,9 +51099,6 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym osteopetr MONDO:0009818 autosomal recessive osteopetrosis 3 oio:hasExactSynonym OPTB3 NCIT:C118438 Osteopetrosis with Renal Tubular Acidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OPTB3 NCIT:C118438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym primary hyperoxaluria type I primary hyperoxaluria type I Primary Hyperoxaluria Type I NCIT:C123212 Primary Hyperoxaluria Type I confirmed primary hyperoxaluria type I NCIT:C123212 NCIT MONDO:0009824 primary hyperoxaluria type 2 oio:hasExactSynonym primary hyperoxaluria type II primary hyperoxaluria type II Primary Hyperoxaluria Type II NCIT:C123213 Primary Hyperoxaluria Type II confirmed primary hyperoxaluria type II NCIT:C123213 NCIT -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym cancer of pancreas cancer of pancreas Cancer of Pancreas NCIT:C3850 Pancreatic Carcinoma confirmed cancer of pancreas NCIT:C3850 NCIT -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreas cancer pancreas cancer Pancreas Cancer NCIT:C3850 Pancreatic Carcinoma confirmed pancreas cancer NCIT:C3850 NCIT -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym pancreatic cancer pancreatic cancer Pancreatic Cancer NCIT:C3850 Pancreatic Carcinoma confirmed pancreatic cancer NCIT:C3850 NCIT MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of pancreas malignant neoplasm of pancreas Malignant Neoplasm of Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm confirmed malignant neoplasm of pancreas NCIT:C9005 NCIT MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant neoplasm of the pancreas malignant neoplasm of the pancreas Malignant Neoplasm of the Pancreas NCIT:C9005 Malignant Pancreatic Neoplasm confirmed malignant neoplasm of the pancreas NCIT:C9005 NCIT MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym malignant pancreatic neoplasm malignant pancreatic neoplasm Malignant Pancreatic Neoplasm NCIT:C9005 Malignant Pancreatic Neoplasm confirmed malignant pancreatic neoplasm NCIT:C9005 NCIT @@ -52236,8 +51165,8 @@ MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym 1 Alpha-h MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym pseudo vitamin-D deficient rickets pseudo vitamin-D deficient rickets Pseudo Vitamin-D Deficient Rickets NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed pseudo vitamin-D deficient rickets NCIT:C131073 NCIT MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym selective 1-alpha, 25-hydroxyvitamin D3 deficiency selective 1-alpha, 25-hydroxyvitamin D3 deficiency Selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed selective 1-alpha, 25-hydroxyvitamin D3 deficiency NCIT:C131073 NCIT MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D 1 Alpha-Hydroxylase deficiency vitamin D 1 Alpha-Hydroxylase deficiency Vitamin D 1 Alpha-Hydroxylase Deficiency NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed vitamin D 1 Alpha-Hydroxylase deficiency NCIT:C131073 NCIT -MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed vitamin D-dependent rickets type 1 NCIT:C131073 NCIT MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-Dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed vitamin D-dependent rickets type 1 NCIT:C131073 NCIT +MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym vitamin D-dependent rickets type 1 vitamin D-dependent rickets type 1 Vitamin D-dependent Rickets Type 1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency confirmed vitamin D-dependent rickets type 1 NCIT:C131073 NCIT MONDO:0009924 vitamin D-dependent rickets, type 1 oio:hasExactSynonym VDDR1 NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VDDR1 NCIT:C131073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum confirmed Pseudoxanthoma Elasticum NCIT:C85036 NCIT MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym Escobar syndrome Escobar syndrome Escobar Syndrome NCIT:C101039 Escobar Syndrome confirmed Escobar syndrome NCIT:C101039 NCIT @@ -52246,7 +51175,6 @@ MONDO:0009933 congenital pulmonary lymphangiectasia oio:hasExactSynonym congeni MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia alveolar capillary dysplasia Alveolar Capillary Dysplasia NCIT:C98809 Alveolar Capillary Dysplasia confirmed alveolar capillary dysplasia NCIT:C98809 NCIT MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary veno-occlusive disease pulmonary veno-occlusive disease Pulmonary Veno-Occlusive Disease NCIT:C85039 Pulmonary Veno-Occlusive Disease confirmed pulmonary veno-occlusive disease NCIT:C85039 NCIT MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis NCIT:C131187 Pycnodysostosis confirmed pycnodysostosis NCIT:C131187 NCIT -MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym Hypophosphatasia NCIT:C26798 Hypophosphatasia confirmed Hypophosphatasia NCIT:C26798 NCIT MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym pyruvate carboxylase deficiency disease pyruvate carboxylase deficiency disease Pyruvate Carboxylase Deficiency Disease NCIT:C85040 Pyruvate Carboxylase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pyruvate carboxylase deficiency disease NCIT:C85040 NCIT MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency confirmed Pyruvate Kinase Deficiency NCIT:C99037 NCIT MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym hemolytic Anemia due to pyruvate Kinase deficiency hemolytic Anemia due to pyruvate Kinase deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency confirmed hemolytic Anemia due to pyruvate Kinase deficiency NCIT:C99037 NCIT @@ -52263,8 +51191,8 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bo MONDO:0009990 Revesz syndrome oio:hasExactSynonym DKCA5 NCIT:C152064 Revesz Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DKCA5 NCIT:C152064 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma NCIT:C8971 Embryonal Rhabdomyosarcoma confirmed embryonal rhabdomyosarcoma NCIT:C8971 NCIT MONDO:0009993 embryonal rhabdomyosarcoma oio:hasExactSynonym ERMS NCIT:C8971 Embryonal Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ERMS NCIT:C8971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma confirmed alveolar rhabdomyosarcoma NCIT:C3749 NCIT MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma confirmed alveolar rhabdomyosarcoma NCIT:C3749 NCIT +MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma confirmed alveolar rhabdomyosarcoma NCIT:C3749 NCIT MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym monomorphous round cell rhabdomyosarcoma monomorphous round cell rhabdomyosarcoma Monomorphous Round Cell Rhabdomyosarcoma NCIT:C3749 Alveolar Rhabdomyosarcoma confirmed monomorphous round cell rhabdomyosarcoma NCIT:C3749 NCIT MONDO:0009994 alveolar rhabdomyosarcoma oio:hasExactSynonym ARMS arms ARMS NCIT:C3749 Alveolar Rhabdomyosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARMS NCIT:C3749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome Rothmund-Thomson Syndrome NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rothmund-Thomson syndrome NCIT:C3335 NCIT @@ -52292,7 +51220,6 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym Canavan disease Canavan disea MONDO:0010088 mucosulfatidosis oio:hasExactSynonym multiple sulfatase deficiency disease multiple sulfatase deficiency disease Multiple Sulfatase Deficiency Disease NCIT:C84908 Multiple Sulfatase Deficiency Disease confirmed multiple sulfatase deficiency disease NCIT:C84908 NCIT MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay Sachs Disease NCIT:C85184 Tay-Sachs Disease confirmed Tay Sachs Disease NCIT:C85184 NCIT MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym Tay-Sachs disease Tay-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Tay-Sachs disease NCIT:C85184 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor confirmed testicular germ cell tumor NCIT:C6552 NCIT MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of testis germ cell neoplasm of testis Germ Cell Neoplasm of Testis NCIT:C8591 Testicular Germ Cell Tumor confirmed germ cell neoplasm of testis NCIT:C8591 NCIT MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell neoplasm of the testis germ cell neoplasm of the testis Germ Cell Neoplasm of the Testis NCIT:C8591 Testicular Germ Cell Tumor confirmed germ cell neoplasm of the testis NCIT:C8591 NCIT MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ Cell Tumor of Testis NCIT:C8591 Testicular Germ Cell Tumor confirmed germ cell tumor of testis NCIT:C8591 NCIT @@ -52362,7 +51289,6 @@ MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym XP-G NCIT:C39 MONDO:0010217 de Sanctis-Cacchione syndrome oio:hasExactSynonym de Sanctis-Cacchione syndrome de Sanctis-Cacchione syndrome De Sanctis-Cacchione Syndrome NCIT:C84666 De Sanctis-Cacchione Syndrome confirmed de Sanctis-Cacchione syndrome NCIT:C84666 NCIT MONDO:0010229 alopecia, congenital oio:hasExactSynonym congenital alopecia congenital alopecia Congenital Alopecia NCIT:C35790 Congenital Alopecia confirmed congenital alopecia NCIT:C35790 NCIT MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked adrenal hypoplasia congenita NCIT:C123725 NCIT -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym congenital adrenal hypoplasia congenital adrenal hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia confirmed congenital adrenal hypoplasia NCIT:C35261 NCIT MONDO:0010281 Danon disease oio:hasExactSynonym glycogen storage disease type IIb glycogen storage disease type IIb Glycogen Storage Disease Type IIb NCIT:C84735 Glycogen Storage Disease Type IIb confirmed glycogen storage disease type IIb NCIT:C84735 NCIT MONDO:0010281 Danon disease oio:hasExactSynonym Danon disease Danon disease Danon Disease NCIT:C84735 Glycogen Storage Disease Type IIb http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Danon disease NCIT:C84735 NCIT MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym MECP2 duplication syndrome MECP2 duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome confirmed MECP2 duplication syndrome NCIT:C126747 NCIT @@ -52388,8 +51314,8 @@ MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's Sex-l MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym Bruton's X-linked agammaglobulinemia Bruton's X-linked agammaglobulinemia Bruton's X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia confirmed Bruton's X-linked agammaglobulinemia NCIT:C3822 NCIT MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym X-linked agammaglobulinemia X-linked agammaglobulinemia X-Linked Agammaglobulinemia NCIT:C3822 X-Linked Agammaglobulinemia confirmed X-linked agammaglobulinemia NCIT:C3822 NCIT MONDO:0010434 synovial sarcoma oio:hasExactSynonym sarcoma, synovial, malignant sarcoma, synovial, malignant SARCOMA, SYNOVIAL, MALIGNANT NCIT:C3400 Synovial Sarcoma confirmed sarcoma, synovial, malignant NCIT:C3400 NCIT -MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma confirmed synovial sarcoma NCIT:C3400 NCIT MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial Sarcoma NCIT:C3400 Synovial Sarcoma confirmed synovial sarcoma NCIT:C3400 NCIT +MONDO:0010434 synovial sarcoma oio:hasExactSynonym synovial sarcoma synovial sarcoma Synovial sarcoma NCIT:C3400 Synovial Sarcoma confirmed synovial sarcoma NCIT:C3400 NCIT MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia NCIT:C126336 NCIT MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XMEN NCIT:C126336 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome Ogden Syndrome NCIT:C188215 Ogden Syndrome confirmed Ogden syndrome NCIT:C188215 NCIT @@ -52419,7 +51345,6 @@ MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia choroideremia Cho MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome Gareis-Mason Syndrome NCIT:C129930 MASA Syndrome confirmed Gareis-Mason syndrome NCIT:C129930 NCIT MONDO:0010559 MASA syndrome oio:hasExactSynonym MASA syndrome MASA syndrome MASA Syndrome NCIT:C129930 MASA Syndrome confirmed MASA syndrome NCIT:C129930 NCIT MONDO:0010559 MASA syndrome oio:hasExactSynonym spastic paraplegia, X-linked spastic paraplegia, X-linked Spastic Paraplegia, X-linked NCIT:C129930 MASA Syndrome confirmed spastic paraplegia, X-linked NCIT:C129930 NCIT -MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym CLS NCIT:C62578 Capillary Leak Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLS NCIT:C62578 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry Syndrome NCIT:C84643 Coffin-Lowry Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Coffin-Lowry syndrome NCIT:C84643 NCIT MONDO:0010562 colonic atresia oio:hasExactSynonym atresia of colon atresia of colon Atresia of Colon NCIT:C101024 Colon Atresia confirmed atresia of colon NCIT:C101024 NCIT MONDO:0010562 colonic atresia oio:hasExactSynonym colon atresia colon atresia Colon Atresia NCIT:C101024 Colon Atresia confirmed colon atresia NCIT:C101024 NCIT @@ -52447,10 +51372,9 @@ MONDO:0010604 hemophilia B oio:hasExactSynonym hereditary Factor IX deficiency MONDO:0010604 hemophilia B oio:hasExactSynonym hemophilia B hemophilia B Hemophilia B NCIT:C26721 Hemophilia B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hemophilia B NCIT:C26721 NCIT MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-Linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism confirmed X-linked hypoparathyroidism NCIT:C131079 NCIT MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism confirmed X-linked hypoparathyroidism NCIT:C131079 NCIT -MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked dominant hypophosphatemic rickets NCIT:C85234 NCIT MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-Linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked dominant hypophosphatemic rickets NCIT:C85234 NCIT +MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked dominant hypophosphatemic rickets NCIT:C85234 NCIT MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked ichthyosis X-linked ichthyosis X-Linked Ichthyosis NCIT:C84779 X-Linked Ichthyosis confirmed X-linked ichthyosis NCIT:C84779 NCIT -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome confirmed hyperimmunoglobulin M syndrome NCIT:C3990 NCIT MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym Duncan disease Duncan disease Duncan Disease NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed Duncan disease NCIT:C61246 NCIT MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed X-linked lymphoproliferative syndrome NCIT:C61246 NCIT MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-Linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed X-linked lymphoproliferative syndrome NCIT:C61246 NCIT @@ -52482,7 +51406,6 @@ MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym Peliza MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS pais PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS NCIT:C120192 Partial Androgen Insensitivity Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PAIS NCIT:C120192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym juvenile X-linked retinoschisis juvenile X-linked retinoschisis Juvenile X-Linked Retinoschisis NCIT:C75483 Juvenile X-Linked Retinoschisis confirmed juvenile X-linked retinoschisis NCIT:C75483 NCIT -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS NCIT:C3335 Rothmund-Thomson Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RTS NCIT:C3335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Rett syndrome Rett Syndrome NCIT:C75488 Rett Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rett syndrome NCIT:C75488 NCIT MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel Syndrome NCIT:C131002 Simpson-Golabi-Behmel Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Simpson-Golabi-Behmel syndrome NCIT:C131002 NCIT MONDO:0010735 Kennedy disease oio:hasExactSynonym Kennedy disease Kennedy disease Kennedy Disease NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 confirmed Kennedy disease NCIT:C85233 NCIT @@ -52575,7 +51498,6 @@ MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin MONDO:0010931 vitamin D-dependent rickets, type 2B oio:hasExactSynonym vitamin D resistant rickets vitamin D resistant rickets Vitamin D Resistant Rickets NCIT:C131076 Vitamin D Dependent Rickets 2b confirmed vitamin D resistant rickets NCIT:C131076 NCIT MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 confirmed TIMOTHY syndrome NCIT:C142894 NCIT MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Timothy syndrome Timothy Syndrome NCIT:C142894 Long QT Syndrome 8 confirmed Timothy syndrome NCIT:C142894 NCIT -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS NCIT:C50783 Tricuspid Valve Stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TS NCIT:C50783 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDGId NCIT:C126870 Congenital Disorder of Glycosylation Type Id confirmed CDGId NCIT:C126870 NCIT MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Id congenital disorder of glycosylation type Id Congenital Disorder of Glycosylation Type Id NCIT:C126870 Congenital Disorder of Glycosylation Type Id confirmed congenital disorder of glycosylation type Id NCIT:C126870 NCIT MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym pulmonary blastoma of childhood pulmonary blastoma of childhood Pulmonary Blastoma of Childhood NCIT:C5669 Pleuropulmonary Blastoma confirmed pulmonary blastoma of childhood NCIT:C5669 NCIT @@ -52591,8 +51513,8 @@ MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym MPS9 NCIT:C129 MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 1B Peroxisome Biogenesis Disorder 1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisome biogenesis disorder 1B NCIT:C155749 NCIT MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth Disease Type 4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease type 4C NCIT:C129864 NCIT MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym CMT4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT4C NCIT:C129864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute bilineal leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT +MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT MONDO:0011122 obesity disorder oio:hasExactSynonym obesity obesity Obesity NCIT:C3283 Obesity confirmed obesity NCIT:C3283 NCIT MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym trichothiodystrophy 1, photosensitive trichothiodystrophy 1, photosensitive Trichothiodystrophy 1, Photosensitive NCIT:C156433 Trichothiodystrophy 1, Photosensitive confirmed trichothiodystrophy 1, photosensitive NCIT:C156433 NCIT MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Pallister-Killian syndrome Pallister-Killian Syndrome NCIT:C75458 Pallister-Killian Syndrome confirmed Pallister-Killian syndrome NCIT:C75458 NCIT @@ -52630,7 +51552,6 @@ MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of ov MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of the ovary germ cell tumor of the ovary Germ Cell Tumor of the Ovary NCIT:C3873 Ovarian Germ Cell Tumor confirmed germ cell tumor of the ovary NCIT:C3873 NCIT MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell neoplasm ovarian germ cell neoplasm Ovarian Germ Cell Neoplasm NCIT:C3873 Ovarian Germ Cell Tumor confirmed ovarian germ cell neoplasm NCIT:C3873 NCIT MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor confirmed ovarian germ cell tumor NCIT:C3873 NCIT -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor confirmed ovarian germ cell tumor NCIT:C8588 NCIT MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid papillary Microcarcinoma of the thyroid Papillary Microcarcinoma of the Thyroid NCIT:C46004 Thyroid Gland Papillary Microcarcinoma confirmed papillary Microcarcinoma of the thyroid NCIT:C46004 NCIT MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary Microcarcinoma of the thyroid gland papillary Microcarcinoma of the thyroid gland Papillary Microcarcinoma of the Thyroid Gland NCIT:C46004 Thyroid Gland Papillary Microcarcinoma confirmed papillary Microcarcinoma of the thyroid gland NCIT:C46004 NCIT MONDO:0011368 papillary thyroid Microcarcinoma oio:hasExactSynonym papillary thyroid Microcarcinoma papillary thyroid Microcarcinoma Papillary Thyroid Microcarcinoma NCIT:C46004 Thyroid Gland Papillary Microcarcinoma confirmed papillary thyroid Microcarcinoma NCIT:C46004 NCIT @@ -52656,7 +51577,6 @@ MONDO:0011424 Carney triad oio:hasExactSynonym Carney triad Carney triad Carney MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis confirmed Juvenile idiopathic arthritis NCIT:C114357 NCIT MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile idiopathic arthritis juvenile idiopathic arthritis Juvenile Idiopathic Arthritis NCIT:C114357 Juvenile Idiopathic Arthritis confirmed juvenile idiopathic arthritis NCIT:C114357 NCIT MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym JIA NCIT:C114357 Juvenile Idiopathic Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JIA NCIT:C114357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym juvenile rheumatoid arthritis juvenile rheumatoid arthritis Juvenile Rheumatoid Arthritis NCIT:C27179 Juvenile Rheumatoid Arthritis http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed juvenile rheumatoid arthritis NCIT:C27179 NCIT MONDO:0011438 acne oio:hasExactSynonym acne acne Acne NCIT:C27195 Acne confirmed acne NCIT:C27195 NCIT MONDO:0011438 acne oio:hasExactSynonym acne vulgaris acne vulgaris Acne Vulgaris NCIT:C27195 Acne confirmed acne vulgaris NCIT:C27195 NCIT MONDO:0011439 spinocerebellar ataxia type 12 oio:hasExactSynonym spinocerebellar ataxia type 12 spinocerebellar ataxia type 12 Spinocerebellar Ataxia Type 12 NCIT:C154316 Spinocerebellar Ataxia Type 12 confirmed spinocerebellar ataxia type 12 NCIT:C154316 NCIT @@ -52676,8 +51596,8 @@ MONDO:0011479 postural orthostatic tachycardia syndrome oio:hasExactSynonym POT MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 oio:hasExactSynonym catecholaminergic polymorphic ventricular tachycardia type 1 catecholaminergic polymorphic ventricular tachycardia type 1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 NCIT:C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 confirmed catecholaminergic polymorphic ventricular tachycardia type 1 NCIT:C123414 NCIT MONDO:0011493 Stickler syndrome type 2 oio:hasExactSynonym Stickler syndrome type II Stickler syndrome type II Stickler Syndrome Type II NCIT:C74985 Stickler Syndrome Type 2 confirmed Stickler syndrome type II NCIT:C74985 NCIT MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym cortisone reductase deficiency type 1 cortisone reductase deficiency type 1 Cortisone Reductase Deficiency Type 1 NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency confirmed cortisone reductase deficiency type 1 NCIT:C131849 NCIT -MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency confirmed hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 NCIT MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-Phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency confirmed hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 NCIT +MONDO:0011503 cortisone reductase deficiency 1 oio:hasExactSynonym hexose-6-phosphate dehydrogenase deficiency hexose-6-phosphate dehydrogenase deficiency Hexose-6-phosphate Dehydrogenase Deficiency NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency confirmed hexose-6-phosphate dehydrogenase deficiency NCIT:C131849 NCIT MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym Bohring-Opitz syndrome Bohring-Opitz syndrome Bohring-Opitz Syndrome NCIT:C131533 Bohring-Opitz Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bohring-Opitz syndrome NCIT:C131533 NCIT MONDO:0011514 tricuspid atresia oio:hasExactSynonym congenital atresia of tricuspid valve congenital atresia of tricuspid valve Congenital Atresia of Tricuspid Valve NCIT:C85202 Tricuspid Valve Atresia confirmed congenital atresia of tricuspid valve NCIT:C85202 NCIT MONDO:0011514 tricuspid atresia oio:hasExactSynonym tricuspid atresia tricuspid atresia Tricuspid Atresia NCIT:C85202 Tricuspid Valve Atresia confirmed tricuspid atresia NCIT:C85202 NCIT @@ -52696,13 +51616,12 @@ MONDO:0011612 glycine encephalopathy oio:hasExactSynonym glycine encephalopathy MONDO:0011628 propionic acidemia oio:hasExactSynonym propionic acidemia propionic acidemia Propionic Acidemia NCIT:C85030 Propionic Acidemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed propionic acidemia NCIT:C85030 NCIT MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym ALS21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALS21 NCIT:C168755 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis confirmed pars planitis NCIT:C34903 NCIT -MONDO:0011644 pars planitis oio:hasExactSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis confirmed pars planitis NCIT:C35110 NCIT MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym Phelan-McDermid syndrome Phelan-McDermid syndrome Phelan-McDermid Syndrome NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Phelan-McDermid syndrome NCIT:C157124 NCIT MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym PHMDS NCIT:C157124 Phelan-McDermid Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHMDS NCIT:C157124 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft Part sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft Part sarcoma NCIT:C3750 NCIT -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft part sarcoma NCIT:C3750 NCIT +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft Part sarcoma alveolar soft Part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft Part sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft part sarcoma NCIT:C3750 NCIT +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft part sarcoma alveolar soft part sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft part sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym alveolar soft-part sarcoma alveolar soft-part sarcoma Alveolar soft-part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma confirmed alveolar soft-part sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym ASPS NCIT:C3750 Alveolar Soft Part Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ASPS NCIT:C3750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym adult alveolar soft Part sarcoma adult alveolar soft Part sarcoma Adult Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma confirmed adult alveolar soft Part sarcoma NCIT:C7943 NCIT @@ -52771,7 +51690,6 @@ MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD NCIT:C53970 Osteofibrous Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD NCIT:C53970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent Ductus Arteriosus NCIT:C84492 Patent Ductus Arteriosus confirmed patent ductus arteriosus NCIT:C84492 NCIT MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C84492 Patent Ductus Arteriosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDA NCIT:C84492 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA NCIT:C9120 Pancreatic Ductal Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDA NCIT:C9120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid Hurthle cell carcinoma of the thyroid Hurthle Cell Carcinoma of the Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma confirmed Hurthle cell carcinoma of the thyroid NCIT:C4946 NCIT MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of the thyroid gland Hurthle cell carcinoma of the thyroid gland Hurthle Cell Carcinoma of the Thyroid Gland NCIT:C4946 Thyroid Gland Oncocytic Carcinoma confirmed Hurthle cell carcinoma of the thyroid gland NCIT:C4946 NCIT MONDO:0011836 thyroid Hurthle cell carcinoma oio:hasExactSynonym Hurthle cell carcinoma of thyroid Hurthle cell carcinoma of thyroid Hurthle Cell Carcinoma of Thyroid NCIT:C4946 Thyroid Gland Oncocytic Carcinoma confirmed Hurthle cell carcinoma of thyroid NCIT:C4946 NCIT @@ -52793,13 +51711,12 @@ MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym Niemann-Pick di MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym type C2 Niemann-Pick disease type C2 Niemann-Pick disease Type C2 Niemann-Pick Disease NCIT:C126865 Niemann-Pick Disease, Type C2 confirmed type C2 Niemann-Pick disease NCIT:C126865 NCIT MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym Tubulointerstitial nephritis and uveitis Tubulointerstitial nephritis and uveitis Tubulointerstitial Nephritis and Uveitis NCIT:C123021 Tubulointerstitial Nephritis and Uveitis confirmed Tubulointerstitial nephritis and uveitis NCIT:C123021 NCIT MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E NCIT:C134953 Charcot-Marie-Tooth Disease Type 2E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2E NCIT:C134953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 confirmed Tosti syndrome NCIT:C176939 NCIT MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair Noonan syndrome-like disorder with loose anagen hair Noonan Syndrome-Like Disorder with Loose Anagen Hair NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Noonan syndrome-like disorder with loose anagen hair NCIT:C178129 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelogenous leukemia juvenile chronic myelogenous leukemia Juvenile Chronic Myelogenous Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myelogenous leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myeloid leukemia juvenile chronic myeloid leukemia Juvenile Chronic Myeloid Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myeloid leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelomonocytic leukemia juvenile chronic myelomonocytic leukemia Juvenile Chronic Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myelomonocytic leukemia NCIT:C9233 NCIT -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT +MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JCML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JCML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JMML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JMML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011913 Alzheimer disease 3 oio:hasExactSynonym Alzheimer's disease 3 Alzheimer's disease 3 Alzheimer's Disease 3 NCIT:C123412 Alzheimer's Disease 3 confirmed Alzheimer's disease 3 NCIT:C123412 NCIT @@ -52823,7 +51740,6 @@ MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym dermatofibros MONDO:0011934 dermatofibrosarcoma protuberans oio:hasExactSynonym DFSP NCIT:C4683 Dermatofibrosarcoma Protuberans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DFSP NCIT:C4683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011959 sweet syndrome oio:hasExactSynonym sweet syndrome sweet syndrome Sweet Syndrome NCIT:C85177 Sweet Syndrome confirmed sweet syndrome NCIT:C85177 NCIT MONDO:0011962 endometrial cancer oio:hasExactSynonym malignant endometrial neoplasm malignant endometrial neoplasm Malignant Endometrial Neoplasm NCIT:C27815 Malignant Endometrial Neoplasm confirmed malignant endometrial neoplasm NCIT:C27815 NCIT -MONDO:0011962 endometrial cancer oio:hasExactSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma confirmed endometrial cancer NCIT:C7558 NCIT MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym CDGIj NCIT:C126874 Congenital Disorder of Glycosylation Type Ij confirmed CDGIj NCIT:C126874 NCIT MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym congenital disorder of glycosylation type Ij congenital disorder of glycosylation type Ij Congenital Disorder of Glycosylation Type Ij NCIT:C126874 Congenital Disorder of Glycosylation Type Ij confirmed congenital disorder of glycosylation type Ij NCIT:C126874 NCIT MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D oio:hasExactSynonym limb-girdle muscular dystrophy type 2D limb-girdle muscular dystrophy type 2D Limb-Girdle Muscular Dystrophy Type 2D NCIT:C142081 Limb-Girdle Muscular Dystrophy Type 2D confirmed limb-girdle muscular dystrophy type 2D NCIT:C142081 NCIT @@ -52969,13 +51885,11 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym early infantile epileptic encephalopathy 4 early infantile epileptic encephalopathy 4 Early Infantile Epileptic Encephalopathy 4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 confirmed early infantile epileptic encephalopathy 4 NCIT:C162472 NCIT MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym DEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym EIEE4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EIEE4 NCIT:C162472 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma NCIT:C4817 Ewing Sarcoma confirmed Ewing sarcoma NCIT:C4817 NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma Ewing Sarcoma NCIT:C4817 Ewing Sarcoma confirmed Ewing sarcoma NCIT:C4817 NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's sarcoma Ewing's sarcoma Ewing's Sarcoma NCIT:C4817 Ewing Sarcoma confirmed Ewing's sarcoma NCIT:C4817 NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing's tumor Ewing's tumor Ewing's Tumor NCIT:C4817 Ewing Sarcoma confirmed Ewing's tumor NCIT:C4817 NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym PNET of Thoracopulmonary region PNET of Thoracopulmonary region PNET of Thoracopulmonary Region NCIT:C7542 Askin Tumor confirmed PNET of Thoracopulmonary region NCIT:C7542 NCIT MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraosseous chondrosarcoma extraosseous chondrosarcoma Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma confirmed extraosseous chondrosarcoma NCIT:C27502 NCIT MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym extraskeletal chondrosarcoma extraskeletal chondrosarcoma Extraskeletal Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma confirmed extraskeletal chondrosarcoma NCIT:C27502 NCIT MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym myxoid extraosseous chondrosarcoma myxoid extraosseous chondrosarcoma Myxoid Extraosseous Chondrosarcoma NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma confirmed myxoid extraosseous chondrosarcoma NCIT:C27502 NCIT @@ -52998,7 +51912,6 @@ MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hemophilia C MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary Factor XI deficiency hereditary Factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency confirmed hereditary Factor XI deficiency NCIT:C84705 NCIT MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency hereditary factor XI deficiency Hereditary Factor XI Deficiency NCIT:C84705 Hereditary Factor XI Deficiency confirmed hereditary factor XI deficiency NCIT:C84705 NCIT MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym hereditary factor XI deficiency disease hereditary factor XI deficiency disease Hereditary Factor XI Deficiency Disease NCIT:C84705 Hereditary Factor XI Deficiency confirmed hereditary factor XI deficiency disease NCIT:C84705 NCIT -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance confirmed Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129721 NCIT MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance confirmed Albright Hereditary osteodystrophy with multiple hormone resistance NCIT:C129722 NCIT MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pseudopseudohypoparathyroidism NCIT:C129722 NCIT MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome NCIT:C122804 NCIT @@ -53058,8 +51971,8 @@ MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactS MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 stem cell syndrome 8p11 stem cell syndrome 8p11 Stem Cell Syndrome NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement confirmed 8p11 stem cell syndrome NCIT:C84277 NCIT MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with FGFR1 rearrangement myeloid and lymphoid neoplasms with FGFR1 rearrangement Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement confirmed myeloid and lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 NCIT MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with FGFR1 rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement confirmed myeloid/lymphoid neoplasms with FGFR1 rearrangement NCIT:C84277 NCIT -MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency confirmed aromatase deficiency NCIT:C120144 NCIT MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency NCIT:C120144 P450-Aromatase Deficiency confirmed aromatase deficiency NCIT:C120144 NCIT +MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase Deficiency NCIT:C120144 P450-Aromatase Deficiency confirmed aromatase deficiency NCIT:C120144 NCIT MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym primary hyperoxaluria type III primary hyperoxaluria type III Primary Hyperoxaluria Type III NCIT:C123214 Primary Hyperoxaluria Type III confirmed primary hyperoxaluria type III NCIT:C123214 NCIT MONDO:0013333 odontoid hypoplasia oio:hasExactSynonym odontoid hypoplasia odontoid hypoplasia Odontoid Hypoplasia NCIT:C86969 Odontoid Hypoplasia confirmed odontoid hypoplasia NCIT:C86969 NCIT MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency C1q Deficiency NCIT:C119990 C1q Deficiency confirmed C1q deficiency NCIT:C119990 NCIT @@ -53110,8 +52023,8 @@ MONDO:0013662 Barrett esophagus oio:hasExactSynonym columnar-lined esophagus co MONDO:0013662 Barrett esophagus oio:hasExactSynonym CELLO cello CELLO NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CELLO NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013662 Barrett esophagus oio:hasExactSynonym BE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE NCIT:C2891 Barrett Esophagus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLE NCIT:C2891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed neurodegeneration with brain iron accumulation 4 NCIT:C175707 NCIT MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration With Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed neurodegeneration with brain iron accumulation 4 NCIT:C175707 NCIT +MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed neurodegeneration with brain iron accumulation 4 NCIT:C175707 NCIT MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym NBIA4 NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBIA4 NCIT:C175707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym alpha-methylacyl-CoA racemase deficiency alpha-methylacyl-CoA racemase deficiency Alpha-Methylacyl-CoA Racemase Deficiency NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed alpha-methylacyl-CoA racemase deficiency NCIT:C119677 NCIT MONDO:0013681 alpha-methylacyl-CoA racemase deficiency oio:hasExactSynonym AMACR NCIT:C119677 Alpha-Methylacyl-CoA Racemase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMACR NCIT:C119677 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -53184,8 +52097,8 @@ MONDO:0014378 primary ciliary dyskinesia 29 oio:hasExactSynonym CILD29 NCIT:C MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroidism familial Dysalbuminemic hyperthyroidism Familial Dysalbuminemic Hyperthyroidism NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism confirmed familial Dysalbuminemic hyperthyroidism NCIT:C131813 NCIT MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroxinemia familial Dysalbuminemic hyperthyroxinemia Familial Dysalbuminemic Hyperthyroxinemia NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism confirmed familial Dysalbuminemic hyperthyroxinemia NCIT:C131813 NCIT MONDO:0014452 familial dysfibrinogenemia oio:hasExactSynonym dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia NCIT:C131659 Dysfibrinogenemia confirmed dysfibrinogenemia NCIT:C131659 NCIT -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CHAI chai CHAI NCIT:C126341 CTLA4 Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHAI NCIT:C126341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0014521 progressive myoclonic epilepsy type 7 oio:hasExactSynonym EPM7 NCIT:C142804 Epilepsy, Progressive Myoclonic 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPM7 NCIT:C142804 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect oio:hasExactSynonym mUPD14 syndrome mUPD14 syndrome mUPD14 Syndrome NCIT:C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome confirmed mUPD14 syndrome NCIT:C120409 NCIT @@ -53222,10 +52135,10 @@ MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym familia MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym FIHP NCIT:C94830 Hereditary Isolated Hyperparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FIHP NCIT:C94830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome confirmed 48, XXYY Syndrome NCIT:C89801 NCIT MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY syndrome 48, XXYY syndrome 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome confirmed 48, XXYY syndrome NCIT:C89801 NCIT -MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT -MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT +MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT +MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma (WHO grade I) intraneural perineurioma (WHO grade I) Intraneural Perineurioma (WHO Grade I) NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma (WHO grade I) NCIT:C6911 NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym myelodysplastic syndrome with Excess blasts-2 myelodysplastic syndrome with Excess blasts-2 Myelodysplastic Syndrome with Excess Blasts-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia confirmed myelodysplastic syndrome with Excess blasts-2 NCIT:C7168 NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym MDS-EB-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-EB-2 NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -53235,17 +52148,17 @@ MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu Heavy Chain Disease NCIT:C3892 Mu Heavy Chain Disease confirmed mu heavy chain disease NCIT:C3892 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease Alpha heavy chain disease Alpha Heavy Chain Disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Alpha heavy chain disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Alpha heavy chain disease NCIT:C3132 NCIT -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Immunoproliferative small intestinal disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease Immunoproliferative small intestinal disease Immunoproliferative Small Intestinal Disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Immunoproliferative small intestinal disease NCIT:C3132 NCIT +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Immunoproliferative small intestinal disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean abdominal lymphoma Mediterranean abdominal lymphoma Mediterranean Abdominal Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean abdominal lymphoma NCIT:C3132 NCIT -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym IPSID NCIT:C3132 Alpha Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IPSID NCIT:C3132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease Franklin disease Franklin Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin's disease Franklin's disease Franklin's Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin's disease NCIT:C3083 NCIT -MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma heavy chain disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT +MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent Aphasia NCIT:C85025 Primary Progressive Nonfluent Aphasia confirmed Primary Progressive Nonfluent aphasia NCIT:C85025 NCIT MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric NET gastric NET Gastric NET NCIT:C95871 Gastric Neuroendocrine Tumor confirmed gastric NET NCIT:C95871 NCIT MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric neuroendocrine tumor gastric neuroendocrine tumor Gastric Neuroendocrine Tumor NCIT:C95871 Gastric Neuroendocrine Tumor confirmed gastric neuroendocrine tumor NCIT:C95871 NCIT @@ -53289,7 +52202,6 @@ MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym carcinoma of thyroid gland carcinoma of thyroid gland Carcinoma of Thyroid Gland NCIT:C4815 Thyroid Gland Carcinoma confirmed carcinoma of thyroid gland NCIT:C4815 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid carcinoma thyroid carcinoma Thyroid Carcinoma NCIT:C4815 Thyroid Gland Carcinoma confirmed thyroid carcinoma NCIT:C4815 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym thyroid gland carcinoma thyroid gland carcinoma Thyroid Gland Carcinoma NCIT:C4815 Thyroid Gland Carcinoma confirmed thyroid gland carcinoma NCIT:C4815 NCIT -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune Adrenalitis NCIT:C113814 Autoimmune Primary Adrenal Insufficiency confirmed autoimmune adrenalitis NCIT:C113814 NCIT MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Addison disease Addison Disease NCIT:C26689 Addison's Disease confirmed Addison disease NCIT:C26689 NCIT MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison's disease Addison's disease Addison's Disease NCIT:C26689 Addison's Disease confirmed Addison's disease NCIT:C26689 NCIT MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym primary hypoadrenalism primary hypoadrenalism Primary Hypoadrenalism NCIT:C26689 Addison's Disease confirmed primary hypoadrenalism NCIT:C26689 NCIT @@ -53414,18 +52326,15 @@ MONDO:0015528 congenital epulis oio:hasExactSynonym congenital epulis congenita MONDO:0015528 congenital epulis oio:hasExactSynonym congenital granular cell tumor congenital granular cell tumor Congenital Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis confirmed congenital granular cell tumor NCIT:C4675 NCIT MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym juvenile xanthogranuloma juvenile xanthogranuloma Juvenile Xanthogranuloma NCIT:C3451 Juvenile Xanthogranuloma confirmed juvenile xanthogranuloma NCIT:C3451 NCIT MONDO:0015534 juvenile xanthogranuloma oio:hasExactSynonym JXG NCIT:C3451 Juvenile Xanthogranuloma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JXG NCIT:C3451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate Dendritic cell tumor NCIT:C81767 NCIT MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate Dendritic cell tumor NCIT:C81767 NCIT +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate Dendritic cell tumor indeterminate Dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate Dendritic cell tumor NCIT:C81767 NCIT MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate cell histiocytosis indeterminate cell histiocytosis Indeterminate Cell Histiocytosis NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate cell histiocytosis NCIT:C81767 NCIT -MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate dendritic cell tumor NCIT:C81767 NCIT MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate dendritic cell tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate dendritic cell tumor NCIT:C81767 NCIT +MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym indeterminate dendritic cell tumor indeterminate dendritic cell tumor Indeterminate Dendritic Cell Tumor NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis confirmed indeterminate dendritic cell tumor NCIT:C81767 NCIT MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis confirmed Hemophagocytic Lymphohistiocytosis NCIT:C34792 NCIT MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis NCIT:C34792 Hemophagocytic Lymphohistiocytosis confirmed hemophagocytic lymphohistiocytosis NCIT:C34792 NCIT -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym hemophagocytic syndrome hemophagocytic syndrome Hemophagocytic Syndrome NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis confirmed hemophagocytic syndrome NCIT:C61276 NCIT MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym reactive hemophagocytic lymphohistiocytosis reactive hemophagocytic lymphohistiocytosis Reactive Hemophagocytic Lymphohistiocytosis NCIT:C114471 Macrophage Activation Syndrome confirmed reactive hemophagocytic lymphohistiocytosis NCIT:C114471 NCIT MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015545 macrophage activation syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman disease Castleman disease Castleman Disease NCIT:C3056 Castleman Disease confirmed Castleman disease NCIT:C3056 NCIT MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's disease Castleman's disease Castleman's Disease NCIT:C3056 Castleman Disease confirmed Castleman's disease NCIT:C3056 NCIT MONDO:0015564 Castleman disease oio:hasExactSynonym Castleman's tumor Castleman's tumor Castleman's Tumor NCIT:C3056 Castleman Disease confirmed Castleman's tumor NCIT:C3056 NCIT @@ -53460,21 +52369,21 @@ MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritone MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritoneal carcinoma primary peritoneal carcinoma Primary Peritoneal Carcinoma NCIT:C40022 Primary Peritoneal Carcinoma confirmed primary peritoneal carcinoma NCIT:C40022 NCIT MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym PPC NCIT:C40022 Primary Peritoneal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPC NCIT:C40022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym chronic eosinophilic leukemia chronic eosinophilic leukemia Chronic Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified confirmed chronic eosinophilic leukemia NCIT:C4563 NCIT -MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified confirmed eosinophilic leukemia NCIT:C4563 NCIT MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified confirmed eosinophilic leukemia NCIT:C4563 NCIT +MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym eosinophilic leukemia eosinophilic leukemia Eosinophilic Leukemia NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified confirmed eosinophilic leukemia NCIT:C4563 NCIT MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym CEL NCIT:C4563 Chronic Eosinophilic Leukemia, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CEL NCIT:C4563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 NCIT MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 NCIT MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 NCIT -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid/lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRB rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT +MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid/lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT -MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT +MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT MONDO:0015692 refractory anemia with excess blasts in transformation oio:hasExactSynonym RAEB-T RAEB-t RAEB-T NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB-T NCIT:C27080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy Transient Hypogammaglobulinemia of Infancy NCIT:C27071 Transient Hypogammaglobulinemia of Infancy confirmed transient hypogammaglobulinemia of infancy NCIT:C27071 NCIT MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym THI NCIT:C27071 Transient Hypogammaglobulinemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed THI NCIT:C27071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -53517,18 +52426,18 @@ MONDO:0015806 adult intestinal botulism oio:hasExactSynonym adult intestinal to MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym follicular mycosis fungoides follicular mycosis fungoides Follicular Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed follicular mycosis fungoides NCIT:C35685 NCIT MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym folliculotropic mycosis fungoides folliculotropic mycosis fungoides Folliculotropic Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed folliculotropic mycosis fungoides NCIT:C35685 NCIT MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym mycosis fungoides-associated follicular mucinosis mycosis fungoides-associated follicular mucinosis Mycosis Fungoides-Associated Follicular Mucinosis NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed mycosis fungoides-associated follicular mucinosis NCIT:C35685 NCIT -MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT +MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym cutaneous Immunocytoma cutaneous Immunocytoma Cutaneous Immunocytoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed cutaneous Immunocytoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of skin marginal zone B cell lymphoma of skin Marginal Zone B Cell Lymphoma of Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed marginal zone B cell lymphoma of skin NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of the skin marginal zone B cell lymphoma of the skin Marginal Zone B Cell Lymphoma of the Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed marginal zone B cell lymphoma of the skin NCIT:C7230 NCIT -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-Associated Lymphoid Tissue Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym C-MALT NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed C-MALT NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym PCMZL NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCMZL NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym Crosti's disease Crosti's disease Crosti's Disease NCIT:C7217 Primary Cutaneous Follicle Center Lymphoma confirmed Crosti's disease NCIT:C7217 NCIT @@ -53539,8 +52448,8 @@ MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym PC MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell neoplasm combined germ cell neoplasm Combined Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor confirmed combined germ cell neoplasm NCIT:C4290 NCIT MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym combined germ cell tumor combined germ cell tumor Combined Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor confirmed combined germ cell tumor NCIT:C4290 NCIT MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell neoplasm mixed germ cell neoplasm Mixed Germ Cell Neoplasm NCIT:C4290 Mixed Germ Cell Tumor confirmed mixed germ cell neoplasm NCIT:C4290 NCIT -MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor confirmed mixed germ cell tumor NCIT:C4290 NCIT MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor confirmed mixed germ cell tumor NCIT:C4290 NCIT +MONDO:0015864 mixed germ cell tumor oio:hasExactSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor confirmed mixed germ cell tumor NCIT:C4290 NCIT MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of the vagina carcinoma of the vagina Carcinoma of the Vagina NCIT:C3917 Vaginal Carcinoma confirmed carcinoma of the vagina NCIT:C3917 NCIT MONDO:0015867 vaginal carcinoma oio:hasExactSynonym carcinoma of vagina carcinoma of vagina Carcinoma of Vagina NCIT:C3917 Vaginal Carcinoma confirmed carcinoma of vagina NCIT:C3917 NCIT MONDO:0015867 vaginal carcinoma oio:hasExactSynonym vagina carcinoma vagina carcinoma Vagina Carcinoma NCIT:C3917 Vaginal Carcinoma confirmed vagina carcinoma NCIT:C3917 NCIT @@ -53555,7 +52464,6 @@ MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget disease of MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of nipple Paget's disease of nipple Paget's Disease of Nipple NCIT:C3301 Nipple Paget Disease confirmed Paget's disease of nipple NCIT:C3301 NCIT MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's disease of the nipple Paget's disease of the nipple Paget's Disease of the Nipple NCIT:C3301 Nipple Paget Disease confirmed Paget's disease of the nipple NCIT:C3301 NCIT MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym nipple Paget's disease nipple Paget's disease Nipple Paget's Disease NCIT:C3301 Nipple Paget Disease confirmed nipple Paget's disease NCIT:C3301 NCIT -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym Paget's Disease of the Breast NCIT:C47857 Breast Paget Disease confirmed Paget's Disease of the Breast NCIT:C47857 NCIT MONDO:0015892 growth hormone insensitivity syndrome oio:hasExactSynonym Growth hormone insensitivity syndromes Growth hormone insensitivity syndromes Growth Hormone Insensitivity Syndromes NCIT:C129867 Growth Hormone Insensitivity Syndrome confirmed Growth hormone insensitivity syndromes NCIT:C129867 NCIT MONDO:0015903 hyperalphalipoproteinemia oio:hasExactSynonym HALP1 NCIT:C128806 Hyperalphalipoproteinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HALP1 NCIT:C128806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym May-Hegglin anomaly May-Hegglin anomaly May-Hegglin Anomaly NCIT:C131646 May-Hegglin Anomaly confirmed May-Hegglin anomaly NCIT:C131646 NCIT @@ -53573,9 +52481,7 @@ MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynon MONDO:0016001 2-hydroxyglutaric aciduria oio:hasExactSynonym 2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria 2-Hydroxyglutaric Aciduria NCIT:C128187 2-Hydroxyglutaric Aciduria confirmed 2-hydroxyglutaric aciduria NCIT:C128187 NCIT MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal Coumadin syndrome fetal Coumadin syndrome Fetal Coumadin Syndrome NCIT:C98906 Fetal Warfarin Syndrome confirmed fetal Coumadin syndrome NCIT:C98906 NCIT MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym fetal warfarin syndrome fetal warfarin syndrome Fetal Warfarin Syndrome NCIT:C98906 Fetal Warfarin Syndrome confirmed fetal warfarin syndrome NCIT:C98906 NCIT -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016011 fetal alcohol syndrome oio:hasExactSynonym ARBD NCIT:C92727 Alcohol Related Birth Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARBD NCIT:C92727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis confirmed Rasmussen Encephalitis NCIT:C125384 NCIT MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym Rasmussen encephalitis Rasmussen encephalitis Rasmussen Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis confirmed Rasmussen encephalitis NCIT:C125384 NCIT MONDO:0016019 Rasmussen subacute encephalitis oio:hasExactSynonym chronic focal encephalitis chronic focal encephalitis Chronic Focal Encephalitis NCIT:C125384 Rasmussen Subacute Encephalitis confirmed chronic focal encephalitis NCIT:C125384 NCIT @@ -53623,7 +52529,6 @@ MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasE MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase oio:hasExactSynonym isolated hyperCKemia isolated hyperCKemia Isolated HyperCKemia NCIT:C148327 HyperCKmia confirmed isolated hyperCKemia NCIT:C148327 NCIT MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic Gastroenteritis NCIT:C35330 Eosinophilic Gastroenteritis confirmed eosinophilic gastroenteritis NCIT:C35330 NCIT MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym spinocerebellar ataxia type 7 spinocerebellar ataxia type 7 Spinocerebellar Ataxia Type 7 NCIT:C126562 Spinocerebellar Ataxia Type 7 confirmed spinocerebellar ataxia type 7 NCIT:C126562 NCIT -MONDO:0016167 optic pathway glioma oio:hasExactSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma confirmed visual pathway glioma NCIT:C7535 NCIT MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of the visual pathway glioma of the visual pathway Glioma of the Visual Pathway NCIT:C8567 Visual Pathway Glioma confirmed glioma of the visual pathway NCIT:C8567 NCIT MONDO:0016167 optic pathway glioma oio:hasExactSynonym glioma of visual pathway glioma of visual pathway Glioma of Visual Pathway NCIT:C8567 Visual Pathway Glioma confirmed glioma of visual pathway NCIT:C8567 NCIT MONDO:0016167 optic pathway glioma oio:hasExactSynonym optic pathway glioma optic pathway glioma Optic Pathway Glioma NCIT:C8567 Visual Pathway Glioma confirmed optic pathway glioma NCIT:C8567 NCIT @@ -53643,23 +52548,21 @@ MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barre syndro MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain Barré syndrome Guillain Barré syndrome Guillain Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome confirmed Guillain Barré syndrome NCIT:C116345 NCIT MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym Guillain-Barré syndrome Guillain-Barré syndrome Guillain-Barré Syndrome NCIT:C116345 Guillain-Barre Syndrome confirmed Guillain-Barré syndrome NCIT:C116345 NCIT MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C116345 Guillain-Barre Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GBS NCIT:C116345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016218 Guillain-Barre syndrome oio:hasExactSynonym GBS NCIT:C87168 Group B Streptococcal Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GBS NCIT:C87168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle -cell hemangioma spindle -cell hemangioma Spindle -Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma confirmed spindle -cell hemangioma NCIT:C4754 NCIT -MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma confirmed spindle cell hemangioendothelioma NCIT:C4754 NCIT MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle cell hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma confirmed spindle cell hemangioendothelioma NCIT:C4754 NCIT +MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioendothelioma spindle cell hemangioendothelioma Spindle Cell Hemangioendothelioma NCIT:C4754 Spindle Cell Hemangioma confirmed spindle cell hemangioendothelioma NCIT:C4754 NCIT MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym spindle cell hemangioma spindle cell hemangioma Spindle Cell Hemangioma NCIT:C4754 Spindle Cell Hemangioma confirmed spindle cell hemangioma NCIT:C4754 NCIT MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym SCH SCh SCH NCIT:C4754 Spindle Cell Hemangioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCH NCIT:C4754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma confirmed Kaposiform hemangioendothelioma NCIT:C27510 NCIT MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma confirmed Kaposiform hemangioendothelioma NCIT:C27510 NCIT +MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma confirmed Kaposiform hemangioendothelioma NCIT:C27510 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous mesothelioma localized fibrous mesothelioma Localized Fibrous Mesothelioma NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous mesothelioma NCIT:C7634 NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized fibrous tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary fibrous tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym submesothelial fibroma submesothelial fibroma Submesothelial Fibroma NCIT:C7634 Solitary Fibrous Tumor confirmed submesothelial fibroma NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym SFT NCIT:C7634 Solitary Fibrous Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SFT NCIT:C7634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis cystinosis Cystinosis NCIT:C2976 Cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cystinosis NCIT:C2976 NCIT -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita confirmed adrenal hypoplasia congenita NCIT:C123725 NCIT MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia confirmed adrenal hypoplasia congenita NCIT:C35261 NCIT MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal Hypoplasia congenital adrenal Hypoplasia Congenital Adrenal Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia confirmed congenital adrenal Hypoplasia NCIT:C35261 NCIT MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym congenital adrenal gland hypoplasia congenital adrenal gland hypoplasia Congenital Adrenal Gland Hypoplasia NCIT:C35261 Congenital Adrenal Gland Hypoplasia confirmed congenital adrenal gland hypoplasia NCIT:C35261 NCIT @@ -53739,7 +52642,6 @@ MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AAP MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym AFAP NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AFAP NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016362 attenuated familial adenomatous polyposis oio:hasExactSynonym HFAS NCIT:C6729 Attenuated Familial Adenomatous Polyposis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HFAS NCIT:C6729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016367 dermatomyositis oio:hasExactSynonym dermatomyositis dermatomyositis Dermatomyositis NCIT:C26744 Dermatomyositis confirmed dermatomyositis NCIT:C26744 NCIT -MONDO:0016367 dermatomyositis oio:hasExactSynonym DM NCIT:C2985 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DM NCIT:C2985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016391 neonatal diabetes mellitus oio:hasExactSynonym congenital diabetes mellitus congenital diabetes mellitus Congenital Diabetes Mellitus NCIT:C99248 Neonatal Diabetes Mellitus confirmed congenital diabetes mellitus NCIT:C99248 NCIT MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym TSH deficiency TSH deficiency TSH Deficiency NCIT:C113144 Central Hypothyroidism confirmed TSH deficiency NCIT:C113144 NCIT MONDO:0016410 central congenital hypothyroidism oio:hasExactSynonym central hypothyroidism central hypothyroidism Central Hypothyroidism NCIT:C113144 Central Hypothyroidism confirmed central hypothyroidism NCIT:C113144 NCIT @@ -53787,10 +52689,10 @@ MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of lung congenital cystic adenomatoid malformation of lung Congenital Cystic Adenomatoid Malformation of Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung confirmed congenital cystic adenomatoid malformation of lung NCIT:C98892 NCIT MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of the lung congenital cystic adenomatoid malformation of the lung Congenital Cystic Adenomatoid Malformation of the Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung confirmed congenital cystic adenomatoid malformation of the lung NCIT:C98892 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic mastocytosis systemic mastocytosis Systemic Mastocytosis NCIT:C9235 Systemic Mastocytosis confirmed systemic mastocytosis NCIT:C9235 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic RVD arrhythmogenic RVD Arrhythmogenic RVD NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed arrhythmogenic RVD NCIT:C84571 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia Arrhythmogenic Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed arrhythmogenic right ventricular dysplasia NCIT:C84571 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym right ventricular dysplasia right ventricular dysplasia Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed right ventricular dysplasia NCIT:C84571 NCIT @@ -53802,7 +52704,6 @@ MONDO:0016611 lipoblastoma oio:hasExactSynonym embryonic lipoma embryonic lipom MONDO:0016611 lipoblastoma oio:hasExactSynonym fetal lipoma fetal lipoma Fetal Lipoma NCIT:C27483 Lipoblastoma confirmed fetal lipoma NCIT:C27483 NCIT MONDO:0016611 lipoblastoma oio:hasExactSynonym infantile lipoma infantile lipoma Infantile Lipoma NCIT:C27483 Lipoblastoma confirmed infantile lipoma NCIT:C27483 NCIT MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma confirmed meningioma NCIT:C3230 NCIT -MONDO:0016642 meningioma oio:hasExactSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma confirmed meningioma NCIT:C8264 NCIT MONDO:0016654 ring chromosome 5 oio:hasExactSynonym rose cluster 5 rose cluster 5 ROSE Cluster 5 NCIT:C121984 ROSE Cluster 5 confirmed rose cluster 5 NCIT:C121984 NCIT MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced cutaneous vasculitis drug induced cutaneous vasculitis Drug Induced Cutaneous Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis confirmed drug induced cutaneous vasculitis NCIT:C112204 NCIT MONDO:0016664 drug-induced vasculitis oio:hasExactSynonym drug induced vasculitis drug induced vasculitis Drug Induced Vasculitis NCIT:C112204 Drug Induced Cutaneous Vasculitis confirmed drug induced vasculitis NCIT:C112204 NCIT @@ -53835,19 +52736,18 @@ MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytic tumor MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytoma grade II astrocytoma Grade II Astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed grade II astrocytoma NCIT:C7173 NCIT MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic astrocytoma NCIT:C4320 Protoplasmic Astrocytoma confirmed protoplasmic astrocytoma NCIT:C4320 NCIT MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic Astrocytoma NCIT:C4320 Protoplasmic Astrocytoma confirmed protoplasmic astrocytoma NCIT:C4320 NCIT -MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT +MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym Gemistocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed Gemistocytoma NCIT:C4321 NCIT -MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT +MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym pleomorphic Xantho-astrocytoma pleomorphic Xantho-astrocytoma Pleomorphic Xantho-Astrocytoma NCIT:C4323 Pleomorphic Xanthoastrocytoma confirmed pleomorphic Xantho-astrocytoma NCIT:C4323 NCIT MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym PXA NCIT:C4323 Pleomorphic Xanthoastrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PXA NCIT:C4323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic neoplasm grade I astrocytic neoplasm Grade I Astrocytic Neoplasm NCIT:C4047 Pilocytic Astrocytoma confirmed grade I astrocytic neoplasm NCIT:C4047 NCIT MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic tumor grade I astrocytic tumor Grade I Astrocytic Tumor NCIT:C4047 Pilocytic Astrocytoma confirmed grade I astrocytic tumor NCIT:C4047 NCIT MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytoma grade I astrocytoma Grade I Astrocytoma NCIT:C4047 Pilocytic Astrocytoma confirmed grade I astrocytoma NCIT:C4047 NCIT -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma confirmed pilocytic astrocytoma NCIT:C4047 NCIT MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma confirmed pilocytic astrocytoma NCIT:C4047 NCIT -MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma confirmed pilocytic astrocytoma NCIT:C4048 NCIT +MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma confirmed pilocytic astrocytoma NCIT:C4047 NCIT MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic neoplasm Subependymal Giant Cell Astrocytic Neoplasm NCIT:C3696 Subependymal Giant Cell Astrocytoma confirmed subependymal giant cell astrocytic neoplasm NCIT:C3696 NCIT MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym subependymal giant cell astrocytic tumor subependymal giant cell astrocytic tumor Subependymal Giant Cell Astrocytic Tumor NCIT:C3696 Subependymal Giant Cell Astrocytoma confirmed subependymal giant cell astrocytic tumor NCIT:C3696 NCIT MONDO:0016693 subependymal giant cell astrocytoma oio:hasExactSynonym SEGA NCIT:C3696 Subependymal Giant Cell Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SEGA NCIT:C3696 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -53856,8 +52756,6 @@ MONDO:0016695 oligodendroglioma oio:hasExactSynonym WHO grade II oligodendrogli MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma confirmed oligodendroglioma NCIT:C3288 NCIT MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglial tumor well differentiated oligodendroglial tumor Well Differentiated Oligodendroglial Tumor NCIT:C3288 Oligodendroglioma confirmed well differentiated oligodendroglial tumor NCIT:C3288 NCIT MONDO:0016695 oligodendroglioma oio:hasExactSynonym well differentiated oligodendroglioma well differentiated oligodendroglioma Well Differentiated Oligodendroglioma NCIT:C3288 Oligodendroglioma confirmed well differentiated oligodendroglioma NCIT:C3288 NCIT -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma confirmed oligodendroglioma NCIT:C4014 NCIT -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma confirmed oligodendroglioma NCIT:C4045 NCIT MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial neoplasm WHO grade III oligodendroglial neoplasm WHO Grade III Oligodendroglial Neoplasm NCIT:C4326 Anaplastic Oligodendroglioma confirmed WHO grade III oligodendroglial neoplasm NCIT:C4326 NCIT MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym WHO grade III oligodendroglial tumor WHO grade III oligodendroglial tumor WHO Grade III Oligodendroglial Tumor NCIT:C4326 Anaplastic Oligodendroglioma confirmed WHO grade III oligodendroglial tumor NCIT:C4326 NCIT MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym anaplastic oligodendroglioma anaplastic oligodendroglioma Anaplastic Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma confirmed anaplastic oligodendroglioma NCIT:C4326 NCIT @@ -53865,7 +52763,6 @@ MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym malignant oligod MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym oligodendroglioma, malignant oligodendroglioma, malignant Oligodendroglioma, Malignant NCIT:C4326 Anaplastic Oligodendroglioma confirmed oligodendroglioma, malignant NCIT:C4326 NCIT MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym undifferentiated oligodendroglioma undifferentiated oligodendroglioma Undifferentiated Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma confirmed undifferentiated oligodendroglioma NCIT:C4326 NCIT MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma confirmed ependymoma NCIT:C3017 NCIT -MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma confirmed ependymoma NCIT:C8578 NCIT MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma confirmed ependymoma, benign NCIT:C3697 NCIT MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary Ependymoma NCIT:C3697 Myxopapillary Ependymoma confirmed myxopapillary ependymoma NCIT:C3697 NCIT MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary ependymoma NCIT:C3697 Myxopapillary Ependymoma confirmed myxopapillary ependymoma NCIT:C3697 NCIT @@ -53878,7 +52775,6 @@ MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym malignant ependymoma ma MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal neoplasm undifferentiated ependymal neoplasm Undifferentiated Ependymal Neoplasm NCIT:C4049 Anaplastic Ependymoma confirmed undifferentiated ependymal neoplasm NCIT:C4049 NCIT MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymal tumor undifferentiated ependymal tumor Undifferentiated Ependymal Tumor NCIT:C4049 Anaplastic Ependymoma confirmed undifferentiated ependymal tumor NCIT:C4049 NCIT MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym undifferentiated ependymoma undifferentiated ependymoma Undifferentiated Ependymoma NCIT:C4049 Anaplastic Ependymoma confirmed undifferentiated ependymoma NCIT:C4049 NCIT -MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma confirmed anaplastic ependymoma NCIT:C8269 NCIT MONDO:0016702 oligoastrocytoma oio:hasExactSynonym WHO grade II mixed glioma WHO grade II mixed glioma WHO Grade II Mixed Glioma NCIT:C4050 Oligoastrocytoma confirmed WHO grade II mixed glioma NCIT:C4050 NCIT MONDO:0016702 oligoastrocytoma oio:hasExactSynonym glioma, mixed, benign glioma, mixed, benign GLIOMA, MIXED, BENIGN NCIT:C4050 Oligoastrocytoma confirmed glioma, mixed, benign NCIT:C4050 NCIT MONDO:0016702 oligoastrocytoma oio:hasExactSynonym mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial neoplasm Mixed Astrocytic-Oligodendroglial Neoplasm NCIT:C4050 Oligoastrocytoma confirmed mixed astrocytic-oligodendroglial neoplasm NCIT:C4050 NCIT @@ -53899,14 +52795,14 @@ MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordo MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the 3rd ventricle chordoid glioma of the 3rd ventricle Chordoid Glioma of the 3rd Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the 3rd ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle chordoid glioma of the third ventricle Chordoid Glioma of the Third Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle (WHO grade II) chordoid glioma of the third ventricle (WHO grade II) Chordoid Glioma of the Third Ventricle (WHO Grade II) NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the third ventricle (WHO grade II) NCIT:C5592 NCIT -MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid Glioma of Third Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT +MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym third ventricle chordoid glioma third ventricle chordoid glioma Third Ventricle Chordoid Glioma NCIT:C5592 Chordoid Glioma confirmed third ventricle chordoid glioma NCIT:C5592 NCIT MONDO:0016707 astroblastoma oio:hasExactSynonym astroblastoma astroblastoma Astroblastoma NCIT:C4324 Astroblastoma, MN1-Altered confirmed astroblastoma NCIT:C4324 NCIT MONDO:0016709 anaplastic/large cell medulloblastoma oio:hasExactSynonym large cell/anaplastic medulloblastoma large cell/anaplastic medulloblastoma Large Cell/Anaplastic Medulloblastoma NCIT:C129436 Large Cell/Anaplastic Medulloblastoma confirmed large cell/anaplastic medulloblastoma NCIT:C129436 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym cerebellar neuroblastoma cerebellar neuroblastoma Cerebellar Neuroblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed cerebellar neuroblastoma NCIT:C5407 NCIT -MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT +MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity and advanced neuronal differentiation medulloblastoma with extensive nodularity and advanced neuronal differentiation Medulloblastoma with Extensive Nodularity and Advanced Neuronal Differentiation NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity and advanced neuronal differentiation NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym nodular medulloblastoma nodular medulloblastoma Nodular Medulloblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed nodular medulloblastoma NCIT:C5407 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym Desmoplastic medulloblastoma Desmoplastic medulloblastoma Desmoplastic Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed Desmoplastic medulloblastoma NCIT:C4956 NCIT @@ -53924,22 +52820,18 @@ MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multila MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered confirmed embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C4915 NCIT MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with abundant neuropil and true Rosettes embryonal tumor with abundant neuropil and true Rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered confirmed embryonal tumor with abundant neuropil and true Rosettes NCIT:C4915 NCIT MONDO:0016715 ependymoblastoma oio:hasExactSynonym ependymoblastoma ependymoblastoma Ependymoblastoma NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered confirmed ependymoblastoma NCIT:C4915 NCIT -MONDO:0016715 ependymoblastoma oio:hasExactSynonym embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with Multilayered Rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered confirmed embryonal tumor with Multilayered Rosettes, C19MC-altered NCIT:C8290 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm confirmed choroid plexus neoplasm NCIT:C3473 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus tumor choroid plexus tumor Choroid Plexus Tumor NCIT:C3473 Choroid Plexus Neoplasm confirmed choroid plexus tumor NCIT:C3473 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of choroid plexus neoplasm of choroid plexus Neoplasm of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm confirmed neoplasm of choroid plexus NCIT:C3473 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym neoplasm of the choroid plexus neoplasm of the choroid plexus Neoplasm of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm confirmed neoplasm of the choroid plexus NCIT:C3473 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm confirmed tumor of choroid plexus NCIT:C3473 NCIT MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym tumor of the choroid plexus tumor of the choroid plexus Tumor of the Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm confirmed tumor of the choroid plexus NCIT:C3473 NCIT -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm confirmed choroid plexus neoplasm NCIT:C42080 NCIT -MONDO:0016717 choroid plexus neoplasm oio:hasExactSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm confirmed choroid plexus neoplasm NCIT:C8568 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma anaplastic choroid plexus papilloma Anaplastic Choroid Plexus Papilloma NCIT:C4715 Choroid Plexus Carcinoma confirmed anaplastic choroid plexus papilloma NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of choroid plexus carcinoma of choroid plexus Carcinoma of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma confirmed carcinoma of choroid plexus NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma of the choroid plexus carcinoma of the choroid plexus Carcinoma of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma confirmed carcinoma of the choroid plexus NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym carcinoma, choroid plexus, malignant carcinoma, choroid plexus, malignant CARCINOMA, CHOROID PLEXUS, MALIGNANT NCIT:C4715 Choroid Plexus Carcinoma confirmed carcinoma, choroid plexus, malignant NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma confirmed choroid plexus carcinoma NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma confirmed choroid plexus carcinoma NCIT:C4715 NCIT -MONDO:0016722 pineoblastoma oio:hasExactSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma confirmed pineoblastoma NCIT:C8292 NCIT MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of pineal gland PNET of pineal gland PNET of Pineal Gland NCIT:C9344 Pineoblastoma confirmed PNET of pineal gland NCIT:C9344 NCIT MONDO:0016722 pineoblastoma oio:hasExactSynonym PNET of the pineal gland PNET of the pineal gland PNET of the Pineal Gland NCIT:C9344 Pineoblastoma confirmed PNET of the pineal gland NCIT:C9344 NCIT MONDO:0016722 pineoblastoma oio:hasExactSynonym pineal PNET pineal PNET Pineal PNET NCIT:C9344 Pineoblastoma confirmed pineal PNET NCIT:C9344 NCIT @@ -53969,10 +52861,9 @@ MONDO:0016729 mixed neuronal-glial tumor oio:hasExactSynonym neuronal and mixed MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma NCIT:C3788 Ganglioglioma confirmed ganglioglioma NCIT:C3788 NCIT MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym papillary glioneuronal tumor (WHO grade I) papillary glioneuronal tumor (WHO grade I) Papillary Glioneuronal Tumor (WHO Grade I) NCIT:C92554 Papillary Glioneuronal Tumor confirmed papillary glioneuronal tumor (WHO grade I) NCIT:C92554 NCIT MONDO:0016735 papillary glioneuronal tumor oio:hasExactSynonym PGNT NCIT:C92554 Papillary Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PGNT NCIT:C92554 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor confirmed rosette-forming glioneuronal tumor NCIT:C129431 NCIT MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-Forming Glioneuronal Tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor confirmed rosette-forming glioneuronal tumor NCIT:C129431 NCIT +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor NCIT:C129431 Rosette-Forming Glioneuronal Tumor confirmed rosette-forming glioneuronal tumor NCIT:C129431 NCIT MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule oio:hasExactSynonym RGNT NCIT:C129431 Rosette-Forming Glioneuronal Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RGNT NCIT:C129431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor confirmed central nervous system yolk Sac tumor NCIT:C6209 NCIT MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym CNS yolk Sac tumor CNS yolk Sac tumor CNS Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed CNS yolk Sac tumor NCIT:C7011 NCIT MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed central nervous system yolk Sac tumor NCIT:C7011 NCIT MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of CNS yolk Sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed yolk Sac tumor of CNS NCIT:C7011 NCIT @@ -53980,13 +52871,9 @@ MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed yolk Sac tumor of the CNS NCIT:C7011 NCIT MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk Sac tumor of the central nervous system yolk Sac tumor of the central nervous system Yolk Sac Tumor of the Central Nervous System NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed yolk Sac tumor of the central nervous system NCIT:C7011 NCIT MONDO:0016739 yolk sac tumor of central nervous system oio:hasExactSynonym yolk sac tumor of CNS yolk sac tumor of CNS Yolk Sac Tumor of CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor confirmed yolk sac tumor of CNS NCIT:C7011 NCIT -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma confirmed central nervous system choriocarcinoma NCIT:C5793 NCIT -MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma confirmed central nervous system choriocarcinoma NCIT:C6206 NCIT MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma confirmed central nervous system choriocarcinoma NCIT:C7012 NCIT MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of CNS choriocarcinoma of CNS Choriocarcinoma of CNS NCIT:C7012 Central Nervous System Choriocarcinoma confirmed choriocarcinoma of CNS NCIT:C7012 NCIT MONDO:0016740 choriocarcinoma of the central nervous system oio:hasExactSynonym choriocarcinoma of the CNS choriocarcinoma of the CNS Choriocarcinoma of the CNS NCIT:C7012 Central Nervous System Choriocarcinoma confirmed choriocarcinoma of the CNS NCIT:C7012 NCIT -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor confirmed central nervous system mixed germ cell tumor NCIT:C27402 NCIT -MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor confirmed central nervous system mixed germ cell tumor NCIT:C27403 NCIT MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym CNS mixed germ cell tumor CNS mixed germ cell tumor CNS Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor confirmed CNS mixed germ cell tumor NCIT:C7016 NCIT MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym central nervous system mixed germ cell tumor central nervous system mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor confirmed central nervous system mixed germ cell tumor NCIT:C7016 NCIT MONDO:0016742 mixed germ cell tumor of central nervous system oio:hasExactSynonym mixed germ cell neoplasm of the central nervous system mixed germ cell neoplasm of the central nervous system Mixed Germ Cell Neoplasm of the Central Nervous System NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor confirmed mixed germ cell neoplasm of the central nervous system NCIT:C7016 NCIT @@ -54059,14 +52946,12 @@ MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma hemangiosarcoma MONDO:0016982 angiosarcoma oio:hasExactSynonym hemangiosarcoma, malignant hemangiosarcoma, malignant HEMANGIOSARCOMA, MALIGNANT NCIT:C3088 Angiosarcoma confirmed hemangiosarcoma, malignant NCIT:C3088 NCIT MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant angioendothelioma malignant angioendothelioma Malignant Angioendothelioma NCIT:C3088 Angiosarcoma confirmed malignant angioendothelioma NCIT:C3088 NCIT MONDO:0016982 angiosarcoma oio:hasExactSynonym malignant hemangioendothelioma malignant hemangioendothelioma Malignant Hemangioendothelioma NCIT:C3088 Angiosarcoma confirmed malignant hemangioendothelioma NCIT:C3088 NCIT -MONDO:0016982 angiosarcoma oio:hasExactSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma confirmed angiosarcoma NCIT:C9174 NCIT MONDO:0016984 nevus of Ota oio:hasExactSynonym Ota's Nevus NCIT:C7583 Nevus of Ota confirmed Ota's Nevus NCIT:C7583 NCIT MONDO:0016984 nevus of Ota oio:hasExactSynonym oculocutaneous melanocytic Nevus oculocutaneous melanocytic Nevus Oculocutaneous Melanocytic Nevus NCIT:C7583 Nevus of Ota confirmed oculocutaneous melanocytic Nevus NCIT:C7583 NCIT MONDO:0016984 nevus of Ota oio:hasExactSynonym oculodermal melanocytosis oculodermal melanocytosis Oculodermal Melanocytosis NCIT:C7583 Nevus of Ota confirmed oculodermal melanocytosis NCIT:C7583 NCIT MONDO:0016985 nevus of Ito oio:hasExactSynonym Ito's Nevus NCIT:C7582 Nevus of Ito confirmed Ito's Nevus NCIT:C7582 NCIT MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym childhood Langerhans cell histiocytosis childhood Langerhans cell histiocytosis Childhood Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis confirmed childhood Langerhans cell histiocytosis NCIT:C114483 NCIT MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym adult Langerhans cell histiocytosis adult Langerhans cell histiocytosis Adult Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis confirmed adult Langerhans cell histiocytosis NCIT:C114929 NCIT -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C3944 Congenital Melanocytic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMN NCIT:C3944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym congenital mesoblastic nephroma congenital mesoblastic nephroma Congenital Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma confirmed congenital mesoblastic nephroma NCIT:C6569 NCIT MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym stromal nephroma, malignant stromal nephroma, malignant STROMAL NEPHROMA, MALIGNANT NCIT:C6569 Congenital Mesoblastic Nephroma confirmed stromal nephroma, malignant NCIT:C6569 NCIT MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym CMN CMn CMN NCIT:C6569 Congenital Mesoblastic Nephroma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMN NCIT:C6569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -54074,8 +52959,8 @@ MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym Myxoma peritonei Myxom MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym gelatinous ascites gelatinous ascites Gelatinous Ascites NCIT:C3345 Pseudomyxoma Peritonei confirmed gelatinous ascites NCIT:C3345 NCIT MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym mucinous ascites mucinous ascites Mucinous Ascites NCIT:C3345 Pseudomyxoma Peritonei confirmed mucinous ascites NCIT:C3345 NCIT MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym peritoneal cavity pseudomyxoma peritonei peritoneal cavity pseudomyxoma peritonei Peritoneal Cavity Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei confirmed peritoneal cavity pseudomyxoma peritonei NCIT:C3345 NCIT -MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei confirmed pseudomyxoma peritonei NCIT:C3345 NCIT MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma peritonei NCIT:C3345 Pseudomyxoma Peritonei confirmed pseudomyxoma peritonei NCIT:C3345 NCIT +MONDO:0017048 pseudomyxoma peritonei oio:hasExactSynonym pseudomyxoma peritonei pseudomyxoma peritonei Pseudomyxoma Peritonei NCIT:C3345 Pseudomyxoma Peritonei confirmed pseudomyxoma peritonei NCIT:C3345 NCIT MONDO:0017050 intraocular medulloepithelioma oio:hasExactSynonym intraocular medulloepithelioma intraocular medulloepithelioma Intraocular Medulloepithelioma NCIT:C66806 Ciliary Body Medulloepithelioma confirmed intraocular medulloepithelioma NCIT:C66806 NCIT MONDO:0017069 spina bifida cystica oio:hasExactSynonym meningomyelocele meningomyelocele Meningomyelocele NCIT:C101201 Myelomeningocele confirmed meningomyelocele NCIT:C101201 NCIT MONDO:0017078 cephalocele oio:hasExactSynonym cranium bifidum cranium bifidum Cranium Bifidum NCIT:C84687 Encephalocele confirmed cranium bifidum NCIT:C84687 NCIT @@ -54087,7 +52972,6 @@ MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G syndrome Opitz G MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz G/BBB syndrome Opitz G/BBB syndrome Opitz G/BBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome confirmed Opitz G/BBB syndrome NCIT:C125487 NCIT MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym Opitz GBBB syndrome Opitz GBBB syndrome Opitz GBBB Syndrome NCIT:C125487 Opitz G/BBB Syndrome confirmed Opitz GBBB syndrome NCIT:C125487 NCIT MONDO:0017148 heritable pulmonary arterial hypertension oio:hasExactSynonym HPAH HpaH HPAH NCIT:C121945 Heritable Pulmonary Arterial Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HPAH NCIT:C121945 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 confirmed multiple endocrine adenomatosis NCIT:C3225 NCIT MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym men syndromes men syndromes MEN Syndromes NCIT:C6432 Multiple Endocrine Neoplasia confirmed men syndromes NCIT:C6432 NCIT MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia confirmed multiple endocrine adenomatosis NCIT:C6432 NCIT MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple Endocrine Neoplasia NCIT:C6432 Multiple Endocrine Neoplasia confirmed multiple endocrine neoplasia NCIT:C6432 NCIT @@ -54095,32 +52979,26 @@ MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocri MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia syndrome(s) multiple endocrine neoplasia syndrome(s) Multiple Endocrine Neoplasia Syndrome(s) NCIT:C6432 Multiple Endocrine Neoplasia confirmed multiple endocrine neoplasia syndrome(s) NCIT:C6432 NCIT MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym MEN NCIT:C6432 Multiple Endocrine Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MEN NCIT:C6432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis Dissecans NCIT:C34878 Osteochondritis Dissecans confirmed osteochondritis dissecans NCIT:C34878 NCIT -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism confirmed congenital hyperinsulinism NCIT:C131425 NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym hyperinsulinemia of infancy hyperinsulinemia of infancy Hyperinsulinemia of Infancy NCIT:C131425 Congenital Hyperinsulinism confirmed hyperinsulinemia of infancy NCIT:C131425 NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym neonatal hyperinsulinism neonatal hyperinsulinism Neonatal Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism confirmed neonatal hyperinsulinism NCIT:C131425 NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism confirmed nesidioblastosis NCIT:C131425 NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym HHI NCIT:C131425 Congenital Hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHI NCIT:C131425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis confirmed nesidioblastosis NCIT:C4375 NCIT MONDO:0017194 Blount disease oio:hasExactSynonym Blount disease Blount disease Blount Disease NCIT:C118460 Blount's Disease confirmed Blount disease NCIT:C118460 NCIT MONDO:0017194 Blount disease oio:hasExactSynonym Blount's disease Blount's disease Blount's Disease NCIT:C118460 Blount's Disease confirmed Blount's disease NCIT:C118460 NCIT -MONDO:0017198 osteopetrosis oio:hasExactSynonym Albers-Schonberg disease Albers-Schonberg disease Albers-Schonberg Disease NCIT:C129732 Autosomal Dominant Osteopetrosis confirmed Albers-Schonberg disease NCIT:C129732 NCIT -MONDO:0017198 osteopetrosis oio:hasExactSynonym marble bone disease marble bone disease Marble Bone Disease NCIT:C129732 Autosomal Dominant Osteopetrosis confirmed marble bone disease NCIT:C129732 NCIT MONDO:0017198 osteopetrosis oio:hasExactSynonym osteopetrosis osteopetrosis Osteopetrosis NCIT:C26840 Osteopetrosis confirmed osteopetrosis NCIT:C26840 NCIT MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym RPGN NCIT:C35264 Rapidly Progressive Glomerulonephritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RPGN NCIT:C35264 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis NCIT:C84989 Panuveitis confirmed panuveitis NCIT:C84989 NCIT MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome Autoimmune Polyendocrine Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome confirmed autoimmune polyendocrine syndrome NCIT:C129726 NCIT MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune Polyglandular Syndrome NCIT:C129726 Autoimmune Polyglandular Syndrome confirmed autoimmune polyglandular syndrome NCIT:C129726 NCIT MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome(s) autoimmune polyglandular syndrome(s) Autoimmune Polyglandular Syndrome(s) NCIT:C129726 Autoimmune Polyglandular Syndrome confirmed autoimmune polyglandular syndrome(s) NCIT:C129726 NCIT -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome NCIT:C61283 Antiphospholipid Syndrome confirmed Antiphospholipid Syndrome NCIT:C61283 NCIT MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune Polyendocrinopathy NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome confirmed autoimmune polyendocrinopathy NCIT:C84576 NCIT MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy syndrome autoimmune polyendocrinopathy syndrome Autoimmune Polyendocrinopathy Syndrome NCIT:C84576 Autoimmune Polyendocrinopathy Syndrome confirmed autoimmune polyendocrinopathy syndrome NCIT:C84576 NCIT MONDO:0017285 penoscrotal transposition oio:hasExactSynonym congenital penoscrotal transposition congenital penoscrotal transposition Congenital Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition confirmed congenital penoscrotal transposition NCIT:C99010 NCIT MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition confirmed penoscrotal transposition NCIT:C99010 NCIT MONDO:0017287 IgG4-related disease oio:hasExactSynonym IgG4-related sclerosing disease IgG4-related sclerosing disease IgG4-Related Sclerosing Disease NCIT:C95992 IgG4-Related Disease confirmed IgG4-related sclerosing disease NCIT:C95992 NCIT -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal lung adenocarcinoma fetal lung adenocarcinoma Fetal Lung Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal lung adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary adenocarcinoma of fetal type pulmonary adenocarcinoma of fetal type Pulmonary Adenocarcinoma of Fetal Type NCIT:C45509 Lung Fetal Adenocarcinoma confirmed pulmonary adenocarcinoma of fetal type NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary endodermal tumor resembling fetal lung pulmonary endodermal tumor resembling fetal lung Pulmonary Endodermal Tumor Resembling Fetal Lung NCIT:C45509 Lung Fetal Adenocarcinoma confirmed pulmonary endodermal tumor resembling fetal lung NCIT:C45509 NCIT @@ -54135,15 +53013,14 @@ MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym i MONDO:0017326 infective dermatitis associated with HTLV-1 oio:hasExactSynonym IDH NCIT:C129260 IDH Gene Family http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IDH NCIT:C129260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal angiofibroma nasopharyngeal angiofibroma Nasopharyngeal Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma confirmed nasopharyngeal angiofibroma NCIT:C27479 NCIT MONDO:0017340 juvenile nasopharyngeal angiofibroma oio:hasExactSynonym nasopharyngeal juvenile angiofibroma nasopharyngeal juvenile angiofibroma Nasopharyngeal Juvenile Angiofibroma NCIT:C27479 Sinonasal Tract Angiofibroma confirmed nasopharyngeal juvenile angiofibroma NCIT:C27479 NCIT -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 NCIT +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive diffuse large B-cell lymphoma of the elderly EBV Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed EBV Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive diffuse large B-cell lymphoma, NOS EBV-Positive Diffuse Large B-Cell Lymphoma, NOS NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed EBV-Positive diffuse large B-cell lymphoma, NOS NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-Associated B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed Senile EBV-associated B-cell lymphoproliferative disorder NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym age-related EBV Positive B-cell lymphoproliferative disorder age-related EBV Positive B-cell lymphoproliferative disorder Age-Related EBV Positive B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed age-related EBV Positive B-cell lymphoproliferative disorder NCIT:C80281 NCIT -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C4671 Breast Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PBL NCIT:C4671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT +MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C7224 Plasmablastic Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PBL NCIT:C7224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017349 myopericytoma oio:hasExactSynonym solitary myofibroma solitary myofibroma Solitary Myofibroma NCIT:C50401 Myopericytoma confirmed solitary myofibroma NCIT:C50401 NCIT MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella congenital rubella Congenital Rubella NCIT:C34992 Congenital Rubella confirmed congenital rubella NCIT:C34992 NCIT @@ -54161,25 +53038,20 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposi MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym malignant migrating Partial seizures in infancy malignant migrating Partial seizures in infancy Malignant Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy confirmed malignant migrating Partial seizures in infancy NCIT:C125387 NCIT MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym migrating Partial seizures in infancy migrating Partial seizures in infancy Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy confirmed migrating Partial seizures in infancy NCIT:C125387 NCIT MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym MMPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MMPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma, adult type pleomorphic rhabdomyosarcoma, adult type Pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma confirmed pleomorphic rhabdomyosarcoma, adult type NCIT:C27369 NCIT MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma confirmed pleomorphic rhabdomyosarcoma NCIT:C4258 NCIT -MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma confirmed pleomorphic rhabdomyosarcoma NCIT:C7959 NCIT -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid cell sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT +MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C4817 Ewing Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ES NCIT:C4817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C7944 NCIT -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C8095 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD syndrome ROHHAD syndrome ROHHAD Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation confirmed ROHHAD syndrome NCIT:C121944 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation confirmed Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation confirmed rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation NCIT:C121944 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation confirmed rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome NCIT:C121944 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ROHHAD NCIT:C121944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017409 fetal cytomegalovirus syndrome oio:hasExactSynonym congenital Cytomegaloviral infection congenital Cytomegaloviral infection Congenital Cytomegaloviral Infection NCIT:C122427 Congenital Cytomegaloviral Infection confirmed congenital Cytomegaloviral infection NCIT:C122427 NCIT -MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia PHOCOMELIA NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT +MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT MONDO:0017462 congenital pseudoarthrosis of the tibia oio:hasExactSynonym congenital pseudarthrosis of tibia congenital pseudarthrosis of tibia Congenital Pseudarthrosis of Tibia NCIT:C132080 Congenital Pseudarthrosis of Tibia confirmed congenital pseudarthrosis of tibia NCIT:C132080 NCIT MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym genu recurvatum genu recurvatum Genu Recurvatum NCIT:C103184 Genu Recurvatum confirmed genu recurvatum NCIT:C103184 NCIT MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym hyperextension deformity of knee hyperextension deformity of knee Hyperextension Deformity of Knee NCIT:C103184 Genu Recurvatum confirmed hyperextension deformity of knee NCIT:C103184 NCIT @@ -54234,7 +53106,6 @@ MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZBCL NCIT:C4341 Mar MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZL NCIT:C4341 Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MZL NCIT:C4341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia Caudal Dysplasia NCIT:C124505 Caudal Dysplasia confirmed caudal dysplasia NCIT:C124505 NCIT MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia CAUDAL DYSPLASIA NCIT:C124505 Caudal Dysplasia confirmed caudal dysplasia NCIT:C124505 NCIT -MONDO:0017607 caudal regression sequence oio:hasExactSynonym Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis confirmed Caudal Regression Syndrome NCIT:C99054 NCIT MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex NCIT:C84692 Epidermolysis Bullosa Simplex confirmed epidermolysis bullosa simplex NCIT:C84692 NCIT MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary neoplasm of pituitary Neoplasm of Pituitary NCIT:C3330 Pituitary Gland Neoplasm confirmed neoplasm of pituitary NCIT:C3330 NCIT MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary gland neoplasm of pituitary gland Neoplasm of Pituitary Gland NCIT:C3330 Pituitary Gland Neoplasm confirmed neoplasm of pituitary gland NCIT:C3330 NCIT @@ -54251,7 +53122,6 @@ MONDO:0017611 pituitary tumor oio:hasExactSynonym tumor of the pituitary gland MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional epidermolysis bullosa junctional epidermolysis bullosa Junctional Epidermolysis Bullosa NCIT:C90598 Junctional Epidermolysis Bullosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed junctional epidermolysis bullosa NCIT:C90598 NCIT MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome PTEN Hamartoma Tumor Syndrome NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed PTEN hamartoma tumor syndrome NCIT:C179915 NCIT MONDO:0017623 PTEN hamartoma tumor syndrome oio:hasExactSynonym PHTS NCIT:C179915 PTEN Hamartoma Tumor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHTS NCIT:C179915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C26808 Acute Renal Failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARF NCIT:C26808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017767 rheumatic fever oio:hasExactSynonym acute rheumatic fever acute rheumatic fever Acute Rheumatic Fever NCIT:C34984 Rheumatic Fever confirmed acute rheumatic fever NCIT:C34984 NCIT MONDO:0017767 rheumatic fever oio:hasExactSynonym ARF NCIT:C34984 Rheumatic Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARF NCIT:C34984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym MRKH syndrome MRKH syndrome MRKH Syndrome NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome confirmed MRKH syndrome NCIT:C124853 NCIT @@ -54272,8 +53142,6 @@ MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neuro MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym neurogenic sarcoma neurogenic sarcoma Neurogenic sarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor confirmed neurogenic sarcoma NCIT:C3798 NCIT MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym schwannoma, malignant schwannoma, malignant SCHWANNOMA, MALIGNANT NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor confirmed schwannoma, malignant NCIT:C3798 NCIT MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym MPNST NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPNST NCIT:C3798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor confirmed malignant peripheral nerve sheath tumor NCIT:C7814 NCIT -MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor confirmed malignant peripheral nerve sheath tumor NCIT:C8094 NCIT MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly cortical hyperostosis with syndactyly Cortical Hyperostosis with Syndactyly NCIT:C131133 Sclerosteosis confirmed cortical hyperostosis with syndactyly NCIT:C131133 NCIT MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN NCIT:C168588 Senior-Loken Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SLSN NCIT:C168588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym bronchopulmonary sequestration bronchopulmonary sequestration Bronchopulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration confirmed bronchopulmonary sequestration NCIT:C97124 NCIT @@ -54281,19 +53149,17 @@ MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym pulmonary sequestration pulmonary sequestration Pulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration confirmed pulmonary sequestration NCIT:C97124 NCIT MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym sequestered lobe (pulmonary sequestration) sequestered lobe (pulmonary sequestration) Sequestered Lobe (Pulmonary Sequestration) NCIT:C97124 Bronchopulmonary Sequestration confirmed sequestered lobe (pulmonary sequestration) NCIT:C97124 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease NCIT:C3366 Sezary Syndrome confirmed Sezary disease NCIT:C3366 NCIT -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome Sezary syndrome Sezary Syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT +MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease Sezary's disease Sezary's Disease NCIT:C3366 Sezary Syndrome confirmed Sezary's disease NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Sézary syndrome Sézary Syndrome NCIT:C3366 Sezary Syndrome confirmed Sézary syndrome NCIT:C3366 NCIT -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome NCIT:C35300 Sheehan Syndrome confirmed Sheehan Syndrome NCIT:C35300 NCIT MONDO:0017850 sirenomelia oio:hasExactSynonym symmelia symmelia Symmelia NCIT:C118455 Sirenomelia confirmed symmelia NCIT:C118455 NCIT MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia Variabilis NCIT:C84696 Erythrokeratodermia Variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed erythrokeratodermia variabilis NCIT:C84696 NCIT MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym allergic pneumonitis allergic pneumonitis Allergic Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis confirmed allergic pneumonitis NCIT:C34369 NCIT MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym extrinsic allergic alveolitis extrinsic allergic alveolitis Extrinsic Allergic Alveolitis NCIT:C34369 Extrinsic Allergic Alveolitis confirmed extrinsic allergic alveolitis NCIT:C34369 NCIT MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym hypersensitivity pneumonitis hypersensitivity pneumonitis Hypersensitivity Pneumonitis NCIT:C34369 Extrinsic Allergic Alveolitis confirmed hypersensitivity pneumonitis NCIT:C34369 NCIT -MONDO:0017853 hypersensitivity pneumonitis oio:hasExactSynonym HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia confirmed FAB M6 NCIT:C8923 NCIT MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 NCIT:C8923 Acute Erythroid Leukemia confirmed FAB M6 NCIT:C8923 NCIT +MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym FAB M6 FAB M6 Fab M6 NCIT:C8923 Acute Erythroid Leukemia confirmed FAB M6 NCIT:C8923 NCIT MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym M6 acute myeloid leukemia M6 acute myeloid leukemia M6 Acute Myeloid Leukemia NCIT:C8923 Acute Erythroid Leukemia confirmed M6 acute myeloid leukemia NCIT:C8923 NCIT MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroblastic leukemia acute erythroblastic leukemia Acute Erythroblastic Leukemia NCIT:C8923 Acute Erythroid Leukemia confirmed acute erythroblastic leukemia NCIT:C8923 NCIT MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym acute erythroid leukemia acute erythroid leukemia Acute Erythroid Leukemia NCIT:C8923 Acute Erythroid Leukemia confirmed acute erythroid leukemia NCIT:C8923 NCIT @@ -54306,8 +53172,8 @@ MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil car MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil renal cell carcinoma chromophil renal cell carcinoma Chromophil Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma confirmed chromophil renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary (chromophil) renal cell carcinoma papillary (chromophil) renal cell carcinoma Papillary (Chromophil) Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma confirmed papillary (chromophil) renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell cancer papillary renal cell cancer Papillary Renal Cell Cancer NCIT:C6975 Papillary Renal Cell Carcinoma confirmed papillary renal cell cancer NCIT:C6975 NCIT -MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT +MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe Adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe adenocarcinoma NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe adenocarcinoma NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe carcinoma chromophobe carcinoma Chromophobe carcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe carcinoma NCIT:C4146 NCIT @@ -54335,7 +53201,6 @@ MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym 5 MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione Synthetase Deficiency NCIT:C128193 Glutathione Synthetase Deficiency confirmed glutathione synthetase deficiency NCIT:C128193 NCIT MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic Aciduria NCIT:C128193 Glutathione Synthetase Deficiency confirmed pyroglutamic aciduria NCIT:C128193 NCIT MONDO:0017909 inherited glutathione synthetase deficiency oio:hasExactSynonym GSSD NCIT:C128193 Glutathione Synthetase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GSSD NCIT:C128193 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC NCIT:C6287 Endometrial Endometrioid Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EEC NCIT:C6287 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex OEIS Complex NCIT:C99142 OEIS Complex confirmed OEIS complex NCIT:C99142 NCIT MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS syndrome OEIS syndrome OEIS Syndrome NCIT:C99142 OEIS Complex confirmed OEIS syndrome NCIT:C99142 NCIT MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome Canale-Smith syndrome Canale-Smith Syndrome NCIT:C37864 Autoimmune Lymphoproliferative Syndrome confirmed Canale-Smith syndrome NCIT:C37864 NCIT @@ -54351,7 +53216,6 @@ MONDO:0018017 goblet cell carcinoma oio:hasExactSynonym appendix mixed carcinoi MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym fetal thalidomide syndrome fetal thalidomide syndrome Fetal Thalidomide Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome confirmed fetal thalidomide syndrome NCIT:C99082 NCIT MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide embryopathy syndrome thalidomide embryopathy syndrome Thalidomide Embryopathy Syndrome NCIT:C99082 Thalidomide Embryopathy Syndrome confirmed thalidomide embryopathy syndrome NCIT:C99082 NCIT MONDO:0018034 thalidomide embryopathy oio:hasExactSynonym thalidomide-induced birth defect thalidomide-induced birth defect Thalidomide-Induced Birth Defect NCIT:C99082 Thalidomide Embryopathy Syndrome confirmed thalidomide-induced birth defect NCIT:C99082 NCIT -MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency confirmed hyper-IgE recurrent infection syndrome NCIT:C126342 NCIT MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyperimmunoglobulin E syndrome hyperimmunoglobulin E syndrome Hyperimmunoglobulin E Syndrome NCIT:C3144 Hyperimmunoglobulin E Syndrome confirmed hyperimmunoglobulin E syndrome NCIT:C3144 NCIT MONDO:0018044 idiopathic hypersomnia oio:hasExactSynonym primary hypersomnia primary hypersomnia Primary Hypersomnia NCIT:C116343 Idiopathic Hypersomnia confirmed primary hypersomnia NCIT:C116343 NCIT MONDO:0018053 trichothiodystrophy oio:hasExactSynonym trichothiodystrophy syndrome trichothiodystrophy syndrome Trichothiodystrophy Syndrome NCIT:C4924 Trichothiodystrophy confirmed trichothiodystrophy syndrome NCIT:C4924 NCIT @@ -54374,8 +53238,8 @@ MONDO:0018075 neural tube defect oio:hasExactSynonym NTD NCIT:C84923 Neural T MONDO:0018076 tuberculosis oio:hasExactSynonym tuberculosis disease tuberculosis disease Tuberculosis Disease NCIT:C3423 Tuberculosis confirmed tuberculosis disease NCIT:C3423 NCIT MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of soft tissue sarcoma of soft tissue Sarcoma of Soft Tissue NCIT:C9306 Soft Tissue Sarcoma confirmed sarcoma of soft tissue NCIT:C9306 NCIT MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym sarcoma of the soft tissue sarcoma of the soft tissue Sarcoma of the Soft Tissue NCIT:C9306 Soft Tissue Sarcoma confirmed sarcoma of the soft tissue NCIT:C9306 NCIT -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma confirmed soft tissue sarcoma NCIT:C9306 NCIT MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft tissue sarcoma NCIT:C9306 Soft Tissue Sarcoma confirmed soft tissue sarcoma NCIT:C9306 NCIT +MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym soft tissue sarcoma soft tissue sarcoma Soft Tissue Sarcoma NCIT:C9306 Soft Tissue Sarcoma confirmed soft tissue sarcoma NCIT:C9306 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial neoplasm Thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm confirmed Thymus epithelial neoplasm NCIT:C6450 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym Thymus epithelial tumor Thymus epithelial tumor Thymus Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm confirmed Thymus epithelial tumor NCIT:C6450 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial neoplasm of Thymus epithelial neoplasm of Thymus Epithelial Neoplasm of Thymus NCIT:C6450 Thymic Epithelial Neoplasm confirmed epithelial neoplasm of Thymus NCIT:C6450 NCIT @@ -54385,10 +53249,9 @@ MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym epithelial tumor o MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelial tumor thymic epithelial tumor Thymic Epithelial Tumor NCIT:C6450 Thymic Epithelial Neoplasm confirmed thymic epithelial tumor NCIT:C6450 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelium neoplasm thymic epithelium neoplasm Thymic Epithelium Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm confirmed thymic epithelium neoplasm NCIT:C6450 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymus epithelial neoplasm thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm confirmed thymus epithelial neoplasm NCIT:C6450 NCIT -MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym TEN NCIT:C79777 Toxic Epidermal Necrolysis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TEN NCIT:C79777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF NCIT:C84707 Familial Mediterranean Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FMF NCIT:C84707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle Double Outlet Right Ventricle NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT +MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym uveomeningoencephalitic syndrome uveomeningoencephalitic syndrome Uveomeningoencephalitic Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome confirmed uveomeningoencephalitic syndrome NCIT:C85218 NCIT MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg's syndrome Waardenburg's syndrome Waardenburg's Syndrome NCIT:C85222 Waardenburg Syndrome confirmed Waardenburg's syndrome NCIT:C85222 NCIT MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome Waardenburg syndrome Waardenburg Syndrome NCIT:C85222 Waardenburg Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Waardenburg syndrome NCIT:C85222 NCIT @@ -54426,10 +53289,9 @@ MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma multiforme glioblas MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma multiforme NCIT:C3058 Glioblastoma confirmed spongioblastoma multiforme NCIT:C3058 NCIT MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma Multiforme NCIT:C3058 Glioblastoma confirmed spongioblastoma multiforme NCIT:C3058 NCIT MONDO:0018177 glioblastoma oio:hasExactSynonym GBM NCIT:C3058 Glioblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GBM NCIT:C3058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018177 glioblastoma oio:hasExactSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma confirmed glioblastoma NCIT:C9094 NCIT MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal Scalded Skin Syndrome NCIT:C85077 Staphylococcal Scalded Skin Syndrome confirmed staphylococcal scalded skin syndrome NCIT:C85077 NCIT -MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis Plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT +MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of testis teratoma of testis Teratoma of Testis NCIT:C3877 Testicular Teratoma confirmed teratoma of testis NCIT:C3877 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of the testis teratoma of the testis Teratoma of the Testis NCIT:C3877 Testicular Teratoma confirmed teratoma of the testis NCIT:C3877 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym testicular teratoma testicular teratoma Testicular Teratoma NCIT:C3877 Testicular Teratoma confirmed testicular teratoma NCIT:C3877 NCIT @@ -54457,7 +53319,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym diffuse la MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-DLBCL NCIT:C7225 ALK-Positive Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALK-DLBCL NCIT:C7225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym Stevens Johnson syndrome Stevens Johnson syndrome Stevens Johnson Syndrome NCIT:C79484 Stevens-Johnson Syndrome confirmed Stevens Johnson syndrome NCIT:C79484 NCIT MONDO:0018234 dysostosis oio:hasExactSynonym dysostosis dysostosis Dysostosis NCIT:C34560 Dysostosis confirmed dysostosis NCIT:C34560 NCIT -MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym EOE EOE EoE NCIT:C27105 Eosinophilic Esophagitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EOE NCIT:C27105 NCIT MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym Extra-osseous Ewing's sarcoma Extra-osseous Ewing's sarcoma Extra-Osseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma confirmed Extra-osseous Ewing's sarcoma NCIT:C7135 NCIT MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing sarcoma extraosseous Ewing sarcoma Extraosseous Ewing Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma confirmed extraosseous Ewing sarcoma NCIT:C7135 NCIT MONDO:0018270 extraskeletal Ewing sarcoma oio:hasExactSynonym extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma Extraosseous Ewing's Sarcoma NCIT:C7135 Extraskeletal Ewing Sarcoma confirmed extraosseous Ewing's sarcoma NCIT:C7135 NCIT @@ -54485,8 +53346,6 @@ MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym mesenchymal hamar MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease Hirschsprung Disease NCIT:C34700 Hirschsprung Disease confirmed Hirschsprung disease NCIT:C34700 NCIT MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung's disease Hirschsprung's disease Hirschsprung's Disease NCIT:C34700 Hirschsprung Disease confirmed Hirschsprung's disease NCIT:C34700 NCIT MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic Megacolon NCIT:C34700 Hirschsprung Disease confirmed aganglionic megacolon NCIT:C34700 NCIT -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis confirmed Langerhans cell histiocytosis NCIT:C114483 NCIT -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis confirmed Langerhans cell histiocytosis NCIT:C114929 NCIT MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis confirmed Langerhans cell granulomatosis NCIT:C3107 NCIT MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Langerhans cell granulomatosis Langerhans Cell Granulomatosis NCIT:C3107 Langerhans Cell Histiocytosis confirmed Langerhans cell granulomatosis NCIT:C3107 NCIT MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis confirmed Langerhans cell histiocytosis NCIT:C3107 NCIT @@ -54509,7 +53368,6 @@ MONDO:0018352 squamous cell carcinoma of penis oio:hasExactSynonym squamous cel MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian epithelial tumor malignant ovarian epithelial tumor Malignant Ovarian Epithelial Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor confirmed malignant ovarian epithelial tumor NCIT:C40026 NCIT MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal neoplasm Malignant Ovarian Surface Epithelial-Stromal Neoplasm NCIT:C40026 Malignant Ovarian Epithelial Tumor confirmed malignant ovarian surface epithelial-stromal neoplasm NCIT:C40026 NCIT MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal tumor malignant ovarian surface epithelial-stromal tumor Malignant Ovarian Surface Epithelial-Stromal Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor confirmed malignant ovarian surface epithelial-stromal tumor NCIT:C40026 NCIT -MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma confirmed ovarian epithelial cancer NCIT:C4908 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary peritoneal serous papillary adenocarcinoma NCIT:C7695 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary carcinoma primary peritoneal serous papillary carcinoma Primary Peritoneal Serous Papillary Carcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary peritoneal serous papillary carcinoma NCIT:C7695 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary Serous Papillary Carcinoma of Peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary serous papillary carcinoma of peritoneum NCIT:C7695 NCIT @@ -54528,10 +53386,8 @@ MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym osteonecrosis of jaw MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym ONJ NCIT:C63924 Osteonecrosis of Jaw http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ONJ NCIT:C63924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma NCIT:C3830 Chondromyxoid Fibroma confirmed Chondromyxoid fibroma NCIT:C3830 NCIT MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma Chondromyxoid fibroma Chondromyxoid Fibroma NCIT:C3830 Chondromyxoid Fibroma confirmed Chondromyxoid fibroma NCIT:C3830 NCIT -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome confirmed familial atypical multiple mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 NCIT MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym FAMM syndrome FAMM syndrome FAMM Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome confirmed FAMM syndrome NCIT:C27264 NCIT MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical mole melanoma syndrome familial atypical mole melanoma syndrome Familial Atypical Mole Melanoma Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome confirmed familial atypical mole melanoma syndrome NCIT:C27264 NCIT -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym B-K mole syndrome B-K mole syndrome B-K Mole Syndrome NCIT:C7584 Dysplastic Nevus Syndrome confirmed B-K mole syndrome NCIT:C7584 NCIT MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia familial benign hypercalcemia Familial Benign Hypercalcemia NCIT:C123262 Familial Hypocalciuric Hypercalcemia confirmed familial benign hypercalcemia NCIT:C123262 NCIT MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis renal agenesis Renal Agenesis NCIT:C99041 Renal Agenesis confirmed renal agenesis NCIT:C99041 NCIT MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin Encephalopathy NCIT:C84799 Kernicterus confirmed bilirubin encephalopathy NCIT:C84799 NCIT @@ -54581,7 +53437,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym pancreatic mu MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym pancreatic solid pseudopapillary carcinoma pancreatic solid pseudopapillary carcinoma Pancreatic Solid Pseudopapillary Carcinoma NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas confirmed pancreatic solid pseudopapillary carcinoma NCIT:C5728 NCIT MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of pancreas solid pseudopapillary carcinoma of pancreas Solid Pseudopapillary Carcinoma of Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas confirmed solid pseudopapillary carcinoma of pancreas NCIT:C5728 NCIT MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym solid pseudopapillary carcinoma of the pancreas solid pseudopapillary carcinoma of the pancreas Solid Pseudopapillary Carcinoma of the Pancreas NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas confirmed solid pseudopapillary carcinoma of the pancreas NCIT:C5728 NCIT -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed liver and intrahepatic biliary tract carcinoma NCIT:C3828 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma confirmed liver and intrahepatic bile duct carcinoma NCIT:C7927 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract cancer liver and intrahepatic biliary tract cancer Liver and Intrahepatic Biliary Tract Cancer NCIT:C7927 Liver Carcinoma confirmed liver and intrahepatic biliary tract cancer NCIT:C7927 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma confirmed liver and intrahepatic biliary tract carcinoma NCIT:C7927 NCIT @@ -54593,7 +53448,6 @@ MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym central hypogonadism central hypogonadism Central Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism confirmed central hypogonadism NCIT:C113347 NCIT MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism confirmed hypogonadotropic hypogonadism NCIT:C113347 NCIT MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym secondary hypogonadism secondary hypogonadism Secondary Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism confirmed secondary hypogonadism NCIT:C113347 NCIT -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome confirmed hypogonadotropic hypogonadism NCIT:C34752 NCIT MONDO:0018556 Lambert-Eaton myasthenic syndrome oio:hasExactSynonym Lambert Eaton myasthenic syndrome Lambert Eaton myasthenic syndrome Lambert Eaton Myasthenic Syndrome NCIT:C3155 Lambert Eaton Myasthenic Syndrome confirmed Lambert Eaton myasthenic syndrome NCIT:C3155 NCIT MONDO:0018592 cutaneous polyarteritis nodosa oio:hasExactSynonym cutaneous PAN cutaneous PAN Cutaneous PAN NCIT:C117295 Cutaneous Polyarteritis Nodosa confirmed cutaneous PAN NCIT:C117295 NCIT MONDO:0018604 familial colorectal cancer type X oio:hasExactSynonym familial colorectal cancer type X familial colorectal cancer type X Familial Colorectal Cancer Type X NCIT:C120084 Hereditary Colorectal Cancer Type X confirmed familial colorectal cancer type X NCIT:C120084 NCIT @@ -54623,15 +53477,14 @@ MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym Kutt MONDO:0018674 IgG4-related submandibular gland disease oio:hasExactSynonym chronic sclerosing sialadenitis chronic sclerosing sialadenitis Chronic Sclerosing Sialadenitis NCIT:C82887 Chronic Sclerosing Sialadenitis confirmed chronic sclerosing sialadenitis NCIT:C82887 NCIT MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxia syndrome heterotaxia syndrome Heterotaxia Syndrome NCIT:C117273 Heterotaxy Syndrome confirmed heterotaxia syndrome NCIT:C117273 NCIT MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy syndrome heterotaxy syndrome Heterotaxy Syndrome NCIT:C117273 Heterotaxy Syndrome confirmed heterotaxy syndrome NCIT:C117273 NCIT -MONDO:0018677 visceral heterotaxy oio:hasExactSynonym situs ambiguus situs ambiguus Situs Ambiguus NCIT:C87121 Situs Inversus confirmed situs ambiguus NCIT:C87121 NCIT MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphadenosis Benigna cutis lymphadenosis Benigna cutis Lymphadenosis Benigna Cutis NCIT:C62776 Cutaneous Pseudolymphoma confirmed lymphadenosis Benigna cutis NCIT:C62776 NCIT MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym lymphocytoma cutis lymphocytoma cutis Lymphocytoma Cutis NCIT:C62776 Cutaneous Pseudolymphoma confirmed lymphocytoma cutis NCIT:C62776 NCIT MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym pseudolymphoma of Spiegler pseudolymphoma of Spiegler Pseudolymphoma of Spiegler NCIT:C62776 Cutaneous Pseudolymphoma confirmed pseudolymphoma of Spiegler NCIT:C62776 NCIT MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired Ichthyosis NCIT:C112831 Ichthyosis Acquisita confirmed acquired ichthyosis NCIT:C112831 NCIT MONDO:0018683 acquired ichthyosis oio:hasExactSynonym ichthyosis acquisita ichthyosis acquisita Ichthyosis Acquisita NCIT:C112831 Ichthyosis Acquisita confirmed ichthyosis acquisita NCIT:C112831 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym leukemia plasmacytic leukemia plasmacytic Leukemia Plasmacytic NCIT:C3180 Plasma Cell Leukemia confirmed leukemia plasmacytic NCIT:C3180 NCIT -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma cell leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT +MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasmacytic leukemia NCIT:C3180 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasmacytic leukemia NCIT:C3180 NCIT MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome NCIT:C34357 Holmes-Adie Syndrome confirmed Adie Syndrome NCIT:C34357 NCIT @@ -54644,8 +53497,8 @@ MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym tracheoes MONDO:0018712 composite hemangioendothelioma oio:hasExactSynonym composite hemangioendothelioma composite hemangioendothelioma Composite Hemangioendothelioma NCIT:C45475 Composite Hemangioendothelioma confirmed composite hemangioendothelioma NCIT:C45475 NCIT MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym hobnail hemangioendothelioma hobnail hemangioendothelioma Hobnail Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma confirmed hobnail hemangioendothelioma NCIT:C27511 NCIT MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym retiform hemangioendothelioma retiform hemangioendothelioma Retiform Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma confirmed retiform hemangioendothelioma NCIT:C27511 NCIT -MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT +MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym malignant endothelial papillary angioendothelioma malignant endothelial papillary angioendothelioma Malignant Endothelial Papillary Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed malignant endothelial papillary angioendothelioma NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary Endovascular angioendothelioma papillary Endovascular angioendothelioma Papillary Endovascular Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed papillary Endovascular angioendothelioma NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary intralymphatic angioendothelioma papillary intralymphatic angioendothelioma Papillary Intralymphatic Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed papillary intralymphatic angioendothelioma NCIT:C7526 NCIT @@ -54681,10 +53534,9 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly NCIT:C103921 Lissencephaly confirmed lissencephaly NCIT:C103921 NCIT MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis confirmed Congenital Hepatic Fibrosis NCIT:C97071 NCIT MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym congenital hepatic fibrosis congenital hepatic fibrosis Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis confirmed congenital hepatic fibrosis NCIT:C97071 NCIT -MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary effusion lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT +MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym PEL NCIT:C6915 Primary Effusion Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PEL NCIT:C6915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma confirmed central nervous system embryonal carcinoma NCIT:C5790 NCIT MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed central nervous system embryonal carcinoma NCIT:C7010 NCIT MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal Carcinoma of CNS NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of CNS NCIT:C7010 NCIT MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of the central nervous system embryonal carcinoma of the central nervous system Embryonal Carcinoma of the Central Nervous System NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of the central nervous system NCIT:C7010 NCIT @@ -54695,17 +53547,17 @@ MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym Retrope MONDO:0018848 IgG4-related retroperitoneal fibrosis oio:hasExactSynonym retroperitoneal fibrosis retroperitoneal fibrosis Retroperitoneal Fibrosis NCIT:C26876 Retroperitoneal Fibrosis confirmed retroperitoneal fibrosis NCIT:C26876 NCIT MONDO:0018849 dentinogenesis imperfecta oio:hasExactSynonym dentinogenesis imperfecta dentinogenesis imperfecta Dentinogenesis Imperfecta NCIT:C84667 Dentinogenesis Imperfecta http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed dentinogenesis imperfecta NCIT:C84667 NCIT MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar cyst Pilar cyst Pilar Cyst NCIT:C27125 Proliferating Trichilemmal Tumor confirmed Pilar cyst NCIT:C27125 NCIT -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed Pilar tumor NCIT:C27125 NCIT MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor Pilar tumor Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed Pilar tumor NCIT:C27125 NCIT +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym Pilar tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed Pilar tumor NCIT:C27125 NCIT MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Pilar tumor proliferating Pilar tumor Proliferating Pilar Tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed proliferating Pilar tumor NCIT:C27125 NCIT MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating Tricholemmal tumor proliferating Tricholemmal tumor Proliferating Tricholemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed proliferating Tricholemmal tumor NCIT:C27125 NCIT -MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed proliferating trichilemmal tumor NCIT:C27125 NCIT MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating trichilemmal tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed proliferating trichilemmal tumor NCIT:C27125 NCIT +MONDO:0018850 proliferating trichilemmal cyst oio:hasExactSynonym proliferating trichilemmal tumor proliferating trichilemmal tumor Proliferating Trichilemmal Tumor NCIT:C27125 Proliferating Trichilemmal Tumor confirmed proliferating trichilemmal tumor NCIT:C27125 NCIT MONDO:0018852 achromatopsia oio:hasExactSynonym achromatopsia achromatopsia Achromatopsia NCIT:C84528 Achromatopsia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed achromatopsia NCIT:C84528 NCIT MONDO:0018864 Kikuchi-Fujimoto disease oio:hasExactSynonym histiocytic necrotizing lymphadenitis histiocytic necrotizing lymphadenitis Histiocytic Necrotizing Lymphadenitis NCIT:C71719 Kikuchi-Fujimoto Disease confirmed histiocytic necrotizing lymphadenitis NCIT:C71719 NCIT MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute M4 myeloid leukemia acute M4 myeloid leukemia Acute M4 Myeloid Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia confirmed acute M4 myeloid leukemia NCIT:C7463 NCIT -MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia confirmed acute myelomonocytic leukemia NCIT:C7463 NCIT MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia NCIT:C7463 Acute Myelomonocytic Leukemia confirmed acute myelomonocytic leukemia NCIT:C7463 NCIT +MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute Myelomonocytic Leukemia NCIT:C7463 Acute Myelomonocytic Leukemia confirmed acute myelomonocytic leukemia NCIT:C7463 NCIT MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym acute myelomonocytic leukemia (FAB type M4) acute myelomonocytic leukemia (FAB type M4) Acute Myelomonocytic Leukemia (FAB Type M4) NCIT:C7463 Acute Myelomonocytic Leukemia confirmed acute myelomonocytic leukemia (FAB type M4) NCIT:C7463 NCIT MONDO:0018871 acute myelomonocytic leukemia M4 oio:hasExactSynonym AMML NCIT:C7463 Acute Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMML NCIT:C7463 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym FAB M7 FAB M7 Fab M7 NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed FAB M7 NCIT:C3170 NCIT @@ -54723,10 +53575,10 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leu MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leukemia acute granulocytic leukemia Acute Granulocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute granulocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute myeloblastic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloblastic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute Myeloblastic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloblastic leukemia NCIT:C3171 NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute Myelocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute myelogenous leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemias acute myelogenous leukemias Acute Myelogenous Leukemias NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemias NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloid leukemia (AML) NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloid leukemia (AML) NCIT:C3171 NCIT @@ -54735,7 +53587,6 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym hematopoeitic - acute MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed acute myeloid leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AML NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym ANLL NCIT:C3171 Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ANLL NCIT:C3171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia confirmed acute myeloid leukemia (AML) NCIT:C9160 NCIT MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni Familial Cancer Susceptibility Syndrome NCIT:C3476 Li-Fraumeni Syndrome confirmed Li-Fraumeni familial cancer susceptibility syndrome NCIT:C3476 NCIT MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome NCIT:C3476 Li-Fraumeni Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Li-Fraumeni syndrome NCIT:C3476 NCIT MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym classical mantle cell lymphoma classical mantle cell lymphoma Classical Mantle Cell Lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed classical mantle cell lymphoma NCIT:C4337 NCIT @@ -54754,7 +53605,6 @@ MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym oligoblastic leukemi MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym preleukemia preleukemia Preleukemia NCIT:C3247 Myelodysplastic Syndrome confirmed preleukemia NCIT:C3247 NCIT MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym smoldering leukemia smoldering leukemia Smoldering Leukemia NCIT:C3247 Myelodysplastic Syndrome confirmed smoldering leukemia NCIT:C3247 NCIT MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS NCIT:C3247 Myelodysplastic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS NCIT:C3247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome confirmed myelodysplastic syndrome NCIT:C68744 NCIT MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli Seip syndrome Berardinelli Seip syndrome Berardinelli Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy confirmed Berardinelli Seip syndrome NCIT:C84594 NCIT MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Berardinelli lipodystrophy syndrome Berardinelli lipodystrophy syndrome Berardinelli Lipodystrophy Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy confirmed Berardinelli lipodystrophy syndrome NCIT:C84594 NCIT MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym Seip-Bernardinelli syndrome Seip-Bernardinelli syndrome Seip-Bernardinelli Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy confirmed Seip-Bernardinelli syndrome NCIT:C84594 NCIT @@ -54801,20 +53651,16 @@ MONDO:0018908 non-Hodgkin lymphoma oio:hasExactSynonym NHL NCIT:C3211 Non-Hod MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young confirmed maturity onset diabetes of the young NCIT:C114769 NCIT MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed maturity-onset diabetes of the young NCIT:C114769 NCIT MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C114769 Maturity-Onset Diabetes of the Young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MODY NCIT:C114769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity onset diabetes of the young maturity onset diabetes of the young Maturity Onset Diabetes of the Young NCIT:C129739 Monogenic Diabetes confirmed maturity onset diabetes of the young NCIT:C129739 NCIT -MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY NCIT:C129739 Monogenic Diabetes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MODY NCIT:C129739 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome Cushing syndrome Cushing Syndrome NCIT:C2969 Cushing Syndrome confirmed Cushing syndrome NCIT:C2969 NCIT MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing's syndrome Cushing's syndrome Cushing's Syndrome NCIT:C2969 Cushing Syndrome confirmed Cushing's syndrome NCIT:C2969 NCIT MONDO:0018912 Cushing syndrome oio:hasExactSynonym cortisol Excess cortisol Excess Cortisol Excess NCIT:C2969 Cushing Syndrome confirmed cortisol Excess NCIT:C2969 NCIT -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C114471 Macrophage Activation Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C114471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome confirmed McCune Albright Syndrome NCIT:C48627 NCIT MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright syndrome McCune Albright syndrome McCune Albright Syndrome NCIT:C48627 McCune-Albright Syndrome confirmed McCune Albright syndrome NCIT:C48627 NCIT MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym peripartum cardiomyopathy peripartum cardiomyopathy Peripartum Cardiomyopathy NCIT:C171602 Peripartum Cardiomyopathy confirmed peripartum cardiomyopathy NCIT:C171602 NCIT MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome NCIT:C98978 Meckel-Gruber Syndrome confirmed Meckel-Gruber syndrome NCIT:C98978 NCIT -MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy Cell Leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT +MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia confirmed leukemic reticuloendotheliosis NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic Reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia confirmed leukemic reticuloendotheliosis NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym HCL NCIT:C7402 Hairy Cell Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCL NCIT:C7402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -54847,8 +53693,8 @@ MONDO:0018963 hereditary methemoglobinemia oio:hasExactSynonym congenital methe MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport's syndrome Alport's syndrome Alport's Syndrome NCIT:C34842 Alport Syndrome confirmed Alport's syndrome NCIT:C34842 NCIT MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome Alport syndrome Alport Syndrome NCIT:C34842 Alport Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Alport syndrome NCIT:C34842 NCIT MONDO:0018969 craniorachischisis oio:hasExactSynonym cranial rachischisis cranial rachischisis Cranial Rachischisis NCIT:C98907 Craniorachischisis confirmed cranial rachischisis NCIT:C98907 NCIT -MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis CRANIORACHISCHISIS NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT +MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 confirmed Neurofibromatosis 1 NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis 1 neurofibromatosis 1 Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 confirmed neurofibromatosis 1 NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym peripheral neurofibromatosis peripheral neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 confirmed peripheral neurofibromatosis NCIT:C3273 NCIT @@ -54870,8 +53716,6 @@ MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic cerebella MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma confirmed dysplastic gangliocytoma of cerebellum NCIT:C8419 NCIT MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic Gangliocytoma of the Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma confirmed dysplastic gangliocytoma of the cerebellum NCIT:C8419 NCIT MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple Endocrine Neoplasia Type 2 NCIT:C123329 Multiple Endocrine Neoplasia Type 2 confirmed multiple endocrine neoplasia type 2 NCIT:C123329 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' Tumor NCIT:C3267 Wilms Tumor confirmed Wilms' Tumor NCIT:C3267 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym nephroblastoma nephroblastoma Nephroblastoma NCIT:C3267 Wilms Tumor confirmed nephroblastoma NCIT:C3267 NCIT MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms tumor of the kidney Wilms tumor of the kidney Wilms Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor confirmed Wilms tumor of the kidney NCIT:C40407 NCIT MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym Wilms' tumor of the kidney Wilms' tumor of the kidney Wilms' Tumor of the Kidney NCIT:C40407 Kidney Wilms Tumor confirmed Wilms' tumor of the kidney NCIT:C40407 NCIT MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor confirmed kidney Wilms tumor NCIT:C40407 NCIT @@ -54882,28 +53726,26 @@ MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym renal Wilms' tumor renal W MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis NCIT:C123200 Nephronophthisis confirmed nephronophthisis NCIT:C123200 NCIT MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy persistent hyperinsulinemic hypoglycemia of infancy Persistent Hyperinsulinemic Hypoglycemia of Infancy NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy confirmed persistent hyperinsulinemic hypoglycemia of infancy NCIT:C122923 NCIT MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym PHHI NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHHI NCIT:C122923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism confirmed Congenital Hyperinsulinism NCIT:C131425 NCIT MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter 's syndrome Carpenter 's syndrome Carpenter 's Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly confirmed Carpenter 's syndrome NCIT:C98873 NCIT MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome Carpenter Syndrome NCIT:C98873 Type II Acrocephalopolysyndactyly confirmed Carpenter syndrome NCIT:C98873 NCIT MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type II acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II NCIT:C98873 Type II Acrocephalopolysyndactyly confirmed acrocephalopolysyndactyly type II NCIT:C98873 NCIT MONDO:0019012 Carpenter syndrome oio:hasExactSynonym type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly NCIT:C98873 Type II Acrocephalopolysyndactyly confirmed type II Acrocephalopolysyndactyly NCIT:C98873 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym congenital omphalocele congenital omphalocele Congenital Omphalocele NCIT:C98997 Omphalocele confirmed congenital omphalocele NCIT:C98997 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos NCIT:C98997 Omphalocele confirmed exomphalos NCIT:C98997 NCIT -MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele Omphalocele NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT +MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo Cardiomyopathy NCIT:C85181 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo cardiomyopathy Takotsubo cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo cardiomyopathy NCIT:C85181 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo syndrome Takotsubo syndrome Takotsubo Syndrome NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo syndrome NCIT:C85181 NCIT -MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous (skin) mastocytosis cutaneous (skin) mastocytosis Cutaneous (Skin) Mastocytosis NCIT:C7137 Cutaneous Mastocytosis confirmed cutaneous (skin) mastocytosis NCIT:C7137 NCIT MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous Mastocytosis NCIT:C7137 Cutaneous Mastocytosis confirmed cutaneous mastocytosis NCIT:C7137 NCIT MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym cutaneous mastocytosis cutaneous mastocytosis Cutaneous mastocytosis NCIT:C7137 Cutaneous Mastocytosis confirmed cutaneous mastocytosis NCIT:C7137 NCIT MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma confirmed mast cell sarcoma NCIT:C9348 NCIT MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast Cell Sarcoma NCIT:C9348 Mast Cell Sarcoma confirmed mast cell sarcoma NCIT:C9348 NCIT +MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma confirmed mast cell sarcoma NCIT:C9348 NCIT MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS NCIT:C9348 Mast Cell Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCS NCIT:C9348 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT +MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive osteopetrosis autosomal recessive osteopetrosis Autosomal Recessive Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis confirmed autosomal recessive osteopetrosis NCIT:C129733 NCIT MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski Syndrome NCIT:C85028 Progressive Supranuclear Palsy confirmed Steele-Richardson-Olszewski syndrome NCIT:C85028 NCIT MONDO:0019040 chromosomal disorder oio:hasExactSynonym chromosome disorder chromosome disorder Chromosome Disorder NCIT:C34470 Chromosome Disorder confirmed chromosome disorder NCIT:C34470 NCIT @@ -54915,8 +53757,6 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym inborn errors of MONDO:0019053 peroxisomal disease oio:hasExactSynonym disorder of peroxisomal function disorder of peroxisomal function Disorder of Peroxisomal Function NCIT:C85005 Peroxisomal Disorder confirmed disorder of peroxisomal function NCIT:C85005 NCIT MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disorder peroxisomal disorder Peroxisomal Disorder NCIT:C85005 Peroxisomal Disorder confirmed peroxisomal disorder NCIT:C85005 NCIT MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal function disorder peroxisomal function disorder Peroxisomal Function Disorder NCIT:C85005 Peroxisomal Disorder confirmed peroxisomal function disorder NCIT:C85005 NCIT -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm confirmed osseous neoplasm NCIT:C6603 NCIT -MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm confirmed osseous tumor NCIT:C6603 NCIT MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm confirmed bone neoplasm NCIT:C9343 NCIT MONDO:0019060 bone neoplasm oio:hasExactSynonym bone neoplasms bone neoplasms Bone Neoplasms NCIT:C9343 Bone Neoplasm confirmed bone neoplasms NCIT:C9343 NCIT MONDO:0019060 bone neoplasm oio:hasExactSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm confirmed bone tumor NCIT:C9343 NCIT @@ -54927,7 +53767,6 @@ MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous neoplasm osseous neopla MONDO:0019060 bone neoplasm oio:hasExactSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm confirmed osseous tumor NCIT:C9343 NCIT MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of bone tumor of bone Tumor of Bone NCIT:C9343 Bone Neoplasm confirmed tumor of bone NCIT:C9343 NCIT MONDO:0019060 bone neoplasm oio:hasExactSynonym tumor of the bone tumor of the bone Tumor of the Bone NCIT:C9343 Bone Neoplasm confirmed tumor of the bone NCIT:C9343 NCIT -MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym HSP NCIT:C34963 Henoch-Schönlein Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSP NCIT:C34963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019065 amyloidosis oio:hasExactSynonym amyloidosis amyloidosis Amyloidosis NCIT:C2868 Amyloidosis confirmed amyloidosis NCIT:C2868 NCIT MONDO:0019077 warty dyskeratoma oio:hasExactSynonym follicular dyskeratoma follicular dyskeratoma Follicular Dyskeratoma NCIT:C4087 Warty Dyskeratoma confirmed follicular dyskeratoma NCIT:C4087 NCIT MONDO:0019077 warty dyskeratoma oio:hasExactSynonym isolated follicular keratosis isolated follicular keratosis Isolated Follicular Keratosis NCIT:C4087 Warty Dyskeratoma confirmed isolated follicular keratosis NCIT:C4087 NCIT @@ -54937,7 +53776,6 @@ MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of esophagus MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym carcinoma of the esophagus carcinoma of the esophagus Carcinoma of the Esophagus NCIT:C3513 Esophageal Carcinoma confirmed carcinoma of the esophagus NCIT:C3513 NCIT MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophageal carcinoma esophageal carcinoma Esophageal Carcinoma NCIT:C3513 Esophageal Carcinoma confirmed esophageal carcinoma NCIT:C3513 NCIT MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym esophagus carcinoma esophagus carcinoma Esophagus Carcinoma NCIT:C3513 Esophageal Carcinoma confirmed esophagus carcinoma NCIT:C3513 NCIT -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CCA NCIT:C129865 Congenital Contractural Arachnodactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CCA NCIT:C129865 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym Cholangiocellular carcinoma Cholangiocellular carcinoma Cholangiocellular Carcinoma NCIT:C4436 Cholangiocarcinoma confirmed Cholangiocellular carcinoma NCIT:C4436 NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma NCIT:C4436 Cholangiocarcinoma confirmed cholangiocarcinoma NCIT:C4436 NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma, malignant cholangiocarcinoma, malignant CHOLANGIOCARCINOMA, MALIGNANT NCIT:C4436 Cholangiocarcinoma confirmed cholangiocarcinoma, malignant NCIT:C4436 NCIT @@ -54957,7 +53795,6 @@ MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis jirovecii pneumon MONDO:0019121 pneumocystosis oio:hasExactSynonym Pneumocystis pneumonia Pneumocystis pneumonia Pneumocystis Pneumonia NCIT:C3334 Pneumocystis Pneumonia confirmed Pneumocystis pneumonia NCIT:C3334 NCIT MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019121 pneumocystosis oio:hasExactSynonym PJP NCIT:C3334 Pneumocystis Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PJP NCIT:C3334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019121 pneumocystosis oio:hasExactSynonym PCP NCIT:C4725 Papillary Craniopharyngioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCP NCIT:C4725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler syndrome Loffler syndrome Loffler Syndrome NCIT:C35301 Loffler Syndrome confirmed Loffler syndrome NCIT:C35301 NCIT MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Loffler's syndrome Loffler's syndrome Loffler's Syndrome NCIT:C35301 Loffler Syndrome confirmed Loffler's syndrome NCIT:C35301 NCIT MONDO:0019122 idiopathic acute eosinophilic pneumonia oio:hasExactSynonym Löffler syndrome Löffler syndrome Löffler Syndrome NCIT:C35301 Loffler Syndrome confirmed Löffler syndrome NCIT:C35301 NCIT @@ -55005,7 +53842,6 @@ MONDO:0019187 Axenfeld-Rieger syndrome oio:hasExactSynonym Rieger syndrome Rieg MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome NCIT:C75466 Rubinstein-Taybi Syndrome confirmed Rubinstein-Taybi Syndrome NCIT:C75466 NCIT MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis oio:hasExactSynonym Mikulicz disease Mikulicz disease Mikulicz Disease NCIT:C34819 Mikulicz Disease confirmed Mikulicz disease NCIT:C34819 NCIT MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym acquired generalized lipodystrophy acquired generalized lipodystrophy Acquired Generalized Lipodystrophy NCIT:C131089 Acquired Generalized Lipodystrophy confirmed acquired generalized lipodystrophy NCIT:C131089 NCIT -MONDO:0019193 acquired generalized lipodystrophy oio:hasExactSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy confirmed Lawrence-Seip syndrome NCIT:C84594 NCIT MONDO:0019194 localized lipodystrophy oio:hasExactSynonym focal lipodystrophy focal lipodystrophy Focal Lipodystrophy NCIT:C131814 Focal Lipodystrophy confirmed focal lipodystrophy NCIT:C131814 NCIT MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis Pigmentosa NCIT:C85045 Retinitis Pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed retinitis pigmentosa NCIT:C85045 NCIT MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma NCIT:C6496 Myxofibrosarcoma confirmed fibromyxosarcoma NCIT:C6496 NCIT @@ -55040,8 +53876,8 @@ MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticari MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa/maculopapular cutaneous mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis confirmed urticaria pigmentosa/maculopapular cutaneous mastocytosis NCIT:C3433 NCIT MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UP/MPCM NCIT:C3433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019319 verrucous nevus oio:hasExactSynonym verrucous Epidermal Nevus verrucous Epidermal Nevus Verrucous Epidermal Nevus NCIT:C4674 Verrucous Nevus confirmed verrucous Epidermal Nevus NCIT:C4674 NCIT -MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma confirmed cavernous lymphangioma NCIT:C53316 NCIT MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous Lymphangioma NCIT:C53316 Cavernous Lymphangioma confirmed cavernous lymphangioma NCIT:C53316 NCIT +MONDO:0019328 macrocystic lymphatic malformation oio:hasExactSynonym cavernous lymphangioma cavernous lymphangioma Cavernous lymphangioma NCIT:C53316 Cavernous Lymphangioma confirmed cavernous lymphangioma NCIT:C53316 NCIT MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner syndrome Gardner syndrome Gardner Syndrome NCIT:C6728 Gardner Syndrome confirmed Gardner syndrome NCIT:C6728 NCIT MONDO:0019336 Gardner syndrome oio:hasExactSynonym Gardner's syndrome Gardner's syndrome Gardner's Syndrome NCIT:C6728 Gardner Syndrome confirmed Gardner's syndrome NCIT:C6728 NCIT MONDO:0019338 sarcoidosis oio:hasExactSynonym sarcoid sarcoid Sarcoid NCIT:C34995 Sarcoidosis confirmed sarcoid NCIT:C34995 NCIT @@ -55066,13 +53902,13 @@ MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus e MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus fever epidemic typhus fever Epidemic Typhus Fever NCIT:C84689 Epidemic Louse-Borne Typhus confirmed epidemic typhus fever NCIT:C84689 NCIT MONDO:0019372 solitary bone cyst oio:hasExactSynonym simple bone cyst simple bone cyst Simple Bone Cyst NCIT:C2904 Simple Bone Cyst confirmed simple bone cyst NCIT:C2904 NCIT MONDO:0019372 solitary bone cyst oio:hasExactSynonym unicameral bone cyst unicameral bone cyst Unicameral Bone Cyst NCIT:C2904 Simple Bone Cyst confirmed unicameral bone cyst NCIT:C2904 NCIT -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor Desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell neoplasm Desmoplastic small round-cell neoplasm Desmoplastic Small Round-Cell Neoplasm NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round-cell neoplasm NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell tumor Desmoplastic small round-cell tumor Desmoplastic Small Round-Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round-cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Polyphenotypic small round cell tumor Polyphenotypic small round cell tumor Polyphenotypic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Polyphenotypic small round cell tumor NCIT:C8300 NCIT -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym DSRCT NCIT:C8300 Desmoplastic Small Round Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DSRCT NCIT:C8300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019380 western equine encephalitis oio:hasExactSynonym Western equine encephalomyelitis Western equine encephalomyelitis Western Equine Encephalomyelitis NCIT:C85227 Western Equine Encephalomyelitis confirmed Western equine encephalomyelitis NCIT:C85227 NCIT MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym acute disseminated encephalomyelitis acute disseminated encephalomyelitis Acute Disseminated Encephalomyelitis NCIT:C34578 Acute Disseminated Encephalomyelitis confirmed acute disseminated encephalomyelitis NCIT:C34578 NCIT @@ -55086,8 +53922,8 @@ MONDO:0019391 Fanconi anemia oio:hasExactSynonym primary erythroid hypoplasia p MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia Fanconi Anemia NCIT:C62505 Fanconi Anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fanconi anemia NCIT:C62505 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed Syringadenoma NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary Syringadenoma papillary Syringadenoma Papillary Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary Syringadenoma NCIT:C4172 NCIT -MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary syringocystadenoma NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary Syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary syringocystadenoma NCIT:C4172 NCIT +MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary syringocystadenoma NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma papilliferum NCIT:C4172 Syringocystadenoma Papilliferum confirmed syringocystadenoma papilliferum NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma Papilliferum NCIT:C4172 Syringocystadenoma Papilliferum confirmed syringocystadenoma papilliferum NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym SCAP NCIT:C4172 Syringocystadenoma Papilliferum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAP NCIT:C4172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -55107,8 +53943,8 @@ MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynon MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym ERA era ERA NCIT:C119024 Enthesitis-Related Arthritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ERA NCIT:C119024 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary Amyloidosis NCIT:C3818 Secondary Amyloidosis confirmed secondary amyloidosis NCIT:C3818 NCIT MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis NCIT:C85199 Trichinosis confirmed trichinosis NCIT:C85199 NCIT -MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia confirmed chronic neutrophilic leukemia NCIT:C3179 NCIT MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic neutrophilic leukemia NCIT:C3179 Chronic Neutrophilic Leukemia confirmed chronic neutrophilic leukemia NCIT:C3179 NCIT +MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym chronic neutrophilic leukemia chronic neutrophilic leukemia Chronic Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia confirmed chronic neutrophilic leukemia NCIT:C3179 NCIT MONDO:0019451 chronic neutrophilic leukemia oio:hasExactSynonym neutrophilic leukemia neutrophilic leukemia Neutrophilic Leukemia NCIT:C3179 Chronic Neutrophilic Leukemia confirmed neutrophilic leukemia NCIT:C3179 NCIT MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified confirmed CMPD, U NCIT:C27350 NCIT MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym MPN, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified confirmed MPN, U NCIT:C27350 NCIT @@ -55124,8 +53960,8 @@ MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactS MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym MDS-MLD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-MLD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym RCMD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCMD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym myelodysplastic syndrome with Excess blasts myelodysplastic syndrome with Excess blasts Myelodysplastic Syndrome with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed myelodysplastic syndrome with Excess blasts NCIT:C7506 NCIT -MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory anemia with excess blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT +MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with an Excess of blasts refractory Anemia with an Excess of blasts Refractory Anemia with an Excess of Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with an Excess of blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym MDS-EB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-EB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym RAEB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -55154,8 +53990,8 @@ MONDO:0019461 B-cell prolymphocytic leukemia oio:hasExactSynonym B-cell prolymp MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of spleen marginal zone lymphoma of spleen Marginal Zone Lymphoma of Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed marginal zone lymphoma of spleen NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of the spleen marginal zone lymphoma of the spleen Marginal Zone Lymphoma of the Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed marginal zone lymphoma of the spleen NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic lymphoma with circulating villous lymphocytes splenic lymphoma with circulating villous lymphocytes Splenic Lymphoma with Circulating Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic lymphoma with circulating villous lymphocytes NCIT:C4663 NCIT -MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic Marginal Zone B-Cell Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT +MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma with villous lymphocytes splenic marginal zone B-cell lymphoma with villous lymphocytes Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma with villous lymphocytes NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma splenic marginal zone lymphoma Splenic Marginal Zone Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma with villous lymphocytes splenic marginal zone lymphoma with villous lymphocytes Splenic Marginal Zone Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone lymphoma with villous lymphocytes NCIT:C4663 NCIT @@ -55163,11 +53999,11 @@ MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SLVL NCIT:C4 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SMZL NCIT:C4663 Splenic Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMZL NCIT:C4663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019464 heavy chain disease oio:hasExactSynonym heavy chain disease heavy chain disease Heavy Chain Disease NCIT:C3082 Heavy Chain Disease confirmed heavy chain disease NCIT:C3082 NCIT MONDO:0019464 heavy chain disease oio:hasExactSynonym HCD NCIT:C3082 Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCD NCIT:C3082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma Monocytoid B-cell lymphoma Monocytoid B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone B-cell lymphoma nodal marginal zone B-cell lymphoma Nodal Marginal Zone B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone B-cell lymphoma NCIT:C8863 NCIT -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal Marginal Zone Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT MONDO:0019466 lymphomatoid granulomatosis oio:hasExactSynonym LYG NCIT:C7930 Lymphomatoid Granulomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LYG NCIT:C7930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ Hematodermic Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed CD4+/CD56+ hematodermic neoplasm NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym agranular CD4+ CD56+ hematodermic neoplasm/tumor agranular CD4+ CD56+ hematodermic neoplasm/tumor Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed agranular CD4+ CD56+ hematodermic neoplasm/tumor NCIT:C7203 NCIT @@ -55185,8 +54021,8 @@ MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T prolymphocyt MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T-cell prolymphocytic leukemia T-cell prolymphocytic leukemia T-Cell Prolymphocytic Leukemia NCIT:C4752 T-Cell Prolymphocytic Leukemia confirmed T-cell prolymphocytic leukemia NCIT:C4752 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T gamma lymphoproliferative disorder T gamma lymphoproliferative disorder T Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T gamma lymphoproliferative disorder NCIT:C4664 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia T-Cell Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T-cell large granular lymphocyte leukemia NCIT:C4664 NCIT -MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T-cell large granular lymphocytic leukemia NCIT:C4664 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T-cell large granular lymphocytic leukemia NCIT:C4664 NCIT +MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-cell large granular lymphocytic leukemia T-cell large granular lymphocytic leukemia T-Cell Large Granular Lymphocytic Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T-cell large granular lymphocytic leukemia NCIT:C4664 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym T-gamma lymphoproliferative disorder T-gamma lymphoproliferative disorder T-Gamma Lymphoproliferative Disorder NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed T-gamma lymphoproliferative disorder NCIT:C4664 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym Tgamma large granular lymphocyte leukemia Tgamma large granular lymphocyte leukemia Tgamma Large Granular Lymphocyte Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed Tgamma large granular lymphocyte leukemia NCIT:C4664 NCIT MONDO:0019469 T-cell large granular lymphocyte leukemia oio:hasExactSynonym large cell granular lymphogenous leukemia large cell granular lymphogenous leukemia Large Cell Granular Lymphogenous Leukemia NCIT:C4664 T-Cell Large Granular Lymphocyte Leukemia confirmed large cell granular lymphogenous leukemia NCIT:C4664 NCIT @@ -55203,14 +54039,14 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukemia natural killer cell leukemia Natural Killer Cell Leukemia NCIT:C8647 Aggressive NK-Cell Leukemia confirmed natural killer cell leukemia NCIT:C8647 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma confirmed adult T-cell leukemia/lymphoma NCIT:C3184 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL NCIT:C3184 Adult T-Cell Leukemia/Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATLL NCIT:C3184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-Cell Lymphoma, Nasal Type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 NCIT +MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed angiocentric T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-cell lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed angiocentric T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma Nasal Type Extranodal NK/T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed nasal type Extranodal NK/T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym reticulosis, malignant reticulosis, malignant RETICULOSIS, MALIGNANT NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed reticulosis, malignant NCIT:C4684 NCIT -MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy Associated T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT +MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy-type T-cell lymphoma enteropathy-type T-cell lymphoma Enteropathy-Type T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy-type T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym EATL NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EATL NCIT:C4737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019474 hepatosplenic T-cell lymphoma oio:hasExactSynonym Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic Gamma/Delta T-Cell Lymphoma NCIT:C8459 Hepatosplenic T-Cell Lymphoma confirmed Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459 NCIT @@ -55225,8 +54061,8 @@ MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExact MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma NCIT:C27349 Histiocytic Sarcoma confirmed histiocytic sarcoma NCIT:C27349 NCIT MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic Sarcoma NCIT:C27349 Histiocytic Sarcoma confirmed histiocytic sarcoma NCIT:C27349 NCIT MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym sarcoma, histiocytic, malignant sarcoma, histiocytic, malignant SARCOMA, HISTIOCYTIC, MALIGNANT NCIT:C27349 Histiocytic Sarcoma confirmed sarcoma, histiocytic, malignant NCIT:C27349 NCIT -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT +MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferative disorder methotrexate-associated lymphoproliferative disorder Methotrexate-Associated Lymphoproliferative Disorder NCIT:C7184 Methotrexate-Associated Lymphoproliferative Disorder confirmed methotrexate-associated lymphoproliferative disorder NCIT:C7184 NCIT MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm neuroendocrine neoplasm Neuroendocrine Neoplasm NCIT:C3809 Neuroendocrine Neoplasm confirmed neuroendocrine neoplasm NCIT:C3809 NCIT MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine tumor neuroendocrine tumor Neuroendocrine Tumor NCIT:C3809 Neuroendocrine Neoplasm confirmed neuroendocrine tumor NCIT:C3809 NCIT @@ -55334,7 +54170,6 @@ MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD NCIT:C27 MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym congenital malformation syndrome congenital malformation syndrome Congenital Malformation Syndrome NCIT:C99267 Congenital Malformation Syndrome confirmed congenital malformation syndrome NCIT:C99267 NCIT MONDO:0019759 epispadias oio:hasExactSynonym epispadias epispadias Epispadias NCIT:C98923 Epispadias confirmed epispadias NCIT:C98923 NCIT MONDO:0019781 astrocytoma (excluding glioblastoma) oio:hasExactSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS confirmed astrocytoma NCIT:C60781 NCIT -MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019796 acrocephalosyndactyly oio:hasExactSynonym acrocephalosyndactyly acrocephalosyndactyly Acrocephalosyndactyly NCIT:C34348 Acrocephalosyndactyly confirmed acrocephalosyndactyly NCIT:C34348 NCIT MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym Addisonian crisis Addisonian crisis Addisonian Crisis NCIT:C112840 Adrenal Crisis confirmed Addisonian crisis NCIT:C112840 NCIT MONDO:0019801 acute adrenal insufficiency oio:hasExactSynonym adrenal crisis adrenal crisis Adrenal Crisis NCIT:C112840 Adrenal Crisis confirmed adrenal crisis NCIT:C112840 NCIT @@ -55460,12 +54295,12 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym pri MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMBL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMBL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMLCL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMLCL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic large cell lymphoma angiotropic large cell lymphoma Angiotropic Large Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic large cell lymphoma NCIT:C4342 NCIT -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular B-cell lymphoma NCIT:C4342 NCIT -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular large B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular Large B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular large B-cell lymphoma NCIT:C4342 NCIT +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular large B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym malignant angioendotheliomatosis malignant angioendotheliomatosis Malignant Angioendotheliomatosis NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed malignant angioendotheliomatosis NCIT:C4342 NCIT MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 Positive anaplastic large cell lymphoma CD30 Positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma confirmed CD30 Positive anaplastic large cell lymphoma NCIT:C3720 NCIT MONDO:0020325 anaplastic large cell lymphoma oio:hasExactSynonym CD30 positive anaplastic large cell lymphoma CD30 positive anaplastic large cell lymphoma CD30 Positive Anaplastic Large Cell Lymphoma NCIT:C3720 Anaplastic Large Cell Lymphoma confirmed CD30 positive anaplastic large cell lymphoma NCIT:C3720 NCIT @@ -55500,7 +54335,6 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSyn MONDO:0020453 congenital partial pulmonary venous return anomaly oio:hasExactSynonym Partial anomalous pulmonary Venous return Partial anomalous pulmonary Venous return Partial Anomalous Pulmonary Venous Return NCIT:C99004 Partial Anomalous Pulmonary Venous Return confirmed Partial anomalous pulmonary Venous return NCIT:C99004 NCIT MONDO:0020481 myotonia fluctuans oio:hasExactSynonym exercise-induced delayed-onset myotonia exercise-induced delayed-onset myotonia Exercise-Induced Delayed-Onset Myotonia NCIT:C122789 Myotonia Fluctuans confirmed exercise-induced delayed-onset myotonia NCIT:C122789 NCIT MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C122789 Myotonia Fluctuans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MF NCIT:C122789 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0020481 myotonia fluctuans oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020491 subcortical band heterotopia oio:hasExactSynonym double cortex syndrome double cortex syndrome Double Cortex Syndrome NCIT:C116933 Double Cortex Syndrome confirmed double cortex syndrome NCIT:C116933 NCIT MONDO:0020492 hemimegalencephaly oio:hasExactSynonym unilateral megalencephaly unilateral megalencephaly Unilateral Megalencephaly NCIT:C177779 Hemimegalencephaly confirmed unilateral megalencephaly NCIT:C177779 NCIT MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym Marburg virus disease Marburg virus disease Marburg Virus Disease NCIT:C84883 Marburg Virus Disease confirmed Marburg virus disease NCIT:C84883 NCIT @@ -55516,8 +54350,8 @@ MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocyt MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma Thymic Neuroendocrine Carcinoma NCIT:C171031 Thymic Neuroendocrine Carcinoma confirmed thymic neuroendocrine carcinoma NCIT:C171031 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym Monostotic Langerhans cell histiocytosis Monostotic Langerhans cell histiocytosis Monostotic Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed Monostotic Langerhans cell histiocytosis NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym chronic unifocal Langerhans cell histiocytosis chronic unifocal Langerhans cell histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed chronic unifocal Langerhans cell histiocytosis NCIT:C3016 NCIT -MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic Granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT +MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic xanthomatous granuloma eosinophilic xanthomatous granuloma Eosinophilic Xanthomatous Granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic xanthomatous granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym unifocal Langerhans cell histiocytosis unifocal Langerhans cell histiocytosis Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed unifocal Langerhans cell histiocytosis NCIT:C3016 NCIT MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym classic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis Classic Multifocal Langerhans Cell Histiocytosis NCIT:C6920 Hand-Schuller-Christian Disease confirmed classic multifocal Langerhans cell histiocytosis NCIT:C6920 NCIT @@ -55550,10 +54384,10 @@ MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma dest MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma Destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma destruens NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive Mole invasive Mole Invasive Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive gestational trophoblastic neoplasm invasive gestational trophoblastic neoplasm Invasive Gestational Trophoblastic Neoplasm NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive gestational trophoblastic neoplasm NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT MONDO:0020550 gestational choriocarcinoma oio:hasExactSynonym gestational choriocarcinoma gestational choriocarcinoma Gestational Choriocarcinoma NCIT:C4646 Gestational Choriocarcinoma confirmed gestational choriocarcinoma NCIT:C4646 NCIT MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site gestational trophoblastic tumor placental site gestational trophoblastic tumor Placental Site Gestational Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor confirmed placental site gestational trophoblastic tumor NCIT:C3757 NCIT MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site trophoblastic tumor placental site trophoblastic tumor Placental Site Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor confirmed placental site trophoblastic tumor NCIT:C3757 NCIT @@ -55594,10 +54428,10 @@ MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tum MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym rhabdoid tumor of the central nervous system rhabdoid tumor of the central nervous system Rhabdoid Tumor of the Central Nervous System NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor confirmed rhabdoid tumor of the central nervous system NCIT:C6906 NCIT MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATRT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma confirmed pleomorphic liposarcoma NCIT:C3705 NCIT MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic Liposarcoma NCIT:C3705 Pleomorphic Liposarcoma confirmed pleomorphic liposarcoma NCIT:C3705 NCIT -MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma confirmed dedifferentiated liposarcoma NCIT:C3704 NCIT +MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma NCIT:C3705 Pleomorphic Liposarcoma confirmed pleomorphic liposarcoma NCIT:C3705 NCIT MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma confirmed dedifferentiated liposarcoma NCIT:C3704 NCIT +MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated Liposarcoma NCIT:C3704 Dedifferentiated Liposarcoma confirmed dedifferentiated liposarcoma NCIT:C3704 NCIT MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym DDLPS NCIT:C3704 Dedifferentiated Liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DDLPS NCIT:C3704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym CRPS II NCIT:C121572 Complex Regional Pain Syndrome II confirmed CRPS II NCIT:C121572 NCIT MONDO:0020572 complex regional pain syndrome type 2 oio:hasExactSynonym Complex regional pain syndrome II Complex regional pain syndrome II Complex Regional Pain Syndrome II NCIT:C121572 Complex Regional Pain Syndrome II confirmed Complex regional pain syndrome II NCIT:C121572 NCIT @@ -55607,7 +54441,6 @@ MONDO:0020575 polymorphic ventricular tachycardia oio:hasExactSynonym polymorph MONDO:0020576 cutaneous vasculitis oio:hasExactSynonym cutaneous vasculitis cutaneous vasculitis Cutaneous Vasculitis NCIT:C112210 Cutaneous Vasculitis confirmed cutaneous vasculitis NCIT:C112210 NCIT MONDO:0020577 childhood gonadal germ cell tumor oio:hasExactSynonym childhood gonadal germ cell tumor childhood gonadal germ cell tumor Childhood Gonadal Germ Cell Tumor NCIT:C114801 Childhood Gonadal Germ Cell Tumor confirmed childhood gonadal germ cell tumor NCIT:C114801 NCIT MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis confirmed mucositis NCIT:C115965 NCIT -MONDO:0020579 mucositis oio:hasExactSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis confirmed mucositis NCIT:C3853 NCIT MONDO:0020580 germinomatous germ cell tumor oio:hasExactSynonym germinomatous germ cell tumor germinomatous germ cell tumor Germinomatous Germ Cell Tumor NCIT:C121618 Germinomatous Germ Cell Tumor confirmed germinomatous germ cell tumor NCIT:C121618 NCIT MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa benign PEComa Benign PEComa NCIT:C121791 Benign PEComa confirmed benign PEComa NCIT:C121791 NCIT MONDO:0020581 benign PEComa oio:hasExactSynonym benign PEComa, nos benign PEComa, nos Benign PEComa, NOS NCIT:C121791 Benign PEComa confirmed benign PEComa, nos NCIT:C121791 NCIT @@ -55647,13 +54480,11 @@ MONDO:0020599 acquired coagulation factor deficiency oio:hasExactSynonym acquir MONDO:0020600 acute pharyngitis oio:hasExactSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis confirmed acute pharyngitis NCIT:C34355 NCIT MONDO:0020601 mosquito-borne viral encephalitis oio:hasExactSynonym mosquito-borne viral encephalitis mosquito-borne viral encephalitis Mosquito-Borne Viral Encephalitis NCIT:C34823 Mosquito-Borne Viral Encephalitis confirmed mosquito-borne viral encephalitis NCIT:C34823 NCIT MONDO:0020633 anaplastic cancer oio:hasExactSynonym anaplastic malignant neoplasm anaplastic malignant neoplasm Anaplastic Malignant Neoplasm NCIT:C36025 Anaplastic Malignant Neoplasm confirmed anaplastic malignant neoplasm NCIT:C36025 NCIT -MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma Who Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT +MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym grade 3 meningioma grade 3 meningioma Grade 3 Meningioma NCIT:C38938 Grade 3 Meningioma confirmed grade 3 meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym grade III meningioma grade III meningioma Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma confirmed meningioma, malignant NCIT:C38938 NCIT -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma confirmed meningioma, malignant NCIT:C4051 NCIT -MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma confirmed meningioma, malignant NCIT:C4051 NCIT MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic (malignant) meningioma anaplastic (malignant) meningioma Anaplastic (Malignant) Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma confirmed anaplastic (malignant) meningioma NCIT:C4051 NCIT MONDO:0020635 anaplastic meningioma oio:hasExactSynonym anaplastic meningioma anaplastic meningioma Anaplastic Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma confirmed anaplastic meningioma NCIT:C4051 NCIT MONDO:0020635 anaplastic meningioma oio:hasExactSynonym malignant meningioma malignant meningioma Malignant Meningioma NCIT:C4051 Anaplastic (Malignant) Meningioma confirmed malignant meningioma NCIT:C4051 NCIT @@ -55705,8 +54536,8 @@ MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactS MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papilloma virus-related squamous cell carcinoma human papilloma virus-related squamous cell carcinoma Human Papilloma Virus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma confirmed human papilloma virus-related squamous cell carcinoma NCIT:C27683 NCIT MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papillomavirus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma Human Papillomavirus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma confirmed human papillomavirus-related squamous cell carcinoma NCIT:C27683 NCIT MONDO:0020660 osteoblastic osteosarcoma oio:hasExactSynonym osteoblastic osteosarcoma osteoblastic osteosarcoma Osteoblastic Osteosarcoma NCIT:C53953 Osteoblastic Osteosarcoma confirmed osteoblastic osteosarcoma NCIT:C53953 NCIT -MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated Round Cell Sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT +MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous neoplasm borderline ovarian serous neoplasm Borderline Ovarian Serous Neoplasm NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline ovarian serous neoplasm NCIT:C5226 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous tumor borderline ovarian serous tumor Borderline Ovarian Serous Tumor NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline ovarian serous tumor NCIT:C5226 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline serous neoplasm of ovary borderline serous neoplasm of ovary Borderline Serous Neoplasm of Ovary NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline serous neoplasm of ovary NCIT:C5226 NCIT @@ -55775,7 +54606,6 @@ MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym brachial amyotr MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym flail arm syndrome flail arm syndrome Flail Arm Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia confirmed flail arm syndrome NCIT:C133085 NCIT MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym man-in-barrel syndrome man-in-barrel syndrome Man-in-barrel Syndrome NCIT:C133085 Brachial Amyotrophic Diplegia confirmed man-in-barrel syndrome NCIT:C133085 NCIT MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FAS NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym FAS NCIT:C84713 Fetal Alcohol Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FAS NCIT:C84713 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020710 amnionitis oio:hasExactSynonym amnionitis amnionitis Amnionitis NCIT:C50459 Amnionitis confirmed amnionitis NCIT:C50459 NCIT MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym 46,XY sex reversal 1 46,XY sex reversal 1 46,XY Sex Reversal 1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed 46,XY sex reversal 1 NCIT:C128188 NCIT MONDO:0020712 46,XY sex reversal 1 oio:hasExactSynonym SRXY1 NCIT:C128188 46,XY Sex Reversal 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SRXY1 NCIT:C128188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -55806,14 +54636,14 @@ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squ MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym skin squamous cell carcinoma in situ skin squamous cell carcinoma in situ Skin Squamous Cell Carcinoma In Situ NCIT:C2906 Skin Squamous Cell Carcinoma In Situ confirmed skin squamous cell carcinoma in situ NCIT:C2906 NCIT MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of skin squamous cell carcinoma in situ of skin Squamous Cell Carcinoma in situ of Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ confirmed squamous cell carcinoma in situ of skin NCIT:C2906 NCIT MONDO:0020760 skin squamous cell carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ of the skin squamous cell carcinoma in situ of the skin Squamous Cell Carcinoma in situ of the Skin NCIT:C2906 Skin Squamous Cell Carcinoma In Situ confirmed squamous cell carcinoma in situ of the skin NCIT:C2906 NCIT -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen Disease NCIT:C62571 NCIT MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen Disease NCIT:C62571 NCIT -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen disease NCIT:C62571 NCIT +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen Disease Bowen Disease Bowen disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen Disease NCIT:C62571 NCIT MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease Bowen disease Bowen Disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen disease NCIT:C62571 NCIT +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease NCIT:C62571 Bowen Disease of the Skin confirmed Bowen disease NCIT:C62571 NCIT MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen disease of the skin Bowen disease of the skin Bowen Disease of the Skin NCIT:C62571 Bowen Disease of the Skin confirmed Bowen disease of the skin NCIT:C62571 NCIT MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym Bowen's disease of the skin Bowen's disease of the skin Bowen's Disease of the Skin NCIT:C62571 Bowen Disease of the Skin confirmed Bowen's disease of the skin NCIT:C62571 NCIT -MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin confirmed intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 NCIT MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal Squamous Cell Carcinoma, Bowen Type NCIT:C62571 Bowen Disease of the Skin confirmed intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 NCIT +MONDO:0020761 Bowen disease of the skin oio:hasExactSynonym intraepidermal squamous cell carcinoma, Bowen type intraepidermal squamous cell carcinoma, Bowen type Intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 Bowen Disease of the Skin confirmed intraepidermal squamous cell carcinoma, Bowen type NCIT:C62571 NCIT MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym cauda equina syndrome with neurogenic bladder cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder confirmed cauda equina syndrome with neurogenic bladder NCIT:C34453 NCIT MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym cerebrospinal fluid rhinorrhea cerebrospinal fluid rhinorrhea Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea confirmed cerebrospinal fluid rhinorrhea NCIT:C84627 NCIT MONDO:0020779 cartilage development disorder oio:hasExactSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder confirmed cartilage development disorder NCIT:C34466 NCIT @@ -55826,7 +54656,6 @@ MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynony MONDO:0020800 demyelinating disease of central nervous system oio:hasExactSynonym demyelinating disorder of central nervous system demyelinating disorder of central nervous system Demyelinating Disorder of Central Nervous System NCIT:C34526 Demyelinating Disorder of Central Nervous System confirmed demyelinating disorder of central nervous system NCIT:C34526 NCIT MONDO:0020801 rectal medullary carcinoma oio:hasExactSynonym rectal medullary carcinoma rectal medullary carcinoma Rectal Medullary Carcinoma NCIT:C60640 Rectal Medullary Carcinoma confirmed rectal medullary carcinoma NCIT:C60640 NCIT MONDO:0020804 basal cell carcinoma oio:hasExactSynonym malignant basal cell neoplasm malignant basal cell neoplasm Malignant Basal Cell Neoplasm NCIT:C156767 Basal Cell Carcinoma confirmed malignant basal cell neoplasm NCIT:C156767 NCIT -MONDO:0020804 basal cell carcinoma oio:hasExactSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma confirmed basal cell cancer NCIT:C2921 NCIT MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor confirmed Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 NCIT MONDO:0020807 ovarian sertoli-stromal cell tumor oio:hasExactSynonym Ovarian Sertoli-Stromal Tumor NCIT:C39966 Ovarian Sertoli-Stromal Cell Tumor confirmed Ovarian Sertoli-Stromal Tumor NCIT:C39966 NCIT MONDO:0020808 testicular sertoli cell tumor oio:hasExactSynonym Sertoli Cell Neoplasm of Testis NCIT:C4672 Testicular Sertoli Cell Tumor confirmed Sertoli Cell Neoplasm of Testis NCIT:C4672 NCIT @@ -55861,7 +54690,6 @@ MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy Nevu MONDO:0020980 hair nevus oio:hasExactSynonym hairy nevus hairy nevus Hairy nevus NCIT:C3074 Hairy Nevus confirmed hairy nevus NCIT:C3074 NCIT MONDO:0020980 hair nevus oio:hasExactSynonym nevoid hypertrichosis nevoid hypertrichosis Nevoid Hypertrichosis NCIT:C3074 Hairy Nevus confirmed nevoid hypertrichosis NCIT:C3074 NCIT MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym hereditary persistence of fetal hemoglobin hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin confirmed hereditary persistence of fetal hemoglobin NCIT:C129072 NCIT -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis confirmed hemochromatosis NCIT:C82892 NCIT MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE-associated hereditary hemochromatosis HFE-associated hereditary hemochromatosis HFE-Associated Hereditary Hemochromatosis NCIT:C84764 HFE-Associated Hereditary Hemochromatosis confirmed HFE-associated hereditary hemochromatosis NCIT:C84764 NCIT MONDO:0021003 polydactyly oio:hasExactSynonym hyperdactyly hyperdactyly Hyperdactyly NCIT:C87110 Polydactyly confirmed hyperdactyly NCIT:C87110 NCIT MONDO:0021003 polydactyly oio:hasExactSynonym polydactylism polydactylism Polydactylism NCIT:C87110 Polydactyly confirmed polydactylism NCIT:C87110 NCIT @@ -55954,10 +54782,10 @@ MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal neoplasm vaginal neo MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm confirmed vaginal tumor NCIT:C3437 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Extra-adrenal paraganglioma parasympathetic Extra-adrenal paraganglioma Parasympathetic Extra-Adrenal Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic Extra-adrenal paraganglioma NCIT:C4217 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Paraganglionic neoplasm parasympathetic Paraganglionic neoplasm Parasympathetic Paraganglionic Neoplasm NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic Paraganglionic neoplasm NCIT:C4217 NCIT -MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma confirmed carotid body paraganglioma NCIT:C2932 NCIT +MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid Body Paraganglioma NCIT:C2932 Carotid Body Paraganglioma confirmed carotid body paraganglioma NCIT:C2932 NCIT +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma confirmed carotid body paraganglioma NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym paraganglioma of carotid body paraganglioma of carotid body Paraganglioma of Carotid Body NCIT:C2932 Carotid Body Paraganglioma confirmed paraganglioma of carotid body NCIT:C2932 NCIT MONDO:0021054 bone sarcoma oio:hasExactSynonym bone sarcoma bone sarcoma Bone Sarcoma NCIT:C9312 Bone Sarcoma confirmed bone sarcoma NCIT:C9312 NCIT MONDO:0021054 bone sarcoma oio:hasExactSynonym osseous sarcoma osseous sarcoma Osseous Sarcoma NCIT:C9312 Bone Sarcoma confirmed osseous sarcoma NCIT:C9312 NCIT @@ -55979,13 +54807,8 @@ MONDO:0021058 neoplastic syndrome oio:hasExactSynonym cancer-related syndrome c MONDO:0021058 neoplastic syndrome oio:hasExactSynonym neoplastic syndrome neoplastic syndrome Neoplastic Syndrome NCIT:C54705 Neoplastic Syndrome confirmed neoplastic syndrome NCIT:C54705 NCIT MONDO:0021058 neoplastic syndrome oio:hasExactSynonym tumor syndrome tumor syndrome Tumor Syndrome NCIT:C54705 Neoplastic Syndrome confirmed tumor syndrome NCIT:C54705 NCIT MONDO:0021060 RASopathy oio:hasExactSynonym RASopathy NCIT:C179667 RASopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed RASopathy NCIT:C179667 NCIT -MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 confirmed neurofibromatosis NCIT:C3273 NCIT -MONDO:0021061 neurofibromatosis oio:hasExactSynonym peripheral Neurofibromatosis peripheral Neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 confirmed peripheral Neurofibromatosis NCIT:C3273 NCIT -MONDO:0021061 neurofibromatosis oio:hasExactSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 confirmed acoustic neurofibromatosis NCIT:C3274 NCIT -MONDO:0021061 neurofibromatosis oio:hasExactSynonym central Neurofibromatosis central Neurofibromatosis Central Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 confirmed central Neurofibromatosis NCIT:C3274 NCIT MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis confirmed neurofibromatosis NCIT:C6727 NCIT MONDO:0021061 neurofibromatosis oio:hasExactSynonym neurofibromatosis syndrome neurofibromatosis syndrome Neurofibromatosis Syndrome NCIT:C6727 Neurofibromatosis confirmed neurofibromatosis syndrome NCIT:C6727 NCIT -MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma confirmed colon cancer NCIT:C4910 NCIT MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon neoplasm, malignant colon neoplasm, malignant Colon Neoplasm, Malignant NCIT:C9242 Malignant Colon Neoplasm confirmed colon neoplasm, malignant NCIT:C9242 NCIT MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym colon tumor, malignant colon tumor, malignant Colon Tumor, Malignant NCIT:C9242 Malignant Colon Neoplasm confirmed colon tumor, malignant NCIT:C9242 NCIT MONDO:0021063 malignant colon neoplasm oio:hasExactSynonym malignant colon neoplasm malignant colon neoplasm Malignant Colon Neoplasm NCIT:C9242 Malignant Colon Neoplasm confirmed malignant colon neoplasm NCIT:C9242 NCIT @@ -56000,8 +54823,8 @@ MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare tumor glomus jugulare tumor Glomus Jugulare Tumor NCIT:C3061 Jugulotympanic Paraganglioma confirmed glomus jugulare tumor NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugular paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugular paraganglioma NCIT:C3061 NCIT -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT +MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of glomus jugulare neoplasm of glomus jugulare Neoplasm of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed neoplasm of glomus jugulare NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of the glomus jugulare neoplasm of the glomus jugulare Neoplasm of the Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed neoplasm of the glomus jugulare NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym tumor of glomus jugulare tumor of glomus jugulare Tumor of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed tumor of glomus jugulare NCIT:C3061 NCIT @@ -56032,7 +54855,6 @@ MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumor ovarian tumor MONDO:0021068 ovarian neoplasm oio:hasExactSynonym ovarian tumors ovarian tumors Ovarian Tumors NCIT:C4984 Ovarian Neoplasm confirmed ovarian tumors NCIT:C4984 NCIT MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of ovary tumor of ovary Tumor of Ovary NCIT:C4984 Ovarian Neoplasm confirmed tumor of ovary NCIT:C4984 NCIT MONDO:0021068 ovarian neoplasm oio:hasExactSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm confirmed tumor of the ovary NCIT:C4984 NCIT -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym Endocrine tumor Endocrine tumor Endocrine Tumor NCIT:C3010 Endocrine Neoplasm confirmed Endocrine tumor NCIT:C3010 NCIT MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym endocrine neoplasm, malignant endocrine neoplasm, malignant Endocrine Neoplasm, Malignant NCIT:C3575 Malignant Endocrine Neoplasm confirmed endocrine neoplasm, malignant NCIT:C3575 NCIT MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland neoplasm malignant endocrine gland neoplasm Malignant Endocrine Gland Neoplasm NCIT:C3575 Malignant Endocrine Neoplasm confirmed malignant endocrine gland neoplasm NCIT:C3575 NCIT MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym malignant endocrine gland tumor malignant endocrine gland tumor Malignant Endocrine Gland Tumor NCIT:C3575 Malignant Endocrine Neoplasm confirmed malignant endocrine gland tumor NCIT:C3575 NCIT @@ -56051,11 +54873,11 @@ MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of larynx neoplas MONDO:0021071 laryngeal neoplasm oio:hasExactSynonym neoplasm of the larynx neoplasm of the larynx Neoplasm of the Larynx NCIT:C3156 Laryngeal Neoplasm confirmed neoplasm of the larynx NCIT:C3156 NCIT MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym Chromaffinoma NCIT:C4216 Sympathetic Paraganglioma confirmed Chromaffinoma NCIT:C4216 NCIT MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin neoplasm chromaffin neoplasm Chromaffin Neoplasm NCIT:C4216 Sympathetic Paraganglioma confirmed chromaffin neoplasm NCIT:C4216 NCIT -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma confirmed chromaffin tumor NCIT:C4216 NCIT MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin tumor NCIT:C4216 Sympathetic Paraganglioma confirmed chromaffin tumor NCIT:C4216 NCIT +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym chromaffin tumor chromaffin tumor Chromaffin Tumor NCIT:C4216 Sympathetic Paraganglioma confirmed chromaffin tumor NCIT:C4216 NCIT MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic Paraganglionic neoplasm sympathetic Paraganglionic neoplasm Sympathetic Paraganglionic Neoplasm NCIT:C4216 Sympathetic Paraganglioma confirmed sympathetic Paraganglionic neoplasm NCIT:C4216 NCIT -MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma confirmed sympathetic paraganglioma NCIT:C4216 NCIT MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic Paraganglioma NCIT:C4216 Sympathetic Paraganglioma confirmed sympathetic paraganglioma NCIT:C4216 NCIT +MONDO:0021072 sympathetic paraganglioma oio:hasExactSynonym sympathetic paraganglioma sympathetic paraganglioma Sympathetic paraganglioma NCIT:C4216 Sympathetic Paraganglioma confirmed sympathetic paraganglioma NCIT:C4216 NCIT MONDO:0021073 paraneoplastic syndrome oio:hasExactSynonym paraneoplastic syndrome paraneoplastic syndrome Paraneoplastic Syndrome NCIT:C3311 Paraneoplastic Syndrome confirmed paraneoplastic syndrome NCIT:C3311 NCIT MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous condition precancerous condition Precancerous Condition NCIT:C3341 Precancerous Condition confirmed precancerous condition NCIT:C3341 NCIT MONDO:0021074 precancerous condition oio:hasExactSynonym precancerous state precancerous state Precancerous State NCIT:C3341 Precancerous Condition confirmed precancerous state NCIT:C3341 NCIT @@ -56072,8 +54894,8 @@ MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of exocrin MONDO:0021076 pancreatic exocrine neoplasm oio:hasExactSynonym tumor of the exocrine pancreas tumor of the exocrine pancreas Tumor of the Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm confirmed tumor of the exocrine pancreas NCIT:C4445 NCIT MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic neoplasm cystic neoplasm Cystic Neoplasm NCIT:C6784 Cystic Neoplasm confirmed cystic neoplasm NCIT:C6784 NCIT MONDO:0021077 cystic neoplasm oio:hasExactSynonym cystic tumor cystic tumor Cystic Tumor NCIT:C6784 Cystic Neoplasm confirmed cystic tumor NCIT:C6784 NCIT -MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma confirmed glandular papilloma NCIT:C6880 NCIT MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma confirmed glandular papilloma NCIT:C6880 NCIT +MONDO:0021078 glandular papilloma oio:hasExactSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma confirmed glandular papilloma NCIT:C6880 NCIT MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood neoplasm childhood neoplasm Childhood Neoplasm NCIT:C6283 Childhood Neoplasm confirmed childhood neoplasm NCIT:C6283 NCIT MONDO:0021079 childhood neoplasm oio:hasExactSynonym childhood tumor childhood tumor Childhood Tumor NCIT:C6283 Childhood Neoplasm confirmed childhood tumor NCIT:C6283 NCIT MONDO:0021079 childhood neoplasm oio:hasExactSynonym pediatric neoplasm pediatric neoplasm Pediatric Neoplasm NCIT:C6283 Childhood Neoplasm confirmed pediatric neoplasm NCIT:C6283 NCIT @@ -56103,9 +54925,8 @@ MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gingiva tumor of g MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of gum tumor of gum Tumor of Gum NCIT:C3057 Gingival Neoplasm confirmed tumor of gum NCIT:C3057 NCIT MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gingiva tumor of the gingiva Tumor of the Gingiva NCIT:C3057 Gingival Neoplasm confirmed tumor of the gingiva NCIT:C3057 NCIT MONDO:0021086 gingival neoplasm oio:hasExactSynonym tumor of the gum tumor of the gum Tumor of the Gum NCIT:C3057 Gingival Neoplasm confirmed tumor of the gum NCIT:C3057 NCIT -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma confirmed papillary meningioma NCIT:C3904 NCIT MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma confirmed papillary meningioma NCIT:C3904 NCIT -MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma confirmed papillary meningioma NCIT:C8293 NCIT +MONDO:0021088 papillary meningioma oio:hasExactSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma confirmed papillary meningioma NCIT:C3904 NCIT MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS neoplasm malignant PNS neoplasm Malignant PNS Neoplasm NCIT:C4961 Malignant Peripheral Nervous System Neoplasm confirmed malignant PNS neoplasm NCIT:C4961 NCIT MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant PNS tumor malignant PNS tumor Malignant PNS Tumor NCIT:C4961 Malignant Peripheral Nervous System Neoplasm confirmed malignant PNS tumor NCIT:C4961 NCIT MONDO:0021089 peripheral nervous system cancer oio:hasExactSynonym malignant neoplasm of PNS malignant neoplasm of PNS Malignant Neoplasm of PNS NCIT:C4961 Malignant Peripheral Nervous System Neoplasm confirmed malignant neoplasm of PNS NCIT:C4961 NCIT @@ -56173,8 +54994,8 @@ MONDO:0021109 inverted urothelial papilloma oio:hasExactSynonym urinary tract i MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of sweat gland adenoma of sweat gland Adenoma of Sweat Gland NCIT:C7560 Sweat Gland Adenoma confirmed adenoma of sweat gland NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of the sweat gland adenoma of the sweat gland Adenoma of the Sweat Gland NCIT:C7560 Sweat Gland Adenoma confirmed adenoma of the sweat gland NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma, sweat gland, benign adenoma, sweat gland, benign ADENOMA, SWEAT GLAND, BENIGN NCIT:C7560 Sweat Gland Adenoma confirmed adenoma, sweat gland, benign NCIT:C7560 NCIT -MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT +MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of the ureter neoplasm of the ureter Neoplasm of the Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasm of the ureter NCIT:C3427 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of ureter neoplasm of ureter Neoplasm of Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasm of ureter NCIT:C3427 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasms of the ureter neoplasms of the ureter Neoplasms of the Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasms of the ureter NCIT:C3427 NCIT @@ -56191,7 +55012,6 @@ MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal neoplasm mal MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant scrotal tumor malignant scrotal tumor Malignant Scrotal Tumor NCIT:C3560 Malignant Scrotal Neoplasm confirmed malignant scrotal tumor NCIT:C3560 NCIT MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm confirmed malignant tumor of scrotum NCIT:C3560 NCIT MONDO:0021112 scrotum cancer oio:hasExactSynonym malignant tumor of the scrotum malignant tumor of the scrotum Malignant Tumor of the Scrotum NCIT:C3560 Malignant Scrotal Neoplasm confirmed malignant tumor of the scrotum NCIT:C3560 NCIT -MONDO:0021112 scrotum cancer oio:hasExactSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma confirmed cancer of scrotum NCIT:C6389 NCIT MONDO:0021113 respiratory failure oio:hasExactSynonym respiratory failure respiratory failure Respiratory Failure NCIT:C26872 Respiratory Failure confirmed respiratory failure NCIT:C26872 NCIT MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin gland neoplasm Bartholin gland neoplasm Bartholin Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm confirmed Bartholin gland neoplasm NCIT:C6434 NCIT MONDO:0021114 Bartholin gland neoplasm oio:hasExactSynonym Bartholin's gland neoplasm Bartholin's gland neoplasm Bartholin's Gland Neoplasm NCIT:C6434 Bartholin Gland Neoplasm confirmed Bartholin's gland neoplasm NCIT:C6434 NCIT @@ -56256,8 +55076,8 @@ MONDO:0021156 hypophysitis oio:hasExactSynonym hypophysis cerebri hypophysis ce MONDO:0021156 hypophysitis oio:hasExactSynonym nervous system, pituitary nervous system, pituitary Nervous System, Pituitary NCIT:C12399 Pituitary Gland confirmed nervous system, pituitary NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary NCIT:C12399 Pituitary Gland confirmed pituitary NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary pituitary Pituitary NCIT:C12399 Pituitary Gland confirmed pituitary NCIT:C12399 NCIT -MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary Gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT +MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm confirmed kidney neoplasm NCIT:C3150 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney tumor kidney tumor Kidney Tumor NCIT:C3150 Kidney Neoplasm confirmed kidney tumor NCIT:C3150 NCIT @@ -56268,8 +55088,6 @@ MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumor renal tumor Renal MONDO:0021163 kidney neoplasm oio:hasExactSynonym renal tumors renal tumors Renal Tumors NCIT:C3150 Kidney Neoplasm confirmed renal tumors NCIT:C3150 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of kidney tumor of kidney Tumor of Kidney NCIT:C3150 Kidney Neoplasm confirmed tumor of kidney NCIT:C3150 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym tumor of the kidney tumor of the kidney Tumor of the Kidney NCIT:C3150 Kidney Neoplasm confirmed tumor of the kidney NCIT:C3150 NCIT -MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm confirmed kidney neoplasm NCIT:C6563 NCIT -MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease confirmed Paget's disease NCIT:C3292 NCIT MONDO:0021165 Paget disease oio:hasExactSynonym Paget disease Paget disease Paget Disease NCIT:C7073 Paget Disease confirmed Paget disease NCIT:C7073 NCIT MONDO:0021165 Paget disease oio:hasExactSynonym Paget's cell neoplasm Paget's cell neoplasm Paget's Cell Neoplasm NCIT:C7073 Paget Disease confirmed Paget's cell neoplasm NCIT:C7073 NCIT MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease confirmed Paget's disease NCIT:C7073 NCIT @@ -56425,7 +55243,6 @@ MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brain stem tumor MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of brainstem tumor of brainstem Tumor of Brainstem NCIT:C4869 Brain Stem Neoplasm confirmed tumor of brainstem NCIT:C4869 NCIT MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brain stem tumor of the brain stem Tumor of the Brain Stem NCIT:C4869 Brain Stem Neoplasm confirmed tumor of the brain stem NCIT:C4869 NCIT MONDO:0021228 brainstem neoplasm oio:hasExactSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm confirmed tumor of the brainstem NCIT:C4869 NCIT -MONDO:0021228 brainstem neoplasm oio:hasExactSynonym Brain stem neoplasm Brain stem neoplasm Brain Stem Neoplasm NCIT:C5969 Childhood Brain Stem Neoplasm confirmed Brain stem neoplasm NCIT:C5969 NCIT MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym ciliary body tumor ciliary body tumor Ciliary Body Tumor NCIT:C4364 Ciliary Body Neoplasm confirmed ciliary body tumor NCIT:C4364 NCIT MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of ciliary body neoplasm of ciliary body Neoplasm of Ciliary Body NCIT:C4364 Ciliary Body Neoplasm confirmed neoplasm of ciliary body NCIT:C4364 NCIT MONDO:0021229 ciliary body neoplasm oio:hasExactSynonym neoplasm of the ciliary body neoplasm of the ciliary body Neoplasm of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm confirmed neoplasm of the ciliary body NCIT:C4364 NCIT @@ -56487,7 +55304,6 @@ MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym neoplasm of the spinal c MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C3381 Spinal Cord Neoplasm confirmed spinal cord tumor NCIT:C3381 NCIT MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of spinal cord tumor of spinal cord Tumor of Spinal Cord NCIT:C3381 Spinal Cord Neoplasm confirmed tumor of spinal cord NCIT:C3381 NCIT MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm confirmed tumor of the spinal cord NCIT:C3381 NCIT -MONDO:0021234 spinal cord neoplasm oio:hasExactSynonym spinal cord tumor spinal cord tumor Spinal Cord Tumor NCIT:C9234 Childhood Spinal Cord Neoplasm confirmed spinal cord tumor NCIT:C9234 NCIT MONDO:0021235 external ear neoplasm oio:hasExactSynonym external Ear tumor external Ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm confirmed external Ear tumor NCIT:C4652 NCIT MONDO:0021235 external ear neoplasm oio:hasExactSynonym external ear tumor external ear tumor External Ear Tumor NCIT:C4652 External Ear Neoplasm confirmed external ear tumor NCIT:C4652 NCIT MONDO:0021235 external ear neoplasm oio:hasExactSynonym neoplasm of external Ear neoplasm of external Ear Neoplasm of External Ear NCIT:C4652 External Ear Neoplasm confirmed neoplasm of external Ear NCIT:C4652 NCIT @@ -56680,8 +55496,8 @@ MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epigl MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic carcinoma aJCC v8 stage 0 epiglottic carcinoma aJCC v8 Stage 0 Epiglottic Carcinoma AJCC v8 NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 confirmed stage 0 epiglottic carcinoma aJCC v8 NCIT:C4592 NCIT MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic throat cancer stage 0 epiglottic throat cancer Stage 0 Epiglottic Throat Cancer NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 confirmed stage 0 epiglottic throat cancer NCIT:C4592 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of hypopharynx carcinoma in situ of hypopharynx Carcinoma in situ of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of hypopharynx NCIT:C9101 NCIT -MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma in situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT +MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharyngeal carcinoma in situ hypopharyngeal carcinoma in situ Hypopharyngeal Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed hypopharyngeal carcinoma in situ NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharynx carcinoma in situ hypopharynx carcinoma in situ Hypopharynx Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed hypopharynx carcinoma in situ NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym stage 0 carcinoma of hypopharynx stage 0 carcinoma of hypopharynx Stage 0 Carcinoma of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed stage 0 carcinoma of hypopharynx NCIT:C9101 NCIT @@ -56807,9 +55623,6 @@ MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant neoplasm of the neck malignant neoplasm of the neck Malignant Neoplasm of the Neck NCIT:C4940 Malignant Neck Neoplasm confirmed malignant neoplasm of the neck NCIT:C4940 NCIT MONDO:0021310 malignant tumor of neck oio:hasExactSynonym malignant tumor of the neck malignant tumor of the neck Malignant Tumor of the Neck NCIT:C4940 Malignant Neck Neoplasm confirmed malignant tumor of the neck NCIT:C4940 NCIT MONDO:0021310 malignant tumor of neck oio:hasExactSynonym neck cancer neck cancer Neck Cancer NCIT:C4940 Malignant Neck Neoplasm confirmed neck cancer NCIT:C4940 NCIT -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma confirmed cancer of parathyroid gland NCIT:C4906 NCIT -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma confirmed parathyroid cancer NCIT:C4906 NCIT -MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma confirmed parathyroid gland cancer NCIT:C4906 NCIT MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid malignant neoplasm of parathyroid Malignant Neoplasm of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant neoplasm of parathyroid NCIT:C9322 NCIT MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant neoplasm of parathyroid gland NCIT:C9322 NCIT MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant neoplasm of the parathyroid NCIT:C9322 NCIT @@ -56821,7 +55634,6 @@ MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignan MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of parathyroid malignant tumor of parathyroid Malignant Tumor of Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant tumor of parathyroid NCIT:C9322 NCIT MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid malignant tumor of the parathyroid Malignant Tumor of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant tumor of the parathyroid NCIT:C9322 NCIT MONDO:0021311 malignant tumor of parathyroid gland oio:hasExactSynonym malignant tumor of the parathyroid gland malignant tumor of the parathyroid gland Malignant Tumor of the Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm confirmed malignant tumor of the parathyroid gland NCIT:C9322 NCIT -MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortex cancer NCIT:C9325 NCIT MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex neoplasm malignant adrenal cortex neoplasm Malignant Adrenal Cortex Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm confirmed malignant adrenal cortex neoplasm NCIT:C9327 NCIT MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenal cortex tumor malignant adrenal cortex tumor Malignant Adrenal Cortex Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm confirmed malignant adrenal cortex tumor NCIT:C9327 NCIT MONDO:0021312 malignant tumor of adrenal cortex oio:hasExactSynonym malignant adrenocortical neoplasm malignant adrenocortical neoplasm Malignant Adrenocortical Neoplasm NCIT:C9327 Malignant Adrenal Cortical Neoplasm confirmed malignant adrenocortical neoplasm NCIT:C9327 NCIT @@ -56834,8 +55646,6 @@ MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant eyelid tumor malignan MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of eyelid malignant neoplasm of eyelid Malignant Neoplasm of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm confirmed malignant neoplasm of eyelid NCIT:C6786 NCIT MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant neoplasm of the eyelid malignant neoplasm of the eyelid Malignant Neoplasm of the Eyelid NCIT:C6786 Malignant Eyelid Neoplasm confirmed malignant neoplasm of the eyelid NCIT:C6786 NCIT MONDO:0021313 eyelid cancer oio:hasExactSynonym malignant tumor of eyelid malignant tumor of eyelid Malignant Tumor of Eyelid NCIT:C6786 Malignant Eyelid Neoplasm confirmed malignant tumor of eyelid NCIT:C6786 NCIT -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym cancer of nasopharynx cancer of nasopharynx Cancer of Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma confirmed cancer of nasopharynx NCIT:C3871 NCIT -MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym nasopharynx cancer nasopharynx cancer Nasopharynx Cancer NCIT:C3871 Nasopharyngeal Carcinoma confirmed nasopharynx cancer NCIT:C3871 NCIT MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal neoplasm malignant nasopharyngeal neoplasm Malignant Nasopharyngeal Neoplasm NCIT:C9321 Malignant Nasopharyngeal Neoplasm confirmed malignant nasopharyngeal neoplasm NCIT:C9321 NCIT MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm confirmed malignant nasopharyngeal tumor NCIT:C9321 NCIT MONDO:0021315 malignant tumor of nasopharynx oio:hasExactSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm confirmed malignant neoplasm of nasopharynx NCIT:C9321 NCIT @@ -56865,7 +55675,6 @@ MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant f MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm confirmed malignant neoplasm of floor of mouth NCIT:C9318 NCIT MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant neoplasm of the floor of the mouth malignant neoplasm of the floor of the mouth Malignant Neoplasm of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm confirmed malignant neoplasm of the floor of the mouth NCIT:C9318 NCIT MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm confirmed malignant tumor of the floor of the mouth NCIT:C9318 NCIT -MONDO:0021320 malignant tumor of floor of mouth oio:hasExactSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma confirmed mouth floor cancer NCIT:C9319 NCIT MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct neoplasm malignant extrahepatic bile duct neoplasm Malignant Extrahepatic Bile Duct Neoplasm NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm confirmed malignant extrahepatic bile duct neoplasm NCIT:C7483 NCIT MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant extrahepatic bile duct tumor malignant extrahepatic bile duct tumor Malignant Extrahepatic Bile Duct Tumor NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm confirmed malignant extrahepatic bile duct tumor NCIT:C7483 NCIT MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym malignant neoplasm of extrahepatic bile duct malignant neoplasm of extrahepatic bile duct Malignant Neoplasm of Extrahepatic Bile Duct NCIT:C7483 Malignant Extrahepatic Bile Duct Neoplasm confirmed malignant neoplasm of extrahepatic bile duct NCIT:C7483 NCIT @@ -57108,10 +55917,10 @@ MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym tumor of the chest wal MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body neoplasm aortic body neoplasm Aortic Body Neoplasm NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body neoplasm NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic Body Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body paraganglioma NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic body paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body paraganglioma NCIT:C4218 NCIT -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body tumor NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic body tumor NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body tumor NCIT:C4218 NCIT -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aorticopulmonary paraganglioma NCIT:C4218 NCIT +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body tumor NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aorticopulmonary paraganglioma NCIT:C4218 NCIT +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aorticopulmonary paraganglioma NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of aortic body neoplasm of aortic body Neoplasm of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma confirmed neoplasm of aortic body NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym neoplasm of the aortic body neoplasm of the aortic body Neoplasm of the Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma confirmed neoplasm of the aortic body NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym paraganglioma of aortic body paraganglioma of aortic body Paraganglioma of Aortic Body NCIT:C4218 Aorticopulmonary Paraganglioma confirmed paraganglioma of aortic body NCIT:C4218 NCIT @@ -57891,7 +56700,6 @@ MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament ne MONDO:0021629 uterine ligament neoplasm oio:hasExactSynonym uterine ligament tumor uterine ligament tumor Uterine Ligament Tumor NCIT:C40133 Uterine Ligament Neoplasm confirmed uterine ligament tumor NCIT:C40133 NCIT MONDO:0021631 brain astrocytoma oio:hasExactSynonym brain astrocytoma brain astrocytoma Brain Astrocytoma NCIT:C60780 Brain Astrocytoma confirmed brain astrocytoma NCIT:C60780 NCIT MONDO:0021632 primary brain neoplasm oio:hasExactSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm confirmed primary brain neoplasm NCIT:C170814 NCIT -MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma confirmed cerebral astrocytoma NCIT:C4347 NCIT MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebral hemispheres astrocytoma of cerebral hemispheres Astrocytoma of Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma confirmed astrocytoma of cerebral hemispheres NCIT:C4951 NCIT MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma confirmed astrocytoma of cerebrum NCIT:C4951 NCIT MONDO:0021633 cerebral astrocytoma oio:hasExactSynonym astrocytoma of the cerebral hemispheres astrocytoma of the cerebral hemispheres Astrocytoma of the Cerebral Hemispheres NCIT:C4951 Cerebral Astrocytoma confirmed astrocytoma of the cerebral hemispheres NCIT:C4951 NCIT @@ -57905,8 +56713,6 @@ MONDO:0021634 epithelial skin neoplasm oio:hasExactSynonym skin epithelium tumo MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic neoplasm astrocytic neoplasm Astrocytic Neoplasm NCIT:C6958 Astrocytic Tumor confirmed astrocytic neoplasm NCIT:C6958 NCIT MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor confirmed astrocytic tumor NCIT:C6958 NCIT MONDO:0021636 astrocytic tumor oio:hasExactSynonym astroglioma astroglioma Astroglioma NCIT:C6958 Astrocytic Tumor confirmed astroglioma NCIT:C6958 NCIT -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor confirmed astrocytic tumor NCIT:C7049 NCIT -MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor confirmed astrocytic tumor NCIT:C9022 NCIT MONDO:0021637 low grade glioma oio:hasExactSynonym low grade glioma low grade glioma Low Grade Glioma NCIT:C132067 Low Grade Glioma confirmed low grade glioma NCIT:C132067 NCIT MONDO:0021637 low grade glioma oio:hasExactSynonym low-grade glioma low-grade glioma Low-Grade Glioma NCIT:C132067 Low Grade Glioma confirmed low-grade glioma NCIT:C132067 NCIT MONDO:0021638 low grade astrocytic tumor oio:hasExactSynonym low grade astrocytic neoplasm low grade astrocytic neoplasm Low Grade Astrocytic Neoplasm NCIT:C116342 Low Grade Astrocytoma confirmed low grade astrocytic neoplasm NCIT:C116342 NCIT @@ -57935,8 +56741,8 @@ MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex co MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym ovarian Sex cord-stromal tumor ovarian Sex cord-stromal tumor Ovarian Sex Cord-Stromal Tumor NCIT:C4862 Ovarian Sex Cord-Stromal Tumor confirmed ovarian Sex cord-stromal tumor NCIT:C4862 NCIT MONDO:0021657 ovarian sex cord-stromal tumor oio:hasExactSynonym sex cord-stromal tumor of ovary sex cord-stromal tumor of ovary Sex Cord-Stromal Tumor of Ovary NCIT:C4862 Ovarian Sex Cord-Stromal Tumor confirmed sex cord-stromal tumor of ovary NCIT:C4862 NCIT MONDO:0021658 vascular ectasia oio:hasExactSynonym vascular ectasia vascular ectasia Vascular Ectasia NCIT:C45481 Vascular Ectasia confirmed vascular ectasia NCIT:C45481 NCIT -MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed combined carcinoid and adenocarcinoma NCIT:C4139 NCIT MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined carcinoid and adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed combined carcinoid and adenocarcinoma NCIT:C4139 NCIT +MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid and adenocarcinoma combined carcinoid and adenocarcinoma Combined Carcinoid and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed combined carcinoid and adenocarcinoma NCIT:C4139 NCIT MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid neoplasm and adenocarcinoma combined carcinoid neoplasm and adenocarcinoma Combined Carcinoid Neoplasm and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed combined carcinoid neoplasm and adenocarcinoma NCIT:C4139 NCIT MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym combined carcinoid tumor and adenocarcinoma combined carcinoid tumor and adenocarcinoma Combined Carcinoid Tumor and Adenocarcinoma NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed combined carcinoid tumor and adenocarcinoma NCIT:C4139 NCIT MONDO:0021659 combined carcinoid and adenocarcinoma oio:hasExactSynonym composite carcinoid neoplasm composite carcinoid neoplasm Composite Carcinoid Neoplasm NCIT:C4139 Combined Carcinoid and Adenocarcinoma confirmed composite carcinoid neoplasm NCIT:C4139 NCIT @@ -57949,8 +56755,8 @@ MONDO:0021662 bile duct neoplasm oio:hasExactSynonym intrahepatic and extrahepa MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym epidermoid spindle cell carcinoma epidermoid spindle cell carcinoma Epidermoid Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed epidermoid spindle cell carcinoma NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym sarcomatoid squamous cell carcinoma sarcomatoid squamous cell carcinoma Sarcomatoid Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed sarcomatoid squamous cell carcinoma NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 NCIT -MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous Cell Carcinoma, Sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT +MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous cell carcinoma, spindle cell NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, spindle cell NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous Cell Carcinoma, Spindle Cell NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, spindle cell NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell spindle cell carcinoma squamous cell spindle cell carcinoma Squamous Cell Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell spindle cell carcinoma NCIT:C27084 NCIT @@ -58001,8 +56807,8 @@ MONDO:0022022 bowenoid papulosis oio:hasExactSynonym Bowenoid papulosis Bowenoi MONDO:0022022 bowenoid papulosis oio:hasExactSynonym bowenoid papulosis bowenoid papulosis Bowenoid Papulosis NCIT:C8374 Bowenoid Papulosis confirmed bowenoid papulosis NCIT:C8374 NCIT MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor Pindborg tumor Pindborg Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor confirmed Pindborg tumor NCIT:C54301 NCIT MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym Pindborg tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor confirmed Pindborg tumor NCIT:C54301 NCIT -MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor confirmed calcifying epithelial odontogenic tumor NCIT:C54301 NCIT MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying epithelial odontogenic tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor confirmed calcifying epithelial odontogenic tumor NCIT:C54301 NCIT +MONDO:0022057 calcifying epithelial odontogenic tumor oio:hasExactSynonym calcifying epithelial odontogenic tumor calcifying epithelial odontogenic tumor Calcifying Epithelial Odontogenic Tumor NCIT:C54301 Calcifying Epithelial Odontogenic Tumor confirmed calcifying epithelial odontogenic tumor NCIT:C54301 NCIT MONDO:0022103 chronic prostatitis oio:hasExactSynonym chronic prostatitis chronic prostatitis Chronic Prostatitis NCIT:C26930 Chronic Prostatitis confirmed chronic prostatitis NCIT:C26930 NCIT MONDO:0022220 Parinaud syndrome oio:hasExactSynonym Parinaud syndrome Parinaud syndrome Parinaud Syndrome NCIT:C54102 Parinaud Syndrome confirmed Parinaud syndrome NCIT:C54102 NCIT MONDO:0022293 vascular disorder of penis oio:hasExactSynonym penile vascular disorder penile vascular disorder Penile Vascular Disorder NCIT:C35218 Penile Vascular Disorder confirmed penile vascular disorder NCIT:C35218 NCIT @@ -58032,8 +56838,8 @@ MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplast MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic infantile astrocytoma NCIT:C9476 NCIT MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma Desmoplastic infantile astrocytoma Desmoplastic Infantile Astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic infantile astrocytoma NCIT:C9476 NCIT MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym DIA NCIT:C9476 Desmoplastic Infantile Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIA NCIT:C9476 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma confirmed Desmoplastic infantile ganglioglioma NCIT:C4738 NCIT MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma confirmed Desmoplastic infantile ganglioglioma NCIT:C4738 NCIT +MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma confirmed Desmoplastic infantile ganglioglioma NCIT:C4738 NCIT MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym DIG NCIT:C4738 Desmoplastic Infantile Ganglioglioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIG NCIT:C4738 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym diffuse idiopathic pulmonary neuroendocrine cell hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia confirmed diffuse idiopathic pulmonary neuroendocrine cell hyperplasia NCIT:C7437 NCIT MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oio:hasExactSynonym DIPNECH NCIT:C7437 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIPNECH NCIT:C7437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -58169,8 +56975,6 @@ MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal Ear neoplasm inte MONDO:0024320 inner ear neoplasm oio:hasExactSynonym internal ear neoplasm internal ear neoplasm Internal Ear Neoplasm NCIT:C39784 Inner Ear Neoplasm confirmed internal ear neoplasm NCIT:C39784 NCIT MONDO:0024323 glomangiomyoma oio:hasExactSynonym glomangiomyoma glomangiomyoma Glomangiomyoma NCIT:C4223 Glomangiomyoma confirmed glomangiomyoma NCIT:C4223 NCIT MONDO:0024326 pleural adenomatoid tumor oio:hasExactSynonym pleural adenomatoid tumor pleural adenomatoid tumor Pleural Adenomatoid Tumor NCIT:C4499 Pleural Adenomatoid Tumor confirmed pleural adenomatoid tumor NCIT:C4499 NCIT -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C80078 Chronic Kidney Disease confirmed Chronic renal disease NCIT:C80078 NCIT -MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C80078 Chronic Kidney Disease confirmed chronic renal failure NCIT:C80078 NCIT MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym CRF - chronic renal failure CRF - chronic renal failure CRF - Chronic Renal Failure NCIT:C9438 Chronic Renal Failure confirmed CRF - chronic renal failure NCIT:C9438 NCIT MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym Chronic renal disease Chronic renal disease Chronic Renal Disease NCIT:C9438 Chronic Renal Failure confirmed Chronic renal disease NCIT:C9438 NCIT MONDO:0024327 chronic renal failure syndrome oio:hasExactSynonym chronic renal failure chronic renal failure Chronic Renal Failure NCIT:C9438 Chronic Renal Failure confirmed chronic renal failure NCIT:C9438 NCIT @@ -58269,8 +57073,8 @@ MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 grade 2 GRADE 2 NCIT:C28078 Grade 2 confirmed grade 2 NCIT:C28078 NCIT MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade II grade II Grade II NCIT:C28078 Grade 2 confirmed grade II NCIT:C28078 NCIT MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym G2 NCIT:C28078 Grade 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed G2 NCIT:C28078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 confirmed grade 3 NCIT:C28079 NCIT MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 Grade 3 NCIT:C28079 Grade 3 confirmed grade 3 NCIT:C28079 NCIT +MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade 3 grade 3 GRADE 3 NCIT:C28079 Grade 3 confirmed grade 3 NCIT:C28079 NCIT MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym grade III grade III Grade III NCIT:C28079 Grade 3 confirmed grade III NCIT:C28079 NCIT MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym G3 NCIT:C28079 Grade 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed G3 NCIT:C28079 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym grade 4 grade 4 Grade 4 NCIT:C28082 Grade 4 confirmed grade 4 NCIT:C28082 NCIT @@ -58294,8 +57098,6 @@ MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym dige MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastroenteropancreatic neuroendocrine neoplasm gastroenteropancreatic neuroendocrine neoplasm Gastroenteropancreatic Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm confirmed gastroenteropancreatic neuroendocrine neoplasm NCIT:C27721 NCIT MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal neuroendocrine neoplasm gastrointestinal neuroendocrine neoplasm Gastrointestinal Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm confirmed gastrointestinal neuroendocrine neoplasm NCIT:C27721 NCIT MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym gastrointestinal system neuroendocrine neoplasm gastrointestinal system neuroendocrine neoplasm Gastrointestinal System Neuroendocrine Neoplasm NCIT:C27721 Digestive System Neuroendocrine Neoplasm confirmed gastrointestinal system neuroendocrine neoplasm NCIT:C27721 NCIT -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor confirmed digestive system NET NCIT:C95404 NCIT -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor confirmed digestive system neuroendocrine tumor NCIT:C95404 NCIT MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic NET EC cell, serotonin producing pancreatic NET EC Cell, Serotonin Producing Pancreatic NET NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor confirmed EC cell, serotonin producing pancreatic NET NCIT:C4446 NCIT MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym EC cell, serotonin producing pancreatic neuroendocrine tumor EC cell, serotonin producing pancreatic neuroendocrine tumor EC Cell, Serotonin Producing Pancreatic Neuroendocrine Tumor NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor confirmed EC cell, serotonin producing pancreatic neuroendocrine tumor NCIT:C4446 NCIT MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym carcinoid tumor of pancreas carcinoid tumor of pancreas Carcinoid Tumor of Pancreas NCIT:C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor confirmed carcinoid tumor of pancreas NCIT:C4446 NCIT @@ -58455,9 +57257,6 @@ MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym d MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym diffuse tenosynovial giant cell tumor diffuse tenosynovial giant cell tumor Diffuse Tenosynovial Giant Cell Tumor NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type confirmed diffuse tenosynovial giant cell tumor NCIT:C3401 NCIT MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym pigmented villonodular synovitis pigmented villonodular synovitis Pigmented Villonodular Synovitis NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type confirmed pigmented villonodular synovitis NCIT:C3401 NCIT MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym tenosynovial giant cell tumor, diffuse type tenosynovial giant cell tumor, diffuse type Tenosynovial Giant Cell Tumor, Diffuse Type NCIT:C3401 Tenosynovial Giant Cell Tumor, Diffuse Type confirmed tenosynovial giant cell tumor, diffuse type NCIT:C3401 NCIT -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed Tenosynovial Giant Cell Tumor NCIT:C3402 NCIT -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed Tenosynovial Giant Cell Tumor NCIT:C3402 NCIT -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym TGCT NCIT:C8591 Testicular Germ Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TGCT NCIT:C8591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant MEST malignant MEST Malignant MEST NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney confirmed malignant MEST NCIT:C37265 NCIT MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney oio:hasExactSynonym malignant mixed epithelial stromal tumor of the kidney malignant mixed epithelial stromal tumor of the kidney Malignant Mixed Epithelial Stromal Tumor of the Kidney NCIT:C37265 Malignant Mixed Epithelial and Stromal Tumor of the Kidney confirmed malignant mixed epithelial stromal tumor of the kidney NCIT:C37265 NCIT MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign neoplasm of synovium benign neoplasm of synovium Benign Neoplasm of Synovium NCIT:C3829 Benign Synovial Neoplasm confirmed benign neoplasm of synovium NCIT:C3829 NCIT @@ -58499,8 +57298,8 @@ MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of clitoris carc MONDO:0024873 clitoral carcinoma oio:hasExactSynonym carcinoma of the clitoris carcinoma of the clitoris Carcinoma of the Clitoris NCIT:C9362 Clitoral Carcinoma confirmed carcinoma of the clitoris NCIT:C9362 NCIT MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoral carcinoma clitoral carcinoma Clitoral Carcinoma NCIT:C9362 Clitoral Carcinoma confirmed clitoral carcinoma NCIT:C9362 NCIT MONDO:0024873 clitoral carcinoma oio:hasExactSynonym clitoris carcinoma clitoris carcinoma Clitoris Carcinoma NCIT:C9362 Clitoral Carcinoma confirmed clitoris carcinoma NCIT:C9362 NCIT -MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma confirmed secondary carcinoma NCIT:C36310 NCIT MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary carcinoma NCIT:C36310 Secondary Carcinoma confirmed secondary carcinoma NCIT:C36310 NCIT +MONDO:0024878 secondary carcinoma oio:hasExactSynonym secondary carcinoma secondary carcinoma Secondary Carcinoma NCIT:C36310 Secondary Carcinoma confirmed secondary carcinoma NCIT:C36310 NCIT MONDO:0024879 metastatic carcinoma oio:hasExactSynonym metastatic carcinoma metastatic carcinoma Metastatic Carcinoma NCIT:C3482 Metastatic Carcinoma confirmed metastatic carcinoma NCIT:C3482 NCIT MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic cancer metastatic cancer Metastatic Cancer NCIT:C36263 Metastatic Malignant Neoplasm confirmed metastatic cancer NCIT:C36263 NCIT MONDO:0024880 metastatic malignant neoplasm oio:hasExactSynonym metastatic malignant neoplasm metastatic malignant neoplasm Metastatic Malignant Neoplasm NCIT:C36263 Metastatic Malignant Neoplasm confirmed metastatic malignant neoplasm NCIT:C36263 NCIT @@ -58527,16 +57326,15 @@ MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic n MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm confirmed pineocytic tumor NCIT:C6965 NCIT MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of pineal gland tumor of pineal gland Tumor of Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm confirmed tumor of pineal gland NCIT:C6965 NCIT MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym tumor of the pineal gland tumor of the pineal gland Tumor of the Pineal Gland NCIT:C6965 Pineal Parenchymal Cell Neoplasm confirmed tumor of the pineal gland NCIT:C6965 NCIT -MONDO:0024890 pineal parenchymal cell neoplasm oio:hasExactSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm confirmed pineal parenchymal cell tumor NCIT:C8273 NCIT MONDO:0026777 VEXAS syndrome oio:hasExactSynonym vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome NCIT:C181924 VEXAS Syndrome confirmed vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome NCIT:C181924 NCIT MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung colloid adenocarcinoma lung colloid adenocarcinoma Lung Colloid Adenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma confirmed lung colloid adenocarcinoma NCIT:C45512 NCIT MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung mucinous cystadenocarcinoma lung mucinous cystadenocarcinoma Lung Mucinous Cystadenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma confirmed lung mucinous cystadenocarcinoma NCIT:C45512 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic Partially Differentiated Nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed cystic partially differentiated nephroblastoma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic partially differentiated nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed cystic partially differentiated nephroblastoma NCIT:C6897 NCIT -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant multilocular cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT MONDO:0030705 Trichomonas prostatitis oio:hasExactSynonym Trichomonas prostatitis Trichomonas prostatitis Trichomonas Prostatitis NCIT:C35176 Trichomonas Prostatitis confirmed Trichomonas prostatitis NCIT:C35176 NCIT MONDO:0030706 Trichomonas cystitis oio:hasExactSynonym Trichomonas cystitis Trichomonas cystitis Trichomonas Cystitis NCIT:C35405 Trichomonas Cystitis confirmed Trichomonas cystitis NCIT:C35405 NCIT MONDO:0030707 Trichomonas balanoposthitis oio:hasExactSynonym Trichomonas balanoposthitis Trichomonas balanoposthitis Trichomonas Balanoposthitis NCIT:C35406 Trichomonas Balanoposthitis confirmed Trichomonas balanoposthitis NCIT:C35406 NCIT @@ -58593,8 +57391,8 @@ MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of ep MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of the epithelium benign tumor of the epithelium Benign Tumor of the Epithelium NCIT:C4092 Benign Epithelial Neoplasm confirmed benign tumor of the epithelium NCIT:C4092 NCIT MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign Epithelioma, benign NCIT:C4092 Benign Epithelial Neoplasm confirmed epithelioma, benign NCIT:C4092 NCIT MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign EPITHELIOMA, BENIGN NCIT:C4092 Benign Epithelial Neoplasm confirmed epithelioma, benign NCIT:C4092 NCIT -MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor confirmed Leydig cell tumor, benign NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign Leydig cell tumor, benign LEYDIG CELL TUMOR, BENIGN NCIT:C4212 Benign Leydig Cell Tumor confirmed Leydig cell tumor, benign NCIT:C4212 NCIT +MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor confirmed Leydig cell tumor, benign NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym adenoma, interstitial adenoma, interstitial Adenoma, Interstitial NCIT:C4212 Benign Leydig Cell Tumor confirmed adenoma, interstitial NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell neoplasm benign Leydig cell neoplasm Benign Leydig Cell Neoplasm NCIT:C4212 Benign Leydig Cell Tumor confirmed benign Leydig cell neoplasm NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym benign Leydig cell tumor benign Leydig cell tumor Benign Leydig Cell Tumor NCIT:C4212 Benign Leydig Cell Tumor confirmed benign Leydig cell tumor NCIT:C4212 NCIT @@ -58705,7 +57503,6 @@ MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym me MONDO:0041447 metastatic malignant neoplasm in the colon oio:hasExactSynonym metastatic tumor to the colon metastatic tumor to the colon Metastatic Tumor to the Colon NCIT:C8411 Metastatic Malignant Neoplasm in the Colon confirmed metastatic tumor to the colon NCIT:C8411 NCIT MONDO:0042233 disseminated candidiasis oio:hasExactSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis confirmed disseminated candidiasis NCIT:C116812 NCIT MONDO:0042485 infective arthritis oio:hasExactSynonym infective arthritis infective arthritis Infective Arthritis NCIT:C26700 Infective Arthritis confirmed infective arthritis NCIT:C26700 NCIT -MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous intraepithelial neoplasia, grade III NCIT:C27093 NCIT MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN 3 aJCC v6 CIN 3 aJCC v6 CIN 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed CIN 3 aJCC v6 NCIT:C4000 NCIT MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym CIN grade 3 aJCC v6 CIN grade 3 aJCC v6 CIN Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed CIN grade 3 aJCC v6 NCIT:C4000 NCIT MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym FIGO stage 0 carcinoma of cervix FIGO stage 0 carcinoma of cervix FIGO Stage 0 Carcinoma of Cervix NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed FIGO stage 0 carcinoma of cervix NCIT:C4000 NCIT @@ -58753,7 +57550,6 @@ MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym stage 0 cerv MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix Severe dysplasia aJCC v6 uterine cervix Severe dysplasia aJCC v6 Uterine Cervix Severe Dysplasia AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed uterine cervix Severe dysplasia aJCC v6 NCIT:C4000 NCIT MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix carcinoma in situ aJCC v6 uterine cervix carcinoma in situ aJCC v6 Uterine Cervix Carcinoma in situ AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed uterine cervix carcinoma in situ aJCC v6 NCIT:C4000 NCIT MONDO:0042487 uterine cervix carcinoma in situ oio:hasExactSynonym uterine cervix intraepithelial neoplasia grade 3 aJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 Uterine Cervix Intraepithelial Neoplasia Grade 3 AJCC v6 NCIT:C4000 Stage 0 Cervical Cancer AJCC v6 confirmed uterine cervix intraepithelial neoplasia grade 3 aJCC v6 NCIT:C4000 NCIT -MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym CIN NCIT:C3782 Cervical Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIN NCIT:C3782 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical sil cervical sil Cervical SIL NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia confirmed cervical sil NCIT:C7346 NCIT MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial lesion cervical squamous intraepithelial lesion Cervical Squamous Intraepithelial Lesion NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia confirmed cervical squamous intraepithelial lesion NCIT:C7346 NCIT MONDO:0042491 cervical squamous intraepithelial neoplasia oio:hasExactSynonym cervical squamous intraepithelial neoplasia cervical squamous intraepithelial neoplasia Cervical Squamous Intraepithelial Neoplasia NCIT:C7346 Cervical Squamous Intraepithelial Neoplasia confirmed cervical squamous intraepithelial neoplasia NCIT:C7346 NCIT @@ -58812,8 +57608,8 @@ MONDO:0043310 amaurosis fugax oio:hasExactSynonym amaurosis fugax amaurosis fug MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis muscle syndrome piriformis muscle syndrome Piriformis Muscle Syndrome NCIT:C85012 Piriformis Muscle Syndrome confirmed piriformis muscle syndrome NCIT:C85012 NCIT MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis syndrome piriformis syndrome Piriformis Syndrome NCIT:C85012 Piriformis Muscle Syndrome confirmed piriformis syndrome NCIT:C85012 NCIT MONDO:0043346 progressive transformation of germinal centers oio:hasExactSynonym progressive transformation of Germinal centers progressive transformation of Germinal centers Progressive Transformation of Germinal Centers NCIT:C38408 Progressive Transformation of Germinal Centers confirmed progressive transformation of Germinal centers NCIT:C38408 NCIT -MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT +MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson pseudotumor Masson pseudotumor Masson Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson pseudotumor NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudosarcoma Masson's pseudosarcoma Masson's Pseudosarcoma NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson's pseudosarcoma NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudotumor Masson's pseudotumor Masson's Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson's pseudotumor NCIT:C4391 NCIT @@ -59017,7 +57813,6 @@ MONDO:0044768 vagus nerve paraganglioma oio:hasExactSynonym vagus nerve paragan MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma confirmed nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 NCIT MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin's lymphoma nodular lymphocyte predominant Hodgkin's lymphoma Nodular Lymphocyte Predominant Hodgkin's Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma confirmed nodular lymphocyte predominant Hodgkin's lymphoma NCIT:C7258 NCIT MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym NLPHL NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NLPHL NCIT:C7258 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma confirmed nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 NCIT MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym nephrotic syndrome of childhood - steroid sensitive nephrotic syndrome of childhood - steroid sensitive Nephrotic Syndrome of Childhood - Steroid Sensitive NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive confirmed nephrotic syndrome of childhood - steroid sensitive NCIT:C122797 NCIT MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-responsive nephrotic syndrome steroid-responsive nephrotic syndrome Steroid-Responsive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive confirmed steroid-responsive nephrotic syndrome NCIT:C122797 NCIT MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive oio:hasExactSynonym steroid-sensitive nephrotic syndrome steroid-sensitive nephrotic syndrome Steroid-Sensitive Nephrotic Syndrome NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive confirmed steroid-sensitive nephrotic syndrome NCIT:C122797 NCIT @@ -59041,8 +57836,8 @@ MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasEx MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym Mixed hepatocellular cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma Mixed Hepatocellular Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed Mixed hepatocellular cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym carcinoma of the liver and intrahepatic biliary tract carcinoma of the liver and intrahepatic biliary tract Carcinoma of the Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed carcinoma of the liver and intrahepatic biliary tract NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) Combined Hepatocellular Cancer and Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C3828 NCIT -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevi congenital melanocytic nevi Congenital Melanocytic Nevi NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevi NCIT:C3944 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus congenital melanocytic nevus Congenital Melanocytic Nevus NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevus NCIT:C3944 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus of skin congenital melanocytic nevus of skin Congenital Melanocytic Nevus of Skin NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevus of skin NCIT:C3944 NCIT @@ -59083,13 +57878,11 @@ MONDO:0044817 acquired idiopathic torsion dystonia oio:hasExactSynonym non-Fami MONDO:0044872 dysautonomia oio:hasExactSynonym dysautonomia dysautonomia Dysautonomia NCIT:C53439 Dysautonomia confirmed dysautonomia NCIT:C53439 NCIT MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood MDS childhood MDS Childhood MDS NCIT:C68744 Childhood Myelodysplastic Syndrome confirmed childhood MDS NCIT:C68744 NCIT MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood myelodysplastic syndrome childhood myelodysplastic syndrome Childhood Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome confirmed childhood myelodysplastic syndrome NCIT:C68744 NCIT -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory Cytopenia of Childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT +MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym coronary microvascular disease coronary microvascular disease Coronary Microvascular Disease NCIT:C84478 Coronary Microvascular Disease confirmed coronary microvascular disease NCIT:C84478 NCIT MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84609 Campomelic Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD NCIT:C84609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0044877 paraneoplastic cerebellar degeneration oio:hasExactSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic Cerebellar Degeneration NCIT:C4685 Paraneoplastic Cerebellar Degeneration confirmed paraneoplastic cerebellar degeneration NCIT:C4685 NCIT MONDO:0044878 adult germ cell tumor oio:hasExactSynonym Adult germ cell tumor Adult germ cell tumor Adult Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor confirmed Adult germ cell tumor NCIT:C114777 NCIT MONDO:0044879 pancreatic mucinous-cystic neoplasm oio:hasExactSynonym Pancreatic mucinous cystic neoplasm Pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm confirmed Pancreatic mucinous cystic neoplasm NCIT:C41247 NCIT @@ -59153,11 +57946,9 @@ MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-Lymphoblastic lymp MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-lymphoblastic lymphoma T-lymphoblastic lymphoma T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed T-lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T Lymphoblastic lymphoma precursor T Lymphoblastic lymphoma Precursor T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-Lymphoblastic lymphoma precursor T-Lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-Lymphoblastic lymphoma NCIT:C6919 NCIT -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-cell lymphoblastic lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT +MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-lymphoblastic lymphoma NCIT:C6919 NCIT -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T Lymphoblastic lymphoma T Lymphoblastic lymphoma T Lymphoblastic Lymphoma NCIT:C7210 Childhood T Lymphoblastic Lymphoma confirmed T Lymphoblastic lymphoma NCIT:C7210 NCIT -MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma confirmed renal pelvis cancer NCIT:C6142 NCIT MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant neoplasm of renal pelvis NCIT:C7525 NCIT MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of the renal pelvis malignant neoplasm of the renal pelvis Malignant Neoplasm of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant neoplasm of the renal pelvis NCIT:C7525 NCIT MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant renal pelvis neoplasm NCIT:C7525 NCIT @@ -59166,8 +57957,8 @@ MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tum MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tumor of the renal pelvis malignant tumor of the renal pelvis Malignant Tumor of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant tumor of the renal pelvis NCIT:C7525 NCIT MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoid hyperplasia atypical lymphoid hyperplasia Atypical Lymphoid Hyperplasia NCIT:C7764 Atypical Lymphoproliferative Disorder confirmed atypical lymphoid hyperplasia NCIT:C7764 NCIT MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoproliferative disorder atypical lymphoproliferative disorder Atypical Lymphoproliferative Disorder NCIT:C7764 Atypical Lymphoproliferative Disorder confirmed atypical lymphoproliferative disorder NCIT:C7764 NCIT -MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT +MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym NPMc+ AML NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed NPMc+ AML NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with cytoplasmic nucleophosmin acute myeloid leukemia with cytoplasmic nucleophosmin Acute Myeloid Leukemia with Cytoplasmic Nucleophosmin NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with cytoplasmic nucleophosmin NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute myeloid leukemia with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with mutated NPM1 NCIT:C82431 NCIT @@ -59255,8 +58046,8 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054868 meconium ileus oio:hasExactSynonym meconium ileus meconium ileus Meconium Ileus NCIT:C98979 Meconium Ileus confirmed meconium ileus NCIT:C98979 NCIT MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Del Castillo syndrome Del Castillo syndrome Del Castillo Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome confirmed Del Castillo syndrome NCIT:C168988 NCIT MONDO:0056795 X-linked spermatogenic failure 1 oio:hasExactSynonym Sertoli cell-only syndrome Sertoli cell-only syndrome Sertoli Cell-Only Syndrome NCIT:C168988 Sertoli Cell-Only Syndrome confirmed Sertoli cell-only syndrome NCIT:C168988 NCIT -MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy confirmed obstructive nephropathy NCIT:C120902 NCIT MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy Obstructive Nephropathy NCIT:C120902 Obstructive Nephropathy confirmed obstructive nephropathy NCIT:C120902 NCIT +MONDO:0056796 obstructive nephropathy oio:hasExactSynonym obstructive nephropathy obstructive nephropathy OBSTRUCTIVE NEPHROPATHY NCIT:C120902 Obstructive Nephropathy confirmed obstructive nephropathy NCIT:C120902 NCIT MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of peripheral nerve benign granular cell neoplasm of peripheral nerve Benign Granular Cell Neoplasm of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor confirmed benign granular cell neoplasm of peripheral nerve NCIT:C5502 NCIT MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell neoplasm of the peripheral nerve benign granular cell neoplasm of the peripheral nerve Benign Granular Cell Neoplasm of the Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor confirmed benign granular cell neoplasm of the peripheral nerve NCIT:C5502 NCIT MONDO:0056805 benign peripheral nerve granular cell tumor oio:hasExactSynonym benign granular cell tumor of peripheral nerve benign granular cell tumor of peripheral nerve Benign Granular Cell Tumor of Peripheral Nerve NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor confirmed benign granular cell tumor of peripheral nerve NCIT:C5502 NCIT @@ -59364,8 +58155,8 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 NCIT:C85049 Long QT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia confirmed Friedreich's Ataxia NCIT:C84718 NCIT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's ataxia Friedreich's ataxia Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia confirmed Friedreich's ataxia NCIT:C84718 NCIT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich ataxia Friedreich ataxia Friedreich Ataxia NCIT:C84718 Friedreich Ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Friedreich ataxia NCIT:C84718 NCIT -MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant GLIOMA, MALIGNANT NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT +MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym high grade glioma high grade glioma High Grade Glioma NCIT:C4822 Malignant Glioma confirmed high grade glioma NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym high-grade glioma high-grade glioma High-Grade Glioma NCIT:C4822 Malignant Glioma confirmed high-grade glioma NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym malignant glial neoplasm malignant glial neoplasm Malignant Glial Neoplasm NCIT:C4822 Malignant Glioma confirmed malignant glial neoplasm NCIT:C4822 NCIT @@ -59382,7 +58173,6 @@ MONDO:0100470 reactive airway disease oio:hasExactSynonym hyperactive airway di MONDO:0100470 reactive airway disease oio:hasExactSynonym reactive airway disease (AQ) reactive airway disease (AQ) Reactive Airway Disease (AQ) NCIT:C113673 Reactive Airway Disease confirmed reactive airway disease (AQ) NCIT:C113673 NCIT MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison's disease autoimmune Addison's disease Autoimmune Addison's Disease NCIT:C113814 Autoimmune Primary Adrenal Insufficiency confirmed autoimmune Addison's disease NCIT:C113814 NCIT MONDO:0100482 extensively drug-resistant tuberculosis oio:hasExactSynonym XDR-TB NCIT:C128417 Extensively Drug-Resistant Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XDR-TB NCIT:C128417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome confirmed Bonnevie-Ullrich syndrome NCIT:C26900 NCIT MONDO:0100492 Bonnevie-Ullrich syndrome oio:hasExactSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome confirmed Bonnevie-Ullrich syndrome NCIT:C34434 NCIT MONDO:0100505 food dermatitis oio:hasExactSynonym dermatitis due to food taken internally dermatitis due to food taken internally Dermatitis due to Food taken Internally NCIT:C34534 Dermatitis due to Food taken Internally confirmed dermatitis due to food taken internally NCIT:C34534 NCIT MONDO:0100514 familial ovarian carcinoma oio:hasExactSynonym familial ovarian carcinoma familial ovarian carcinoma Familial Ovarian Carcinoma NCIT:C36102 Hereditary Ovarian Carcinoma confirmed familial ovarian carcinoma NCIT:C36102 NCIT @@ -59422,16 +58212,6 @@ MONDO:8000010 antiphospholipid syndrome oio:hasExactSynonym antiphospholipid sy MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym oio:hasRelatedSynonym NLS NCIT:C14089 Nuclear Localization Signal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000102 updated NLS NCIT:C14089 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant interstitial cell tumor malignant interstitial cell tumor Malignant Interstitial Cell Tumor NCIT:C4213 Malignant Leydig Cell Tumor DOID:0050616 updated malignant interstitial cell tumor NCIT:C4213 NCIT MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym paranasal sinus cancer paranasal sinus cancer Paranasal Sinus Cancer NCIT:C6014 Paranasal Sinus Carcinoma MONDO:patterns/location, NCIT:C6014 updated paranasal sinus cancer NCIT:C6014 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mucoepidermoid carcinoma of accessory sinus mucoepidermoid carcinoma of accessory sinus Mucoepidermoid Carcinoma of Accessory Sinus NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 updated mucoepidermoid carcinoma of accessory sinus NCIT:C6018 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus mucoepidermoid carcinoma paranasal sinus mucoepidermoid carcinoma Paranasal Sinus Mucoepidermoid Carcinoma NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma DOID:0050619 updated paranasal sinus mucoepidermoid carcinoma NCIT:C6018 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 updated adenoid cystic carcinoma of accessory sinus NCIT:C6019 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of paranasal sinus adenoid cystic carcinoma of paranasal sinus Adenoid Cystic Carcinoma of Paranasal Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 updated adenoid cystic carcinoma of paranasal sinus NCIT:C6019 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma Paranasal Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma DOID:0050619 updated paranasal sinus adenoid cystic carcinoma NCIT:C6019 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of paranasal sinus malignant neoplasm of paranasal sinus Malignant Neoplasm of Paranasal Sinus NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer updated malignant neoplasm of paranasal sinus NCIT:C7487 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant paranasal sinus neoplasm malignant paranasal sinus neoplasm Malignant Paranasal Sinus Neoplasm NCIT:C7487 Malignant Paranasal Sinus Neoplasm MONDO:patterns/cancer updated malignant paranasal sinus neoplasm NCIT:C7487 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym epidermoid carcinoma of the paranasal sinus epidermoid carcinoma of the paranasal sinus Epidermoid Carcinoma of the Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 updated epidermoid carcinoma of the paranasal sinus NCIT:C8193 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym paranasal sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma Paranasal Sinus Squamous Cell Carcinoma NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 updated paranasal sinus squamous cell carcinoma NCIT:C8193 NCIT -MONDO:0000380 paranasal sinus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus Squamous Cell Carcinoma of Paranasal Sinus NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma DOID:0050619 updated squamous cell carcinoma of paranasal sinus NCIT:C8193 NCIT MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system NET digestive system NET Digestive System NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated digestive system NET NCIT:C95404 NCIT MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system neuroendocrine tumor digestive system neuroendocrine tumor Digestive System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated digestive system neuroendocrine tumor NCIT:C95404 NCIT MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym digestive system well differentiated neuroendocrine tumor digestive system well differentiated neuroendocrine tumor Digestive System Well Differentiated Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated digestive system well differentiated neuroendocrine tumor NCIT:C95404 NCIT @@ -59440,150 +58220,57 @@ MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynon MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal NET gastrointestinal NET Gastrointestinal NET NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated gastrointestinal NET NCIT:C95404 NCIT MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal neuroendocrine tumor gastrointestinal neuroendocrine tumor Gastrointestinal Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated gastrointestinal neuroendocrine tumor NCIT:C95404 NCIT MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 oio:hasExactSynonym oio:hasBroadSynonym gastrointestinal system neuroendocrine tumor gastrointestinal system neuroendocrine tumor Gastrointestinal System Neuroendocrine Tumor NCIT:C95404 Digestive System Neuroendocrine Tumor NCIT:C95404 updated gastrointestinal system neuroendocrine tumor NCIT:C95404 NCIT -MONDO:0000408 fetal alcohol spectrum disorder oio:hasExactSynonym oio:hasRelatedSynonym fetal alcohol syndrome fetal alcohol syndrome Fetal Alcohol Syndrome NCIT:C84713 Fetal Alcohol Syndrome MESH:D063647 updated fetal alcohol syndrome NCIT:C84713 NCIT MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasNarrowSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar Ataxia NCIT:C82341 Spinocerebellar Ataxia updated spinocerebellar ataxia NCIT:C82341 NCIT -MONDO:0000448 paraganglioma oio:hasExactSynonym oio:hasNarrowSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma DOID:0050773 updated chemodectoma NCIT:C2932 NCIT MONDO:0000481 cervical dystonia oio:hasExactSynonym oio:hasRelatedSynonym spasmodic torticollis spasmodic torticollis Spasmodic Torticollis NCIT:C85072 Spasmodic Torticollis DOID:0050840 updated spasmodic torticollis NCIT:C85072 NCIT MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C136486 Lung Adenocarcinoma In Situ NCIT:C136486 updated bronchioloalveolar carcinoma NCIT:C136486 NCIT -MONDO:0000503 lung adenocarcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym bronchioloalveolar carcinoma bronchioloalveolar carcinoma Bronchioloalveolar Carcinoma NCIT:C2923 Minimally Invasive Lung Adenocarcinoma NCIT:C136486 updated bronchioloalveolar carcinoma NCIT:C2923 NCIT -MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C3811 Malignant Salivary Gland Neoplasm NCIT:C9272 updated salivary gland cancer NCIT:C3811 NCIT MONDO:0000521 salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym salivary gland cancer salivary gland cancer Salivary Gland Cancer NCIT:C9272 Salivary Gland Carcinoma NCIT:C9272 updated salivary gland cancer NCIT:C9272 NCIT -MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym allergic reaction allergic reaction Allergic Reaction NCIT:C114476 Allergic Reaction NCIT:C3114 updated allergic reaction NCIT:C114476 NCIT MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitive sensitive Sensitive NCIT:C3114 Hypersensitivity NCIT:C3114 updated sensitive NCIT:C3114 NCIT MONDO:0000605 hypersensitivity reaction disease oio:hasExactSynonym oio:hasBroadSynonym sensitivity sensitivity Sensitivity NCIT:C3114 Hypersensitivity NCIT:C3114 updated sensitivity NCIT:C3114 NCIT -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm of soft tissue neoplasm of soft tissue Neoplasm of Soft Tissue NCIT:C3377 Soft Tissue Neoplasm DOID:0060123 updated neoplasm of soft tissue NCIT:C3377 NCIT -MONDO:0000654 benign connective and soft tissue neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of the soft tissue tumor of the soft tissue Tumor of the Soft Tissue NCIT:C3377 Soft Tissue Neoplasm NCIT:C3377, DOID:0060123 updated tumor of the soft tissue NCIT:C3377 NCIT MONDO:0000675 pain agnosia oio:hasExactSynonym oio:hasRelatedSynonym analgesia analgesia Analgesia NCIT:C125664 Pain Agnosia DOID:0060145 updated analgesia NCIT:C125664 NCIT MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym disorder of organic acid metabolism disorder of organic acid metabolism Disorder of Organic Acid Metabolism NCIT:C101334 Organic Acid Metabolism Disorder NCIT:C101334 updated disorder of organic acid metabolism NCIT:C101334 NCIT MONDO:0000688 inborn organic aciduria oio:hasExactSynonym oio:hasBroadSynonym organic acid metabolism disorder organic acid metabolism disorder Organic Acid Metabolism Disorder NCIT:C101334 Organic Acid Metabolism Disorder DOID:0060159 updated organic acid metabolism disorder NCIT:C101334 NCIT MONDO:0000741 angular cheilitis oio:hasExactSynonym oio:hasRelatedSynonym cheilosis cheilosis Cheilosis NCIT:C112198 Angular Cheilitis NCIT:C112198, DOID:0060312 updated cheilosis NCIT:C112198 NCIT -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9143 updated B acute lymphoblastic leukemia NCIT:C8644 NCIT -MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9143 updated B acute lymphoblastic leukemia NCIT:C9140 NCIT MONDO:0000814 B-cell adult acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9143 updated B acute lymphoblastic leukemia NCIT:C9143 NCIT MONDO:0000816 abdominal obesity-metabolic syndrome oio:hasExactSynonym oio:hasNarrowSynonym metabolic syndrome X metabolic syndrome X Metabolic Syndrome X NCIT:C84442 Metabolic Syndrome NCIT:C84442 updated metabolic syndrome X NCIT:C84442 NCIT -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 updated acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3168 updated acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C3168 updated acute lymphoblastic leukemia (ALL) NCIT:C3168 NCIT -MONDO:0000870 childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C3168 updated acute lymphoblastic leukemia (ALL) NCIT:C4967 NCIT -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia NCIT:C7953 updated T acute lymphoblastic leukemia NCIT:C3183 NCIT MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia NCIT:C7953 updated T acute lymphoblastic leukemia NCIT:C7953 NCIT -MONDO:0000871 T-cell childhood acute lymphocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym T acute lymphoblastic leukemia T acute lymphoblastic leukemia T Acute Lymphoblastic Leukemia NCIT:C9142 Adult T Acute Lymphoblastic Leukemia NCIT:C7953 updated T acute lymphoblastic leukemia NCIT:C9142 NCIT -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C9140 updated B acute lymphoblastic leukemia NCIT:C8644 NCIT MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C9140 updated B acute lymphoblastic leukemia NCIT:C9140 NCIT -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C9140 updated B acute lymphoblastic leukemia NCIT:C9143 NCIT -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 updated acute monocytic leukemia NCIT:C4861 NCIT -MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C8263 updated acute monocytic leukemia NCIT:C4861 NCIT MONDO:0000875 adult acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C8263 Adult Acute Monocytic Leukemia NCIT:C8263 updated acute monocytic leukemia NCIT:C8263 NCIT -MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C115965 Mucositis DOID:0080178 updated mucositis NCIT:C115965 NCIT MONDO:0000888 gastrointestinal mucositis oio:hasExactSynonym oio:hasRelatedSynonym mucositis mucositis Mucositis NCIT:C3853 Gastrointestinal Mucositis DOID:0080178 updated mucositis NCIT:C3853 NCIT MONDO:0000922 pelvic inflammatory disease oio:hasExactSynonym oio:hasRelatedSynonym pelvic infection pelvic infection Pelvic Infection NCIT:C3889 Pelvic Inflammatory Disease NCIT:C3889 updated pelvic infection NCIT:C3889 NCIT -MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym normokalemic periodic paralysis normokalemic periodic paralysis Normokalemic Periodic Paralysis NCIT:C122791 Normokalemic Periodic Paralysis MESH:D010245 updated normokalemic periodic paralysis NCIT:C122791 NCIT -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CLL NCIT:C3163 Chronic Lymphocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 updated CLL NCIT:C3163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0001014 chronic leukemia oio:hasExactSynonym oio:hasRelatedSynonym CML NCIT:C3174 Chronic Myeloid Leukemia, BCR-ABL1 Positive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:1036 updated CML NCIT:C3174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0001020 amblyopia oio:hasExactSynonym oio:hasRelatedSynonym lazy eye lazy eye Lazy Eye NCIT:C118764 Amblyopia NCIT:C118764 updated lazy eye NCIT:C118764 NCIT -MONDO:0001056 gastric cancer oio:hasExactSynonym oio:hasBroadSynonym gastric neoplasm gastric neoplasm Gastric Neoplasm NCIT:C3387 Gastric Neoplasm DOID:10534, NCIT:C3387 updated gastric neoplasm NCIT:C3387 NCIT -MONDO:0001082 lymph node cancer oio:hasExactSynonym oio:hasBroadSynonym lymph node neoplasm lymph node neoplasm Lymph Node Neoplasm NCIT:C35497 Lymph Node Neoplasm NCIT:C35497, DOID:10619 updated lymph node neoplasm NCIT:C35497 NCIT -MONDO:0001083 Fanconi renotubular syndrome oio:hasExactSynonym oio:hasNarrowSynonym adult Fanconi syndrome adult Fanconi syndrome Adult Fanconi Syndrome NCIT:C4377 Adult Fanconi Syndrome DOID:1062 updated adult Fanconi syndrome NCIT:C4377 NCIT MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym mediastinal neuroblastoma mediastinal neuroblastoma Mediastinal Neuroblastoma NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 updated mediastinal neuroblastoma NCIT:C6628 NCIT MONDO:0001095 mediastinum neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym neuroblastoma of the mediastinum neuroblastoma of the mediastinum Neuroblastoma of the Mediastinum NCIT:C6628 Mediastinal Neuroblastoma NCIT:C6628 updated neuroblastoma of the mediastinum NCIT:C6628 NCIT MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101209 Spinal Meningocele updated spinal meningocele NCIT:C101209 NCIT -MONDO:0001147 meningocele oio:hasExactSynonym oio:hasNarrowSynonym spinal meningocele spinal meningocele Spinal Meningocele NCIT:C101214 Spina Bifida updated spinal meningocele NCIT:C101214 NCIT -MONDO:0001187 urinary bladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the bladder tumor of the bladder Tumor of the Bladder NCIT:C2901 Bladder Neoplasm DOID:11054, NCIT:C2901 updated tumor of the bladder NCIT:C2901 NCIT MONDO:0001256 arteriovenous hemangioma/malformation oio:hasExactSynonym oio:hasRelatedSynonym arteriovenous malformation arteriovenous malformation Arteriovenous Malformation NCIT:C2882 Arteriovenous Malformation/Hemangioma DOID:11294 updated arteriovenous malformation NCIT:C2882 NCIT MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's Itch NCIT:C128349 Cercarial Dermatitis GARD:0009747 updated swimmer's itch NCIT:C128349 NCIT MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis NCIT:C35111 Posterior Uveitis NORD:1601 updated Posterior Uveitis NCIT:C35111 NCIT MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior Uveitis NCIT:C35111 Posterior Uveitis MONDO:ambiguous, NCIT:C35111 updated posterior uveitis NCIT:C35111 NCIT MONDO:0001302 hypertensive heart disease oio:hasExactSynonym oio:hasRelatedSynonym hypertensive cardiomegaly hypertensive cardiomegaly Hypertensive Cardiomegaly NCIT:C4907 Hypertensive Cardiomegaly updated hypertensive cardiomegaly NCIT:C4907 NCIT -MONDO:0001322 pericardium cancer oio:hasExactSynonym oio:hasBroadSynonym pericardial tumor pericardial tumor Pericardial Tumor NCIT:C4651 Pericardial Neoplasm NCIT:C4651, DOID:116 updated pericardial tumor NCIT:C4651 NCIT -MONDO:0001325 penile cancer oio:hasExactSynonym oio:hasBroadSynonym penile neoplasm penile neoplasm Penile Neoplasm NCIT:C3317 Penile Neoplasm DOID:11615 updated penile neoplasm NCIT:C3317 NCIT -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym Cardiac tumor Cardiac tumor Cardiac Tumor NCIT:C3081 Heart Neoplasm DOID:117, NCIT:C3081 updated Cardiac tumor NCIT:C3081 NCIT -MONDO:0001340 heart cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of heart tumor of heart Tumor of Heart NCIT:C3081 Heart Neoplasm DOID:117 updated tumor of heart NCIT:C3081 NCIT -MONDO:0001398 ureter benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym ureteral tumor ureteral tumor Ureteral Tumor NCIT:C3427 Ureter Neoplasm DOID:11885, NCIT:C3427 updated ureteral tumor NCIT:C3427 NCIT -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vagina neoplasm vagina neoplasm Vagina Neoplasm NCIT:C3437 Vaginal Neoplasm DOID:119 updated vagina neoplasm NCIT:C3437 NCIT -MONDO:0001402 vaginal cancer oio:hasExactSynonym oio:hasBroadSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm NCIT:C3437, DOID:119 updated vaginal tumor NCIT:C3437 NCIT -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath neoplasm nerve sheath neoplasm Nerve Sheath Neoplasm NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 updated nerve sheath neoplasm NCIT:C4972 NCIT -MONDO:0001406 peripheral nervous system neoplasm oio:hasExactSynonym oio:hasNarrowSynonym nerve sheath tumors nerve sheath tumors Nerve Sheath Tumors NCIT:C4972 Nerve Sheath Neoplasm DOID:1192 updated nerve sheath tumors NCIT:C4972 NCIT -MONDO:0001407 tracheal cancer oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:11920 updated tracheal neoplasm NCIT:C3419 NCIT MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis American trypanosomiasis American Trypanosomiasis NCIT:C84629 Chagas Disease DOID:12140 updated American trypanosomiasis NCIT:C84629 NCIT MONDO:0001493 chronic pulmonary heart disease oio:hasExactSynonym oio:hasBroadSynonym Cor pulmonale Cor pulmonale Cor Pulmonale NCIT:C34478 Cor Pulmonale NCIT:C34478 updated Cor pulmonale NCIT:C34478 NCIT MONDO:0001502 retroperitoneum carcinoma oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal cancer retroperitoneal cancer Retroperitoneal Cancer NCIT:C7352 Retroperitoneal Carcinoma NCIT:C7352 updated retroperitoneal cancer NCIT:C7352 NCIT -MONDO:0001528 vulva cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of vulva neoplasm of vulva Neoplasm of Vulva NCIT:C3443 Vulvar Neoplasm DOID:1245 updated neoplasm of vulva NCIT:C3443 NCIT -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Hurler syndrome Hurler Syndrome NCIT:C61261 Hurler Syndrome DOID:12802 updated Hurler syndrome NCIT:C61261 NCIT MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym MPS I NCIT:C85053 Mucopolysaccharidosis Type I GARD:0010335 updated MPS I NCIT:C85053 NCIT MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis I mucopolysaccharidosis I Mucopolysaccharidosis I NCIT:C85053 Mucopolysaccharidosis Type I DOID:12802 updated mucopolysaccharidosis I NCIT:C85053 NCIT MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign lymphoepithelial lesion of the salivary gland benign lymphoepithelial lesion of the salivary gland Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 updated benign lymphoepithelial lesion of the salivary gland NCIT:C3949 NCIT MONDO:0001598 benign lymphoepithelial lesion of salivary gland oio:hasExactSynonym oio:hasRelatedSynonym benign salivary gland lymphoepithelial lesion benign salivary gland lymphoepithelial lesion Benign Salivary Gland Lymphoepithelial Lesion NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland NCIT:C3949 updated benign salivary gland lymphoepithelial lesion NCIT:C3949 NCIT MONDO:0001602 labia minora carcinoma oio:hasExactSynonym oio:hasBroadSynonym labia minora cancer labia minora cancer Labia Minora Cancer NCIT:C9364 Labia Minora Carcinoma NCIT:C9364, DOID:1293 updated labia minora cancer NCIT:C9364 NCIT MONDO:0001651 scrotum squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of scrotum squamous cell carcinoma of scrotum Squamous Cell Carcinoma of Scrotum NCIT:C4643 Scrotal Squamous Cell Carcinoma DOID:13159 updated squamous cell carcinoma of scrotum NCIT:C4643 NCIT -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasRelatedSynonym primary brain neoplasm primary brain neoplasm Primary Brain Neoplasm NCIT:C170814 Primary Brain Neoplasm DOID:1319, NCIT:C4952 updated primary brain neoplasm NCIT:C170814 NCIT -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym brain neoplasm brain neoplasm Brain Neoplasm NCIT:C2907 Brain Neoplasm DOID:1319 updated brain neoplasm NCIT:C2907 NCIT -MONDO:0001657 brain cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brain tumor of the brain Tumor of the Brain NCIT:C2907 Brain Neoplasm DOID:1319, NCIT:C2907 updated tumor of the brain NCIT:C2907 NCIT MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym exocrine pancreas insufficiency exocrine pancreas insufficiency Exocrine Pancreas Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 updated exocrine pancreas insufficiency NCIT:C84316 NCIT MONDO:0001684 exocrine pancreatic insufficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency pancreatic insufficiency Pancreatic Insufficiency NCIT:C84316 Pancreatic Insufficiency NCIT:C84316 updated pancreatic insufficiency NCIT:C84316 NCIT MONDO:0001898 optic choroid disorder oio:hasExactSynonym oio:hasRelatedSynonym choroid disease choroid disease Choroid Disease NCIT:C34468 Choroid Disorder DOID:1417 updated choroid disease NCIT:C34468 NCIT -MONDO:0001901 selective IgG subclass deficiency oio:hasExactSynonym oio:hasRelatedSynonym selective IgG immunodeficiency selective IgG immunodeficiency Selective IgG Immunodeficiency NCIT:C27142 Selective IgG Immunodeficiency NCIT:C27142, DOID:14176 updated selective IgG immunodeficiency NCIT:C27142 NCIT MONDO:0001941 blindness (disorder) oio:hasExactSynonym oio:hasRelatedSynonym blindness blindness Blindness NCIT:C97109 Blindness DOID:1432 updated blindness NCIT:C97109 NCIT MONDO:0002008 labyrinthitis oio:hasExactSynonym oio:hasRelatedSynonym inner ear infection inner ear infection Inner Ear Infection NCIT:C128369 Labyrinthitis DOID:3930 updated inner ear infection NCIT:C128369 NCIT -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 updated methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCIT:C148366 NCIT -MONDO:0002012 methylmalonic acidemia oio:hasExactSynonym oio:hasNarrowSynonym methylmalonic aciduria, mut type methylmalonic aciduria, mut type Methylmalonic Aciduria, Mut Type NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency DOID:14749 updated methylmalonic aciduria, mut type NCIT:C148366 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental disorder mental disorder Mental Disorder NCIT:C2893 Psychiatric Disorder NCIT:C2893 updated mental disorder NCIT:C2893 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental dysfunction mental dysfunction Mental Dysfunction NCIT:C2893 Psychiatric Disorder NCIT:C2893 updated mental dysfunction NCIT:C2893 NCIT MONDO:0002025 psychiatric disorder oio:hasExactSynonym oio:hasNarrowSynonym mental illness mental illness Mental Illness NCIT:C2893 Psychiatric Disorder NCIT:C2893 updated mental illness NCIT:C2893 NCIT -MONDO:0002026 candidiasis oio:hasExactSynonym oio:hasNarrowSynonym disseminated candidiasis disseminated candidiasis Disseminated Candidiasis NCIT:C116812 Disseminated Candidiasis DOID:1508, ICD9CM:112.5 updated disseminated candidiasis NCIT:C116812 NCIT MONDO:0002032 colon carcinoma oio:hasExactSynonym oio:hasBroadSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma NCIT:C4910 updated colon cancer NCIT:C4910 NCIT -MONDO:0002038 head and neck carcinoma oio:hasExactSynonym oio:hasRelatedSynonym head and neck cancer head and neck cancer Head and Neck Cancer NCIT:C4013 Malignant Head and Neck Neoplasm NCIT:C35850 updated head and neck cancer NCIT:C4013 NCIT MONDO:0002041 fungal infectious disease oio:hasExactSynonym oio:hasRelatedSynonym fungal infection fungal infection Fungal Infection NCIT:C3245 Fungal Infection NCIT:C3245 updated fungal infection NCIT:C3245 NCIT -MONDO:0002050 depressive disorder oio:hasExactSynonym oio:hasRelatedSynonym melancholia melancholia Melancholia NCIT:C34812 Melancholic Depression MESH:D003866 updated melancholia NCIT:C34812 NCIT -MONDO:0002073 malignant pineal area germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym pineal region germinoma pineal region germinoma Pineal Region Germinoma NCIT:C8712 Pineal Region Germinoma GARD:0012017 updated pineal region germinoma NCIT:C8712 NCIT MONDO:0002081 musculoskeletal system disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal disorder musculoskeletal disorder Musculoskeletal Disorder NCIT:C107377 Musculoskeletal Disorder updated musculoskeletal disorder NCIT:C107377 NCIT -MONDO:0002082 endocrine gland neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant endocrine tumor malignant endocrine tumor Malignant Endocrine Tumor NCIT:C3575 Malignant Endocrine Neoplasm DOID:170 updated malignant endocrine tumor NCIT:C3575 NCIT -MONDO:0002087 peritoneum cancer oio:hasExactSynonym oio:hasRelatedSynonym peritoneal neoplasm peritoneal neoplasm Peritoneal Neoplasm NCIT:C3322 Peritoneal Neoplasm DOID:1725 updated peritoneal neoplasm NCIT:C3322 NCIT -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel neoplasm blood vessel neoplasm Blood Vessel Neoplasm NCIT:C7387 Blood Vessel Neoplasm NCIT:C7387, DOID:175 updated blood vessel neoplasm NCIT:C7387 NCIT -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym blood vessel tumor blood vessel tumor Blood Vessel Tumor NCIT:C7387 Blood Vessel Neoplasm DOID:175 updated blood vessel tumor NCIT:C7387 NCIT -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasRelatedSynonym vascular tissue neoplasm vascular tissue neoplasm Vascular Tissue Neoplasm NCIT:C7388 Vascular Neoplasm DOID:175 updated vascular tissue neoplasm NCIT:C7388 NCIT -MONDO:0002095 vascular cancer oio:hasExactSynonym oio:hasBroadSynonym vascular tumors vascular tumors Vascular Tumors NCIT:C7388 Vascular Neoplasm DOID:175, NCIT:C7388 updated vascular tumors NCIT:C7388 NCIT -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C3510 Cutaneous Melanoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM updated CM NCIT:C3510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym oio:hasRelatedSynonym CM NCIT:C7137 Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CM updated CM NCIT:C7137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002100 cardiovascular cancer oio:hasExactSynonym oio:hasBroadSynonym cardiovascular neoplasm cardiovascular neoplasm Cardiovascular Neoplasm NCIT:C4784 Cardiovascular Neoplasm DOID:176 updated cardiovascular neoplasm NCIT:C4784 NCIT -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of thyroid gland neoplasm of thyroid gland Neoplasm of Thyroid Gland NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 updated neoplasm of thyroid gland NCIT:C3414 NCIT -MONDO:0002108 thyroid cancer oio:hasExactSynonym oio:hasBroadSynonym thyroid gland neoplasm thyroid gland neoplasm Thyroid Gland Neoplasm NCIT:C3414 Thyroid Gland Neoplasm DOID:1781 updated thyroid gland neoplasm NCIT:C3414 NCIT -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary gland neoplasm pituitary gland neoplasm Pituitary Gland Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785, NCIT:C3330 updated pituitary gland neoplasm NCIT:C3330 NCIT -MONDO:0002109 pituitary cancer oio:hasExactSynonym oio:hasBroadSynonym pituitary neoplasm pituitary neoplasm Pituitary Neoplasm NCIT:C3330 Pituitary Gland Neoplasm DOID:1785 updated pituitary neoplasm NCIT:C3330 NCIT -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreatic exocrine tumor pancreatic exocrine tumor Pancreatic Exocrine Tumor NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 updated pancreatic exocrine tumor NCIT:C4445 NCIT -MONDO:0002116 malignant exocrine pancreas neoplasm oio:hasExactSynonym oio:hasRelatedSynonym tumor of exocrine pancreas tumor of exocrine pancreas Tumor of Exocrine Pancreas NCIT:C4445 Pancreatic Exocrine Neoplasm DOID:1795 updated tumor of exocrine pancreas NCIT:C4445 NCIT -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C9343, DOID:184 updated osseous tumor NCIT:C6603 NCIT -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone neoplasm bone neoplasm Bone Neoplasm NCIT:C9343 Bone Neoplasm DOID:184 updated bone neoplasm NCIT:C9343 NCIT -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym bone tumor bone tumor Bone Tumor NCIT:C9343 Bone Neoplasm DOID:184 updated bone tumor NCIT:C9343 NCIT -MONDO:0002129 bone cancer oio:hasExactSynonym oio:hasBroadSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C9343, DOID:184 updated osseous tumor NCIT:C9343 NCIT -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:VYST updated yolk sac tumor NCIT:C27241 NCIT -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST updated yolk sac tumor NCIT:C3011 NCIT -MONDO:0002143 vaginal yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:VYST updated yolk sac tumor NCIT:C3011 NCIT MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym CARD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C103186 updated CARD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD NCIT:C103186 Sexual Differentiation Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 updated DSD NCIT:C103186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002149 reproductive system cancer oio:hasExactSynonym oio:hasBroadSynonym reproductive tumor reproductive tumor Reproductive Tumor NCIT:C3674 Reproductive System Neoplasm NCIT:C3674, DOID:193 updated reproductive tumor NCIT:C3674 NCIT -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute Cholecystitis NCIT:C35152 Acute Cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 updated acute cholecystitis NCIT:C35152 NCIT -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis acalculous cholecystitis Acalculous Cholecystitis NCIT:C35578 Acalculous Cholecystitis GARD:0000030 updated acalculous cholecystitis NCIT:C35578 NCIT -MONDO:0002158 fallopian tube cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the fallopian tube tumor of the fallopian tube Tumor of the Fallopian Tube NCIT:C3032 Fallopian Tube Neoplasm NCIT:C3032, DOID:1964 updated tumor of the fallopian tube NCIT:C3032 NCIT -MONDO:0002178 placenta cancer oio:hasExactSynonym oio:hasBroadSynonym placental tumors placental tumors Placental Tumors NCIT:C4858 Placental Neoplasm DOID:2021, NCIT:C4858 updated placental tumors NCIT:C4858 NCIT -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym eye neoplasm eye neoplasm Eye Neoplasm NCIT:C3030 Eye Neoplasm DOID:2174 updated eye neoplasm NCIT:C3030 NCIT -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of eye neoplasm of eye Neoplasm of Eye NCIT:C3030 Eye Neoplasm DOID:2174 updated neoplasm of eye NCIT:C3030 NCIT -MONDO:0002236 ocular cancer oio:hasExactSynonym oio:hasBroadSynonym ocular tumor ocular tumor Ocular Tumor NCIT:C3030 Eye Neoplasm NCIT:C3030, DOID:2174 updated ocular tumor NCIT:C3030 NCIT MONDO:0002249 thrombocytosis disease oio:hasExactSynonym oio:hasRelatedSynonym thrombocytosis thrombocytosis Thrombocytosis NCIT:C35530 Thrombocytosis DOID:2228 updated thrombocytosis NCIT:C35530 NCIT -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasBroadSynonym pharyngeal disorder pharyngeal disorder Pharyngeal Disorder NCIT:C26850 Pharyngeal Disorder DOID:2275 updated pharyngeal disorder NCIT:C26850 NCIT -MONDO:0002258 pharyngitis oio:hasExactSynonym oio:hasNarrowSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis ICD9CM:462, DOID:2275 updated acute pharyngitis NCIT:C34355 NCIT -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colon neoplasm colon neoplasm Colon Neoplasm NCIT:C2953 Colon Neoplasm DOID:235 updated colon neoplasm NCIT:C2953 NCIT -MONDO:0002278 benign colon neoplasm oio:hasExactSynonym oio:hasBroadSynonym colonic tumor colonic tumor Colonic Tumor NCIT:C2953 Colon Neoplasm DOID:235, NCIT:C2953 updated colonic tumor NCIT:C2953 NCIT MONDO:0002287 glandular cystitis oio:hasExactSynonym oio:hasRelatedSynonym cystitis glandularis cystitis glandularis Cystitis Glandularis NCIT:C39860 Cystitis Glandularis DOID:2392 updated cystitis glandularis NCIT:C39860 NCIT -MONDO:0002290 clitoris cancer oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of clitoris carcinoma of clitoris Carcinoma of Clitoris NCIT:C9362 Clitoral Carcinoma DOID:2401, NCIT:C9362 updated carcinoma of clitoris NCIT:C9362 NCIT -MONDO:0002316 motor peripheral neuropathy oio:hasExactSynonym oio:hasNarrowSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease DOID:2477 updated hereditary motor and sensory neuropathy NCIT:C75467 NCIT -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym trachea neoplasm trachea neoplasm Trachea Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 updated trachea neoplasm NCIT:C3419 NCIT -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal neoplasm tracheal neoplasm Tracheal Neoplasm NCIT:C3419 Tracheal Neoplasm DOID:248 updated tracheal neoplasm NCIT:C3419 NCIT -MONDO:0002318 trachea leiomyoma oio:hasExactSynonym oio:hasBroadSynonym tracheal tumor tracheal tumor Tracheal Tumor NCIT:C3419 Tracheal Neoplasm DOID:248, NCIT:C3419 updated tracheal tumor NCIT:C3419 NCIT -MONDO:0002328 intracranial hemangioma oio:hasExactSynonym oio:hasBroadSynonym brain hemangioma brain hemangioma Brain Hemangioma NCIT:C7739 Brain Hemangioma MONDO:patterns/location updated brain hemangioma NCIT:C7739 NCIT -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hematologic cancer hematologic cancer Hematologic Cancer NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 updated hematologic cancer NCIT:C27134 NCIT -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematologic neoplasm hematologic neoplasm Hematologic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 updated hematologic neoplasm NCIT:C27134 NCIT -MONDO:0002334 hematopoietic and lymphoid system neoplasm oio:hasExactSynonym oio:hasBroadSynonym hematopoietic neoplasm hematopoietic neoplasm Hematopoietic Neoplasm NCIT:C27134 Hematopoietic and Lymphoid Cell Neoplasm DOID:2531 updated hematopoietic neoplasm NCIT:C27134 NCIT -MONDO:0002354 benign laryngeal neoplasm oio:hasExactSynonym oio:hasBroadSynonym larynx neoplasm larynx neoplasm Larynx Neoplasm NCIT:C3156 Laryngeal Neoplasm DOID:2598 updated larynx neoplasm NCIT:C3156 NCIT MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of glottis cancer of glottis Cancer of Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 updated cancer of glottis NCIT:C4923 NCIT MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the glottis cancer of the glottis Cancer of the Glottis NCIT:C4923 Glottis Carcinoma NCIT:C4923 updated cancer of the glottis NCIT:C4923 NCIT MONDO:0002355 glottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym glottic throat cancer glottic throat cancer Glottic Throat Cancer NCIT:C4923 Glottis Carcinoma NCIT:C4923 updated glottic throat cancer NCIT:C4923 NCIT @@ -59592,154 +58279,69 @@ MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the larynx cancer of the larynx Cancer of the Larynx NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 updated cancer of the larynx NCIT:C4855 NCIT MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal cancer laryngeal cancer Laryngeal Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 updated laryngeal cancer NCIT:C4855 NCIT MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym laryngeal throat cancer laryngeal throat cancer Laryngeal Throat Cancer NCIT:C4855 Laryngeal Carcinoma NCIT:C4855 updated laryngeal throat cancer NCIT:C4855 NCIT -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary Serous Carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 updated micropapillary serous carcinoma NCIT:C6882 NCIT -MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym micropapillary serous carcinoma micropapillary serous carcinoma Micropapillary serous carcinoma NCIT:C6882 Micropapillary Serous Carcinoma DOID:2632, NCIT:C6882 updated micropapillary serous carcinoma NCIT:C6882 NCIT MONDO:0002368 papillary serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym papillary serous carcinoma papillary serous carcinoma Papillary Serous Carcinoma NCIT:C8377 Papillary Serous Cystadenocarcinoma DOID:2632, NCIT:C8377 updated papillary serous carcinoma NCIT:C8377 NCIT -MONDO:0002370 ovarian Brenner tumor oio:hasExactSynonym oio:hasBroadSynonym Brenner tumor Brenner tumor Brenner Tumor NCIT:C39954 Brenner Tumor NCIT:C3872 updated Brenner tumor NCIT:C39954 NCIT -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign synovioma benign synovioma Benign Synovioma NCIT:C3829 Benign Synovial Neoplasm DOID:2701 updated benign synovioma NCIT:C3829 NCIT -MONDO:0002399 tenosynovial giant cell tumor, localized type oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of synovium benign tumor of synovium Benign Tumor of Synovium NCIT:C3829 Benign Synovial Neoplasm DOID:2701, NCIT:C3829 updated benign tumor of synovium NCIT:C3829 NCIT MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the liver angioma of the liver Angioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 updated angioma of the liver NCIT:C3869 NCIT MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the liver hemangioma of the liver Hemangioma of the Liver NCIT:C3869 Liver Hemangioma NCIT:C3869 updated hemangioma of the liver NCIT:C3869 NCIT MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hepatic hemangioma hepatic hemangioma Hepatic Hemangioma NCIT:C3869 Liver Hemangioma NCIT:C3869 updated hepatic hemangioma NCIT:C3869 NCIT MONDO:0002404 liver hemangioma oio:hasExactSynonym oio:hasRelatedSynonym liver angioma liver angioma Liver Angioma NCIT:C3869 Liver Hemangioma NCIT:C3869 updated liver angioma NCIT:C3869 NCIT MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ethmoid sinus adenocarcinoma of ethmoid sinus Adenocarcinoma of Ethmoid Sinus NCIT:C6237 Ethmoid Sinus Adenocarcinoma DOID:2766 updated adenocarcinoma of ethmoid sinus NCIT:C6237 NCIT -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF NCIT:C35716 Idiopathic Pulmonary Fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 updated IPF NCIT:C35716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002435 oculomotor nerve neoplasm oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve III tumor cranial nerve III tumor Cranial Nerve III Tumor NCIT:C6994 Oculomotor Nerve Neoplasm DOID:2817 updated cranial nerve III tumor NCIT:C6994 NCIT MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 NCIT:C84793 Jervell and Lange Nielsen Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 updated JLNS1 NCIT:C84793 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002447 endometrial carcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C7558 updated endometrial cancer NCIT:C7558 NCIT -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm of the prostate phyllodes neoplasm of the prostate Phyllodes Neoplasm of the Prostate NCIT:C7574 Prostate Phyllodes Tumor NCIT:C7574, DOID:2885 updated phyllodes neoplasm of the prostate NCIT:C7574 NCIT -MONDO:0002451 benign prostate phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym prostate phyllodes tumor prostate phyllodes tumor Prostate Phyllodes Tumor NCIT:C7574 Prostate Phyllodes Tumor DOID:2885 updated prostate phyllodes tumor NCIT:C7574 NCIT MONDO:0002467 inner ear disorder oio:hasExactSynonym oio:hasNarrowSynonym vestibular disorder vestibular disorder Vestibular Disorder NCIT:C27166 Inner Ear Disorder NCIT:C27166 updated vestibular disorder NCIT:C27166 NCIT -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes Malignant Cystosarcoma Phyllodes NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 updated malignant cystosarcoma phyllodes NCIT:C4275 NCIT -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym malignant phyllodes neoplasm malignant phyllodes neoplasm Malignant Phyllodes Neoplasm NCIT:C4275 Malignant Phyllodes Tumor DOID:3016 updated malignant phyllodes neoplasm NCIT:C4275 NCIT -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast neoplasm phyllodes breast neoplasm Phyllodes Breast Neoplasm NCIT:C7575 Breast Phyllodes Tumor DOID:3016 updated phyllodes breast neoplasm NCIT:C7575 NCIT -MONDO:0002489 malignant breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes breast tumor phyllodes breast tumor Phyllodes Breast Tumor NCIT:C7575 Breast Phyllodes Tumor DOID:3016 updated phyllodes breast tumor NCIT:C7575 NCIT -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C7049 updated astrocytic tumor NCIT:C6958 NCIT MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C7049 updated astrocytic tumor NCIT:C7049 NCIT -MONDO:0002503 adult astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C7049 updated astrocytic tumor NCIT:C9022 NCIT -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C6958 Astrocytic Tumor NCIT:C9022 updated astrocytic tumor NCIT:C6958 NCIT -MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C7049 Adult Astrocytic Tumor NCIT:C9022 updated astrocytic tumor NCIT:C7049 NCIT MONDO:0002505 childhood astrocytic tumor oio:hasExactSynonym oio:hasBroadSynonym astrocytic tumor astrocytic tumor Astrocytic Tumor NCIT:C9022 Childhood Astrocytic Tumor NCIT:C9022 updated astrocytic tumor NCIT:C9022 NCIT -MONDO:0002508 gingivitis oio:hasExactSynonym oio:hasNarrowSynonym chronic gingivitis chronic gingivitis Chronic Gingivitis NCIT:C34474 Chronic Gingivitis ICD9CM:523.1, DOID:3087 updated chronic gingivitis NCIT:C34474 NCIT -MONDO:0002516 digestive system cancer oio:hasExactSynonym oio:hasBroadSynonym GI tumor GI tumor GI Tumor NCIT:C3052 Digestive System Neoplasm NCIT:C3052, DOID:3119 updated GI tumor NCIT:C3052 NCIT -MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasRelatedSynonym fatty acid metabolism disorder fatty acid metabolism disorder Fatty Acid Metabolism Disorder NCIT:C117115 Fatty Acid Metabolism Disorder DOID:3146 updated fatty acid metabolism disorder NCIT:C117115 NCIT MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym lipid metabolism disorder lipid metabolism disorder Lipid Metabolism Disorder NCIT:C97092 Lipid Metabolism Disorder DOID:3146 updated lipid metabolism disorder NCIT:C97092 NCIT -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 updated glandular papilloma NCIT:C6880 NCIT -MONDO:0002533 papillary adenoma oio:hasExactSynonym oio:hasRelatedSynonym glandular papilloma glandular papilloma Glandular Papilloma NCIT:C6880 Glandular Papilloma NCIT:C6880, DOID:3172 updated glandular papilloma NCIT:C6880 NCIT -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4045 updated oligodendroglioma NCIT:C3288 NCIT -MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4045 updated oligodendroglioma NCIT:C4014 NCIT MONDO:0002540 childhood oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4045 updated oligodendroglioma NCIT:C4045 NCIT -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C3288 Oligodendroglioma NCIT:C4014 updated oligodendroglioma NCIT:C3288 NCIT MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4014 Adult Oligodendroglioma NCIT:C4014 updated oligodendroglioma NCIT:C4014 NCIT -MONDO:0002543 adult oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglioma oligodendroglioma Oligodendroglioma NCIT:C4045 Childhood Oligodendroglioma NCIT:C4014 updated oligodendroglioma NCIT:C4045 NCIT MONDO:0002561 lysosomal storage disease oio:hasExactSynonym oio:hasRelatedSynonym phospholipidosis phospholipidosis PHOSPHOLIPIDOSIS NCIT:C61250 Lysosomal Storage Disease NCIT:C61250 updated phospholipidosis NCIT:C61250 NCIT MONDO:0002572 aspiration pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym aspiration pneumonia aspiration pneumonia Aspiration Pneumonia NCIT:C34932 Aspiration Pneumonitis NCIT:C34932 updated aspiration pneumonia NCIT:C34932 NCIT MONDO:0002585 breast fibrocystic change, proliferative type oio:hasExactSynonym oio:hasBroadSynonym proliferative fibrocystic change proliferative fibrocystic change Proliferative Fibrocystic Change NCIT:C6940 Breast Fibrocystic Change, Proliferative Type DOID:3274, NCIT:C6940 updated proliferative fibrocystic change NCIT:C6940 NCIT -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic neoplasm thymic neoplasm Thymic Neoplasm NCIT:C3412 Thymus Neoplasm DOID:3277 updated thymic neoplasm NCIT:C3412 NCIT -MONDO:0002586 thymus cancer oio:hasExactSynonym oio:hasBroadSynonym thymic tumor thymic tumor Thymic Tumor NCIT:C3412 Thymus Neoplasm DOID:3277, NCIT:C3412 updated thymic tumor NCIT:C3412 NCIT MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C6585 Childhood Osteosarcoma NCIT:C6585 updated osteosarcoma NCIT:C6585 NCIT -MONDO:0002623 pediatric osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym osteosarcoma osteosarcoma Osteosarcoma NCIT:C9145 Osteosarcoma NCIT:C6585 updated osteosarcoma NCIT:C9145 NCIT -MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym oio:hasRelatedSynonym SCOS NCIT:C168988 Sertoli Cell-Only Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SCOS updated SCOS NCIT:C168988 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002637 histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytic and dendritic cell neoplasms histiocytic and dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm ONCOTREE:HDCN updated histiocytic and dendritic cell neoplasms NCIT:C9294 NCIT MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of scrotum cancer of scrotum Cancer of Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 updated cancer of scrotum NCIT:C6389 NCIT MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the scrotum cancer of the scrotum Cancer of the Scrotum NCIT:C6389 Scrotal Carcinoma NCIT:C6389 updated cancer of the scrotum NCIT:C6389 NCIT MONDO:0002650 scrotal carcinoma oio:hasExactSynonym oio:hasBroadSynonym scrotal cancer scrotal cancer Scrotal Cancer NCIT:C6389 Scrotal Carcinoma NCIT:C6389 updated scrotal cancer NCIT:C6389 NCIT -MONDO:0002658 iris cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the iris tumor of the iris Tumor of the Iris NCIT:C3142 Iris Neoplasm NCIT:C3142, DOID:3478 updated tumor of the iris NCIT:C3142 NCIT -MONDO:0002659 uveal cancer oio:hasExactSynonym oio:hasBroadSynonym uveal tumor uveal tumor Uveal Tumor NCIT:C3436 Uveal Neoplasm DOID:3479, NCIT:C3436 updated uveal tumor NCIT:C3436 NCIT MONDO:0002670 ampulla of vater adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of ampulla of vater adenocarcinoma of ampulla of vater Adenocarcinoma of Ampulla of Vater NCIT:C6650 Ampulla of Vater Adenocarcinoma DOID:3502 updated adenocarcinoma of ampulla of vater NCIT:C6650 NCIT MONDO:0002671 signet ring cell breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym signet ring cell carcinoma of breast signet ring cell carcinoma of breast Signet Ring Cell Carcinoma of Breast NCIT:C5175 Breast Signet Ring Cell Carcinoma DOID:3503 updated signet ring cell carcinoma of breast NCIT:C5175 NCIT -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C7809 updated fibrosarcoma NCIT:C3043 NCIT MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C7809 updated fibrosarcoma NCIT:C7809 NCIT -MONDO:0002676 adult fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C7809 updated fibrosarcoma NCIT:C8088 NCIT -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C3043 Fibrosarcoma NCIT:C8088 updated fibrosarcoma NCIT:C3043 NCIT -MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C7809 Adult Fibrosarcoma NCIT:C8088 updated fibrosarcoma NCIT:C7809 NCIT MONDO:0002678 pediatric fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrosarcoma fibrosarcoma Fibrosarcoma NCIT:C8088 Childhood Fibrosarcoma NCIT:C8088 updated fibrosarcoma NCIT:C8088 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 updated choroid plexus neoplasm NCIT:C3473 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of choroid plexus tumor of choroid plexus Tumor of Choroid Plexus NCIT:C3473 Choroid Plexus Neoplasm DOID:3540 updated tumor of choroid plexus NCIT:C3473 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3540 updated choroid plexus neoplasm NCIT:C42080 NCIT -MONDO:0002681 choroid plexus cancer oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm DOID:3540 updated choroid plexus neoplasm NCIT:C8568 NCIT -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C8568 updated choroid plexus neoplasm NCIT:C3473 NCIT -MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C8568 updated choroid plexus neoplasm NCIT:C42080 NCIT MONDO:0002683 adult choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C8568 updated choroid plexus neoplasm NCIT:C8568 NCIT -MONDO:0002685 childhood choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym childhood choroid plexus neoplasm childhood choroid plexus neoplasm Childhood Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm DOID:3545 updated childhood choroid plexus neoplasm NCIT:C42080 NCIT -MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma gonadoblastoma Gonadoblastoma NCIT:C3754 Gonadoblastoma OMIM:424500 updated gonadoblastoma NCIT:C3754 NCIT -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym CNS neoplasm CNS neoplasm CNS Neoplasm NCIT:C9293 Central Nervous System Neoplasm DOID:3620 updated CNS neoplasm NCIT:C9293 NCIT -MONDO:0002714 central nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym central nervous system tumor central nervous system tumor Central Nervous System Tumor NCIT:C9293 Central Nervous System Neoplasm DOID:3620 updated central nervous system tumor NCIT:C9293 NCIT -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of uterus neoplasm of uterus Neoplasm of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 updated neoplasm of uterus NCIT:C3435 NCIT -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of uterus tumor of uterus Tumor of Uterus NCIT:C3435 Uterine Neoplasm DOID:363 updated tumor of uterus NCIT:C3435 NCIT -MONDO:0002715 uterine cancer oio:hasExactSynonym oio:hasBroadSynonym uterine tumor uterine tumor Uterine Tumor NCIT:C3435 Uterine Neoplasm DOID:363, NCIT:C3435 updated uterine tumor NCIT:C3435 NCIT -MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm NCIT:C6563 updated kidney neoplasm NCIT:C3150 NCIT MONDO:0002730 childhood kidney neoplasm oio:hasExactSynonym oio:hasBroadSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C6563 Childhood Kidney Neoplasm NCIT:C6563 updated kidney neoplasm NCIT:C6563 NCIT -MONDO:0002731 cerebral hemisphere cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of cerebrum tumor of cerebrum Tumor of Cerebrum NCIT:C4874 Cerebral Neoplasm DOID:368, NCIT:C4874 updated tumor of cerebrum NCIT:C4874 NCIT -MONDO:0002732 lung benign neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the lung tumor of the lung Tumor of the Lung NCIT:C3200 Lung Neoplasm NCIT:C3200, DOID:3683 updated tumor of the lung NCIT:C3200 NCIT MONDO:0002747 endometrial mucinous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym uterine corpus mucinous adenocarcinoma uterine corpus mucinous adenocarcinoma Uterine Corpus Mucinous Adenocarcinoma NCIT:C40144 Endometrial Mucinous Adenocarcinoma DOID:3707, NCIT:C40144 updated uterine corpus mucinous adenocarcinoma NCIT:C40144 NCIT MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym SPB NCIT:C7812 Solitary Plasmacytoma of Bone http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SPB updated SPB NCIT:C7812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002782 cranial nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve palsies cranial nerve palsies Cranial nerve palsies NCIT:C26941 Cranial Nerve Palsy NCIT:C26941 updated cranial nerve palsies NCIT:C26941 NCIT -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C4011 updated medulloblastoma NCIT:C3222 NCIT -MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C4011 updated medulloblastoma NCIT:C3997 NCIT MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C4011 updated medulloblastoma NCIT:C4011 NCIT -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3222 Medulloblastoma NCIT:C3997 updated medulloblastoma NCIT:C3222 NCIT MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma NCIT:C3997 updated medulloblastoma NCIT:C3997 NCIT -MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C4011 Adult Medulloblastoma NCIT:C3997 updated medulloblastoma NCIT:C4011 NCIT MONDO:0002803 intestinal pseudo-obstruction oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction intestinal pseudoobstruction Intestinal Pseudoobstruction NCIT:C34733 Intestinal Pseudo-Obstruction GARD:0006789 updated intestinal pseudoobstruction NCIT:C34733 NCIT -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 updated sweat gland adenoma NCIT:C7560 NCIT -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma DOID:3896, NCIT:C7560 updated sweat gland adenoma NCIT:C7560 NCIT MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym acrospiroma acrospiroma Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 updated acrospiroma NCIT:C7563 NCIT MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 updated eccrine acrospiroma NCIT:C7563 NCIT MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma NCIT:C7563 updated eccrine acrospiroma NCIT:C7563 NCIT -MONDO:0002808 pancreatic serous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym PSC NCIT:C4828 Primary Sclerosing Cholangitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PSC updated PSC NCIT:C4828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal neoplasm adrenal neoplasm Adrenal Neoplasm NCIT:C2859 Adrenal Gland Neoplasm DOID:3953 updated adrenal neoplasm NCIT:C2859 NCIT -MONDO:0002817 adrenal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the adrenal gland tumor of the adrenal gland Tumor of the Adrenal Gland NCIT:C2859 Adrenal Gland Neoplasm NCIT:C2859, DOID:3953 updated tumor of the adrenal gland NCIT:C2859 NCIT -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma Merkel cell carcinoma Merkel Cell Carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 updated Merkel cell carcinoma NCIT:C9231 NCIT -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma DOID:3965 updated Merkel cell carcinoma NCIT:C9231 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Ringertz carcinoma Ringertz carcinoma Ringertz Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Ringertz carcinoma NCIT:C54287 NCIT -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma Schneiderian carcinoma Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Schneiderian carcinoma NCIT:C54287 NCIT +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal Schneiderian carcinoma Sinonasal Schneiderian carcinoma Sinonasal Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Sinonasal Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal cylindrical cell carcinoma Sinonasal cylindrical cell carcinoma Sinonasal Cylindrical Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Sinonasal cylindrical cell carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal transitional cell carcinoma Sinonasal transitional cell carcinoma Sinonasal Transitional Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma NCIT:C54287 updated Sinonasal transitional cell carcinoma NCIT:C54287 NCIT -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym sinonasal squamous cell carcinoma sinonasal squamous cell carcinoma Sinonasal Squamous Cell Carcinoma NCIT:C68611 Sinonasal Squamous Cell Carcinoma ONCOTREE:SNSC updated sinonasal squamous cell carcinoma NCIT:C68611 NCIT MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma oio:hasExactSynonym oio:hasBroadSynonym biliary cystadenocarcinoma biliary cystadenocarcinoma Biliary Cystadenocarcinoma NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma DOID:4075, NCIT:C4130 updated biliary cystadenocarcinoma NCIT:C4130 NCIT -MONDO:0002889 orbital cancer oio:hasExactSynonym oio:hasBroadSynonym orbital tumor orbital tumor Orbital Tumor NCIT:C3290 Orbit Neoplasm DOID:4143, NCIT:C3290 updated orbital tumor NCIT:C3290 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem neoplasm malignant brain stem neoplasm Malignant Brain Stem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 updated malignant brain stem neoplasm NCIT:C3570 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brain stem tumor malignant brain stem tumor Malignant Brain Stem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 updated malignant brain stem tumor NCIT:C3570 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem neoplasm malignant brainstem neoplasm Malignant Brainstem Neoplasm NCIT:C3570 Malignant Brain Stem Neoplasm MONDO:patterns/cancer, NCIT:C3570 updated malignant brainstem neoplasm NCIT:C3570 NCIT MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym malignant brainstem tumor malignant brainstem tumor Malignant Brainstem Tumor NCIT:C3570 Malignant Brain Stem Neoplasm NCIT:C3570 updated malignant brainstem tumor NCIT:C3570 NCIT -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of brain stem neoplasm of brain stem Neoplasm of Brain Stem NCIT:C4869 Brain Stem Neoplasm DOID:4203 updated neoplasm of brain stem NCIT:C4869 NCIT -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the brainstem tumor of the brainstem Tumor of the Brainstem NCIT:C4869 Brain Stem Neoplasm DOID:4203 updated tumor of the brainstem NCIT:C4869 NCIT -MONDO:0002912 brainstem cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of adult brain stem neoplasm of adult brain stem Neoplasm of Adult Brain Stem NCIT:C5967 Adult Brain Stem Neoplasm DOID:4203 updated neoplasm of adult brain stem NCIT:C5967 NCIT -MONDO:0002913 cerebellar neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of cerebellum malignant tumor of cerebellum Malignant Tumor of Cerebellum NCIT:C3569 Malignant Cerebellar Neoplasm DOID:4205, NCIT:C3569 updated malignant tumor of cerebellum NCIT:C3569 NCIT MONDO:0002921 congenital structural myopathy oio:hasExactSynonym oio:hasRelatedSynonym centronuclear myopathy centronuclear myopathy Centronuclear Myopathy NCIT:C84648 Congenital Structural Myopathy NCIT:C84648 updated centronuclear myopathy NCIT:C84648 NCIT MONDO:0002936 scrotum basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of the scrotum basal cell carcinoma of the scrotum Basal Cell Carcinoma of the Scrotum NCIT:C6386 Scrotal Basal Cell Carcinoma DOID:4278 updated basal cell carcinoma of the scrotum NCIT:C6386 NCIT MONDO:0002943 external ear basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basal cell carcinoma of external ear basal cell carcinoma of external ear Basal Cell Carcinoma of External Ear NCIT:C6082 External Ear Basal Cell Carcinoma DOID:4287 updated basal cell carcinoma of external ear NCIT:C6082 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial basal cell carcinoma fibroepithelial basal cell carcinoma Fibroepithelial Basal Cell Carcinoma NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma DOID:4291 updated fibroepithelial basal cell carcinoma NCIT:C4109 NCIT -MONDO:0002969 ciliary body cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ciliary body tumor of the ciliary body Tumor of the Ciliary Body NCIT:C4364 Ciliary Body Neoplasm NCIT:C4364, DOID:4352 updated tumor of the ciliary body NCIT:C4364 NCIT -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym cervical neoplasm cervical neoplasm Cervical Neoplasm NCIT:C2940 Cervical Neoplasm DOID:4362 updated cervical neoplasm NCIT:C2940 NCIT -MONDO:0002974 cervical cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the cervix uteri tumor of the cervix uteri Tumor of the Cervix Uteri NCIT:C2940 Cervical Neoplasm DOID:4362, NCIT:C2940 updated tumor of the cervix uteri NCIT:C2940 NCIT MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal NET small intestinal NET Small Intestinal NET NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 updated small intestinal NET NCIT:C96061 NCIT MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasBroadSynonym small intestinal neuroendocrine tumor small intestinal neuroendocrine tumor Small Intestinal Neuroendocrine Tumor NCIT:C96061 Small Intestinal Neuroendocrine Tumor NCIT:C96061 updated small intestinal neuroendocrine tumor NCIT:C96061 NCIT MONDO:0002998 skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of skull base meningioma of skull base Meningioma of Skull Base NCIT:C5272 Skull Base Meningioma NCIT:C5272 updated meningioma of skull base NCIT:C5272 NCIT MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C6568 Childhood Renal Cell Carcinoma NCIT:C6568 updated renal cell cancer NCIT:C6568 NCIT -MONDO:0003007 childhood kidney cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma NCIT:C6568 updated renal cell cancer NCIT:C9385 NCIT MONDO:0003010 multilocular clear cell renal cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym multilocular cystic renal neoplasm of low malignant potential multilocular cystic renal neoplasm of low malignant potential Multilocular Cystic Renal Neoplasm of Low Malignant Potential NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential Orphanet:319287 updated multilocular cystic renal neoplasm of low malignant potential NCIT:C4524 NCIT MONDO:0003019 potassium deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym potassium deficiency disorder potassium deficiency disorder Potassium Deficiency Disorder NCIT:C34939 Potassium Deficiency Disorder DOID:4500 updated potassium deficiency disorder NCIT:C34939 NCIT -MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C3088 Angiosarcoma NCIT:C9174 updated angiosarcoma NCIT:C3088 NCIT MONDO:0003022 pediatric angiosarcoma oio:hasExactSynonym oio:hasBroadSynonym angiosarcoma angiosarcoma Angiosarcoma NCIT:C9174 Childhood Angiosarcoma NCIT:C9174 updated angiosarcoma NCIT:C9174 NCIT MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C27374 Childhood Mesenchymal Chondrosarcoma NCIT:C27374 updated mesenchymal chondrosarcoma NCIT:C27374 NCIT -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 updated mesenchymal chondrosarcoma NCIT:C3737 NCIT -MONDO:0003041 pediatric mesenchymal chondrosarcoma oio:hasExactSynonym oio:hasBroadSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma NCIT:C27374 updated mesenchymal chondrosarcoma NCIT:C3737 NCIT MONDO:0003053 choroid plexus meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma of choroid plexus meningioma of choroid plexus Meningioma of Choroid Plexus NCIT:C4719 Choroid Plexus Meningioma NCIT:C4719 updated meningioma of choroid plexus NCIT:C4719 NCIT -MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma NCIT:C8264 updated meningioma NCIT:C3230 NCIT MONDO:0003057 pediatric meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma NCIT:C8264 updated meningioma NCIT:C8264 NCIT -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym muscle neoplasm muscle neoplasm Muscle Neoplasm NCIT:C4063 Myomatous Neoplasm DOID:461 updated muscle neoplasm NCIT:C4063 NCIT -MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym oio:hasBroadSynonym myomatous tumor myomatous tumor Myomatous Tumor NCIT:C4063 Myomatous Neoplasm NCIT:C4063, DOID:461 updated myomatous tumor NCIT:C4063 NCIT MONDO:0003070 axillary lymphadenitis oio:hasExactSynonym oio:hasRelatedSynonym axillary adenitis axillary adenitis Axillary Adenitis NCIT:C27333 Axillary Lymphadenitis NCIT:C27333 updated axillary adenitis NCIT:C27333 NCIT -MONDO:0003072 retinal cancer oio:hasExactSynonym oio:hasBroadSynonym retinal tumor retinal tumor Retinal Tumor NCIT:C4800 Retinal Neoplasm DOID:4645, NCIT:C4800 updated retinal tumor NCIT:C4800 NCIT -MONDO:0003104 epicardium cancer oio:hasExactSynonym oio:hasBroadSynonym epicardial tumor epicardial tumor Epicardial Tumor NCIT:C5347 Epicardial Neoplasm DOID:4699, NCIT:C5347 updated epicardial tumor NCIT:C5347 NCIT -MONDO:0003113 extragonadal germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym tumor of extragonadal germ cell tumor of extragonadal germ cell Tumor of Extragonadal Germ Cell NCIT:C3918 Extragonadal Germ Cell Tumor DOID:4717 updated tumor of extragonadal germ cell NCIT:C3918 NCIT -MONDO:0003117 somatoform disorder oio:hasExactSynonym oio:hasRelatedSynonym physiological malfunction arising from mental factor physiological malfunction arising from mental factor Physiological Malfunction Arising from Mental Factor NCIT:C35186 Physiological Malfunction Arising from Mental Factor DOID:4737 updated physiological malfunction arising from mental factor NCIT:C35186 NCIT -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT updated mixed germ cell tumor NCIT:C4290 NCIT -MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:MGCT updated mixed germ cell tumor NCIT:C4290 NCIT MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of testis mixed germ cell neoplasm of testis Mixed Germ Cell Neoplasm of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 updated mixed germ cell neoplasm of testis NCIT:C6347 NCIT MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell neoplasm of the testis mixed germ cell neoplasm of the testis Mixed Germ Cell Neoplasm of the Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 updated mixed germ cell neoplasm of the testis NCIT:C6347 NCIT MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor of testis mixed germ cell tumor of testis Mixed Germ Cell Tumor of Testis NCIT:C6347 Testicular Mixed Germ Cell Tumor DOID:4743, NCIT:C6347 updated mixed germ cell tumor of testis NCIT:C6347 NCIT @@ -59748,12 +58350,9 @@ MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelat MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell neoplasm testicular mixed germ cell neoplasm Testicular Mixed Germ Cell Neoplasm NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 updated testicular mixed germ cell neoplasm NCIT:C6347 NCIT MONDO:0003120 mixed testicular germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym testicular mixed germ cell tumor testicular mixed germ cell tumor Testicular Mixed Germ Cell Tumor NCIT:C6347 Testicular Mixed Germ Cell Tumor NCIT:C6347 updated testicular mixed germ cell tumor NCIT:C6347 NCIT MONDO:0003124 testicular Leydig cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Leydig cell tumor of the testis Leydig cell tumor of the testis Leydig Cell Tumor of the Testis NCIT:C6356 Testicular Leydig Cell Tumor NCIT:C6356 updated Leydig cell tumor of the testis NCIT:C6356 NCIT -MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm sex cord-stromal neoplasm Sex Cord-Stromal Neoplasm NCIT:C3794 Sex Cord-Stromal Tumor DOID:4757 updated sex cord-stromal neoplasm NCIT:C3794 NCIT MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of testis sex cord-stromal neoplasm of testis Sex Cord-Stromal Neoplasm of Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 updated sex cord-stromal neoplasm of testis NCIT:C6358 NCIT MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal neoplasm of the testis sex cord-stromal neoplasm of the testis Sex Cord-Stromal Neoplasm of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 updated sex cord-stromal neoplasm of the testis NCIT:C6358 NCIT MONDO:0003125 testicular sex cord-stromal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym sex cord-stromal tumor of the testis sex cord-stromal tumor of the testis Sex Cord-Stromal Tumor of the Testis NCIT:C6358 Testicular Sex Cord-Stromal Tumor NCIT:C6358 updated sex cord-stromal tumor of the testis NCIT:C6358 NCIT -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9091 updated brain stem glioma NCIT:C8501 NCIT -MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9091 updated brain stem glioma NCIT:C9042 NCIT MONDO:0003153 adult brainstem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9091 updated brain stem glioma NCIT:C9091 NCIT MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of trachea cancer of trachea Cancer of Trachea NCIT:C9347 Tracheal Carcinoma NCIT:C9347 updated cancer of trachea NCIT:C9347 NCIT MONDO:0003184 trachea carcinoma oio:hasExactSynonym oio:hasBroadSynonym trachea cancer trachea cancer Trachea Cancer NCIT:C9347 Tracheal Carcinoma NCIT:C9347 updated trachea cancer NCIT:C9347 NCIT @@ -59762,37 +58361,19 @@ MONDO:0003196 appendix carcinoma oio:hasExactSynonym oio:hasBroadSynonym appendi MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal cancer anal cancer Anal Cancer NCIT:C9291 Anal Carcinoma NCIT:C9291 updated anal cancer NCIT:C9291 NCIT MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of anus cancer of anus Cancer of Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 updated cancer of anus NCIT:C9291 NCIT MONDO:0003199 anal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the anus cancer of the anus Cancer of the Anus NCIT:C9291 Anal Carcinoma NCIT:C9291 updated cancer of the anus NCIT:C9291 NCIT -MONDO:0003208 breast secretory carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SBC NCIT:C2904 Simple Bone Cyst http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009408 updated SBC NCIT:C2904 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of nasal cavity cancer of nasal cavity Cancer of Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336, DOID:4931 updated cancer of nasal cavity NCIT:C9336 NCIT MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasal cavity cancer of the nasal cavity Cancer of the Nasal Cavity NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 updated cancer of the nasal cavity NCIT:C9336 NCIT MONDO:0003212 nasal cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasal cavity cancer nasal cavity cancer Nasal Cavity Cancer NCIT:C9336 Nasal Cavity Carcinoma NCIT:C9336 updated nasal cavity cancer NCIT:C9336 NCIT MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AIS updated AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0003220 gallbladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym gallbladder cancer gallbladder cancer Gallbladder Cancer NCIT:C3844 Gallbladder Carcinoma NCIT:C3844 updated gallbladder cancer NCIT:C3844 NCIT -MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm NCIT:C8273 updated pineal parenchymal cell tumor NCIT:C6965 NCIT MONDO:0003248 adult pineal parenchymal tumor oio:hasExactSynonym oio:hasBroadSynonym pineal parenchymal cell tumor pineal parenchymal cell tumor Pineal Parenchymal Cell Tumor NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm NCIT:C8273 updated pineal parenchymal cell tumor NCIT:C8273 NCIT -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the pineal region neoplasm of the pineal region Neoplasm of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 updated neoplasm of the pineal region NCIT:C3328 NCIT -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasRelatedSynonym pinealoma pinealoma Pinealoma NCIT:C3328 Pineal Region Neoplasm DOID:5032 updated pinealoma NCIT:C3328 NCIT -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the pineal region tumor of the pineal region Tumor of the Pineal Region NCIT:C3328 Pineal Region Neoplasm DOID:5032 updated tumor of the pineal region NCIT:C3328 NCIT -MONDO:0003249 pineal gland cancer oio:hasExactSynonym oio:hasBroadSynonym pineocytic tumor pineocytic tumor Pineocytic Tumor NCIT:C6965 Pineal Parenchymal Cell Neoplasm DOID:5032 updated pineocytic tumor NCIT:C6965 NCIT MONDO:0003261 papillary meningioma of the cerebellum oio:hasExactSynonym oio:hasRelatedSynonym cerebellar papillary meningioma cerebellar papillary meningioma Cerebellar Papillary Meningioma NCIT:C5270 Cerebellar Papillary Meningioma NCIT:C5270 updated cerebellar papillary meningioma NCIT:C5270 NCIT -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 updated papillary meningioma NCIT:C3904 NCIT -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma DOID:5058, NCIT:C3904 updated papillary meningioma NCIT:C3904 NCIT -MONDO:0003262 rhabdoid meningioma oio:hasExactSynonym oio:hasRelatedSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma DOID:5058, NCIT:C3904 updated papillary meningioma NCIT:C8293 NCIT -MONDO:0003273 sternum cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of sternum neoplasm of sternum Neoplasm of Sternum NCIT:C6730 Sternal Neoplasm DOID:5090 updated neoplasm of sternum NCIT:C6730 NCIT -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym thoracic tumor thoracic tumor Thoracic Tumor NCIT:C3406 Thoracic Neoplasm DOID:5093, NCIT:C3406 updated thoracic tumor NCIT:C3406 NCIT -MONDO:0003274 thoracic cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of thorax tumor of thorax Tumor of Thorax NCIT:C3406 Thoracic Neoplasm DOID:5093 updated tumor of thorax NCIT:C3406 NCIT -MONDO:0003275 middle ear cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the middle ear tumor of the middle ear Tumor of the Middle Ear NCIT:C4412 Middle Ear Neoplasm NCIT:C4412, DOID:5099 updated tumor of the middle ear NCIT:C4412 NCIT MONDO:0003307 multiple mucosal neuroma oio:hasExactSynonym oio:hasRelatedSynonym multiple mucosal neuromas multiple mucosal neuromas Multiple Mucosal Neuromas NCIT:C6559 Multiple Mucosal Neuromas NCIT:C6559 updated multiple mucosal neuromas NCIT:C6559 NCIT -MONDO:0003308 pleural mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym benign pleural mesothelioma benign pleural mesothelioma Benign Pleural Mesothelioma NCIT:C4499 Pleural Adenomatoid Tumor DOID:5157 updated benign pleural mesothelioma NCIT:C4499 NCIT -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant scrotal neoplasm malignant scrotal neoplasm Malignant Scrotal Neoplasm NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 updated malignant scrotal neoplasm NCIT:C3560 NCIT -MONDO:0003319 scrotum neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of scrotum malignant tumor of scrotum Malignant Tumor of Scrotum NCIT:C3560 Malignant Scrotal Neoplasm DOID:518 updated malignant tumor of scrotum NCIT:C3560 NCIT MONDO:0003345 hilar cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma GARD:0010175 updated perihilar cholangiocarcinoma NCIT:C36077 NCIT MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of bladder clear cell adenocarcinoma of bladder Clear Cell Adenocarcinoma of Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma DOID:5306, NCIT:C6179 updated clear cell adenocarcinoma of bladder NCIT:C6179 NCIT MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the bladder clear cell adenocarcinoma of the bladder Clear Cell Adenocarcinoma of the Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 updated clear cell adenocarcinoma of the bladder NCIT:C6179 NCIT MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the urinary bladder clear cell adenocarcinoma of the urinary bladder Clear Cell Adenocarcinoma of the Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 updated clear cell adenocarcinoma of the urinary bladder NCIT:C6179 NCIT MONDO:0003386 bladder clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of urinary bladder clear cell adenocarcinoma of urinary bladder Clear Cell Adenocarcinoma of Urinary Bladder NCIT:C6179 Bladder Clear Cell Adenocarcinoma NCIT:C6179 updated clear cell adenocarcinoma of urinary bladder NCIT:C6179 NCIT -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-rich carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 updated glycogen-rich carcinoma NCIT:C4153 NCIT -MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym glycogen-rich carcinoma glycogen-rich carcinoma Glycogen-Rich Carcinoma NCIT:C4153 Glycogen-Rich Carcinoma NCIT:C4153, DOID:5310 updated glycogen-rich carcinoma NCIT:C4153 NCIT MONDO:0003393 thymus gland disorder oio:hasExactSynonym oio:hasRelatedSynonym thymus disorder thymus disorder Thymus Disorder NCIT:C26962 Thymus Disorder updated thymus disorder NCIT:C26962 NCIT MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of testis granulosa cell neoplasm of testis Granulosa Cell Neoplasm of Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 updated granulosa cell neoplasm of testis NCIT:C6357 NCIT MONDO:0003395 testicular granulosa cell tumor oio:hasExactSynonym oio:hasRelatedSynonym granulosa cell neoplasm of the testis granulosa cell neoplasm of the testis Granulosa Cell Neoplasm of the Testis NCIT:C6357 Testicular Granulosa Cell Tumor NCIT:C6357 updated granulosa cell neoplasm of the testis NCIT:C6357 NCIT @@ -59816,12 +58397,6 @@ MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym childhood central nervous system yolk Sac tumor childhood central nervous system yolk Sac tumor Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 updated childhood central nervous system yolk Sac tumor NCIT:C6209 NCIT MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac neoplasm pediatric central nervous system yolk Sac neoplasm Pediatric Central Nervous System Yolk Sac Neoplasm NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor NCIT:C6209 updated pediatric central nervous system yolk Sac neoplasm NCIT:C6209 NCIT MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym pediatric central nervous system yolk Sac tumor pediatric central nervous system yolk Sac tumor Pediatric Central Nervous System Yolk Sac Tumor NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C6209 updated pediatric central nervous system yolk Sac tumor NCIT:C6209 NCIT -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk Sac tumor central nervous system yolk Sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor NCIT:C6209 updated central nervous system yolk Sac tumor NCIT:C7011 NCIT -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system yolk sac tumor central nervous system yolk sac tumor Central Nervous System Yolk Sac Tumor NCIT:C7011 Central Nervous System Yolk Sac Tumor MONDO:patterns/location updated central nervous system yolk sac tumor NCIT:C7011 NCIT -MONDO:0003401 central nervous system endodermal sinus tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor of the CNS yolk Sac tumor of the CNS Yolk Sac Tumor of the CNS NCIT:C7011 Central Nervous System Yolk Sac Tumor DOID:5343, NCIT:C7011 updated yolk Sac tumor of the CNS NCIT:C7011 NCIT -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:TYST updated yolk sac tumor NCIT:C27241 NCIT -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST updated yolk sac tumor NCIT:C3011 NCIT -MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:TYST updated yolk sac tumor NCIT:C3011 NCIT MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of testis endodermal sinus neoplasm of testis Endodermal Sinus Neoplasm of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 updated endodermal sinus neoplasm of testis NCIT:C8000 NCIT MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus neoplasm of the testis endodermal sinus neoplasm of the testis Endodermal Sinus Neoplasm of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 updated endodermal sinus neoplasm of the testis NCIT:C8000 NCIT MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor of testis endodermal sinus tumor of testis Endodermal Sinus Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 updated endodermal sinus tumor of testis NCIT:C8000 NCIT @@ -59833,124 +58408,59 @@ MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynony MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of testis yolk Sac tumor of testis Yolk Sac Tumor of Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 updated yolk Sac tumor of testis NCIT:C8000 NCIT MONDO:0003402 testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk Sac tumor of the testis yolk Sac tumor of the testis Yolk Sac Tumor of the Testis NCIT:C8000 Testicular Yolk Sac Tumor NCIT:C8000 updated yolk Sac tumor of the testis NCIT:C8000 NCIT MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor NCIT:C27241 updated yolk Sac tumor NCIT:C27241 NCIT -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 updated yolk Sac tumor NCIT:C3011 NCIT -MONDO:0003404 adult yolk sac tumor oio:hasExactSynonym oio:hasBroadSynonym yolk Sac tumor yolk Sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor NCIT:C27241 updated yolk Sac tumor NCIT:C3011 NCIT -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6285 updated central nervous system germ cell tumor NCIT:C5461 NCIT -MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6285 updated central nervous system germ cell tumor NCIT:C6205 NCIT MONDO:0003405 adult central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6285 updated central nervous system germ cell tumor NCIT:C6285 NCIT MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix neoplasm hair matrix neoplasm Hair Matrix Neoplasm NCIT:C7367 Hair Follicle Neoplasm DOID:5375, NCIT:C7367 updated hair matrix neoplasm NCIT:C7367 NCIT MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix tumor hair matrix tumor Hair Matrix Tumor NCIT:C7367 Hair Follicle Neoplasm NCIT:C7367, DOID:5375 updated hair matrix tumor NCIT:C7367 NCIT -MONDO:0003443 papillary urothelial neoplasm oio:hasExactSynonym oio:hasRelatedSynonym inverted papilloma of urinary tract inverted papilloma of urinary tract Inverted Papilloma of Urinary Tract NCIT:C6192 Inverted Urothelial Papilloma NCIT:C6192, DOID:5433 updated inverted papilloma of urinary tract NCIT:C6192 NCIT MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym oio:hasRelatedSynonym adenoma of intrahepatic bile duct adenoma of intrahepatic bile duct Adenoma of Intrahepatic Bile Duct NCIT:C7126 Intrahepatic Bile Duct Adenoma DOID:5437 updated adenoma of intrahepatic bile duct NCIT:C7126 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign eccrine spiradenoma benign eccrine spiradenoma Benign Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170, DOID:5444 updated benign eccrine spiradenoma NCIT:C4170 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine Spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 updated eccrine spiradenoma NCIT:C4170 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma NCIT:C4170 Spiradenoma NCIT:C4170 updated eccrine spiradenoma NCIT:C4170 NCIT -MONDO:0003454 conjunctival cancer oio:hasExactSynonym oio:hasBroadSynonym conjunctival tumor conjunctival tumor Conjunctival Tumor NCIT:C2961 Conjunctival Neoplasm DOID:5467, NCIT:C2961 updated conjunctival tumor NCIT:C2961 NCIT MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym oio:hasRelatedSynonym adenofibroma of uterine corpus adenofibroma of uterine corpus Adenofibroma of Uterine Corpus NCIT:C6337 Uterine Corpus Adenofibroma DOID:5475 updated adenofibroma of uterine corpus NCIT:C6337 NCIT -MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma NCIT:C8578 updated ependymoma NCIT:C3017 NCIT MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma NCIT:C8578 updated ependymoma NCIT:C8578 NCIT MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma dysgerminoma Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma ONCOTREE:ODYS updated dysgerminoma NCIT:C8106 NCIT -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 updated basaloid carcinoma NCIT:C4121 NCIT -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma DOID:5522, NCIT:C4121 updated basaloid carcinoma NCIT:C4121 NCIT -MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma acantholytic squamous cell carcinoma Acantholytic squamous cell carcinoma NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:5524 updated acantholytic squamous cell carcinoma NCIT:C4460 NCIT -MONDO:0003499 sarcomatoid squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma NCIT:C27084, DOID:5536 updated spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 NCIT MONDO:0003501 external ear squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of external ear squamous cell carcinoma of external ear Squamous Cell Carcinoma of External Ear NCIT:C6083 External Ear Squamous Cell Carcinoma DOID:5538 updated squamous cell carcinoma of external ear NCIT:C6083 NCIT -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal NET anal canal NET Anal Canal NET NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm updated anal canal NET NCIT:C96540 NCIT -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal canal neuroendocrine tumor anal canal neuroendocrine tumor Anal Canal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor MONDO:patterns/neuroendocrine_neoplasm updated anal canal neuroendocrine tumor NCIT:C96540 NCIT -MONDO:0003504 anal canal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym anal neuroendocrine tumor anal neuroendocrine tumor Anal Neuroendocrine Tumor NCIT:C96540 Anal Canal Neuroendocrine Tumor DOID:5545 updated anal neuroendocrine tumor NCIT:C96540 NCIT -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:TCCA updated choriocarcinoma NCIT:C2948 NCIT -MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C7251 Malignant Testicular Neoplasm NCIT:C9063 updated testicular cancer NCIT:C7251 NCIT MONDO:0003510 malignant testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular cancer testicular cancer Testicular Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor NCIT:C9063 updated testicular cancer NCIT:C9063 NCIT -MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma NCIT:C9013 updated teratoma NCIT:C3403 NCIT MONDO:0003516 adult teratoma oio:hasExactSynonym oio:hasBroadSynonym teratoma teratoma Teratoma NCIT:C9013 Adult Teratoma NCIT:C9013 updated teratoma NCIT:C9013 NCIT MONDO:0003524 gastric gastrin-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym gastric gastrinoma gastric gastrinoma Gastric Gastrinoma NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor DOID:5579 updated gastric gastrinoma NCIT:C27444 NCIT -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital Papillary Adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 updated digital papillary adenocarcinoma NCIT:C27534 NCIT -MONDO:0003531 papillary eccrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym digital papillary adenocarcinoma digital papillary adenocarcinoma Digital papillary adenocarcinoma NCIT:C27534 Digital Papillary Adenocarcinoma DOID:5591 updated digital papillary adenocarcinoma NCIT:C27534 NCIT -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym breast solid papillary carcinoma breast solid papillary carcinoma Breast Solid Papillary Carcinoma NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 updated breast solid papillary carcinoma NCIT:C6870 NCIT -MONDO:0003532 breast papillary carcinoma oio:hasExactSynonym oio:hasNarrowSynonym solid papillary carcinoma of the breast solid papillary carcinoma of the breast Solid Papillary Carcinoma of the Breast NCIT:C6870 Breast Solid Papillary Carcinoma DOID:5592 updated solid papillary carcinoma of the breast NCIT:C6870 NCIT -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 updated acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C4967 updated acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT -MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3168 Childhood Acute Lymphoblastic Leukemia NCIT:C4967 updated acute lymphoblastic leukemia (ALL) NCIT:C3168 NCIT MONDO:0003541 adult acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C4967 Adult Acute Lymphoblastic Leukemia NCIT:C4967 updated acute lymphoblastic leukemia (ALL) NCIT:C4967 NCIT -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym spinal cord neoplasm spinal cord neoplasm Spinal Cord Neoplasm NCIT:C3381 Spinal Cord Neoplasm DOID:5612 updated spinal cord neoplasm NCIT:C3381 NCIT -MONDO:0003544 spinal cord cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the spinal cord tumor of the spinal cord Tumor of the Spinal Cord NCIT:C3381 Spinal Cord Neoplasm DOID:5612, NCIT:C3381 updated tumor of the spinal cord NCIT:C3381 NCIT MONDO:0003556 endometrial adenosquamous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial adenosquamous cancer endometrial adenosquamous cancer Endometrial Adenosquamous Cancer NCIT:C114656 Endometrial Adenosquamous Carcinoma GARD:0013107 updated endometrial adenosquamous cancer NCIT:C114656 NCIT -MONDO:0003581 ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:OEC updated embryonal carcinoma NCIT:C3752 NCIT -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C7811 updated liposarcoma NCIT:C3194 NCIT MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C7811 updated liposarcoma NCIT:C7811 NCIT -MONDO:0003585 adult liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C7811 updated liposarcoma NCIT:C8091 NCIT -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C3194 Liposarcoma NCIT:C8091 updated liposarcoma NCIT:C3194 NCIT -MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C7811 Adult Liposarcoma NCIT:C8091 updated liposarcoma NCIT:C7811 NCIT MONDO:0003587 pediatric liposarcoma oio:hasExactSynonym oio:hasBroadSynonym liposarcoma liposarcoma Liposarcoma NCIT:C8091 Childhood Liposarcoma NCIT:C8091 updated liposarcoma NCIT:C8091 NCIT -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla neoplasm adrenal medulla neoplasm Adrenal Medulla Neoplasm NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 updated adrenal medulla neoplasm NCIT:C4856 NCIT -MONDO:0003606 adrenal medulla cancer oio:hasExactSynonym oio:hasBroadSynonym adrenal medulla tumor adrenal medulla tumor Adrenal Medulla Tumor NCIT:C4856 Adrenal Medulla Neoplasm DOID:5719 updated adrenal medulla tumor NCIT:C4856 NCIT -MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral neuropathy peripheral neuropathy Peripheral Neuropathy NCIT:C119734 Peripheral Neuropathy MESH:D010523, DOID:574 updated peripheral neuropathy NCIT:C119734 NCIT MONDO:0003620 peripheral nervous system disorder oio:hasExactSynonym oio:hasNarrowSynonym peripheral nerve disease peripheral nerve disease Peripheral Nerve Disease NCIT:C27580 Peripheral Nervous System Disorder MTH:516, DOID:574, NCIT:C27580, MESH:D010523 updated peripheral nerve disease NCIT:C27580 NCIT -MONDO:0003646 rectum neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rectal neuroendocrine tumor rectal neuroendocrine tumor Rectal Neuroendocrine Tumor NCIT:C135213 Rectal Neuroendocrine Tumor ORCID:0000-0002-0587-4693, Orphanet:100081 updated rectal neuroendocrine tumor NCIT:C135213 NCIT -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C5165 updated lymphoma NCIT:C3208 NCIT MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C5165 updated lymphoma NCIT:C5165 NCIT -MONDO:0003659 pediatric lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C5165 updated lymphoma NCIT:C7587 NCIT -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C3208 Lymphoma NCIT:C7587 updated lymphoma NCIT:C3208 NCIT -MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C5165 Childhood Lymphoma NCIT:C7587 updated lymphoma NCIT:C5165 NCIT MONDO:0003660 adult lymphoma oio:hasExactSynonym oio:hasBroadSynonym lymphoma lymphoma Lymphoma NCIT:C7587 Adult Lymphoma NCIT:C7587 updated lymphoma NCIT:C7587 NCIT -MONDO:0003666 fallopian tube endometrioid adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym fallopian tube endometrioid neoplasm fallopian tube endometrioid neoplasm Fallopian Tube Endometrioid Neoplasm NCIT:C40111 Fallopian Tube Endometrioid Tumor DOID:5831 updated fallopian tube endometrioid neoplasm NCIT:C40111 NCIT -MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C4049 Anaplastic Ependymoma NCIT:C8269 updated anaplastic ependymoma NCIT:C4049 NCIT MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym oio:hasBroadSynonym anaplastic ependymoma anaplastic ependymoma Anaplastic Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma NCIT:C8269 updated anaplastic ependymoma NCIT:C8269 NCIT -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C8097 updated malignant mesenchymoma NCIT:C4268 NCIT -MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C8097 updated malignant mesenchymoma NCIT:C7947 NCIT MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C8097 updated malignant mesenchymoma NCIT:C8097 NCIT -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C4268 Malignant Mesenchymoma NCIT:C7947 updated malignant mesenchymoma NCIT:C4268 NCIT MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma NCIT:C7947 updated malignant mesenchymoma NCIT:C7947 NCIT -MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym oio:hasBroadSynonym malignant mesenchymoma malignant mesenchymoma Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma NCIT:C7947 updated malignant mesenchymoma NCIT:C8097 NCIT -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed Germ Cell Tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT updated mixed germ cell tumor NCIT:C4290 NCIT -MONDO:0003710 ovarian mixed germ cell neoplasm oio:hasExactSynonym oio:hasRelatedSynonym mixed germ cell tumor mixed germ cell tumor Mixed germ cell tumor NCIT:C4290 Mixed Germ Cell Tumor ONCOTREE:OMGCT updated mixed germ cell tumor NCIT:C4290 NCIT MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA updated urachal carcinoma NCIT:C39842 NCIT MONDO:0003715 bladder urachal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal carcinoma urachal carcinoma Urachal Carcinoma NCIT:C39842 Urachal Carcinoma GARD:0007836, ONCOTREE:URCA updated urachal carcinoma NCIT:C39842 NCIT -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT updated mature teratoma NCIT:C9015 NCIT -MONDO:0003733 central nervous system mature teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:BMT updated mature teratoma NCIT:C9015 NCIT -MONDO:0003735 central nervous system immature teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:BIMT updated immature teratoma NCIT:C4286 NCIT -MONDO:0003749 esophageal disorder oio:hasExactSynonym oio:hasNarrowSynonym esophageal ulcer esophageal ulcer Esophageal Ulcer NCIT:C26950 Esophageal Ulcer DOID:6050, NCIT:C26950 updated esophageal ulcer NCIT:C26950 NCIT -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C5461 Central Nervous System Germ Cell Tumor NCIT:C6205 updated central nervous system germ cell tumor NCIT:C5461 NCIT MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor NCIT:C6205 updated central nervous system germ cell tumor NCIT:C6205 NCIT -MONDO:0003750 childhood central nervous system germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system germ cell tumor central nervous system germ cell tumor Central Nervous System Germ Cell Tumor NCIT:C6285 Adult Central Nervous System Germ Cell Tumor NCIT:C6205 updated central nervous system germ cell tumor NCIT:C6285 NCIT -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C7928 updated germ cell tumor NCIT:C114777 NCIT -MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C7928 updated germ cell tumor NCIT:C3708 NCIT MONDO:0003751 childhood germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C7928 updated germ cell tumor NCIT:C7928 NCIT MONDO:0003752 frontal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of frontal sinus Schneiderian papilloma of frontal sinus Schneiderian Papilloma of Frontal Sinus NCIT:C6837 Frontal Sinus Papilloma NCIT:C6837 updated Schneiderian papilloma of frontal sinus NCIT:C6837 NCIT -MONDO:0003756 ovarian mucinous neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant ovarian mucinous neoplasm malignant ovarian mucinous neoplasm Malignant Ovarian Mucinous Neoplasm NCIT:C40033 Malignant Ovarian Mucinous Tumor DOID:6067 updated malignant ovarian mucinous neoplasm NCIT:C40033 NCIT MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C6552 Childhood Testicular Germ Cell Tumor NCIT:C6552 updated testicular germ cell tumor NCIT:C6552 NCIT -MONDO:0003758 childhood testicular germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor testicular germ cell tumor Testicular Germ Cell Tumor NCIT:C8591 Testicular Germ Cell Tumor NCIT:C6552 updated testicular germ cell tumor NCIT:C8591 NCIT MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian endodermal sinus tumor childhood ovarian endodermal sinus tumor Childhood Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 updated childhood ovarian endodermal sinus tumor NCIT:C6551 NCIT MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym childhood ovarian yolk Sac neoplasm childhood ovarian yolk Sac neoplasm Childhood Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 updated childhood ovarian yolk Sac neoplasm NCIT:C6551 NCIT MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus neoplasm pediatric ovarian endodermal sinus neoplasm Pediatric Ovarian Endodermal Sinus Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 updated pediatric ovarian endodermal sinus neoplasm NCIT:C6551 NCIT MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian endodermal sinus tumor pediatric ovarian endodermal sinus tumor Pediatric Ovarian Endodermal Sinus Tumor NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 updated pediatric ovarian endodermal sinus tumor NCIT:C6551 NCIT MONDO:0003759 childhood ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym pediatric ovarian yolk Sac neoplasm pediatric ovarian yolk Sac neoplasm Pediatric Ovarian Yolk Sac Neoplasm NCIT:C6551 Childhood Ovarian Yolk Sac Tumor NCIT:C6551 updated pediatric ovarian yolk Sac neoplasm NCIT:C6551 NCIT -MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C3873 Ovarian Germ Cell Tumor NCIT:C8588 updated ovarian germ cell tumor NCIT:C3873 NCIT MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym ovarian germ cell tumor ovarian germ cell tumor Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor NCIT:C8588 updated ovarian germ cell tumor NCIT:C8588 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym oio:hasRelatedSynonym melanoma of leptomeninges melanoma of leptomeninges Melanoma of Leptomeninges NCIT:C5317 Meningeal Melanoma NCIT:C5317 updated melanoma of leptomeninges NCIT:C5317 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of leptomeninges malignant neoplasm of leptomeninges Malignant Neoplasm of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 updated malignant neoplasm of leptomeninges NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the leptomeninges malignant neoplasm of the leptomeninges Malignant Neoplasm of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 updated malignant neoplasm of the leptomeninges NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the leptomeninges malignant tumor of the leptomeninges Malignant Tumor of the Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm NCIT:C8506 updated malignant tumor of the leptomeninges NCIT:C8506 NCIT -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic Bronchitis NCIT:C26722 Chronic Bronchitis DOID:6132 updated chronic bronchitis NCIT:C26722 NCIT MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell neoplasm childhood testicular mixed germ cell neoplasm Childhood Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 updated childhood testicular mixed germ cell neoplasm NCIT:C6542 NCIT MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular mixed germ cell tumor childhood testicular mixed germ cell tumor Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 updated childhood testicular mixed germ cell tumor NCIT:C6542 NCIT MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell neoplasm pediatric testicular mixed germ cell neoplasm Pediatric Testicular Mixed Germ Cell Neoplasm NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542 updated pediatric testicular mixed germ cell neoplasm NCIT:C6542 NCIT MONDO:0003787 childhood testicular mixed germ cell cancer oio:hasExactSynonym oio:hasRelatedSynonym pediatric testicular mixed germ cell tumor pediatric testicular mixed germ cell tumor Pediatric Testicular Mixed Germ Cell Tumor NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor NCIT:C6542, DOID:6161 updated pediatric testicular mixed germ cell tumor NCIT:C6542 NCIT -MONDO:0003802 cornea cancer oio:hasExactSynonym oio:hasBroadSynonym corneal tumor corneal tumor Corneal Tumor NCIT:C4361 Corneal Neoplasm DOID:6199, NCIT:C4361 updated corneal tumor NCIT:C4361 NCIT MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma of the ovary mature teratoma of the ovary Mature Teratoma of the Ovary NCIT:C8112 Mature Ovarian Teratoma NCIT:C8112 updated mature teratoma of the ovary NCIT:C8112 NCIT -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT updated mature teratoma NCIT:C9015 NCIT -MONDO:0003820 mature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma ONCOTREE:OMT updated mature teratoma NCIT:C9015 NCIT MONDO:0003835 gastric cardia adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of gastric cardia adenocarcinoma of gastric cardia Adenocarcinoma of Gastric Cardia NCIT:C5247 Gastric Cardia Adenocarcinoma DOID:6271 updated adenocarcinoma of gastric cardia NCIT:C5247 NCIT MONDO:0003837 TSH producing pituitary tumor oio:hasExactSynonym oio:hasNarrowSynonym TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary TSH Secreting Adenoma of the Pituitary NCIT:C7915 Thyrotroph Pituitary Neuroendocrine Tumor DOID:6275, NCIT:C8011 updated TSH secreting adenoma of the pituitary NCIT:C7915 NCIT MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C6286 Childhood Cerebellar Astrocytoma NCIT:C6286 updated cerebellar astrocytoma NCIT:C6286 NCIT -MONDO:0003842 childhood cerebellar astrocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym cerebellar astrocytoma cerebellar astrocytoma Cerebellar Astrocytoma NCIT:C9475 Cerebellar Astrocytoma NCIT:C6286 updated cerebellar astrocytoma NCIT:C9475 NCIT MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic condition genetic condition Genetic Condition NCIT:C3101 Genetic Disorder NCIT:C3101 updated genetic condition NCIT:C3101 NCIT MONDO:0003847 hereditary disease oio:hasExactSynonym oio:hasBroadSynonym genetic disorder genetic disorder Genetic Disorder NCIT:C3101 Genetic Disorder NCIT:C3101 updated genetic disorder NCIT:C3101 NCIT MONDO:0003853 Bartholin gland adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of Bartholin's gland adenocarcinoma of Bartholin's gland Adenocarcinoma of Bartholin's Gland NCIT:C7719 Bartholin Gland Adenocarcinoma DOID:6316 updated adenocarcinoma of Bartholin's gland NCIT:C7719 NCIT MONDO:0003865 acral lentiginous melanoma oio:hasExactSynonym oio:hasRelatedSynonym acral melanoma acral melanoma Acral Melanoma NCIT:C4022 Acral Lentiginous Melanoma ONCOTREE:ACRM updated acral melanoma NCIT:C4022 NCIT -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C8501 Brain Stem Glioma NCIT:C9042 updated brain stem glioma NCIT:C8501 NCIT MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9042 Childhood Brain Stem Glioma NCIT:C9042 updated brain stem glioma NCIT:C9042 NCIT -MONDO:0003869 childhood brain stem glioma oio:hasExactSynonym oio:hasBroadSynonym brain stem glioma brain stem glioma Brain Stem Glioma NCIT:C9091 Adult Brain Stem Glioma NCIT:C9042 updated brain stem glioma NCIT:C9091 NCIT MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of testis childhood teratocarcinoma of testis Childhood Teratocarcinoma of Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 updated childhood teratocarcinoma of testis NCIT:C6539 NCIT MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood teratocarcinoma of the testis childhood teratocarcinoma of the testis Childhood Teratocarcinoma of the Testis NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 updated childhood teratocarcinoma of the testis NCIT:C6539 NCIT MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma oio:hasExactSynonym oio:hasRelatedSynonym childhood testicular teratocarcinoma childhood testicular teratocarcinoma Childhood Testicular Teratocarcinoma NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma NCIT:C6539 updated childhood testicular teratocarcinoma NCIT:C6539 NCIT @@ -59963,42 +58473,25 @@ MONDO:0003892 acinar lung adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynon MONDO:0003904 lung occult squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult squamous cell carcinoma of lung occult squamous cell carcinoma of lung Occult Squamous Cell Carcinoma of Lung NCIT:C6686 Occult Lung Squamous Cell Carcinoma DOID:6510 updated occult squamous cell carcinoma of lung NCIT:C6686 NCIT MONDO:0003923 ethmoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of ethmoid sinus Schneiderian papilloma of ethmoid sinus Schneiderian Papilloma of Ethmoid Sinus NCIT:C6836 Ethmoid Sinus Papilloma NCIT:C6836 updated Schneiderian papilloma of ethmoid sinus NCIT:C6836 NCIT MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C7535 Childhood Visual Pathway Glioma NCIT:C7535 updated visual pathway glioma NCIT:C7535 NCIT -MONDO:0003932 childhood optic nerve glioma oio:hasExactSynonym oio:hasBroadSynonym visual pathway glioma visual pathway glioma Visual Pathway Glioma NCIT:C8567 Visual Pathway Glioma NCIT:C7535 updated visual pathway glioma NCIT:C8567 NCIT MONDO:0003933 chest wall bone cancer oio:hasExactSynonym oio:hasRelatedSynonym malignant bone neoplasm of chest wall malignant bone neoplasm of chest wall Malignant Bone Neoplasm of Chest Wall NCIT:C6724 Malignant Chest Wall Bone Neoplasm DOID:6579 updated malignant bone neoplasm of chest wall NCIT:C6724 NCIT MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome Hyperimmunoglobulin M Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome NCIT:C3990 updated hyperimmunoglobulin M syndrome NCIT:C3990 NCIT MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C5793 Adult Central Nervous System Choriocarcinoma NCIT:C5793 updated central nervous system choriocarcinoma NCIT:C5793 NCIT -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C6206 Childhood Central Nervous System Choriocarcinoma NCIT:C5793 updated central nervous system choriocarcinoma NCIT:C6206 NCIT -MONDO:0003952 adult central nervous system choriocarcinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system choriocarcinoma central nervous system choriocarcinoma Central Nervous System Choriocarcinoma NCIT:C7012 Central Nervous System Choriocarcinoma NCIT:C5793 updated central nervous system choriocarcinoma NCIT:C7012 NCIT MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C8292 Adult Pineoblastoma NCIT:C8292 updated pineoblastoma NCIT:C8292 NCIT -MONDO:0003957 adult pineoblastoma oio:hasExactSynonym oio:hasBroadSynonym pineoblastoma pineoblastoma Pineoblastoma NCIT:C9344 Pineoblastoma NCIT:C8292 updated pineoblastoma NCIT:C9344 NCIT MONDO:0003962 Froelich syndrome oio:hasExactSynonym oio:hasRelatedSynonym adiposogenital dystrophy adiposogenital dystrophy Adiposogenital Dystrophy NCIT:C34625 Frohlich Syndrome GARD:0006463 updated adiposogenital dystrophy NCIT:C34625 NCIT -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva MESH:D009221 updated fibrodysplasia ossificans progressiva NCIT:C3040 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma DOID:6700, NCIT:C8398 updated cancer of fundus of stomach NCIT:C8398 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of gastric fundus cancer of gastric fundus Cancer of Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 updated cancer of gastric fundus NCIT:C8398 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the fundus of the stomach cancer of the fundus of the stomach Cancer of the Fundus of the Stomach NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 updated cancer of the fundus of the stomach NCIT:C8398 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the gastric fundus cancer of the gastric fundus Cancer of the Gastric Fundus NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 updated cancer of the gastric fundus NCIT:C8398 NCIT MONDO:0003970 gastric fundus carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric fundus (stomach) cancer gastric fundus (stomach) cancer Gastric Fundus (Stomach) Cancer NCIT:C8398 Gastric Fundus Carcinoma NCIT:C8398 updated gastric fundus (stomach) cancer NCIT:C8398 NCIT MONDO:0003982 bilateral breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym bilateral breast cancer bilateral breast cancer Bilateral Breast Cancer NCIT:C8287 Bilateral Breast Carcinoma DOID:6741, NCIT:C8287 updated bilateral breast cancer NCIT:C8287 NCIT -MONDO:0003989 polyembryoma of the ovary oio:hasExactSynonym oio:hasRelatedSynonym polyembryoma polyembryoma Polyembryoma NCIT:C66776 Gonadal Polyembryoma ONCOTREE:OPE updated polyembryoma NCIT:C66776 NCIT MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 updated botryoid-type embryonal rhabdomyosarcoma NCIT:C35574 NCIT -MONDO:0003992 childhood botryoid rhabdomyosarcoma oio:hasExactSynonym oio:hasBroadSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C35574 updated botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 NCIT -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 updated pilocytic astrocytoma NCIT:C4047 NCIT -MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic astrocytoma NCIT:C4047 Pilocytic Astrocytoma NCIT:C4048 updated pilocytic astrocytoma NCIT:C4047 NCIT MONDO:0004000 childhood pilocytic astrocytoma oio:hasExactSynonym oio:hasBroadSynonym pilocytic astrocytoma pilocytic astrocytoma Pilocytic Astrocytoma NCIT:C4048 Childhood Pilocytic Astrocytoma NCIT:C4048 updated pilocytic astrocytoma NCIT:C4048 NCIT -MONDO:0004026 skin tag oio:hasExactSynonym oio:hasRelatedSynonym fibroepithelial polyp fibroepithelial polyp Fibroepithelial Polyp NCIT:C3337 Fibroepithelial Polyp NCIT:C3337, DOID:6873 updated fibroepithelial polyp NCIT:C3337 NCIT -MONDO:0004041 urothelial papilloma oio:hasExactSynonym oio:hasRelatedSynonym bladder transitional cell papilloma bladder transitional cell papilloma Bladder Transitional Cell Papilloma NCIT:C39858 Bladder Urothelial Papilloma DOID:6933 updated bladder transitional cell papilloma NCIT:C39858 NCIT -MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C7846 Intraocular Retinoblastoma NCIT:C9047 updated intraocular retinoblastoma NCIT:C7846 NCIT MONDO:0004045 pediatric intraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym intraocular retinoblastoma intraocular retinoblastoma Intraocular Retinoblastoma NCIT:C9047 Childhood Intraocular Retinoblastoma NCIT:C9047 updated intraocular retinoblastoma NCIT:C9047 NCIT MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4347 Childhood Cerebral Astrocytoma NCIT:C4347 updated cerebral astrocytoma NCIT:C4347 NCIT -MONDO:0004071 childhood cerebral astrocytoma oio:hasExactSynonym oio:hasBroadSynonym cerebral astrocytoma cerebral astrocytoma Cerebral Astrocytoma NCIT:C4951 Cerebral Astrocytoma NCIT:C4347 updated cerebral astrocytoma NCIT:C4951 NCIT MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym basaloid squamous carcinoma of the esophagus basaloid squamous carcinoma of the esophagus Basaloid Squamous Carcinoma of the Esophagus NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 updated basaloid squamous carcinoma of the esophagus NCIT:C7032 NCIT MONDO:0004093 esophageal basaloid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym esophageal basaloid squamous cell carcinoma esophageal basaloid squamous cell carcinoma Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 Esophageal Basaloid Squamous Cell Carcinoma NCIT:C7032 updated esophageal basaloid squamous cell carcinoma NCIT:C7032 NCIT MONDO:0004094 multiple skull base meningioma oio:hasExactSynonym oio:hasRelatedSynonym multiple skull base meningiomas multiple skull base meningiomas Multiple Skull Base Meningiomas NCIT:C5279 Multiple Skull Base Meningiomas NCIT:C5279 updated multiple skull base meningiomas NCIT:C5279 NCIT -MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell and large cell carcinoma of the lung small cell and large cell carcinoma of the lung Small Cell and Large Cell Carcinoma of the Lung NCIT:C9137 Combined Lung Small Cell Carcinoma NCIT:C9424, DOID:7081 updated small cell and large cell carcinoma of the lung NCIT:C9137 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym mixed small cell and squamous cell carcinoma of lung mixed small cell and squamous cell carcinoma of lung Mixed Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma DOID:7081 updated mixed small cell and squamous cell carcinoma of lung NCIT:C9423 NCIT -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 updated epithelioid sarcoma NCIT:C3714 NCIT -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C8095 updated epithelioid sarcoma NCIT:C3714 NCIT -MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C8095 updated epithelioid sarcoma NCIT:C7944 NCIT MONDO:0004105 childhood epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C8095 updated epithelioid sarcoma NCIT:C8095 NCIT MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult adenocarcinoma of lung occult adenocarcinoma of lung Occult Adenocarcinoma of Lung NCIT:C6699 Occult Lung Adenocarcinoma DOID:7168, NCIT:C6699 updated occult adenocarcinoma of lung NCIT:C6699 NCIT MONDO:0004127 lung occult adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult lung adenocarcinoma occult lung adenocarcinoma Occult Lung Adenocarcinoma NCIT:C6699 Occult Lung Adenocarcinoma NCIT:C6699 updated occult lung adenocarcinoma NCIT:C6699 NCIT @@ -60006,11 +58499,7 @@ MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelate MONDO:0004128 lung occult large cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym occult large cell lung carcinoma occult large cell lung carcinoma Occult Large Cell Lung Carcinoma NCIT:C6685 Occult Lung Large Cell Carcinoma NCIT:C6685 updated occult large cell lung carcinoma NCIT:C6685 NCIT MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym oio:hasRelatedSynonym mixed eosinophil-basophil adenoma mixed eosinophil-basophil adenoma Mixed Eosinophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma DOID:7179 updated mixed eosinophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004153 childhood central nervous system embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric CNS embryonal cell carcinoma pediatric CNS embryonal cell carcinoma Pediatric CNS Embryonal Cell Carcinoma NCIT:C6208 Childhood Central Nervous System Embryonal Carcinoma DOID:7231 updated pediatric CNS embryonal cell carcinoma NCIT:C6208 NCIT -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of urinary system neoplasm of urinary system Neoplasm of Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731 updated neoplasm of urinary system NCIT:C3431 NCIT -MONDO:0004180 benign urinary system neoplasm oio:hasExactSynonym oio:hasBroadSynonym tumor of the urinary system tumor of the urinary system Tumor of the Urinary System NCIT:C3431 Urinary System Neoplasm DOID:731, NCIT:C3431 updated tumor of the urinary system NCIT:C3431 NCIT -MONDO:0004192 urethra cancer oio:hasExactSynonym oio:hasRelatedSynonym urethral cancer urethral cancer Urethral Cancer NCIT:C9106 Urethral Carcinoma ONCOTREE:UCA updated urethral cancer NCIT:C9106 NCIT MONDO:0004201 pituitary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym pituitary gland hypoplasia pituitary gland hypoplasia Pituitary Gland Hypoplasia NCIT:C27343 Pituitary Gland Hypoplasia NCIT:C27343 updated pituitary gland hypoplasia NCIT:C27343 NCIT -MONDO:0004216 pineal region germinoma oio:hasExactSynonym oio:hasBroadSynonym germinoma germinoma Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C8712 updated germinoma NCIT:C7009 NCIT MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular yolk Sac tumor, polyvesicular vitelline pattern testicular yolk Sac tumor, polyvesicular vitelline pattern Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern NCIT:C39930 updated testicular yolk Sac tumor, polyvesicular vitelline pattern NCIT:C39930 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial neoplasm benign mesothelial neoplasm Benign Mesothelial Neoplasm NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated benign mesothelial neoplasm NCIT:C3762 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign mesothelial tumor benign mesothelial tumor Benign Mesothelial Tumor NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated benign mesothelial tumor NCIT:C3762 NCIT @@ -60019,10 +58508,9 @@ MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign neoplasm of the mesothelium benign neoplasm of the mesothelium Benign Neoplasm of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated benign neoplasm of the mesothelium NCIT:C3762 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of mesothelium benign tumor of mesothelium Benign Tumor of Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated benign tumor of mesothelium NCIT:C3762 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of the mesothelium benign tumor of the mesothelium Benign Tumor of the Mesothelium NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated benign tumor of the mesothelium NCIT:C3762 NCIT +MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated mesothelioma, benign NCIT:C3762 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign MESOTHELIOMA, BENIGN NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated mesothelioma, benign NCIT:C3762 NCIT MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, Benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated mesothelioma, benign NCIT:C3762 NCIT -MONDO:0004230 adenomatoid tumor oio:hasExactSynonym oio:hasRelatedSynonym mesothelioma, benign mesothelioma, benign Mesothelioma, benign NCIT:C3762 Adenomatoid Tumor NCIT:C3762 updated mesothelioma, benign NCIT:C3762 NCIT -MONDO:0004245 ependymal tumor of brain oio:hasExactSynonym oio:hasRelatedSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma DOID:7497 updated brain ependymoma NCIT:C9372 NCIT MONDO:0004249 pediatric supratentorial ependymoma oio:hasExactSynonym oio:hasBroadSynonym supratentorial ependymoma supratentorial ependymoma Supratentorial Ependymoma NCIT:C9043 Childhood Supratentorial Ependymoma, Not Otherwise Specified NCIT:C9043 updated supratentorial ependymoma NCIT:C9043 NCIT MONDO:0004253 intraductal breast papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym breast intraductal papillomatosis breast intraductal papillomatosis Breast Intraductal Papillomatosis NCIT:C5201 Breast Intraductal Papillomatosis DOID:7511 updated breast intraductal papillomatosis NCIT:C5201 NCIT MONDO:0004254 focal intraductal papillomatosis oio:hasExactSynonym oio:hasRelatedSynonym localized intraductal papillomatosis localized intraductal papillomatosis Localized Intraductal Papillomatosis NCIT:C7365 Focal Intraductal Papillomatosis NCIT:C7365 updated localized intraductal papillomatosis NCIT:C7365 NCIT @@ -60041,50 +58529,30 @@ MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSy MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic intraductal papillary-colloidal carcinoma pancreatic intraductal papillary-colloidal carcinoma Pancreatic Intraductal Papillary-Colloidal Carcinoma NCIT:C5725 Pancreatic Intraductal Papillary-Mucinous Carcinoma NCIT:C5725 updated pancreatic intraductal papillary-colloidal carcinoma NCIT:C5725 NCIT MONDO:0004288 scirrhous breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast scirrhous carcinoma breast scirrhous carcinoma Breast Scirrhous Carcinoma NCIT:C7362 Breast Scirrhous Carcinoma DOID:7578 updated breast scirrhous carcinoma NCIT:C7362 NCIT MONDO:0004290 subglottis verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym verrucous carcinoma of the subglottis verrucous carcinoma of the subglottis Verrucous Carcinoma of the Subglottis NCIT:C8190 Subglottic Verrucous Carcinoma DOID:7584 updated verrucous carcinoma of the subglottis NCIT:C8190 NCIT -MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 updated embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C4915 NCIT MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered oio:hasExactSynonym oio:hasBroadSynonym embryonal tumor with multilayered rosettes, C19MC-altered embryonal tumor with multilayered rosettes, C19MC-altered Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered NCIT:C8290 updated embryonal tumor with multilayered rosettes, C19MC-altered NCIT:C8290 NCIT MONDO:0004316 acantholytic squamous cell skin carcinoma oio:hasExactSynonym oio:hasRelatedSynonym acantholytic squamous cell carcinoma of skin acantholytic squamous cell carcinoma of skin Acantholytic Squamous Cell Carcinoma of Skin NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma DOID:7643 updated acantholytic squamous cell carcinoma of skin NCIT:C4460 NCIT MONDO:0004327 sphenoid sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of sphenoid sinus Schneiderian papilloma of sphenoid sinus Schneiderian Papilloma of Sphenoid Sinus NCIT:C6838 Sphenoid Sinus Papilloma NCIT:C6838 updated Schneiderian papilloma of sphenoid sinus NCIT:C6838 NCIT MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of maxillary sinus adenocarcinoma of maxillary sinus Adenocarcinoma of Maxillary Sinus NCIT:C6240 Maxillary Sinus Adenocarcinoma NCIT:C6240, DOID:7684 updated adenocarcinoma of maxillary sinus NCIT:C6240 NCIT MONDO:0004331 bladder urachal adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym urachal adenocarcinoma urachal adenocarcinoma Urachal Adenocarcinoma NCIT:C39843 Urachal Adenocarcinoma ONCOTREE:UA updated urachal adenocarcinoma NCIT:C39843 NCIT -MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 updated mixed ductal-endocrine carcinoma NCIT:C6879 NCIT MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed ductal-endocrine carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 updated mixed ductal-endocrine carcinoma NCIT:C6879 NCIT -MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma NCIT:C8090 updated malignant hemangiopericytoma NCIT:C4301 NCIT +MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas oio:hasExactSynonym oio:hasRelatedSynonym mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma Mixed Ductal-Endocrine Carcinoma NCIT:C6879 Pancreatic Mixed Ductal Adenocarcinoma-Neuroendocrine Carcinoma DOID:7716 updated mixed ductal-endocrine carcinoma NCIT:C6879 NCIT MONDO:0004344 childhood malignant hemangiopericytoma oio:hasExactSynonym oio:hasBroadSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma NCIT:C8090 updated malignant hemangiopericytoma NCIT:C8090 NCIT -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 updated malignant peripheral nerve sheath tumor NCIT:C3798 NCIT -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 updated malignant peripheral nerve sheath tumor NCIT:C3798 NCIT -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 updated malignant peripheral nerve sheath tumour NCIT:C3798 NCIT -MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 updated malignant peripheral nerve sheath tumor NCIT:C7814 NCIT MONDO:0004345 childhood malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 updated malignant peripheral nerve sheath tumor NCIT:C8094 NCIT -MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C7848 Extraocular Retinoblastoma NCIT:C9048 updated extraocular retinoblastoma NCIT:C7848 NCIT MONDO:0004350 pediatric extraocular retinoblastoma oio:hasExactSynonym oio:hasBroadSynonym extraocular retinoblastoma extraocular retinoblastoma Extraocular Retinoblastoma NCIT:C9048 Childhood Extraocular Retinoblastoma NCIT:C9048 updated extraocular retinoblastoma NCIT:C9048 NCIT MONDO:0004352 adult brain ependymoma oio:hasExactSynonym oio:hasBroadSynonym brain ependymoma brain ependymoma Brain Ependymoma NCIT:C9372 Adult Brain Ependymoma NCIT:C9372 updated brain ependymoma NCIT:C9372 NCIT -MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C3161 Leukemia NCIT:C4989 updated leukemia NCIT:C3161 NCIT MONDO:0004355 childhood leukemia oio:hasExactSynonym oio:hasBroadSynonym leukemia leukemia Leukemia NCIT:C4989 Childhood Leukemia NCIT:C4989 updated leukemia NCIT:C4989 NCIT MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of subglottis cancer of subglottis Cancer of Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 updated cancer of subglottis NCIT:C5972 NCIT MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the subglottis cancer of the subglottis Cancer of the Subglottis NCIT:C5972 Subglottic Carcinoma NCIT:C5972 updated cancer of the subglottis NCIT:C5972 NCIT MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic cancer subglottic cancer Subglottic Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 updated subglottic cancer NCIT:C5972 NCIT MONDO:0004358 subglottis carcinoma oio:hasExactSynonym oio:hasBroadSynonym subglottic throat cancer subglottic throat cancer Subglottic Throat Cancer NCIT:C5972 Subglottic Carcinoma NCIT:C5972 updated subglottic throat cancer NCIT:C5972 NCIT MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C27399 Adult Spinal Cord Ependymoma NCIT:C27399 updated spinal cord ependymoma NCIT:C27399 NCIT -MONDO:0004361 adult spinal cord ependymoma oio:hasExactSynonym oio:hasBroadSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma NCIT:C27399 updated spinal cord ependymoma NCIT:C3875 NCIT MONDO:0004371 spinal multifocal clear cell meningioma oio:hasExactSynonym oio:hasRelatedSynonym multifocal clear cell meningioma of the spine multifocal clear cell meningioma of the spine Multifocal Clear Cell Meningioma of the Spine NCIT:C5287 Spinal Multifocal Clear Cell Meningioma NCIT:C5287 updated multifocal clear cell meningioma of the spine NCIT:C5287 NCIT -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 updated papillary meningioma NCIT:C3904 NCIT -MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary meningioma NCIT:C3904 Papillary Meningioma NCIT:C8293 updated papillary meningioma NCIT:C3904 NCIT MONDO:0004373 adult papillary meningioma oio:hasExactSynonym oio:hasBroadSynonym papillary meningioma papillary meningioma Papillary Meningioma NCIT:C8293 Adult Papillary Meningioma NCIT:C8293 updated papillary meningioma NCIT:C8293 NCIT MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C7925 Adult Extraskeletal Osteosarcoma NCIT:C7925 updated extraskeletal osteosarcoma NCIT:C7925 NCIT -MONDO:0004374 adult extraskeletal osteosarcoma oio:hasExactSynonym oio:hasBroadSynonym extraskeletal osteosarcoma extraskeletal osteosarcoma Extraskeletal Osteosarcoma NCIT:C8810 Extraskeletal Osteosarcoma NCIT:C7925 updated extraskeletal osteosarcoma NCIT:C8810 NCIT -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 updated follicular dendritic cell sarcoma NCIT:C9281 NCIT -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma DOID:7849 updated follicular dendritic cell sarcoma NCIT:C9281 NCIT -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C5792 updated central nervous system germinoma NCIT:C27406 NCIT MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C5792 updated central nervous system germinoma NCIT:C5792 NCIT -MONDO:0004383 adult central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym central nervous system germinoma central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C5792 updated central nervous system germinoma NCIT:C7009 NCIT MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 updated central nervous system Mixed germ cell tumor NCIT:C27402 NCIT -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 updated central nervous system Mixed germ cell tumor NCIT:C27403 NCIT -MONDO:0004406 adult central nervous system mixed germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system Mixed germ cell tumor central nervous system Mixed germ cell tumor Central Nervous System Mixed Germ Cell Tumor NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor NCIT:C27402 updated central nervous system Mixed germ cell tumor NCIT:C7016 NCIT MONDO:0004441 childhood ovarian embryonal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood embryonal carcinoma of the ovary childhood embryonal carcinoma of the ovary Childhood Embryonal Carcinoma of the Ovary NCIT:C6546 Childhood Ovarian Embryonal Carcinoma DOID:8036 updated childhood embryonal carcinoma of the ovary NCIT:C6546 NCIT MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C27406 Childhood Central Nervous System Germinoma NCIT:C27406 updated Central nervous system germinoma NCIT:C27406 NCIT -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C5792 Adult Central Nervous System Germinoma NCIT:C27406 updated Central nervous system germinoma NCIT:C5792 NCIT -MONDO:0004452 childhood central nervous system germinoma oio:hasExactSynonym oio:hasBroadSynonym Central nervous system germinoma Central nervous system germinoma Central Nervous System Germinoma NCIT:C7009 Central Nervous System Germinoma NCIT:C27406 updated Central nervous system germinoma NCIT:C7009 NCIT MONDO:0004457 maxillary sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of maxillary sinus Schneiderian papilloma of maxillary sinus Schneiderian Papilloma of Maxillary Sinus NCIT:C6839 Maxillary Sinus Papilloma NCIT:C6839 updated Schneiderian papilloma of maxillary sinus NCIT:C6839 NCIT MONDO:0004469 pseudovascular skin squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym skin pseudovascular squamous cell carcinoma skin pseudovascular squamous cell carcinoma Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma NCIT:C27542 updated skin pseudovascular squamous cell carcinoma NCIT:C27542 NCIT MONDO:0004473 epiglottis cancer oio:hasExactSynonym oio:hasNarrowSynonym epiglottic carcinoma epiglottic carcinoma Epiglottic Carcinoma NCIT:C35697 Epiglottic Carcinoma NCIT:C35697 updated epiglottic carcinoma NCIT:C35697 NCIT @@ -60115,19 +58583,11 @@ MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelated MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of oxyphilic cell type thyroid gland follicular adenoma of oxyphilic cell type Thyroid Gland Follicular Adenoma of Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 updated thyroid gland follicular adenoma of oxyphilic cell type NCIT:C6042 NCIT MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid gland follicular adenoma of the oxyphilic cell type thyroid gland follicular adenoma of the oxyphilic cell type Thyroid Gland Follicular Adenoma of the Oxyphilic Cell Type NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 updated thyroid gland follicular adenoma of the oxyphilic cell type NCIT:C6042 NCIT MONDO:0004483 thyroid gland oncocytic adenoma oio:hasExactSynonym oio:hasRelatedSynonym thyroid oncocytic adenoma thyroid oncocytic adenoma Thyroid Oncocytic Adenoma NCIT:C6042 Thyroid Gland Oncocytic Adenoma NCIT:C6042 updated thyroid oncocytic adenoma NCIT:C6042 NCIT -MONDO:0004491 uterine corpus choriocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym choriocarcinoma choriocarcinoma Choriocarcinoma NCIT:C2948 Choriocarcinoma ONCOTREE:UCCA updated choriocarcinoma NCIT:C2948 NCIT MONDO:0004499 lung hilum carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung hilum cancer lung hilum cancer Lung Hilum Cancer NCIT:C7454 Lung Hilum Carcinoma NCIT:C7454 updated lung hilum cancer NCIT:C7454 NCIT MONDO:0004500 lung superior sulcus carcinoma oio:hasExactSynonym oio:hasRelatedSynonym superior sulcus carcinoma of lung superior sulcus carcinoma of lung Superior Sulcus Carcinoma of Lung NCIT:C7779 Superior Sulcus Lung Carcinoma DOID:8208 updated superior sulcus carcinoma of lung NCIT:C7779 NCIT MONDO:0004512 meningeal melanomatosis oio:hasExactSynonym oio:hasRelatedSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal Melanomatosis NCIT:C6891 Meningeal Melanomatosis NCIT:C6891, DOID:8243 updated leptomeningeal melanomatosis NCIT:C6891 NCIT -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 updated epithelioid sarcoma NCIT:C3714 NCIT -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma NCIT:C7944 updated epithelioid sarcoma NCIT:C3714 NCIT MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C7944 Adult Epithelioid Sarcoma NCIT:C7944 updated epithelioid sarcoma NCIT:C7944 NCIT -MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C8095 Childhood Epithelioid Sarcoma NCIT:C7944 updated epithelioid sarcoma NCIT:C8095 NCIT -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 updated malignant peripheral nerve sheath tumor NCIT:C3798 NCIT -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 updated malignant peripheral nerve sheath tumor NCIT:C3798 NCIT -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumour malignant peripheral nerve sheath tumour Malignant Peripheral Nerve Sheath Tumour NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor http://purl.obolibrary.org/obo/OMO_0003005 updated malignant peripheral nerve sheath tumour NCIT:C3798 NCIT MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 updated malignant peripheral nerve sheath tumor NCIT:C7814 NCIT -MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 updated malignant peripheral nerve sheath tumor NCIT:C8094 NCIT MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis Meckel's diverticulitis Meckel's Diverticulitis NCIT:C27300 Meckel Diverticulitis NCIT:C27300 updated Meckel's diverticulitis NCIT:C27300 NCIT MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym IFS NCIT:C4244 Infantile Fibrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IFS updated IFS NCIT:C4244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma DOID:8419 updated colloid adenoma NCIT:C4161 NCIT @@ -60135,12 +58595,10 @@ MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasR MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine deficiency pyridoxine deficiency Pyridoxine Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681 updated pyridoxine deficiency NCIT:C85221 NCIT MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym vitamin B6 deficiency vitamin B6 deficiency Vitamin B6 Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681, GARD:0004616 updated vitamin B6 deficiency NCIT:C85221 NCIT MONDO:0004597 pulmonary embolism and infarction oio:hasExactSynonym oio:hasRelatedSynonym pulmonary infarction pulmonary infarction Pulmonary Infarction NCIT:C50714 Pulmonary Infarction updated pulmonary infarction NCIT:C50714 NCIT -MONDO:0004608 oropharynx cancer oio:hasExactSynonym oio:hasNarrowSynonym oropharyngeal carcinoma oropharyngeal carcinoma Oropharyngeal Carcinoma NCIT:C9105 Oropharyngeal Carcinoma DOID:8557, NCIT:C9105 updated oropharyngeal carcinoma NCIT:C9105 NCIT MONDO:0004619 measles oio:hasExactSynonym oio:hasRelatedSynonym rubeola rubeola Rubeola NCIT:C96406 Measles GARD:0003434 updated rubeola NCIT:C96406 NCIT MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of the tongue malignant neoplasm of the tongue Malignant Neoplasm of the Tongue NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345 updated malignant neoplasm of the tongue NCIT:C9345 NCIT MONDO:0004631 tongue cancer oio:hasExactSynonym oio:hasNarrowSynonym tongue neoplasm malignant stage unspecified tongue neoplasm malignant stage unspecified Tongue Neoplasm Malignant Stage Unspecified NCIT:C9345 Malignant Tongue Neoplasm NCIT:C9345, DOID:8649 updated tongue neoplasm malignant stage unspecified NCIT:C9345 NCIT MONDO:0004647 in situ carcinoma oio:hasExactSynonym oio:hasBroadSynonym CIS NCIT:C2917 Carcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2917 updated CIS NCIT:C2917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004648 vascular dementia oio:hasExactSynonym oio:hasNarrowSynonym multi infarct dementia multi infarct dementia Multi Infarct Dementia NCIT:C34522 Multi-Infarct Dementia DOID:8725, MTH:NOCODE, NCIT:C34522 updated multi infarct dementia NCIT:C34522 NCIT MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma, malignant chemodectoma, malignant CHEMODECTOMA, MALIGNANT NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated chemodectoma, malignant NCIT:C3574 NCIT MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body neoplasm malignant carotid body neoplasm Malignant Carotid Body Neoplasm NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated malignant carotid body neoplasm NCIT:C3574 NCIT MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant carotid body tumor malignant carotid body tumor Malignant Carotid Body Tumor NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated malignant carotid body tumor NCIT:C3574 NCIT @@ -60148,37 +58606,21 @@ MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRe MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant neoplasm of the carotid body malignant neoplasm of the carotid body Malignant Neoplasm of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated malignant neoplasm of the carotid body NCIT:C3574 NCIT MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of carotid body malignant tumor of carotid body Malignant Tumor of Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated malignant tumor of carotid body NCIT:C3574 NCIT MONDO:0004650 malignant carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym malignant tumor of the carotid body malignant tumor of the carotid body Malignant Tumor of the Carotid Body NCIT:C3574 Metastatic Carotid Body Paraganglioma NCIT:C3574 updated malignant tumor of the carotid body NCIT:C3574 NCIT -MONDO:0004669 salivary gland cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of major salivary gland malignant neoplasm of major salivary gland Malignant Neoplasm of Major Salivary Gland NCIT:C4762 Malignant Major Salivary Gland Neoplasm DOID:8850 updated malignant neoplasm of major salivary gland NCIT:C4762 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym oio:hasNarrowSynonym squamous intraepithelial neoplasia, grade III squamous intraepithelial neoplasia, grade III Squamous intraepithelial neoplasia, grade III NCIT:C27093 Stage 0 Squamous Cell Carcinoma DOID:8991 updated squamous intraepithelial neoplasia, grade III NCIT:C27093 NCIT -MONDO:0004701 uterine polyp oio:hasExactSynonym oio:hasNarrowSynonym polyp of endometrium polyp of endometrium Polyp of Endometrium NCIT:C6433 Endometrial Polyp NCIT:C6433, DOID:9042 updated polyp of endometrium NCIT:C6433 NCIT MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of liver inflammatory pseudotumor of liver Inflammatory Pseudotumor of Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 updated inflammatory pseudotumor of liver NCIT:C5858 NCIT MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasRelatedSynonym inflammatory pseudotumor of the liver inflammatory pseudotumor of the liver Inflammatory Pseudotumor of the Liver NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor DOID:918, NCIT:C5858 updated inflammatory pseudotumor of the liver NCIT:C5858 NCIT MONDO:0004726 liver inflammatory myofibroblastic tumor oio:hasExactSynonym oio:hasBroadSynonym liver inflammatory pseudotumor liver inflammatory pseudotumor Liver Inflammatory Pseudotumor NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor NCIT:C5858 updated liver inflammatory pseudotumor NCIT:C5858 NCIT -MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym UCD NCIT:C115200 Unicentric Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007837 updated UCD NCIT:C115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004749 myocardium cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of myocardium tumor of myocardium Tumor of Myocardium NCIT:C5349 Myocardial Neoplasm DOID:9299, NCIT:C5349 updated tumor of myocardium NCIT:C5349 NCIT -MONDO:0004777 acute laryngitis oio:hasExactSynonym oio:hasBroadSynonym laryngitis laryngitis Laryngitis NCIT:C26811 Laryngitis NCIT:C26688 updated laryngitis NCIT:C26811 NCIT -MONDO:0004796 infectious meningitis oio:hasExactSynonym oio:hasRelatedSynonym meningitis meningitis Meningitis NCIT:C26828 Meningitis DOID:9471 updated meningitis NCIT:C26828 NCIT -MONDO:0004854 ophthalmia neonatorum oio:hasExactSynonym oio:hasRelatedSynonym gonococcal ophthalmia neonatorum gonococcal ophthalmia neonatorum Gonococcal Ophthalmia Neonatorum NCIT:C116816 Gonococcal Ophthalmia Neonatorum DOID:9699 updated gonococcal ophthalmia neonatorum NCIT:C116816 NCIT MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia Areata NCIT:C50575 Alopecia NCIT:C50575 updated alopecia areata NCIT:C50575 NCIT -MONDO:0004926 dacryocystitis oio:hasExactSynonym oio:hasRelatedSynonym dacryoadenitis dacryoadenitis Dacryoadenitis NCIT:C26971 Dacryoadenitis MESH:D003607 updated dacryoadenitis NCIT:C26971 NCIT MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of stomach cancer of stomach Cancer of Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911 updated cancer of stomach NCIT:C4911 NCIT MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the stomach cancer of the stomach Cancer of the Stomach NCIT:C4911 Gastric Carcinoma NCIT:C4911, DOID:5517 updated cancer of the stomach NCIT:C4911 NCIT MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric (stomach) cancer gastric (stomach) cancer Gastric (Stomach) Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 updated gastric (stomach) cancer NCIT:C4911 NCIT MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym gastric cancer gastric cancer Gastric Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 updated gastric cancer NCIT:C4911 NCIT MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasBroadSynonym stomach cancer stomach cancer Stomach Cancer NCIT:C4911 Gastric Carcinoma NCIT:C4911 updated stomach cancer NCIT:C4911 NCIT -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of fundus of stomach cancer of fundus of stomach Cancer of Fundus of Stomach NCIT:C8398 Gastric Fundus Carcinoma MONDO:patterns/cancer updated cancer of fundus of stomach NCIT:C8398 NCIT -MONDO:0004950 gastric carcinoma oio:hasExactSynonym oio:hasNarrowSynonym gastric fundus cancer gastric fundus cancer Gastric Fundus Cancer NCIT:C8398 Gastric Fundus Carcinoma DOID:10538 updated gastric fundus cancer NCIT:C8398 NCIT -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym oio:hasRelatedSynonym PTCL NCIT:C3468 Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PTCL updated PTCL NCIT:C3468 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym lymphoblastic leukemia lymphoblastic leukemia Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia NCIT:C3167 updated lymphoblastic leukemia NCIT:C3167 NCIT -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cylindroma cylindroma Cylindroma NCIT:C27094 Cylindroma GARD:0005743 updated cylindroma NCIT:C27094 NCIT -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cribriform carcinoma cribriform carcinoma Cribriform Carcinoma NCIT:C3680 Cribriform Carcinoma GARD:0005743 updated cribriform carcinoma NCIT:C3680 NCIT MONDO:0004972 adenoma oio:hasExactSynonym oio:hasNarrowSynonym adenoma, benign adenoma, benign ADENOMA, BENIGN NCIT:C2855 Adenoma NCIT:C2855 updated adenoma, benign NCIT:C2855 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym oio:hasBroadSynonym pheochromocytoma pheochromocytoma Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma NCIT:C3326 updated pheochromocytoma NCIT:C3326 NCIT MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym AITL NCIT:C7528 Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:AITL, GARD:0011973 updated AITL NCIT:C7528 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic depressive disorder manic depressive disorder Manic Depressive Disorder NCIT:C34423 Bipolar Disorder NCIT:C34423, DOID:3312 updated manic depressive disorder NCIT:C34423 NCIT -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym bipolar depression bipolar depression Bipolar Depression NCIT:C34424 Bipolar Depression DOID:3312 updated bipolar depression NCIT:C34424 NCIT -MONDO:0004985 bipolar disorder oio:hasExactSynonym oio:hasNarrowSynonym manic bipolar affective disorder manic bipolar affective disorder Manic Bipolar Affective Disorder NCIT:C34805 Manic Bipolar Affective Disorder NCIT:C34805, DOID:3312 updated manic bipolar affective disorder NCIT:C34805 NCIT -MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C4912 updated bladder cancer NCIT:C118816 NCIT MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C4912 updated bladder cancer NCIT:C4912 NCIT MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of bladder cancer of bladder Cancer of Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 updated cancer of bladder NCIT:C4912 NCIT MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the bladder cancer of the bladder Cancer of the Bladder NCIT:C4912 Bladder Carcinoma NCIT:C4912 updated cancer of the bladder NCIT:C4912 NCIT @@ -60188,25 +58630,17 @@ MONDO:0004986 urinary bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym breast cancer breast cancer Breast Cancer NCIT:C4872 Breast Carcinoma NCIT:C4872 updated breast cancer NCIT:C4872 NCIT MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of breast cancer of breast Cancer of Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 updated cancer of breast NCIT:C4872 NCIT MONDO:0004989 breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the breast cancer of the breast Cancer of the Breast NCIT:C4872 Breast Carcinoma NCIT:C4872 updated cancer of the breast NCIT:C4872 NCIT -MONDO:0004993 carcinoma oio:hasExactSynonym oio:hasBroadSynonym epithelioma epithelioma Epithelioma NCIT:C3709 Epithelial Neoplasm DOID:305 updated epithelioma NCIT:C3709 NCIT -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 updated acute myeloid leukemia (AML) NCIT:C3171 NCIT -MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia NCIT:C9160 updated acute myeloid leukemia (AML) NCIT:C3171 NCIT MONDO:0004996 childhood acute myeloid leukemia oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C9160 Childhood Acute Myeloid Leukemia NCIT:C9160 updated acute myeloid leukemia (AML) NCIT:C9160 NCIT MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 updated clear cell carcinoma NCIT:C3766 NCIT MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 updated clear cell carcinoma NCIT:C3766 NCIT MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell adenocarcinoma mesonephroid clear cell adenocarcinoma Mesonephroid Clear Cell Adenocarcinoma NCIT:C3766 Clear Cell Adenocarcinoma NCIT:C3766 updated mesonephroid clear cell adenocarcinoma NCIT:C3766 NCIT MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroid clear cell carcinoma mesonephroid clear cell carcinoma Mesonephroid Clear Cell Carcinoma NCIT:C3766 Clear Cell Adenocarcinoma DOID:4468, NCIT:C3766 updated mesonephroid clear cell carcinoma NCIT:C3766 NCIT -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym Wolffian duct neoplasm Wolffian duct neoplasm Wolffian Duct Neoplasm NCIT:C40141 Wolffian Tumor DOID:4468 updated Wolffian duct neoplasm NCIT:C40141 NCIT -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant mesonephroma malignant mesonephroma Malignant Mesonephroma NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468, NCIT:C4072 updated malignant mesonephroma NCIT:C4072 NCIT -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym mesonephroma, malignant mesonephroma, malignant Mesonephroma, malignant NCIT:C4072 Mesonephric Adenocarcinoma DOID:4468 updated mesonephroma, malignant NCIT:C4072 NCIT -MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell carcinoma clear cell carcinoma Clear cell carcinoma NCIT:C8028 Endometrial Clear Cell Adenocarcinoma NCIT:C3766 updated clear cell carcinoma NCIT:C8028 NCIT MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma hypernephroma Hypernephroma NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED NCIT:C4033 updated hypernephroma NCIT:C4033 NCIT MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive Cardiomyopathy NCIT:C84673 Dilated Cardiomyopathy DOID:12930 updated congestive cardiomyopathy NCIT:C84673 NCIT MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast ductal carcinoma in situ breast ductal carcinoma in situ Breast Ductal Carcinoma In Situ NCIT:C2924 Breast Ductal Carcinoma In Situ ONCOTREE:DCIS updated breast ductal carcinoma in situ NCIT:C2924 NCIT -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia NCIT:C3407, GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET NCIT:C3407 Essential Thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 updated ET NCIT:C3407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym thyroid gland adenocarcinoma thyroid gland adenocarcinoma Thyroid Gland Adenocarcinoma NCIT:C27380 Thyroid Gland Adenocarcinoma MONDO:patterns/location updated thyroid gland adenocarcinoma NCIT:C27380 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated follicular adenocarcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated NCIT:C8054 Thyroid Gland Follicular Carcinoma DOID:3962 updated follicular adenocarcinoma, well differentiated NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of the thyroid follicular cancer of the thyroid Follicular Cancer of the Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated follicular cancer of the thyroid NCIT:C8054 NCIT @@ -60214,31 +58648,19 @@ MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid follicular cancer of thyroid Follicular Cancer of Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated follicular cancer of thyroid NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid gland follicular cancer of thyroid gland Follicular Cancer of Thyroid Gland NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated follicular cancer of thyroid gland NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland follicular cancer thyroid gland follicular cancer Thyroid Gland Follicular Cancer NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated thyroid gland follicular cancer NCIT:C8054 NCIT -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated well-differentiated follicular carcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-Differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated well-differentiated follicular carcinoma NCIT:C8054 NCIT +MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma NCIT:C8054 updated well-differentiated follicular carcinoma NCIT:C8054 NCIT MONDO:0005036 gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym STAD NCIT:C4004 Gastric Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:STAD updated STAD NCIT:C4004 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension hypertension Hypertension NCIT:C3117 Hypertension DOID:10763 updated hypertension NCIT:C3117 NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN NCIT:C3117 Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:10763 updated HTN NCIT:C3117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005045 hypertrophic cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy NCIT:C84773 Familial Hypertrophic Cardiomyopathy DOID:11984 updated familial hypertrophic cardiomyopathy NCIT:C84773 NCIT MONDO:0005047 infertility disorder oio:hasExactSynonym oio:hasRelatedSynonym infertility infertility Infertility NCIT:C3836 Infertility DOID:5223 updated infertility NCIT:C3836 NCIT -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma DOID:3457 updated lobular carcinoma NCIT:C3771 NCIT -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym oio:hasBroadSynonym lobular carcinoma of the breast lobular carcinoma of the breast Lobular Carcinoma of the Breast NCIT:C3771 Breast Lobular Carcinoma DOID:3457 updated lobular carcinoma of the breast NCIT:C3771 NCIT MONDO:0005053 ischemic disease oio:hasExactSynonym oio:hasRelatedSynonym ischemia ischemia Ischemia NCIT:C34738 Ischemia DOID:326, NCIT:C34738 updated ischemia NCIT:C34738 NCIT -MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 updated multiple hemorrhagic sarcoma NCIT:C9087 NCIT MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple Hemorrhagic Sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 updated multiple hemorrhagic sarcoma NCIT:C9087 NCIT +MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym oio:hasNarrowSynonym multiple hemorrhagic sarcoma multiple hemorrhagic sarcoma Multiple hemorrhagic sarcoma NCIT:C9087 Kaposi Sarcoma NCIT:C9087 updated multiple hemorrhagic sarcoma NCIT:C9087 NCIT MONDO:0005063 medullary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast medullary carcinoma breast medullary carcinoma Breast Medullary Carcinoma NCIT:C9119 Breast Medullary Carcinoma DOID:5605 updated breast medullary carcinoma NCIT:C9119 NCIT MONDO:0005070 neoplasm oio:hasExactSynonym oio:hasNarrowSynonym other neoplasm other neoplasm Other Neoplasm NCIT:C3262 Neoplasm NCIT:C3262 updated other neoplasm NCIT:C3262 NCIT -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy DOID:10591 updated toxemia of pregnancy NCIT:C34943 NCIT MONDO:0005082 prostate adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym PRAD prad PRAD NCIT:C2919 Prostate Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PRAD updated PRAD NCIT:C2919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005089 sarcoma oio:hasExactSynonym oio:hasRelatedSynonym tumor of soft tissue and skeleton tumor of soft tissue and skeleton Tumor of Soft Tissue and Skeleton NCIT:C3810 Connective and Soft Tissue Neoplasm NCIT:C3810, DOID:1115 updated tumor of soft tissue and skeleton NCIT:C3810 NCIT -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective Disorder NCIT:C94378 Schizoaffective Disorder OMIM:181500 updated schizoaffective disorder NCIT:C94378 NCIT -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C4301 Malignant Hemangiopericytoma DOID:264 updated malignant hemangiopericytoma NCIT:C4301 NCIT -MONDO:0005094 hemangiopericytoma oio:hasExactSynonym oio:hasNarrowSynonym malignant hemangiopericytoma malignant hemangiopericytoma Malignant Hemangiopericytoma NCIT:C8090 Malignant Childhood Hemangiopericytoma DOID:264 updated malignant hemangiopericytoma NCIT:C8090 NCIT MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke NCIT:C3390 updated cerebral infarction NCIT:C3390 NCIT -MONDO:0005098 stroke disorder oio:hasExactSynonym oio:hasRelatedSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction NCIT:C3390 updated cerebral infarction NCIT:C50486 NCIT -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma NCIT:C26746 Scleroderma DOID:418 updated Scleroderma NCIT:C26746 NCIT -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous neoplasm lipomatous neoplasm Lipomatous Neoplasm NCIT:C4248 Lipomatous Neoplasm DOID:3315 updated lipomatous neoplasm NCIT:C4248 NCIT -MONDO:0005106 lipoma oio:hasExactSynonym oio:hasRelatedSynonym lipomatous tumor lipomatous tumor Lipomatous Tumor NCIT:C4248 Lipomatous Neoplasm NCIT:C4248, DOID:3315 updated lipomatous tumor NCIT:C4248 NCIT MONDO:0005109 HIV infectious disease oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus infectious disease human immunodeficiency virus infectious disease Human Immunodeficiency Virus Infectious Disease NCIT:C3108 HIV Infection DOID:526 updated human immunodeficiency virus infectious disease NCIT:C3108 NCIT MONDO:0005116 Whipple disease oio:hasExactSynonym oio:hasRelatedSynonym Whipple's disease Whipple's disease Whipple's Disease NCIT:C85228 Whipple Disease ICD9CM:040.2, DOID:8476 updated Whipple's disease NCIT:C85228 NCIT MONDO:0005131 cervical carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of cervix cancer of cervix Cancer of Cervix NCIT:C9039 Cervical Carcinoma DOID:2893, NCIT:C9039 updated cancer of cervix NCIT:C9039 NCIT @@ -60253,17 +58675,15 @@ MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of t MONDO:0005138 lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym lung cancer lung cancer Lung Cancer NCIT:C4878 Lung Carcinoma NCIT:C4878 updated lung cancer NCIT:C4878 NCIT MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 updated ovarian cancer NCIT:C4908 NCIT MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian epithelial cancer ovarian epithelial cancer Ovarian Epithelial Cancer NCIT:C4908 Ovarian Carcinoma NCIT:C4908 updated ovarian epithelial cancer NCIT:C4908 NCIT -MONDO:0005140 ovarian carcinoma oio:hasExactSynonym oio:hasBroadSynonym ovarian cancer ovarian cancer Ovarian Cancer NCIT:C7431 Malignant Ovarian Neoplasm NCIT:C4908 updated ovarian cancer NCIT:C7431 NCIT MONDO:0005146 post-traumatic stress disorder oio:hasExactSynonym oio:hasNarrowSynonym combat neurosis combat neurosis Combat Neurosis NCIT:C3389 Post-Traumatic Stress Disorder NCIT:C3389 updated combat neurosis NCIT:C3389 NCIT MONDO:0005155 cirrhosis of liver oio:hasExactSynonym oio:hasRelatedSynonym liver cirrhosis liver cirrhosis Liver Cirrhosis NCIT:C2951 Cirrhosis DOID:5082 updated liver cirrhosis NCIT:C2951 NCIT MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of prostate cancer of prostate Cancer of Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 updated cancer of prostate NCIT:C4863 NCIT MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer of the prostate cancer of the prostate Cancer of the Prostate NCIT:C4863 Prostate Carcinoma NCIT:C4863 updated cancer of the prostate NCIT:C4863 NCIT MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer prostate cancer Prostate Cancer NCIT:C4863 Prostate Carcinoma NCIT:C4863 updated prostate cancer NCIT:C4863 NCIT -MONDO:0005164 fibrosarcoma oio:hasExactSynonym oio:hasBroadSynonym fibrocytic tumor fibrocytic tumor Fibrocytic Tumor NCIT:C7075 Fibroblastic Neoplasm DOID:3355, NCIT:C7075 updated fibrocytic tumor NCIT:C7075 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor benign tumor Benign Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 updated benign tumor NCIT:C3677 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign unclassifiable tumor benign unclassifiable tumor Benign Unclassifiable Tumor NCIT:C3677 Benign Neoplasm NCIT:C3677 updated benign unclassifiable tumor NCIT:C3677 NCIT -MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 updated neoplasm, benign NCIT:C3677 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign NEOPLASM, BENIGN NCIT:C3677 Benign Neoplasm NCIT:C3677 updated neoplasm, benign NCIT:C3677 NCIT +MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm NCIT:C3677 updated neoplasm, benign NCIT:C3677 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis Senile hyperkeratosis Senile Hyperkeratosis NCIT:C3148 Actinic Keratosis DOID:8866 updated Senile hyperkeratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile keratosis Senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 updated Senile keratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis NCIT:C3148 updated senile keratosis NCIT:C3148 NCIT @@ -60284,62 +58704,33 @@ MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the hypopharynx cancer of the hypopharynx Cancer of the Hypopharynx NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 updated cancer of the hypopharynx NCIT:C9465 NCIT MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal cancer hypopharyngeal cancer Hypopharyngeal Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 updated hypopharyngeal cancer NCIT:C9465 NCIT MONDO:0005216 hypopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym hypopharyngeal throat cancer hypopharyngeal throat cancer Hypopharyngeal Throat Cancer NCIT:C9465 Hypopharyngeal Carcinoma NCIT:C9465 updated hypopharyngeal throat cancer NCIT:C9465 NCIT -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 updated renal medullary carcinoma NCIT:C7572 NCIT -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma NCIT:C7572 Kidney Medullary Carcinoma DOID:4464, NCIT:C7572 updated renal medullary carcinoma NCIT:C7572 NCIT MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infection urinary tract infection Urinary Tract Infection NCIT:C50791 Urinary Tract Infection MONDO:ambiguous updated urinary tract infection NCIT:C50791 NCIT MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym urinary tract infectious disease urinary tract infectious disease Urinary Tract Infectious Disease NCIT:C50791 Urinary Tract Infection NCIT:C50791 updated urinary tract infectious disease NCIT:C50791 NCIT MONDO:0005247 bacterial urinary tract infection oio:hasExactSynonym oio:hasBroadSynonym UTI NCIT:C50791 Urinary Tract Infection http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C50791 updated UTI NCIT:C50791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005260 autism oio:hasExactSynonym oio:hasBroadSynonym autism spectrum disorder autism spectrum disorder Autism Spectrum Disorder NCIT:C88412 Autism Spectrum Disorder OMIM:209850 updated autism spectrum disorder NCIT:C88412 NCIT MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder autistic disorder Autistic Disorder NCIT:C97161 Autism OMIM:209850 updated autistic disorder NCIT:C97161 NCIT -MONDO:0005271 allergic disease oio:hasExactSynonym oio:hasRelatedSynonym hypersensitivity hypersensitivity Hypersensitivity NCIT:C3114 Hypersensitivity DOID:1205 updated hypersensitivity NCIT:C3114 NCIT MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym aregenerative anemia aregenerative anemia Aregenerative Anemia NCIT:C2872 Refractory Anemia NCIT:C2872 updated aregenerative anemia NCIT:C2872 NCIT -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous cystadenocarcinoma serous cystadenocarcinoma Serous Cystadenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma DOID:3114 updated serous cystadenocarcinoma NCIT:C3778 NCIT -MONDO:0005278 serous adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym serous carcinoma serous carcinoma Serous carcinoma NCIT:C7550 Ovarian Serous Adenocarcinoma DOID:3114 updated serous carcinoma NCIT:C7550 NCIT MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic Renal Insufficiency NCIT:C80078 Chronic Kidney Disease NCIT:C80078 updated chronic renal insufficiency NCIT:C80078 NCIT MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym necrotizing enterocolitis in fetus or newborn necrotizing enterocolitis in fetus or newborn Necrotizing Enterocolitis in Fetus or Newborn NCIT:C84915 Necrotizing Enterocolitis NCIT:C84915 updated necrotizing enterocolitis in fetus or newborn NCIT:C84915 NCIT MONDO:0005316 bacterial vaginosis oio:hasExactSynonym oio:hasBroadSynonym BV NCIT:C116973 Bacterial Vaginosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C116973 updated BV NCIT:C116973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous Stomatitis NCIT:C62546 Canker Sore NCIT:C62546 updated aphthous stomatitis NCIT:C62546 NCIT MONDO:0005318 canker sore oio:hasExactSynonym oio:hasRelatedSynonym aphthous stomatitis aphthous stomatitis Aphthous stomatitis NCIT:C62546 Canker Sore NCIT:C62546 updated aphthous stomatitis NCIT:C62546 NCIT -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C156767 Basal Cell Carcinoma NCIT:C2921 updated basal cell carcinoma NCIT:C156767 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell cancer basal cell cancer Basal Cell Cancer NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921, DOID:2513 updated basal cell cancer NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell carcinoma basal cell carcinoma Basal Cell Carcinoma NCIT:C2921 Skin Basal Cell Carcinoma NCIT:C2921 updated basal cell carcinoma NCIT:C2921 NCIT MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym BCC NCIT:C2921 Skin Basal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C2921 updated BCC NCIT:C2921 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal cell tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 updated basal cell tumor NCIT:C3784 NCIT -MONDO:0005341 skin basal cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym basal cell tumor basal cell tumor Basal Cell Tumor NCIT:C3784 Basal Cell Neoplasm NCIT:C3784, DOID:2513 updated basal cell tumor NCIT:C3784 NCIT MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease DOID:11949 updated Creutzfeldt-Jakob disease NCIT:C26802 NCIT MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Basedow disease Basedow disease Basedow Disease NCIT:C3071 Graves Disease GARD:0006549 updated Basedow disease NCIT:C3071 NCIT MONDO:0005364 Graves disease oio:hasExactSynonym oio:hasRelatedSynonym Graves' disease Graves' disease Graves' Disease NCIT:C3071 Graves Disease DOID:12361 updated Graves' disease NCIT:C3071 NCIT -MONDO:0005374 bone marrow neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant bone marrow tumor malignant bone marrow tumor Malignant Bone Marrow Tumor NCIT:C35501 Malignant Bone Marrow Neoplasm DOID:4960 updated malignant bone marrow tumor NCIT:C35501 NCIT MONDO:0005377 nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephrosis nephrosis Nephrosis NCIT:C34845 Nephrotic Syndrome NCIT:C34845 updated nephrosis NCIT:C34845 NCIT -MONDO:0005379 neurotic disorder oio:hasExactSynonym oio:hasNarrowSynonym neurotic depression neurotic depression Neurotic Depression NCIT:C35369 Neurotic Depression DOID:4964 updated neurotic depression NCIT:C35369 NCIT MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C3292 Bone Paget Disease NCIT:C3292 updated Paget's disease NCIT:C3292 NCIT -MONDO:0005382 bone Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget's disease Paget's disease Paget's Disease NCIT:C7073 Paget Disease NCIT:C3292 updated Paget's disease NCIT:C7073 NCIT MONDO:0005386 peripheral arterial disease oio:hasExactSynonym oio:hasRelatedSynonym peripheral artery disease peripheral artery disease Peripheral Artery Disease NCIT:C84496 Peripheral Artery Disease DOID:0050830 updated peripheral artery disease NCIT:C84496 NCIT MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotropic hypogonadism (female) hypergonadotropic hypogonadism (female) Hypergonadotropic Hypogonadism (Female) NCIT:C113352 Primary Ovarian Failure NCIT:C113352 updated hypergonadotropic hypogonadism (female) NCIT:C113352 NCIT -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature menopause premature menopause Premature Menopause NCIT:C80099 Premature Menopause DOID:5426 updated premature menopause NCIT:C80099 NCIT -MONDO:0005387 primary ovarian failure oio:hasExactSynonym oio:hasRelatedSynonym premature ovarian failure premature ovarian failure Premature Ovarian Failure NCIT:C80099 Premature Menopause MESH:D016649, Orphanet:619 updated premature ovarian failure NCIT:C80099 NCIT MONDO:0005391 restless legs syndrome oio:hasExactSynonym oio:hasBroadSynonym RLS NCIT:C84501 Restless Leg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C84501 updated RLS NCIT:C84501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym gallbladder neoplasm gallbladder neoplasm Gallbladder Neoplasm NCIT:C3048 Gallbladder Neoplasm DOID:3121, MTH:NOCODE updated gallbladder neoplasm NCIT:C3048 NCIT -MONDO:0005411 gallbladder cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the gallbladder tumor of the gallbladder Tumor of the Gallbladder NCIT:C3048 Gallbladder Neoplasm NCIT:C3048, DOID:3121 updated tumor of the gallbladder NCIT:C3048 NCIT MONDO:0005439 familial hypercholesterolemia oio:hasExactSynonym oio:hasRelatedSynonym type II hyperlipidemia type II hyperlipidemia Type II Hyperlipidemia NCIT:C34704 Hyperlipoproteinemia, Type II DOID:13810, NCIT:C34704 updated type II hyperlipidemia NCIT:C34704 NCIT -MONDO:0005447 testicular cancer oio:hasExactSynonym oio:hasBroadSynonym testicular tumor testicular tumor Testicular Tumor NCIT:C3404 Testicular Neoplasm DOID:2998, NCIT:C3404 updated testicular tumor NCIT:C3404 NCIT -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma Endometrial Endometrioid Adenocarcinoma NCIT:C6287 Endometrial Endometrioid Adenocarcinoma DOID:2870 updated endometrial endometrioid adenocarcinoma NCIT:C6287 NCIT -MONDO:0005461 endometrium adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym endometrioid carcinoma of endometrium endometrioid carcinoma of endometrium Endometrioid Carcinoma of Endometrium NCIT:C6287 Endometrial Endometrioid Adenocarcinoma NCIT:C6287, DOID:2870 updated endometrioid carcinoma of endometrium NCIT:C6287 NCIT MONDO:0005462 primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor NCIT:C3716 updated neuroepithelioma NCIT:C3716 NCIT MONDO:0005496 bile duct carcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma NCIT:C27814 updated bile duct cancer NCIT:C27814 NCIT -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne Botulism NCIT:C128341 Foodborne Botulism DOID:11976 updated foodborne botulism NCIT:C128341 NCIT MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym hereditary multiple exostoses hereditary multiple exostoses Hereditary Multiple Exostoses NCIT:C5183 Hereditary Multiple Exostoses GARD:0007035 updated hereditary multiple exostoses NCIT:C5183 NCIT -MONDO:0005512 malignant peritoneal mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym peritoneal mesothelioma peritoneal mesothelioma Peritoneal Mesothelioma NCIT:C7633 Peritoneal Mesothelial Neoplasm DOID:1788 updated peritoneal mesothelioma NCIT:C7633 NCIT -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasRelatedSynonym mouth cancer mouth cancer Mouth Cancer NCIT:C8990 Oral Cavity Carcinoma updated mouth cancer NCIT:C8990 NCIT -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm of floor of mouth malignant neoplasm of floor of mouth Malignant Neoplasm of Floor of Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm MTH:NOCODE, DOID:8618 updated malignant neoplasm of floor of mouth NCIT:C9318 NCIT -MONDO:0005515 oral cavity cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of the floor of the mouth malignant tumor of the floor of the mouth Malignant Tumor of the Floor of the Mouth NCIT:C9318 Malignant Floor of the Mouth Neoplasm NCIT:C9318, DOID:8618 updated malignant tumor of the floor of the mouth NCIT:C9318 NCIT -MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasNarrowSynonym cartilage development disorder cartilage development disorder Cartilage Development Disorder NCIT:C34466 Cartilage Development Disorder DOID:2256, NCIT:C34466 updated cartilage development disorder NCIT:C34466 NCIT MONDO:0005516 osteochondrodysplasia oio:hasExactSynonym oio:hasRelatedSynonym skeletal dysplasia skeletal dysplasia Skeletal Dysplasia NCIT:C84978 Osteochondrodysplasia NCIT:C84978 updated skeletal dysplasia NCIT:C84978 NCIT -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasBroadSynonym pharynx neoplasm pharynx neoplasm Pharynx Neoplasm NCIT:C3325 Pharyngeal Neoplasm DOID:0060119 updated pharynx neoplasm NCIT:C3325 NCIT -MONDO:0005517 pharynx cancer oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal cancer pharyngeal cancer Pharyngeal Cancer NCIT:C9466 Pharyngeal Carcinoma DOID:0060119 updated pharyngeal cancer NCIT:C9466 NCIT MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym renal pelvis cancer renal pelvis cancer Renal Pelvis Cancer NCIT:C6142 Renal Pelvis Carcinoma MONDO:patterns/location, DOID:4919 updated renal pelvis cancer NCIT:C6142 NCIT -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer updated malignant neoplasm of renal pelvis NCIT:C7525 NCIT -MONDO:0005519 renal pelvis carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant renal pelvis neoplasm malignant renal pelvis neoplasm Malignant Renal Pelvis Neoplasm NCIT:C7525 Malignant Renal Pelvis Neoplasm DOID:4919, MONDO:patterns/cancer, NCIT:C7525 updated malignant renal pelvis neoplasm NCIT:C7525 NCIT MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of small bowel cancer of small bowel Cancer of Small Bowel NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 updated cancer of small bowel NCIT:C7724 NCIT MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the small bowel cancer of the small bowel Cancer of the Small Bowel NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 updated cancer of the small bowel NCIT:C7724 NCIT MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small bowel cancer small bowel cancer Small Bowel Cancer NCIT:C7724 Small Intestinal Carcinoma DOID:4907, NCIT:C7724 updated small bowel cancer NCIT:C7724 NCIT @@ -60347,24 +58738,18 @@ MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0005522 small intestine carcinoma oio:hasExactSynonym oio:hasBroadSynonym small intestine cancer small intestine cancer Small Intestine Cancer NCIT:C7724 Small Intestinal Carcinoma NCIT:C7724 updated small intestine cancer NCIT:C7724 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym renal cell carcinoma renal cell carcinoma Renal Cell Carcinoma NCIT:C9385 Renal Cell Carcinoma NCIT:C9385 updated renal cell carcinoma NCIT:C9385 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym oio:hasNarrowSynonym clinical infection clinical infection Clinical Infection NCIT:C26726 Infectious Disorder NCIT:C26726 updated clinical infection NCIT:C26726 NCIT -MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C26729 Connective Tissue Disorder NCIT:C27204 updated connective tissue disease NCIT:C26729 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen disease collagen disease Collagen Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 updated collagen disease NCIT:C27204 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym collagen vascular disease collagen vascular disease Collagen Vascular Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 updated collagen vascular disease NCIT:C27204 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym connective tissue disease connective tissue disease Connective Tissue Disease NCIT:C27204 Rheumatologic Disorder NCIT:C27204 updated connective tissue disease NCIT:C27204 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204 updated inflammatory rheumatism NCIT:C27204 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym musculoskeletal pain disorder musculoskeletal pain disorder Musculoskeletal Pain Disorder NCIT:C27204 Rheumatologic Disorder NCIT:C27204 updated musculoskeletal pain disorder NCIT:C27204 NCIT MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym rheumatism rheumatism Rheumatism NCIT:C27204 Rheumatologic Disorder NCIT:C27204, MESH:D012216 updated rheumatism NCIT:C27204 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym large intestine cancer large intestine cancer Large Intestine Cancer NCIT:C2955 Colorectal Carcinoma DOID:5672 updated large intestine cancer NCIT:C2955 NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC NCIT:C2955 Colorectal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical updated CRC NCIT:C2955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer colon cancer Colon Cancer NCIT:C4910 Colon Carcinoma OMIM:114500 updated colon cancer NCIT:C4910 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct adenocarcinoma duct adenocarcinoma Duct Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 updated duct adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma duct carcinoma Duct Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 updated duct carcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 updated ductal adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 updated ductal adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal carcinoma ductal carcinoma Ductal Carcinoma NCIT:C4017 Breast Ductal Carcinoma NCIT:C4017 updated ductal carcinoma NCIT:C4017 NCIT MONDO:0005618 anxiety disorder oio:hasExactSynonym oio:hasBroadSynonym anxiety anxiety Anxiety NCIT:C2878 Anxiety Disorder DOID:2030, NCIT:C2878 updated anxiety NCIT:C2878 NCIT -MONDO:0005627 head and neck cancer oio:hasExactSynonym oio:hasBroadSynonym head and neck neoplasm head and neck neoplasm Head and Neck Neoplasm NCIT:C3077 Head and Neck Neoplasm DOID:11934, MTH:NOCODE updated head and neck neoplasm NCIT:C3077 NCIT -MONDO:0005634 acute hemorrhagic conjunctivitis oio:hasExactSynonym oio:hasRelatedSynonym viral conjunctivitis viral conjunctivitis Viral Conjunctivitis NCIT:C34509 Viral Conjunctivitis DOID:11227 updated viral conjunctivitis NCIT:C34509 NCIT MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis acute appendicitis Acute Appendicitis NCIT:C35145 Appendicitis DOID:8337 updated acute appendicitis NCIT:C35145 NCIT MONDO:0005665 Bell's palsy oio:hasExactSynonym oio:hasRelatedSynonym facial palsy facial palsy Facial Palsy NCIT:C26769 Cranial Nerve VII Palsy NCIT:C26769 updated facial palsy NCIT:C26769 NCIT MONDO:0005668 bird fancier's lung oio:hasExactSynonym oio:hasRelatedSynonym bird-breeder's lung bird-breeder's lung Bird-Breeder's Lung NCIT:C34425 Bird Fancier's Lung NCIT:C34425 updated bird-breeder's lung NCIT:C34425 NCIT @@ -60377,27 +58762,12 @@ MONDO:0005758 eunuchism oio:hasExactSynonym oio:hasRelatedSynonym hypergonadotro MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym Elephantiasis NCIT:C128360 Lymphatic Filariasis NORD:1082 updated Elephantiasis NCIT:C128360 NCIT MONDO:0005761 filarial elephantiasis oio:hasExactSynonym oio:hasBroadSynonym elephantiasis elephantiasis Elephantiasis NCIT:C128360 Lymphatic Filariasis NCIT:C128360, GARD:0003321 updated elephantiasis NCIT:C128360 NCIT MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemorrhagic fever with renal syndrome hemorrhagic fever with renal syndrome Hemorrhagic Fever with Renal Syndrome NCIT:C84753 Hemorrhagic Fever with Renal Syndrome DOID:11266 updated hemorrhagic fever with renal syndrome NCIT:C84753 NCIT -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym islet cell tumor islet cell tumor Islet Cell Tumor NCIT:C27720 Pancreatic Neuroendocrine Tumor DOID:1799 updated islet cell tumor NCIT:C27720 NCIT -MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant pancreatic endocrine tumor malignant pancreatic endocrine tumor Malignant Pancreatic Endocrine Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma DOID:1799, NCIT:C3770 updated malignant pancreatic endocrine tumor NCIT:C3770 NCIT MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym Weil disease Weil disease Weil Disease NCIT:C84825 Leptospirosis GARD:0007881 updated Weil disease NCIT:C84825 NCIT MONDO:0005827 lipoatrophic diabetes oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes mellitus lipoatrophic diabetes mellitus Lipoatrophic Diabetes Mellitus NCIT:C34537 Lipoatrophic Diabetes Mellitus MESH:D003923 updated lipoatrophic diabetes mellitus NCIT:C34537 NCIT MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasRelatedSynonym adenopathy adenopathy Adenopathy NCIT:C50764 Lymphadenopathy DOID:75 updated adenopathy NCIT:C50764 NCIT MONDO:0005833 lymphatic system disorder oio:hasExactSynonym oio:hasNarrowSynonym lymphadenopathy lymphadenopathy Lymphadenopathy NCIT:C50764 Lymphadenopathy NCIT:C50764 updated lymphadenopathy NCIT:C50764 NCIT -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary Nonpolyposis Colorectal Cancer NCIT:C120083 Hereditary Nonpolyposis Colorectal Cancer Syndrome DOID:3883 updated hereditary nonpolyposis colorectal cancer NCIT:C120083 NCIT -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym male reproductive system neoplasm male reproductive system neoplasm Male Reproductive System Neoplasm NCIT:C3054 Male Reproductive System Neoplasm DOID:3856 updated male reproductive system neoplasm NCIT:C3054 NCIT -MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of male reproductive system tumor of male reproductive system Tumor of Male Reproductive System NCIT:C3054 Male Reproductive System Neoplasm DOID:3856, NCIT:C3054 updated tumor of male reproductive system NCIT:C3054 NCIT -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym mediastinal tumor mediastinal tumor Mediastinal Tumor NCIT:C3221 Mediastinal Neoplasm DOID:5559, NCIT:C3221 updated mediastinal tumor NCIT:C3221 NCIT -MONDO:0005843 mediastinal cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of mediastinum tumor of mediastinum Tumor of Mediastinum NCIT:C3221 Mediastinal Neoplasm DOID:5559 updated tumor of mediastinum NCIT:C3221 NCIT -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed neoplasm mixed neoplasm Mixed Neoplasm NCIT:C6930 Mixed Neoplasm DOID:154 updated mixed neoplasm NCIT:C6930 NCIT -MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym oio:hasBroadSynonym mixed tumor mixed tumor Mixed Tumor NCIT:C6930 Mixed Neoplasm DOID:154, NCIT:C6930 updated mixed tumor NCIT:C6930 NCIT -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym nervous system neoplasm nervous system neoplasm Nervous System Neoplasm NCIT:C3268 Nervous System Neoplasm DOID:3093 updated nervous system neoplasm NCIT:C3268 NCIT -MONDO:0005872 nervous system cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the nervous system tumor of the nervous system Tumor of the Nervous System NCIT:C3268 Nervous System Neoplasm DOID:3093, NCIT:C3268 updated tumor of the nervous system NCIT:C3268 NCIT MONDO:0005886 oral candidiasis oio:hasExactSynonym oio:hasBroadSynonym thrush thrush Thrush NCIT:C28137 Oral Candidiasis DOID:14262, NCIT:C28137 updated thrush NCIT:C28137 NCIT -MONDO:0005941 retroperitoneal cancer oio:hasExactSynonym oio:hasBroadSynonym retroperitoneal neoplasm retroperitoneal neoplasm Retroperitoneal Neoplasm NCIT:C3357 Retroperitoneal Neoplasm NCIT:C3357, DOID:5875 updated retroperitoneal neoplasm NCIT:C3357 NCIT -MONDO:0005965 spinal stenosis oio:hasExactSynonym oio:hasNarrowSynonym lumbar spinal stenosis lumbar spinal stenosis Lumbar Spinal Stenosis NCIT:C177445 Lumbar Spinal Stenosis DOID:6725 updated lumbar spinal stenosis NCIT:C177445 NCIT -MONDO:0005966 spleen cancer oio:hasExactSynonym oio:hasBroadSynonym splenic neoplasm splenic neoplasm Splenic Neoplasm NCIT:C3383 Splenic Neoplasm DOID:672, NCIT:C3383 updated splenic neoplasm NCIT:C3383 NCIT MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection whipworm infection Whipworm Infection NCIT:C128399 Trichuriasis GARD:0010720 updated whipworm infection NCIT:C128399 NCIT -MONDO:0006003 uterine corpus cancer oio:hasExactSynonym oio:hasRelatedSynonym endometrial cancer endometrial cancer Endometrial Cancer NCIT:C7558 Endometrial Carcinoma NCIT:C61574 updated endometrial cancer NCIT:C7558 NCIT MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever Venezuelan equine fever Venezuelan Equine Fever NCIT:C35121 Venezuelan Equine Fever DOID:9584, ICD9CM:066.2 updated Venezuelan equine fever NCIT:C35121 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym oio:hasRelatedSynonym warty carcinoma warty carcinoma Warty carcinoma NCIT:C3781 Verrucous Carcinoma DOID:3737 updated warty carcinoma NCIT:C3781 NCIT MONDO:0006029 cecum carcinoma oio:hasExactSynonym oio:hasBroadSynonym cecal cancer cecal cancer Cecal Cancer NCIT:C3491 Cecum Carcinoma NCIT:C3491, DOID:1519 updated cecal cancer NCIT:C3491 NCIT @@ -60424,13 +58794,8 @@ MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym oio:hasRelated MONDO:0006270 lobular breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast lobular carcinoma in situ breast lobular carcinoma in situ Breast Lobular Carcinoma In Situ NCIT:C4018 Breast Lobular Carcinoma In Situ ONCOTREE:LCIS updated breast lobular carcinoma in situ NCIT:C4018 NCIT MONDO:0006271 low grade central osteosarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade central osteosarcoma low-grade central osteosarcoma Low-grade central osteosarcoma NCIT:C6474 Low Grade Central Osteosarcoma ONCOTREE:LGCOS updated low-grade central osteosarcoma NCIT:C6474 NCIT MONDO:0006272 low grade fibromyxoid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym low-grade fibromyxoid sarcoma low-grade fibromyxoid sarcoma Low-grade fibromyxoid sarcoma NCIT:C45202 Low Grade Fibromyxoid Sarcoma ONCOTREE:LGFMS updated low-grade fibromyxoid sarcoma NCIT:C45202 NCIT -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis NORD:1381 updated Lymphangioleiomyomatosis NCIT:C3725 NCIT -MONDO:0006277 lung lymphangioleiomyomatosis oio:hasExactSynonym oio:hasBroadSynonym lymphangioleiomyomatosis lymphangioleiomyomatosis Lymphangioleiomyomatosis NCIT:C3725 Lymphangioleiomyomatosis DOID:3319 updated lymphangioleiomyomatosis NCIT:C3725 NCIT -MONDO:0006282 lymphangiosarcoma oio:hasExactSynonym oio:hasRelatedSynonym lymphangiosarcoma of Stewart and Treves lymphangiosarcoma of Stewart and Treves Lymphangiosarcoma of Stewart and Treves NCIT:C4490 Skin Lymphangiosarcoma NCIT:C4490, DOID:2689 updated lymphangiosarcoma of Stewart and Treves NCIT:C4490 NCIT MONDO:0006284 major salivary gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym major salivary gland cancer major salivary gland cancer Major Salivary Gland Cancer NCIT:C5907 Major Salivary Gland Carcinoma NCIT:C5907 updated major salivary gland cancer NCIT:C5907 NCIT MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasNarrowSynonym malignant mesothelial neoplasm malignant mesothelial neoplasm Malignant Mesothelial Neoplasm NCIT:C4456 Malignant Mesothelioma NCIT:C4456 updated malignant mesothelial neoplasm NCIT:C4456 NCIT -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of pleura neoplasm of pleura Neoplasm of Pleura NCIT:C3332 Pleural Neoplasm DOID:5158 updated neoplasm of pleura NCIT:C3332 NCIT -MONDO:0006294 pleural cancer oio:hasExactSynonym oio:hasBroadSynonym pleural tumor pleural tumor Pleural Tumor NCIT:C3332 Pleural Neoplasm NCIT:C3332, DOID:5158 updated pleural tumor NCIT:C3332 NCIT MONDO:0006297 maxillary sinus adenoid cystic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym adenoid cystic carcinoma of maxillary sinus adenoid cystic carcinoma of maxillary sinus Adenoid Cystic Carcinoma of Maxillary Sinus NCIT:C6239 Maxillary Sinus Adenoid Cystic Carcinoma DOID:7198, NCIT:C6239 updated adenoid cystic carcinoma of maxillary sinus NCIT:C6239 NCIT MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of mediastinum malignant germ cell neoplasm of mediastinum Malignant Germ Cell Neoplasm of Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 updated malignant germ cell neoplasm of mediastinum NCIT:C6446 NCIT MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell neoplasm of the mediastinum malignant germ cell neoplasm of the mediastinum Malignant Germ Cell Neoplasm of the Mediastinum NCIT:C6446 Malignant Mediastinal Germ Cell Tumor NCIT:C6446 updated malignant germ cell neoplasm of the mediastinum NCIT:C6446 NCIT @@ -60447,13 +58812,8 @@ MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oi MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym myeloproliferative/myelodysplastic syndromes myeloproliferative/myelodysplastic syndromes Myeloproliferative/Myelodysplastic Syndromes NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm DOID:4972, NCIT:C27262 updated myeloproliferative/myelodysplastic syndromes NCIT:C27262 NCIT MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS-MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 updated MDS-MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0006311 myelodysplastic/myeloproliferative neoplasm oio:hasExactSynonym oio:hasBroadSynonym MDS/MPD NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C27262 updated MDS/MPD NCIT:C27262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006312 myofibroma oio:hasExactSynonym oio:hasRelatedSynonym infantile hemangiopericytoma infantile hemangiopericytoma Infantile Hemangiopericytoma NCIT:C3742 Myofibromatosis NCIT:C7052 updated infantile hemangiopericytoma NCIT:C3742 NCIT MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Esthesioneuroepithelioma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 updated Esthesioneuroepithelioma NCIT:C3789 NCIT MONDO:0006329 olfactory neuroblastoma oio:hasExactSynonym oio:hasRelatedSynonym esthesioneuroblastoma esthesioneuroblastoma Esthesioneuroblastoma NCIT:C3789 Olfactory Neuroblastoma NCIT:C3789 updated esthesioneuroblastoma NCIT:C3789 NCIT -MONDO:0006343 ovarian transitional cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym ovarian transitional cell neoplasm ovarian transitional cell neoplasm Ovarian Transitional Cell Neoplasm NCIT:C3872 Ovarian Brenner Tumor DOID:4000 updated ovarian transitional cell neoplasm NCIT:C3872 NCIT -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C27241 Adult Yolk Sac Tumor ONCOTREE:OYST updated yolk sac tumor NCIT:C27241 NCIT -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST updated yolk sac tumor NCIT:C3011 NCIT -MONDO:0006344 ovarian yolk sac tumor oio:hasExactSynonym oio:hasRelatedSynonym yolk sac tumor yolk sac tumor Yolk sac tumor NCIT:C3011 Yolk Sac Tumor ONCOTREE:OYST updated yolk sac tumor NCIT:C3011 NCIT MONDO:0006345 palmar fibromatosis oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren's contracture Dupuytren's contracture Dupuytren's Contracture NCIT:C3469 Palmar Fibromatosis NCIT:C3469 updated Dupuytren's contracture NCIT:C3469 NCIT MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of accessory sinus Schneiderian papilloma of accessory sinus Schneiderian Papilloma of Accessory Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 updated Schneiderian papilloma of accessory sinus NCIT:C6835 NCIT MONDO:0006353 paranasal sinus Schneiderian papilloma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian papilloma of paranasal sinus Schneiderian papilloma of paranasal sinus Schneiderian Papilloma of Paranasal Sinus NCIT:C6835 Paranasal Sinus Papilloma NCIT:C6835 updated Schneiderian papilloma of paranasal sinus NCIT:C6835 NCIT @@ -60478,84 +58838,40 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym ang MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma of the placenta angioma of the placenta Angioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 updated angioma of the placenta NCIT:C4868 NCIT MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hemangioma of the placenta hemangioma of the placenta Hemangioma of the Placenta NCIT:C4868 Placental Hemangioma NCIT:C4868 updated hemangioma of the placenta NCIT:C4868 NCIT MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym placental angioma placental angioma Placental Angioma NCIT:C4868 Placental Hemangioma NCIT:C4868 updated placental angioma NCIT:C4868 NCIT -MONDO:0006427 spindle cell melanoma oio:hasExactSynonym oio:hasRelatedSynonym desmoplastic melanoma desmoplastic melanoma Desmoplastic Melanoma NCIT:C37257 Desmoplastic Melanoma DOID:3162 updated desmoplastic melanoma NCIT:C37257 NCIT -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell neoplasm transitional cell neoplasm Transitional Cell Neoplasm NCIT:C6783 Transitional Cell Neoplasm DOID:2671 updated transitional cell neoplasm NCIT:C6783 NCIT -MONDO:0006474 transitional cell carcinoma oio:hasExactSynonym oio:hasBroadSynonym transitional cell tumor transitional cell tumor Transitional Cell Tumor NCIT:C6783 Transitional Cell Neoplasm NCIT:C6783, DOID:2671 updated transitional cell tumor NCIT:C6783 NCIT MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma NCIT:C8993 updated ureter cancer NCIT:C8993 NCIT -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasRelatedSynonym choroidal melanoma choroidal melanoma Choroidal Melanoma NCIT:C4561 Choroid Melanoma Orphanet:39044 updated choroidal melanoma NCIT:C4561 NCIT -MONDO:0006486 uveal melanoma oio:hasExactSynonym oio:hasNarrowSynonym iris melanoma iris melanoma Iris Melanoma NCIT:C9088 Iris Melanoma Orphanet:39044 updated iris melanoma NCIT:C9088 NCIT -MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym malignant vaginal mixed epithelial and mesenchymal tumor malignant vaginal mixed epithelial and mesenchymal tumor Malignant Vaginal Mixed Epithelial and Mesenchymal Tumor NCIT:C40276 Malignant Vaginal Mixed Epithelial and Mesenchymal Neoplasm DOID:136 updated malignant vaginal mixed epithelial and mesenchymal tumor NCIT:C40276 NCIT MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor Vaginal Malignant Mixed Mesodermal (Mullerian) Tumor NCIT:C40278 Vaginal Carcinosarcoma NCIT:C40278 updated vaginal malignant mixed mesodermal (Mullerian) tumor NCIT:C40278 NCIT -MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary cystadenoma lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT +MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor NCIT:C2854 updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma angioma Angioma NCIT:C3085 Hemangioma NCIT:C3085 updated angioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym benign angioma benign angioma Benign Angioma NCIT:C3085 Hemangioma NCIT:C3085 updated benign angioma NCIT:C3085 NCIT -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym acute lung injury acute lung injury Acute Lung Injury NCIT:C155766 Acute Lung Injury GARD:0005698 updated acute lung injury NCIT:C155766 NCIT -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALI NCIT:C155766 Acute Lung Injury http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005698 updated ALI NCIT:C155766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis NCIT:C82892 Hemochromatosis DOID:2352 updated hemochromatosis NCIT:C82892 NCIT MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm NCIT:C4005 updated malignant neoplasm NCIT:C4005 NCIT -MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C9305 Malignant Neoplasm NCIT:C4005 updated malignant neoplasm NCIT:C9305 NCIT -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of rectum carcinoma of rectum Carcinoma of Rectum NCIT:C9382 Rectal Carcinoma DOID:1993 updated carcinoma of rectum NCIT:C9382 NCIT -MONDO:0006519 rectal cancer oio:hasExactSynonym oio:hasBroadSynonym carcinoma of the rectum carcinoma of the rectum Carcinoma of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382, DOID:1993 updated carcinoma of the rectum NCIT:C9382 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym adrenal cortex cancer adrenal cortex cancer Adrenal Cortex Cancer NCIT:C9325 Adrenal Cortical Carcinoma NCIT:C9325 updated adrenal cortex cancer NCIT:C9325 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant adrenocortical tumor malignant adrenocortical tumor Malignant Adrenocortical Tumor NCIT:C9327 Malignant Adrenal Cortical Neoplasm NCIT:C9327, DOID:660 updated malignant adrenocortical tumor NCIT:C9327 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of adrenal cortex malignant neoplasm of adrenal cortex Malignant Neoplasm of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 updated malignant neoplasm of adrenal cortex NCIT:C9327 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of adrenal cortex malignant tumor of adrenal cortex Malignant Tumor of Adrenal Cortex NCIT:C9327 Malignant Adrenal Cortical Neoplasm DOID:660 updated malignant tumor of adrenal cortex NCIT:C9327 NCIT -MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis Orphanet:280886 updated iridocyclitis NCIT:C34736 NCIT -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroid neoplasm choroid neoplasm Choroid Neoplasm NCIT:C2949 Choroid Neoplasm DOID:12759 updated choroid neoplasm NCIT:C2949 NCIT -MONDO:0006700 choroid cancer oio:hasExactSynonym oio:hasBroadSynonym choroidal tumor choroidal tumor Choroidal Tumor NCIT:C2949 Choroid Neoplasm NCIT:C2949, DOID:12759 updated choroidal tumor NCIT:C2949 NCIT MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy oio:hasExactSynonym oio:hasRelatedSynonym chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyneuritis Chronic Inflammatory Demyelinating Polyneuritis NCIT:C84636 Chronic Inflammatory Demyelinating Polyneuropathy DOID:2536 updated chronic inflammatory demyelinating polyneuritis NCIT:C84636 NCIT -MONDO:0006734 benign duodenal neoplasm oio:hasExactSynonym oio:hasBroadSynonym neoplasm of the duodenum neoplasm of the duodenum Neoplasm of the Duodenum NCIT:C2995 Duodenal Neoplasm NCIT:C2995, DOID:1737 updated neoplasm of the duodenum NCIT:C2995 NCIT -MONDO:0006738 eccrine acrospiroma oio:hasExactSynonym oio:hasRelatedSynonym hidradenoma hidradenoma Hidradenoma NCIT:C7563 Hidradenoma MESH:D018250, GARD:0005726 updated hidradenoma NCIT:C7563 NCIT -MONDO:0006787 hidrocystoma oio:hasExactSynonym oio:hasRelatedSynonym cystadenoma cystadenoma Cystadenoma NCIT:C2972 Cystadenoma https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/ updated cystadenoma NCIT:C2972 NCIT -MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C34903 Pars Planitis NCIT:C35110 updated pars planitis NCIT:C34903 NCIT MONDO:0006806 intermediate uveitis oio:hasExactSynonym oio:hasNarrowSynonym pars planitis pars planitis Pars Planitis NCIT:C35110 Intermediate Uveitis NCIT:C35110 updated pars planitis NCIT:C35110 NCIT MONDO:0006816 arthropathy oio:hasExactSynonym oio:hasRelatedSynonym joint disorder joint disorder Joint Disorder NCIT:C35760 Arthropathy updated joint disorder NCIT:C35760 NCIT -MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C113347 Hypogonadotropic Hypogonadism NCIT:C34752 updated hypogonadotropic hypogonadism NCIT:C113347 NCIT MONDO:0006823 Klinefelter syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropic hypogonadism hypogonadotropic hypogonadism Hypogonadotropic Hypogonadism NCIT:C34752 Klinefelter Syndrome NCIT:C34752 updated hypogonadotropic hypogonadism NCIT:C34752 NCIT -MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Vertebral artery syndrome Vertebral artery syndrome Vertebral Artery Syndrome NCIT:C35123 Vertebral Artery Syndrome GARD:0009263 updated Vertebral artery syndrome NCIT:C35123 NCIT MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome Lateral medullary syndrome Lateral Medullary Syndrome NCIT:C84807 Lateral Medullary Syndrome GARD:0009263 updated Lateral medullary syndrome NCIT:C84807 NCIT MONDO:0006840 lymphangiectasis oio:hasExactSynonym oio:hasRelatedSynonym lymphangiectasia lymphangiectasia Lymphangiectasia NCIT:C97087 Lymphangiectasia GARD:0006933 updated lymphangiectasia NCIT:C97087 NCIT -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic Sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 updated granulocytic sarcoma NCIT:C35815 NCIT -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma NCIT:C35815 Granulocytic Sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 updated granulocytic sarcoma NCIT:C35815 NCIT -MONDO:0006921 Actinomycetales infectious disease oio:hasExactSynonym oio:hasRelatedSynonym actinomycosis actinomycosis Actinomycosis NCIT:C34350 Actinomycosis updated actinomycosis NCIT:C34350 NCIT MONDO:0006926 haemophilus infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Hemophilus infection Hemophilus infection Hemophilus Infection NCIT:C34654 Hemophilus Infection MESH:D006192 updated Hemophilus infection NCIT:C34654 NCIT -MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym oio:hasNarrowSynonym malignant sebaceous tumor malignant sebaceous tumor Malignant Sebaceous Tumor NCIT:C8409 Malignant Sebaceous Neoplasm DOID:4840, NCIT:C8409 updated malignant sebaceous tumor NCIT:C8409 NCIT -MONDO:0006976 somatostatinoma oio:hasExactSynonym oio:hasRelatedSynonym malignant islet cell tumor malignant islet cell tumor Malignant Islet Cell Tumor NCIT:C3770 Pancreatic Neuroendocrine Carcinoma GARD:0004900 updated malignant islet cell tumor NCIT:C3770 NCIT -MONDO:0006998 tonsil cancer oio:hasExactSynonym oio:hasBroadSynonym cancer of tonsil cancer of tonsil Cancer of Tonsil NCIT:C4825 Tonsillar Carcinoma MONDO:patterns/cancer updated cancer of tonsil NCIT:C4825 NCIT MONDO:0007000 Treponema infectious disease oio:hasExactSynonym oio:hasRelatedSynonym Treponemal infection Treponemal infection Treponemal Infection NCIT:C85197 Treponemal Infection MESH:D014211 updated Treponemal infection NCIT:C85197 NCIT MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome Eagle-Barrett Syndrome NCIT:C85033 Prune Belly Syndrome OMIM:100100 updated eagle-Barrett syndrome NCIT:C85033 NCIT MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym cranial nerve VI palsy cranial nerve VI palsy Cranial Nerve VI Palsy NCIT:C27592 Cranial Nerve VI Palsy GARD:0009482 updated cranial nerve VI palsy NCIT:C27592 NCIT -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasBroadSynonym VIth nerve disorder VIth nerve disorder VIth Nerve Disorder NCIT:C27593 Abducens Nerve Disorder NCIT:C27593, DOID:10865 updated VIth nerve disorder NCIT:C27593 NCIT -MONDO:0007033 abducens nerve palsy oio:hasExactSynonym oio:hasRelatedSynonym abducens nerve disease abducens nerve disease Abducens Nerve Disease NCIT:C27593 Abducens Nerve Disorder DOID:10865 updated abducens nerve disease NCIT:C27593 NCIT MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic Neurofibromatosis NCIT:C3274 Neurofibromatosis Type 2 NCIT:C3274 updated acoustic neurofibromatosis NCIT:C3274 NCIT MONDO:0007042 Saethre-Chotzen syndrome oio:hasExactSynonym oio:hasRelatedSynonym acrocephalosyndactyly type III acrocephalosyndactyly type III Acrocephalosyndactyly Type III NCIT:C75034 Type III Acrocephalosyndactyly DOID:14768 updated acrocephalosyndactyly type III NCIT:C75034 NCIT MONDO:0007043 Pfeiffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Noack syndrome Noack syndrome Noack Syndrome NCIT:C99100 Type V Acrocephalosyndactyly OMIM:101600, Wikipedia:Acrocephalosyndactylia updated Noack syndrome NCIT:C99100 NCIT MONDO:0007044 Acrodysostosis 1 with or without hormone resistance oio:hasExactSynonym oio:hasRelatedSynonym ACRDYS1 NCIT:C136464 Acrodysostosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:101800, MONDO:Lexical updated ACRDYS1 NCIT:C136464 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical updated FTDALS1 NCIT:C168756 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasBroadSynonym anal canal cancer anal canal cancer Anal Canal Cancer NCIT:C7489 Anal Canal Carcinoma NCIT:C7489 updated anal canal cancer NCIT:C7489 NCIT -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 updated cloacogenic carcinoma NCIT:C8255 NCIT -MONDO:0007108 anal canal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym cloacogenic carcinoma cloacogenic carcinoma Cloacogenic Carcinoma NCIT:C8255 Anal Canal Cloacogenic Carcinoma OMIM:105580 updated cloacogenic carcinoma NCIT:C8255 NCIT MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 NCIT:C176911 Diamond-Blackfan Anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical updated DBA1 NCIT:C176911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar Syndrome NCIT:C85056 Scimitar Syndrome DOID:4297 updated scimitar syndrome NCIT:C85056 NCIT MONDO:0007160 Stickler syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym STL1 NCIT:C168733 Stickler Syndrome Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:108300 updated STL1 NCIT:C168733 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007191 Behcet disease oio:hasExactSynonym oio:hasRelatedSynonym Behcet's disease Behcet's disease Behcet's Disease NCIT:C34416 Behcet Syndrome DOID:13241 updated Behcet's disease NCIT:C34416 NCIT MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma NCIT:C122660 Hardcastle's Syndrome MONDO:Lexical, OMIM:112250 updated diaphyseal medullary stenosis with malignant fibrous histiocytoma NCIT:C122660 NCIT MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease Lenegre-Lev Disease NCIT:C126651 Progressive Familial Heart Block, Type Ia OMIM:113900 updated Lenegre-Lev disease NCIT:C126651 NCIT -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CMPD Cmpd CMPD NCIT:C4345 Myeloproliferative Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114290 updated CMPD NCIT:C4345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007254 breast cancer oio:hasExactSynonym oio:hasBroadSynonym breast tumor breast tumor Breast Tumor NCIT:C2910 Breast Neoplasm NCIT:C2910, DOID:1612 updated breast tumor NCIT:C2910 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma NCIT:C3728 Hepatoblastoma OMIM:114550 updated hepatoblastoma NCIT:C3728 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver and intrahepatic bile duct carcinoma liver and intrahepatic bile duct carcinoma Liver and Intrahepatic Bile Duct Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C7927, DOID:686 updated liver and intrahepatic bile duct carcinoma NCIT:C7927 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma OMIM:114550 updated liver cancer NCIT:C7927 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult hepatoma adult hepatoma Adult Hepatoma NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956, DOID:684 updated adult hepatoma NCIT:C7956 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym adult primary hepatocellular carcinoma adult primary hepatocellular carcinoma Adult Primary Hepatocellular Carcinoma NCIT:C7956 Adult Hepatocellular Carcinoma DOID:684 updated adult primary hepatocellular carcinoma NCIT:C7956 NCIT -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte Adhesion Deficiency NCIT:C27874 Leukocyte Adhesion Deficiency OMIM:116920, OMIM:genemap2 updated leukocyte adhesion deficiency NCIT:C27874 NCIT MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym Lfa1 immunodeficiency Lfa1 immunodeficiency LFA1 Immunodeficiency NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 OMIM:116920 updated Lfa1 immunodeficiency NCIT:C4689 NCIT MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD1 Lad1 LAD1 NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116920 updated LAD1 NCIT:C4689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of Aorta NCIT:C84567 Aortic Coarctation OMIM:120000 updated coarctation of aorta NCIT:C84567 NCIT MONDO:0007352 renal coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym PAPILLORENAL syndrome PAPILLORENAL syndrome Papillorenal Syndrome NCIT:C123230 Renal Coloboma Syndrome MONDO:Lexical, OMIM:120330 updated PAPILLORENAL syndrome NCIT:C123230 NCIT MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LYNCH syndrome I LYNCH syndrome I Lynch Syndrome I NCIT:C6725 Lynch 1 Syndrome OMIM:120435 updated LYNCH syndrome I NCIT:C6725 NCIT -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 Lynch Syndrome 2 NCIT:C6726 Lynch 2 Syndrome OMIM:120435 updated Lynch syndrome 2 NCIT:C6726 NCIT MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 9 arthrogryposis, distal, type 9 Arthrogryposis, Distal, Type 9 NCIT:C129865 Congenital Contractural Arachnodactyly OMIM:121050, MONDO:Lexical updated arthrogryposis, distal, type 9 NCIT:C129865 NCIT MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic Diabetes Insipidus NCIT:C84933 Neurogenic Diabetes Insipidus NCIT:C84933 updated neurogenic diabetes insipidus NCIT:C84933 NCIT MONDO:0007452 maturity-onset diabetes of the young type 1 oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young, type 1 maturity-onset diabetes of the young, type 1 Maturity-Onset Diabetes of the Young, Type 1 NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes OMIM:125850, MONDO:Lexical, GARD:0003418 updated maturity-onset diabetes of the young, type 1 NCIT:C129744 NCIT @@ -60563,19 +58879,15 @@ MONDO:0007453 maturity-onset diabetes of the young type 2 oio:hasExactSynonym oi MONDO:0007481 Leri-Weill dyschondrosteosis oio:hasExactSynonym oio:hasRelatedSynonym dyschondrosteosis dyschondrosteosis Dyschondrosteosis NCIT:C126560 Leri-Weill Dyschondrosteosis GARD:0003224, OMIM:127300 updated dyschondrosteosis NCIT:C126560 NCIT MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym dyschromatosis symmetrica hereditaria 1 dyschromatosis symmetrica hereditaria 1 Dyschromatosis Symmetrica Hereditaria 1 NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 updated dyschromatosis symmetrica hereditaria 1 NCIT:C118435 NCIT MONDO:0007483 dyschromatosis symmetrica hereditaria oio:hasExactSynonym oio:hasRelatedSynonym symmetric dyschromatosis of the extremities symmetric dyschromatosis of the extremities Symmetric Dyschromatosis of the Extremities NCIT:C118435 Dyschromatosis Symmetrica Hereditaria OMIM:127400 updated symmetric dyschromatosis of the extremities NCIT:C118435 NCIT -MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic Torsion Dystonia NCIT:C34564 Idiopathic Torsion Dystonia Orphanet:256 updated idiopathic torsion dystonia NCIT:C34564 NCIT MONDO:0007496 dystonia 12 oio:hasExactSynonym oio:hasRelatedSynonym rapid-onset dystonia-parkinsonism rapid-onset dystonia-parkinsonism Rapid-Onset Dystonia-Parkinsonism NCIT:C157577 Dystonia 12 Orphanet:71517 updated rapid-onset dystonia-parkinsonism NCIT:C157577 NCIT MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C3225 Multiple Endocrine Neoplasia Type 1 NCIT:C3225 updated multiple endocrine adenomatosis NCIT:C3225 NCIT -MONDO:0007540 multiple endocrine neoplasia type 1 oio:hasExactSynonym oio:hasBroadSynonym multiple endocrine adenomatosis multiple endocrine adenomatosis Multiple Endocrine Adenomatosis NCIT:C6432 Multiple Endocrine Neoplasia NCIT:C3225 updated multiple endocrine adenomatosis NCIT:C6432 NCIT MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign hair follicle neoplasm benign hair follicle neoplasm Benign Hair Follicle Neoplasm NCIT:C7368 Pilomatricoma NCIT:C7368 updated benign hair follicle neoplasm NCIT:C7368 NCIT MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatricoma benign pilomatricoma Benign Pilomatricoma NCIT:C7368 Pilomatricoma DOID:5374 updated benign pilomatricoma NCIT:C7368 NCIT MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasNarrowSynonym benign pilomatrixoma benign pilomatrixoma Benign Pilomatrixoma NCIT:C7368 Pilomatricoma NCIT:C7368 updated benign pilomatrixoma NCIT:C7368 NCIT MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying Epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 updated calcifying epithelioma of Malherbe NCIT:C7368 NCIT MONDO:0007564 pilomatrixoma oio:hasExactSynonym oio:hasRelatedSynonym calcifying epithelioma of Malherbe calcifying epithelioma of Malherbe Calcifying epithelioma of Malherbe NCIT:C7368 Pilomatricoma GARD:0009452 updated calcifying epithelioma of Malherbe NCIT:C7368 NCIT -MONDO:0007576 esophageal cancer oio:hasExactSynonym oio:hasNarrowSynonym malignant tumor of abdominal esophagus malignant tumor of abdominal esophagus Malignant Tumor of Abdominal Esophagus NCIT:C4764 Malignant Neoplasm of the Abdominal Esophagus NCIT:C4764, DOID:5041 updated malignant tumor of abdominal esophagus NCIT:C4764 NCIT MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 NCIT:C18252 EXT2 Gene http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 updated EXT2 NCIT:C18252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym EVR1 NCIT:C175048 Exudative Vitreoretinopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:133780 updated EVR1 NCIT:C175048 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy of prematurity retinopathy of prematurity Retinopathy of Prematurity NCIT:C34982 Retinopathy of Prematurity OMIM:133780 updated retinopathy of prematurity NCIT:C34982 NCIT MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva Orphanet:337, DOID:13374 updated myositis ossificans progressiva NCIT:C3040 NCIT MONDO:0007621 Floating-Harbor syndrome oio:hasExactSynonym oio:hasRelatedSynonym FLHS NCIT:C175241 Floating-Harbor Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136140 updated FLHS NCIT:C175241 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p12.1 deletion syndrome, 520-KB chromosome 16p12.1 deletion syndrome, 520-KB Chromosome 16p12.1 Deletion Syndrome, 520-KB NCIT:C129875 Chromosome 16p12.1 Deletion Syndrome OMIM:136570 updated chromosome 16p12.1 deletion syndrome, 520-KB NCIT:C129875 NCIT @@ -60583,33 +58895,19 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia 1 frontonasal dysplasia 1 Frontonasal Dysplasia 1 NCIT:C129028 Frontonasal Dysplasia OMIM:136760, MONDO:Lexical updated frontonasal dysplasia 1 NCIT:C129028 NCIT MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 NCIT:C129028 Frontonasal Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical updated FND1 NCIT:C129028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007644 IgAD1 oio:hasExactSynonym oio:hasRelatedSynonym IMMUNOGLOBULIN A deficiency 1 IMMUNOGLOBULIN A deficiency 1 Immunoglobulin A Deficiency 1 NCIT:C123434 Immunoglobulin A Deficiency 1 MONDO:Lexical, OMIM:137100 updated IMMUNOGLOBULIN A deficiency 1 NCIT:C123434 NCIT -MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym GTS NCIT:C118370 Growing Teratoma Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137580, Orphanet:856, MONDO:Lexical updated GTS NCIT:C118370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome NCIT:C35078 Tourette Syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 updated Gilles de la Tourette syndrome NCIT:C35078 NCIT -MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis NCIT:C27496 Glomangiomatosis Orphanet:83454 updated glomangiomatosis NCIT:C27496 NCIT MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre Syndrome NCIT:C123815 Myhre Syndrome OMIM:139210 updated MYHRE syndrome NCIT:C123815 NCIT MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188 updated autoimmune thyroiditis NCIT:C27191 NCIT MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic Thyroiditis NCIT:C27191 Hashimoto Thyroiditis DOID:7188, NCIT:C38766 updated lymphocytic thyroiditis NCIT:C27191 NCIT MONDO:0007743 attention deficit-hyperactivity disorder oio:hasExactSynonym oio:hasRelatedSynonym ADHD NCIT:C97160 Attention Deficit Hyperactivity Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical updated ADHD NCIT:C97160 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym IBS NCIT:C82343 Irritable Bowel Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:146800 updated IBS NCIT:C82343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE Recurrent Infection Syndrome NCIT:C126342 STAT3 Deficiency NCIT:C126342 updated hyper-IgE recurrent infection syndrome NCIT:C126342 NCIT -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C131425 Congenital Hyperinsulinism NCIT:C4375 updated nesidioblastosis NCIT:C131425 NCIT MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis nesidioblastosis Nesidioblastosis NCIT:C4375 Nesidioblastosis NCIT:C4375 updated nesidioblastosis NCIT:C4375 NCIT MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia laryngomalacia Laryngomalacia NCIT:C98971 Laryngomalacia OMIM:150280 updated laryngomalacia NCIT:C98971 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym monocytic leukemia monocytic leukemia Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia NCIT:C4861 updated monocytic leukemia NCIT:C4861 NCIT MONDO:0007899 lichen sclerosus et atrophicus oio:hasExactSynonym oio:hasRelatedSynonym lichen SCLEROSUS ET ATROPHICUS lichen SCLEROSUS ET ATROPHICUS Lichen Sclerosus et Atrophicus NCIT:C26817 Lichen Sclerosus et Atrophicus OMIM:151590 updated lichen SCLEROSUS ET ATROPHICUS NCIT:C26817 NCIT -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Launois-Bensaude syndrome Launois-Bensaude syndrome Launois-Bensaude Syndrome NCIT:C3193 Lipomatosis GARD:0006957 updated Launois-Bensaude syndrome NCIT:C3193 NCIT -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Madelung disease Madelung Disease NCIT:C3193 Lipomatosis Orphanet:2398 updated Madelung disease NCIT:C3193 NCIT -MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasRelatedSynonym Madelung's disease Madelung's disease Madelung's Disease NCIT:C3193 Lipomatosis GARD:0006957 updated Madelung's disease NCIT:C3193 NCIT -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Ruvalcaba-Myhre-Smith Syndrome NCIT:C3076 Cowden Syndrome OMIM:153480 updated Ruvalcaba-Myhre-Smith syndrome NCIT:C3076 NCIT MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 4 46,XY SEX reversal 4 46,XY Sex Reversal 4 NCIT:C132270 46,XY Sex Reversal 4 OMIM:154230 updated 46,XY SEX reversal 4 NCIT:C132270 NCIT MONDO:0007938 46,XY sex reversal 4 oio:hasExactSynonym oio:hasRelatedSynonym SRXY4 NCIT:C132270 46,XY Sex Reversal 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154230 updated SRXY4 NCIT:C132270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria Pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 updated urticaria pigmentosa NCIT:C3433 NCIT -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis OMIM:154800 updated urticaria pigmentosa NCIT:C3433 NCIT MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym MAST cell disease MAST cell disease Mast Cell Disease NCIT:C84269 Mastocytosis OMIM:154800 updated MAST cell disease NCIT:C84269 NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified NCIT:C5398, DOID:0050902 updated CNS PNET NCIT:C5398 NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CPNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050902 updated CPNET NCIT:C5398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 updated medulloblastoma with extensive nodularity NCIT:C5407 NCIT -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity OMIM:155255 updated medulloblastoma with extensive nodularity NCIT:C5407 NCIT MONDO:0007962 megalodactyly oio:hasExactSynonym oio:hasRelatedSynonym macrodactyly macrodactyly Macrodactyly NCIT:C48900 Macrodactyly OMIM:155500 updated macrodactyly NCIT:C48900 NCIT MONDO:0007974 intellectual disability, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 1 mental retardation, autosomal dominant 1 Mental Retardation, Autosomal Dominant 1 NCIT:C141424 Mental Retardation, Autosomal Dominant 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:156200 updated mental retardation, autosomal dominant 1 NCIT:C141424 NCIT MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF NCIT:C188216 Cardiospondylocarpofacial Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 updated CSCF NCIT:C188216 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -60617,82 +58915,59 @@ MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 Bethlem Myopathy 1 NCIT:C126688 Bethlem Myopathy 1 OMIM:158810, MONDO:Lexical updated Bethlem myopathy 1 NCIT:C126688 NCIT MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym BTHLM1 NCIT:C126688 Bethlem Myopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158810 updated BTHLM1 NCIT:C126688 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 updated FSHD1 NCIT:C172704 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral Muscular Dystrophy NCIT:C84704 Facioscapulohumeral Muscular Dystrophy MESH:C536391, OMIM:158900 updated facioscapulohumeral muscular dystrophy NCIT:C84704 NCIT MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym FSHD2 NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:158901 updated FSHD2 NCIT:C172705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATXPC NCIT:C176909 Ataxia-Pancytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:159550 updated ATXPC NCIT:C176909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JPM NCIT:C114358 Juvenile Polymyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 updated JPM NCIT:C114358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym JDM NCIT:C27576 Childhood Dermatomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006805 updated JDM NCIT:C27576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym myositis myositis Myositis NCIT:C27578 Myositis OMIM:160750 updated myositis NCIT:C27578 NCIT MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 dystrophia myotonica 1 Dystrophia Myotonica 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900 updated dystrophia myotonica 1 NCIT:C84679 NCIT MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 myotonic dystrophy 1 Myotonic Dystrophy 1 NCIT:C84679 Dystrophia Myotonica 1 OMIM:160900, MONDO:Lexical updated myotonic dystrophy 1 NCIT:C84679 NCIT MONDO:0008062 narcolepsy 1 oio:hasExactSynonym oio:hasRelatedSynonym cataplexy cataplexy Cataplexy NCIT:C84618 Cataplexy OMIM:161400 updated cataplexy NCIT:C84618 NCIT MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 3 nemaline myopathy 3 Nemaline Myopathy 3 NCIT:C129870 Nemaline Myopathy 3 NCIT:C129870, OMIM:161800, MONDO:Lexical updated nemaline myopathy 3 NCIT:C129870 NCIT MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NEM3 NCIT:C129870 Nemaline Myopathy 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:161800, DOID:0110927, MONDO:Lexical updated NEM3 NCIT:C129870 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Schwannomatosis updated neurinoma NCIT:C3269 NCIT MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym oio:hasRelatedSynonym CLN4B NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:162350, MONDO:Lexical updated CLN4B NCIT:C128116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic Neutropenia NCIT:C3820 Cyclic Neutropenia OMIM:162800 updated cyclic neutropenia NCIT:C3820 NCIT MONDO:0008095 nevus anemicus oio:hasExactSynonym oio:hasRelatedSynonym NEVUS anemicus NEVUS anemicus Nevus Anemicus NCIT:C3943 Nevus Anemicus OMIM:163050 updated NEVUS anemicus NCIT:C3943 NCIT -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome Noonan Syndrome NCIT:C34854 Noonan Syndrome OMIM:163950 updated Noonan syndrome NCIT:C34854 NCIT MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C88411 Obsessive Compulsive Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 updated OCD NCIT:C88411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym oio:hasRelatedSynonym OCD NCIT:C92638 Obsessive-Compulsive Personality Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:164230 updated OCD NCIT:C92638 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008145 Ollier disease oio:hasExactSynonym oio:hasRelatedSynonym enchondromatosis enchondromatosis Enchondromatosis NCIT:C3008 Enchondromatosis GARD:0007251 updated enchondromatosis NCIT:C3008 NCIT -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym ovarian neoplasm ovarian neoplasm Ovarian Neoplasm NCIT:C4984 Ovarian Neoplasm DOID:2394, MTH:NOCODE updated ovarian neoplasm NCIT:C4984 NCIT -MONDO:0008170 ovarian cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the ovary tumor of the ovary Tumor of the Ovary NCIT:C4984 Ovarian Neoplasm DOID:2394, NCIT:C4984 updated tumor of the ovary NCIT:C4984 NCIT MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget disease, extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 updated Paget disease, EXTRAMAMMARY NCIT:C3302 NCIT MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym Paget disease, EXTRAMAMMARY Paget disease, EXTRAMAMMARY Paget Disease, Extramammary NCIT:C3302 Extramammary Paget Disease OMIM:167300 updated Paget disease, EXTRAMAMMARY NCIT:C3302 NCIT MONDO:0008177 extramammary Paget disease oio:hasExactSynonym oio:hasRelatedSynonym cutaneous Paget's disease cutaneous Paget's disease Cutaneous Paget's Disease NCIT:C3302 Extramammary Paget Disease NCIT:C3302 updated cutaneous Paget's disease NCIT:C3302 NCIT MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 OMIM:167320, MONDO:Lexical updated inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 NCIT:C122663 NCIT MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 oio:hasExactSynonym oio:hasRelatedSynonym IBMPFD1 NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167320 updated IBMPFD1 NCIT:C122663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HP Hp HP NCIT:C4083 Hyperplastic Polyp http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 updated HP NCIT:C4083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia Congenita of von Eulenburg NCIT:C122790 Paramyotonia Congenita OMIM:168300 updated paramyotonia congenita of VON Eulenburg NCIT:C122790 NCIT MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym PMC NCIT:C122790 Paramyotonia Congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168300 updated PMC NCIT:C122790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign Familial Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 updated benign familial pemphigus NCIT:C82865 NCIT MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym familial benign pemphigus familial benign pemphigus Familial Benign Pemphigus NCIT:C82865 Familial Benign Pemphigus GARD:0006559 updated familial benign pemphigus NCIT:C82865 NCIT MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS NCIT:C84559 Long QT Syndrome 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 updated ATS NCIT:C84559 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008243 Pick disease oio:hasExactSynonym oio:hasRelatedSynonym Pick's disease Pick's disease Pick's Disease NCIT:C85008 Pick's Disease DOID:11870 updated Pick's disease NCIT:C85008 NCIT -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous Dysplasia of Bone NCIT:C34609 Fibrous Dysplasia NCIT:C34609 updated fibrous dysplasia of bone NCIT:C34609 NCIT MONDO:0008277 stomach polyp oio:hasExactSynonym oio:hasRelatedSynonym gastric polyposis gastric polyposis Gastric Polyposis NCIT:C3954 Gastric Polyp NCIT:C3954 updated gastric polyposis NCIT:C3954 NCIT MONDO:0008287 Greig cephalopolysyndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Greig syndrome Greig syndrome Greig Syndrome NCIT:C35255 Greig Syndrome GARD:0006550 updated Greig syndrome NCIT:C35255 NCIT -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP NCIT:C35806 Acute Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical updated AIP NCIT:C35806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, acute intermittent porphyria, acute intermittent Porphyria, Acute Intermittent NCIT:C84536 Acute Intermittent Porphyria OMIM:176000, MONDO:Lexical updated porphyria, acute intermittent NCIT:C84536 NCIT MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria NCIT:C34951 Progeria OMIM:176670, Orphanet:740 updated progeria NCIT:C34951 NCIT -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasNarrowSynonym hereditary prostate cancer hereditary prostate cancer Hereditary Prostate Cancer NCIT:C103817 Hereditary Prostate Carcinoma DOID:10283 updated hereditary prostate cancer NCIT:C103817 NCIT -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym prostate neoplasm prostate neoplasm Prostate Neoplasm NCIT:C3343 Prostate Neoplasm DOID:10283 updated prostate neoplasm NCIT:C3343 NCIT -MONDO:0008315 prostate cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of the prostate tumor of the prostate Tumor of the Prostate NCIT:C3343 Prostate Neoplasm DOID:10283, NCIT:C3343 updated tumor of the prostate NCIT:C3343 NCIT MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym erythropoietic protoporphyria erythropoietic protoporphyria Erythropoietic Protoporphyria NCIT:C84698 Erythropoietic Protoporphyria NCIT:C84698 updated erythropoietic protoporphyria NCIT:C84698 NCIT MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, Erythropoietic NCIT:C84698 Erythropoietic Protoporphyria OMIM:177000, MONDO:Lexical updated protoporphyria, erythropoietic NCIT:C84698 NCIT MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym EPP NCIT:C84698 Erythropoietic Protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004527, OMIM:177000, MONDO:Lexical updated EPP NCIT:C84698 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRelatedSynonym pseudo-VON WILLEBRAND disease pseudo-VON WILLEBRAND disease Pseudo-von Willebrand Disease NCIT:C131681 Platelet-Type von Willebrand Disease OMIM:177820 updated pseudo-VON WILLEBRAND disease NCIT:C131681 NCIT MONDO:0008380 retinoblastoma oio:hasExactSynonym oio:hasRelatedSynonym RB Rb RB NCIT:C7541 Retinoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:180200 updated RB NCIT:C7541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg Craniosynostosis Syndrome NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome OMIM:182212, MONDO:Lexical updated Shprintzen-Goldberg craniosynostosis syndrome NCIT:C124840 NCIT -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat Cell Carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 updated oat cell carcinoma NCIT:C3915 NCIT -MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym oat cell carcinoma oat cell carcinoma Oat cell carcinoma NCIT:C3915 Small Cell Neuroendocrine Carcinoma DOID:5411 updated oat cell carcinoma NCIT:C3915 NCIT MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC NCIT:C4917 Lung Small Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 updated SCLC NCIT:C4917 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008437 hereditary spastic paraplegia 3A oio:hasExactSynonym oio:hasRelatedSynonym Strumpell disease Strumpell disease Strumpell Disease NCIT:C142893 Spastic Paraplegia 3A OMIM:182600 updated Strumpell disease NCIT:C142893 NCIT MONDO:0008438 hereditary spastic paraplegia 4 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 4 spastic paraplegia 4 Spastic Paraplegia 4 NCIT:C129981 Spastic Paraplegia 4 GARD:0004925 updated spastic paraplegia 4 NCIT:C129981 NCIT -MONDO:0008449 spina bifida oio:hasExactSynonym oio:hasRelatedSynonym NTD NCIT:C84923 Neural Tube Defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182940, MONDO:Lexical updated NTD NCIT:C84923 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym HMN1 NCIT:C132826 Distal Hereditary Motor Neuronopathy Type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:182960 updated HMN1 NCIT:C132826 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym Wadia-swami syndrome Wadia-swami syndrome Wadia-Swami Syndrome NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 updated Wadia-swami syndrome NCIT:C148315 NCIT MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 2 olivopontocerebellar atrophy 2 Olivopontocerebellar Atrophy 2 NCIT:C148315 Spinocerebellar Ataxia Type 2 OMIM:183090 updated olivopontocerebellar atrophy 2 NCIT:C148315 NCIT -MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym ectrodactyly ectrodactyly Ectrodactyly NCIT:C75000 Ectrodactyly OMIM:183600 updated ectrodactyly NCIT:C75000 NCIT MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 1 split-hand/foot malformation 1 Split-Hand/Foot Malformation 1 NCIT:C75045 Split-Hand/Foot Malformation Type 1 MONDO:Lexical, OMIM:183600 updated split-hand/foot malformation 1 NCIT:C75045 NCIT MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person Syndrome NCIT:C85170 Stiff Person Syndrome OMIM:184850 updated STIFF-PERSON syndrome NCIT:C85170 NCIT MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff Skin Syndrome NCIT:C118636 Stiff Skin Syndrome OMIM:184900 updated STIFF skin syndrome NCIT:C118636 NCIT -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia Rheumatica NCIT:C85018 Polymyalgia Rheumatica OMIM:187360 updated polymyalgia rheumatica NCIT:C85018 NCIT -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT NCIT:C84505 NCIT MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT NCIT:C84505 NCIT -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric Dysplasia NCIT:C85187 Thanatophoric Dysplasia OMIM:187600 updated thanatophoric dysplasia NCIT:C85187 NCIT +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT NCIT:C84505 NCIT MONDO:0008555 thrombocytopenia 2 oio:hasExactSynonym oio:hasRelatedSynonym THC2 NCIT:C129035 Thrombocytopenia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188000, MONDO:Lexical updated THC2 NCIT:C129035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia Orphanet:3002 updated immune thrombocytopenia NCIT:C3446 NCIT MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune Thrombocytopenic Purpura NCIT:C3446 Primary Immune Thrombocytopenia OMIM:188030 updated immune thrombocytopenic purpura NCIT:C3446 NCIT -MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3991 Thrombocytopenia Due to Immune Destruction Orphanet:3002 updated immune thrombocytopenia NCIT:C3991 NCIT MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasNarrowSynonym Shprintzen syndrome Shprintzen syndrome Shprintzen Syndrome NCIT:C2989 22q11.2 Deletion Syndrome NCIT:C2989 updated Shprintzen syndrome NCIT:C2989 NCIT MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOP syndrome WITKOP syndrome Witkop Syndrome NCIT:C40553 Tooth and Nail Syndrome OMIM:189500 updated WITKOP syndrome NCIT:C40553 NCIT MONDO:0008583 inherited torticollis oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular torticollis congenital muscular torticollis Congenital Muscular Torticollis NCIT:C4811 Fibromatosis Colli GARD:0004908, MESH:C535425 updated congenital muscular torticollis NCIT:C4811 NCIT -MONDO:0008585 HELLP syndrome oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy toxemia of pregnancy Toxemia of Pregnancy NCIT:C34943 Toxemia of Pregnancy OMIM:189800 updated toxemia of pregnancy NCIT:C34943 NCIT MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 trisomy 21 Trisomy 21 NCIT:C2993 Down Syndrome OMIM:190685, Orphanet:870, NCIT:C2993 updated trisomy 21 NCIT:C2993 NCIT MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 syndrome trisomy 21 syndrome Trisomy 21 Syndrome NCIT:C2993 Down Syndrome NCIT:C2993, DOID:14250 updated trisomy 21 syndrome NCIT:C2993 NCIT -MONDO:0008612 tuberous sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym tuberous sclerosis Complex tuberous sclerosis Complex Tuberous Sclerosis Complex NCIT:C3424 Tuberous Sclerosis OMIM:191100 updated tuberous sclerosis Complex NCIT:C3424 NCIT MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells Syndrome NCIT:C119054 Muckle-Wells Syndrome OMIM:191900 updated MUCKLE-Wells syndrome NCIT:C119054 NCIT MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS NCIT:C119054 Muckle-Wells Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 updated MWS NCIT:C119054 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varices varices Varices NCIT:C35114 Varicose Vein Wikipedia:Varices, DOID:799 updated varices NCIT:C35114 NCIT @@ -60710,7 +58985,6 @@ MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficien MONDO:0008736 peroxisome biogenesis disorder 2B oio:hasExactSynonym oio:hasRelatedSynonym PBD2B NCIT:C155751 Peroxisome Biogenesis Disorder 2B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:202370 updated PBD2B NCIT:C155751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008737 congenital afibrinogenemia oio:hasExactSynonym oio:hasRelatedSynonym afibrinogenemia afibrinogenemia Afibrinogenemia NCIT:C98130 Afibrinogenemia GARD:0005761 updated afibrinogenemia NCIT:C98130 NCIT MONDO:0008748 Hermansky-Pudlak syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HPS1 NCIT:C150367 Hermansky-Pudlak Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203300, MONDO:Lexical updated HPS1 NCIT:C150367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency MAT Deficiency NCIT:C123435 Methionine Adenosyltransferase Deficiency OMIM:203750 updated Mat deficiency NCIT:C123435 NCIT MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria Alpha-Methylacetoacetic Aciduria NCIT:C98841 Alpha-Methylacetoacetic Aciduria OMIM:203750 updated ALPHA-methylacetoacetic aciduria NCIT:C98841 NCIT MONDO:0008767 neuronal ceroid lipofuscinosis 3 oio:hasExactSynonym oio:hasRelatedSynonym batten disease batten disease Batten Disease NCIT:C61258 Neuronal Ceroid Lipofuscinosis Type 3 OMIM:204200 updated batten disease NCIT:C61258 NCIT MONDO:0008769 neuronal ceroid lipofuscinosis 2 oio:hasExactSynonym oio:hasBroadSynonym late infantile neuronal ceroid lipofuscinosis late infantile neuronal ceroid lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 NCIT:C85864 updated late infantile neuronal ceroid lipofuscinosis NCIT:C85864 NCIT @@ -60724,7 +58998,6 @@ MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A NCIT:C176806 Immunodeficiency 27A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical updated IMD27A NCIT:C176806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008858 Behr syndrome oio:hasExactSynonym oio:hasRelatedSynonym BEHRS NCIT:C177251 Behr Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210000 updated BEHRS NCIT:C177251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger Disease NCIT:C35070 Buerger Disease OMIM:211480 updated BUERGER disease NCIT:C35070 NCIT -MONDO:0008903 lung cancer oio:hasExactSynonym oio:hasRelatedSynonym lung neoplasm lung neoplasm Lung Neoplasm NCIT:C3200 Lung Neoplasm DOID:1324 updated lung neoplasm NCIT:C3200 NCIT MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-Acylcarnitine Translocase Deficiency NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency OMIM:212138 updated CARNITINE-acylcarnitine translocase deficiency NCIT:C133086 NCIT MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic primary carnitine deficiency systemic primary carnitine deficiency Systemic Primary Carnitine Deficiency NCIT:C98864 Primary Carnitine Deficiency Orphanet:158 updated systemic primary carnitine deficiency NCIT:C98864 NCIT MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-Lymphedema Syndrome NCIT:C35709 Aagenaes Syndrome OMIM:214900 updated cholestasis-lymphedema syndrome NCIT:C35709 NCIT @@ -60732,7 +59005,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphe MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHLS Chls CHLS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214900 updated CHLS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 updated LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym LCS1 NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000370 updated LCS1 NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia NCIT:C84639 Citrullinemia OMIM:215700, OMIM:genemap2 updated citrullinemia NCIT:C84639 NCIT MONDO:0009005 complement component C1r/C1s deficiency oio:hasExactSynonym oio:hasRelatedSynonym C1r/C1s deficiency C1r/C1s deficiency C1r/C1s Deficiency NCIT:C119991 C1r/C1s Deficiency OMIM:216950 updated C1r/C1s deficiency NCIT:C119991 NCIT MONDO:0009006 complement component 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C2 deficiency C2 deficiency C2 Deficiency NCIT:C119992 C2 Deficiency OMIM:217000 updated C2 deficiency NCIT:C119992 NCIT MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent Mineralocorticoid Excess NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency OMIM:218030 updated apparent mineralocorticoid EXCESS NCIT:C131083 NCIT @@ -60741,7 +59013,6 @@ MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTYS NCIT:C148371 Temtamy Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218340 updated TEMTYS NCIT:C148371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Cushing disease Cushing Disease NCIT:C113210 Cushing Disease GARD:0012867 updated Cushing disease NCIT:C113210 NCIT MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing's disease Cushing's disease Cushing's Disease NCIT:C113210 Cushing Disease GARD:0012867 updated Cushing's disease NCIT:C113210 NCIT -MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Corticotropinoma NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor DOID:7004, NCIT:C7462 updated Corticotropinoma NCIT:C7462 NCIT MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Complex IV deficiency Complex IV deficiency Complex IV Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency GARD:0000048 updated Complex IV deficiency NCIT:C98910 NCIT MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym cytochrome C oxidase deficiency cytochrome C oxidase deficiency Cytochrome C Oxidase Deficiency NCIT:C98910 Cytochrome-C Oxidase Deficiency OMIM:220110 updated cytochrome C oxidase deficiency NCIT:C98910 NCIT MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation Dandy-Walker malformation Dandy-Walker Malformation NCIT:C75012 Dandy-Walker Malformation OMIM:220200 updated Dandy-Walker malformation NCIT:C75012 NCIT @@ -60760,25 +59031,19 @@ MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009165 Aicardi-Goutieres syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AGS1 NCIT:C165501 Aicardi-Goutieres Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:225750 updated AGS1 NCIT:C165501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009176 epidermodysplasia verruciformis oio:hasExactSynonym oio:hasRelatedSynonym EV NCIT:C126877 Epidermodysplasia Verruciformis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:226400, MONDO:Lexical updated EV NCIT:C126877 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009197 transient erythroblastopenia of childhood oio:hasExactSynonym oio:hasRelatedSynonym TEC tec TEC NCIT:C131683 Transient Erythroblastopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:227050, MONDO:Lexical updated TEC NCIT:C131683 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009210 congenital factor V deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor V deficiency factor V deficiency Factor V Deficiency NCIT:C131738 Factor V Deficiency OMIM:227400 updated factor V deficiency NCIT:C131738 NCIT MONDO:0009211 congenital factor VII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor VII deficiency factor VII deficiency Factor VII Deficiency NCIT:C131631 Factor VII Deficiency OMIM:227500 updated factor VII deficiency NCIT:C131631 NCIT -MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor X deficiency factor X deficiency Factor X Deficiency NCIT:C131632 Factor X Deficiency OMIM:227600 updated factor X deficiency NCIT:C131632 NCIT MONDO:0009212 congenital factor X deficiency oio:hasExactSynonym oio:hasRelatedSynonym Stuart-Prower Factor deficiency Stuart-Prower Factor deficiency Stuart-Prower Factor Deficiency NCIT:C98940 Hereditary Factor X Deficiency OMIM:227600 updated Stuart-Prower Factor deficiency NCIT:C98940 NCIT MONDO:0009213 Fanconi anemia complementation group C oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group C Fanconi anemia, complementation group C Fanconi Anemia, Complementation Group C NCIT:C125704 Fanconi Anemia, Complementation Group C OMIM:227645, MONDO:Lexical updated Fanconi anemia, complementation group C NCIT:C125704 NCIT MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group D2 Fanconi anemia, complementation group D2 Fanconi Anemia, Complementation Group D2 NCIT:C125706 Fanconi Anemia, Complementation Group D2 MONDO:Lexical, OMIM:227646 updated Fanconi anemia, complementation group D2 NCIT:C125706 NCIT MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A Fanconi Anemia, Complementation Group A NCIT:C125702 Fanconi Anemia, Complementation Group A OMIM:227650, MONDO:Lexical updated Fanconi anemia, complementation group A NCIT:C125702 NCIT -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia NCIT:C62505 Fanconi Anemia OMIM:227650 updated Fanconi Anemia NCIT:C62505 NCIT MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK Deficiency NCIT:C114767 Galactokinase Deficiency OMIM:230200 updated Galk deficiency NCIT:C114767 NCIT MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C84725 updated eventration NCIT:C84725 NCIT -MONDO:0009264 gastroschisis oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C84725 updated eventration NCIT:C98997 NCIT MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency Platelet Glycoprotein Ib Deficiency NCIT:C84595 Bernard-Soulier Syndrome OMIM:231200 updated Platelet glycoprotein Ib deficiency NCIT:C84595 NCIT MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym GLC3A NCIT:C148260 Primary Congenital Glaucoma 3A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231300, MONDO:Lexical updated GLC3A NCIT:C148260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym Pfkm deficiency Pfkm deficiency PFKM Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 updated Pfkm deficiency NCIT:C118437 NCIT MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym muscle phosphofructokinase deficiency muscle phosphofructokinase deficiency Muscle Phosphofructokinase Deficiency NCIT:C118437 Glycogen Storage Disease Type VII OMIM:232800 updated muscle phosphofructokinase deficiency NCIT:C118437 NCIT MONDO:0009295 glycogen storage disease VII oio:hasExactSynonym oio:hasRelatedSynonym GSD7 NCIT:C118437 Glycogen Storage Disease Type VII http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:232800 updated GSD7 NCIT:C118437 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-Glomerular Basement Membrane Antibody Disease NCIT:C35798 Anti-Basement Membrane Glomerulonephritis GARD:0002551 updated anti-glomerular basement membrane antibody disease NCIT:C35798 NCIT MONDO:0009315 congenital factor XII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XII deficiency factor XII deficiency Factor XII Deficiency NCIT:C131740 Factor XII Deficiency OMIM:234000 updated factor XII deficiency NCIT:C131740 NCIT -MONDO:0009324 Hartnup disease oio:hasExactSynonym oio:hasRelatedSynonym HND NCIT:C40553 Tooth and Nail Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:234500 updated HND NCIT:C40553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Chl Chl cHL NCIT:C7164 Classic Hodgkin Lymphoma OMIM:236000, MONDO:Lexical updated Chl NCIT:C7164 NCIT MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym CHL Chl CHL NCIT:C7164 Classic Hodgkin Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236000, MONDO:Lexical updated CHL NCIT:C7164 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym homocystinuria-megaloblastic anemia, cblE complementation type homocystinuria-megaloblastic anemia, cblE complementation type Homocystinuria-Megaloblastic Anemia, cblE Complementation Type NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type OMIM:236270, MONDO:Lexical updated homocystinuria-megaloblastic anemia, cblE complementation type NCIT:C142173 NCIT @@ -60800,14 +59065,11 @@ MONDO:0009436 congenital hypothalamic hamartoma syndrome oio:hasExactSynonym oio MONDO:0009452 Vici syndrome oio:hasExactSynonym oio:hasRelatedSynonym VICIS NCIT:C138174 Vici Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:242840, MONDO:Lexical updated VICIS NCIT:C138174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke IMMUNOOSSEOUS dysplasia Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 updated Schimke IMMUNOOSSEOUS dysplasia NCIT:C135087 NCIT MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke Immunoosseous dysplasia Schimke Immunoosseous dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia OMIM:242900 updated Schimke Immunoosseous dysplasia NCIT:C135087 NCIT -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive hyper IgE syndrome autosomal recessive hyper IgE syndrome Autosomal Recessive hyper IgE syndrome NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated autosomal recessive hyper IgE syndrome NCIT:C126343 NCIT -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Kartagener syndrome Kartagener syndrome Kartagener Syndrome NCIT:C84797 Kartagener Syndrome OMIM:244400 updated Kartagener syndrome NCIT:C84797 NCIT MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PAPILLON-Lefevre syndrome PAPILLON-Lefevre syndrome Papillon-Lefevre Syndrome NCIT:C84992 Papillon-Lefevre Syndrome MONDO:Lexical, OMIM:245000 updated PAPILLON-Lefevre syndrome NCIT:C84992 NCIT MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide Beta-Galactosidase Deficiency NCIT:C61254 Krabbe Disease OMIM:245200 updated galactosylceramide Beta-galactosidase deficiency NCIT:C61254 NCIT -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C118632 Bardet-Biedl Syndrome OMIM:245800 updated Laurence-MOON syndrome NCIT:C118632 NCIT -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl syndrome Laurence-Moon-Biedl Syndrome NCIT:C118632 Bardet-Biedl Syndrome DOID:1930 updated Laurence-Moon-Biedl syndrome NCIT:C118632 NCIT MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon Syndrome NCIT:C34760 Laurence-Moon Syndrome OMIM:245800 updated Laurence-MOON syndrome NCIT:C34760 NCIT MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA Lyase Deficiency NCIT:C84523 HMG-CoA Lyase Deficiency OMIM:246450 updated HMG-Coa lyase deficiency NCIT:C84523 NCIT MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 3 split-hand/foot malformation 3 Split-Hand/Foot Malformation 3 NCIT:C75121 Split-Hand/Foot Malformation Type 3 OMIM:246560, MONDO:Lexical updated split-hand/foot malformation 3 NCIT:C75121 NCIT @@ -60829,8 +59091,6 @@ MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelat MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile Spinal Muscular Atrophy NCIT:C118847 Spinal Muscular Atrophy Type 3 Orphanet:83419 updated juvenile spinal muscular atrophy NCIT:C118847 NCIT MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Miyoshi Muscular Dystrophy 1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 OMIM:254130, MONDO:Lexical updated Miyoshi muscular dystrophy 1 NCIT:C118846 NCIT MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 NCIT:C118846 Miyoshi Muscular Dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 updated MMD1 NCIT:C118846 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis myelofibrosis Myelofibrosis NCIT:C3248 Myelofibrosis OMIM:254450 updated myelofibrosis NCIT:C3248 NCIT -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL Amyloidosis NCIT:C158963 AL Amyloidosis OMIM:254500 updated Al amyloidosis NCIT:C158963 NCIT MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia oio:hasExactSynonym oio:hasRelatedSynonym minicore myopathy with external ophthalmoplegia minicore myopathy with external ophthalmoplegia Minicore Myopathy with External Ophthalmoplegia NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia OMIM:255320 updated minicore myopathy with external ophthalmoplegia NCIT:C150608 NCIT MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym oio:hasRelatedSynonym NPH1 Nph1 NPH1 NCIT:C74998 Nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256100 updated NPH1 NCIT:C74998 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009733 nephrotic syndrome, type 4 oio:hasExactSynonym oio:hasRelatedSynonym diffuse mesangial sclerosis diffuse mesangial sclerosis Diffuse Mesangial Sclerosis NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis GARD:0003547 updated diffuse mesangial sclerosis NCIT:C121198 NCIT @@ -60839,18 +59099,13 @@ MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym neuram MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym Santavuori disease Santavuori disease Santavuori Disease NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 OMIM:256730 updated Santavuori disease NCIT:C85861 NCIT MONDO:0009744 neuronal ceroid lipofuscinosis 1 oio:hasExactSynonym oio:hasNarrowSynonym infantile neuronal ceroid lipofuscinosis infantile neuronal ceroid lipofuscinosis Infantile Neuronal Ceroid Lipofuscinosis NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 NCIT:C85861 updated infantile neuronal ceroid lipofuscinosis NCIT:C85861 NCIT MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 updated CIPA NCIT:C118633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C161542 Neuroaxonal Dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical updated NAD NCIT:C161542 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym oio:hasRelatedSynonym NAD NCIT:C3694 Dysplastic Nevus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:257150, MONDO:Lexical updated NAD NCIT:C3694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type A Niemann-PICK disease, type A Niemann-Pick Disease, Type A NCIT:C126561 Niemann-Pick Disease, Type A OMIM:257200 updated Niemann-PICK disease, type A NCIT:C126561 NCIT MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C1 Niemann-PICK disease, type C1 Niemann-Pick Disease, Type C1 NCIT:C126864 Niemann-Pick Disease, Type C1 OMIM:257220 updated Niemann-PICK disease, type C1 NCIT:C126864 NCIT MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria Orphanet:30 updated hereditary orotic aciduria NCIT:C98944 NCIT -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSynonym oio:hasRelatedSynonym Torg-Winchester syndrome Torg-Winchester syndrome Torg-Winchester Syndrome NCIT:C170731 Winchester Syndrome OMIM:259600 updated Torg-Winchester syndrome NCIT:C170731 NCIT MONDO:0009820 osteoporosis-pseudoglioma syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis pseudoglioma syndrome osteoporosis pseudoglioma syndrome Osteoporosis Pseudoglioma Syndrome NCIT:C130998 Osteoporosis Pseudoglioma Syndrome GARD:0004160 updated osteoporosis pseudoglioma syndrome NCIT:C130998 NCIT -MONDO:0009831 malignant pancreatic neoplasm oio:hasExactSynonym oio:hasBroadSynonym pancreas neoplasm pancreas neoplasm Pancreas Neoplasm NCIT:C3305 Pancreatic Neoplasm DOID:1793 updated pancreas neoplasm NCIT:C3305 NCIT MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of Choroid Plexus NCIT:C3698 Choroid Plexus Papilloma OMIM:260500, MONDO:Lexical, NCIT:C3698 updated papilloma of choroid plexus NCIT:C3698 NCIT MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma, choroid plexus, benign papilloma, choroid plexus, benign PAPILLOMA, CHOROID PLEXUS, BENIGN NCIT:C3698 Choroid Plexus Papilloma NCIT:C3698 updated papilloma, choroid plexus, benign NCIT:C3698 NCIT -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid Plexus Carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 updated choroid plexus carcinoma NCIT:C4715 NCIT -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma NCIT:C4715 Choroid Plexus Carcinoma OMIM:260500 updated choroid plexus carcinoma NCIT:C4715 NCIT MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym oio:hasRelatedSynonym hernia uteri inguinale hernia uteri inguinale Hernia Uteri Inguinale NCIT:C120188 Persistent Mullerian Duct Syndrome OMIM:261550 updated hernia uteri inguinale NCIT:C120188 NCIT MONDO:0009862 dihydropteridine reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HPABH4C NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261630, MONDO:Lexical updated HPABH4C NCIT:C138173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Phosphoglycerate mutase deficiency Phosphoglycerate mutase deficiency Phosphoglycerate Mutase Deficiency NCIT:C131647 Phosphoglycerate Mutase Deficiency GARD:0009964 updated Phosphoglycerate mutase deficiency NCIT:C131647 NCIT @@ -60858,7 +59113,6 @@ MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence Pierre Robin sequence Pierre Robin Sequence NCIT:C85010 Pierre Robin Syndrome OMIM:261800, MESH:D010855 updated Pierre Robin sequence NCIT:C85010 NCIT MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome Pierre Robin syndrome Pierre Robin Syndrome NCIT:C85010 Pierre Robin Syndrome MONDO:Lexical, OMIM:261800 updated Pierre Robin syndrome NCIT:C85010 NCIT MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Robin sequence Robin sequence Robin Sequence NCIT:C85010 Pierre Robin Syndrome MESH:D010855 updated Robin sequence NCIT:C85010 NCIT -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth Hormone Insensitivity Syndrome NCIT:C129867 Growth Hormone Insensitivity Syndrome OMIM:262500 updated growth hormone insensitivity syndrome NCIT:C129867 NCIT MONDO:0009887 desquamative interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym DIP NCIT:C35288 Desquamative Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:263000 updated DIP NCIT:C35288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BPS NCIT:C168990 Bartsocas-Papas Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004436 updated BPS NCIT:C168990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP NCIT:C84697 Erythropoietic Porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 updated CEP NCIT:C84697 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -60868,8 +59122,6 @@ MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynon MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly-polydactyly syndrome holoprosencephaly-polydactyly syndrome Holoprosencephaly-Polydactyly Syndrome NCIT:C125418 Pseudotrisomy 13 Syndrome OMIM:264480 updated holoprosencephaly-polydactyly syndrome NCIT:C125418 NCIT MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma Elasticum NCIT:C85036 Pseudoxanthoma Elasticum MONDO:Lexical, OMIM:264800 updated pseudoxanthoma elasticum NCIT:C85036 NCIT MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary Atresia with Intact Ventricular Septum NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum OMIM:265150 updated pulmonary atresia with intact ventricular septum NCIT:C99032 NCIT -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal circulation persistent fetal circulation Persistent Fetal Circulation NCIT:C85006 Persistent Fetal Circulation ICD9CM:747.83, DOID:13042 updated persistent fetal circulation NCIT:C85006 NCIT -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym oio:hasRelatedSynonym persistent pulmonary hypertension of the newborn persistent pulmonary hypertension of the newborn Persistent Pulmonary Hypertension of the Newborn NCIT:C85006 Persistent Fetal Circulation DOID:13042 updated persistent pulmonary hypertension of the newborn NCIT:C85006 NCIT MONDO:0009948 pyropoikilocytosis, hereditary oio:hasExactSynonym oio:hasRelatedSynonym hereditary pyropoikilocytosis hereditary pyropoikilocytosis Hereditary Pyropoikilocytosis NCIT:C98943 Hereditary Pyropoikilocytosis GARD:0004619 updated hereditary pyropoikilocytosis NCIT:C98943 NCIT MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate Carboxylase Deficiency NCIT:C85040 Pyruvate Carboxylase Deficiency OMIM:266150 updated pyruvate carboxylase deficiency NCIT:C85040 NCIT MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym oio:hasRelatedSynonym pyruvate kinase deficiency pyruvate kinase deficiency Pyruvate Kinase Deficiency NCIT:C99037 Pyruvate Kinase Deficiency GARD:0007514 updated pyruvate kinase deficiency NCIT:C99037 NCIT @@ -60884,25 +59136,16 @@ MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy D MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant GM2-Gangliosidosis, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 updated GM2-gangliosidosis, AB variant NCIT:C133084 NCIT MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym Tay-Sachs disease, AB variant Tay-Sachs disease, AB variant Tay-Sachs Disease, AB Variant NCIT:C133084 GM2-Gangliosidosis, AB Variant OMIM:272750 updated Tay-Sachs disease, AB variant NCIT:C133084 NCIT MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs Disease NCIT:C85184 Tay-Sachs Disease OMIM:272800 updated TAY-Sachs disease NCIT:C85184 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 updated endodermal sinus tumor NCIT:C3011 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor OMIM:273300 updated endodermal sinus tumor NCIT:C3011 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 updated spermatocytic seminoma NCIT:C39921 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic Seminoma NCIT:C39921 Testicular Spermatocytic Tumor OMIM:273300 updated spermatocytic seminoma NCIT:C39921 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym testicular germ cell cancer testicular germ cell cancer Testicular Germ Cell Cancer NCIT:C9063 Malignant Testicular Germ Cell Tumor DOID:5557 updated testicular germ cell cancer NCIT:C9063 NCIT -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym seminoma seminoma Seminoma NCIT:C9309 Seminoma OMIM:273300 updated seminoma NCIT:C9309 NCIT MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR Syndrome NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 updated Tar syndrome NCIT:C99038 NCIT MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 1Q21.1 deletion syndrome, 200-Kb chromosome 1Q21.1 deletion syndrome, 200-Kb Chromosome 1q21.1 Deletion Syndrome, 200-Kb NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome OMIM:274000 updated chromosome 1Q21.1 deletion syndrome, 200-Kb NCIT:C99038 NCIT MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAR NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274000 updated TAR NCIT:C99038 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 updated TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DPD deficiency DPD deficiency DPD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 updated DPD deficiency NCIT:C84672 NCIT MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency DPYD Deficiency NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency OMIM:274270 updated Dpyd deficiency NCIT:C84672 NCIT MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance thyroid hormone resistance Thyroid Hormone Resistance NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 updated thyroid hormone resistance NCIT:C85191 NCIT MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone resistance syndrome thyroid hormone resistance syndrome Thyroid Hormone Resistance Syndrome NCIT:C85191 Thyroid Hormone Resistance Syndrome NCIT:C85191 updated thyroid hormone resistance syndrome NCIT:C85191 NCIT MONDO:0010132 familial thyroid dyshormonogenesis oio:hasExactSynonym oio:hasBroadSynonym dyshormonogenesis dyshormonogenesis Dyshormonogenesis NCIT:C121751 Thyroid Dyshormonogenesis NCIT:C121751 updated dyshormonogenesis NCIT:C121751 NCIT MONDO:0010133 thyroid dyshormonogenesis 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid peroxidase deficiency thyroid peroxidase deficiency Thyroid Peroxidase Deficiency NCIT:C121750 Thyroid Peroxidase Deficiency OMIM:274500 updated thyroid peroxidase deficiency NCIT:C121750 NCIT -MONDO:0010134 Pendred syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDS NCIT:C5576 Skin Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:274600, MONDO:Lexical updated PDS NCIT:C5576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism hypothalamic hypothyroidism Hypothalamic Hypothyroidism NCIT:C121741 Hypothalamic Hypothyroidism OMIM:275120 updated hypothalamic hypothyroidism NCIT:C121741 NCIT -MONDO:0010150 head and neck squamous cell carcinoma oio:hasExactSynonym oio:hasNarrowSynonym carcinoma of the head and neck carcinoma of the head and neck Carcinoma of the Head and Neck NCIT:C35850 Head and Neck Carcinoma NCIT:C35850, DOID:5520 updated carcinoma of the head and neck NCIT:C35850 NCIT MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym congenital bilateral aplasia of the vas deferens congenital bilateral aplasia of the vas deferens Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens NCIT:C129303 updated congenital bilateral aplasia of the vas deferens NCIT:C129303 NCIT MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 updated CAVD NCIT:C129303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic aciduria and homocystinuria, cblC type methylmalonic aciduria and homocystinuria, cblC type Methylmalonic Aciduria and Homocystinuria, cblC Type NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type OMIM:277400 updated methylmalonic aciduria and homocystinuria, cblC type NCIT:C142174 NCIT @@ -60921,8 +59164,6 @@ MONDO:0010213 xeroderma pigmentosum group E oio:hasExactSynonym oio:hasRelatedSy MONDO:0010215 xeroderma pigmentosum group F oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group F xeroderma pigmentosum, complementation group F Xeroderma Pigmentosum, Complementation Group F NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F OMIM:278760, MONDO:Lexical updated xeroderma pigmentosum, complementation group F NCIT:C3968 NCIT MONDO:0010216 xeroderma pigmentosum group G oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum, complementation group G xeroderma pigmentosum, complementation group G Xeroderma Pigmentosum, Complementation Group G NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G OMIM:278780, MONDO:Lexical updated xeroderma pigmentosum, complementation group G NCIT:C3969 NCIT MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita NCIT:C123725 updated adrenal hypoplasia congenita NCIT:C123725 NCIT -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym adrenal hypoplasia congenita adrenal hypoplasia congenita Adrenal Hypoplasia Congenita NCIT:C35261 Congenital Adrenal Gland Hypoplasia NCIT:C123725 updated adrenal hypoplasia congenita NCIT:C35261 NCIT -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC NCIT:C35261 Congenital Adrenal Gland Hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical updated AHC NCIT:C35261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 Duplication Syndrome NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome OMIM:300260 updated MECP2 Duplication syndrome NCIT:C126747 NCIT MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency X-linked creatine transporter deficiency X-Linked Creatine Transporter Deficiency NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 Orphanet:52503 updated X-linked creatine transporter deficiency NCIT:C125665 NCIT MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym CCDS1 NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300352 updated CCDS1 NCIT:C125665 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -60953,12 +59194,8 @@ MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets X-linked hypophosphatemic rickets X-linked Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets Orphanet:89936 updated X-linked hypophosphatemic rickets NCIT:C85234 NCIT MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets OMIM:307800 updated hypophosphatemic vitamin D-resistant rickets NCIT:C85234 NCIT MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, X-linked ichthyosis, X-linked Ichthyosis, X-linked NCIT:C84779 X-Linked Ichthyosis OMIM:308100, MONDO:Lexical updated ichthyosis, X-linked NCIT:C84779 NCIT -MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym hyper IgM syndrome hyper IgM syndrome Hyper IgM Syndrome NCIT:C3990 Hyperimmunoglobulin M Syndrome GARD:0000073 updated hyper IgM syndrome NCIT:C3990 NCIT MONDO:0010626 hyper-IgM syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym CD40 ligand deficiency CD40 ligand deficiency CD40 Ligand Deficiency NCIT:C61244 CD40 Ligand Deficiency NCIT:C61244 updated CD40 ligand deficiency NCIT:C61244 NCIT -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym KMS NCIT:C124837 Kabuki Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308700 updated KMS NCIT:C124837 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 1 Kallmann syndrome 1 Kallmann Syndrome 1 NCIT:C75480 Kallmann Syndrome 1 OMIM:308700 updated Kallmann syndrome 1 NCIT:C75480 NCIT -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem Cell Leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 updated stem cell leukemia NCIT:C9298 NCIT -MONDO:0010643 acute leukemia oio:hasExactSynonym oio:hasRelatedSynonym stem cell leukemia stem cell leukemia Stem cell leukemia NCIT:C9298 Acute Undifferentiated Leukemia NCIT:C9298, DOID:12603 updated stem cell leukemia NCIT:C9298 NCIT MONDO:0010653 Renpenning syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Renpenning type mental retardation, X-linked, Renpenning type Mental Retardation, X-Linked, Renpenning Type NCIT:C165533 Renpenning Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309500 updated mental retardation, X-linked, Renpenning type NCIT:C165533 NCIT MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy 1 myotubular myopathy 1 Myotubular Myopathy 1 NCIT:C118781 X-Linked Centronuclear Myopathy OMIM:310400 updated myotubular myopathy 1 NCIT:C118781 NCIT MONDO:0010683 X-linked myotubular myopathy oio:hasExactSynonym oio:hasRelatedSynonym CNMX NCIT:C118781 X-Linked Centronuclear Myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:310400 updated CNMX NCIT:C118781 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -60973,8 +59210,6 @@ MONDO:0010790 MERRF syndrome oio:hasExactSynonym oio:hasRelatedSynonym myoclonic MONDO:0010795 oncocytic neoplasm oio:hasExactSynonym oio:hasBroadSynonym oncocytoma oncocytoma Oncocytoma NCIT:C7072 Oncocytic Neoplasm NCIT:C7072 updated oncocytoma NCIT:C7072 NCIT MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal Familial Insomnia NCIT:C84711 Fatal Familial Insomnia OMIM:600072 updated fatal familial INSOMNIA NCIT:C84711 NCIT MONDO:0010811 benign prostatic hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym BPH NCIT:C2897 Benign Prostatic Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600082, MONDO:Lexical updated BPH NCIT:C2897 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia NCIT:C118455 Sirenomelia OMIM:600145 updated sirenomelia NCIT:C118455 NCIT -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia SIRENOMELIA NCIT:C118455 Sirenomelia OMIM:600145 updated sirenomelia NCIT:C118455 NCIT MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal Regression Syndrome NCIT:C99054 Sacral Agenesis OMIM:600145 updated caudal regression syndrome NCIT:C99054 NCIT MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sacral agenesis sacral agenesis Sacral Agenesis NCIT:C99054 Sacral Agenesis OMIM:600145 updated sacral agenesis NCIT:C99054 NCIT MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q37 deletion syndrome chromosome 2q37 deletion syndrome Chromosome 2q37 Deletion Syndrome NCIT:C129021 Chromosome 2q37 Deletion Syndrome OMIM:600430 updated chromosome 2q37 deletion syndrome NCIT:C129021 NCIT @@ -60985,11 +59220,6 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 NCIT:C142894 Long QT Syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 updated LQT8 NCIT:C142894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB NCIT:C5669 Pleuropulmonary Blastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601200 updated PPB NCIT:C5669 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011055 distal monosomy 10p oio:hasExactSynonym oio:hasRelatedSynonym DGS2 Dgs2 DGS2 NCIT:C130982 10p13-p14 Deletion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601362 updated DGS2 NCIT:C130982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C3390 Stroke OMIM:601367 updated cerebral infarction NCIT:C3390 NCIT -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrovascular accident cerebrovascular accident Cerebrovascular Accident NCIT:C3390 Stroke DOID:6713 updated cerebrovascular accident NCIT:C3390 NCIT -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym stroke stroke Stroke NCIT:C3390 Stroke DOID:6713 updated stroke NCIT:C3390 NCIT -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym CVA NCIT:C3390 Stroke http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:6713 updated CVA NCIT:C3390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011057 cerebrovascular disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebral infarction cerebral infarction Cerebral Infarction NCIT:C50486 Cerebral Infarction OMIM:601367 updated cerebral infarction NCIT:C50486 NCIT MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase Deficiency NCIT:C129073 Mucopolysaccharidosis Type IX OMIM:601492 updated hyaluronidase deficiency NCIT:C129073 NCIT MONDO:0011094 dilated cardiomyopathy 1C oio:hasExactSynonym oio:hasRelatedSynonym CMD1C NCIT:C170436 Dilated Cardiomyopathy-1C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601493, MONDO:Lexical updated CMD1C NCIT:C170436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym oio:hasRelatedSynonym PBD1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601539 updated PBD1B NCIT:C155749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -60997,8 +59227,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio: MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym infantile convulsions and paroxysmal choreoathetosis, familial infantile convulsions and paroxysmal choreoathetosis, familial Infantile Convulsions and Paroxysmal Choreoathetosis, Familial NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 updated infantile convulsions and paroxysmal choreoathetosis, familial NCIT:C126650 NCIT MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions paroxysmal kinesigenic dyskinesia with infantile convulsions Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial OMIM:602066 updated paroxysmal kinesigenic dyskinesia with infantile convulsions NCIT:C126650 NCIT MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 updated ICCA NCIT:C126650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA ICCA iCCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 updated ICCA NCIT:C35417 NCIT -MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym oio:hasRelatedSynonym ICCA NCIT:C35417 Intrahepatic Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:602066 updated ICCA NCIT:C35417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 2 dystrophia myotonica 2 Dystrophia Myotonica 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668 updated dystrophia myotonica 2 NCIT:C84680 NCIT MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 2 myotonic dystrophy 2 Myotonic Dystrophy 2 NCIT:C84680 Dystrophia Myotonica 2 OMIM:602668, MONDO:Lexical updated myotonic dystrophy 2 NCIT:C84680 NCIT MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 NCIT:C84680 Dystrophia Myotonica 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical updated DM2 NCIT:C84680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61008,11 +59236,7 @@ MONDO:0011281 congenital myasthenic syndrome 5 oio:hasExactSynonym oio:hasRelate MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group F Fanconi anemia, complementation group F Fanconi Anemia, Complementation Group F NCIT:C125707 Fanconi Anemia, Complementation Group F OMIM:603467, MONDO:Lexical updated Fanconi anemia, complementation group F NCIT:C125707 NCIT MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym NIID Niid NIID NCIT:C122655 Neuronal Intranuclear Inclusion Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603472 updated NIID NCIT:C122655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia with JOINT laxity type 2 spondyloepimetaphyseal dysplasia with JOINT laxity type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 OMIM:603546, MONDO:Lexical updated spondyloepimetaphyseal dysplasia with JOINT laxity type 2 NCIT:C125419 NCIT -MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym ovarian germ cell cancer ovarian germ cell cancer Ovarian Germ Cell Cancer NCIT:C4514 Malignant Ovarian Germ Cell Tumor OMIM:603737 updated ovarian germ cell cancer NCIT:C4514 NCIT -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym lumbar disc degeneration lumbar disc degeneration Lumbar Disc Degeneration NCIT:C27154 Lumbar Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 updated lumbar disc degeneration NCIT:C27154 NCIT -MONDO:0011385 intervertebral disk degenerative disorder oio:hasExactSynonym oio:hasNarrowSynonym cervical disc degenerative disease cervical disc degenerative disease Cervical Disc Degenerative Disease NCIT:C27156 Cervical Disc Degenerative Disorder http://purl.obolibrary.org/obo/OMO_0003005 updated cervical disc degenerative disease NCIT:C27156 NCIT MONDO:0011405 poikiloderma with neutropenia oio:hasExactSynonym oio:hasRelatedSynonym PN NCIT:C177535 Poikiloderma with Neutropenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604173 updated PN NCIT:C177535 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym juvenile chronic polyarthritis juvenile chronic polyarthritis Juvenile Chronic Polyarthritis NCIT:C26979 Juvenile Chronic Polyarthritis DOID:676 updated juvenile chronic polyarthritis NCIT:C26979 NCIT MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 11 spastic paraplegia 11 Spastic Paraplegia 11 NCIT:C148317 Spastic Paraplegia 11 GARD:0004919 updated spastic paraplegia 11 NCIT:C148317 NCIT MONDO:0011445 hereditary spastic paraplegia 11 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum NCIT:C148317 Spastic Paraplegia 11 OMIM:604360 updated spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum NCIT:C148317 NCIT MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome oio:hasExactSynonym oio:hasRelatedSynonym pyogenic arthritis, pyoderma gangrenosum and acne pyogenic arthritis, pyoderma gangrenosum and acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne GARD:0009176 updated pyogenic arthritis, pyoderma gangrenosum and acne NCIT:C119055 NCIT @@ -61022,11 +59246,10 @@ MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:ha MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine Encephalopathy NCIT:C84937 Glycine Encephalopathy OMIM:605899 updated GLYCINE encephalopathy NCIT:C84937 NCIT MONDO:0011632 amyotrophic lateral sclerosis type 21 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 21 amyotrophic lateral sclerosis 21 Amyotrophic Lateral Sclerosis 21 NCIT:C168755 Amyotrophic Lateral Sclerosis 21 MONDO:Lexical, OMIM:606070 updated amyotrophic lateral sclerosis 21 NCIT:C168755 NCIT MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 Deletion Syndrome NCIT:C157124 Phelan-McDermid Syndrome OMIM:606232 updated chromosome 22Q13.3 deletion syndrome NCIT:C157124 NCIT -MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical updated alveolar soft PART sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical updated alveolar soft PART sarcoma NCIT:C3750 NCIT +MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C3750 Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical updated alveolar soft PART sarcoma NCIT:C3750 NCIT MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar Soft Part Sarcoma NCIT:C7943 Adult Alveolar Soft Part Sarcoma OMIM:606243, MONDO:Lexical updated alveolar soft PART sarcoma NCIT:C7943 NCIT MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasRelatedSynonym LAM NCIT:C3725 Lymphangioleiomyomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:538, OMIM:606690 updated LAM NCIT:C3725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011705 lymphangioleiomyomatosis oio:hasExactSynonym oio:hasNarrowSynonym lung lymphangioleiomyomatosis lung lymphangioleiomyomatosis Lung Lymphangioleiomyomatosis NCIT:C38153 Lung Lymphangioleiomyomatosis DOID:3319 updated lung lymphangioleiomyomatosis NCIT:C38153 NCIT MONDO:0011709 split hand-foot malformation 5 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 5 split-hand/foot malformation 5 Split-Hand/Foot Malformation 5 NCIT:C75002 Split-Hand/Foot Malformation Type 5 MONDO:Lexical, OMIM:606708 updated split-hand/foot malformation 5 NCIT:C75002 NCIT MONDO:0011713 melanoma-pancreatic cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome OMIM:606719 updated familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome NCIT:C176904 NCIT MONDO:0011732 familial digital arthropathy-brachydactyly oio:hasExactSynonym oio:hasRelatedSynonym FDAB NCIT:C175208 Familial Digital Arthropathy-Brachydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:606835 updated FDAB NCIT:C175208 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61034,39 +59257,22 @@ MONDO:0011738 bilateral frontoparietal polymicrogyria oio:hasExactSynonym oio:ha MONDO:0011743 Alzheimer disease 4 oio:hasExactSynonym oio:hasRelatedSynonym AD4 Ad4 AD4 NCIT:C123413 Alzheimer's Disease 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606889 updated AD4 NCIT:C123413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011776 CINCA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CINCA NCIT:C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607115 updated CINCA NCIT:C116380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011784 Moyamoya disease 2 oio:hasExactSynonym oio:hasRelatedSynonym MYMY2 NCIT:C183312 Moyamoya Disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607151, MONDO:Lexical updated MYMY2 NCIT:C183312 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym seasonal allergic rhinitis seasonal allergic rhinitis Seasonal Allergic Rhinitis NCIT:C92188 Seasonal Allergic Rhinitis DOID:4481 updated seasonal allergic rhinitis NCIT:C92188 NCIT -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym non-seasonal allergic rhinitis non-seasonal allergic rhinitis Non-seasonal Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 updated non-seasonal allergic rhinitis NCIT:C92189 NCIT -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial Allergic Rhinitis NCIT:C92189 Perennial Allergic Rhinitis DOID:4481 updated perennial allergic rhinitis NCIT:C92189 NCIT MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-Girdle Muscular Dystrophy Type 2I NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 GARD:0012533 updated limb-girdle muscular dystrophy type 2I NCIT:C126739 NCIT -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C3230 Meningioma OMIM:genemap2, OMIM:607174 updated meningioma NCIT:C3230 NCIT -MONDO:0011789 familial meningioma oio:hasExactSynonym oio:hasBroadSynonym meningioma meningioma Meningioma NCIT:C8264 Childhood Meningioma OMIM:genemap2, OMIM:607174 updated meningioma NCIT:C8264 NCIT MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym GCCD2 NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607398 updated GCCD2 NCIT:C123728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy psoriatic arthropathy Psoriatic Arthropathy NCIT:C61277 Psoriatic Arthritis DOID:9008 updated psoriatic arthropathy NCIT:C61277 NCIT MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B Niemann-Pick Disease, Type B NCIT:C126866 Niemann-Pick Disease, Type B OMIM:607616 updated Niemann-PICK disease, type B NCIT:C126866 NCIT MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome PAID Syndrome NCIT:C111814 Griscelli Syndrome Type 2 OMIM:607624 updated Paid syndrome NCIT:C111814 NCIT MONDO:0011873 Niemann-Pick disease, type C2 oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type C2 Niemann-PICK disease, type C2 Niemann-Pick Disease, Type C2 NCIT:C126865 Niemann-Pick Disease, Type C2 OMIM:607625 updated Niemann-PICK disease, type C2 NCIT:C126865 NCIT MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym TINU NCIT:C123021 Tubulointerstitial Nephritis and Uveitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607665 updated TINU NCIT:C123021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 updated Noonan syndrome-like disorder with loose anagen hair 1 NCIT:C176939 NCIT -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 updated NSLH1 NCIT:C176939 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 updated NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic Myelomonocytic Leukemia NCIT:C3178 Chronic Myelomonocytic Leukemia NCIT:C9233 updated chronic myelomonocytic leukemia NCIT:C3178 NCIT -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym endometrial neoplasm endometrial neoplasm Endometrial Neoplasm NCIT:C3012 Endometrial Neoplasm DOID:1380 updated endometrial neoplasm NCIT:C3012 NCIT -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym neoplasm of endometrium neoplasm of endometrium Neoplasm of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380 updated neoplasm of endometrium NCIT:C3012 NCIT -MONDO:0011962 endometrial cancer oio:hasExactSynonym oio:hasBroadSynonym tumor of endometrium tumor of endometrium Tumor of Endometrium NCIT:C3012 Endometrial Neoplasm DOID:1380, NCIT:C3012 updated tumor of endometrium NCIT:C3012 NCIT MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 39 deafness, autosomal recessive 39 Deafness, Autosomal Recessive 39 NCIT:C129874 Deafness, Autosomal Recessive 39 MONDO:Lexical, OMIM:608265, OMIM:genemap2 updated deafness, autosomal recessive 39 NCIT:C129874 NCIT MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym oio:hasNarrowSynonym DFNB39 NCIT:C129874 Deafness, Autosomal Recessive 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110497, MONDO:Lexical, OMIM:608265 updated DFNB39 NCIT:C129874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland neoplasm parathyroid gland neoplasm Parathyroid Gland Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540, NCIT:C3313 updated parathyroid gland neoplasm NCIT:C3313 NCIT -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid neoplasm parathyroid neoplasm Parathyroid Neoplasm NCIT:C3313 Parathyroid Gland Neoplasm DOID:1540 updated parathyroid neoplasm NCIT:C3313 NCIT MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of parathyroid gland cancer of parathyroid gland Cancer of Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 updated cancer of parathyroid gland NCIT:C4906 NCIT MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the parathyroid gland cancer of the parathyroid gland Cancer of the Parathyroid Gland NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 updated cancer of the parathyroid gland NCIT:C4906 NCIT MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid cancer parathyroid cancer Parathyroid Cancer NCIT:C4906 Parathyroid Gland Carcinoma NCIT:C4906 updated parathyroid cancer NCIT:C4906 NCIT MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym parathyroid gland cancer parathyroid gland cancer Parathyroid Gland Cancer NCIT:C4906 Parathyroid Gland Carcinoma DOID:1540, NCIT:C4906 updated parathyroid gland cancer NCIT:C4906 NCIT -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of parathyroid gland malignant neoplasm of parathyroid gland Malignant Neoplasm of Parathyroid Gland NCIT:C9322 Malignant Parathyroid Gland Neoplasm ICD9CM:194.1, DOID:1540 updated malignant neoplasm of parathyroid gland NCIT:C9322 NCIT -MONDO:0012004 parathyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid Malignant Neoplasm of the Parathyroid NCIT:C9322 Malignant Parathyroid Gland Neoplasm NCIT:C9322, DOID:1540 updated malignant neoplasm of the parathyroid NCIT:C9322 NCIT MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary Malformation-Arteriovenous Malformation NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome OMIM:608354, MONDO:Lexical updated capillary malformation-arteriovenous malformation NCIT:C179668 NCIT MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym oio:hasRelatedSynonym MYH-associated polyposis MYH-associated polyposis MYH-Associated Polyposis NCIT:C96520 MUTYH-Associated Polyposis GARD:0010805 updated MYH-associated polyposis NCIT:C96520 NCIT -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym major depressive disorder major depressive disorder Major Depressive Disorder NCIT:C35094 Unipolar Depression MONDO:Lexical, OMIM:608516 updated major depressive disorder NCIT:C35094 NCIT -MONDO:0012048 endogenous depression oio:hasExactSynonym oio:hasRelatedSynonym unipolar depression unipolar depression Unipolar Depression NCIT:C35094 Unipolar Depression OMIM:608516, DOID:1595 updated unipolar depression NCIT:C35094 NCIT MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 15q11-q13 DUPLICATION syndrome chromosome 15q11-q13 DUPLICATION syndrome Chromosome 15q11-q13 Duplication Syndrome NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome OMIM:608636 updated chromosome 15q11-q13 DUPLICATION syndrome NCIT:C126692 NCIT MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Aadc deficiency Aadc deficiency AADC Deficiency NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency OMIM:608643 updated Aadc deficiency NCIT:C142085 NCIT MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial Trifunctional Protein Deficiency NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency OMIM:609015 updated mitochondrial trifunctional PROTEIN deficiency NCIT:C98991 NCIT @@ -61075,11 +59281,9 @@ MONDO:0012186 Fanconi anemia complementation group I oio:hasExactSynonym oio:has MONDO:0012187 Fanconi anemia complementation group J oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group J Fanconi anemia, complementation group J Fanconi Anemia, Complementation Group J NCIT:C129027 Fanconi Anemia, Complementation Group J OMIM:609054, MONDO:Lexical updated Fanconi anemia, complementation group J NCIT:C129027 NCIT MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym combined oxidative phosphorylation deficiency 1 combined oxidative phosphorylation deficiency 1 Combined Oxidative Phosphorylation Deficiency 1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 OMIM:609060, MONDO:Lexical updated combined oxidative phosphorylation deficiency 1 NCIT:C125663 NCIT MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oio:hasExactSynonym oio:hasRelatedSynonym COXPD1 NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609060, MONDO:Lexical updated COXPD1 NCIT:C125663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012197 idiopathic aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym aplastic anemia aplastic anemia Aplastic Anemia NCIT:C2870 Aplastic Anemia OMIM:609135 updated aplastic anemia NCIT:C2870 NCIT MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 oio:hasExactSynonym oio:hasRelatedSynonym CMT2A2A NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609260 updated CMT2A2A NCIT:C150646 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2K limb-girdle muscular dystrophy type 2K Limb-Girdle Muscular Dystrophy Type 2K NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 GARD:0012535 updated limb-girdle muscular dystrophy type 2K NCIT:C133730 NCIT MONDO:0012249 Lynch syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HNPCC2 NCIT:C6726 Lynch 2 Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609310, MONDO:Lexical updated HNPCC2 NCIT:C6726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AT/RT At/RT AT/RT NCIT:C6906 Atypical Teratoid/Rhabdoid Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609322 updated AT/RT NCIT:C6906 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012268 AIDS oio:hasExactSynonym oio:hasRelatedSynonym acquired immunodeficiency syndrome acquired immunodeficiency syndrome Acquired Immunodeficiency Syndrome NCIT:C2851 Acquired Immunodeficiency Syndrome DOID:635 updated acquired immunodeficiency syndrome NCIT:C2851 NCIT MONDO:0012308 Joubert syndrome with renal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 4 Joubert syndrome 4 Joubert Syndrome 4 NCIT:C74997 Joubert Syndrome 4 GARD:0010169, OMIM:609583, MONDO:Lexical updated Joubert syndrome 4 NCIT:C74997 NCIT MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed Syndrome NCIT:C119058 Majeed Syndrome OMIM:609628 updated MAJEED syndrome NCIT:C119058 NCIT @@ -61102,11 +59306,9 @@ MONDO:0012727 mucocutaneous lymph node syndrome oio:hasExactSynonym oio:hasRelat MONDO:0012734 SERKAL syndrome oio:hasExactSynonym oio:hasRelatedSynonym 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs NCIT:C123726 SERKAL Syndrome OMIM:611812, MONDO:Lexical updated 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs NCIT:C123726 NCIT MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 16p11.2 deletion syndrome chromosome 16p11.2 deletion syndrome Chromosome 16p11.2 Deletion Syndrome NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome GARD:0010740 updated chromosome 16p11.2 deletion syndrome NCIT:C120408 NCIT MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 oio:hasExactSynonym oio:hasRelatedSynonym CPVT2 NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611938, MONDO:Lexical updated CPVT2 NCIT:C148368 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym neuroepithelioma neuroepithelioma Neuroepithelioma NCIT:C3716 Primitive Neuroectodermal Tumor OMIM:612219, OMIM:genemap2 updated neuroepithelioma NCIT:C3716 NCIT MONDO:0012817 Ewing sarcoma oio:hasExactSynonym oio:hasRelatedSynonym Ewing tumor NCIT:C4817 Ewing Sarcoma GARD:0006390 updated Ewing tumor NCIT:C4817 NCIT MONDO:0012825 extraskeletal myxoid chondrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym EMC NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612237 updated EMC NCIT:C27502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome oio:hasExactSynonym oio:hasRelatedSynonym CAN can CAN NCIT:C38145 Chronic Allograft Nephropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612247 updated CAN NCIT:C38145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0012897 congenital factor XI deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XI deficiency factor XI deficiency Factor XI Deficiency NCIT:C131739 Factor XI Deficiency OMIM:612416 updated factor XI deficiency NCIT:C131739 NCIT MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym Albright hereditary osteodystrophy without multiple hormone resistance Albright hereditary osteodystrophy without multiple hormone resistance Albright Hereditary Osteodystrophy without Multiple Hormone Resistance NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance OMIM:612463 updated Albright hereditary osteodystrophy without multiple hormone resistance NCIT:C129722 NCIT MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym oio:hasRelatedSynonym PPHP NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612463 updated PPHP NCIT:C129722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wagro syndrome Wagro syndrome WAGRO Syndrome NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome OMIM:612469 updated Wagro syndrome NCIT:C122804 NCIT @@ -61145,9 +59347,7 @@ MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:ha MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical updated MCAHS1 NCIT:C176896 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013565 Fanconi anemia complementation group G oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group G Fanconi anemia, complementation group G Fanconi Anemia, Complementation Group G NCIT:C125708 Fanconi Anemia, Complementation Group G OMIM:614082, MONDO:Lexical updated Fanconi anemia, complementation group G NCIT:C125708 NCIT MONDO:0013582 mosaic variegated aneuploidy syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 2 MOSAIC variegated aneuploidy syndrome 2 Mosaic Variegated Aneuploidy Syndrome 2 NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 OMIM:614114 updated MOSAIC variegated aneuploidy syndrome 2 NCIT:C168989 NCIT -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis NCIT:C34888 Palmoplantar Pustulosis OMIM:614204 updated palmoplantar pustulosis NCIT:C34888 NCIT MONDO:0013656 intellectual disability, autosomal dominant 9 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 9 mental retardation, autosomal dominant 9 Mental Retardation, Autosomal Dominant 9 NCIT:C133742 Mental Retardation, Autosomal Dominant 9 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:614255, MONDO:Lexical updated mental retardation, autosomal dominant 9 NCIT:C133742 NCIT -MONDO:0013662 Barrett esophagus oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of esophagus adenocarcinoma of esophagus Adenocarcinoma of Esophagus NCIT:C4025 Esophageal Adenocarcinoma OMIM:614266 updated adenocarcinoma of esophagus NCIT:C4025 NCIT MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic lipase deficiency pancreatic lipase deficiency Pancreatic Lipase Deficiency NCIT:C129030 Pancreatic Lipase Deficiency MONDO:Lexical, OMIM:614338 updated pancreatic lipase deficiency NCIT:C129030 NCIT MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym PNLIPD NCIT:C129030 Pancreatic Lipase Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614338, MONDO:Lexical updated PNLIPD NCIT:C129030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013779 Wiskott-Aldrich syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym WAS2 NCIT:C176820 Wiskott-Aldrich Syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614493, MONDO:Lexical updated WAS2 NCIT:C176820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61193,13 +59393,10 @@ MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXYY sy MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal Neuroendocrine Tumor NCIT:C135090 Jejunal Neuroendocrine Tumor Orphanet:100077 updated jejunal neuroendocrine tumor NCIT:C135090 NCIT MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal Neuroendocrine Tumor NCIT:C135092 Ileal Neuroendocrine Tumor Orphanet:100078 updated ileal neuroendocrine tumor NCIT:C135092 NCIT MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym colon neuroendocrine tumor colon neuroendocrine tumor Colon Neuroendocrine Tumor NCIT:C135212 Colon Neuroendocrine Tumor NCIT:C135212 updated colon neuroendocrine tumor NCIT:C135212 NCIT -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor oio:hasExactSynonym oio:hasBroadSynonym neuroendocrine neoplasm of the colon neuroendocrine neoplasm of the colon Neuroendocrine Neoplasm of the Colon NCIT:C5697 Colon Neuroendocrine Neoplasm Orphanet:100080 updated neuroendocrine neoplasm of the colon NCIT:C5697 NCIT -MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasBroadSynonym anal canal neuroendocrine neoplasm anal canal neuroendocrine neoplasm Anal Canal Neuroendocrine Neoplasm NCIT:C5603 Anal Canal Neuroendocrine Neoplasm MONDO:patterns/location updated anal canal neuroendocrine neoplasm NCIT:C5603 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the thyroid cancer of the thyroid Cancer of the Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 updated cancer of the thyroid NCIT:C4815 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of thyroid cancer of thyroid Cancer of Thyroid NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 updated cancer of thyroid NCIT:C4815 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid cancer thyroid cancer Thyroid Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 updated thyroid cancer NCIT:C4815 NCIT MONDO:0015075 thyroid gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland cancer thyroid gland cancer Thyroid Gland Cancer NCIT:C4815 Thyroid Gland Carcinoma NCIT:C4815 updated thyroid gland cancer NCIT:C4815 NCIT -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym oio:hasNarrowSynonym autoimmune primary adrenal insufficiency autoimmune primary adrenal insufficiency Autoimmune Primary Adrenal Insufficiency NCIT:C113814 Autoimmune Primary Adrenal Insufficiency NCIT:C113814 updated autoimmune primary adrenal insufficiency NCIT:C113814 NCIT MONDO:0015286 congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorders of glycosylation congenital disorders of glycosylation Congenital Disorders of Glycosylation NCIT:C84615 Carbohydrate-Deficient Glycoprotein Syndrome GARD:0010307 updated congenital disorders of glycosylation NCIT:C84615 NCIT MONDO:0015439 ring chromosome 4 oio:hasExactSynonym oio:hasRelatedSynonym R4 NCIT:C121983 ROSE Cluster 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001339 updated R4 NCIT:C121983 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015440 ring chromosome 6 oio:hasExactSynonym oio:hasRelatedSynonym R6 NCIT:C121985 ROSE Cluster 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006095 updated R6 NCIT:C121985 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61209,18 +59406,14 @@ MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the nasopharynx cancer of the nasopharynx Cancer of the Nasopharynx NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 updated cancer of the nasopharynx NCIT:C3871 NCIT MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal cancer nasopharyngeal cancer Nasopharyngeal Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 updated nasopharyngeal cancer NCIT:C3871 NCIT MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym nasopharyngeal throat cancer nasopharyngeal throat cancer Nasopharyngeal Throat Cancer NCIT:C3871 Nasopharyngeal Carcinoma NCIT:C3871 updated nasopharyngeal throat cancer NCIT:C3871 NCIT -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant nasopharyngeal tumor malignant nasopharyngeal tumor Malignant Nasopharyngeal Tumor NCIT:C9321 Malignant Nasopharyngeal Neoplasm NCIT:C9321, DOID:9261 updated malignant nasopharyngeal tumor NCIT:C9321 NCIT -MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx Malignant Neoplasm of Nasopharynx NCIT:C9321 Malignant Nasopharyngeal Neoplasm ICD9CM:147, DOID:9261, MTH:NOCODE updated malignant neoplasm of nasopharynx NCIT:C9321 NCIT MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired agammaglobulinemia acquired agammaglobulinemia Acquired Agammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency NCIT:C26725, DOID:12177 updated acquired agammaglobulinemia NCIT:C26725 NCIT MONDO:0015517 common variable immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired hypogammaglobulinemia acquired hypogammaglobulinemia Acquired Hypogammaglobulinemia NCIT:C26725 Common Variable Immunodeficiency DOID:12177 updated acquired hypogammaglobulinemia NCIT:C26725 NCIT MONDO:0015528 congenital epulis oio:hasExactSynonym oio:hasRelatedSynonym gingival granular cell tumor gingival granular cell tumor Gingival Granular Cell Tumor NCIT:C4675 Congenital Granular Cell Epulis NCIT:C4675 updated gingival granular cell tumor NCIT:C4675 NCIT MONDO:0015538 indeterminate dendritic cell tumor oio:hasExactSynonym oio:hasRelatedSynonym IDCT NCIT:C81767 Indeterminate Dendritic Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IDCT updated IDCT NCIT:C81767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic disorder hemophagocytic disorder Hemophagocytic Disorder NCIT:C34792 Hemophagocytic Lymphohistiocytosis NCIT:C34792 updated hemophagocytic disorder NCIT:C34792 NCIT -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis GARD:0006589 updated familial hemophagocytic lymphohistiocytosis NCIT:C61276 NCIT MONDO:0015589 paraneoplastic limbic encephalitis oio:hasExactSynonym oio:hasBroadSynonym limbic encephalitis limbic encephalitis Limbic Encephalitis NCIT:C4350 Limbic Encephalitis NCIT:C4350 updated limbic encephalitis NCIT:C4350 NCIT MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary motor and sensory neuropathy hereditary motor and sensory neuropathy Hereditary Motor and Sensory Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 updated hereditary motor and sensory neuropathy NCIT:C75467 NCIT MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasBroadSynonym hereditary sensorimotor neuropathy hereditary sensorimotor neuropathy Hereditary Sensorimotor Neuropathy NCIT:C75467 Charcot-Marie-Tooth Disease NCIT:C75467 updated hereditary sensorimotor neuropathy NCIT:C75467 NCIT -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute Myeloid Leukemia NCIT:C3171 Acute Myeloid Leukemia NCIT:C27753 updated acute myeloid leukemia NCIT:C3171 NCIT MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 Mosaicism NCIT:C116319 Trisomy 14 Mosaicism GARD:0001327 updated trisomy 14 mosaicism NCIT:C116319 NCIT MONDO:0015742 periventricular leukomalacia oio:hasExactSynonym oio:hasRelatedSynonym PVL NCIT:C99013 Periventricular Leukomalacia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010285 updated PVL NCIT:C99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015863 polyembryoma oio:hasExactSynonym oio:hasRelatedSynonym gonadal polyembryoma gonadal polyembryoma Gonadal Polyembryoma NCIT:C66776 Gonadal Polyembryoma GARD:0009621 updated gonadal polyembryoma NCIT:C66776 NCIT @@ -61228,11 +59421,6 @@ MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer o MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of vagina cancer of vagina Cancer of Vagina NCIT:C3917 Vaginal Carcinoma NCIT:C3917 updated cancer of vagina NCIT:C3917 NCIT MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vagina cancer vagina cancer Vagina Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 updated vagina cancer NCIT:C3917 NCIT MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal cancer vaginal cancer Vaginal Cancer NCIT:C3917 Vaginal Carcinoma NCIT:C3917 updated vaginal cancer NCIT:C3917 NCIT -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym cystosarcoma phyllodes cystosarcoma phyllodes Cystosarcoma Phyllodes NCIT:C2977 Phyllodes Tumor DOID:1631 updated cystosarcoma phyllodes NCIT:C2977 NCIT -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym phyllodes neoplasm phyllodes neoplasm Phyllodes Neoplasm NCIT:C2977 Phyllodes Tumor NCIT:C2977, DOID:1631 updated phyllodes neoplasm NCIT:C2977 NCIT -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasRelatedSynonym benign cystosarcoma phyllodes benign cystosarcoma phyllodes Benign Cystosarcoma Phyllodes NCIT:C4274 Benign Phyllodes Tumor DOID:1631 updated benign cystosarcoma phyllodes NCIT:C4274 NCIT -MONDO:0015871 benign breast phyllodes tumor oio:hasExactSynonym oio:hasBroadSynonym benign phyllodes neoplasm benign phyllodes neoplasm Benign Phyllodes Neoplasm NCIT:C4274 Benign Phyllodes Tumor DOID:1631, NCIT:C4274 updated benign phyllodes neoplasm NCIT:C4274 NCIT -MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Paget disease of the breast Paget Disease of the Breast NCIT:C47857 Breast Paget Disease Orphanet:180275 updated Paget disease of the breast NCIT:C47857 NCIT MONDO:0015998 isolated ectopia lentis oio:hasExactSynonym oio:hasRelatedSynonym congenital ectopic lens congenital ectopic lens Congenital Ectopic Lens NCIT:C34566 Congenital Ectopic Lens NCIT:C34566 updated congenital ectopic lens NCIT:C34566 NCIT MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400 updated Ehlers-Danlos syndrome, kyphoscoliotic type, 1 NCIT:C125700 NCIT MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VI Ehlers-Danlos Syndrome, Type VI NCIT:C125700 Ehlers-Danlos Syndrome, Type VI OMIM:225400, MONDO:Lexical, MESH:C536198 updated Ehlers-Danlos syndrome, type VI NCIT:C125700 NCIT @@ -61241,41 +59429,18 @@ MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0016008 fetal hydantoin syndrome oio:hasExactSynonym oio:hasRelatedSynonym phenytoin embryopathy phenytoin embryopathy Phenytoin Embryopathy NCIT:C98927 Fetal Hydantoin Syndrome GARD:0006435 updated phenytoin embryopathy NCIT:C98927 NCIT MONDO:0016012 diethylstilbestrol syndrome oio:hasExactSynonym oio:hasRelatedSynonym fetal diethylstilbestrol syndrome fetal diethylstilbestrol syndrome Fetal Diethylstilbestrol Syndrome NCIT:C113422 Diethylstilbestrol Syndrome GARD:0001859 updated fetal diethylstilbestrol syndrome NCIT:C113422 NCIT MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSynonym calcifying aponeurotic fibroma calcifying aponeurotic fibroma Calcifying Aponeurotic Fibroma NCIT:C4818 Calcifying Aponeurotic Fibroma Orphanet:199260 updated calcifying aponeurotic fibroma NCIT:C4818 NCIT -MONDO:0016063 Cowden disease oio:hasExactSynonym oio:hasRelatedSynonym dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of cerebellum Dysplastic Gangliocytoma of Cerebellum NCIT:C8419 Dysplastic Cerebellar Gangliocytoma DOID:6457, NCIT:C8419 updated dysplastic gangliocytoma of cerebellum NCIT:C8419 NCIT MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS NCIT:C84657 Cryopyrin-Associated Periodic Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 updated CAPS NCIT:C84657 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7956 updated hepatocellular cancer NCIT:C3099 NCIT -MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7955 Childhood Hepatocellular Carcinoma NCIT:C7956 updated hepatocellular cancer NCIT:C7955 NCIT MONDO:0016216 adult hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7956 updated hepatocellular cancer NCIT:C7956 NCIT MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym oio:hasRelatedSynonym KHE NCIT:C27510 Kaposiform Hemangioendothelioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003077 updated KHE NCIT:C27510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C7634 updated hemangiopericytoma NCIT:C3087 NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C7634 updated hemangiopericytoma NCIT:C50401 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C7634 updated hemangiopericytoma NCIT:C7634 NCIT -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasNarrowSynonym carcinosarcoma of the uterus carcinosarcoma of the uterus Carcinosarcoma of the Uterus NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180 updated carcinosarcoma of the uterus NCIT:C42700 NCIT -MONDO:0016259 carcinosarcoma of the corpus uteri oio:hasExactSynonym oio:hasBroadSynonym uterine carcinosarcoma uterine carcinosarcoma Uterine Carcinosarcoma NCIT:C42700 Uterine Carcinosarcoma NCIT:C9180, Orphanet:213610 updated uterine carcinosarcoma NCIT:C42700 NCIT MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C127167 Ovotesticular Differences of Sex Development Orphanet:2138 updated true hermaphroditism NCIT:C127167 NCIT -MONDO:0016281 46,XX ovotesticular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym true hermaphroditism true hermaphroditism True Hermaphroditism NCIT:C85207 True Hermaphroditism Orphanet:2138 updated true hermaphroditism NCIT:C85207 NCIT MONDO:0016356 diffuse cutaneous systemic sclerosis oio:hasExactSynonym oio:hasRelatedSynonym DcSSc DcSSc dcSSc NCIT:C116791 Diffuse Cutaneous Systemic Sclerosis GARD:0009751 updated DcSSc NCIT:C116791 NCIT -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult Dermatomyositis NCIT:C27313 Adult Dermatomyositis Orphanet:221, GARD:0006263 updated adult dermatomyositis NCIT:C27313 NCIT MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym oio:hasBroadSynonym hypogammaglobulinemia hypogammaglobulinemia Hypogammaglobulinemia NCIT:C26931 Hypogammaglobulinemia NCIT:C26931 updated hypogammaglobulinemia NCIT:C26931 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasBroadSynonym Mast cell disease Mast cell disease Mast Cell Disease NCIT:C84269 Mastocytosis Orphanet:2467 updated Mast cell disease NCIT:C84269 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Aggressive systemic mastocytosis Aggressive Systemic Mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 updated Aggressive systemic mastocytosis NCIT:C9285 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis NCIT:C9285 Aggressive Systemic Mastocytosis GARD:0008616 updated Aggressive systemic mastocytosis NCIT:C9285 NCIT -MONDO:0016642 meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningeal neoplasm meningeal neoplasm Meningeal Neoplasm NCIT:C3229 Meningeal Neoplasm DOID:3565 updated meningeal neoplasm NCIT:C3229 NCIT MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym R5 NCIT:C121984 ROSE Cluster 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010841 updated R5 NCIT:C121984 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016668 sickle cell-beta-thalassemia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym sickle beta thalassemia sickle beta thalassemia Sickle Beta Thalassemia NCIT:C95539 Sickle Beta Thalassemia GARD:0010333 updated sickle beta thalassemia NCIT:C95539 NCIT -MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-Grade Astrocytoma NCIT:C9477 Anaplastic Astrocytoma Orphanet:251561 updated high-grade astrocytoma NCIT:C9477 NCIT -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial neoplasm oligodendroglial neoplasm Oligodendroglial Neoplasm NCIT:C6960 Oligodendroglial Tumor DOID:3181 updated oligodendroglial neoplasm NCIT:C6960 NCIT -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial Tumor NCIT:C6960 Oligodendroglial Tumor DOID:3181, NCIT:C6960 updated oligodendroglial tumor NCIT:C6960 NCIT MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal neoplasm WHO grade II ependymal neoplasm WHO Grade II Ependymal Neoplasm NCIT:C3017 Ependymoma NCIT:C3017 updated WHO grade II ependymal neoplasm NCIT:C3017 NCIT MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym WHO grade II ependymal tumor WHO grade II ependymal tumor WHO Grade II Ependymal Tumor NCIT:C3017 Ependymoma DOID:4844, NCIT:C3017 updated WHO grade II ependymal tumor NCIT:C3017 NCIT -MONDO:0016698 ependymoma oio:hasExactSynonym oio:hasNarrowSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma MONDO:patterns/benign updated ependymoma, benign NCIT:C3697 NCIT -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 updated CNS PNET NCIT:C5398 NCIT -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasBroadSynonym central nervous system PNET central nervous system PNET Central Nervous System PNET NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 updated central nervous system PNET NCIT:C5398 NCIT -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central Nervous System Primitive Neuroectodermal Tumor NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified Orphanet:251870 updated central nervous system primitive neuroectodermal tumor NCIT:C5398 NCIT MONDO:0016715 ependymoblastoma oio:hasExactSynonym oio:hasRelatedSynonym embryonal tumor with abundant neuropil and true rosettes embryonal tumor with abundant neuropil and true rosettes Embryonal Tumor with Abundant Neuropil and True Rosettes NCIT:C4915 Embryonal Tumor with Multilayered Rosettes, C19MC-Altered GARD:0006352 updated embryonal tumor with abundant neuropil and true rosettes NCIT:C4915 NCIT -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of choroid plexus malignant neoplasm of choroid plexus Malignant Neoplasm of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 updated malignant neoplasm of choroid plexus NCIT:C4533 NCIT -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant neoplasm of the choroid plexus malignant neoplasm of the choroid plexus Malignant Neoplasm of the Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm NCIT:C4533, DOID:5648 updated malignant neoplasm of the choroid plexus NCIT:C4533 NCIT -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym malignant tumor of choroid plexus malignant tumor of choroid plexus Malignant Tumor of Choroid Plexus NCIT:C4533 Malignant Choroid Plexus Neoplasm DOID:5648 updated malignant tumor of choroid plexus NCIT:C4533 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of choroid plexus cancer of choroid plexus Cancer of Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715, DOID:5648 updated cancer of choroid plexus NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the choroid plexus cancer of the choroid plexus Cancer of the Choroid Plexus NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 updated cancer of the choroid plexus NCIT:C4715 NCIT MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym oio:hasBroadSynonym choroid plexus cancer choroid plexus cancer Choroid Plexus Cancer NCIT:C4715 Choroid Plexus Carcinoma NCIT:C4715 updated choroid plexus cancer NCIT:C4715 NCIT @@ -61283,22 +59448,15 @@ MONDO:0016787 epithelioid trophoblastic tumor oio:hasExactSynonym oio:hasRelated MONDO:0016985 nevus of Ito oio:hasExactSynonym oio:hasRelatedSynonym hypomelanosis of Ito hypomelanosis of Ito Hypomelanosis of Ito NCIT:C7582 Nevus of Ito NCIT:C7582 updated hypomelanosis of Ito NCIT:C7582 NCIT MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired factor II deficiency acquired factor II deficiency Acquired Factor II Deficiency NCIT:C131622 Acquired Factor II Deficiency GARD:0000475 updated acquired factor II deficiency NCIT:C131622 NCIT MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114483 updated Langerhans cell histiocytosis NCIT:C114483 NCIT -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114483 updated Langerhans cell histiocytosis NCIT:C114929 NCIT -MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114483 updated Langerhans cell histiocytosis NCIT:C3107 NCIT -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis NCIT:C114929 updated Langerhans cell histiocytosis NCIT:C114483 NCIT MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis NCIT:C114929 updated Langerhans cell histiocytosis NCIT:C114929 NCIT -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C3107 Langerhans Cell Histiocytosis NCIT:C114929 updated Langerhans cell histiocytosis NCIT:C3107 NCIT -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 updated mesoblastic nephroma NCIT:C6569 NCIT MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 updated mesoblastic nephroma NCIT:C6569 NCIT +MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma NCIT:C6569 updated mesoblastic nephroma NCIT:C6569 NCIT MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele NCIT:C101201 Myelomeningocele NCIT:C101201 updated myelomeningocele NCIT:C101201 NCIT MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele CRANIAL MENINGOCELE NCIT:C124517 Cranial Meningocele Orphanet:268820 updated cranial meningocele NCIT:C124517 NCIT MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial Meningocele NCIT:C124517 Cranial Meningocele Orphanet:268820 updated cranial meningocele NCIT:C124517 NCIT MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym River blindness River blindness River Blindness NCIT:C34861 Onchocerciasis GARD:0007252 updated River blindness NCIT:C34861 NCIT MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym oio:hasBroadSynonym hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia Hyperinsulinemic Hypoglycemia NCIT:C131425 Congenital Hyperinsulinism NCIT:C131425 updated hyperinsulinemic hypoglycemia NCIT:C131425 NCIT -MONDO:0017236 rapidly progressive glomerulonephritis oio:hasExactSynonym oio:hasRelatedSynonym crescentic glomerulonephritis crescentic glomerulonephritis Crescentic Glomerulonephritis NCIT:C35444 Crescentic Glomerulonephritis Orphanet:280569 updated crescentic glomerulonephritis NCIT:C35444 NCIT -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C3087 Hemangiopericytoma NCIT:C50401 updated hemangiopericytoma NCIT:C3087 NCIT MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C50401 Myopericytoma NCIT:C50401 updated hemangiopericytoma NCIT:C50401 NCIT -MONDO:0017349 myopericytoma oio:hasExactSynonym oio:hasRelatedSynonym hemangiopericytoma hemangiopericytoma Hemangiopericytoma NCIT:C7634 Solitary Fibrous Tumor NCIT:C50401 updated hemangiopericytoma NCIT:C7634 NCIT MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 updated MPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017419 non-syndromic amelia oio:hasExactSynonym oio:hasBroadSynonym amelia amelia Amelia NCIT:C34370 Amelia MONDO:ambiguous updated amelia NCIT:C34370 NCIT MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of pituitary cancer of pituitary Cancer of Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 updated cancer of pituitary NCIT:C4536 NCIT @@ -61306,19 +59464,11 @@ MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym c MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary cancer of the pituitary Cancer of the Pituitary NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 updated cancer of the pituitary NCIT:C4536 NCIT MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the pituitary gland cancer of the pituitary gland Cancer of the Pituitary Gland NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 updated cancer of the pituitary gland NCIT:C4536 NCIT MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym pituitary gland cancer pituitary gland cancer Pituitary Gland Cancer NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor NCIT:C4536 updated pituitary gland cancer NCIT:C4536 NCIT -MONDO:0017767 rheumatic fever oio:hasExactSynonym oio:hasRelatedSynonym inflammatory rheumatism inflammatory rheumatism Inflammatory Rheumatism NCIT:C27204 Rheumatologic Disorder GARD:0005699 updated inflammatory rheumatism NCIT:C27204 NCIT MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease Whitmore disease Whitmore Disease NCIT:C128336 Melioidosis GARD:0009546 updated Whitmore disease NCIT:C128336 NCIT -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid odontogenic tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 updated adenomatoid odontogenic tumor NCIT:C4310 NCIT -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adenomatoid odontogenic tumor adenomatoid odontogenic tumor Adenomatoid Odontogenic Tumor NCIT:C4310 Adenomatoid Odontogenic Tumor GARD:0005747 updated adenomatoid odontogenic tumor NCIT:C4310 NCIT -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym AOT aot AOT NCIT:C4310 Adenomatoid Odontogenic Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005747 updated AOT NCIT:C4310 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma updated adamantinoma NCIT:C7644 NCIT MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma NCIT:C3798 Malignant Peripheral Nerve Sheath Tumor NCIT:C3798, Orphanet:3148 updated neurofibrosarcoma NCIT:C3798 NCIT -MONDO:0017844 Sezary syndrome oio:hasExactSynonym oio:hasRelatedSynonym SS NCIT:C3400 Synovial Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:SS updated SS NCIT:C3400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia Variabilis et Progressiva NCIT:C84696 Erythrokeratodermia Variabilis OMIM:133200, MONDO:Lexical updated erythrokeratodermia variabilis ET progressiva NCIT:C84696 NCIT MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease pulseless disease Pulseless Disease NCIT:C35062 Takayasu Arteritis OMIM:207600 updated pulseless disease NCIT:C35062 NCIT -MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym TA NCIT:C4487 Tufted Angioma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007730 updated TA NCIT:C4487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018029 congenital factor XIII deficiency oio:hasExactSynonym oio:hasRelatedSynonym factor XIII deficiency factor XIII deficiency Factor XIII Deficiency NCIT:C131633 Factor XIII Deficiency DOID:2211 updated factor XIII deficiency NCIT:C131633 NCIT -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C3099 Hepatocellular Carcinoma NCIT:C7955 updated hepatocellular cancer NCIT:C3099 NCIT MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood carcinoma of liver cell childhood carcinoma of liver cell Childhood Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated childhood carcinoma of liver cell NCIT:C7955 NCIT MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood hepatoma childhood hepatoma Childhood Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated childhood hepatoma NCIT:C7955 NCIT MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym childhood liver cell carcinoma childhood liver cell carcinoma Childhood Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated childhood liver cell carcinoma NCIT:C7955 NCIT @@ -61326,25 +59476,16 @@ MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric carcinoma of liver cell pediatric carcinoma of liver cell Pediatric Carcinoma of Liver Cell NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated pediatric carcinoma of liver cell NCIT:C7955 NCIT MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric hepatoma pediatric hepatoma Pediatric Hepatoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated pediatric hepatoma NCIT:C7955 NCIT MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pediatric liver cell carcinoma pediatric liver cell carcinoma Pediatric Liver Cell Carcinoma NCIT:C7955 Childhood Hepatocellular Carcinoma GARD:0009331 updated pediatric liver cell carcinoma NCIT:C7955 NCIT -MONDO:0018055 pediatric hepatocellular carcinoma oio:hasExactSynonym oio:hasBroadSynonym hepatocellular cancer hepatocellular cancer Hepatocellular Cancer NCIT:C7956 Adult Hepatocellular Carcinoma NCIT:C7955 updated hepatocellular cancer NCIT:C7956 NCIT MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploid syndrome triploid syndrome Triploid Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 updated triploid syndrome NCIT:C85204 NCIT MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy syndrome triploidy syndrome Triploidy Syndrome NCIT:C85204 Triploidy Syndrome GARD:0005295 updated triploidy syndrome NCIT:C85204 NCIT MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasNarrowSynonym active tuberculosis active tuberculosis Active Tuberculosis NCIT:C3423 Tuberculosis NCIT:C3423 updated active tuberculosis NCIT:C3423 NCIT MONDO:0018076 tuberculosis oio:hasExactSynonym oio:hasRelatedSynonym TB NCIT:C3423 Tuberculosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007827 updated TB NCIT:C3423 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malignant soft tissue tumor malignant soft tissue tumor Malignant Soft Tissue Tumor NCIT:C4867 Malignant Soft Tissue Neoplasm Orphanet:3394 updated malignant soft tissue tumor NCIT:C4867 NCIT -MONDO:0018087 viral hemorrhagic fever oio:hasExactSynonym oio:hasBroadSynonym hemorrhagic fever hemorrhagic fever Hemorrhagic Fever NCIT:C36169 Hemorrhagic Fever ORCID:0000-0002-6315-0263, https://medlineplus.gov/hemorrhagicfevers.html updated hemorrhagic fever NCIT:C36169 NCIT MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym oio:hasRelatedSynonym Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome GARD:0007862 updated Vogt-Koyanagi-Harada syndrome NCIT:C85218 NCIT MONDO:0018153 Erdheim-Chester disease oio:hasExactSynonym oio:hasRelatedSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:ECD updated ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym oio:hasBroadSynonym EBV-positive T-cell lymphoproliferative disorder of childhood EBV-positive T-cell lymphoproliferative disorder of childhood EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood NCIT:C80373 EBV-Positive T-Cell/NK-Cell Lymphoproliferative Disorder of Childhood DOID:0070324 updated EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80373 NCIT -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema Multiforme Major NCIT:C3385 Erythema Multiforme Major NCIT:C79484 updated erythema multiforme major NCIT:C3385 NCIT MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH NCIT:C3107 Langerhans Cell Histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 updated LCH NCIT:C3107 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym oio:hasRelatedSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma ONCOTREE:OIMT updated immature teratoma NCIT:C4286 NCIT -MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-Pancreatic Cancer Syndrome NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome Orphanet:404560 updated melanoma-pancreatic cancer syndrome NCIT:C176904 NCIT MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenal hyperplasia adrenal hyperplasia Adrenal Hyperplasia NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 updated adrenal hyperplasia NCIT:C34360 NCIT MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital disorder adrenogenital disorder Adrenogenital Disorder NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 updated adrenogenital disorder NCIT:C34360 NCIT MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital Syndrome NCIT:C34360 Congenital Adrenal Hyperplasia NCIT:C34360 updated adrenogenital syndrome NCIT:C34360 NCIT -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystic neoplasm pancreatic mucinous cystic neoplasm Pancreatic Mucinous Cystic Neoplasm NCIT:C41247 Pancreatic Mucinous-Cystic Neoplasm DOID:7235 updated pancreatic mucinous cystic neoplasm NCIT:C41247 NCIT -MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic Mucinous Cystadenocarcinoma NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma Orphanet:424053 updated pancreatic mucinous cystadenocarcinoma NCIT:C5713 NCIT MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of pancreas colloid cystadenoma of pancreas Colloid Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated colloid cystadenoma of pancreas NCIT:C5718 NCIT MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid cystadenoma of the pancreas colloid cystadenoma of the pancreas Colloid Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated colloid cystadenoma of the pancreas NCIT:C5718 NCIT MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym colloidal cystadenoma of pancreas colloidal cystadenoma of pancreas Colloidal Cystadenoma of Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated colloidal cystadenoma of pancreas NCIT:C5718 NCIT @@ -61352,7 +59493,6 @@ MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelated MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenoma of the pancreas mucinous cystadenoma of the pancreas Mucinous Cystadenoma of the Pancreas NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated mucinous cystadenoma of the pancreas NCIT:C5718 NCIT MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloid cystadenoma pancreatic colloid cystadenoma Pancreatic Colloid Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated pancreatic colloid cystadenoma NCIT:C5718 NCIT MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colloidal cystadenoma pancreatic colloidal cystadenoma Pancreatic Colloidal Cystadenoma NCIT:C5718 Pancreatic Mucinous Cystadenoma NCIT:C5718 updated pancreatic colloidal cystadenoma NCIT:C5718 NCIT -MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid Pseudopapillary Neoplasm of the Pancreas NCIT:C37212 Solid Pseudopapillary Neoplasm of the Pancreas Orphanet:424065 updated solid pseudopapillary neoplasm of the pancreas NCIT:C37212 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver cancer of liver Cancer of Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 updated cancer of liver NCIT:C7927 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of liver and intrahepatic biliary tract cancer of liver and intrahepatic biliary tract Cancer of Liver and Intrahepatic Biliary Tract NCIT:C7927 Liver Carcinoma NCIT:C7927 updated cancer of liver and intrahepatic biliary tract NCIT:C7927 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym cancer of the liver cancer of the liver Cancer of the Liver NCIT:C7927 Liver Carcinoma NCIT:C7927 updated cancer of the liver NCIT:C7927 NCIT @@ -61361,43 +59501,20 @@ MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSyno MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver cancer liver cancer Liver Cancer NCIT:C7927 Liver Carcinoma NCIT:C7927 updated liver cancer NCIT:C7927 NCIT MONDO:0018531 carcinoma of liver and intrahepatic biliary tract oio:hasExactSynonym oio:hasBroadSynonym liver carcinoma liver carcinoma Liver Carcinoma NCIT:C7927 Liver Carcinoma ORCID:0000-0002-6601-2165 updated liver carcinoma NCIT:C7927 NCIT MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome NCIT:C116917 updated Marshall syndrome NCIT:C116917 NCIT -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Marshall syndrome Marshall Syndrome NCIT:C128115 Marshall Syndrome NCIT:C116917 updated Marshall syndrome NCIT:C128115 NCIT -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym diffuse sclerosis diffuse sclerosis Diffuse Sclerosis NCIT:C72070 Systemic Scleroderma DOID:10588 updated diffuse sclerosis NCIT:C72070 NCIT -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasRelatedSynonym hypogonadotropism hypogonadotropism Hypogonadotropism NCIT:C9227 Hypogonadism MONDO:0004228 updated hypogonadotropism NCIT:C9227 NCIT MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis familial amyloidosis Familial Amyloidosis NCIT:C84555 Familial Amyloidosis GARD:0006611 updated familial amyloidosis NCIT:C84555 NCIT MONDO:0018715 congenital hemangioma oio:hasExactSynonym oio:hasRelatedSynonym congenital angioma congenital angioma Congenital Angioma NCIT:C3841 Congenital Hemangioma NCIT:C3841 updated congenital angioma NCIT:C3841 NCIT MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym benign mucous membrane pemphigoid benign mucous membrane pemphigoid Benign Mucous Membrane Pemphigoid NCIT:C34907 Benign Mucous Membrane Pemphigoid DOID:11656, GARD:0005913 updated benign mucous membrane pemphigoid NCIT:C34907 NCIT MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating Thoracic Dystrophy NCIT:C84794 Jeune Syndrome DOID:0050592 updated asphyxiating thoracic dystrophy NCIT:C84794 NCIT -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid Hyperplasia with Eosinophilia NCIT:C4298 Epithelioid Hemangioma GARD:0006835 updated angiolymphoid hyperplasia with eosinophilia NCIT:C4298 NCIT -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma ONCOTREE:BEC updated embryonal carcinoma NCIT:C3752 NCIT MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Lawrence-Seip syndrome Lawrence-Seip Syndrome NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 updated Lawrence-Seip syndrome NCIT:C84594 NCIT MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital Generalized Lipodystrophy NCIT:C84594 Berardinelli-Seip Congenital Lipodystrophy NCIT:C84594 updated congenital generalized lipodystrophy NCIT:C84594 NCIT MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma NCIT:C2964 updated cystoma NCIT:C2964 NCIT -MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2972 Cystadenoma NCIT:C2964 updated cystoma NCIT:C2972 NCIT MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism NCIT:C2969 Cushing Syndrome Orphanet:553 updated hypercortisolism NCIT:C2969 NCIT -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic Fibrous Dysplasia NCIT:C34610 Polyostotic Fibrous Dysplasia DOID:1858, OMIM:174800 updated polyostotic fibrous dysplasia NCIT:C34610 NCIT -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis Type IIIA NCIT:C84897 Mucopolysaccharidosis Type IIIA DOID:12801 updated mucopolysaccharidosis type IIIA NCIT:C84897 NCIT -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis Type IIIB NCIT:C84898 Mucopolysaccharidosis Type IIIB DOID:12801 updated mucopolysaccharidosis type IIIB NCIT:C84898 NCIT -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis Type IVA NCIT:C84901 Mucopolysaccharidosis Type IVA DOID:12804 updated mucopolysaccharidosis type IVA NCIT:C84901 NCIT -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis Type IVB NCIT:C84902 Mucopolysaccharidosis Type IVB DOID:12804 updated mucopolysaccharidosis type IVB NCIT:C84902 NCIT -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform Mole NCIT:C3110 Hydatidiform Mole DOID:3590 updated hydatidiform mole NCIT:C3110 NCIT -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar Pregnancy NCIT:C3110 Hydatidiform Mole NCIT:C3110, DOID:3590 updated molar pregnancy NCIT:C3110 NCIT -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans NCIT:C122789 Myotonia Fluctuans OMIM:608390 updated Myotonia Fluctuans NCIT:C122789 NCIT MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis NCIT:C34842 Alport Syndrome NCIT:C34842, DOID:10983 updated hereditary nephritis NCIT:C34842 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 updated Von Recklinghausen disease NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease Von Recklinghausen Disease NCIT:C3273 Neurofibromatosis Type 1 Orphanet:636, NCIT:C3273, OMIM:162200 updated Von Recklinghausen disease NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 updated neurofibromatosis NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis Type 1 Microdeletion Syndrome NCIT:C3273 Neurofibromatosis Type 1 NCIT:C3273 updated neurofibromatosis type 1 microdeletion syndrome NCIT:C3273 NCIT -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C6727 Neurofibromatosis NCIT:C3273 updated neurofibromatosis NCIT:C6727 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor Orphanet:654 updated Wilms tumor NCIT:C27730 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym childhood renal Wilms tumor childhood renal Wilms tumor Childhood Renal Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor DOID:2154 updated childhood renal Wilms tumor NCIT:C27730 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor Orphanet:654 updated Wilms tumor NCIT:C3267 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor Orphanet:654 updated Wilms tumor NCIT:C3267 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor NCIT:C40407 updated Wilms' tumor NCIT:C3267 NCIT MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym embryonal nephroma embryonal nephroma Embryonal Nephroma NCIT:C40407 Kidney Wilms Tumor NCIT:C40407 updated embryonal nephroma NCIT:C40407 NCIT -MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym nonanaplastic renal Wilm's tumor nonanaplastic renal Wilm's tumor Nonanaplastic Renal Wilm's Tumor NCIT:C6951 Nonanaplastic Kidney Wilms Tumor DOID:5176 updated nonanaplastic renal Wilm's tumor NCIT:C6951 NCIT -MONDO:0019010 congenital isolated hyperinsulinism oio:hasExactSynonym oio:hasRelatedSynonym congenital hyperinsulinism congenital hyperinsulinism Congenital Hyperinsulinism NCIT:C131425 Congenital Hyperinsulinism GARD:0003947 updated congenital hyperinsulinism NCIT:C131425 NCIT -MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C84725 Gastroschisis NCIT:C98997 updated eventration NCIT:C84725 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym oio:hasBroadSynonym eventration eventration Eventration NCIT:C98997 Omphalocele NCIT:C98997 updated eventration NCIT:C98997 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym broken-heart syndrome broken-heart syndrome Broken-heart Syndrome NCIT:C85181 Takotsubo Cardiomyopathy GARD:0009400 updated broken-heart syndrome NCIT:C85181 NCIT MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym malignant osteopetrosis malignant osteopetrosis Malignant Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis NCIT:C129733 updated malignant osteopetrosis NCIT:C129733 NCIT @@ -61406,49 +59523,34 @@ MONDO:0019050 inherited hemoglobinopathy oio:hasExactSynonym oio:hasRelatedSynon MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of esophagus cancer of esophagus Cancer of Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513, DOID:1107 updated cancer of esophagus NCIT:C3513 NCIT MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym cancer of the esophagus cancer of the esophagus Cancer of the Esophagus NCIT:C3513 Esophageal Carcinoma NCIT:C3513 updated cancer of the esophagus NCIT:C3513 NCIT MONDO:0019086 carcinoma of esophagus oio:hasExactSynonym oio:hasNarrowSynonym esophageal cancer esophageal cancer Esophageal Cancer NCIT:C3513 Esophageal Carcinoma NCIT:C3513 updated esophageal cancer NCIT:C3513 NCIT -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile Duct Cancer NCIT:C27814 Bile Duct Carcinoma Orphanet:70567 updated bile duct cancer NCIT:C27814 NCIT -MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C35417 Intrahepatic Cholangiocarcinoma NCIT:C4436 updated intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C35417 NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct cancer (cholangiocarcinoma) Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C4436 Cholangiocarcinoma NCIT:C4436 updated intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C4436 NCIT -MONDO:0019095 plague oio:hasExactSynonym oio:hasBroadSynonym Yersiniosis NCIT:C128337 Yersiniosis Orphanet:707 updated Yersiniosis NCIT:C128337 NCIT MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome Devic syndrome Devic Syndrome NCIT:C84934 Neuromyelitis Optica GARD:0006267 updated Devic syndrome NCIT:C84934 NCIT MONDO:0019104 Sandifer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sandifer's syndrome Sandifer's syndrome Sandifer's Syndrome NCIT:C113397 Sandifer's Syndrome GARD:0009684 updated Sandifer's syndrome NCIT:C113397 NCIT -MONDO:0019134 central neurocytoma oio:hasExactSynonym oio:hasRelatedSynonym CNC NCIT:C4705 Carney Complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:CNC updated CNC NCIT:C4705 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal Acid Lipase Deficiency NCIT:C61271 Wolman Disease NCIT:C61271 updated lysosomal acid lipase deficiency NCIT:C61271 NCIT -MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS NCIT:C4123 Adenocarcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical updated AIS NCIT:C4123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym pseudohypoaldosteronism type I autosomal recessive pseudohypoaldosteronism type I autosomal recessive Pseudohypoaldosteronism Type I Autosomal Recessive NCIT:C123251 Pseudohypoaldosteronism Type 1 NCIT:C123251 updated pseudohypoaldosteronism type I autosomal recessive NCIT:C123251 NCIT MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym oio:hasNarrowSynonym PHA1B NCIT:C123251 Pseudohypoaldosteronism Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C123251 updated PHA1B NCIT:C123251 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome Gordon Syndrome NCIT:C123252 Pseudohypoaldosteronism Type 2 NCIT:C123252 updated Gordon syndrome NCIT:C123252 NCIT MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder Zellweger spectrum disorder Zellweger Spectrum Disorder NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder updated Zellweger spectrum disorder NCIT:C146639 NCIT MONDO:0019402 beta thalassemia oio:hasExactSynonym oio:hasRelatedSynonym thalassemia major thalassemia major Thalassemia Major NCIT:C34375 Beta Thalassemia NCIT:C34375 updated thalassemia major NCIT:C34375 NCIT -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 updated soft tissue perineurioma NCIT:C6912 NCIT -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma NCIT:C6912, DOID:4697 updated soft tissue perineurioma NCIT:C6912 NCIT MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic juvenile idiopathic arthritis systemic juvenile idiopathic arthritis Systemic Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 updated systemic juvenile idiopathic arthritis NCIT:C119031 NCIT MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym systemic onset juvenile idiopathic arthritis systemic onset juvenile idiopathic arthritis Systemic Onset Juvenile Idiopathic Arthritis NCIT:C119031 Systemic Juvenile Idiopathic Arthritis GARD:0010966 updated systemic onset juvenile idiopathic arthritis NCIT:C119031 NCIT MONDO:0019437 enthesitis-related juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSynonym enthesitis-related arthritis enthesitis-related arthritis Enthesitis-Related Arthritis NCIT:C119024 Enthesitis-Related Arthritis GARD:0010969 updated enthesitis-related arthritis NCIT:C119024 NCIT -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary Systemic Amyloidosis NCIT:C8299 Primary Systemic Amyloidosis GARD:0005797 updated primary systemic amyloidosis NCIT:C8299 NCIT -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed Phenotype Acute Leukemia NCIT:C82179 Mixed Phenotype Acute Leukemia Orphanet:86851 updated mixed phenotype acute leukemia NCIT:C82179 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 updated HTLV-1 associated adult T-cell lymphoma/leukemia NCIT:C3184 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I associated adult T-cell leukemia/lymphoma HTLV-I Associated Adult T-Cell Leukemia/Lymphoma NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 updated HTLV-I associated adult T-cell leukemia/lymphoma NCIT:C3184 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T cell lymphoma/leukemia adult T cell lymphoma/leukemia Adult T Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 updated adult T cell lymphoma/leukemia NCIT:C3184 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-cell lymphoma/leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 updated adult T-cell lymphoma/leukemia NCIT:C3184 NCIT MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym oio:hasRelatedSynonym adult T-cell lymphoma/leukemia adult T-cell lymphoma/leukemia Adult T-Cell Lymphoma/Leukemia NCIT:C3184 Adult T-Cell Leukemia/Lymphoma NCIT:C3184 updated adult T-cell lymphoma/leukemia NCIT:C3184 NCIT -MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7258 Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 updated nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7258 NCIT MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExactSynonym oio:hasBroadSynonym nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma NCIT:C7942 Adult Nodular Lymphocyte Predominant B-Cell Lymphoma NCIT:C7942 updated nodular lymphocyte predominant Hodgkin lymphoma NCIT:C7942 NCIT -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym LCS NCIT:C35709 Aagenaes Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LCS updated LCS NCIT:C35709 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C26900 Turner Syndrome DOID:3491 updated Bonnevie-Ullrich syndrome NCIT:C26900 NCIT MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ullrich-Turner syndrome Ullrich-Turner syndrome Ullrich-Turner Syndrome NCIT:C26900 Turner Syndrome GARD:0007831 updated Ullrich-Turner syndrome NCIT:C26900 NCIT MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C26900 Turner Syndrome NCIT:C26900 updated gonadal dysgenesis NCIT:C26900 NCIT MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X NCIT:C26900 Turner Syndrome DOID:3491, NCIT:C36630 updated monosomy X NCIT:C26900 NCIT -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome Bonnevie-Ullrich Syndrome NCIT:C34434 Bonnevie-Ullrich Syndrome DOID:3491 updated Bonnevie-Ullrich syndrome NCIT:C34434 NCIT -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasBroadSynonym gonadal dysgenesis gonadal dysgenesis Gonadal Dysgenesis NCIT:C61420 Gonadal Dysgenesis NCIT:C26900 updated gonadal dysgenesis NCIT:C61420 NCIT MONDO:0019530 non-syndromic syndactyly oio:hasExactSynonym oio:hasRelatedSynonym syndactyly syndactyly Syndactyly NCIT:C87125 Syndactyly MONDO:ambiguous updated syndactyly NCIT:C87125 NCIT MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym oio:hasRelatedSynonym warm antibody autoimmune hemolytic anemia warm antibody autoimmune hemolytic anemia Warm Antibody Autoimmune Hemolytic Anemia NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia GARD:0007876 updated warm antibody autoimmune hemolytic anemia NCIT:C162611 NCIT MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid Lupus Erythematosus NCIT:C117112 Lupus Erythematosus Tumidus GARD:0013003 updated tumid lupus erythematosus NCIT:C117112 NCIT MONDO:0019563 CREST syndrome oio:hasExactSynonym oio:hasBroadSynonym lcSSc NCIT:C70646 CREST Syndrome NCIT:C70646 updated lcSSc NCIT:C70646 NCIT MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Ii Ehlers-Danlos syndrome, type Ii Ehlers-Danlos Syndrome, Type II NCIT:C125697 Ehlers-Danlos Syndrome, Type II OMIM:130010 updated Ehlers-Danlos syndrome, type Ii NCIT:C125697 NCIT MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Cockayne syndrome type A Cockayne syndrome type A Cockayne Syndrome Type A NCIT:C135725 Cockayne Syndrome Type A GARD:0001415 updated Cockayne syndrome type A NCIT:C135725 NCIT -MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor Orphanet:913 updated gastrinoma NCIT:C3050 NCIT -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP NCIT:C78797 Thrombotic Thrombocytopenic Purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 updated TTP NCIT:C78797 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Unicentric Castleman disease Unicentric Castleman Disease NCIT:C115200 Unicentric Castleman Disease GARD:0006005 updated Unicentric Castleman disease NCIT:C115200 NCIT MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym oio:hasRelatedSynonym TTTS NCIT:C113824 Twin-Twin Transfusion Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000325 updated TTTS NCIT:C113824 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome Lyell Syndrome NCIT:C79777 Toxic Epidermal Necrolysis NCIT:C79777 updated Lyell syndrome NCIT:C79777 NCIT @@ -61456,21 +59558,15 @@ MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynony MONDO:0019903 ring chromosome 2 oio:hasExactSynonym oio:hasRelatedSynonym R2 NCIT:C121981 ROSE Cluster 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010837 updated R2 NCIT:C121981 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019904 ring chromosome 3 oio:hasExactSynonym oio:hasRelatedSynonym R3 NCIT:C121982 ROSE Cluster 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0010839 updated R3 NCIT:C121982 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019928 48,XXXY syndrome oio:hasExactSynonym oio:hasRelatedSynonym XXXY syndrome XXXY syndrome XXXY Syndrome NCIT:C89799 XXXY Syndrome GARD:0005676 updated XXXY syndrome NCIT:C89799 NCIT -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome WDHA syndrome WDHA Syndrome NCIT:C3488 WDHA Syndrome Orphanet:97282 updated WDHA syndrome NCIT:C3488 NCIT -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic cholera pancreatic cholera Pancreatic Cholera NCIT:C3488 WDHA Syndrome GARD:0003787, Orphanet:97282 updated pancreatic cholera NCIT:C3488 NCIT -MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym watery diarrhea, hypokalemia, and achlorhydria syndrome watery diarrhea, hypokalemia, and achlorhydria syndrome Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome NCIT:C3488 WDHA Syndrome GARD:0003787 updated watery diarrhea, hypokalemia, and achlorhydria syndrome NCIT:C3488 NCIT -MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym CMPD, U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified NCIT:C27350, DOID:2226 updated CMPD, U NCIT:C27350 NCIT MONDO:0020076 myeloproliferative neoplasm oio:hasExactSynonym oio:hasRelatedSynonym chronic myeloproliferative disorders chronic myeloproliferative disorders Chronic Myeloproliferative Disorders NCIT:C4345 Myeloproliferative Neoplasm GARD:0009319 updated chronic myeloproliferative disorders NCIT:C4345 NCIT MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AV septal defect AV septal defect AV Septal Defect NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 updated AV septal defect NCIT:C101029 NCIT MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular Septal Defect NCIT:C101029 Atrioventricular Septal Defect Orphanet:98722 updated atrioventricular septal defect NCIT:C101029 NCIT MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common AV canal common AV canal Common AV Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 updated common AV canal NCIT:C101029 NCIT MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym common atrioventricular canal common atrioventricular canal Common Atrioventricular Canal NCIT:C101029 Atrioventricular Septal Defect NCIT:C101029 updated common atrioventricular canal NCIT:C101029 NCIT MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect endocardial cushion defect Endocardial Cushion Defect NCIT:C101029 Atrioventricular Septal Defect DOID:0050651 updated endocardial cushion defect NCIT:C101029 NCIT -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym ECD NCIT:C53972 Erdheim-Chester Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651 updated ECD NCIT:C53972 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym primary mediastinal (thymic) large B-cell lymphoma primary mediastinal (thymic) large B-cell lymphoma Primary Mediastinal (Thymic) Large B-Cell Lymphoma NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma ONCOTREE:PMBL updated primary mediastinal (thymic) large B-cell lymphoma NCIT:C9280 NCIT MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP NCIT:C3721 Lymphomatoid Papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP updated LYP NCIT:C3721 NCIT MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired Pure Red Cell Aplasia NCIT:C70548 Acquired Pure Red Cell Aplasia GARD:0010898 updated acquired pure red cell aplasia NCIT:C70548 NCIT -MONDO:0020366 congenital glaucoma oio:hasExactSynonym oio:hasNarrowSynonym primary congenital glaucoma primary congenital glaucoma Primary Congenital Glaucoma NCIT:C150251 Primary Congenital Glaucoma Orphanet:98976 updated primary congenital glaucoma NCIT:C150251 NCIT MONDO:0020479 pituitary gigantism oio:hasExactSynonym oio:hasRelatedSynonym gigantism gigantism Gigantism NCIT:C93046 Gigantism GARD:0006506 updated gigantism NCIT:C93046 NCIT MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 updated B acute lymphoblastic leukemia NCIT:C8644 NCIT MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B cell acute lymphocytic leukemia B cell acute lymphocytic leukemia B Cell Acute Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 updated B cell acute lymphocytic leukemia NCIT:C8644 NCIT @@ -61481,21 +59577,16 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B cell lymphocytic leukemia acute B cell lymphocytic leukemia Acute B Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 updated acute B cell lymphocytic leukemia NCIT:C8644 NCIT MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym acute B-cell lymphocytic leukemia acute B-cell lymphocytic leukemia Acute B-Cell Lymphocytic Leukemia NCIT:C8644 B Acute Lymphoblastic Leukemia NCIT:C8644 updated acute B-cell lymphocytic leukemia NCIT:C8644 NCIT MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B-ALL NCIT:C8644 B Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99860 updated B-ALL NCIT:C8644 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia NCIT:C8644 updated B acute lymphoblastic leukemia NCIT:C9140 NCIT -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym B acute lymphoblastic leukemia B acute lymphoblastic leukemia B Acute Lymphoblastic Leukemia NCIT:C9143 Adult B Acute Lymphoblastic Leukemia NCIT:C8644 updated B acute lymphoblastic leukemia NCIT:C9143 NCIT MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma NCIT:C3072 Ovarian Gynandroblastoma GARD:0009665 updated Gynandroblastoma NCIT:C3072 NCIT MONDO:0020546 acute graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym acute GVHD acute GVHD Acute GVHD NCIT:C4980 Acute Graft Versus Host Disease GARD:0006544 updated acute GVHD NCIT:C4980 NCIT MONDO:0020547 chronic graft versus host disease oio:hasExactSynonym oio:hasRelatedSynonym chronic GVHD chronic GVHD Chronic GVHD NCIT:C4981 Chronic Graft Versus Host Disease GARD:0010964 updated chronic GVHD NCIT:C4981 NCIT -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid Tumor Predisposition Syndrome NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome DOID:2129 updated rhabdoid tumor predisposition syndrome NCIT:C93268 NCIT MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym angiokeratoma of fordyce angiokeratoma of fordyce Angiokeratoma of Fordyce NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 updated angiokeratoma of fordyce NCIT:C7752 NCIT MONDO:0020597 angiokeratoma of scrotum oio:hasExactSynonym oio:hasBroadSynonym fordyce angiokeratoma fordyce angiokeratoma Fordyce Angiokeratoma NCIT:C7752 Angiokeratoma of Fordyce NCIT:C7752 updated fordyce angiokeratoma NCIT:C7752 NCIT -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma NCIT:C4051 updated meningioma, malignant NCIT:C38938 NCIT -MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 updated meningioma, malignant NCIT:C4051 NCIT MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, Malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 updated meningioma, malignant NCIT:C4051 NCIT +MONDO:0020635 anaplastic meningioma oio:hasExactSynonym oio:hasRelatedSynonym meningioma, malignant meningioma, malignant Meningioma, malignant NCIT:C4051 Anaplastic (Malignant) Meningioma NCIT:C4051 updated meningioma, malignant NCIT:C4051 NCIT MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym acute Bronchiolitis acute Bronchiolitis Acute Bronchiolitis NCIT:C39659 Acute Bronchiolitis NCIT:C39659 updated acute Bronchiolitis NCIT:C39659 NCIT MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSMC1 NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601776 updated EDSMC1 NCIT:C168975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020689 AIDS dementia complex oio:hasExactSynonym oio:hasRelatedSynonym AIDS Dementia NCIT:C2864 AIDS Dementia NCIT:C2864 updated AIDS Dementia NCIT:C2864 NCIT -MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C3058 Glioblastoma NCIT:C9094 updated glioblastoma NCIT:C3058 NCIT MONDO:0020690 adult glioblastoma oio:hasExactSynonym oio:hasBroadSynonym glioblastoma glioblastoma Glioblastoma NCIT:C9094 Adult Glioblastoma NCIT:C9094 updated glioblastoma NCIT:C9094 NCIT MONDO:0020708 brachial amyotrophic diplegia oio:hasExactSynonym oio:hasBroadSynonym BAD NCIT:C133085 Brachial Amyotrophic Diplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS NCIT:C133085 updated BAD NCIT:C133085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020725 anemia due to chronic disorder oio:hasExactSynonym oio:hasRelatedSynonym anemia due to Chronic Disorder anemia due to Chronic Disorder Anemia due to Chronic Disorder NCIT:C35659 Anemia due to Chronic Disorder NCIT:C35659 updated anemia due to Chronic Disorder NCIT:C35659 NCIT @@ -61503,7 +59594,6 @@ MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbo MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arbovirus infection Arbovirus infection Arbovirus Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 updated Arbovirus infection NCIT:C34396 NCIT MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection NCIT:C34396 updated Arthropod-Borne Viral Infection NCIT:C34396 NCIT MONDO:0020731 arbovirus infection oio:hasExactSynonym oio:hasRelatedSynonym Arthropod-borne viral infection Arthropod-borne viral infection Arthropod-Borne Viral Infection NCIT:C34396 Arthropod-Borne Viral Infection UMLS:C0003723 updated Arthropod-borne viral infection NCIT:C34396 NCIT -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 oio:hasExactSynonym oio:hasBroadSynonym EDA-ID EDA-Id EDA-ID NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300291 updated EDA-ID NCIT:C118844 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 updated Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 NCIT MONDO:0020767 cauda equina syndrome with neurogenic bladder oio:hasExactSynonym oio:hasRelatedSynonym Cauda equina syndrome with neurogenic bladder Cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder UMLS:C0007459 updated Cauda equina syndrome with neurogenic bladder NCIT:C34453 NCIT MONDO:0020773 cerebrospinal fluid rhinorrhea oio:hasExactSynonym oio:hasRelatedSynonym Cerebrospinal Fluid Rhinorrhea NCIT:C84627 Cerebrospinal Fluid Rhinorrhea MESH:D002559, NCIT:C84627 updated Cerebrospinal Fluid Rhinorrhea NCIT:C84627 NCIT @@ -61529,17 +59619,13 @@ MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynony MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 updated Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 NCIT MONDO:0020989 hereditary persistence of fetal hemoglobin oio:hasExactSynonym oio:hasRelatedSynonym Hereditary persistence of fetal hemoglobin Hereditary persistence of fetal hemoglobin Hereditary Persistence of Fetal Hemoglobin NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin UMLS:C0019025 updated Hereditary persistence of fetal hemoglobin NCIT:C129072 NCIT MONDO:0021032 herpes zoster with dermatitis of eyelid oio:hasExactSynonym oio:hasRelatedSynonym Herpes Zoster Dermatitis of Eyelid NCIT:C34696 Herpes Zoster Dermatitis of Eyelid NCIT:C34696 updated Herpes Zoster Dermatitis of Eyelid NCIT:C34696 NCIT -MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym extraosseous Ewing's tumor extraosseous Ewing's tumor Extraosseous Ewing's Tumor NCIT:C7135 Extraskeletal Ewing Sarcoma DOID:4985, NCIT:C7135 updated extraosseous Ewing's tumor NCIT:C7135 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body chemodectoma carotid body chemodectoma Carotid Body Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated carotid body chemodectoma NCIT:C2932 NCIT -MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated carotid body tumor NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid Body Tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated carotid body tumor NCIT:C2932 NCIT +MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym carotid body tumor carotid body tumor Carotid body tumor NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated carotid body tumor NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym chemodectoma chemodectoma Chemodectoma NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated chemodectoma NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym paraganglioma of the carotid body paraganglioma of the carotid body Paraganglioma of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated paraganglioma of the carotid body NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of carotid body tumor of carotid body Tumor of Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated tumor of carotid body NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym tumor of the carotid body tumor of the carotid body Tumor of the Carotid Body NCIT:C2932 Carotid Body Paraganglioma NCIT:C2932 updated tumor of the carotid body NCIT:C2932 NCIT -MONDO:0021061 neurofibromatosis oio:hasExactSynonym oio:hasNarrowSynonym neurofibromatosis type 2 neurofibromatosis type 2 Neurofibromatosis Type 2 NCIT:C3274 Neurofibromatosis Type 2 DOID:8712 updated neurofibromatosis type 2 NCIT:C3274 NCIT -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Glomus tumor Glomus tumor Glomus Tumor NCIT:C3060 Glomus Tumor GARD:0010599 updated Glomus tumor NCIT:C3060 NCIT -MONDO:0021069 malignant endocrine neoplasm oio:hasExactSynonym oio:hasBroadSynonym endocrine neoplasm endocrine neoplasm Endocrine Neoplasm NCIT:C3010 Endocrine Neoplasm DOID:170 updated endocrine neoplasm NCIT:C3010 NCIT MONDO:0021070 sublingual gland carcinoma oio:hasExactSynonym oio:hasBroadSynonym sublingual gland cancer sublingual gland cancer Sublingual Gland Cancer NCIT:C8397 Sublingual Gland Carcinoma NCIT:C8397 updated sublingual gland cancer NCIT:C8397 NCIT MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of visual system disorder of visual system Disorder of Visual System NCIT:C35126 Vision Disorder NCIT:C35126 updated disorder of visual system NCIT:C35126 NCIT MONDO:0021084 vision disorder oio:hasExactSynonym oio:hasRelatedSynonym visual Field disorder visual Field disorder Visual Field Disorder NCIT:C35126 Vision Disorder NCIT:C35126 updated visual Field disorder NCIT:C35126 NCIT @@ -61550,18 +59636,14 @@ MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tum MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor Appendiceal L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 updated appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor NCIT:C27445 NCIT MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell NET appendix L-cell NET Appendix L-Cell NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 updated appendix L-cell NET NCIT:C27445 NCIT MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym appendix L-cell glucagon-like peptide-producing NET appendix L-cell glucagon-like peptide-producing NET Appendix L-Cell Glucagon-Like Peptide-Producing NET NCIT:C27445 Appendix L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor NCIT:C27445 updated appendix L-cell glucagon-like peptide-producing NET NCIT:C27445 NCIT -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute Respiratory Failure NCIT:C27043 Acute Respiratory Failure NCIT:C27043, DOID:11162 updated acute respiratory failure NCIT:C27043 NCIT MONDO:0021129 microphthalmia oio:hasExactSynonym oio:hasNarrowSynonym microphthalmos microphthalmos Microphthalmos NCIT:C98989 Microphthalmos DOID:10629 updated microphthalmos NCIT:C98989 NCIT MONDO:0021165 Paget disease oio:hasExactSynonym oio:hasBroadSynonym Paget cell neoplasm Paget cell neoplasm Paget Cell Neoplasm NCIT:C7073 Paget Disease NCIT:C7073 updated Paget cell neoplasm NCIT:C7073 NCIT MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis NCIT:C34697 updated Herpetic Vulvovaginitis NCIT:C34697 NCIT MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic vulvovaginitis Herpetic vulvovaginitis Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis UMLS:C0019386 updated Herpetic vulvovaginitis NCIT:C34697 NCIT MONDO:0021190 DNA repair disease oio:hasExactSynonym oio:hasRelatedSynonym DNA repair deficiency DNA repair deficiency DNA Repair Deficiency NCIT:C7757 DNA Repair Disorder MESH:D049914 updated DNA repair deficiency NCIT:C7757 NCIT -MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 updated subareolar duct papillomatosis NCIT:C4192 NCIT MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar duct papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 updated subareolar duct papillomatosis NCIT:C4192 NCIT -MONDO:0021316 malignant tumor of minor salivary gland oio:hasExactSynonym oio:hasRelatedSynonym minor salivary gland cancer minor salivary gland cancer Minor Salivary Gland Cancer NCIT:C5957 Minor Salivary Gland Carcinoma MONDO:patterns/location updated minor salivary gland cancer NCIT:C5957 NCIT -MONDO:0021321 malignant tumor of extrahepatic bile duct oio:hasExactSynonym oio:hasBroadSynonym extrahepatic bile duct cancer extrahepatic bile duct cancer Extrahepatic Bile Duct Cancer NCIT:C3860 Extrahepatic Bile Duct Carcinoma MONDO:patterns/location updated extrahepatic bile duct cancer NCIT:C3860 NCIT +MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma NCIT:C4192 updated subareolar duct papillomatosis NCIT:C4192 NCIT MONDO:0021329 carcinoma of soft palate oio:hasExactSynonym oio:hasBroadSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma NCIT:C8395 updated soft palate cancer NCIT:C8395 NCIT -MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C3525 Malignant Parotid Gland Neoplasm NCIT:C6791 updated parotid gland cancer NCIT:C3525 NCIT MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma NCIT:C6791 updated parotid gland cancer NCIT:C6791 NCIT MONDO:0021333 carcinoma of lip oio:hasExactSynonym oio:hasBroadSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma NCIT:C3490 updated lip cancer NCIT:C3490 NCIT MONDO:0021335 carcinoma of duodenum oio:hasExactSynonym oio:hasBroadSynonym cancer of duodenum cancer of duodenum Cancer of Duodenum NCIT:C4803 Duodenal Carcinoma NCIT:C4803 updated cancer of duodenum NCIT:C4803 NCIT @@ -61574,13 +59656,9 @@ MONDO:0021337 tonsil carcinoma oio:hasExactSynonym oio:hasBroadSynonym tonsillar MONDO:0021343 carcinoma of floor of mouth oio:hasExactSynonym oio:hasBroadSynonym mouth floor cancer mouth floor cancer Mouth Floor Cancer NCIT:C9319 Floor of the Mouth Carcinoma NCIT:C9319 updated mouth floor cancer NCIT:C9319 NCIT MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus NCIT:C34779 updated Hypertrophic Lichen Planus NCIT:C34779 NCIT MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus Hypertrophic lichen planus Hypertrophic Lichen Planus NCIT:C34779 Hypertrophic Lichen Planus UMLS:C0023649 updated Hypertrophic lichen planus NCIT:C34779 NCIT -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myoblastoma myoblastoma Myoblastoma NCIT:C3252 Benign Granular Cell Tumor MESH:D009379 updated myoblastoma NCIT:C3252 NCIT -MONDO:0021545 myomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym myofibroblastoma myofibroblastoma Myofibroblastoma NCIT:C49012 Myofibroblastoma MESH:D009379 updated myofibroblastoma NCIT:C49012 NCIT MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia NCIT:C34853 updated Non-Autoimmune Hemolytic Anemia NCIT:C34853 NCIT MONDO:0021559 non-autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym Non-autoimmune hemolytic anemia Non-autoimmune hemolytic anemia Non-Autoimmune Hemolytic Anemia NCIT:C34853 Non-Autoimmune Hemolytic Anemia UMLS:C0028283 updated Non-autoimmune hemolytic anemia NCIT:C34853 NCIT MONDO:0021562 omphalitis oio:hasExactSynonym oio:hasRelatedSynonym Omphalitis NCIT:C116008 Omphalitis GTR:AN0533760, NCIT:C116008 updated Omphalitis NCIT:C116008 NCIT -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma of cerebrum astrocytoma of cerebrum Astrocytoma of Cerebrum NCIT:C4951 Cerebral Astrocytoma DOID:3069 updated astrocytoma of cerebrum NCIT:C4951 NCIT -MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma NCIT:C60781 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 updated astrocytoma NCIT:C60781 NCIT MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym sexually Transmitted infection sexually Transmitted infection Sexually Transmitted Infection NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 updated sexually Transmitted infection NCIT:C3365 NCIT MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym venereal disease venereal disease Venereal Disease NCIT:C3365 Sexually Transmitted Disorder MESH:D012749 updated venereal disease NCIT:C3365 NCIT MONDO:0021681 sexually transmitted disease oio:hasExactSynonym oio:hasRelatedSynonym STI NCIT:C3365 Sexually Transmitted Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D012749 updated STI NCIT:C3365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61622,7 +59700,6 @@ MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym G MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva NCIT:C3881 updated Leukoplakia of Gingiva NCIT:C3881 NCIT MONDO:0022538 leukoplakia of gingiva oio:hasExactSynonym oio:hasRelatedSynonym Leukoplakia of gingiva Leukoplakia of gingiva Leukoplakia of Gingiva NCIT:C3881 Leukoplakia of Gingiva UMLS:C0239737 updated Leukoplakia of gingiva NCIT:C3881 NCIT MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C118816 Childhood Bladder Carcinoma NCIT:C118816 updated bladder cancer NCIT:C118816 NCIT -MONDO:0022578 childhood bladder carcinoma oio:hasExactSynonym oio:hasBroadSynonym bladder cancer bladder cancer Bladder Cancer NCIT:C4912 Bladder Carcinoma NCIT:C118816 updated bladder cancer NCIT:C4912 NCIT MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus NCIT:C3937 updated Non-Neoplastic Nevus NCIT:C3937 NCIT MONDO:0022749 non-neoplastic nevus oio:hasExactSynonym oio:hasRelatedSynonym Non-neoplastic nevus Non-neoplastic nevus Non-Neoplastic Nevus NCIT:C3937 Non-Neoplastic Nevus UMLS:C0265027 updated Non-neoplastic nevus NCIT:C3937 NCIT MONDO:0022993 dipsogenic diabetes insipidus oio:hasExactSynonym oio:hasBroadSynonym primary polydipsia primary polydipsia Primary Polydipsia NCIT:C129735 Dipsogenic Diabetes Insipidus GARD:0010703, NCIT:C129735 updated primary polydipsia NCIT:C129735 NCIT @@ -61659,12 +59736,8 @@ MONDO:0023628 levator syndrome oio:hasExactSynonym oio:hasRelatedSynonym proctal MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma NCIT:C8428 updated Tympanic Paraganglioma NCIT:C8428 NCIT MONDO:0023682 tympanic paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym Tympanic paraganglioma Tympanic paraganglioma Tympanic Paraganglioma NCIT:C8428 Tympanic Paraganglioma UMLS:C0474820 updated Tympanic paraganglioma NCIT:C8428 NCIT MONDO:0024239 congenital anomaly of cardiovascular system oio:hasExactSynonym oio:hasRelatedSynonym congenital cardiovascular disorder congenital cardiovascular disorder Congenital Cardiovascular Disorder NCIT:C35729 Congenital Cardiovascular Abnormality updated congenital cardiovascular disorder NCIT:C35729 NCIT -MONDO:0024245 ductal eccrine adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma Wikipedia:Hidradenocarcinoma updated hidradenocarcinoma NCIT:C54664 NCIT MONDO:0024275 amebic dysentery oio:hasExactSynonym oio:hasRelatedSynonym amebic colitis amebic colitis Amebic Colitis NCIT:C34558 Amebic Colitis MESH:D004404 updated amebic colitis NCIT:C34558 NCIT MONDO:0024287 congenital vascular malformation oio:hasExactSynonym oio:hasBroadSynonym vascular malformation vascular malformation Vascular Malformation NCIT:C112117 Vascular Malformation NCIT:C112117 updated vascular malformation NCIT:C112117 NCIT -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym hypophosphatemic vitamin D-resistant rickets hypophosphatemic vitamin D-resistant rickets Hypophosphatemic Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets MESH:D063730 updated hypophosphatemic vitamin D-resistant rickets NCIT:C85234 NCIT -MONDO:0024300 hypophosphatemic rickets oio:hasExactSynonym oio:hasRelatedSynonym vitamin D-resistant rickets vitamin D-resistant rickets Vitamin D-resistant Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#DEPRECATED MESH:D063730 updated vitamin D-resistant rickets NCIT:C85234 NCIT -MONDO:0024330 infectious otitis media oio:hasExactSynonym oio:hasBroadSynonym otitis media otitis media Otitis Media NCIT:C34885 Otitis Media NCIT:C84354 updated otitis media NCIT:C34885 NCIT MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large bowel cancer of large bowel Cancer of Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 updated cancer of large bowel NCIT:C2955 NCIT MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of large intestine cancer of large intestine Cancer of Large Intestine NCIT:C2955 Colorectal Carcinoma NCIT:C2955 updated cancer of large intestine NCIT:C2955 NCIT MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the large bowel cancer of the large bowel Cancer of the Large Bowel NCIT:C2955 Colorectal Carcinoma NCIT:C2955 updated cancer of the large bowel NCIT:C2955 NCIT @@ -61676,9 +59749,6 @@ MONDO:0024331 colorectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym large MONDO:0024422 auditory perceptual disorders oio:hasExactSynonym oio:hasNarrowSynonym auditory perceptual disorder auditory perceptual disorder Auditory Perceptual Disorder NCIT:C84575 Auditory Perceptual Disorder MESH:D001308 updated auditory perceptual disorder NCIT:C84575 NCIT MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIL sil SIL NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 updated SIL NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024475 squamous cell intraepithelial neoplasia oio:hasExactSynonym oio:hasBroadSynonym SIN NCIT:C8334 Squamous Cell Intraepithelial Neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C8334 updated SIN NCIT:C8334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0024493 tumor grade 3, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade updated high grade NCIT:C14158 NCIT -MONDO:0024494 tumor grade 4, general grading system oio:hasExactSynonym oio:hasBroadSynonym high grade high grade High Grade NCIT:C14158 High Grade updated high grade NCIT:C14158 NCIT -MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NET NCIT:C95404 Digestive System Neuroendocrine Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 updated GEP-NET NCIT:C95404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bulbar palsy, progressive, with sensorineural deafness bulbar palsy, progressive, with sensorineural deafness Bulbar Palsy, Progressive, with Sensorineural Deafness NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 OMIM:211530 updated bulbar palsy, progressive, with sensorineural deafness NCIT:C133724 NCIT MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530 updated BVVLS1 NCIT:C133724 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 NCIT:C161005 Familial Focal Epilepsy with Variable Foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 updated FFEVF1 NCIT:C161005 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -61686,19 +59756,8 @@ MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasR MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 updated ATLD1 NCIT:C132224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024574 von Willebrand disease (hereditary or acquired) oio:hasExactSynonym oio:hasRelatedSynonym von Willebrand disease von Willebrand disease von Willebrand Disease NCIT:C68677 von Willebrand Disease updated von Willebrand disease NCIT:C68677 NCIT MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C3778 Serous Cystadenocarcinoma NCIT:C3778 updated serous adenocarcinoma NCIT:C3778 NCIT -MONDO:0024621 serous cystadenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym serous adenocarcinoma serous adenocarcinoma Serous Adenocarcinoma NCIT:C40101 Serous Adenocarcinoma NCIT:C3778 updated serous adenocarcinoma NCIT:C40101 NCIT -MONDO:0024647 urolithiasis oio:hasExactSynonym oio:hasBroadSynonym kidney stone kidney stone Kidney Stone NCIT:C114667 Nephrolithiasis updated kidney stone NCIT:C114667 NCIT -MONDO:0024674 Pancoast syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pancoast tumor Pancoast tumor Pancoast Tumor NCIT:C7527 Malignant Superior Sulcus Neoplasm MESH:D010178 updated Pancoast tumor NCIT:C7527 NCIT MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C27730 Childhood Kidney Wilms Tumor NCIT:C27730 updated Wilms tumor NCIT:C27730 NCIT -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor NCIT:C27730 updated Wilms tumor NCIT:C3267 NCIT -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym Wilms tumor NCIT:C3267 Wilms Tumor NCIT:C27730 updated Wilms tumor NCIT:C3267 NCIT -MONDO:0024676 childhood kidney Wilms tumor oio:hasExactSynonym oio:hasBroadSynonym kidney Wilms tumor kidney Wilms tumor Kidney Wilms Tumor NCIT:C40407 Kidney Wilms Tumor NCIT:C27730 updated kidney Wilms tumor NCIT:C40407 NCIT -MONDO:0024677 pancreatic insulinoma oio:hasExactSynonym oio:hasRelatedSynonym beta cell tumor beta cell tumor Beta Cell Tumor NCIT:C3140 Pancreatic Insulin-Producing Neuroendocrine Tumor MESH:D007340 updated beta cell tumor NCIT:C3140 NCIT -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 updated tenosynovial giant cell tumor NCIT:C3402 NCIT -MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasRelatedSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor Orphanet:66627 updated tenosynovial giant cell tumor NCIT:C3402 NCIT -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C3473 Choroid Plexus Neoplasm NCIT:C42080 updated choroid plexus neoplasm NCIT:C3473 NCIT MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm NCIT:C42080 updated choroid plexus neoplasm NCIT:C42080 NCIT -MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym oio:hasBroadSynonym choroid plexus neoplasm choroid plexus neoplasm Choroid Plexus Neoplasm NCIT:C8568 Adult Choroid Plexus Neoplasm NCIT:C42080 updated choroid plexus neoplasm NCIT:C8568 NCIT MONDO:0024873 clitoral carcinoma oio:hasExactSynonym oio:hasBroadSynonym clitoral cancer clitoral cancer Clitoral Cancer NCIT:C9362 Clitoral Carcinoma NCIT:C9362 updated clitoral cancer NCIT:C9362 NCIT MONDO:0024892 soft tissue amyloid neoplasm oio:hasExactSynonym oio:hasRelatedSynonym amyloid tumor amyloid tumor Amyloid Tumor NCIT:C8323 Amyloid Tumor DOID:6755 updated amyloid tumor NCIT:C8323 NCIT MONDO:0027026 Buschke Lowenstein tumor oio:hasExactSynonym oio:hasRelatedSynonym Buschke-Lowenstein tumor Buschke-Lowenstein tumor Buschke-Lowenstein Tumor NCIT:C6371 Giant Condyloma Acuminatum MESH:D062688 updated Buschke-Lowenstein tumor NCIT:C6371 NCIT @@ -61716,8 +59775,6 @@ MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:h MONDO:0032806 trichothiodystrophy 7, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym TTD7 NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618546 updated TTD7 NCIT:C173102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NOONAN SYNDROME 12 NOONAN SYNDROME 12 Noonan Syndrome 12 NCIT:C177120 Noonan Syndrome 12 OMIM:618624 updated NOONAN SYNDROME 12 NCIT:C177120 NCIT MONDO:0032839 noonan syndrome 12 oio:hasExactSynonym oio:hasRelatedSynonym NS12 NCIT:C177120 Noonan Syndrome 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618624 updated NS12 NCIT:C177120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0042233 disseminated candidiasis oio:hasExactSynonym oio:hasRelatedSynonym invasive candidiasis invasive candidiasis Invasive Candidiasis NCIT:C116813 Invasive Candidiasis updated invasive candidiasis NCIT:C116813 NCIT -MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26699 Bacterial Arthritis NCIT:C26700 updated septic arthritis NCIT:C26699 NCIT MONDO:0042485 infective arthritis oio:hasExactSynonym oio:hasRelatedSynonym septic arthritis septic arthritis Septic Arthritis NCIT:C26700 Infective Arthritis NCIT:C26700 updated septic arthritis NCIT:C26700 NCIT MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML oio:hasExactSynonym oio:hasNarrowSynonym GATA2 deficiency/MonoMac syndrome NCIT:C126349 GATA2 Deficiency NCIT:C126349 updated GATA2 deficiency/MonoMac syndrome NCIT:C126349 NCIT MONDO:0042983 neurocutaneous syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phacomatosis NCIT:C84348 Phakomatosis MESH:D020752 updated Phacomatosis NCIT:C84348 NCIT @@ -61730,18 +59787,11 @@ MONDO:0043544 nosocomial infection oio:hasExactSynonym oio:hasBroadSynonym HAI MONDO:0043726 multiple organ dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym MODS NCIT:C179648 Multiple Organ Dysfunction Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:D009102 updated MODS NCIT:C179648 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0044638 hypopharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the hypopharynx squamous cell carcinoma of the hypopharynx Squamous Cell Carcinoma of the Hypopharynx NCIT:C4043 Hypopharyngeal Squamous Cell Carcinoma Orphanet:494547 updated squamous cell carcinoma of the hypopharynx NCIT:C4043 NCIT MONDO:0044704 oropharynx squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of the oropharynx squamous cell carcinoma of the oropharynx Squamous Cell Carcinoma of the Oropharynx NCIT:C8181 Oropharyngeal Squamous Cell Carcinoma Orphanet:500478 updated squamous cell carcinoma of the oropharynx NCIT:C8181 NCIT -MONDO:0044788 perihilar intrahepatic cholangiocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym perihilar cholangiocarcinoma perihilar cholangiocarcinoma Perihilar Cholangiocarcinoma NCIT:C36077 Hilar Cholangiocarcinoma ONCOTREE:PHCH updated perihilar cholangiocarcinoma NCIT:C36077 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 updated carcinoma of liver and intrahepatic biliary tract NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 updated liver and intrahepatic biliary tract carcinoma NCIT:C3828 NCIT -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym liver and intrahepatic biliary tract carcinoma liver and intrahepatic biliary tract carcinoma Liver and Intrahepatic Biliary Tract Carcinoma NCIT:C7927 Liver Carcinoma NCIT:C3828 updated liver and intrahepatic biliary tract carcinoma NCIT:C7927 NCIT -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz nevus NCIT:C27007 Spitz Nevus OMIM:137550 updated spitz nevus NCIT:C27007 NCIT -MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym spitz nevus spitz nevus Spitz Nevus NCIT:C27007 Spitz Nevus OMIM:137550 updated spitz nevus NCIT:C27007 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant Congenital Melanocytic Nevus NCIT:C4234 Giant Congenital Melanocytic Nevus GARD:0002469, Orphanet:626 updated giant congenital melanocytic nevus NCIT:C4234 NCIT -MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C3247 Myelodysplastic Syndrome NCIT:C68744 updated myelodysplastic syndrome NCIT:C3247 NCIT MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndrome myelodysplastic syndrome Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome NCIT:C68744 updated myelodysplastic syndrome NCIT:C68744 NCIT MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C114777 Adult Germ Cell Tumor NCIT:C114777 updated germ cell tumor NCIT:C114777 NCIT -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C3708 Germ Cell Tumor NCIT:C114777 updated germ cell tumor NCIT:C3708 NCIT -MONDO:0044878 adult germ cell tumor oio:hasExactSynonym oio:hasBroadSynonym germ cell tumor germ cell tumor Germ Cell Tumor NCIT:C7928 Childhood Germ Cell Tumor NCIT:C114777 updated germ cell tumor NCIT:C7928 NCIT MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym oio:hasBroadSynonym oral cavity cancer oral cavity cancer Oral Cavity Cancer NCIT:C8990 Oral Cavity Carcinoma NCIT:C8990 updated oral cavity cancer NCIT:C8990 NCIT MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of oropharynx cancer of oropharynx Cancer of Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 updated cancer of oropharynx NCIT:C9105 NCIT MONDO:0044926 oropharyngeal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the oropharynx cancer of the oropharynx Cancer of the Oropharynx NCIT:C9105 Oropharyngeal Carcinoma NCIT:C9105 updated cancer of the oropharynx NCIT:C9105 NCIT @@ -61751,17 +59801,12 @@ MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym cancer of the rectum cancer of the rectum Cancer of the Rectum NCIT:C9382 Rectal Carcinoma NCIT:C9382 updated cancer of the rectum NCIT:C9382 NCIT MONDO:0044937 rectal carcinoma oio:hasExactSynonym oio:hasBroadSynonym rectal cancer rectal cancer Rectal Cancer NCIT:C9382 Rectal Carcinoma NCIT:C9382 updated rectal cancer NCIT:C9382 NCIT MONDO:0044983 benign lipomatous neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor of adipose tissue benign tumor of adipose tissue Benign Tumor of Adipose Tissue NCIT:C4502 Benign Lipomatous Neoplasm NCIT:C4502 updated benign tumor of adipose tissue NCIT:C4502 NCIT -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 updated benign osseous neoplasm NCIT:C4880 NCIT -MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C4880 Benign Bone Neoplasm NCIT:C6602 updated benign osseous tumor NCIT:C4880 NCIT MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous neoplasm benign osseous neoplasm Benign Osseous Neoplasm NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 updated benign osseous neoplasm NCIT:C6602 NCIT MONDO:0045052 benign osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign osseous tumor benign osseous tumor Benign Osseous Tumor NCIT:C6602 Benign Osteogenic Neoplasm NCIT:C6602 updated benign osseous tumor NCIT:C6602 NCIT MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 updated osseous neoplasm NCIT:C6603 NCIT MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C6603 Osteogenic Neoplasm NCIT:C6603 updated osseous tumor NCIT:C6603 NCIT -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous neoplasm osseous neoplasm Osseous Neoplasm NCIT:C9343 Bone Neoplasm NCIT:C6603 updated osseous neoplasm NCIT:C9343 NCIT -MONDO:0045053 osteogenic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym osseous tumor osseous tumor Osseous Tumor NCIT:C9343 Bone Neoplasm NCIT:C6603 updated osseous tumor NCIT:C9343 NCIT MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 oio:hasExactSynonym oio:hasRelatedSynonym NSLH2 NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617506 updated NSLH2 NCIT:C176940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Tosti syndrome Tosti syndrome Tosti Syndrome NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 OMIM:607721 updated Tosti syndrome NCIT:C176939 NCIT -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 oio:hasExactSynonym oio:hasBroadSynonym NSLH NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 updated NSLH NCIT:C178129 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0054677 combined oxidative phosphorylation deficiency 33 oio:hasExactSynonym oio:hasRelatedSynonym COXPD33 NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617713 updated COXPD33 NCIT:C174440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym atopic dermatitis, elevated IgE, and eosinophilia atopic dermatitis, elevated IgE, and eosinophilia Atopic Dermatitis, Elevated IgE, and Eosinophilia NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 updated atopic dermatitis, elevated IgE, and eosinophilia NCIT:C176630 NCIT MONDO:0054697 immunodeficiency 11b with atopic dermatitis oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 11B with ATOPIC dermatitis immunodeficiency 11B with ATOPIC dermatitis Immunodeficiency 11B with Atopic Dermatitis NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis OMIM:617638 updated immunodeficiency 11B with ATOPIC dermatitis NCIT:C176630 NCIT @@ -61770,10 +59815,6 @@ MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 oio:hasExactSyno MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym dopamine transporter deficiency syndrome dopamine transporter deficiency syndrome Dopamine Transporter Deficiency Syndrome NCIT:C129866 Dopamine Transporter Deficiency Syndrome OMIM:613135 updated dopamine transporter deficiency syndrome NCIT:C129866 NCIT MONDO:0054835 classic dopamine transporter deficiency syndrome oio:hasExactSynonym oio:hasBroadSynonym PKDYS NCIT:C129866 Dopamine Transporter Deficiency Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613135 updated PKDYS NCIT:C129866 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase I deficiency GTP cyclohydrolase I deficiency GTP Cyclohydrolase I Deficiency NCIT:C141442 GTP Cyclohydrolase I Deficiency Orphanet:2102 updated GTP cyclohydrolase I deficiency NCIT:C141442 NCIT -MONDO:0100249 46,XX testicular disorder of sex development oio:hasExactSynonym oio:hasRelatedSynonym XX Male, Sry-positive XX Male, Sry-positive XX Male, SRY-Positive NCIT:C179867 46,XX Sex Reversal 1 OMIM:400045 updated XX Male, Sry-positive NCIT:C179867 NCIT -MONDO:0100250 46,XX sex reversal 1 oio:hasExactSynonym oio:hasBroadSynonym ovotesticular DSD ovotesticular DSD Ovotesticular DSD NCIT:C127167 Ovotesticular Differences of Sex Development OMIM:400045 updated ovotesticular DSD NCIT:C127167 NCIT -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym glioma glioma Glioma NCIT:C3059 Glioma Orphanet:182067 updated glioma NCIT:C3059 NCIT -MONDO:0100342 malignant glioma oio:hasExactSynonym oio:hasBroadSynonym neuroglial tumor neuroglial tumor Neuroglial Tumor NCIT:C3059 Glioma NCIT:C3059, DOID:3070 updated neuroglial tumor NCIT:C3059 NCIT MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MMIH syndrome MMIH syndrome MMIH Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 updated MMIH syndrome NCIT:C98982 NCIT MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 updated megacystis, microcolon, hypoperistalsis syndrome NCIT:C98982 NCIT MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome NCIT:C98982 MMIH Syndrome NCIT:C98982 updated megacystis, microcolon, intestinal hypoperistalsis syndrome NCIT:C98982 NCIT @@ -61786,7 +59827,6 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital Disorder of Deglycosylation NCIT:C126746 Congenital Disorder of Deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical updated congenital disorder of deglycosylation NCIT:C126746 NCIT MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym CDDG NCIT:C126746 Congenital Disorder of Deglycosylation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615273, MONDO:Lexical updated CDDG NCIT:C126746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with Vanishing White Matter NCIT:C122664 Leukoencephalopathy with Vanishing White Matter OMIM:603896 updated leukoencephalopathy with vanishing WHITE matter NCIT:C122664 NCIT -MONDO:1030008 mitral valve insufficiency oio:hasExactSynonym oio:hasNarrowSynonym congenital mitral insufficiency congenital mitral insufficiency Congenital Mitral Insufficiency NCIT:C197881 Congenital Mitral Insufficiency DOID:11502 updated congenital mitral insufficiency NCIT:C197881 NCIT MONDO:0000005 alopecia, isolated oio:hasExactSynonym Alopecia, isolated OMIMPS:203655 Alopecia, isolated added Alopecia, isolated OMIMPS:203655 OMIM MONDO:0000044 hereditary hypophosphatemic rickets oio:hasExactSynonym Hypophosphatemic rickets OMIMPS:193100 Hypophosphatemic rickets added Hypophosphatemic rickets OMIMPS:193100 OMIM MONDO:0000045 hypothyroidism, congenital, nongoitrous oio:hasExactSynonym Hypothyroidism, congenital, nongoitrous OMIMPS:275200 Hypothyroidism, congenital, nongoitrous added Hypothyroidism, congenital, nongoitrous OMIMPS:275200 OMIM @@ -65826,47 +63866,24 @@ MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deleti MONDO:0000104 anemia, hypochromic microcytic with iron overload oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic, with iron overload Anemia, hypochromic microcytic, with iron overload OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload confirmed anemia, hypochromic microcytic, with iron overload OMIMPS:206100 OMIM MONDO:0000118 reticulate pigment disorder oio:hasExactSynonym reticulate pigment disorders reticulate pigment disorders Reticulate pigment disorders OMIMPS:179850 Reticulate pigment disorders confirmed reticulate pigment disorders OMIMPS:179850 OMIM MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies Immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies confirmed immunodeficiency-centromeric instability-facial anomalies OMIMPS:242860 OMIM -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 confirmed Mosaic variegated aneuploidy syndrome 1 OMIM:257300 OMIM -MONDO:0000141 mosaic variegated aneuploidy syndrome oio:hasExactSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0000152 thiamine-responsive dysfunction syndrome oio:hasExactSynonym thiamine-responsive dysfunction syndrome thiamine-responsive dysfunction syndrome Thiamine-responsive dysfunction syndrome OMIMPS:249270 Thiamine-responsive dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed thiamine-responsive dysfunction syndrome OMIMPS:249270 OMIM -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst OMIM:251505 microphthalmia/coloboma 4 confirmed microphthalmia with colobomatous cyst OMIM:251505 OMIM -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 confirmed cerebroocular dysplasia-muscular dystrophy syndrome OMIM:236670 OMIM -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym hard syndrome OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 confirmed hard syndrome OMIM:236670 OMIM MONDO:0000182 congenital myasthenic syndrome with tubular aggregates oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates myasthenic syndrome, congenital, with tubular aggregates Myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates confirmed myasthenic syndrome, congenital, with tubular aggregates OMIMPS:610542 OMIM MONDO:0000188 GLUT1 deficiency syndrome oio:hasExactSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed GLUT1 deficiency syndrome OMIMPS:606777 OMIM -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 confirmed Laband syndrome OMIM:135500 OMIM MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed microcephaly, short stature, and impaired glucose metabolism 1 OMIM:616033 OMIM MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym MSSGM1 OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MSSGM1 OMIM:616033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures oio:hasExactSynonym spinal muscular atrophy with congenital bone fractures spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with congenital bone fractures OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures confirmed spinal muscular atrophy with congenital bone fractures OMIMPS:616866 OMIM -MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, idiopathic, of infancy OMIM:143880 hypercalcemia, infantile, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed hypercalcemia, idiopathic, of infancy OMIM:143880 OMIM MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym hypercalcemia, infantile hypercalcemia, infantile Hypercalcemia, infantile OMIMPS:143880 Hypercalcemia, infantile confirmed hypercalcemia, infantile OMIMPS:143880 OMIM MONDO:0000334 multinodular goiter oio:hasExactSynonym goiter, multinodular goiter, multinodular Goiter, multinodular OMIMPS:138800 Goiter, multinodular confirmed goiter, multinodular OMIMPS:138800 OMIM -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym Ullrich scleroatonic muscular dystrophy Ullrich scleroatonic muscular dystrophy ullrich scleroatonic muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a confirmed Ullrich scleroatonic muscular dystrophy OMIM:254090 OMIM -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym Spondylocostal Dysplasia Spondylocostal Dysplasia spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 confirmed Spondylocostal Dysplasia OMIM:122600 OMIM -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 confirmed spondylocostal dysplasia OMIM:122600 OMIM -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym costovertebral dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive confirmed costovertebral dysplasia OMIM:277300 OMIM MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym spondylocostal dysostosis spondylocostal dysostosis Spondylocostal dysostosis OMIMPS:277300 Spondylocostal dysostosis confirmed spondylocostal dysostosis OMIMPS:277300 OMIM MONDO:0000390 vitelliform macular dystrophy oio:hasExactSynonym macular dystrophy, vitelliform macular dystrophy, vitelliform Macular dystrophy, vitelliform OMIMPS:153840 Macular dystrophy, vitelliform confirmed macular dystrophy, vitelliform OMIMPS:153840 OMIM MONDO:0000447 autosomal dominant polycystic liver disease oio:hasExactSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease confirmed polycystic liver disease OMIMPS:174050 OMIM MONDO:0000453 short QT syndrome oio:hasExactSynonym short QT syndrome short QT syndrome Short QT syndrome OMIMPS:609620 Short QT syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed short QT syndrome OMIMPS:609620 OMIM -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS OMIM:275630 chanarin-dorfman syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDS OMIM:275630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome OMIMPS:300352 Cerebral creatine deficiency syndrome confirmed cerebral creatine deficiency syndrome OMIMPS:300352 OMIM -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Ochoa syndrome ochoa syndrome OMIM:236730 urofacial syndrome 1 confirmed Ochoa syndrome OMIM:236730 OMIM -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome urofacial syndrome OMIM:236730 urofacial syndrome 1 confirmed Urofacial Syndrome OMIM:236730 OMIM -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis with peculiar facial expression OMIM:236730 urofacial syndrome 1 confirmed hydronephrosis with peculiar facial expression OMIM:236730 OMIM -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 confirmed urofacial syndrome OMIM:236730 OMIM MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome confirmed Urofacial Syndrome OMIMPS:236730 OMIM MONDO:0000463 Ochoa syndrome oio:hasExactSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome confirmed urofacial syndrome OMIMPS:236730 OMIM -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 confirmed pagetoid amyotrophic lateral sclerosis OMIM:167320 OMIM -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym pagetoid neuroskeletal syndrome OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 confirmed pagetoid neuroskeletal syndrome OMIM:167320 OMIM MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oio:hasExactSynonym inclusion body myopathy/Paget disease/frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia Inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia confirmed inclusion body myopathy/Paget disease/frontotemporal dementia OMIMPS:167320 OMIM -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym familial juvenile hyperuricemic nephropathy OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 confirmed familial juvenile hyperuricemic nephropathy OMIM:162000 OMIM -MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 confirmed gouty nephropathy, familial juvenile OMIM:162000 OMIM MONDO:0000608 familial juvenile hyperuricemic nephropathy oio:hasExactSynonym tubulointerstitial kidney disease tubulointerstitial kidney disease Tubulointerstitial kidney disease OMIMPS:162000 Tubulointerstitial kidney disease confirmed tubulointerstitial kidney disease OMIMPS:162000 OMIM -MONDO:0000700 familial hemiplegic migraine oio:hasExactSynonym FHM FHM fhm OMIM:141500 migraine, familial hemiplegic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHM OMIM:141500 OMIM -MONDO:0000723 stutter disorder oio:hasExactSynonym stammering OMIM:184450 stuttering, familial persistent, 1 confirmed stammering OMIM:184450 OMIM MONDO:0000824 congenital diarrhea oio:hasExactSynonym diarrhea, congenital diarrhea, congenital Diarrhea, congenital OMIMPS:214700 Diarrhea, congenital confirmed diarrhea, congenital OMIMPS:214700 OMIM -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 confirmed mitochondrial myopathy and sideroblastic anemia OMIM:600462 OMIM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Andermann syndrome Andermann syndrome andermann syndrome OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy confirmed Andermann syndrome OMIM:218000 OMIM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym Charlevoix disease Charlevoix disease charlevoix disease OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy confirmed Charlevoix disease OMIM:218000 OMIM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy confirmed agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 OMIM @@ -65887,35 +63904,25 @@ MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:207 MONDO:0001046 imperforate anus oio:hasExactSynonym anus, imperforate OMIM:301800 anus, imperforate confirmed anus, imperforate OMIM:301800 OMIM MONDO:0001056 gastric cancer oio:hasExactSynonym gastric cancer OMIM:613659 gastric cancer confirmed gastric cancer OMIM:613659 OMIM MONDO:0001115 familial polycythemia oio:hasExactSynonym erythrocytosis, familial erythrocytosis, familial Erythrocytosis, familial OMIMPS:133100 Erythrocytosis, familial confirmed erythrocytosis, familial OMIMPS:133100 OMIM -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 confirmed Landouzy-Dejerine muscular dystrophy OMIM:158900 OMIM -MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 confirmed facioscapulohumeral muscular dystrophy OMIM:158900 OMIM MONDO:0001347 facioscapulohumeral muscular dystrophy oio:hasExactSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy confirmed facioscapulohumeral muscular dystrophy OMIMPS:158900 OMIM MONDO:0001384 myopia oio:hasExactSynonym myopia myopia Myopia OMIMPS:160700 Myopia confirmed myopia OMIMPS:160700 OMIM -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberose sclerosis OMIM:191100 tuberous sclerosis 1 confirmed tuberose sclerosis OMIM:191100 OMIM -MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis complex OMIM:191100 tuberous sclerosis 1 confirmed tuberous sclerosis complex OMIM:191100 OMIM MONDO:0001734 tuberous sclerosis oio:hasExactSynonym tuberous sclerosis tuberous sclerosis Tuberous sclerosis OMIMPS:191100 Tuberous sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed tuberous sclerosis OMIMPS:191100 OMIM MONDO:0002009 major depressive disorder oio:hasExactSynonym major depressive disorder OMIM:608516 major depressive disorder confirmed major depressive disorder OMIM:608516 OMIM MONDO:0002009 major depressive disorder oio:hasExactSynonym unipolar depression OMIM:608516 major depressive disorder confirmed unipolar depression OMIM:608516 OMIM -MONDO:0002010 FG syndrome oio:hasExactSynonym Keller syndrome Keller syndrome keller syndrome OMIM:305450 opitz-kaveggia syndrome confirmed Keller syndrome OMIM:305450 OMIM MONDO:0002070 ventricular septal defect oio:hasExactSynonym ventricular septal defect ventricular septal defect Ventricular septal defect OMIMPS:614429 Ventricular septal defect confirmed ventricular septal defect OMIMPS:614429 OMIM -MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym GSD OMIM:137440 gerstmann-straussler disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GSD OMIM:137440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0002412 disorder of glycogen metabolism oio:hasExactSynonym glycogen storage disease glycogen storage disease Glycogen storage disease OMIMPS:232200 Glycogen storage disease confirmed glycogen storage disease OMIMPS:232200 OMIM MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones OMIM:102660 adamantinoma of long bones confirmed adamantinoma of long bones OMIM:102660 OMIM -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 confirmed Treacher Collins Syndrome OMIM:154500 OMIM -MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome Treacher Collins syndrome treacher collins syndrome OMIM:154500 treacher collins syndrome 1 confirmed Treacher Collins syndrome OMIM:154500 OMIM MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins Syndrome Treacher Collins Syndrome Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome confirmed Treacher Collins Syndrome OMIMPS:154500 OMIM MONDO:0002457 Treacher-Collins syndrome oio:hasExactSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome confirmed Treacher Collins syndrome OMIMPS:154500 OMIM MONDO:0002474 primary hyperoxaluria oio:hasExactSynonym hyperoxaluria, primary hyperoxaluria, primary Hyperoxaluria, primary OMIMPS:259900 Hyperoxaluria, primary confirmed hyperoxaluria, primary OMIMPS:259900 OMIM MONDO:0003947 hyper-IgM syndrome oio:hasExactSynonym immunodeficiency with hyper-IgM immunodeficiency with hyper-IgM Immunodeficiency with hyper-IgM OMIMPS:308230 Immunodeficiency with hyper-IgM confirmed immunodeficiency with hyper-IgM OMIMPS:308230 OMIM MONDO:0004573 ariboflavinosis oio:hasExactSynonym riboflavin deficiency OMIM:615026 riboflavin deficiency confirmed riboflavin deficiency OMIM:615026 OMIM MONDO:0004743 hyperhomocysteinemia oio:hasExactSynonym hyperhomocysteinemia OMIM:603174 hyperhomocysteinemia confirmed hyperhomocysteinemia OMIM:603174 OMIM -MONDO:0004822 bronchiectasis oio:hasExactSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 confirmed Polynesian bronchiectasis OMIM:244400 OMIM MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm oio:hasExactSynonym celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm confirmed celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870 OMIM MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym CLL OMIM:151400 leukemia, chronic lymphocytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLL OMIM:151400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic OMIM:603165 dermatitis, atopic confirmed dermatitis, atopic OMIM:603165 OMIM MONDO:0004980 atopic eczema oio:hasExactSynonym eczema, atopic OMIM:603165 dermatitis, atopic confirmed eczema, atopic OMIM:603165 OMIM MONDO:0004980 atopic eczema oio:hasExactSynonym ATOD ATOD atod OMIM:603165 dermatitis, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATOD OMIM:603165 OMIM -MONDO:0004980 atopic eczema oio:hasExactSynonym dermatitis, atopic dermatitis, atopic Dermatitis, atopic OMIMPS:603165 Dermatitis, atopic confirmed dermatitis, atopic OMIMPS:603165 OMIM MONDO:0004983 spermatogenic failure oio:hasExactSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure confirmed spermatogenic failure OMIMPS:258150 OMIM MONDO:0005002 chronic obstructive pulmonary disease oio:hasExactSynonym COPD OMIM:606963 pulmonary disease, chronic obstructive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COPD OMIM:606963 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0005081 preeclampsia oio:hasExactSynonym preeclampsia/eclampsia preeclampsia/eclampsia Preeclampsia/eclampsia OMIMPS:189800 Preeclampsia/eclampsia confirmed preeclampsia/eclampsia OMIMPS:189800 OMIM @@ -65930,7 +63937,6 @@ MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym noninsulin-dependent MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes mellitus OMIM:125853 type 2 diabetes mellitus confirmed type 2 diabetes mellitus OMIM:125853 OMIM MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym T2D OMIM:125853 type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed T2D OMIM:125853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0005150 age-related macular degeneration oio:hasExactSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related confirmed macular degeneration, age-related OMIMPS:603075 OMIM -MONDO:0005180 Parkinson disease oio:hasExactSynonym PD OMIM:168600 parkinson disease, late-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PD OMIM:168600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease OMIMPS:168600 Parkinson disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Parkinson disease OMIMPS:168600 OMIM MONDO:0005260 autism oio:hasExactSynonym autism OMIM:209850 autism confirmed autism OMIM:209850 OMIM MONDO:0005265 inflammatory bowel disease oio:hasExactSynonym inflammatory bowel disease inflammatory bowel disease Inflammatory bowel disease OMIMPS:266600 Inflammatory bowel disease confirmed inflammatory bowel disease OMIMPS:266600 OMIM @@ -65939,10 +63945,8 @@ MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym corneal dystroph MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias OMIMPS:300633 Hypospadias confirmed hypospadias OMIMPS:300633 OMIM MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis OMIMPS:166800 Otosclerosis confirmed otosclerosis OMIMPS:166800 OMIM MONDO:0005382 bone Paget disease oio:hasExactSynonym Paget disease of bone OMIMPS:167250 Paget disease of bone confirmed Paget disease of bone OMIMPS:167250 OMIM -MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym PBC PBC pbc OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PBC OMIM:109720 OMIM MONDO:0005500 congenital disorder of glycosylation type I oio:hasExactSynonym congenital disorders of glycosylation, type I congenital disorders of glycosylation, type I Congenital disorders of glycosylation, type I OMIMPS:212065 Congenital disorders of glycosylation, type I confirmed congenital disorders of glycosylation, type I OMIMPS:212065 OMIM MONDO:0005501 congenital disorder of glycosylation type II oio:hasExactSynonym congenital disorders of glycosylation, type II congenital disorders of glycosylation, type II Congenital disorders of glycosylation, type II OMIMPS:212066 Congenital disorders of glycosylation, type II confirmed congenital disorders of glycosylation, type II OMIMPS:212066 OMIM -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym multiple cartilaginous exostoses OMIM:133700 exostoses, multiple, type 1 confirmed multiple cartilaginous exostoses OMIM:133700 OMIM MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym exostoses, multiple exostoses, multiple Exostoses, Multiple OMIMPS:133700 Exostoses, Multiple confirmed exostoses, multiple OMIMPS:133700 OMIM MONDO:0005575 colorectal cancer oio:hasExactSynonym colorectal cancer OMIM:114500 colorectal cancer confirmed colorectal cancer OMIM:114500 OMIM MONDO:0005579 idiopathic generalized epilepsy oio:hasExactSynonym epilepsy, idiopathic generalized OMIM:600669 epilepsy, idiopathic generalized confirmed epilepsy, idiopathic generalized OMIM:600669 OMIM @@ -65955,22 +63959,15 @@ MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym adult lactase MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym disaccharide intolerance 3 OMIM:223100 lactose intolerance, adult type confirmed disaccharide intolerance 3 OMIM:223100 OMIM MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym hypolactasia, adult type OMIM:223100 lactose intolerance, adult type confirmed hypolactasia, adult type OMIM:223100 OMIM MONDO:0006065 lactose intolerance adult type oio:hasExactSynonym lactose intolerance, ADULT type lactose intolerance, ADULT type lactose intolerance, adult type OMIM:223100 lactose intolerance, adult type confirmed lactose intolerance, ADULT type OMIM:223100 OMIM -MONDO:0006248 hydatidiform mole oio:hasExactSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 confirmed hydatidiform mole OMIM:231090 OMIM MONDO:0006292 malignant mesothelioma oio:hasExactSynonym mesothelioma, malignant OMIM:156240 mesothelioma, malignant confirmed mesothelioma, malignant OMIM:156240 OMIM -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym hemochromatosis, hereditary OMIM:235200 hemochromatosis, type 1 confirmed hemochromatosis, hereditary OMIM:235200 OMIM MONDO:0006536 congenital generalized lipodystrophy oio:hasExactSynonym lipodystrophy, congenital generalized lipodystrophy, congenital generalized Lipodystrophy, congenital generalized OMIMPS:608594 Lipodystrophy, congenital generalized confirmed lipodystrophy, congenital generalized OMIMPS:608594 OMIM MONDO:0006602 porokeratosis oio:hasExactSynonym porokeratosis porokeratosis Porokeratosis OMIMPS:175800 Porokeratosis confirmed porokeratosis OMIMPS:175800 OMIM -MONDO:0006664 atrial septal defect oio:hasExactSynonym ASD ASD asd OMIM:108800 atrial septal defect 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ASD OMIM:108800 OMIM MONDO:0006664 atrial septal defect oio:hasExactSynonym atrial septal defect atrial septal defect Atrial septal defect OMIMPS:108800 Atrial septal defect confirmed atrial septal defect OMIMPS:108800 OMIM MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym fibromuscular dysplasia of arteries OMIM:135580 fibromuscular dysplasia, arterial confirmed fibromuscular dysplasia of arteries OMIM:135580 OMIM MONDO:0006761 fibromuscular dysplasia oio:hasExactSynonym FMDA OMIM:135580 fibromuscular dysplasia, arterial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FMDA OMIM:135580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym Melnick-Fraser syndrome Melnick-Fraser syndrome melnick-fraser syndrome OMIM:113650 branchiootorenal syndrome 1 confirmed Melnick-Fraser syndrome OMIM:113650 OMIM -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal dysplasia OMIM:113650 branchiootorenal syndrome 1 confirmed branchiootorenal dysplasia OMIM:113650 OMIM MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym branchiootorenal syndrome branchiootorenal syndrome Branchiootorenal syndrome OMIMPS:113650 Branchiootorenal syndrome confirmed branchiootorenal syndrome OMIMPS:113650 OMIM MONDO:0007031 familial abdominal aortic aneurysm oio:hasExactSynonym aortic aneurysm, familial abdominal aortic aneurysm, familial abdominal Aortic aneurysm, familial abdominal OMIMPS:100070 Aortic aneurysm, familial abdominal confirmed aortic aneurysm, familial abdominal OMIMPS:100070 OMIM MONDO:0007032 prune belly syndrome oio:hasExactSynonym prune belly syndrome OMIM:100100 prune belly syndrome confirmed prune belly syndrome OMIM:100100 OMIM -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 confirmed congenital scalp defects with distal limb reduction anomalies OMIM:100300 OMIM -MONDO:0007034 Adams-Oliver syndrome oio:hasExactSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AOS OMIM:100300 OMIM MONDO:0007036 Achard syndrome oio:hasExactSynonym Achard syndrome Achard syndrome achard syndrome OMIM:100700 achard syndrome confirmed Achard syndrome OMIM:100700 OMIM MONDO:0007037 Achondroplasia oio:hasExactSynonym Achondroplasia Achondroplasia achondroplasia OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Achondroplasia OMIM:100800 OMIM MONDO:0007037 Achondroplasia oio:hasExactSynonym ACH OMIM:100800 achondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACH OMIM:100800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -66079,8 +64076,6 @@ MONDO:0007132 anonychia-ectrodactyly oio:hasExactSynonym anonychia-ectrodactyly MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly oio:hasExactSynonym anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly anonychia-onychodystrophy with brachydactyly type B and ectrodactyly OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly confirmed anonychia-onychodystrophy with brachydactyly type b and ectrodactyly OMIM:106990 OMIM MONDO:0007134 Cooks syndrome oio:hasExactSynonym Cooks syndrome Cooks syndrome cooks syndrome OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Cooks syndrome OMIM:106995 OMIM MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym anterior segment dysgenesis 1 OMIM:107250 anterior segment dysgenesis 1 confirmed anterior segment dysgenesis 1 OMIM:107250 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym rear syndrome OMIM:107480 townes-brocks syndrome 1 confirmed rear syndrome OMIM:107480 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 confirmed renal-ear-anal-radial syndrome OMIM:107480 OMIM MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome OMIMPS:107480 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Townes-Brocks syndrome OMIMPS:107480 OMIM MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma oio:hasExactSynonym aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma confirmed aortic arch interruption, facial palsy, and retinal coloboma OMIM:107550 OMIM MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym obstructive sleep apnea syndrome OMIM:107650 apnea, obstructive sleep confirmed obstructive sleep apnea syndrome OMIM:107650 OMIM @@ -66133,10 +64128,6 @@ MONDO:0007184 alopecia, androgenetic, 1 oio:hasExactSynonym AGA1 OMIM:109200 MONDO:0007185 Banki syndrome oio:hasExactSynonym Banki syndrome Banki syndrome banki syndrome OMIM:109300 banki syndrome confirmed Banki syndrome OMIM:109300 OMIM MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux OMIM:109350 gastroesophageal reflux confirmed gastroesophageal reflux OMIM:109350 OMIM MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym gastroesophageal reflux disease OMIM:109350 gastroesophageal reflux confirmed gastroesophageal reflux disease OMIM:109350 OMIM -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin syndrome Gorlin syndrome gorlin syndrome OMIM:109400 basal cell nevus syndrome 1 confirmed Gorlin syndrome OMIM:109400 OMIM -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym Gorlin-Goltz syndrome Gorlin-Goltz syndrome gorlin-goltz syndrome OMIM:109400 basal cell nevus syndrome 1 confirmed Gorlin-Goltz syndrome OMIM:109400 OMIM -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome OMIM:109400 basal cell nevus syndrome 1 confirmed basal cell nevus syndrome OMIM:109400 OMIM -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym nevoid basal cell carcinoma syndrome OMIM:109400 basal cell nevus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed nevoid basal cell carcinoma syndrome OMIM:109400 OMIM MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym basal cell nevus syndrome basal cell nevus syndrome Basal cell nevus syndrome OMIMPS:109400 Basal cell nevus syndrome confirmed basal cell nevus syndrome OMIMPS:109400 OMIM MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 confirmed leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 OMIM MONDO:0007191 Behcet disease oio:hasExactSynonym Behcet disease OMIM:109650 Behcet syndrome confirmed Behcet disease OMIM:109650 OMIM @@ -66189,8 +64180,6 @@ MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym hemangiomatous b MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome lip pseudocleft-hemangiomatous branchial cyst syndrome OMIM:113620 branchiooculofacial syndrome confirmed lip Pseudocleft-Hemangiomatous branchial cyst syndrome OMIM:113620 OMIM MONDO:0007235 branchiooculofacial syndrome oio:hasExactSynonym BOFS OMIM:113620 branchiooculofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BOFS OMIM:113620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym branchiootorenal syndrome 1 OMIM:113650 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed branchiootorenal syndrome 1 OMIM:113650 OMIM -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym bullous congenital ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 confirmed bullous congenital ichthyosiform erythroderma OMIM:113800 OMIM -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic ichthyosis OMIM:113800 epidermolytic hyperkeratosis 1 confirmed epidermolytic ichthyosis OMIM:113800 OMIM MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym epidermolytic hyperkeratosis epidermolytic hyperkeratosis Epidermolytic hyperkeratosis OMIMPS:113800 Epidermolytic hyperkeratosis confirmed epidermolytic hyperkeratosis OMIMPS:113800 OMIM MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym PFHB1A OMIM:113900 progressive familial heart block, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PFHB1A OMIM:113900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007241 bundle branch block, familial isolated complete right oio:hasExactSynonym bundle branch block, familial isolated complete right OMIM:113950 bundle branch block, familial isolated complete right confirmed bundle branch block, familial isolated complete right OMIM:113950 OMIM @@ -66203,7 +64192,6 @@ MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial o MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset oio:hasExactSynonym basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset confirmed basal ganglia calcification, idiopathic, childhood-onset OMIM:114100 OMIM MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly OMIM:114150 camptobrachydactyly confirmed camptobrachydactyly OMIM:114150 OMIM MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia OMIM:114290 campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed campomelic dysplasia OMIM:114290 OMIM -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD CMD cmd OMIM:123000 craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD OMIM:123000 OMIM MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 confirmed Gordon syndrome OMIM:114300 OMIM MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym cancer, hepatocellular OMIM:114550 hepatocellular carcinoma confirmed cancer, hepatocellular OMIM:114550 OMIM MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma OMIM:114550 hepatocellular carcinoma confirmed hepatocellular carcinoma OMIM:114550 OMIM @@ -66279,16 +64267,12 @@ MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym HMSN1A HM MONDO:0007309 Charcot-Marie-Tooth disease type 1A oio:hasExactSynonym CMT1A OMIM:118220 charcot-marie-tooth disease, demyelinating, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT1A OMIM:118220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type oio:hasExactSynonym Charcot-Marie-Tooth disease, Guadalajara neuronal type Charcot-Marie-Tooth disease, Guadalajara neuronal type charcot-marie-tooth disease, guadalajara neuronal type OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal type confirmed Charcot-Marie-Tooth disease, Guadalajara neuronal type OMIM:118230 OMIM MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness confirmed Charcot-Marie-Tooth disease and deafness OMIM:118300 OMIM -MONDO:0007311 Charcot-Marie-Tooth disease type 1E oio:hasExactSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers confirmed Charcot-Marie-Tooth disease and deafness OMIM:214370 OMIM MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism oio:hasExactSynonym Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism charcot-marie-tooth disease with ptosis and parkinsonism OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism confirmed Charcot-Marie-Tooth disease with ptosis and parkinsonism OMIM:118301 OMIM MONDO:0007313 cheilitis glandularis oio:hasExactSynonym cheilitis glandularis OMIM:118330 cheilitis glandularis confirmed cheilitis glandularis OMIM:118330 OMIM MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas oio:hasExactSynonym chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas confirmed chemodectoma, intraabdominal, with cutaneous angiolipomas OMIM:118350 OMIM MONDO:0007315 cherubism oio:hasExactSynonym cherubism OMIM:118400 cherubism confirmed cherubism OMIM:118400 OMIM MONDO:0007315 cherubism oio:hasExactSynonym CRBM CRBM crbm OMIM:118400 cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CRBM OMIM:118400 OMIM MONDO:0007316 Chiari malformation type I oio:hasExactSynonym Chiari malformation type 1 Chiari malformation type 1 chiari malformation type 1 OMIM:118420 chiari malformation type 1 confirmed Chiari malformation type 1 OMIM:118420 OMIM -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome Alagille syndrome alagille syndrome OMIM:118450 alagille syndrome 1 confirmed Alagille syndrome OMIM:118450 OMIM -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome Alagille-Watson syndrome alagille-watson syndrome OMIM:118450 alagille syndrome 1 confirmed Alagille-Watson syndrome OMIM:118450 OMIM -MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia Arteriohepatic dysplasia arteriohepatic dysplasia OMIM:118450 alagille syndrome 1 confirmed Arteriohepatic dysplasia OMIM:118450 OMIM MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome OMIMPS:118450 Alagille syndrome confirmed Alagille syndrome OMIMPS:118450 OMIM MONDO:0007319 chondrocalcinosis 2 oio:hasExactSynonym chondrocalcinosis 2 OMIM:118600 chondrocalcinosis 2 confirmed chondrocalcinosis 2 OMIM:118600 OMIM MONDO:0007320 chondrocalcinosis due to apatite crystal deposition oio:hasExactSynonym chondrocalcinosis due to apatite crystal deposition OMIM:118610 chondrocalcinosis due to apatite crystal deposition confirmed chondrocalcinosis due to apatite crystal deposition OMIM:118610 OMIM @@ -66297,7 +64281,6 @@ MONDO:0007323 Chondronectin oio:hasExactSynonym Chondronectin Chondronectin cho MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym choreoathetosis, familial inverted OMIM:118750 choreoathetosis, familial inverted confirmed choreoathetosis, familial inverted OMIM:118750 OMIM MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase confirmed chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 OMIM MONDO:0007328 choroidal osteoma, bilateral oio:hasExactSynonym choroidal osteoma, bilateral OMIM:118865 choroidal osteoma, bilateral confirmed choroidal osteoma, bilateral OMIM:118865 OMIM -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial confirmed cirrhosis, familial OMIM:118900 OMIM MONDO:0007329 cirrhosis, familial oio:hasExactSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial confirmed cirrhosis, familial OMIM:215600 OMIM MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym split-hand/foot malformation with long bone deficiency 1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 confirmed split-hand/foot malformation with long bone deficiency 1 OMIM:119100 OMIM MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym SHFLD1 OMIM:119100 split-hand/foot malformation with long bone deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SHFLD1 OMIM:119100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -66307,8 +64290,6 @@ MONDO:0007335 orofacial cleft 1 oio:hasExactSynonym OFC1 OMIM:119530 orofacia MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym CPLS syndrome CPLS syndrome cpls syndrome OMIM:119550 syngnathia confirmed CPLS syndrome OMIM:119550 OMIM MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym cleft palate-lateral synechia syndrome OMIM:119550 syngnathia confirmed cleft palate-lateral synechia syndrome OMIM:119550 OMIM MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate OMIM:119570 cleft soft palate confirmed cleft soft palate OMIM:119570 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 confirmed BCD syndrome OMIM:119580 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome OMIM:119580 blepharocheilodontic syndrome 1 confirmed blepharocheilodontic syndrome OMIM:119580 OMIM MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome confirmed blepharocheilodontic syndrome OMIMPS:119580 OMIM MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym cleidocranial dysostosis OMIM:119600 cleidocranial dysplasia 1 confirmed cleidocranial dysostosis OMIM:119600 OMIM MONDO:0007341 cleidorhizomelic syndrome oio:hasExactSynonym cleidorhizomelic syndrome OMIM:119650 cleidorhizomelic syndrome confirmed cleidorhizomelic syndrome OMIM:119650 OMIM @@ -66348,7 +64329,6 @@ MONDO:0007375 epithelial basement membrane dystrophy oio:hasExactSynonym EBMD MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym fleck corneal dystrophy OMIM:121850 corneal dystrophy, fleck confirmed fleck corneal dystrophy OMIM:121850 OMIM MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym Maumenee corneal dystrophy Maumenee corneal dystrophy maumenee corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 confirmed Maumenee corneal dystrophy OMIM:122000 OMIM MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym PPCD1 Ppcd1 PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym Meesmann corneal dystrophy Meesmann corneal dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 confirmed Meesmann corneal dystrophy OMIM:122100 OMIM MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym epithelial recurrent erosion dystrophy OMIM:122400 epithelial recurrent erosion dystrophy confirmed epithelial recurrent erosion dystrophy OMIM:122400 OMIM MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym ERED OMIM:122400 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ERED OMIM:122400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007382 Ramos-Arroyo syndrome oio:hasExactSynonym Ramos-Arroyo syndrome Ramos-Arroyo syndrome ramos-arroyo syndrome OMIM:122430 ramos-arroyo syndrome confirmed Ramos-Arroyo syndrome OMIM:122430 OMIM @@ -66357,7 +64337,6 @@ MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym scoliosis, congen MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylocostal dysostosis 5 OMIM:122600 spondylocostal dysostosis 5 confirmed spondylocostal dysostosis 5 OMIM:122600 OMIM MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed spondylothoracic dysostosis OMIM:122600 OMIM MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym SCDO5 OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCDO5 OMIM:122600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed spondylothoracic dysostosis OMIM:277300 OMIM MONDO:0007390 coumarin resistance oio:hasExactSynonym coumarin resistance OMIM:122700 coumarin resistance confirmed coumarin resistance OMIM:122700 OMIM MONDO:0007391 coxa vara oio:hasExactSynonym coxa vara OMIM:122750 coxa vara confirmed coxa vara OMIM:122750 OMIM MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome OMIM:122780 coxoauricular syndrome confirmed coxoauricular syndrome OMIM:122780 OMIM @@ -66398,9 +64377,7 @@ MONDO:0007426 deafness, unilateral oio:hasExactSynonym deafness, unilateral O MONDO:0007427 deafness with anhidrotic ectodermal dysplasia oio:hasExactSynonym deafness with anhidrotic ectodermal dysplasia OMIM:125050 deafness with anhidrotic ectodermal dysplasia confirmed deafness with anhidrotic ectodermal dysplasia OMIM:125050 OMIM MONDO:0007428 deafness-craniofacial syndrome oio:hasExactSynonym deafness-craniofacial syndrome OMIM:125230 deafness-craniofacial syndrome confirmed deafness-craniofacial syndrome OMIM:125230 OMIM MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy confirmed optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 OMIM -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym optic atrophy plus syndrome OMIM:258501 3-methylglutaconic aciduria, type 3 confirmed optic atrophy plus syndrome OMIM:258501 OMIM MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus OMIM:125280 dens evaginatus confirmed dens evaginatus OMIM:125280 OMIM -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym CADASIL CADASIL cadasil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CADASIL OMIM:125310 OMIM MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 OMIM MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques oio:hasExactSynonym dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-alzheimer amyloid plaques OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques confirmed dementia/parkinsonism with non-Alzheimer amyloid plaques OMIM:125320 OMIM MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym primary retention of teeth OMIM:125350 failure of tooth eruption, primary confirmed primary retention of teeth OMIM:125350 OMIM @@ -66442,14 +64419,8 @@ MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym Doyne honey MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym DHRD OMIM:126600 doyne honeycomb retinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DHRD OMIM:126600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007472 basal laminar drusen oio:hasExactSynonym basal laminar drusen OMIM:126700 basal laminar drusen confirmed basal laminar drusen OMIM:126700 OMIM MONDO:0007472 basal laminar drusen oio:hasExactSynonym drusen of Bruch membrane drusen of Bruch membrane drusen of bruch membrane OMIM:126700 basal laminar drusen confirmed drusen of Bruch membrane OMIM:126700 OMIM -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 confirmed Duane syndrome OMIM:126800 OMIM -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym DRS DRS drs OMIM:126800 duane retraction syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DRS OMIM:126800 OMIM MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym Duane retraction syndrome OMIMPS:126800 Duane retraction syndrome confirmed Duane retraction syndrome OMIMPS:126800 OMIM MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction oio:hasExactSynonym duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral G-cell hyperfunction duodenal ulcer due to antral g-cell hyperfunction OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction confirmed duodenal ulcer due to antral G-cell hyperfunction OMIM:126840 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym Dolichospondylic dysplasia Dolichospondylic dysplasia dolichospondylic dysplasia OMIM:273750 three m syndrome 1 confirmed Dolichospondylic dysplasia OMIM:273750 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym Le Merrer syndrome Le Merrer syndrome le merrer syndrome OMIM:273750 three m syndrome 1 confirmed Le Merrer syndrome OMIM:273750 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym dolichospondylic dysplasia OMIM:273750 three m syndrome 1 confirmed dolichospondylic dysplasia OMIM:273750 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym gloomy face syndrome OMIM:273750 three m syndrome 1 confirmed gloomy face syndrome OMIM:273750 OMIM MONDO:0007477 3-M syndrome oio:hasExactSynonym Three M Syndrome Three M Syndrome Three M syndrome OMIMPS:273750 Three M syndrome confirmed Three M Syndrome OMIMPS:273750 OMIM MONDO:0007477 3-M syndrome oio:hasExactSynonym three M syndrome three M syndrome Three M syndrome OMIMPS:273750 Three M syndrome confirmed three M syndrome OMIMPS:273750 OMIM MONDO:0007479 dwarfism, Levi type oio:hasExactSynonym dwarfism, Levi type dwarfism, Levi type dwarfism, levi type OMIM:127100 dwarfism, levi type confirmed dwarfism, Levi type OMIM:127100 OMIM @@ -66632,7 +64603,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym CAKUT with MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 renal cysts and diabetes syndrome confirmed congenital anomalies of the kidney and urinary tract with diabetes OMIM:137920 OMIM MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym renal cysts and diabetes syndrome OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed renal cysts and diabetes syndrome OMIM:137920 OMIM MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym RCAD OMIM:137920 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCAD OMIM:137920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym fibronectin glomerulopathy OMIM:601894 glomerulopathy with fibronectin deposits 2 confirmed fibronectin glomerulopathy OMIM:601894 OMIM MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym glomerulopathy with fibronectin deposits glomerulopathy with fibronectin deposits Glomerulopathy with fibronectin deposits OMIMPS:137950 Glomerulopathy with fibronectin deposits confirmed glomerulopathy with fibronectin deposits OMIMPS:137950 OMIM MONDO:0007672 glomuvenous malformation oio:hasExactSynonym Venous malformations with glomus cells Venous malformations with glomus cells venous malformations with glomus cells OMIM:138000 glomuvenous malformations confirmed Venous malformations with glomus cells OMIM:138000 OMIM MONDO:0007673 Glucoglycinuria oio:hasExactSynonym Glucoglycinuria Glucoglycinuria glucoglycinuria OMIM:138070 glucoglycinuria confirmed Glucoglycinuria OMIM:138070 OMIM @@ -66704,7 +64674,6 @@ MONDO:0007733 holoprosencephaly 3 oio:hasExactSynonym HPE3 OMIM:142945 holopr MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym holoprosencephaly 4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed holoprosencephaly 4 OMIM:142946 OMIM MONDO:0007734 holoprosencephaly 4 oio:hasExactSynonym HPE4 OMIM:142946 holoprosencephaly 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HPE4 OMIM:142946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis confirmed humeroradial synostosis OMIM:143050 OMIM -MONDO:0007737 humeroradial synostosis oio:hasExactSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis confirmed humeroradial synostosis OMIM:236400 OMIM MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym Humerospinal dysostosis Humerospinal dysostosis humerospinal dysostosis OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations confirmed Humerospinal dysostosis OMIM:143095 OMIM MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym chondrodysplasia with multiple dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations confirmed chondrodysplasia with multiple dislocations OMIM:143095 OMIM MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations confirmed spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 OMIM @@ -66723,7 +64692,6 @@ MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipopr MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2A hyperlipoproteinemia, type 2a OMIM:143890 hypercholesterolemia, familial, 1 confirmed hyperlipoproteinemia, type 2A OMIM:143890 OMIM MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial, 1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hypercholesterolemia, familial, 1 OMIM:143890 OMIM MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym FHCL1 OMIM:143890 hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHCL1 OMIM:143890 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007750 hypercholesterolemia, familial, 1 oio:hasExactSynonym hypercholesterolemia, familial hypercholesterolemia, familial Hypercholesterolemia, familial OMIMPS:143890 Hypercholesterolemia, familial confirmed hypercholesterolemia, familial OMIMPS:143890 OMIM MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, familial, 2 confirmed hypercholesterolemia, familial, 2 OMIM:144010 OMIM MONDO:0007751 hypercholesterolemia, autosomal dominant, type B oio:hasExactSynonym hypercholesterolemia, autosomal dominant, type B OMIM:144010 hypercholesterolemia, familial, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hypercholesterolemia, autosomal dominant, type B OMIM:144010 OMIM MONDO:0007752 hyperheparinemia oio:hasExactSynonym hyperheparinemia OMIM:144050 hyperheparinemia confirmed hyperheparinemia OMIM:144050 OMIM @@ -66853,10 +64821,6 @@ MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym hyperekplexia 1 OMIM:149400 MONDO:0007868 hyperekplexia 1 oio:hasExactSynonym HKPX1 OMIM:149400 hyperekplexia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HKPX1 OMIM:149400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007869 Kyrle disease oio:hasExactSynonym Kyrle disease Kyrle disease kyrle disease OMIM:149500 kyrle disease confirmed Kyrle disease OMIM:149500 OMIM MONDO:0007870 labia minora, incomplete adhesion of oio:hasExactSynonym labia minora, incomplete adhesion of OMIM:149600 labia minora, incomplete adhesion of confirmed labia minora, incomplete adhesion of OMIM:149600 OMIM -MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 confirmed LACRIMOAURICULODENTODIGITAL syndrome OMIM:149730 OMIM -MONDO:0007872 LADD syndrome oio:hasExactSynonym LADD syndrome LADD syndrome ladd syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 confirmed LADD syndrome OMIM:149730 OMIM -MONDO:0007872 LADD syndrome oio:hasExactSynonym Levy-Hollister syndrome Levy-Hollister syndrome levy-hollister syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 confirmed Levy-Hollister syndrome OMIM:149730 OMIM -MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome OMIM:149730 lacrimoauriculodentodigital syndrome 1 confirmed lacrimoauriculodentodigital syndrome OMIM:149730 OMIM MONDO:0007872 LADD syndrome oio:hasExactSynonym LACRIMOAURICULODENTODIGITAL syndrome LACRIMOAURICULODENTODIGITAL syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome confirmed LACRIMOAURICULODENTODIGITAL syndrome OMIMPS:149730 OMIM MONDO:0007872 LADD syndrome oio:hasExactSynonym lacrimoauriculodentodigital syndrome lacrimoauriculodentodigital syndrome Lacrimoauriculodentodigital syndrome OMIMPS:149730 Lacrimoauriculodentodigital syndrome confirmed lacrimoauriculodentodigital syndrome OMIMPS:149730 OMIM MONDO:0007873 lactic acidosis, chronic adult form oio:hasExactSynonym lactic acidosis, chronic adult form OMIM:150170 lactic acidosis, chronic adult form confirmed lactic acidosis, chronic adult form OMIM:150170 OMIM @@ -66918,7 +64882,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym Best macular MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym macular degeneration, polymorphic vitelline OMIM:153700 macular dystrophy, vitelliform, 2 confirmed macular degeneration, polymorphic vitelline OMIM:153700 OMIM MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, early-onset OMIM:153700 macular dystrophy, vitelliform, 2 confirmed vitelliform macular dystrophy, early-onset OMIM:153700 OMIM MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy, juvenile-onset OMIM:153700 macular dystrophy, vitelliform, 2 confirmed vitelliform macular dystrophy, juvenile-onset OMIM:153700 OMIM -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD OMIM:300376 muscular dystrophy, becker type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD OMIM:300376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007932 age related macular degeneration 2 oio:hasExactSynonym ARMD2 OMIM:153800 macular degeneration, age-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARMD2 OMIM:153800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007933 vitelliform macular dystrophy 1 oio:hasExactSynonym VMD1 OMIM:153840 macular dystrophy, vitelliform, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VMD1 OMIM:153840 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007934 benign concentric annular macular dystrophy oio:hasExactSynonym retinitis pigmentosa 91 OMIM:153870 retinitis pigmentosa 91 confirmed retinitis pigmentosa 91 OMIM:153870 OMIM @@ -66956,7 +64919,6 @@ MONDO:0007959 medulloblastoma oio:hasExactSynonym medulloblastoma OMIM:155255 MONDO:0007961 megalencephaly, autosomal dominant oio:hasExactSynonym megalencephaly, autosomal dominant OMIM:155350 megalencephaly, autosomal dominant confirmed megalencephaly, autosomal dominant OMIM:155350 OMIM MONDO:0007962 megalodactyly oio:hasExactSynonym Megalodactyly Megalodactyly megalodactyly OMIM:155500 macrodactyly confirmed Megalodactyly OMIM:155500 OMIM MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 confirmed melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 OMIM -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym B-K Mole syndrome B-K Mole syndrome b-k mole syndrome OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 confirmed B-K Mole syndrome OMIM:155600 OMIM MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 confirmed melanoma, cutaneous malignant, susceptibility to, 2 OMIM:155601 OMIM MONDO:0007965 melanoma, malignant familial intraocular oio:hasExactSynonym melanoma, malignant familial intraocular OMIM:155700 melanoma, malignant familial intraocular confirmed melanoma, malignant familial intraocular OMIM:155700 OMIM MONDO:0007967 melanoma and neural system tumor syndrome oio:hasExactSynonym melanoma and neural system tumor syndrome OMIM:155755 melanoma-astrocytoma syndrome confirmed melanoma and neural system tumor syndrome OMIM:155755 OMIM @@ -67029,7 +64991,6 @@ MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym ataxia-pancytope MONDO:0008038 ataxia-pancytopenia syndrome oio:hasExactSynonym myelocerebellar disorder OMIM:159550 ataxia-pancytopenia syndrome confirmed myelocerebellar disorder OMIM:159550 OMIM MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient abnormal myelopoiesis OMIM:159595 myeloproliferative syndrome, transient confirmed transient abnormal myelopoiesis OMIM:159595 OMIM MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym MST MST mst OMIM:159595 myeloproliferative syndrome, transient http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MST OMIM:159595 OMIM -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD OMIM:600334 tibial muscular dystrophy, tardive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD OMIM:600334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008041 myoclonic epilepsy, Hartung type oio:hasExactSynonym myoclonic epilepsy, Hartung type myoclonic epilepsy, Hartung type myoclonic epilepsy, hartung type OMIM:159600 myoclonic epilepsy, hartung type confirmed myoclonic epilepsy, Hartung type OMIM:159600 OMIM MONDO:0008046 autosomal dominant myoglobinuria oio:hasExactSynonym myoglobinuria, autosomal dominant OMIM:160010 myoglobinuria, autosomal dominant confirmed myoglobinuria, autosomal dominant OMIM:160010 OMIM MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia OMIM:160120 episodic ataxia, type 1 confirmed episodic ataxia with myokymia OMIM:160120 OMIM @@ -67040,7 +65001,6 @@ MONDO:0008048 autosomal dominant centronuclear myopathy oio:hasExactSynonym CNM MONDO:0008049 myopathy, distal, infantile-onset oio:hasExactSynonym myopathy, distal, infantile-onset OMIM:160300 myopathy, distal, infantile-onset confirmed myopathy, distal, infantile-onset OMIM:160300 OMIM MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym Laing distal myopathy Laing distal myopathy laing distal myopathy OMIM:160500 myopathy, distal, 1 confirmed Laing distal myopathy OMIM:160500 OMIM MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 OMIM:160500 myopathy, distal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPD1 OMIM:160500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed tubular aggregate myopathy OMIM:160565 OMIM MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans oio:hasExactSynonym myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and glycosaminoglycans OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans confirmed myopathy with storage of glycoproteins and Glycosaminoglycans OMIM:160570 OMIM MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym myopia 2, autosomal dominant OMIM:160700 myopia 2, autosomal dominant confirmed myopia 2, autosomal dominant OMIM:160700 OMIM MONDO:0008053 myopia 2, autosomal dominant oio:hasExactSynonym MYP2 OMIM:160700 myopia 2, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MYP2 OMIM:160700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -67049,7 +65009,6 @@ MONDO:0008055 myotonia congenita, autosomal dominant oio:hasExactSynonym myoton MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Steinert disease steinert disease OMIM:160900 myotonic dystrophy 1 confirmed Steinert disease OMIM:160900 OMIM MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica OMIM:160900 myotonic dystrophy 1 confirmed dystrophia myotonica OMIM:160900 OMIM MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym DM1 OMIM:160900 myotonic dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DM1 OMIM:160900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy OMIMPS:160900 Myotonic dystrophy confirmed Myotonic Dystrophy OMIMPS:160900 OMIM MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym Carney complex, type 1 Carney complex, type 1 carney complex, type 1 OMIM:160980 carney complex, type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Carney complex, type 1 OMIM:160980 OMIM MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome NFJ syndrome nfj syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome confirmed NFJ syndrome OMIM:161000 OMIM MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym Naegeli syndrome Naegeli syndrome naegeli syndrome OMIM:161000 naegeli-franceschetti-jadassohn syndrome confirmed Naegeli syndrome OMIM:161000 OMIM @@ -67119,10 +65078,8 @@ MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentodigital MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym oculodentoosseous dysplasia OMIM:164200 oculodentodigital dysplasia confirmed oculodentoosseous dysplasia OMIM:164200 OMIM MONDO:0008111 oculodentodigital dysplasia oio:hasExactSynonym odd syndrome OMIM:164200 oculodentodigital dysplasia confirmed odd syndrome OMIM:164200 OMIM MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym Schilbach-Rott syndrome Schilbach-Rott syndrome schilbach-rott syndrome OMIM:164220 schilbach-rott syndrome confirmed Schilbach-Rott syndrome OMIM:164220 OMIM -MONDO:0008113 Schilbach-Rott syndrome oio:hasExactSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008114 obsessive-compulsive disorder oio:hasExactSynonym obsessive-compulsive disorder OMIM:164230 obsessive-compulsive disorder confirmed obsessive-compulsive disorder OMIM:164230 OMIM MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym FGLDS1 OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FGLDS1 OMIM:164280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym muscular dystrophy, oculopharyngeal OMIM:164300 oculopharyngeal muscular dystrophy 1 confirmed muscular dystrophy, oculopharyngeal OMIM:164300 OMIM MONDO:0008116 oculopharyngeal muscular dystrophy oio:hasExactSynonym oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy OMIMPS:164300 Oculopharyngeal muscular dystrophy confirmed oculopharyngeal muscular dystrophy OMIMPS:164300 OMIM MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym SCA1 Sca1 SCA1 OMIM:164400 spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA1 OMIM:164400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair oio:hasExactSynonym onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair confirmed onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM:164680 OMIM @@ -67142,7 +65099,6 @@ MONDO:0008139 OSLAM syndrome oio:hasExactSynonym OSLAM syndrome OSLAM syndrome MONDO:0008140 ossified ear cartilages oio:hasExactSynonym ossified ear cartilages OMIM:165670 ossified ear cartilages confirmed ossified ear cartilages OMIM:165670 OMIM MONDO:0008141 ossicular malformations, familial oio:hasExactSynonym ossicular malformations, familial OMIM:165680 ossicular malformations, familial confirmed ossicular malformations, familial OMIM:165680 OMIM MONDO:0008143 osteoarthritis susceptibility 1 oio:hasExactSynonym osteoarthritis susceptibility 1 OMIM:165720 osteoarthritis susceptibility 1 confirmed osteoarthritis susceptibility 1 OMIM:165720 OMIM -MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 confirmed osteochondromatosis OMIM:133700 OMIM MONDO:0008145 Ollier disease oio:hasExactSynonym Ollier disease Ollier disease ollier disease OMIM:166000 enchondromatosis, multiple, ollier type confirmed Ollier disease OMIM:166000 OMIM MONDO:0008145 Ollier disease oio:hasExactSynonym dyschondroplasia OMIM:166000 enchondromatosis, multiple, ollier type confirmed dyschondroplasia OMIM:166000 OMIM MONDO:0008145 Ollier disease oio:hasExactSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type confirmed osteochondromatosis OMIM:166000 OMIM @@ -67229,7 +65185,6 @@ MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym HYPP OMIM:1 MONDO:0008225 normokalemic periodic paralysis oio:hasExactSynonym normokalemic periodic paralysis OMIM:170600 normokalemic periodic paralysis confirmed normokalemic periodic paralysis OMIM:170600 OMIM MONDO:0008227 peripheral dysostosis oio:hasExactSynonym peripheral dysostosis OMIM:170700 peripheral dysostosis confirmed peripheral dysostosis OMIM:170700 OMIM MONDO:0008228 pernicious anemia oio:hasExactSynonym pernicious anemia OMIM:170900 pernicious anemia confirmed pernicious anemia OMIM:170900 OMIM -MONDO:0008228 pernicious anemia oio:hasExactSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency confirmed intrinsic factor deficiency OMIM:261000 OMIM MONDO:0008229 peroneal nerve, accessory deep oio:hasExactSynonym peroneal nerve, accessory deep OMIM:170980 peroneal nerve, accessory deep confirmed peroneal nerve, accessory deep OMIM:170980 OMIM MONDO:0008230 peroxidase, salivary oio:hasExactSynonym peroxidase, salivary OMIM:170990 peroxidase, salivary confirmed peroxidase, salivary OMIM:170990 OMIM MONDO:0008231 Peyronie disease oio:hasExactSynonym Peyronie disease Peyronie disease peyronie disease OMIM:171000 peyronie disease confirmed Peyronie disease OMIM:171000 OMIM @@ -67330,8 +65285,6 @@ MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym Pseudoachondroplastic dy MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplastic dysplasia OMIM:177170 pseudoachondroplasia confirmed pseudoachondroplastic dysplasia OMIM:177170 OMIM MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia confirmed spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC OMIM:177170 OMIM MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym pseudoachondroplasia OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pseudoachondroplasia OMIM:177170 OMIM -MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 confirmed Liddle syndrome OMIM:177200 OMIM -MONDO:0008323 Liddle syndrome oio:hasExactSynonym pseudoaldosteronism OMIM:177200 liddle syndrome 1 confirmed pseudoaldosteronism OMIM:177200 OMIM MONDO:0008323 Liddle syndrome oio:hasExactSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome confirmed Liddle syndrome OMIMPS:177200 OMIM MONDO:0008324 pseudoarthrogryposis oio:hasExactSynonym pseudoarthrogryposis OMIM:177300 pseudoarthrogryposis confirmed pseudoarthrogryposis OMIM:177300 OMIM MONDO:0008325 Pseudoatrophoderma colli oio:hasExactSynonym Pseudoatrophoderma colli Pseudoatrophoderma colli pseudoatrophoderma colli OMIM:177350 pseudoatrophoderma colli confirmed Pseudoatrophoderma colli OMIM:177350 OMIM @@ -67389,9 +65342,6 @@ MONDO:0008391 Robinow-Sorauf syndrome oio:hasExactSynonym Robinow-Sorauf syndro MONDO:0008392 Roussy-Levy syndrome oio:hasExactSynonym Roussy-levy syndrome Roussy-levy syndrome roussy-levy syndrome OMIM:180800 roussy-levy hereditary areflexic dystasia confirmed Roussy-levy syndrome OMIM:180800 OMIM MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome 1 rubinstein-taybi syndrome 1 OMIM:180849 rubinstein-taybi syndrome 1 confirmed Rubinstein-Taybi syndrome 1 OMIM:180849 OMIM MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym RSTS1 OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RSTS1 OMIM:180849 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver Syndrome Russell-Silver Syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 confirmed Russell-Silver Syndrome OMIM:180860 OMIM -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome russell-silver syndrome OMIM:180860 silver-russell syndrome 1 confirmed Russell-Silver syndrome OMIM:180860 OMIM -MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism silver-russell dwarfism OMIM:180860 silver-russell syndrome 1 confirmed Silver-Russell dwarfism OMIM:180860 OMIM MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome OMIMPS:180860 Silver-Russell syndrome confirmed Silver-Russell syndrome OMIMPS:180860 OMIM MONDO:0008395 Ruvalcaba syndrome oio:hasExactSynonym Ruvalcaba syndrome Ruvalcaba syndrome ruvalcaba syndrome OMIM:180870 ruvalcaba syndrome confirmed Ruvalcaba syndrome OMIM:180870 OMIM MONDO:0008396 oculodental syndrome, Rutherfurd type oio:hasExactSynonym Rutherfurd syndrome Rutherfurd syndrome rutherfurd syndrome OMIM:180900 rutherfurd syndrome confirmed Rutherfurd syndrome OMIM:180900 OMIM @@ -67433,7 +65383,6 @@ MONDO:0008423 sinus node disease and myopia oio:hasExactSynonym sinus node dise MONDO:0008424 sella turcica, bridged oio:hasExactSynonym sella turcica, bridged OMIM:182200 sella turcica, bridged confirmed sella turcica, bridged OMIM:182200 OMIM MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Marfanoid craniosynostosis syndrome marfanoid craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome confirmed Marfanoid craniosynostosis syndrome OMIM:182212 OMIM MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS OMIM:269150 OMIM MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym sister chromatid exchange, frequency of OMIM:182220 sister chromatid exchange, frequency of confirmed sister chromatid exchange, frequency of OMIM:182220 OMIM MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septooptic dysplasia OMIM:182230 septooptic dysplasia confirmed septooptic dysplasia OMIM:182230 OMIM MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome OMIMPS:182250 Singleton-Merten syndrome confirmed Singleton-Merten syndrome OMIMPS:182250 OMIM @@ -67515,7 +65464,6 @@ MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSyno MONDO:0008500 striae distensae, familial oio:hasExactSynonym striae distensae, familial OMIM:185200 striae distensae, familial confirmed striae distensae, familial OMIM:185200 OMIM MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber syndrome Sturge-Weber syndrome sturge-weber syndrome OMIM:185300 sturge-weber syndrome confirmed Sturge-Weber syndrome OMIM:185300 OMIM MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SWS OMIM:601559 OMIM MONDO:0008502 sulfhemoglobinemia, congenital oio:hasExactSynonym sulfhemoglobinemia, congenital OMIM:185460 sulfhemoglobinemia, congenital confirmed sulfhemoglobinemia, congenital OMIM:185460 OMIM MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Worster-Drought syndrome worster-drought syndrome OMIM:185480 suprabulbar paresis, congenital confirmed Worster-Drought syndrome OMIM:185480 OMIM MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis OMIM:185500 supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed supravalvular aortic stenosis OMIM:185500 OMIM @@ -67534,7 +65482,6 @@ MONDO:0008519 multiple synostoses syndrome 1 oio:hasExactSynonym multiple synos MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym Liebenberg syndrome Liebenberg syndrome liebenberg syndrome OMIM:186550 liebenberg syndrome confirmed Liebenberg syndrome OMIM:186550 OMIM MONDO:0008521 tarsal-carpal coalition syndrome oio:hasExactSynonym tarsal-carpal coalition syndrome OMIM:186570 tarsal-carpal coalition syndrome confirmed tarsal-carpal coalition syndrome OMIM:186570 OMIM MONDO:0008522 synovial chondromatosis, familial, with dwarfism oio:hasExactSynonym synovial chondromatosis, familial, with dwarfism OMIM:186575 synovial chondromatosis, familial, with dwarfism confirmed synovial chondromatosis, familial, with dwarfism OMIM:186575 OMIM -MONDO:0008523 Blau syndrome oio:hasExactSynonym EOS EOS eos OMIM:131400 eosinophilia, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EOS OMIM:131400 OMIM MONDO:0008523 Blau syndrome oio:hasExactSynonym Jabs syndrome Jabs syndrome jabs syndrome OMIM:186580 blau syndrome confirmed Jabs syndrome OMIM:186580 OMIM MONDO:0008523 Blau syndrome oio:hasExactSynonym arthrocutaneouveal granulomatosis OMIM:186580 blau syndrome confirmed arthrocutaneouveal granulomatosis OMIM:186580 OMIM MONDO:0008523 Blau syndrome oio:hasExactSynonym granulomatosis, familial juvenile systemic OMIM:186580 blau syndrome confirmed granulomatosis, familial juvenile systemic OMIM:186580 OMIM @@ -67600,7 +65547,6 @@ MONDO:0008579 toes, relative length of first and second oio:hasExactSynonym toe MONDO:0008580 toes, space between first and second oio:hasExactSynonym toes, space between first and second OMIM:189230 toes, space between first and second confirmed toes, space between first and second OMIM:189230 OMIM MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia oio:hasExactSynonym malposition of teeth with or without hypodontia/oligodontia OMIM:189490 malposition of teeth with or without hypodontia/oligodontia confirmed malposition of teeth with or without hypodontia/oligodontia OMIM:189490 OMIM MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym Witkop syndrome Witkop syndrome witkop syndrome OMIM:189500 witkop syndrome confirmed Witkop syndrome OMIM:189500 OMIM -MONDO:0008582 tooth and nail syndrome oio:hasExactSynonym HND OMIM:234500 hartnup disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HND OMIM:234500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008583 inherited torticollis oio:hasExactSynonym torticollis OMIM:189600 torticollis confirmed torticollis OMIM:189600 OMIM MONDO:0008584 torus palatinus and torus mandibularis oio:hasExactSynonym torus palatinus and torus mandibularis OMIM:189700 torus palatinus and torus mandibularis confirmed torus palatinus and torus mandibularis OMIM:189700 OMIM MONDO:0008587 tracheobronchopathia osteochondroplastica oio:hasExactSynonym tracheobronchopathia osteochondroplastica OMIM:189961 tracheopathia osteoplastica confirmed tracheobronchopathia osteochondroplastica OMIM:189961 OMIM @@ -67659,7 +65605,6 @@ MONDO:0008649 venular insufficiency, systemic oio:hasExactSynonym venular insuf MONDO:0008651 vertebral hypoplasia with lumbar kyphosis oio:hasExactSynonym vertebral hypoplasia with lumbar kyphosis OMIM:192900 vertebral hypoplasia with lumbar kyphosis confirmed vertebral hypoplasia with lumbar kyphosis OMIM:192900 OMIM MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym vesicoureteral reflux 1 OMIM:193000 vesicoureteral reflux 1 confirmed vesicoureteral reflux 1 OMIM:193000 OMIM MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym VUR1 OMIM:193000 vesicoureteral reflux 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VUR1 OMIM:193000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008653 vesicoureteral reflux 1 oio:hasExactSynonym Vesicoureteral reflux OMIMPS:193000 Vesicoureteral reflux confirmed Vesicoureteral reflux OMIMPS:193000 OMIM MONDO:0008655 vestibulocochlear dysfunction, progressive oio:hasExactSynonym vestibulocochlear dysfunction, progressive OMIM:193005 vestibulocochlear dysfunction, progressive confirmed vestibulocochlear dysfunction, progressive OMIM:193005 OMIM MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym hypophosphatemic rickets, autosomal dominant OMIM:193100 hypophosphatemic rickets, autosomal dominant confirmed hypophosphatemic rickets, autosomal dominant OMIM:193100 OMIM MONDO:0008660 autosomal dominant hypophosphatemic rickets oio:hasExactSynonym ADHR OMIM:193100 hypophosphatemic rickets, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADHR OMIM:193100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -67729,7 +65674,6 @@ MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACLS OMIM:200990 acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACLS OMIM:200990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:200995 acrocephalopolydactylous dysplasia confirmed Elejalde syndrome OMIM:200995 OMIM MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym acrocephalopolydactylous dysplasia OMIM:200995 acrocephalopolydactylous dysplasia confirmed acrocephalopolydactylous dysplasia OMIM:200995 OMIM -MONDO:0008709 acrocephalopolydactyly oio:hasExactSynonym Elejalde syndrome Elejalde syndrome elejalde syndrome OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome confirmed Elejalde syndrome OMIM:256710 OMIM MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym Carpenter syndrome 1 Carpenter syndrome 1 carpenter syndrome 1 OMIM:201000 carpenter syndrome 1 confirmed Carpenter syndrome 1 OMIM:201000 OMIM MONDO:0008711 Goodman syndrome oio:hasExactSynonym ACPS 4 ACPS 4 acps 4 OMIM:201020 acrocephalopolysyndactyly type 4 confirmed ACPS 4 OMIM:201020 OMIM MONDO:0008711 Goodman syndrome oio:hasExactSynonym Goodman syndrome Goodman syndrome goodman syndrome OMIM:201020 acrocephalopolysyndactyly type 4 confirmed Goodman syndrome OMIM:201020 OMIM @@ -67844,7 +65788,6 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym arterial tortuosity syndrome OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed arterial tortuosity syndrome OMIM:208050 OMIM MONDO:0008819 arteriosclerosis, severe juvenile oio:hasExactSynonym arteriosclerosis, severe juvenile OMIM:208060 arteriosclerosis, severe juvenile confirmed arteriosclerosis, severe juvenile OMIM:208060 OMIM MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 OMIM -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence OMIM:208150 fetal akinesia deformation sequence 1 confirmed fetal akinesia deformation sequence OMIM:208150 OMIM MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym fetal akinesia deformation sequence fetal akinesia deformation sequence Fetal akinesia deformation sequence OMIMPS:208150 Fetal akinesia deformation sequence confirmed fetal akinesia deformation sequence OMIMPS:208150 OMIM MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym Illum syndrome Illum syndrome illum syndrome OMIM:208155 illum syndrome confirmed Illum syndrome OMIM:208155 OMIM MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExactSynonym progressive pseudorheumatoid arthropathy of childhood OMIM:208230 progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed progressive pseudorheumatoid arthropathy of childhood OMIM:208230 OMIM @@ -67893,7 +65836,6 @@ MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of oio:hasExactSynony MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency confirmed 3-Methylcrotonyl-Coa carboxylase 1 deficiency OMIM:210200 OMIM MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency oio:hasExactSynonym 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-coa carboxylase 1 deficiency OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM:210200 OMIM MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency confirmed 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM:210210 OMIM -MONDO:0008863 sitosterolemia oio:hasExactSynonym phytosterolemia OMIM:210250 sitosterolemia 1 confirmed phytosterolemia OMIM:210250 OMIM MONDO:0008863 sitosterolemia oio:hasExactSynonym sitosterolemia sitosterolemia Sitosterolemia OMIMPS:210250 Sitosterolemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed sitosterolemia OMIMPS:210250 OMIM MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym Bietti crystalline corneoretinal dystrophy Bietti crystalline corneoretinal dystrophy bietti crystalline corneoretinal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bietti crystalline corneoretinal dystrophy OMIM:210370 OMIM MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym BCD OMIM:210370 bietti crystalline corneoretinal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BCD OMIM:210370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -67974,7 +65916,6 @@ MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz s MONDO:0008931 Cenani-Lenz syndactyly syndrome oio:hasExactSynonym Cenani-Lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome cenani-lenz syndactyly syndrome OMIM:212780 cenani-lenz syndactyly syndrome confirmed Cenani-Lenz syndactyly syndrome OMIM:212780 OMIM MONDO:0008932 premature centromere division oio:hasExactSynonym premature centromere division OMIM:212790 premature centromere division confirmed premature centromere division OMIM:212790 OMIM MONDO:0008932 premature centromere division oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008932 premature centromere division oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD OMIM:244400 OMIM MONDO:0008933 cephalin lipidosis oio:hasExactSynonym cephalin lipidosis OMIM:212800 cephalin lipidosis confirmed cephalin lipidosis OMIM:212800 OMIM MONDO:0008936 cerebellar ataxia and neurosensory deafness oio:hasExactSynonym cerebellar ataxia and neurosensory deafness OMIM:212850 cerebellar ataxia and neurosensory deafness confirmed cerebellar ataxia and neurosensory deafness OMIM:212850 OMIM MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia oio:hasExactSynonym cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia confirmed cerebellar ataxia, benign, with thermoanalgesia OMIM:212890 OMIM @@ -67986,8 +65927,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym Joubert syndrome 1 Joubert MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym JBTS1 OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JBTS1 OMIM:213300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym myoclonus and ataxia OMIM:213400 dyssynergia cerebellaris myoclonica of hunt confirmed myoclonus and ataxia OMIM:213400 OMIM MONDO:0008946 cerebral angiopathy, dysphoric oio:hasExactSynonym cerebral angiopathy, dysphoric OMIM:213500 cerebral angiopathy, dysphoric confirmed cerebral angiopathy, dysphoric OMIM:213500 OMIM -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym Primary Familial Brain Calcification Primary Familial Brain Calcification primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 confirmed Primary Familial Brain Calcification OMIM:213600 OMIM -MONDO:0008947 bilateral striopallidodentate calcinosis oio:hasExactSynonym primary familial brain calcification OMIM:213600 basal ganglia calcification, idiopathic, 1 confirmed primary familial brain calcification OMIM:213600 OMIM MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym cerebrotendinous xanthomatosis OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cerebrotendinous xanthomatosis OMIM:213700 OMIM MONDO:0008948 cerebrotendinous xanthomatosis oio:hasExactSynonym CTX CTx CTX OMIM:213700 cerebrotendinous xanthomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CTX OMIM:213700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers oio:hasExactSynonym cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers confirmed cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820 OMIM @@ -68018,10 +65957,6 @@ MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym p MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 confirmed rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 OMIM MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym RCDP1 Rcdp1 RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym Greenberg dysplasia Greenberg dysplasia greenberg dysplasia OMIM:215140 greenberg dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Greenberg dysplasia OMIM:215140 OMIM -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive confirmed Nance-Insley syndrome OMIM:215150 OMIM -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive confirmed Nance-Sweeney chondrodysplasia OMIM:215150 OMIM -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym chondrodystrophy with sensorineural deafness OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive confirmed chondrodystrophy with sensorineural deafness OMIM:215150 OMIM -MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym OSMED OSMED osmed OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OSMED OMIM:215150 OMIM MONDO:0008975 otospondylomegaepiphyseal dysplasia oio:hasExactSynonym otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia OMIMPS:184840 Otospondylomegaepiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed otospondylomegaepiphyseal dysplasia OMIMPS:184840 OMIM MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome oio:hasExactSynonym chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome confirmed chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250 OMIM MONDO:0008977 chondrosarcoma oio:hasExactSynonym chondrosarcoma OMIM:215300 chondrosarcoma confirmed chondrosarcoma OMIM:215300 OMIM @@ -68075,8 +66010,6 @@ MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym Crane-Heise syndrome Cra MONDO:0009029 cranial nerves, congenital paresis of oio:hasExactSynonym cranial nerves, congenital paresis of OMIM:218100 cranial nerves, congenital paresis of confirmed cranial nerves, congenital paresis of OMIM:218100 OMIM MONDO:0009030 cranial nerves, recurrent paresis of oio:hasExactSynonym cranial nerves, recurrent paresis of OMIM:218200 cranial nerves, recurrent paresis of confirmed cranial nerves, recurrent paresis of OMIM:218200 OMIM MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym craniodiaphyseal dysplasia OMIM:218300 craniodiaphyseal dysplasia confirmed craniodiaphyseal dysplasia OMIM:218300 OMIM -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym CED CED ced OMIM:131300 camurati-engelmann disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CED OMIM:131300 OMIM -MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym Sensenbrenner syndrome Sensenbrenner syndrome sensenbrenner syndrome OMIM:218330 cranioectodermal dysplasia 1 confirmed Sensenbrenner syndrome OMIM:218330 OMIM MONDO:0009032 cranioectodermal dysplasia oio:hasExactSynonym cranioectodermal dysplasia cranioectodermal dysplasia Cranioectodermal dysplasia OMIMPS:218330 Cranioectodermal dysplasia confirmed cranioectodermal dysplasia OMIMPS:218330 OMIM MONDO:0009033 temtamy syndrome oio:hasExactSynonym temtamy syndrome OMIM:218340 temtamy syndrome confirmed temtamy syndrome OMIM:218340 OMIM MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive oio:hasExactSynonym craniometaphyseal dysplasia, autosomal recessive OMIM:218400 craniometaphyseal dysplasia, autosomal recessive confirmed craniometaphyseal dysplasia, autosomal recessive OMIM:218400 OMIM @@ -68085,9 +66018,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym Baller-Gerold syndrome MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome oio:hasExactSynonym craniosynostosis-mental retardation-clefting syndrome OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed craniosynostosis-mental retardation-clefting syndrome OMIM:218650 OMIM MONDO:0009042 craniotelencephalic dysplasia oio:hasExactSynonym craniotelencephalic dysplasia OMIM:218670 craniotelencephalic dysplasia confirmed craniotelencephalic dysplasia OMIM:218670 OMIM MONDO:0009045 cataract-nephropathy-encephalopathy syndrome oio:hasExactSynonym crome syndrome OMIM:218900 crome syndrome confirmed crome syndrome OMIM:218900 OMIM -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 confirmed cryptophthalmos with other malformations OMIM:219000 OMIM -MONDO:0009046 Fraser syndrome oio:hasExactSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 confirmed cryptophthalmos-syndactyly syndrome OMIM:219000 OMIM -MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome Fraser syndrome fraser syndrome OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fraser syndrome OMIM:219000 OMIM MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fraser syndrome OMIMPS:219000 OMIM MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis OMIM:219050 cryptorchidism, unilateral or bilateral confirmed undescended testis OMIM:219050 OMIM MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym curved nail of fourth toe OMIM:219070 curved nail of fourth toe confirmed curved nail of fourth toe OMIM:219070 OMIM @@ -68124,9 +66054,6 @@ MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome oio:hasExa MONDO:0009087 deafness, neural, congenital moderate oio:hasExactSynonym deafness, neural, congenital moderate OMIM:221500 deafness, neural, congenital moderate confirmed deafness, neural, congenital moderate OMIM:221500 OMIM MONDO:0009088 deafness, neural, with atypical atopic dermatitis oio:hasExactSynonym deafness, neural, with atypical atopic dermatitis OMIM:221700 deafness, neural, with atypical atopic dermatitis confirmed deafness, neural, with atypical atopic dermatitis OMIM:221700 OMIM MONDO:0009089 deafness-oligodontia syndrome oio:hasExactSynonym deafness-oligodontia syndrome OMIM:221740 deafness-oligodontia syndrome confirmed deafness-oligodontia syndrome OMIM:221740 OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym Nasu-Hakola disease Nasu-Hakola disease nasu-hakola disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 confirmed Nasu-Hakola disease OMIM:221770 OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym presenile dementia with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 confirmed presenile dementia with bone cysts OMIM:221770 OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym PLOSL PLOSL plosl OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLOSL OMIM:221770 OMIM MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly confirmed polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly OMIMPS:221770 OMIM MONDO:0009093 dermatoleukodystrophy oio:hasExactSynonym Dermatoleukodystrophy Dermatoleukodystrophy dermatoleukodystrophy OMIM:221790 dermatoleukodystrophy confirmed Dermatoleukodystrophy OMIM:221790 OMIM MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym dermochondrocorneal dystrophy OMIM:221800 dermochondrocorneal dystrophy confirmed dermochondrocorneal dystrophy OMIM:221800 OMIM @@ -68180,7 +66107,6 @@ MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym Riley-Day syndrome Riley-D MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 confirmed neuropathy, hereditary sensory and autonomic, type 3 OMIM:223900 OMIM MONDO:0009131 Riley-Day syndrome oio:hasExactSynonym HSAN3 OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSAN3 OMIM:223900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009132 dysautonomia-like disorder oio:hasExactSynonym dysautonomia-like disorder OMIM:224000 dysautonomia-like disorder confirmed dysautonomia-like disorder OMIM:224000 OMIM -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym dysequilibrium syndrome OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 confirmed dysequilibrium syndrome OMIM:224050 OMIM MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium cerebellar ataxia, mental retardation, and dysequilibrium Cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed cerebellar ataxia, mental retardation, and dysequilibrium OMIMPS:224050 OMIM MONDO:0009135 anemia, congenital dyserythropoietic, type 1a oio:hasExactSynonym anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type Ia anemia, congenital dyserythropoietic, type ia OMIM:224120 anemia, congenital dyserythropoietic, type ia confirmed anemia, congenital dyserythropoietic, type Ia OMIM:224120 OMIM MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 oio:hasExactSynonym dyskeratosis congenita, autosomal recessive 1 OMIM:224230 dyskeratosis congenita, autosomal recessive 1 confirmed dyskeratosis congenita, autosomal recessive 1 OMIM:224230 OMIM @@ -68429,7 +66355,6 @@ MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym hydranencephaly with renal aplasia-dysplasia OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly confirmed hydranencephaly with renal aplasia-dysplasia OMIM:236500 OMIM MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 oio:hasExactSynonym hydrocephalus, congenital, 1 OMIM:236600 hydrocephalus, congenital, 1 confirmed hydrocephalus, congenital, 1 OMIM:236600 OMIM MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius confirmed hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 OMIM -MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked confirmed hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 OMIM MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym hydrolethalus syndrome 1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hydrolethalus syndrome 1 OMIM:236680 OMIM MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym Kaufman-Mckusick syndrome Kaufman-Mckusick syndrome kaufman-mckusick syndrome OMIM:236700 mckusick-kaufman syndrome confirmed Kaufman-Mckusick syndrome OMIM:236700 OMIM MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym McKusick-Kaufman syndrome McKusick-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome confirmed McKusick-Kaufman syndrome OMIM:236700 OMIM @@ -68521,8 +66446,6 @@ MONDO:0009453 immune deficiency disease oio:hasExactSynonym immune deficiency d MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 confirmed immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM:242860 OMIM MONDO:0009456 Immunoerythromyeloid hypoplasia oio:hasExactSynonym Immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia immunoerythromyeloid hypoplasia OMIM:242880 immunoerythromyeloid hypoplasia confirmed Immunoerythromyeloid hypoplasia OMIM:242880 OMIM MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia schimke immunoosseous dysplasia OMIM:242900 schimke immunoosseous dysplasia confirmed Schimke immunoosseous dysplasia OMIM:242900 OMIM -MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym Schimke syndrome Schimke syndrome schimke syndrome OMIM:312840 schimke syndrome confirmed Schimke syndrome OMIM:312840 OMIM -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym insensitivity to pain, congenital OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 confirmed insensitivity to pain, congenital OMIM:608654 OMIM MONDO:0009460 indolylacroyl glycinuria with intellectual disability oio:hasExactSynonym indolylacroyl glycinuria with mental retardation OMIM:243050 indolylacroyl glycinuria with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed indolylacroyl glycinuria with mental retardation OMIM:243050 OMIM MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 spermatogenic failure 5 confirmed male infertility with large-headed, multiflagellar, polyploid spermatozoa OMIM:243060 OMIM MONDO:0009461 spermatogenic failure 5 oio:hasExactSynonym spermatogenic failure 5 OMIM:243060 spermatogenic failure 5 confirmed spermatogenic failure 5 OMIM:243060 OMIM @@ -68546,7 +66469,6 @@ MONDO:0009476 atresia of small intestine oio:hasExactSynonym jejunal atresia MONDO:0009477 Stromme syndrome oio:hasExactSynonym Stromme syndrome Stromme syndrome stromme syndrome OMIM:243605 stromme syndrome confirmed Stromme syndrome OMIM:243605 OMIM MONDO:0009477 Stromme syndrome oio:hasExactSynonym apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 stromme syndrome confirmed apple peel syndrome with microcephaly and ocular anomalies OMIM:243605 OMIM MONDO:0009477 Stromme syndrome oio:hasExactSynonym jejunal atresia with microcephaly and ocular anomalies OMIM:243605 stromme syndrome confirmed jejunal atresia with microcephaly and ocular anomalies OMIM:243605 OMIM -MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym Johanson-Blizzard syndrome Johanson-Blizzard syndrome johanson-blizzard syndrome OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Johanson-Blizzard syndrome OMIM:243800 OMIM MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym Arima syndrome Arima syndrome arima syndrome OMIM:243910 arima syndrome confirmed Arima syndrome OMIM:243910 OMIM @@ -68581,9 +66503,7 @@ MONDO:0009507 Lambert syndrome oio:hasExactSynonym Lambert syndrome Lambert syn MONDO:0009508 Lambotte syndrome oio:hasExactSynonym Lambotte syndrome Lambotte syndrome lambotte syndrome OMIM:245552 lambotte syndrome confirmed Lambotte syndrome OMIM:245552 OMIM MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development confirmed epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 OMIM MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous confirmed logic syndrome OMIM:245660 OMIM -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS OMIM:130720 OMIM MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Laurence-Moon syndrome laurence-moon syndrome OMIM:245800 laurence-moon syndrome confirmed Laurence-Moon syndrome OMIM:245800 OMIM -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Norum disease norum disease OMIM:245900 lecithin:cholesterol acyltransferase deficiency confirmed Norum disease OMIM:245900 OMIM MONDO:0009515 Norum disease oio:hasExactSynonym lecithin:cholesterol acyltransferase deficiency OMIM:245900 lecithin:cholesterol acyltransferase deficiency confirmed lecithin:cholesterol acyltransferase deficiency OMIM:245900 OMIM MONDO:0009517 Donohue syndrome oio:hasExactSynonym Donohue syndrome Donohue syndrome donohue syndrome OMIM:246200 donohue syndrome confirmed Donohue syndrome OMIM:246200 OMIM @@ -68616,7 +66536,6 @@ MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblast MONDO:0009537 lymphoid interstitial pneumonia oio:hasExactSynonym lymphoid interstitial pneumonia OMIM:247610 lymphoid interstitial pneumonia confirmed lymphoid interstitial pneumonia OMIM:247610 OMIM MONDO:0009538 lymphoid system deterioration, progressive oio:hasExactSynonym lymphoid system deterioration, progressive OMIM:247630 lymphoid system deterioration, progressive confirmed lymphoid system deterioration, progressive OMIM:247630 OMIM MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features confirmed lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640 OMIM -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features oio:hasExactSynonym leukemia, acute lymphoblastic OMIM:613065 leukemia, acute lymphoblastic confirmed leukemia, acute lymphoblastic OMIM:613065 OMIM MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency oio:hasExactSynonym lymphokine deficiency OMIM:247650 lymphokine deficiency confirmed lymphokine deficiency OMIM:247650 OMIM MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis oio:hasExactSynonym lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis confirmed lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis OMIM:247800 OMIM MONDO:0009542 lysine malabsorption syndrome oio:hasExactSynonym lysine malabsorption syndrome OMIM:247950 lysine malabsorption syndrome confirmed lysine malabsorption syndrome OMIM:247950 OMIM @@ -68643,9 +66562,6 @@ MONDO:0009562 beta-mannosidosis oio:hasExactSynonym Beta-mannosidase deficiency MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal confirmed beta-mannosidase deficiency OMIM:248510 OMIM MONDO:0009562 beta-mannosidosis oio:hasExactSynonym beta-mannosidosis OMIM:248510 mannosidosis, beta a, lysosomal confirmed beta-mannosidosis OMIM:248510 OMIM MONDO:0009562 beta-mannosidosis oio:hasExactSynonym lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal confirmed lysosomal beta-mannosidase deficiency OMIM:248510 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym BCKD deficiency BCKD deficiency bckd deficiency OMIM:248600 maple syrup urine disease, type 1a confirmed BCKD deficiency OMIM:248600 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym branched-chain ketoaciduria OMIM:248600 maple syrup urine disease, type 1a confirmed branched-chain ketoaciduria OMIM:248600 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease OMIM:248600 maple syrup urine disease, type 1a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed maple syrup urine disease OMIM:248600 OMIM MONDO:0009563 maple syrup urine disease oio:hasExactSynonym maple syrup urine disease maple syrup urine disease Maple syrup urine disease OMIMPS:248600 Maple syrup urine disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed maple syrup urine disease OMIMPS:248600 OMIM MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym Marden-Walker syndrome Marden-Walker syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome confirmed Marden-Walker syndrome OMIM:248700 OMIM MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome marinesco-sjogren syndrome OMIM:248800 marinesco-sjogren syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Marinesco-Sjogren syndrome OMIM:248800 OMIM @@ -68665,7 +66581,6 @@ MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSyno MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym thiamine-responsive myelodysplasia OMIM:249270 thiamine-responsive megaloblastic anemia syndrome confirmed thiamine-responsive myelodysplasia OMIM:249270 OMIM MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome oio:hasExactSynonym TRMA OMIM:249270 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TRMA OMIM:249270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:249300 megalocornea confirmed megalocornea OMIM:249300 OMIM -MONDO:0009576 megalocornea oio:hasExactSynonym megalocornea OMIM:309300 megalocornea confirmed megalocornea OMIM:309300 OMIM MONDO:0009577 megalocornea-intellectual disability syndrome oio:hasExactSynonym MMR syndrome MMR syndrome mmr syndrome OMIM:249310 neuhauser syndrome confirmed MMR syndrome OMIM:249310 OMIM MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Borrone Dermatocardioskeletal syndrome Borrone Dermatocardioskeletal syndrome borrone dermatocardioskeletal syndrome OMIM:249420 frank-ter haar syndrome confirmed Borrone Dermatocardioskeletal syndrome OMIM:249420 OMIM MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym Frank-Ter Haar syndrome Frank-Ter Haar syndrome frank-ter haar syndrome OMIM:249420 frank-ter haar syndrome confirmed Frank-Ter Haar syndrome OMIM:249420 OMIM @@ -68690,7 +66605,6 @@ MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-coa hydrolase deficiency OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620 OMIM MONDO:0009604 methemoglobin reductase deficiency oio:hasExactSynonym methemoglobin reductase deficiency OMIM:250700 methemoglobin reductase deficiency confirmed methemoglobin reductase deficiency OMIM:250700 OMIM MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase oio:hasExactSynonym methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase confirmed methemoglobinemia due to deficiency of methemoglobin reductase OMIM:250800 OMIM -MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria confirmed MAT deficiency OMIM:203750 OMIM MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT I/III deficiency MAT I/III deficiency mat i/iii deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency confirmed MAT I/III deficiency OMIM:250850 OMIM MONDO:0009607 methionine adenosyltransferase deficiency oio:hasExactSynonym MAT deficiency MAT deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency confirmed MAT deficiency OMIM:250850 OMIM MONDO:0009608 methionine malabsorption syndrome oio:hasExactSynonym methionine malabsorption syndrome OMIM:250900 methionine malabsorption syndrome confirmed methionine malabsorption syndrome OMIM:250900 OMIM @@ -68708,15 +66622,8 @@ MONDO:0009619 microcephaly-micromelia syndrome oio:hasExactSynonym microcephaly MONDO:0009622 Jawad syndrome oio:hasExactSynonym Jawad syndrome Jawad syndrome jawad syndrome OMIM:251255 jawad syndrome confirmed Jawad syndrome OMIM:251255 OMIM MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym Nijmegen breakage syndrome Nijmegen breakage syndrome nijmegen breakage syndrome OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Nijmegen breakage syndrome OMIM:251260 OMIM MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome confirmed NBs OMIM:601358 OMIM -MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym Pseudotoxoplasmosis syndrome Pseudotoxoplasmosis syndrome pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 confirmed Pseudotoxoplasmosis syndrome OMIM:225750 OMIM MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym DMJDS1 OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DMJDS1 OMIM:251280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria OMIM:251290 pseudo-torch syndrome 1 confirmed band-like calcification with simplified gyration and polymicrogyria OMIM:251290 OMIM -MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 confirmed pseudo-TORCH syndrome OMIM:251290 OMIM MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome confirmed pseudo-TORCH syndrome OMIMPS:251290 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 confirmed Galloway syndrome OMIM:251300 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 confirmed nephrosis-microcephaly syndrome OMIM:251300 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome OMIM:251300 galloway-mowat syndrome 1 confirmed nephrosis-neuronal dysmigration syndrome OMIM:251300 OMIM MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym Galloway-Mowat syndrome OMIMPS:251300 Galloway-Mowat syndrome confirmed Galloway-Mowat syndrome OMIMPS:251300 OMIM MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym Desbuquois dysplasia 1 Desbuquois dysplasia 1 desbuquois dysplasia 1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Desbuquois dysplasia 1 OMIM:251450 OMIM MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym MCOP1 OMIM:251600 microphthalmia, isolated 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCOP1 OMIM:251600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -68815,8 +66722,6 @@ MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclon MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym myoclonic epilepsy, juvenile OMIM:254770 epilepsy, myoclonic juvenile confirmed myoclonic epilepsy, juvenile OMIM:254770 OMIM MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym EJM OMIM:254770 epilepsy, myoclonic juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EJM OMIM:254770 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym epilepsy, myoclonic juvenile epilepsy, myoclonic juvenile Epilepsy, myoclonic juvenile OMIMPS:254770 Epilepsy, myoclonic juvenile confirmed epilepsy, myoclonic juvenile OMIMPS:254770 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym EPM2 EPM2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPM2 OMIM:254780 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym Lafora disease Lafora disease lafora disease OMIM:254780 myoclonic epilepsy of lafora 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lafora disease OMIM:254780 OMIM MONDO:0009697 Lafora disease oio:hasExactSynonym myoclonic epilepsy of Lafora myoclonic epilepsy of Lafora Myoclonic epilepsy of Lafora OMIMPS:254780 Myoclonic epilepsy of Lafora confirmed myoclonic epilepsy of Lafora OMIMPS:254780 OMIM MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym ULD ULD uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ULD OMIM:254800 OMIM MONDO:0009699 action myoclonus-renal failure syndrome oio:hasExactSynonym action myoclonus-renal failure syndrome OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure confirmed action myoclonus-renal failure syndrome OMIM:254900 OMIM @@ -68839,17 +66744,10 @@ MONDO:0009720 Keipert syndrome oio:hasExactSynonym nasodigitoacoustic syndrome, MONDO:0009720 Keipert syndrome oio:hasExactSynonym KPTS OMIM:301026 keipert syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KPTS OMIM:301026 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009721 Nathalie syndrome oio:hasExactSynonym Nathalie syndrome Nathalie syndrome nathalie syndrome OMIM:255990 nathalie syndrome confirmed Nathalie syndrome OMIM:255990 OMIM MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym Native American myopathy Native American myopathy native american myopathy OMIM:255995 congenital myopathy 13 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Native American myopathy OMIM:255995 OMIM -MONDO:0009723 Leigh syndrome oio:hasExactSynonym LSS OMIM:135750 laurin-sandrow syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LSS OMIM:135750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym focal segmental glomerulosclerosis 10 OMIM:256020 focal segmental glomerulosclerosis 10 confirmed focal segmental glomerulosclerosis 10 OMIM:256020 OMIM MONDO:0009724 nail-patella-like renal disease oio:hasExactSynonym nail-patella-like renal disease OMIM:256020 focal segmental glomerulosclerosis 10 confirmed nail-patella-like renal disease OMIM:256020 OMIM MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym nemaline myopathy 2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed nemaline myopathy 2 OMIM:256030 OMIM MONDO:0009725 nemaline myopathy 2 oio:hasExactSynonym NEM2 OMIM:256030 nemaline myopathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEM2 OMIM:256030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym JMP syndrome JMP syndrome jmp syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed JMP syndrome OMIM:256040 OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy OMIM:256040 OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym Nakajo-Nishimura syndrome Nakajo-Nishimura syndrome nakajo-nishimura syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed Nakajo-Nishimura syndrome OMIM:256040 OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed autoinflammation, lipodystrophy, and dermatosis syndrome OMIM:256040 OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome OMIM:256040 OMIM -MONDO:0009726 proteosome-associated autoinflammatory syndrome oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 proteasome-associated autoinflammatory syndrome 1 confirmed joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy OMIM:256040 OMIM MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AOII AOII aoii OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AOII OMIM:256050 OMIM MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym AO2 OMIM:256050 atelosteogenesis, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AO2 OMIM:256050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009728 nephronophthisis 1 oio:hasExactSynonym NPH1 NPH1 nph1 OMIM:256100 nephronophthisis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NPH1 OMIM:256100 OMIM @@ -68967,8 +66865,6 @@ MONDO:0009828 palant cleft palate syndrome oio:hasExactSynonym Palant cleft pal MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym Pallidopyramidal syndrome Pallidopyramidal syndrome pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset confirmed Pallidopyramidal syndrome OMIM:260300 OMIM MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym pallidopyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset confirmed pallidopyramidal syndrome OMIM:260300 OMIM MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym parkinsonian-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed parkinsonian-pyramidal syndrome OMIM:260300 OMIM -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 confirmed pancreatic insufficiency and bone marrow dysfunction OMIM:260400 OMIM -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Shwachman-Diamond syndrome OMIM:260400 OMIM MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Schwachman-Diamond syndrome OMIMPS:260400 Schwachman-Diamond syndrome confirmed Schwachman-Diamond syndrome OMIMPS:260400 OMIM MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis confirmed Subacute sclerosing panencephalitis OMIM:260470 OMIM MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis OMIM:260470 subacute sclerosing panencephalitis confirmed subacute sclerosing panencephalitis OMIM:260470 OMIM @@ -69091,13 +66987,11 @@ MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 oio:hasExactSynony MONDO:0009932 pulmonary bullae causing pneumothorax oio:hasExactSynonym pulmonary bullae causing pneumothorax OMIM:265200 pulmonary bullae causing pneumothorax confirmed pulmonary bullae causing pneumothorax OMIM:265200 OMIM MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed alveolar capillary dysplasia with misalignment of pulmonary veins OMIM:265380 OMIM MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACDMPV OMIM:265380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym PVOD PVOD pvod OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PVOD OMIM:265450 OMIM MONDO:0009938 pulmonic stenosis oio:hasExactSynonym pulmonic stenosis OMIM:265500 pulmonic stenosis confirmed pulmonic stenosis OMIM:265500 OMIM MONDO:0009939 pulmonic stenosis and congenital nephrosis oio:hasExactSynonym pulmonic stenosis and congenital nephrosis OMIM:265600 pulmonic stenosis and congenital nephrosis confirmed pulmonic stenosis and congenital nephrosis OMIM:265600 OMIM MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Pyknodysostosis pyknodysostosis OMIM:265800 pycnodysostosis confirmed Pyknodysostosis OMIM:265800 OMIM MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis OMIM:265800 pycnodysostosis confirmed pycnodysostosis OMIM:265800 OMIM MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym pyknoachondrogenesis OMIM:265880 pyknoachondrogenesis confirmed pyknoachondrogenesis OMIM:265880 OMIM -MONDO:0009943 Pyle disease oio:hasExactSynonym chondrodysplasia calcificans metaphysealis OMIM:215050 chondrodysplasia calcificans metaphysealis confirmed chondrodysplasia calcificans metaphysealis OMIM:215050 OMIM MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle disease Pyle disease pyle disease OMIM:265900 pyle disease confirmed Pyle disease OMIM:265900 OMIM MONDO:0009943 Pyle disease oio:hasExactSynonym metaphyseal dysplasia, Pyle type metaphyseal dysplasia, Pyle type metaphyseal dysplasia, pyle type OMIM:265900 pyle disease confirmed metaphyseal dysplasia, Pyle type OMIM:265900 OMIM MONDO:0009944 pyloric atresia oio:hasExactSynonym pyloric atresia OMIM:265950 pyloric atresia confirmed pyloric atresia OMIM:265950 OMIM @@ -69110,7 +67004,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym PK de MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of erythrocyte OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 confirmed pyruvate kinase deficiency of erythrocyte OMIM:266200 OMIM MONDO:0009950 pyruvate kinase deficiency of red cells oio:hasExactSynonym pyruvate kinase deficiency of red cells OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 confirmed pyruvate kinase deficiency of red cells OMIM:266200 OMIM MONDO:0009951 radiculoneuropathy, fatal neonatal oio:hasExactSynonym Radiculoneuropathy, fatal neonatal Radiculoneuropathy, fatal neonatal radiculoneuropathy, fatal neonatal OMIM:266250 radiculoneuropathy, fatal neonatal confirmed Radiculoneuropathy, fatal neonatal OMIM:266250 OMIM -MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG IIc CDG IIc cdg iic OMIM:266265 congenital disorder of glycosylation, type iic confirmed CDG IIc OMIM:266265 OMIM MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym Rambam-Hasharon syndrome Rambam-Hasharon syndrome rambam-hasharon syndrome OMIM:266265 congenital disorder of glycosylation, type iic confirmed Rambam-Hasharon syndrome OMIM:266265 OMIM MONDO:0009953 leukocyte adhesion deficiency type II oio:hasExactSynonym CDG2C OMIM:266265 congenital disorder of glycosylation, type iic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG2C OMIM:266265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -69125,7 +67018,6 @@ MONDO:0009958 adult Refsum disease oio:hasExactSynonym hereditary motor and sen MONDO:0009958 adult Refsum disease oio:hasExactSynonym heredopathia atactica polyneuritiformis OMIM:266500 refsum disease, classic confirmed heredopathia atactica polyneuritiformis OMIM:266500 OMIM MONDO:0009958 adult Refsum disease oio:hasExactSynonym phytanic acid oxidase deficiency OMIM:266500 refsum disease, classic confirmed phytanic acid oxidase deficiency OMIM:266500 OMIM MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3B peroxisome biogenesis disorder 3b OMIM:266510 peroxisome biogenesis disorder 3b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisome biogenesis disorder 3B OMIM:266510 OMIM -MONDO:0009959 peroxisome biogenesis disorder type 3B oio:hasExactSynonym infantile phytanic acid storage disease OMIM:601539 peroxisome biogenesis disorder 1b confirmed infantile phytanic acid storage disease OMIM:601539 OMIM MONDO:0009960 inflammatory bowel disease 1 oio:hasExactSynonym IBD1 OMIM:266600 inflammatory bowel disease (crohn disease) 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IBD1 OMIM:266600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009961 renal and mullerian duct hypoplasia oio:hasExactSynonym renal and mullerian duct hypoplasia OMIM:266810 renal and mullerian duct hypoplasia confirmed renal and mullerian duct hypoplasia OMIM:266810 OMIM MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym Senior-Loken syndrome 1 Senior-Loken syndrome 1 senior-loken syndrome 1 OMIM:266900 senior-loken syndrome 1 confirmed Senior-Loken syndrome 1 OMIM:266900 OMIM @@ -69162,8 +67054,6 @@ MONDO:0009990 Revesz syndrome oio:hasExactSynonym dyskeratosis congenita, autos MONDO:0009990 Revesz syndrome oio:hasExactSynonym exudative retinopathy with bone marrow failure OMIM:268130 revesz syndrome confirmed exudative retinopathy with bone marrow failure OMIM:268130 OMIM MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive oio:hasExactSynonym myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed myoglobinuria, acute recurrent, autosomal recessive OMIM:268200 OMIM MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction oio:hasExactSynonym rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction confirmed rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM:268315 OMIM -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome Rothmund-Thomson syndrome rothmund-thomson syndrome OMIM:268400 rothmund-thomson syndrome, type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rothmund-Thomson syndrome OMIM:268400 OMIM -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym RTS RTS rts OMIM:312750 rett syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RTS OMIM:312750 OMIM MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym Rothmund-Thomson syndrome OMIMPS:268400 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rothmund-Thomson syndrome OMIMPS:268400 OMIM MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym Rowley-Rosenberg syndrome Rowley-Rosenberg syndrome rowley-rosenberg syndrome OMIM:268500 rowley-rosenberg syndrome confirmed Rowley-Rosenberg syndrome OMIM:268500 OMIM MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopine dehydrogenase deficiency OMIM:268700 saccharopinuria confirmed saccharopine dehydrogenase deficiency OMIM:268700 OMIM @@ -69171,7 +67061,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria OMIM:268700 MONDO:0010006 Sandhoff disease oio:hasExactSynonym Hexosaminidases A and B deficiency Hexosaminidases A and B deficiency hexosaminidases a and B deficiency OMIM:268800 sandhoff disease confirmed Hexosaminidases A and B deficiency OMIM:268800 OMIM MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Sandhoff disease sandhoff disease OMIM:268800 sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Sandhoff disease OMIM:268800 OMIM MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed sarcosinemia OMIM:268900 OMIM -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS SGS sgs OMIM:269150 schinzel-giedion midface retraction syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS OMIM:269150 OMIM MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly OMIM:269160 schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed schizencephaly OMIM:269160 OMIM MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym Schmidt syndrome Schmidt syndrome schmidt syndrome OMIM:269200 autoimmune polyendocrine syndrome, type 2 confirmed Schmidt syndrome OMIM:269200 OMIM @@ -69221,7 +67110,6 @@ MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym SPG23 OMIM MONDO:0010047 hereditary spastic paraplegia 5A oio:hasExactSynonym SPG5A OMIM:270800 spastic paraplegia 5a, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG5A OMIM:270800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010048 spastic paraplegia with myoclonic epilepsy oio:hasExactSynonym spastic paraplegia with myoclonic epilepsy OMIM:270805 spastic paraplegia with myoclonic epilepsy confirmed spastic paraplegia with myoclonic epilepsy OMIM:270805 OMIM MONDO:0010052 spermatogenic failure 4 oio:hasExactSynonym spermatogenic failure 4 OMIM:270960 spermatogenic failure 4 confirmed spermatogenic failure 4 OMIM:270960 OMIM -MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010053 hereditary spherocytosis type 3 oio:hasExactSynonym SPH3 OMIM:270970 spherocytosis, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPH3 OMIM:270970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010054 spinal muscular atrophy with intellectual disability oio:hasExactSynonym spinal muscular atrophy with mental retardation OMIM:271109 spinal muscular atrophy with impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed spinal muscular atrophy with mental retardation OMIM:271109 OMIM MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym spinal muscular atrophy, adult form OMIM:271150 spinal muscular atrophy, type 4 confirmed spinal muscular atrophy, adult form OMIM:271150 OMIM @@ -69234,7 +67122,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym SCAR3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR3 OMIM:271250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010063 corneal-cerebellar syndrome oio:hasExactSynonym corneal-cerebellar syndrome OMIM:271310 spinocerebellar degeneration and corneal dystrophy confirmed corneal-cerebellar syndrome OMIM:271310 OMIM MONDO:0010064 spastic ataxia-corneal dystrophy syndrome oio:hasExactSynonym Bedouin spastic ataxia syndrome Bedouin spastic ataxia syndrome bedouin spastic ataxia syndrome OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia confirmed Bedouin spastic ataxia syndrome OMIM:271320 OMIM -MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:183090 spinocerebellar ataxia 2 confirmed spinocerebellar degeneration with slow eye movements OMIM:183090 OMIM MONDO:0010065 spinocerebellar degeneration with slow eye movements oio:hasExactSynonym spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements confirmed spinocerebellar degeneration with slow eye movements OMIM:271322 OMIM MONDO:0010067 splenoportal vascular anomalies oio:hasExactSynonym splenoportal vascular anomalies OMIM:271500 splenoportal vascular anomalies confirmed splenoportal vascular anomalies OMIM:271500 OMIM MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym sponastrime dysplasia OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime type confirmed sponastrime dysplasia OMIM:271510 OMIM @@ -69400,7 +67287,6 @@ MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis, localized, aut MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym hypotrichosis 8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hypotrichosis 8 OMIM:278150 OMIM MONDO:0010206 hypotrichosis 8 oio:hasExactSynonym HYPT8 OMIM:278150 hypotrichosis 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HYPT8 OMIM:278150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oio:hasExactSynonym Salamon syndrome Salamon syndrome salamon syndrome OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears confirmed Salamon syndrome OMIM:278200 OMIM -MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS WSS wss OMIM:241080 woodhouse-sakati syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WSS OMIM:241080 OMIM MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym wrinkly skin syndrome OMIM:278250 wrinkly skin syndrome confirmed wrinkly skin syndrome OMIM:278250 OMIM MONDO:0010208 wrinkly skin syndrome oio:hasExactSynonym WSS OMIM:278250 wrinkly skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WSS OMIM:278250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010209 xanthinuria type I oio:hasExactSynonym xanthinuria, type 1 OMIM:278300 xanthinuria, type 1 confirmed xanthinuria, type 1 OMIM:278300 OMIM @@ -69646,7 +67532,6 @@ MONDO:0010449 autism, susceptibility to, X-linked 5 oio:hasExactSynonym autism, MONDO:0010454 intellectual disability, X-linked 88 oio:hasExactSynonym mental retardation, X-linked 88 OMIM:300852 intellectual developmental disorder, X-linked 88 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed mental retardation, X-linked 88 OMIM:300852 OMIM MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oio:hasExactSynonym XMEN OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XMEN OMIM:300853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, Xp11-associated renal cell carcinoma, Xp11-associated renal cell carcinoma, xp11-associated OMIM:300854 renal cell carcinoma, xp11-associated confirmed renal cell carcinoma, Xp11-associated OMIM:300854 OMIM -MONDO:0010456 renal cell carcinoma, Xp11-associated oio:hasExactSynonym renal cell carcinoma, papillary, 1 OMIM:605074 renal cell carcinoma, papillary, 1 confirmed renal cell carcinoma, papillary, 1 OMIM:605074 OMIM MONDO:0010457 Ogden syndrome oio:hasExactSynonym N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency n-terminal acetyltransferase deficiency OMIM:300855 ogden syndrome confirmed N-terminal acetyltransferase deficiency OMIM:300855 OMIM MONDO:0010457 Ogden syndrome oio:hasExactSynonym Ogden syndrome Ogden syndrome ogden syndrome OMIM:300855 ogden syndrome confirmed Ogden syndrome OMIM:300855 OMIM MONDO:0010457 Ogden syndrome oio:hasExactSynonym OGDNS OMIM:300855 ogden syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OGDNS OMIM:300855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -69767,7 +67652,6 @@ MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with apla MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined oio:hasExactSynonym Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined confirmed Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined OMIM:302900 OMIM MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym Abruzzo-Erickson syndrome Abruzzo-Erickson syndrome abruzzo-erickson syndrome OMIM:302905 abruzzo-erickson syndrome confirmed Abruzzo-Erickson syndrome OMIM:302905 OMIM MONDO:0010554 Abruzzo-Erickson syndrome oio:hasExactSynonym ABERS OMIM:302905 abruzzo-erickson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ABERS OMIM:302905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal confirmed brachytelephalangic chondrodysplasia punctata OMIM:602497 OMIM MONDO:0010557 choroideremia oio:hasExactSynonym choroideremia OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed choroideremia OMIM:303100 OMIM MONDO:0010557 choroideremia oio:hasExactSynonym CHM OMIM:303100 choroideremia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHM OMIM:303100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010559 MASA syndrome oio:hasExactSynonym Gareis-Mason syndrome Gareis-Mason syndrome gareis-mason syndrome OMIM:303350 masa syndrome confirmed Gareis-Mason syndrome OMIM:303350 OMIM @@ -69853,7 +67737,6 @@ MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym incontinentia pigmenti MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym epileptic encephalopathy, early infantile, 1 OMIM:308350 developmental and epileptic encephalopathy 1 confirmed epileptic encephalopathy, early infantile, 1 OMIM:308350 OMIM MONDO:0010632 developmental and epileptic encephalopathy, 1 oio:hasExactSynonym DEE1 OMIM:308350 developmental and epileptic encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DEE1 OMIM:308350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma confirmed iris hypoplasia with glaucoma OMIM:308500 OMIM -MONDO:0010633 iris hypoplasia with glaucoma oio:hasExactSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 confirmed iris hypoplasia with glaucoma OMIM:601631 OMIM MONDO:0010634 jaundice, familial obstructive, of infancy oio:hasExactSynonym jaundice, familial obstructive, of infancy OMIM:308600 jaundice, familial obstructive, of infancy confirmed jaundice, familial obstructive, of infancy OMIM:308600 OMIM MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia oio:hasExactSynonym hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hypogonadotropic hypogonadism 1 with or without anosmia OMIM:308700 OMIM MONDO:0010636 Kallmann syndrome with spastic paraplegia oio:hasExactSynonym Kallmann syndrome with spastic paraplegia Kallmann syndrome with spastic paraplegia kallmann syndrome with spastic paraplegia OMIM:308750 kallmann syndrome with spastic paraplegia confirmed Kallmann syndrome with spastic paraplegia OMIM:308750 OMIM @@ -69880,7 +67763,6 @@ MONDO:0010651 Menkes disease oio:hasExactSynonym MNK OMIM:309400 menkes disea MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Golabi-Ito-Hall syndrome Golabi-Ito-Hall syndrome golabi-ito-hall syndrome OMIM:309500 renpenning syndrome 1 confirmed Golabi-Ito-Hall syndrome OMIM:309500 OMIM MONDO:0010653 Renpenning syndrome oio:hasExactSynonym Sutherland-Haan X-linked mental retardation syndrome Sutherland-Haan X-linked mental retardation syndrome sutherland-haan X-linked mental retardation syndrome OMIM:309500 renpenning syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Sutherland-Haan X-linked mental retardation syndrome OMIM:309500 OMIM MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome confirmed Partington syndrome OMIM:309510 OMIM -MONDO:0010654 Partington syndrome oio:hasExactSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked confirmed Partington syndrome OMIM:312780 OMIM MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym Lujan-Fryns syndrome Lujan-Fryns syndrome lujan-fryns syndrome OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type confirmed Lujan-Fryns syndrome OMIM:309520 OMIM MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym MRX MRX mrx OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MRX OMIM:309530 OMIM MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym mental retardation, X-linked 1 OMIM:309530 intellectual developmental disorder, X-linked 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed mental retardation, X-linked 1 OMIM:309530 OMIM @@ -69906,7 +67788,6 @@ MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, s MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym microphthalmia, syndromic 4, formerly OMIM:309800 microphthalmia, syndromic 1 confirmed microphthalmia, syndromic 4, formerly OMIM:309800 OMIM MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MAA, formerly MAA, formerly maa, formerly OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAA, formerly OMIM:309800 OMIM MONDO:0010671 microphthalmia, syndromic 1 oio:hasExactSynonym MCOPS1 OMIM:309800 microphthalmia, syndromic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCOPS1 OMIM:309800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym MIDAS syndrome MIDAS syndrome midas syndrome OMIM:309801 linear skin defects with multiple congenital anomalies 1 confirmed MIDAS syndrome OMIM:309801 OMIM MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies Linear skin defects with multiple congenital anomalies OMIMPS:309801 Linear skin defects with multiple congenital anomalies confirmed linear skin defects with multiple congenital anomalies OMIMPS:309801 OMIM MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym modifier, X-linked, for Neurofunctional defects modifier, X-linked, for Neurofunctional defects modifier, x-linked, for neurofunctional defects OMIM:309840 modifier, x-linked, for neurofunctional defects confirmed modifier, X-linked, for Neurofunctional defects OMIM:309840 OMIM MONDO:0010674 mucopolysaccharidosis type 2 oio:hasExactSynonym Hunter syndrome Hunter syndrome hunter syndrome OMIM:309900 mucopolysaccharidosis, type 2 confirmed Hunter syndrome OMIM:309900 OMIM @@ -70027,7 +67908,6 @@ MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed mental retardation, X-linked, with congenital contractures and Low fingertip arches OMIM:314580 OMIM MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, X-linked, with congenital contractures and low fingertip arches mental retardation, x-linked, with congenital contractures and low fingertip arches OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed mental retardation, X-linked, with congenital contractures and low fingertip arches OMIM:314580 OMIM MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym WRWF OMIM:314580 wieacker-wolff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WRWF OMIM:314580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010758 Wieacker-Wolff syndrome oio:hasExactSynonym Wieacker-Wolff syndrome OMIMPS:314580 Wieacker-Wolff syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Wieacker-Wolff syndrome OMIMPS:314580 OMIM MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Cervicooculoacoustic syndrome Cervicooculoacoustic syndrome cervicooculoacoustic syndrome OMIM:314600 wildervanck syndrome confirmed Cervicooculoacoustic syndrome OMIM:314600 OMIM MONDO:0010759 Wildervanck syndrome oio:hasExactSynonym Wildervanck syndrome Wildervanck syndrome wildervanck syndrome OMIM:314600 wildervanck syndrome confirmed Wildervanck syndrome OMIM:314600 OMIM MONDO:0010761 retinitis pigmentosa Y-linked oio:hasExactSynonym retinitis pigmentosa, Y-linked OMIM:400004 retinitis pigmentosa, Y-linked confirmed retinitis pigmentosa, Y-linked OMIM:400004 OMIM @@ -70227,10 +68107,8 @@ MONDO:0010991 laterality defects, autosomal dominant oio:hasExactSynonym latera MONDO:0010992 Ayme-Gripp syndrome oio:hasExactSynonym Ayme-Gripp syndrome Ayme-Gripp syndrome ayme-gripp syndrome OMIM:601088 ayme-gripp syndrome confirmed Ayme-Gripp syndrome OMIM:601088 OMIM MONDO:0010993 Harrod syndrome oio:hasExactSynonym Harrod syndrome Harrod syndrome harrod syndrome OMIM:601095 harrod syndrome confirmed Harrod syndrome OMIM:601095 OMIM MONDO:0010995 Charcot-Marie-Tooth disease type 1C oio:hasExactSynonym CMT1C OMIM:601098 charcot-marie-tooth disease, demyelinating, type 1c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT1C OMIM:601098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive, 1 OMIM:601104 supranuclear palsy, progressive, 1 confirmed supranuclear palsy, progressive, 1 OMIM:601104 OMIM MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym PSP PSP psp OMIM:601104 supranuclear palsy, progressive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSP OMIM:601104 OMIM -MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym supranuclear palsy, progressive supranuclear palsy, progressive Supranuclear palsy, progressive OMIMPS:601104 Supranuclear palsy, progressive confirmed supranuclear palsy, progressive OMIMPS:601104 OMIM MONDO:0010998 ALG3-congenital disorder of glycosylation oio:hasExactSynonym CDG1D OMIM:601110 congenital disorder of glycosylation, type id http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG1D OMIM:601110 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym Brugada syndrome 1 Brugada syndrome 1 brugada syndrome 1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brugada syndrome 1 OMIM:601144 OMIM MONDO:0011001 Brugada syndrome 1 oio:hasExactSynonym BRGDA1 OMIM:601144 brugada syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BRGDA1 OMIM:601144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -70497,7 +68375,6 @@ MONDO:0011274 Muenke syndrome oio:hasExactSynonym Muenke syndrome Muenke syndro MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type oio:hasExactSynonym acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia, maroteaux type OMIM:602875 acromesomelic dysplasia 1 confirmed acromesomelic dysplasia, Maroteaux type OMIM:602875 OMIM MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym orofacial cleft 2 OMIM:602966 orofacial cleft 2 confirmed orofacial cleft 2 OMIM:602966 OMIM MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011276 orofacial cleft 2 oio:hasExactSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFC2 OMIM:615560 OMIM MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia 6 OMIM:603013 schizophrenia 6 confirmed schizophrenia 6 OMIM:603013 OMIM MONDO:0011280 schizophrenia 6 oio:hasExactSynonym schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8P-related schizophrenia susceptibility locus, chromosome 8p-related OMIM:603013 schizophrenia 6 confirmed schizophrenia susceptibility locus, chromosome 8P-related OMIM:603013 OMIM MONDO:0011280 schizophrenia 6 oio:hasExactSynonym SCZD6 OMIM:603013 schizophrenia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCZD6 OMIM:603013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -70546,7 +68423,6 @@ MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior MONDO:0011318 Tonoki syndrome oio:hasExactSynonym Tonoki syndrome Tonoki syndrome tonoki syndrome OMIM:603396 tonoki syndrome confirmed Tonoki syndrome OMIM:603396 OMIM MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Giuffre-Tsukahara syndrome Giuffre-Tsukahara syndrome giuffre-tsukahara syndrome OMIM:603438 tsukahara syndrome confirmed Giuffre-Tsukahara syndrome OMIM:603438 OMIM MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome confirmed Tsukahara syndrome OMIM:603438 OMIM -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExactSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome confirmed Tsukahara syndrome OMIM:613627 OMIM MONDO:0011321 expansile bone lesions oio:hasExactSynonym expansile bone lesions OMIM:603439 expansile bone lesions confirmed expansile bone lesions OMIM:603439 OMIM MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type oio:hasExactSynonym Oroacral syndrome, Verloes-Koulischer type Oroacral syndrome, Verloes-Koulischer type oroacral syndrome, verloes-koulischer type OMIM:603446 oroacral syndrome, verloes-koulischer type confirmed Oroacral syndrome, Verloes-Koulischer type OMIM:603446 OMIM MONDO:0011325 Fanconi anemia complementation group F oio:hasExactSynonym FANCF OMIM:603467 fanconi anemia, complementation group f http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FANCF OMIM:603467 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -70554,7 +68430,6 @@ MONDO:0011326 citrullinemia, type II, adult-onset oio:hasExactSynonym citrullin MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease OMIM:603472 neuronal intranuclear inclusion disease confirmed neuronal intranuclear inclusion disease OMIM:603472 OMIM MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 OMIM:603516 spinocerebellar ataxia 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA10 OMIM:603516 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin oio:hasExactSynonym Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin confirmed Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529 OMIM -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS LMS lms OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS OMIM:130720 OMIM MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome OMIM:603543 limb-mammary syndrome confirmed limb-mammary syndrome OMIM:603543 OMIM MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, type 2 confirmed spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type OMIM:603546 OMIM @@ -70587,7 +68462,6 @@ MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities oio:has MONDO:0011358 blue nevi, familial multiple oio:hasExactSynonym blue nevi, familial multiple OMIM:603670 blue nevi, familial multiple confirmed blue nevi, familial multiple OMIM:603670 OMIM MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym acromelic frontonasal dysostosis OMIM:603671 acromelic frontonasal dysostosis confirmed acromelic frontonasal dysostosis OMIM:603671 OMIM MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011359 acromelic frontonasal dysostosis oio:hasExactSynonym AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011361 prostate cancer/brain cancer susceptibility oio:hasExactSynonym prostate cancer/brain cancer susceptibility OMIM:603688 prostate cancer/brain cancer susceptibility confirmed prostate cancer/brain cancer susceptibility OMIM:603688 OMIM MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym Edstrom myopathy Edstrom myopathy edstrom myopathy OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure confirmed Edstrom myopathy OMIM:603689 OMIM MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure confirmed myopathy, distal, with early respiratory failure, autosomal dominant OMIM:603689 OMIM @@ -70691,7 +68565,6 @@ MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplas MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym nephronophthisis 3 OMIM:604387 nephronophthisis 3 confirmed nephronophthisis 3 OMIM:604387 OMIM MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPH3 NPH3 nph3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NPH3 OMIM:604387 OMIM MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym NPHP3 OMIM:604387 nephronophthisis 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NPHP3 OMIM:604387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym ATLD ATLD atld OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATLD OMIM:604391 OMIM MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym Leber congenital amaurosis 4 Leber congenital amaurosis 4 leber congenital amaurosis 4 OMIM:604393 leber congenital amaurosis 4 confirmed Leber congenital amaurosis 4 OMIM:604393 OMIM MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym LCA4 OMIM:604393 leber congenital amaurosis 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCA4 OMIM:604393 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 confirmed arrhythmogenic right ventricular cardiomyopathy 5 OMIM:604400 OMIM @@ -70723,7 +68596,6 @@ MONDO:0011481 craniosynostosis 2 oio:hasExactSynonym CRS2 OMIM:604757 cranios MONDO:0011482 dilated cardiomyopathy 1I oio:hasExactSynonym CMD1I OMIM:604765 cardiomyopathy, dilated, 1i http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1I OMIM:604765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011483 polycystic bone disease oio:hasExactSynonym polycystic bone disease OMIM:604771 polycystic bone disease confirmed polycystic bone disease OMIM:604771 OMIM MONDO:0011485 autosomal recessive congenital ichthyosis 5 oio:hasExactSynonym ARCI5 OMIM:604777 ichthyosis, congenital, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARCI5 OMIM:604777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym CMD1B OMIM:600884 cardiomyopathy, dilated, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1B OMIM:600884 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011486 congenital muscular dystrophy 1B oio:hasExactSynonym MDC1B OMIM:604801 muscular dystrophy, congenital, 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDC1B OMIM:604801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym Huntington disease-like 3 Huntington disease-like 3 huntington disease-like 3 OMIM:604802 huntington disease-like 3 confirmed Huntington disease-like 3 OMIM:604802 OMIM MONDO:0011487 Huntington disease-like 3 oio:hasExactSynonym HDL3 OMIM:604802 huntington disease-like 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HDL3 OMIM:604802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -70817,7 +68689,6 @@ MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym cone-rod dystrophy 8 O MONDO:0011564 cone-rod dystrophy 8 oio:hasExactSynonym CORD8 OMIM:605549 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CORD8 OMIM:605549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011565 metabolic syndrome X oio:hasExactSynonym abdominal obesity-metabolic syndrome 1 OMIM:605552 abdominal obesity-metabolic syndrome 1 confirmed abdominal obesity-metabolic syndrome 1 OMIM:605552 OMIM MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 confirmed abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 OMIM -MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 oio:hasExactSynonym Abdominal obesity-metabolic syndrome OMIMPS:605552 Abdominal obesity-metabolic syndrome confirmed Abdominal obesity-metabolic syndrome OMIMPS:605552 OMIM MONDO:0011567 dilated cardiomyopathy 1K oio:hasExactSynonym CMD1K OMIM:605582 cardiomyopathy, dilated, 1k http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1K OMIM:605582 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 oio:hasExactSynonym CMT2B1 OMIM:605588 charcot-marie-tooth disease, axonal, type 2b1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2B1 OMIM:605588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 oio:hasExactSynonym ARCMT2B ARCMT2B arcmt2b OMIM:605589 charcot-marie-tooth disease, axonal, type 2b2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARCMT2B OMIM:605589 OMIM @@ -70861,7 +68732,6 @@ MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym birdshot chorioret MONDO:0011599 birdshot chorioretinopathy oio:hasExactSynonym BSCR BSCR bscr OMIM:605808 birdshot chorioretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BSCR OMIM:605808 OMIM MONDO:0011600 congenital myasthenic syndrome 4A oio:hasExactSynonym CMS4A OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS4A OMIM:605809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011603 GNE myopathy oio:hasExactSynonym Nonaka myopathy Nonaka myopathy nonaka myopathy OMIM:605820 nonaka myopathy confirmed Nonaka myopathy OMIM:605820 OMIM -MONDO:0011603 GNE myopathy oio:hasExactSynonym DMRV OMIM:617158 myopathy, distal, with rimmed vacuoles http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DMRV OMIM:617158 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011606 baby rattle pelvis dysplasia oio:hasExactSynonym baby rattle pelvis dysplasia OMIM:605838 baby rattle pelvis dysplasia confirmed baby rattle pelvis dysplasia OMIM:605838 OMIM MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym narcolepsy 2, susceptibility to OMIM:605841 narcolepsy 2, susceptibility to confirmed narcolepsy 2, susceptibility to OMIM:605841 OMIM MONDO:0011607 narcolepsy 2, susceptibility to oio:hasExactSynonym NRCLP2 OMIM:605841 narcolepsy 2, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NRCLP2 OMIM:605841 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -70937,7 +68807,6 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDI1 CMTDI1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMTDI1 OMIM:606482 OMIM MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym CMTDIB OMIM:606482 charcot-marie-tooth disease, dominant intermediate B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMTDIB OMIM:606482 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMT2GG OMIM:606483 charcot-marie-tooth disease, axonal, type 2gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2GG OMIM:606483 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym CMTDIA OMIM:620378 charcot-marie-tooth disease, dominant intermediate a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMTDIA OMIM:620378 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011677 Megarbane syndrome oio:hasExactSynonym Megarbane syndrome Megarbane syndrome megarbane syndrome OMIM:606527 megarbane syndrome confirmed Megarbane syndrome OMIM:606527 OMIM MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym homozygous 11P15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome homozygous 11p15-p14 deletion syndrome OMIM:606528 homozygous 11p15-p14 deletion syndrome confirmed homozygous 11P15-p14 deletion syndrome OMIM:606528 OMIM MONDO:0011679 craniosynostosis syndrome, autosomal recessive oio:hasExactSynonym craniosynostosis syndrome, autosomal recessive OMIM:606529 craniosynostosis syndrome, autosomal recessive confirmed craniosynostosis syndrome, autosomal recessive OMIM:606529 OMIM @@ -70954,7 +68823,6 @@ MONDO:0011689 dyslexia, susceptibility to, 6 oio:hasExactSynonym DYX6 OMIM:60 MONDO:0011690 Camurati-Engelmann disease, type 2 oio:hasExactSynonym Camurati-Engelmann disease, type 2 Camurati-Engelmann disease, type 2 camurati-engelmann disease, type 2 OMIM:606631 camurati-engelmann disease, type 2 confirmed Camurati-Engelmann disease, type 2 OMIM:606631 OMIM MONDO:0011691 amyotrophic lateral sclerosis type 3 oio:hasExactSynonym amyotrophic lateral sclerosis 3 OMIM:606640 amyotrophic lateral sclerosis 3 confirmed amyotrophic lateral sclerosis 3 OMIM:606640 OMIM MONDO:0011693 glaucoma, normal tension, susceptibility to oio:hasExactSynonym glaucoma, normal tension, susceptibility to OMIM:606657 glaucoma, normal tension, susceptibility to confirmed glaucoma, normal tension, susceptibility to OMIM:606657 OMIM -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR16 OMIM:615768 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym melanoma, uveal, susceptibility to, 1 OMIM:606660 melanoma, uveal, susceptibility to, 1 confirmed melanoma, uveal, susceptibility to, 1 OMIM:606660 OMIM MONDO:0011695 melanoma, uveal, susceptibility to, 1 oio:hasExactSynonym UVM1 OMIM:606660 melanoma, uveal, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UVM1 OMIM:606660 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011696 melanoma, uveal, susceptibility to, 2 oio:hasExactSynonym melanoma, uveal, susceptibility to, 2 OMIM:606661 melanoma, uveal, susceptibility to, 2 confirmed melanoma, uveal, susceptibility to, 2 OMIM:606661 OMIM @@ -71040,9 +68908,6 @@ MONDO:0011765 multiple epiphyseal dysplasia type 5 oio:hasExactSynonym EDM5 O MONDO:0011768 myasthenia gravis with thymus hyperplasia oio:hasExactSynonym myasthenia gravis with thymus hyperplasia OMIM:607085 myasthenia gravis with thymus hyperplasia confirmed myasthenia gravis with thymus hyperplasia OMIM:607085 OMIM MONDO:0011770 aortic aneurysm, familial thoracic 2 oio:hasExactSynonym aortic aneurysm, familial thoracic 2 OMIM:607087 aortic aneurysm, familial thoracic 2 confirmed aortic aneurysm, familial thoracic 2 OMIM:607087 OMIM MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym CDG2D OMIM:607091 congenital disorder of glycosylation, type iid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDG2D OMIM:607091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia OMIM:607095 anauxetic dysplasia 1 confirmed anauxetic dysplasia OMIM:607095 OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 confirmed spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 confirmed spondylometaepiphyseal dysplasia, Menger type OMIM:607095 OMIM MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia confirmed anauxetic dysplasia OMIMPS:607095 OMIM MONDO:0011776 CINCA syndrome oio:hasExactSynonym CINCA syndrome CINCA syndrome cinca syndrome OMIM:607115 cinca syndrome confirmed CINCA syndrome OMIM:607115 OMIM MONDO:0011776 CINCA syndrome oio:hasExactSynonym chronic neurologic cutaneous and articular syndrome OMIM:607115 cinca syndrome confirmed chronic neurologic cutaneous and articular syndrome OMIM:607115 OMIM @@ -71085,7 +68950,6 @@ MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 oio:hasExactSynonym SLEH1 OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SLEH1 OMIM:607279 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011808 cataract 27 oio:hasExactSynonym cataract 27 OMIM:607304 cataract 27 confirmed cataract 27 OMIM:607304 OMIM MONDO:0011808 cataract 27 oio:hasExactSynonym CTRCT27 OMIM:607304 cataract 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CTRCT27 OMIM:607304 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym HGPPS HGPPS hgpps OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HGPPS OMIM:607313 OMIM MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome oio:hasExactSynonym SCAR4 OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR4 OMIM:607317 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym DR syndrome DR syndrome dr syndrome OMIM:607323 duane-radial ray syndrome confirmed DR syndrome OMIM:607323 OMIM MONDO:0011812 Duane-radial ray syndrome oio:hasExactSynonym Duane anomaly with radial ray abnormalities and deafness Duane anomaly with radial ray abnormalities and deafness duane anomaly with radial ray abnormalities and deafness OMIM:607323 duane-radial ray syndrome confirmed Duane anomaly with radial ray abnormalities and deafness OMIM:607323 OMIM @@ -71108,7 +68972,6 @@ MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym autism, suscepti MONDO:0011824 autism, susceptibility to, 8 oio:hasExactSynonym AUTS8 OMIM:607373 autism, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AUTS8 OMIM:607373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011825 streptococcus, group A, severity of infection by oio:hasExactSynonym streptococcus, group A, severity of infection by streptococcus, group A, severity of infection by streptococcus, group a, severity of infection by OMIM:607395 streptococcus, group a, severity of infection by confirmed streptococcus, group A, severity of infection by OMIM:607395 OMIM MONDO:0011826 glucocorticoid deficiency 2 oio:hasExactSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 confirmed glucocorticoid deficiency 2 OMIM:607398 OMIM -MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDA OMIM:607411 OMIM MONDO:0011827 patent ductus arteriosus oio:hasExactSynonym patent ductus arteriosus patent ductus arteriosus Patent ductus arteriosus OMIMPS:607411 Patent ductus arteriosus confirmed patent ductus arteriosus OMIMPS:607411 OMIM MONDO:0011829 coenzyme Q10 deficiency, primary, 1 oio:hasExactSynonym coenzyme Q10 deficiency, primary, 1 OMIM:607426 coenzyme Q10 deficiency, primary, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed coenzyme Q10 deficiency, primary, 1 OMIM:607426 OMIM MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 confirmed arrhythmogenic right ventricular cardiomyopathy 8 OMIM:607450 OMIM @@ -71133,7 +68996,6 @@ MONDO:0011850 migraine with or without aura, susceptibility to, 5 oio:hasExactSy MONDO:0011851 migraine with or without aura, susceptibility to, 6 oio:hasExactSynonym migraine with or without aura, susceptibility to, 6 OMIM:607516 migraine with or without aura, susceptibility to, 6 confirmed migraine with or without aura, susceptibility to, 6 OMIM:607516 OMIM MONDO:0011853 Camptosynpolydactyly, complex oio:hasExactSynonym camptosynpolydactyly, complex OMIM:607539 camptosynpolydactyly, complex confirmed camptosynpolydactyly, complex OMIM:607539 OMIM MONDO:0011854 secretory diarrhea, myopathy, and deafness oio:hasExactSynonym secretory diarrhea, myopathy, and deafness OMIM:607540 secretory diarrhea, myopathy, and deafness confirmed secretory diarrhea, myopathy, and deafness OMIM:607540 OMIM -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym CGD2 OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CGD2 OMIM:233710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym Avellino corneal dystrophy Avellino corneal dystrophy avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type confirmed Avellino corneal dystrophy OMIM:607541 OMIM MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym avellino corneal dystrophy OMIM:607541 corneal dystrophy, avellino type confirmed avellino corneal dystrophy OMIM:607541 OMIM MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym combined granular-lattice corneal dystrophy OMIM:607541 corneal dystrophy, avellino type confirmed combined granular-lattice corneal dystrophy OMIM:607541 OMIM @@ -71150,7 +69012,6 @@ MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym leth MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym LCCS2 OMIM:607598 lethal congenital contracture syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCCS2 OMIM:607598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym epidermolysis bullosa simplex superficialis OMIM:607600 epidermolysis bullosa simplex superficialis confirmed epidermolysis bullosa simplex superficialis OMIM:607600 OMIM MONDO:0011869 epidermolysis bullosa simplex superficialis oio:hasExactSynonym EBSS OMIM:607600 epidermolysis bullosa simplex superficialis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EBSS OMIM:607600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym AEI AEI aei OMIM:607602 ichthyosis, annular epidermolytic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AEI OMIM:607602 OMIM MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym ichthyosis, annular epidermolytic ichthyosis, annular epidermolytic Ichthyosis, annular epidermolytic OMIMPS:607602 Ichthyosis, annular epidermolytic confirmed ichthyosis, annular epidermolytic OMIMPS:607602 OMIM MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym Griscelli syndrome with hemophagocytic syndrome Griscelli syndrome with hemophagocytic syndrome griscelli syndrome with hemophagocytic syndrome OMIM:607624 griscelli syndrome, type 2 confirmed Griscelli syndrome with hemophagocytic syndrome OMIM:607624 OMIM MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym PAID syndrome PAID syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 confirmed PAID syndrome OMIM:607624 OMIM @@ -71181,7 +69042,6 @@ MONDO:0011894 Charcot-Marie-Tooth disease type 2E oio:hasExactSynonym CMT2E O MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 11, autosomal dominant, susceptibility to Parkinson disease 11, autosomal dominant, susceptibility to parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to confirmed Parkinson disease 11, autosomal dominant, susceptibility to OMIM:607688 OMIM MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym HLD7 OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HLD7 OMIM:607694 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive confirmed Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 OMIM -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Tosti syndrome Tosti syndrome tosti syndrome OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 confirmed Tosti syndrome OMIM:607721 OMIM MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 OMIM MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym porokeratosis 4, disseminated superficial actinic type OMIM:607728 porokeratosis 4, disseminated superficial actinic type confirmed porokeratosis 4, disseminated superficial actinic type OMIM:607728 OMIM MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym POROK4 OMIM:607728 porokeratosis 4, disseminated superficial actinic type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed POROK4 OMIM:607728 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -71210,7 +69070,6 @@ MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSyn MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults oio:hasExactSynonym nonimmune chronic idiopathic neutropenia of adults OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults confirmed nonimmune chronic idiopathic neutropenia of adults OMIM:607847 OMIM MONDO:0011923 osteoarthritis susceptibility 3 oio:hasExactSynonym osteoarthritis susceptibility 3 OMIM:607850 osteoarthritis susceptibility 3 confirmed osteoarthritis susceptibility 3 OMIM:607850 OMIM MONDO:0011924 panic disorder 2 oio:hasExactSynonym panic disorder 2 OMIM:607853 panic disorder 2 confirmed panic disorder 2 OMIM:607853 OMIM -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym CMD1A OMIM:115200 cardiomyopathy, dilated, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1A OMIM:115200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym MDC1A OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDC1A OMIM:607855 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym psoriasis 9, susceptibility to OMIM:607857 psoriasis 9, susceptibility to confirmed psoriasis 9, susceptibility to OMIM:607857 OMIM MONDO:0011926 psoriasis 9, susceptibility to oio:hasExactSynonym PSORS9 OMIM:607857 psoriasis 9, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSORS9 OMIM:607857 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -71488,7 +69347,6 @@ MONDO:0012159 lung cancer susceptibility 1 oio:hasExactSynonym LNCR1 OMIM:608 MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym MDPT2 OMIM:608970 macular dystrophy, patterned, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDPT2 OMIM:608970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 OMIM MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym IMD104 OMIM:608971 immunodeficiency 104, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMD104 OMIM:608971 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 OMIM MONDO:0012164 Meacham syndrome oio:hasExactSynonym Meacham syndrome Meacham syndrome meacham syndrome OMIM:608978 meacham syndrome confirmed Meacham syndrome OMIM:608978 OMIM MONDO:0012165 BNAR syndrome oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies confirmed bifid nose with or without anorectal and renal anomalies OMIM:608980 OMIM MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym ADSA ADSA adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADSA OMIM:608984 OMIM @@ -71792,9 +69650,6 @@ MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym esophagitis, eos MONDO:0012451 esophagitis, eosinophilic, 1 oio:hasExactSynonym EOE1 OMIM:610247 esophagitis, eosinophilic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EOE1 OMIM:610247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 OMIM:610250 spastic paraplegia 31, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG31 OMIM:610250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012454 alcohol sensitivity, acute oio:hasExactSynonym alcohol sensitivity, acute OMIM:610251 alcohol sensitivity, acute confirmed alcohol sensitivity, acute OMIM:610251 OMIM -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome OMIM:610253 kleefstra syndrome 1 confirmed 9Q subtelomeric deletion syndrome OMIM:610253 OMIM -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q- syndrome 9Q- syndrome 9q- syndrome OMIM:610253 kleefstra syndrome 1 confirmed 9Q- syndrome OMIM:610253 OMIM -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym chromosome 9Q34.3 deletion syndrome chromosome 9Q34.3 deletion syndrome chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 confirmed chromosome 9Q34.3 deletion syndrome OMIM:610253 OMIM MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Kleefstra syndrome OMIMPS:610253 OMIM MONDO:0012456 congenital primary aphakia oio:hasExactSynonym aphakia, congenital primary OMIM:610256 anterior segment dysgenesis 2 confirmed aphakia, congenital primary OMIM:610256 OMIM MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 oio:hasExactSynonym pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 confirmed pyloric stenosis, infantile hypertrophic, 2 OMIM:610260 OMIM @@ -71821,7 +69676,6 @@ MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym orofacial cleft 9 OMIM:61 MONDO:0012478 orofacial cleft 9 oio:hasExactSynonym OFC9 OMIM:610361 orofacial cleft 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFC9 OMIM:610361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric anendocrinosis OMIM:610370 diarrhea 4, malabsorptive, congenital confirmed enteric anendocrinosis OMIM:610370 OMIM MONDO:0012480 diabetes mellitus, transient neonatal, 2 oio:hasExactSynonym diabetes mellitus, transient neonatal, 2 OMIM:610374 diabetes mellitus, transient neonatal, 2 confirmed diabetes mellitus, transient neonatal, 2 OMIM:610374 OMIM -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS OMIM:260920 hyper-igd syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIDS OMIM:260920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria OMIM:610377 mevalonic aciduria confirmed mevalonic aciduria OMIM:610377 OMIM MONDO:0012482 West Nile virus, susceptibility to oio:hasExactSynonym West Nile virus, susceptibility to West Nile virus, susceptibility to west nile virus, susceptibility to OMIM:610379 west nile virus, susceptibility to confirmed West Nile virus, susceptibility to OMIM:610379 OMIM MONDO:0012483 cone-rod dystrophy 11 oio:hasExactSynonym cone-rod dystrophy 11 OMIM:610381 cone-rod dystrophy 11 confirmed cone-rod dystrophy 11 OMIM:610381 OMIM @@ -72234,7 +70088,6 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym retinitis pigmentosa 29 OMIM:612165 retinitis pigmentosa 29 confirmed retinitis pigmentosa 29 OMIM:612165 OMIM MONDO:0012813 retinitis pigmentosa 29 oio:hasExactSynonym RP29 OMIM:612165 retinitis pigmentosa 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RP29 OMIM:612165 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012814 diastasis recti and weakness of the linea alba oio:hasExactSynonym diastasis recti and weakness of the linea alba OMIM:612198 diastasis recti and weakness of the linea alba confirmed diastasis recti and weakness of the linea alba OMIM:612198 OMIM -MONDO:0012815 Coats plus syndrome oio:hasExactSynonym CRMCC CRMCC crmcc OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CRMCC OMIM:612199 OMIM MONDO:0012815 Coats plus syndrome oio:hasExactSynonym cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcfications and cysts Cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts confirmed cerebroretinal microangiopathy with calcfications and cysts OMIMPS:612199 OMIM MONDO:0012816 atrial fibrillation, familial, 6 oio:hasExactSynonym atrial fibrillation, familial, 6 OMIM:612201 atrial fibrillation, familial, 6 confirmed atrial fibrillation, familial, 6 OMIM:612201 OMIM MONDO:0012817 Ewing sarcoma oio:hasExactSynonym Ewing sarcoma Ewing sarcoma ewing sarcoma OMIM:612219 ewing sarcoma confirmed Ewing sarcoma OMIM:612219 OMIM @@ -72336,7 +70189,6 @@ MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExa MONDO:0012881 major affective disorder 7 oio:hasExactSynonym major affective disorder 7 OMIM:612371 major affective disorder 7 confirmed major affective disorder 7 OMIM:612371 OMIM MONDO:0012882 major affective disorder 9 oio:hasExactSynonym major affective disorder 9 OMIM:612372 major affective disorder 9 confirmed major affective disorder 9 OMIM:612372 OMIM MONDO:0012882 major affective disorder 9 oio:hasExactSynonym MAFD9 OMIM:612372 major affective disorder 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAFD9 OMIM:612372 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym acute promyelocytic leukemia OMIM:612376 acute promyelocytic leukemia confirmed acute promyelocytic leukemia OMIM:612376 OMIM MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 confirmed systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 OMIM @@ -72369,7 +70221,6 @@ MONDO:0012908 complement component 6 deficiency oio:hasExactSynonym complement MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability oio:hasExactSynonym skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed skeletal defects, genital hypoplasia, and mental retardation OMIM:612447 OMIM MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym age-related hearing impairment 1 OMIM:612448 age-related hearing impairment 1 confirmed age-related hearing impairment 1 OMIM:612448 OMIM MONDO:0012910 age-related hearing impairment 1 oio:hasExactSynonym ARHI1 OMIM:612448 age-related hearing impairment 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARHI1 OMIM:612448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym Albright Hereditary osteodystrophy with multiple hormone resistance Albright Hereditary osteodystrophy with multiple hormone resistance albright hereditary osteodystrophy with multiple hormone resistance OMIM:103580 pseudohypoparathyroidism, type 1a confirmed Albright Hereditary osteodystrophy with multiple hormone resistance OMIM:103580 OMIM MONDO:0012912 pseudopseudohypoparathyroidism oio:hasExactSynonym pseudopseudohypoparathyroidism OMIM:612463 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pseudopseudohypoparathyroidism OMIM:612463 OMIM MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 wagro syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome OMIM:612469 OMIM MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym chromosome 1q21.1 duplication syndrome OMIM:612475 chromosome 1q21.1 duplication syndrome confirmed chromosome 1q21.1 duplication syndrome OMIM:612475 OMIM @@ -72479,7 +70330,6 @@ MONDO:0013002 cone-rod dystrophy 9 oio:hasExactSynonym CORD9 OMIM:612775 cone MONDO:0013004 hypotonia, seizures, and precocious puberty oio:hasExactSynonym hypotonia, seizures, and precocious puberty OMIM:612777 hypotonia, seizures, and precocious puberty confirmed hypotonia, seizures, and precocious puberty OMIM:612777 OMIM MONDO:0013005 EAST syndrome oio:hasExactSynonym EAST syndrome EAST syndrome east syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance confirmed EAST syndrome OMIM:612780 OMIM MONDO:0013005 EAST syndrome oio:hasExactSynonym sesame syndrome OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance confirmed sesame syndrome OMIM:612780 OMIM -MONDO:0013006 isolated growth hormone deficiency type IB oio:hasExactSynonym dwarfism of Sindh dwarfism of Sindh dwarfism of sindh OMIM:618157 isolated growth hormone deficiency, type 4 confirmed dwarfism of Sindh OMIM:618157 OMIM MONDO:0013009 Megarbane-Jalkh syndrome oio:hasExactSynonym Megarbane-Jalkh syndrome Megarbane-Jalkh syndrome megarbane-jalkh syndrome OMIM:612785 megarbane-jalkh syndrome confirmed Megarbane-Jalkh syndrome OMIM:612785 OMIM MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym atrial septal defect 5 OMIM:612794 atrial septal defect 5 confirmed atrial septal defect 5 OMIM:612794 OMIM MONDO:0013011 atrial septal defect 5 oio:hasExactSynonym ASD5 OMIM:612794 atrial septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ASD5 OMIM:612794 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -72649,19 +70499,15 @@ MONDO:0013146 Brugada syndrome 7 oio:hasExactSynonym BRGDA7 OMIM:613120 bruga MONDO:0013147 dilated cardiomyopathy 1CC oio:hasExactSynonym CMD1CC OMIM:613122 cardiomyopathy, dilated, 1cc http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1CC OMIM:613122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym Brugada syndrome 8 Brugada syndrome 8 brugada syndrome 8 OMIM:613123 brugada syndrome 8 confirmed Brugada syndrome 8 OMIM:613123 OMIM MONDO:0013148 Brugada syndrome 8 oio:hasExactSynonym BRGDA8 OMIM:613123 brugada syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BRGDA8 OMIM:613123 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym dopamine transporter deficiency syndrome OMIM:613135 parkinsonism-dystonia 1, infantile-onset confirmed dopamine transporter deficiency syndrome OMIM:613135 OMIM -MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PKDYS PKDYS pkdys OMIM:613135 parkinsonism-dystonia 1, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PKDYS OMIM:613135 OMIM MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym PARKINSONISM-dystonia, infantile PARKINSONISM-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile confirmed PARKINSONISM-dystonia, infantile OMIMPS:613135 OMIM MONDO:0013150 parkinsonism-dystonia, infantile oio:hasExactSynonym parkinsonism-dystonia, infantile parkinsonism-dystonia, infantile Parkinsonism-dystonia, infantile OMIMPS:613135 Parkinsonism-dystonia, infantile http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed parkinsonism-dystonia, infantile OMIMPS:613135 OMIM MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym choroidal dystrophy, central areolar, 3 OMIM:613144 choroidal dystrophy, central areolar, 3 confirmed choroidal dystrophy, central areolar, 3 OMIM:613144 OMIM MONDO:0013151 choroidal dystrophy, central areolar, 3 oio:hasExactSynonym CACD3 OMIM:613144 choroidal dystrophy, central areolar, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CACD3 OMIM:613144 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 confirmed systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 OMIM MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 oio:hasExactSynonym SLEB14 OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SLEB14 OMIM:613145 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive confirmed inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 OMIM MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease 28, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive confirmed inflammatory bowel disease 28, autosomal recessive OMIM:613148 OMIM MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive confirmed inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 OMIM MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym IBD28 OMIM:613148 inflammatory bowel disease 28, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IBD28 OMIM:613148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013153 inflammatory bowel disease 28 oio:hasExactSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive confirmed inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 OMIM MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related walker-warburg syndrome or muscle-eye-brain disease, pomt2-related OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 confirmed Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related OMIM:613150 OMIM MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 confirmed muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM:613150 OMIM MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 oio:hasExactSynonym MDDGA2 OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDDGA2 OMIM:613150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -72813,7 +70659,6 @@ MONDO:0013306 combined oxidative phosphorylation defect type 7 oio:hasExactSynon MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 oio:hasExactSynonym myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 myopathy, lactic acidosis, and sideroblastic anemia 2 confirmed myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM:613561 OMIM MONDO:0013308 CBL-related disorder oio:hasExactSynonym Cbl syndrome Cbl syndrome cbl syndrome OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia confirmed Cbl syndrome OMIM:613563 OMIM MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome oio:hasExactSynonym chromosome 2p12-p11.2 deletion syndrome OMIM:613564 chromosome 2p12-p11.2 deletion syndrome confirmed chromosome 2p12-p11.2 deletion syndrome OMIM:613564 OMIM -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym EDSS1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EDSS1 OMIM:613573 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym retinitis pigmentosa 55 OMIM:613575 retinitis pigmentosa 55 confirmed retinitis pigmentosa 55 OMIM:613575 OMIM MONDO:0013312 retinitis pigmentosa 55 oio:hasExactSynonym RP55 OMIM:613575 retinitis pigmentosa 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RP55 OMIM:613575 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym EDSS2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EDSS2 OMIM:613576 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -72846,8 +70691,6 @@ MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B oio:hasExactS MONDO:0013339 dilated cardiomyopathy 1GG oio:hasExactSynonym CMD1GG OMIM:613642 cardiomyopathy, dilated, 1gg http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD1GG OMIM:613642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to oio:hasExactSynonym Parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, autosomal dominant, susceptibility to parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to confirmed Parkinson disease 5, autosomal dominant, susceptibility to OMIM:613643 OMIM MONDO:0013342 hereditary spastic paraplegia 48 oio:hasExactSynonym SPG48 OMIM:613647 spastic paraplegia 48, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG48 OMIM:613647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency C1q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 confirmed C1q deficiency OMIM:613652 OMIM -MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency c1q deficiency OMIM:613652 c1q deficiency 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed C1Q deficiency OMIM:613652 OMIM MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1q deficiency OMIMPS:613652 C1q deficiency confirmed C1q deficiency OMIMPS:613652 OMIM MONDO:0013343 C1Q deficiency oio:hasExactSynonym C1Q deficiency C1Q deficiency C1q deficiency OMIMPS:613652 C1q deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed C1Q deficiency OMIMPS:613652 OMIM MONDO:0013345 d-2-hydroxyglutaric aciduria 2 oio:hasExactSynonym d-2-hydroxyglutaric aciduria 2 OMIM:613657 d-2-hydroxyglutaric aciduria 2 confirmed d-2-hydroxyglutaric aciduria 2 OMIM:613657 OMIM @@ -72860,10 +70703,8 @@ MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym N MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Van Asperen syndrome Van Asperen syndrome van asperen syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb confirmed Van Asperen syndrome OMIM:613675 OMIM MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-MB chromosome 17q11.2 deletion syndrome, 1.4-mb OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb confirmed chromosome 17q11.2 deletion syndrome, 1.4-MB OMIM:613675 OMIM MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis 1 microdeletion syndrome OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb confirmed neurofibromatosis 1 microdeletion syndrome OMIM:613675 OMIM -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microduplication syndrome NF1 microduplication syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb confirmed NF1 microduplication syndrome OMIM:618874 OMIM MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym Seckel syndrome 4 Seckel syndrome 4 seckel syndrome 4 OMIM:613676 seckel syndrome 4 confirmed Seckel syndrome 4 OMIM:613676 OMIM MONDO:0013358 Seckel syndrome 4 oio:hasExactSynonym SCKL4 OMIM:613676 seckel syndrome 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCKL4 OMIM:613676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013359 familial hyperaldosteronism type III oio:hasExactSynonym FH3 FH3 fh3 OMIM:603776 hypercholesterolemia, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FH3 OMIM:603776 OMIM MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia type 2 OMIM:613678 brachyolmia type 2 confirmed brachyolmia type 2 OMIM:613678 OMIM MONDO:0013360 brachyolmia, Maroteaux type oio:hasExactSynonym brachyolmia, Maroteaux type brachyolmia, Maroteaux type brachyolmia, maroteaux type OMIM:613678 brachyolmia type 2 confirmed brachyolmia, Maroteaux type OMIM:613678 OMIM MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oio:hasExactSynonym Beaulieu-Boycott-Innes syndrome Beaulieu-Boycott-Innes syndrome beaulieu-boycott-innes syndrome OMIM:613680 beaulieu-boycott-innes syndrome confirmed Beaulieu-Boycott-Innes syndrome OMIM:613680 OMIM @@ -73193,7 +71034,6 @@ MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 oio:hasExactSy MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O oio:hasExactSynonym CMT2O OMIM:614228 charcot-marie-tooth disease, axonal, type 2o http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2O OMIM:614228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 oio:hasExactSynonym SCAR11 OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR11 OMIM:614229 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013646 chromosome 8q21.11 deletion syndrome oio:hasExactSynonym chromosome 8q21.11 deletion syndrome OMIM:614230 chromosome 8q21.11 deletion syndrome confirmed chromosome 8q21.11 deletion syndrome OMIM:614230 OMIM -MONDO:0013648 familial progressive hyperpigmentation oio:hasExactSynonym melanosis universalis hereditaria OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive confirmed melanosis universalis hereditaria OMIM:145250 OMIM MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym hypotrichosis 9 OMIM:614237 hypotrichosis 9 confirmed hypotrichosis 9 OMIM:614237 OMIM MONDO:0013649 hypotrichosis 9 oio:hasExactSynonym HYPT9 hypt9 HYPT9 OMIM:614237 hypotrichosis 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HYPT9 OMIM:614237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013650 hypotrichosis 10 oio:hasExactSynonym hypotrichosis 10 OMIM:614238 hypotrichosis 10 confirmed hypotrichosis 10 OMIM:614238 OMIM @@ -73208,7 +71048,6 @@ MONDO:0013659 microcephaly-capillary malformation syndrome oio:hasExactSynonym MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy oio:hasExactSynonym arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, Perthes disease, and upward gaze palsy arthrogryposis, perthes disease, and upward gaze palsy OMIM:614262 arthrogryposis, perthes disease, and upward gaze palsy confirmed arthrogryposis, Perthes disease, and upward gaze palsy OMIM:614262 OMIM MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym combined malonic and methylmalonic aciduria OMIM:614265 combined malonic and methylmalonic aciduria confirmed combined malonic and methylmalonic aciduria OMIM:614265 OMIM MONDO:0013661 combined malonic and methylmalonic acidemia oio:hasExactSynonym CMAMMA OMIM:614265 combined malonic and methylmalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMAMMA OMIM:614265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013662 Barrett esophagus oio:hasExactSynonym CLE OMIM:130710 emphysema, congenital lobar http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLE OMIM:130710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013662 Barrett esophagus oio:hasExactSynonym Barrett esophagus Barrett esophagus barrett esophagus OMIM:614266 barrett esophagus confirmed Barrett esophagus OMIM:614266 OMIM MONDO:0013663 platelet-activating factor acetylhydrolase deficiency oio:hasExactSynonym platelet-activating factor acetylhydrolase deficiency OMIM:614278 platelet-activating factor acetylhydrolase deficiency confirmed platelet-activating factor acetylhydrolase deficiency OMIM:614278 OMIM MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 confirmed epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280 OMIM @@ -73338,7 +71177,6 @@ MONDO:0013785 intellectual disability, autosomal recessive 34 oio:hasExactSynony MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 confirmed retinal dystrophy with early macular involvement OMIM:614500 OMIM MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym cone-rod dystrophy 16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cone-rod dystrophy 16 OMIM:614500 OMIM MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym CORD16 OMIM:614500 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CORD16 OMIM:614500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013786 cone-rod dystrophy 16 oio:hasExactSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 confirmed retinal dystrophy with early macular involvement OMIM:616502 OMIM MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures confirmed neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures OMIM:614501 OMIM MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism oio:hasExactSynonym psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures confirmed psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 OMIM MONDO:0013788 Usher syndrome type 3B oio:hasExactSynonym USH3B OMIM:614504 usher syndrome, type 3b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed USH3B OMIM:614504 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -73532,7 +71370,6 @@ MONDO:0013976 ectodermal dysplasia 9, hair/nail type oio:hasExactSynonym ectode MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSynonym COXPD13 OMIM:614932 combined oxidative phosphorylation deficiency 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD13 OMIM:614932 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym CILD19 OMIM:614935 ciliary dyskinesia, primary, 19 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CILD19 OMIM:614935 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013980 palmoplantar keratoderma, punctate type ib oio:hasExactSynonym PPKP1B OMIM:614936 palmoplantar keratoderma, punctate type 1b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPKP1B OMIM:614936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013981 myoclonus, familial oio:hasExactSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 confirmed myoclonus, familial cortical OMIM:614937 OMIM MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant confirmed ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 OMIM MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive confirmed ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 OMIM MONDO:0013986 combined oxidative phosphorylation defect type 14 oio:hasExactSynonym COXPD14 OMIM:614946 combined oxidative phosphorylation deficiency 14 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD14 OMIM:614946 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -73547,7 +71384,6 @@ MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 OMIM MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym Joubert syndrome 20 Joubert syndrome 20 joubert syndrome 20 OMIM:614970 joubert syndrome 20 confirmed Joubert syndrome 20 OMIM:614970 OMIM MONDO:0013994 Joubert syndrome 20 oio:hasExactSynonym JBTS20 OMIM:614970 joubert syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JBTS20 OMIM:614970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 oio:hasExactSynonym cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 cholestasis, intrahepatic, of pregnancy 3 confirmed cholestasis, intrahepatic, of pregnancy 3 OMIM:614972 OMIM -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome setleis syndrome OMIM:227260 focal facial dermal dysplasia 3, setleis type confirmed Setleis Syndrome OMIM:227260 OMIM MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, brauer-setleis type OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type confirmed focal facial dermal dysplasia 2, Brauer-Setleis type OMIM:614973 OMIM MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FFDD2 OMIM:614973 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013997 focal facial dermal dysplasia type IV oio:hasExactSynonym focal facial dermal dysplasia 4 OMIM:614974 focal facial dermal dysplasia 4 confirmed focal facial dermal dysplasia 4 OMIM:614974 OMIM @@ -73639,7 +71475,6 @@ MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oio:hasExactSynonym MSPC OMIM:615225 palmoplantar carcinoma, multiple self-healing http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MSPC OMIM:615225 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014090 polydactyly, postaxial, type A6 oio:hasExactSynonym polydactyly, postaxial, type A6 polydactyly, postaxial, type A6 polydactyly, postaxial, type a6 OMIM:615226 polydactyly, postaxial, type a6 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed polydactyly, postaxial, type A6 OMIM:615226 OMIM MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B oio:hasExactSynonym MC5DN4B OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 4b http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MC5DN4B OMIM:615228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014092 schizophrenia 18 oio:hasExactSynonym chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 Duplication syndrome, 362-Kb chromosome 7q36.3 duplication syndrome, 362-kb OMIM:613959 schizophrenia 16 confirmed chromosome 7q36.3 Duplication syndrome, 362-Kb OMIM:613959 OMIM MONDO:0014092 schizophrenia 18 oio:hasExactSynonym schizophrenia 18 OMIM:615232 schizophrenia 18 confirmed schizophrenia 18 OMIM:615232 OMIM MONDO:0014092 schizophrenia 18 oio:hasExactSynonym SCZD18 OMIM:615232 schizophrenia 18 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCZD18 OMIM:615232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014093 retinitis pigmentosa 66 oio:hasExactSynonym retinitis pigmentosa 66 OMIM:615233 retinitis pigmentosa 66 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed retinitis pigmentosa 66 OMIM:615233 OMIM @@ -73723,7 +71558,6 @@ MONDO:0014173 microcephaly 11, primary, autosomal recessive oio:hasExactSynonym MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 oio:hasExactSynonym renal-hepatic-pancreatic dysplasia 2 OMIM:615415 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed renal-hepatic-pancreatic dysplasia 2 OMIM:615415 OMIM MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive confirmed mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM:615418 OMIM MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive oio:hasExactSynonym MTDPS12B OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MTDPS12B OMIM:615418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym IHPRF IHPRF ihprf OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IHPRF OMIM:615419 OMIM MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies oio:hasExactSynonym hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies Hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies confirmed hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS:615419 OMIM MONDO:0014177 myopia 22, autosomal dominant oio:hasExactSynonym myopia 22, autosomal dominant OMIM:615420 myopia 22, autosomal dominant confirmed myopia 22, autosomal dominant OMIM:615420 OMIM MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 oio:hasExactSynonym inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 confirmed inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 OMIM:615422 OMIM @@ -74234,7 +72068,6 @@ MONDO:0014677 achromatopsia 7 oio:hasExactSynonym ACHM7 OMIM:616517 achromato MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym intellectual developmental disorder, autosomal dominant 39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 confirmed intellectual developmental disorder, autosomal dominant 39 OMIM:616521 OMIM MONDO:0014678 intellectual disability, autosomal dominant 39 oio:hasExactSynonym MRD39 OMIM:616521 intellectual developmental disorder, autosomal dominant 39 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MRD39 OMIM:616521 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis oio:hasExactSynonym polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities confirmed polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM:616531 OMIM -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 confirmed herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 OMIM MONDO:0014681 thyroid cancer, nonmedullary, 4 oio:hasExactSynonym thyroid cancer, nonmedullary, 4 OMIM:616534 thyroid cancer, nonmedullary, 4 confirmed thyroid cancer, nonmedullary, 4 OMIM:616534 OMIM MONDO:0014682 thyroid cancer, nonmedullary, 5 oio:hasExactSynonym thyroid cancer, nonmedullary, 5 OMIM:616535 thyroid cancer, nonmedullary, 5 confirmed thyroid cancer, nonmedullary, 5 OMIM:616535 OMIM MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 OMIM:616540 epilepsy, progressive myoclonic, 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPM9 OMIM:616540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -74688,7 +72521,6 @@ MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym Harel-Yoon syndrome Harel MONDO:0014958 Harel-Yoon syndrome oio:hasExactSynonym HAYOS OMIM:617183 harel-yoon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HAYOS OMIM:617183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant confirmed mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184 OMIM MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant oio:hasExactSynonym MTDPS12A OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MTDPS12A OMIM:617184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym PEBEL PEBEL pebel OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PEBEL OMIM:617186 OMIM MONDO:0014960 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy confirmed encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 OMIM MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym spermatogenic failure 16 OMIM:617187 spermatogenic failure 16 confirmed spermatogenic failure 16 OMIM:617187 OMIM MONDO:0014961 spermatogenic failure 16 oio:hasExactSynonym SPGF16 OMIM:617187 spermatogenic failure 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF16 OMIM:617187 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -74722,7 +72554,6 @@ MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:ha MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 oio:hasExactSynonym muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2Z muscular dystrophy, limb-girdle, type 2z OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 confirmed muscular dystrophy, limb-girdle, type 2Z OMIM:617232 OMIM MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym myoclonus, intractable, neonatal OMIM:617235 myoclonus, intractable, neonatal confirmed myoclonus, intractable, neonatal OMIM:617235 OMIM MONDO:0014979 myoclonus, intractable, neonatal oio:hasExactSynonym NEIMY OMIM:617235 myoclonus, intractable, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEIMY OMIM:617235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym CRDHL CRDHL crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CRDHL OMIM:617236 OMIM MONDO:0014980 cone-rod dystrophy and hearing loss oio:hasExactSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cone-rod dystrophy and hearing loss OMIMPS:617236 OMIM MONDO:0014981 immunodeficiency 49 oio:hasExactSynonym IMD49 OMIM:617237 immunodeficiency 49, severe combined http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMD49 OMIM:617237 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014982 myopia 25, autosomal dominant oio:hasExactSynonym myopia 25, autosomal dominant OMIM:617238 myopia 25, autosomal dominant confirmed myopia 25, autosomal dominant OMIM:617238 OMIM @@ -74808,56 +72639,29 @@ MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant oio:hasExactSy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive Muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive confirmed muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600 OMIM MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed arthrogryposis multiplex congenita OMIMPS:617468 OMIM MONDO:0015229 Bardet-Biedl syndrome oio:hasExactSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bardet-Biedl syndrome OMIMPS:209900 OMIM -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Aase syndrome Aase syndrome aase syndrome OMIM:105650 diamond-blackfan anemia 1 confirmed Aase syndrome OMIM:105650 OMIM -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 confirmed erythrogenesis imperfecta OMIM:105650 OMIM -MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DBA OMIM:105650 OMIM MONDO:0015253 Diamond-Blackfan anemia oio:hasExactSynonym Diamond-Blackfan anemia OMIMPS:105650 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Diamond-Blackfan anemia OMIMPS:105650 OMIM -MONDO:0015263 Brugada syndrome oio:hasExactSynonym right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, ST segment elevation, and sudden death syndrome right bundle branch block, st segment elevation, and sudden death syndrome OMIM:601144 brugada syndrome 1 confirmed right bundle branch block, ST segment elevation, and sudden death syndrome OMIM:601144 OMIM -MONDO:0015263 Brugada syndrome oio:hasExactSynonym sudden unexplained nocturnal death syndrome OMIM:601144 brugada syndrome 1 confirmed sudden unexplained nocturnal death syndrome OMIM:601144 OMIM MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome OMIMPS:601144 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brugada syndrome OMIMPS:601144 OMIM -MONDO:0015267 Feingold syndrome oio:hasExactSynonym ODED syndrome ODED syndrome oded syndrome OMIM:164280 feingold syndrome 1 confirmed ODED syndrome OMIM:164280 OMIM -MONDO:0015267 Feingold syndrome oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 feingold syndrome 1 confirmed digital anomalies with short palpebral fissures and atresia of esophagus or duodenum OMIM:164280 OMIM -MONDO:0015267 Feingold syndrome oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 confirmed microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 OMIM MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym butyrylcholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed butyrylcholinesterase deficiency OMIM:617936 OMIM -MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym CMC OMIM:163000 capillary malformations, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMC OMIM:163000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0015279 chronic mucocutaneous candidiasis oio:hasExactSynonym familial candidiasis familial candidiasis Familial candidiasis OMIMPS:114580 Familial candidiasis confirmed familial candidiasis OMIMPS:114580 OMIM -MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 confirmed CFC syndrome OMIM:115150 OMIM MONDO:0015280 cardiofaciocutaneous syndrome oio:hasExactSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cardiofaciocutaneous syndrome OMIMPS:115150 OMIM MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym Nf1 Microduplication Syndrome Nf1 Microduplication Syndrome nf1 microduplication syndrome OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb confirmed Nf1 Microduplication Syndrome OMIM:618874 OMIM MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb confirmed chromosome 17q11.2 duplication syndrome, 1.4-mb OMIM:618874 OMIM MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym HMN 5A HMN 5A hmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 confirmed HMN 5A OMIM:600794 OMIM MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym dHMN 5A dHMN 5A dhmn 5a OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 confirmed dHMN 5A OMIM:600794 OMIM MONDO:0015353 neuronopathy, distal hereditary motor, type 5A oio:hasExactSynonym spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 confirmed spinal muscular atrophy, distal, with upper limb predominance OMIM:600794 OMIM -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym indifference to pain, Congenital, autosomal recessive indifference to pain, Congenital, autosomal recessive indifference to pain, congenital, autosomal recessive OMIM:243000 indifference to pain, congenital, autosomal recessive confirmed indifference to pain, Congenital, autosomal recessive OMIM:243000 OMIM -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP OMIM:243000 indifference to pain, congenital, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIP OMIM:243000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy OMIMPS:162400 Hereditary sensory and autonomic neuropathy confirmed hereditary sensory and autonomic neuropathy OMIMPS:162400 OMIM -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD OFD ofd OMIM:607278 osteofibrous dysplasia, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD OMIM:607278 OMIM MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome OMIMPS:311200 Orofaciodigital syndrome confirmed orofaciodigital syndrome OMIMPS:311200 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym Goldenhar syndrome Goldenhar syndrome goldenhar syndrome OMIM:164210 craniofacial microsomia 1 confirmed Goldenhar syndrome OMIM:164210 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym OAV dysplasia OAV dysplasia oav dysplasia OMIM:164210 craniofacial microsomia 1 confirmed OAV dysplasia OMIM:164210 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym hemifacial microsomia OMIM:164210 craniofacial microsomia 1 confirmed hemifacial microsomia OMIM:164210 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral dysplasia OMIM:164210 craniofacial microsomia 1 confirmed oculoauriculovertebral dysplasia OMIM:164210 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oculoauriculovertebral spectrum OMIM:164210 craniofacial microsomia 1 confirmed oculoauriculovertebral spectrum OMIM:164210 OMIM -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 confirmed desbuquois syndrome OMIM:251450 OMIM -MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 confirmed micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 OMIM MONDO:0015426 Desbuquois dysplasia oio:hasExactSynonym Desbuquois dysplasia OMIMPS:251450 Desbuquois dysplasia confirmed Desbuquois dysplasia OMIMPS:251450 OMIM -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 confirmed fifth digit syndrome OMIM:135900 OMIM -MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome Coffin-Siris syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Coffin-Siris syndrome OMIM:135900 OMIM MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Coffin-Siris syndrome OMIMPS:135900 OMIM MONDO:0015486 keratoconus oio:hasExactSynonym keratoconus keratoconus Keratoconus OMIMPS:148300 Keratoconus confirmed keratoconus OMIMPS:148300 OMIM -MONDO:0015526 cold-induced sweating syndrome oio:hasExactSynonym Sohar-Crisponi syndrome Sohar-Crisponi syndrome sohar-crisponi syndrome OMIM:272430 crisponi/cold-induced sweating syndrome 1 confirmed Sohar-Crisponi syndrome OMIM:272430 OMIM MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym Van Esch-O'Driscoll syndrome Van Esch-O'Driscoll syndrome van esch-o'driscoll syndrome OMIM:301030 van esch-o'driscoll syndrome confirmed Van Esch-O'Driscoll syndrome OMIM:301030 OMIM MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type mental retardation, x-linked, syndromic, van esch-o'driscoll type OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type OMIM:301030 OMIM MONDO:0015601 X-linked intellectual disability, van Esch type oio:hasExactSynonym VEODS OMIM:301030 van esch-o'driscoll syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VEODS OMIM:301030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym peroneal muscular atrophy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b confirmed peroneal muscular atrophy OMIM:118200 OMIM MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease OMIMPS:118220 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease OMIMPS:118220 OMIM MONDO:0015643 photosensitive epilepsy oio:hasExactSynonym photoparoxysmal response photoparoxysmal response Photoparoxysmal response OMIMPS:132100 Photoparoxysmal response confirmed photoparoxysmal response OMIMPS:132100 OMIM MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency oio:hasExactSynonym vitamin K-dependent clotting factors, combined deficiency of vitamin K-dependent clotting factors, combined deficiency of Vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of confirmed vitamin K-dependent clotting factors, combined deficiency of OMIMPS:277450 OMIM -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym White sponge nevus of Cannon White sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 confirmed White sponge nevus of Cannon OMIM:193900 OMIM -MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus of Cannon white sponge nevus of Cannon white sponge nevus of cannon OMIM:193900 white sponge nevus 1 confirmed white sponge nevus of Cannon OMIM:193900 OMIM MONDO:0015748 hereditary mucosal leukokeratosis oio:hasExactSynonym white sponge nevus white sponge nevus White sponge nevus OMIMPS:193900 White sponge nevus confirmed white sponge nevus OMIMPS:193900 OMIM MONDO:0015762 progressive familial intrahepatic cholestasis oio:hasExactSynonym cholestasis, progressive familial intrahepatic cholestasis, progressive familial intrahepatic Cholestasis, progressive familial intrahepatic OMIMPS:211600 Cholestasis, progressive familial intrahepatic confirmed cholestasis, progressive familial intrahepatic OMIMPS:211600 OMIM -MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 confirmed chondrodysplasia punctata, rhizomelic form OMIM:215100 OMIM MONDO:0015776 rhizomelic chondrodysplasia punctata oio:hasExactSynonym rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata OMIMPS:215100 Rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed rhizomelic chondrodysplasia punctata OMIMPS:215100 OMIM MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym dyskeratosis congenita dyskeratosis congenita Dyskeratosis congenita OMIMPS:127550 Dyskeratosis congenita http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed dyskeratosis congenita OMIMPS:127550 OMIM MONDO:0015827 distal renal tubular acidosis oio:hasExactSynonym distal renal tubular acidosis distal renal tubular acidosis Distal renal tubular acidosis OMIMPS:179800 Distal renal tubular acidosis confirmed distal renal tubular acidosis OMIMPS:179800 OMIM @@ -74872,23 +72676,18 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 OMIM MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia OMIMPS:305620 Frontometaphyseal dysplasia confirmed frontometaphyseal dysplasia OMIMPS:305620 OMIM MONDO:0015977 agammaglobulinemia oio:hasExactSynonym agammaglobulinemia agammaglobulinemia Agammaglobulinemia OMIMPS:601495 Agammaglobulinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed agammaglobulinemia OMIMPS:601495 OMIM -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym cone-rod retinal dystrophy OMIM:120970 cone-rod dystrophy 2 confirmed cone-rod retinal dystrophy OMIM:120970 OMIM MONDO:0015999 primary pigmented nodular adrenocortical disease oio:hasExactSynonym pigmented nodular adrenocortical disease, primary pigmented nodular adrenocortical disease, primary Pigmented nodular adrenocortical disease, primary OMIMPS:610489 Pigmented nodular adrenocortical disease, primary confirmed pigmented nodular adrenocortical disease, primary OMIMPS:610489 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym EDS 6 EDS 6 eds 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 confirmed EDS 6 OMIM:225400 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym Ehlers-Danlos syndrome, type 6 Ehlers-Danlos syndrome, type 6 ehlers-danlos syndrome, type 6 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 confirmed Ehlers-Danlos syndrome, type 6 OMIM:225400 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym nevo syndrome OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed nevo syndrome OMIM:225400 OMIM MONDO:0016027 benign neonatal seizures oio:hasExactSynonym seizures, benign familial neonatal seizures, benign familial neonatal Seizures, benign familial neonatal OMIMPS:121200 Seizures, benign familial neonatal confirmed seizures, benign familial neonatal OMIMPS:121200 OMIM -MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Brachmann-de Lange syndrome Brachmann-de Lange syndrome brachmann-de lange syndrome OMIM:122470 cornelia lange lange syndrome 1 confirmed Brachmann-de Lange syndrome OMIM:122470 OMIM MONDO:0016033 Cornelia de Lange syndrome oio:hasExactSynonym Cornelia de Lange syndrome OMIMPS:122470 Cornelia de Lange syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Cornelia de Lange syndrome OMIMPS:122470 OMIM -MONDO:0016063 Cowden disease oio:hasExactSynonym multiple hamartoma syndrome OMIM:158350 cowden syndrome 1 confirmed multiple hamartoma syndrome OMIM:158350 OMIM MONDO:0016063 Cowden disease oio:hasExactSynonym Cowden disease OMIMPS:158350 Cowden disease confirmed Cowden disease OMIMPS:158350 OMIM MONDO:0016073 syndromic microphthalmia oio:hasExactSynonym microphthalmia, syndromic microphthalmia, syndromic Microphthalmia, syndromic OMIMPS:309800 Microphthalmia, syndromic confirmed microphthalmia, syndromic OMIMPS:309800 OMIM MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym SCA7 OMIM:164500 spinocerebellar ataxia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA7 OMIM:164500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym spastic quadriplegic cerebral palsy spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy OMIMPS:612900 Spastic quadriplegic cerebral palsy confirmed spastic quadriplegic cerebral palsy OMIMPS:612900 OMIM MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym episodic ataxia episodic ataxia Episodic ataxia OMIMPS:160120 Episodic ataxia confirmed episodic ataxia OMIMPS:160120 OMIM -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym AHC OMIM:300200 adrenal hypoplasia, congenital http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHC OMIM:300200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym alternating hemiplegia of childhood alternating hemiplegia of childhood Alternating hemiplegia of childhood OMIMPS:104290 Alternating hemiplegia of childhood confirmed alternating hemiplegia of childhood OMIMPS:104290 OMIM -MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 confirmed Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 OMIM MONDO:0016256 Hennekam syndrome oio:hasExactSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome confirmed Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 OMIM MONDO:0016293 congenital stationary night blindness oio:hasExactSynonym night blindness, congenital stationary night blindness, congenital stationary Night blindness, congenital stationary OMIMPS:310500 Night blindness, congenital stationary confirmed night blindness, congenital stationary OMIMPS:310500 OMIM MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym Hirschsprung disease with type d brachydactyly Hirschsprung disease with type d brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly confirmed Hirschsprung disease with type d brachydactyly OMIM:306980 OMIM @@ -74901,37 +72700,21 @@ MONDO:0016381 hypertrichosis lanuginosa congenita oio:hasExactSynonym hypertric MONDO:0016390 familial hypoparathyroidism oio:hasExactSynonym hypoparathyroidism, familial hypoparathyroidism, familial Hypoparathyroidism, familial OMIMPS:146200 Hypoparathyroidism, familial confirmed hypoparathyroidism, familial OMIMPS:146200 OMIM MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome OMIMPS:609322 Rhabdoid tumor predisposition syndrome confirmed rhabdoid tumor predisposition syndrome OMIMPS:609322 OMIM MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym aneurysm, intracranial berry aneurysm, intracranial berry Aneurysm, intracranial berry OMIMPS:105800 Aneurysm, intracranial berry confirmed aneurysm, intracranial berry OMIMPS:105800 OMIM -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Kabuki make-up syndrome Kabuki make-up syndrome kabuki make-up syndrome OMIM:147920 kabuki syndrome 1 confirmed Kabuki make-up syndrome OMIM:147920 OMIM -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 confirmed Niikawa-Kuroki syndrome OMIM:147920 OMIM -MONDO:0016512 Kabuki syndrome oio:hasExactSynonym KMS KMS kms OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KMS OMIM:308700 OMIM -MONDO:0016516 Kenny-Caffey syndrome oio:hasExactSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 confirmed Kenny syndrome OMIM:127000 OMIM MONDO:0016537 lymphoproliferative syndrome oio:hasExactSynonym lymphoproliferative syndrome lymphoproliferative syndrome Lymphoproliferative syndrome OMIMPS:308240 Lymphoproliferative syndrome confirmed lymphoproliferative syndrome OMIMPS:308240 OMIM -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD PCD pcd OMIM:244400 ciliary dyskinesia, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD OMIM:244400 OMIM -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly OMIM:183600 split-hand/foot malformation 1 confirmed ectrodactyly OMIM:183600 OMIM -MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand deformity OMIM:183600 split-hand/foot malformation 1 confirmed split-hand deformity OMIM:183600 OMIM MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot malformation split-hand/foot malformation Split-hand/foot malformation OMIMPS:183600 Split-hand/foot malformation confirmed split-hand/foot malformation OMIMPS:183600 OMIM MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym conotruncal heart malformations OMIM:217095 conotruncal heart malformations confirmed conotruncal heart malformations OMIM:217095 OMIM MONDO:0016584 mandibuloacral dysplasia oio:hasExactSynonym mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia with lipodystrophy Mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy confirmed mandibuloacral dysplasia with lipodystrophy OMIMPS:248370 OMIM -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym Mabry syndrome Mabry syndrome mabry syndrome OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 confirmed Mabry syndrome OMIM:239300 OMIM MONDO:0016596 hyperphosphatasia-intellectual disability syndrome oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome hyperphosphatasia with mental retardation syndrome Hyperphosphatasia with mental retardation syndrome OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed hyperphosphatasia with mental retardation syndrome OMIMPS:239300 OMIM -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 confirmed Touraine-Solente-Gole syndrome OMIM:259100 OMIM MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym hypertropic osteoarthropathy, primary hypertropic osteoarthropathy, primary Hypertropic osteoarthropathy, primary OMIMPS:259100 Hypertropic osteoarthropathy, primary confirmed hypertropic osteoarthropathy, primary OMIMPS:259100 OMIM -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome Warburg micro syndrome warburg micro syndrome OMIM:600118 warburg micro syndrome 1 confirmed Warburg micro syndrome OMIM:600118 OMIM -MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 confirmed micro syndrome OMIM:600118 OMIM MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym Warburg micro syndrome OMIMPS:600118 Warburg micro syndrome confirmed Warburg micro syndrome OMIMPS:600118 OMIM MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym DA10 OMIM:187370 arthrogryposis, distal, type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DA10 OMIM:187370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondylometaphyseal dysplasia OMIM:184250 OMIM MONDO:0016763 spondylometaphyseal dysplasia oio:hasExactSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondylometaphyseal dysplasia OMIMPS:184255 OMIM -MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 confirmed Meier-Gorlin syndrome OMIM:224690 OMIM MONDO:0016817 Meier-Gorlin syndrome oio:hasExactSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome confirmed Meier-Gorlin syndrome OMIMPS:224690 OMIM MONDO:0016824 infantile myofibromatosis oio:hasExactSynonym infantile myofibromatosis infantile myofibromatosis Infantile myofibromatosis OMIMPS:228550 Infantile myofibromatosis confirmed infantile myofibromatosis OMIMPS:228550 OMIM MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome oio:hasExactSynonym mitochondrial myopathy with lactic acidosis OMIM:251950 mitochondrial myopathy with lactic acidosis confirmed mitochondrial myopathy with lactic acidosis OMIM:251950 OMIM MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreifuss muscular dystrophy OMIMPS:310300 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Emery-Dreifuss muscular dystrophy OMIMPS:310300 OMIM -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym ARC syndrome ARC syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 confirmed ARC syndrome OMIM:208085 OMIM MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome oio:hasExactSynonym arthrogryposis, renal dysfunction, and cholestasis arthrogryposis, renal dysfunction, and cholestasis Arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis confirmed arthrogryposis, renal dysfunction, and cholestasis OMIMPS:208085 OMIM MONDO:0017169 multiple endocrine neoplasia oio:hasExactSynonym multiple endocrine neoplasia multiple endocrine neoplasia Multiple endocrine neoplasia OMIMPS:131100 Multiple endocrine neoplasia confirmed multiple endocrine neoplasia OMIMPS:131100 OMIM -MONDO:0017195 Bruck syndrome oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures OMIM:609220 bruck syndrome 2 confirmed osteogenesis imperfecta with congenital joint contractures OMIM:609220 OMIM MONDO:0017265 autosomal recessive congenital ichthyosis oio:hasExactSynonym ichthyosis, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive Ichthyosis, congenital, autosomal recessive OMIMPS:242300 Ichthyosis, congenital, autosomal recessive confirmed ichthyosis, congenital, autosomal recessive OMIMPS:242300 OMIM MONDO:0017312 Perrault syndrome oio:hasExactSynonym Perrault syndrome OMIMPS:233400 Perrault syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Perrault syndrome OMIMPS:233400 OMIM MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome confirmed multiple mitochondrial dysfunctions syndrome OMIMPS:605711 OMIM @@ -74939,9 +72722,7 @@ MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile intestin MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym polyposis, juvenile intestinal OMIM:174900 juvenile polyposis syndrome confirmed polyposis, juvenile intestinal OMIM:174900 OMIM MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym juvenile polyposis syndrome OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed juvenile polyposis syndrome OMIM:174900 OMIM MONDO:0017380 juvenile polyposis syndrome oio:hasExactSynonym JPS jPS JPS OMIM:174900 juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JPS OMIM:174900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0017398 3MC syndrome oio:hasExactSynonym oculopalatoskeletal syndrome OMIM:257920 3mc syndrome 1 confirmed oculopalatoskeletal syndrome OMIM:257920 OMIM MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym Mitchell-Riley syndrome Mitchell-Riley syndrome mitchell-riley syndrome OMIM:615710 mitchell-riley syndrome confirmed Mitchell-Riley syndrome OMIM:615710 OMIM -MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS LCCS lccs OMIM:253310 lethal congenital contracture syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCCS OMIM:253310 OMIM MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome oio:hasExactSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly confirmed TPT-PS syndrome OMIM:190605 OMIM MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym Baraitser-Winter syndrome OMIMPS:243310 Baraitser-Winter syndrome confirmed Baraitser-Winter syndrome OMIMPS:243310 OMIM MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex OMIMPS:131760 Epidermolysis Bullosa Simplex confirmed epidermolysis bullosa simplex OMIMPS:131760 OMIM @@ -74950,27 +72731,15 @@ MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:h MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym polyposis, gastric OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach confirmed polyposis, gastric OMIM:619182 OMIM MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym GAPPS OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GAPPS OMIM:619182 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome OMIMPS:601390 Van Maldergem syndrome confirmed Van Maldergem syndrome OMIMPS:601390 OMIM -MONDO:0017838 sclerosteosis oio:hasExactSynonym cortical hyperostosis with syndactyly OMIM:269500 sclerosteosis 1 confirmed cortical hyperostosis with syndactyly OMIM:269500 OMIM -MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 confirmed renal-retinal syndrome OMIM:266900 OMIM -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed erythrokeratodermia variabilis OMIM:133200 OMIM MONDO:0017868 diencephalic-mesencephalic junction dysplasia oio:hasExactSynonym diencephalic-mesencephalic junction dysplasia syndrome diencephalic-mesencephalic junction dysplasia syndrome Diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome confirmed diencephalic-mesencephalic junction dysplasia syndrome OMIMPS:251280 OMIM MONDO:0017896 familial nonmedullary thyroid carcinoma oio:hasExactSynonym thyroid cancer, nonmedullary thyroid cancer, nonmedullary Thyroid cancer, nonmedullary OMIMPS:188550 Thyroid cancer, nonmedullary confirmed thyroid cancer, nonmedullary OMIMPS:188550 OMIM -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC EEC eec OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EEC OMIM:129900 OMIM MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex OEIS complex oeis complex OMIM:258040 oeis complex confirmed OEIS complex OMIM:258040 OMIM -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome WL syndrome wl syndrome OMIM:186500 multiple synostoses syndrome 1 confirmed WL syndrome OMIM:186500 OMIM -MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-brachydactyly syndrome OMIM:186500 multiple synostoses syndrome 1 confirmed symphalangism-brachydactyly syndrome OMIM:186500 OMIM MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic Ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic confirmed ventricular tachycardia, catecholaminergic polymorphic OMIMPS:604772 OMIM MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Takayasu arteritis takayasu arteritis OMIM:207600 takayasu arteritis confirmed Takayasu arteritis OMIM:207600 OMIM MONDO:0017991 Takayasu arteritis oio:hasExactSynonym aortic arch syndrome OMIM:207600 takayasu arteritis confirmed aortic arch syndrome OMIM:207600 OMIM MONDO:0018023 hemoglobin M disease oio:hasExactSynonym methemoglobinemia, beta type OMIM:617971 methemoglobinemia, beta type confirmed methemoglobinemia, beta type OMIM:617971 OMIM MONDO:0018037 hyper-IgE syndrome oio:hasExactSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome confirmed hyper-IgE recurrent infection syndrome OMIMPS:147060 OMIM MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome OMIMPS:193500 Waardenburg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Waardenburg syndrome OMIMPS:193500 OMIM -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 confirmed mesodermal Dysmorphodystrophy, congenital OMIM:277600 OMIM -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 confirmed spherophakia-brachymorphia syndrome OMIM:277600 OMIM -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 confirmed mesodermal Dysmorphodystrophy, congenital OMIM:608328 OMIM -MONDO:0018096 Weill-Marchesani syndrome oio:hasExactSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 confirmed spherophakia-brachymorphia syndrome OMIM:608328 OMIM -MONDO:0018100 familial primary hypomagnesemia oio:hasExactSynonym HOMG HOMG homg OMIM:602014 hypomagnesemia 1, intestinal http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HOMG OMIM:602014 OMIM -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency OMIM:278300 xanthinuria, type 1 confirmed xanthine dehydrogenase deficiency OMIM:278300 OMIM MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia confirmed galactosemia OMIMPS:230400 OMIM MONDO:0018130 brain dopamine-serotonin vesicular transport disease oio:hasExactSynonym PKDYS2 OMIM:618049 parkinsonism-dystonia 2, infantile-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PKDYS2 OMIM:618049 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018151 coenzyme Q10 deficiency oio:hasExactSynonym coenzyme Q10 deficiency, primary coenzyme Q10 deficiency, primary Coenzyme Q10 deficiency, primary OMIMPS:607426 Coenzyme Q10 deficiency, primary confirmed coenzyme Q10 deficiency, primary OMIMPS:607426 OMIM @@ -74982,7 +72751,6 @@ MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type 2a OMIM:219200 cutis laxa, autosomal recessive, type 2a confirmed cutis laxa, autosomal recessive, type 2A OMIM:219200 OMIM MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym cutis laxa, debre type OMIM:219200 cutis laxa, autosomal recessive, type 2a confirmed cutis laxa, debre type OMIM:219200 OMIM MONDO:0018163 autosomal recessive cutis laxa type 2A oio:hasExactSynonym ARCL2A OMIM:219200 cutis laxa, autosomal recessive, type 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARCL2A OMIM:219200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy oio:hasExactSynonym SMALED SMALED smaled OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMALED OMIM:158600 OMIM MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym epilepsy, generalized, with febrile seizures plus epilepsy, generalized, with febrile seizures plus Epilepsy, generalized, with febrile seizures plus OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus confirmed epilepsy, generalized, with febrile seizures plus OMIMPS:604233 OMIM MONDO:0018264 oculocutaneous albinism type 6 oio:hasExactSynonym OCA6 OMIM:113750 albinism, oculocutaneous, type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCA6 OMIM:113750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym Amish infantile epilepsy syndrome Amish infantile epilepsy syndrome amish infantile epilepsy syndrome OMIM:609056 salt and pepper developmental regression syndrome confirmed Amish infantile epilepsy syndrome OMIM:609056 OMIM @@ -74990,10 +72758,7 @@ MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym epilepsy syndrome, in MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym salt and pepper developmental regression syndrome OMIM:609056 salt and pepper developmental regression syndrome confirmed salt and pepper developmental regression syndrome OMIM:609056 OMIM MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym GM3 synthase deficiency GM3 synthase deficiency gm3 synthase deficiency OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed GM3 synthase deficiency OMIM:609056 OMIM MONDO:0018274 GM3 synthase deficiency oio:hasExactSynonym SPDRS OMIM:609056 salt and pepper developmental regression syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPDRS OMIM:609056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym CGD CGD cgd OMIM:306400 granulomatous disease, chronic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CGD OMIM:306400 OMIM MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation OMIMPS:234200 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed neurodegeneration with brain iron accumulation OMIMPS:234200 OMIM -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 confirmed Hirschsprung disease OMIM:142623 OMIM -MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 confirmed aganglionic megacolon OMIM:142623 OMIM MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease confirmed Hirschsprung disease OMIMPS:142623 OMIM MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis langerhans cell histiocytosis OMIM:604856 langerhans cell histiocytosis confirmed Langerhans cell histiocytosis OMIM:604856 OMIM MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH LCH lch OMIM:604856 langerhans cell histiocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCH OMIM:604856 OMIM @@ -75002,13 +72767,8 @@ MONDO:0018382 epiphysiolysis of the hip oio:hasExactSynonym slipped femoral cap MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor confirmed global developmental delay, lung cysts, overgrowth, and wilms tumor OMIM:618272 OMIM MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym glow syndrome OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor confirmed glow syndrome OMIM:618272 OMIM MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome oio:hasExactSynonym GLOW OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GLOW OMIM:618272 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018470 renal agenesis oio:hasExactSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 confirmed hereditary renal aplasia OMIM:191830 OMIM -MONDO:0018470 renal agenesis oio:hasExactSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 confirmed renal adysplasia OMIM:191830 OMIM -MONDO:0018470 renal agenesis oio:hasExactSynonym renal agenesis OMIM:191830 renal hypodysplasia/aplasia 1 confirmed renal agenesis OMIM:191830 OMIM -MONDO:0018470 renal agenesis oio:hasExactSynonym renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 confirmed renal aplasia OMIM:191830 OMIM MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym Broad-betalipoproteinemia Broad-betalipoproteinemia broad-betalipoproteinemia OMIM:617347 hyperlipoproteinemia, type 3 confirmed Broad-betalipoproteinemia OMIM:617347 OMIM MONDO:0018542 severe congenital neutropenia oio:hasExactSynonym neutropenia, severe congenital neutropenia, severe congenital Neutropenia, severe congenital OMIMPS:202700 Neutropenia, severe congenital confirmed neutropenia, severe congenital OMIMPS:202700 OMIM -MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym sudanophilic cerebral sclerosis OMIM:272100 sudanophilic cerebral sclerosis confirmed sudanophilic cerebral sclerosis OMIM:272100 OMIM MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym Siemerling-Creutzfeldt disease Siemerling-Creutzfeldt disease siemerling-creutzfeldt disease OMIM:300100 adrenoleukodystrophy confirmed Siemerling-Creutzfeldt disease OMIM:300100 OMIM MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym X-ALD X-ALD x-ald OMIM:300100 adrenoleukodystrophy confirmed X-ALD OMIM:300100 OMIM MONDO:0018544 adrenoleukodystrophy oio:hasExactSynonym adrenoleukodystrophy OMIM:300100 adrenoleukodystrophy confirmed adrenoleukodystrophy OMIM:300100 OMIM @@ -75024,12 +72784,8 @@ MONDO:0018677 visceral heterotaxy oio:hasExactSynonym heterotaxy, visceral hete MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome Adie Syndrome adie syndrome OMIM:103100 adie pupil confirmed Adie Syndrome OMIM:103100 OMIM MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie pupil Adie pupil adie pupil OMIM:103100 adie pupil confirmed Adie pupil OMIM:103100 OMIM MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Adie syndrome adie syndrome OMIM:103100 adie pupil confirmed Adie syndrome OMIM:103100 OMIM -MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym FCAS FCAS fcas OMIM:120100 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FCAS OMIM:120100 OMIM MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome OMIMPS:120100 Familial cold autoinflammatory syndrome confirmed familial cold autoinflammatory syndrome OMIMPS:120100 OMIM -MONDO:0018770 Jeune syndrome oio:hasExactSynonym Jeune syndrome Jeune syndrome jeune syndrome OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly confirmed Jeune syndrome OMIM:208500 OMIM MONDO:0018770 Jeune syndrome oio:hasExactSynonym short-rib thoracic dysplasia short-rib thoracic dysplasia Short-rib thoracic dysplasia OMIMPS:208500 Short-rib thoracic dysplasia confirmed short-rib thoracic dysplasia OMIMPS:208500 OMIM -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 confirmed Joubert-Boltshauser syndrome OMIM:213300 OMIM -MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Joubert syndrome OMIM:213300 OMIM MONDO:0018772 Joubert syndrome oio:hasExactSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Joubert syndrome OMIMPS:213300 OMIM MONDO:0018805 bile duct cyst oio:hasExactSynonym bile duct cysts OMIM:603003 bile duct cysts confirmed bile duct cysts OMIM:603003 OMIM MONDO:0018805 bile duct cyst oio:hasExactSynonym choledochal cysts OMIM:603003 bile duct cysts confirmed choledochal cysts OMIM:603003 OMIM @@ -75041,33 +72797,25 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly OMIMPS:607432 Lissencephaly confirmed lissencephaly OMIMPS:607432 OMIM MONDO:0018841 congenital bile acid synthesis defect oio:hasExactSynonym bile acid synthesis defect, congenital bile acid synthesis defect, congenital Bile acid synthesis defect, congenital OMIMPS:607765 Bile acid synthesis defect, congenital confirmed bile acid synthesis defect, congenital OMIMPS:607765 OMIM MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym keratosis pilaris atrophicans OMIM:604093 keratosis pilaris atrophicans confirmed keratosis pilaris atrophicans OMIM:604093 OMIM -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym Cree encephalitis Cree encephalitis cree encephalitis OMIM:225750 aicardi-goutieres syndrome 1 confirmed Cree encephalitis OMIM:225750 OMIM -MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym idiopathic infantile arterial calcification OMIM:208000 arterial calcification, generalized, of infancy, 1 confirmed idiopathic infantile arterial calcification OMIM:208000 OMIM MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym Generalized Arterial Calcification of Infancy Generalized Arterial Calcification of Infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy confirmed Generalized Arterial Calcification of Infancy OMIMPS:208000 OMIM MONDO:0018870 arterial calcification of infancy oio:hasExactSynonym generalized arterial calcification of infancy generalized arterial calcification of infancy Generalized arterial calcification of infancy OMIMPS:208000 Generalized arterial calcification of infancy confirmed generalized arterial calcification of infancy OMIMPS:208000 OMIM MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML OMIM:601626 leukemia, acute myeloid http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AML OMIM:601626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym SBLA syndrome SBLA syndrome sbla syndrome OMIM:151623 li-fraumeni syndrome confirmed SBLA syndrome OMIM:151623 OMIM MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome li-fraumeni syndrome OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Li-Fraumeni syndrome OMIM:151623 OMIM MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym LFS OMIM:151623 li-fraumeni syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LFS OMIM:151623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018878 branchiootic syndrome oio:hasExactSynonym branchiootic dysplasia OMIM:602588 branchiootic syndrome 1 confirmed branchiootic dysplasia OMIM:602588 OMIM -MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS MDS mds OMIM:247200 miller-dieker lissencephaly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS OMIM:247200 OMIM MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym myelodysplastic syndrome OMIM:614286 myelodysplastic syndrome confirmed myelodysplastic syndrome OMIM:614286 OMIM MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym MDS OMIM:614286 myelodysplastic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS OMIM:614286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym Mason-type diabetes Mason-type diabetes mason-type diabetes OMIM:606391 maturity-onset diabetes of the young confirmed Mason-type diabetes OMIM:606391 OMIM MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym maturity-onset diabetes of the young OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed maturity-onset diabetes of the young OMIM:606391 OMIM MONDO:0018911 maturity-onset diabetes of the young oio:hasExactSynonym MODY OMIM:606391 maturity-onset diabetes of the young http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MODY OMIM:606391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS OMIM:174800 mccune-albright syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS OMIM:174800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 confirmed Meckel-Gruber syndrome OMIM:249000 OMIM MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym ML 3 alpha/beta ML 3 alpha/beta ml 3 alpha/beta OMIM:252600 mucolipidosis 3 alpha/beta confirmed ML 3 alpha/beta OMIM:252600 OMIM MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym pseudo-Hurler polydystrophy pseudo-Hurler polydystrophy pseudo-hurler polydystrophy OMIM:252600 mucolipidosis 3 alpha/beta confirmed pseudo-Hurler polydystrophy OMIM:252600 OMIM MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym myasthenic syndrome, congenital myasthenic syndrome, congenital Myasthenic syndrome, congenital OMIMPS:601462 Myasthenic syndrome, congenital confirmed myasthenic syndrome, congenital OMIMPS:601462 OMIM MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym McLeod syndrome McLeod syndrome mcleod syndrome OMIM:300842 mcleod syndrome confirmed McLeod syndrome OMIM:300842 OMIM MONDO:0018947 centronuclear myopathy oio:hasExactSynonym myopathy, centronuclear myopathy, centronuclear Myopathy, centronuclear OMIMPS:160150 Myopathy, centronuclear confirmed myopathy, centronuclear OMIMPS:160150 OMIM -MONDO:0018953 parietal foramina oio:hasExactSynonym catlin marks OMIM:168500 parietal foramina 1 confirmed catlin marks OMIM:168500 OMIM -MONDO:0018953 parietal foramina oio:hasExactSynonym foramina parietalia permagna OMIM:168500 parietal foramina 1 confirmed foramina parietalia permagna OMIM:168500 OMIM MONDO:0018953 parietal foramina oio:hasExactSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed parietal foramina OMIMPS:168500 OMIM MONDO:0018954 Loeys-Dietz syndrome oio:hasExactSynonym Loeys-Dietz syndrome OMIMPS:609192 Loeys-Dietz syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Loeys-Dietz syndrome OMIMPS:609192 OMIM -MONDO:0018958 nemaline myopathy oio:hasExactSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018958 nemaline myopathy oio:hasExactSynonym nemaline myopathy nemaline myopathy Nemaline myopathy OMIMPS:161800 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed nemaline myopathy OMIMPS:161800 OMIM MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome OMIMPS:301050 Alport syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Alport syndrome OMIMPS:301050 OMIM MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis, type 1 OMIM:162200 neurofibromatosis, type 1 confirmed neurofibromatosis, type 1 OMIM:162200 OMIM @@ -75075,21 +72823,13 @@ MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym NF1 OMIM:162200 ne MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-ocular apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 confirmed ataxia-ocular apraxia 2 OMIM:606002 OMIM MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym ataxia-oculomotor apraxia 2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 confirmed ataxia-oculomotor apraxia 2 OMIM:606002 OMIM MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym SCAN2 OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAN2 OMIM:606002 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Noonan syndrome OMIM:163950 OMIM MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Noonan syndrome OMIMPS:163950 OMIM -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCA OMIM:204000 OMIM MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis OMIMPS:204000 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Leber congenital amaurosis OMIMPS:204000 OMIM MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis OMIMPS:256100 Nephronophthisis confirmed nephronophthisis OMIMPS:256100 OMIM MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic confirmed cholestasis, benign recurrent intrahepatic OMIMPS:243300 OMIM -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 confirmed Carpenter syndrome OMIM:201000 OMIM -MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 confirmed acrocephalopolysyndactyly type 2 OMIM:201000 OMIM MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome confirmed Carpenter syndrome OMIMPS:201000 OMIM MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym mastocytosis, cutaneous OMIM:154800 mastocytosis, cutaneous confirmed mastocytosis, cutaneous OMIM:154800 OMIM -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome steele-richardson-olszewski syndrome OMIM:601104 supranuclear palsy, progressive, 1 confirmed Steele-Richardson-Olszewski syndrome OMIM:601104 OMIM MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome confirmed hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 OMIM -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym 3C syndrome 3C syndrome 3c syndrome OMIM:220210 ritscher-schinzel syndrome 1 confirmed 3C syndrome OMIM:220210 OMIM -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 confirmed Craniocerebellocardiac dysplasia OMIM:220210 OMIM -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 confirmed craniocerebellocardiac dysplasia OMIM:220210 OMIM MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome confirmed Ritscher-Schinzel syndrome OMIMPS:220210 OMIM MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LAL deficiency, partial LAL deficiency, partial lal deficiency, partial OMIM:278000 cholesteryl ester storage disease confirmed LAL deficiency, partial OMIM:278000 OMIM MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym LIPA deficiency, partial LIPA deficiency, partial lipa deficiency, partial OMIM:278000 cholesteryl ester storage disease confirmed LIPA deficiency, partial OMIM:278000 OMIM @@ -75098,56 +72838,32 @@ MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym lysosomal a MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym androgen insensitivity syndrome OMIM:300068 androgen insensitivity syndrome confirmed androgen insensitivity syndrome OMIM:300068 OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym testicular feminization syndrome OMIM:300068 androgen insensitivity syndrome confirmed testicular feminization syndrome OMIM:300068 OMIM MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym pseudohypoaldosteronism, type I pseudohypoaldosteronism, type I Pseudohypoaldosteronism, type I OMIMPS:177735 Pseudohypoaldosteronism, type I confirmed pseudohypoaldosteronism, type I OMIMPS:177735 OMIM -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym Gordon hyperkalemia-hypertension syndrome Gordon hyperkalemia-hypertension syndrome gordon hyperkalemia-hypertension syndrome OMIM:145260 pseudohypoaldosteronism, type 2a confirmed Gordon hyperkalemia-hypertension syndrome OMIM:145260 OMIM -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym familial hyperkalemic hypertension OMIM:614495 pseudohypoaldosteronism, type 2d confirmed familial hyperkalemic hypertension OMIM:614495 OMIM MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym pseudohypoaldosteronism, type II pseudohypoaldosteronism, type II Pseudohypoaldosteronism, type II OMIMPS:145260 Pseudohypoaldosteronism, type II confirmed pseudohypoaldosteronism, type II OMIMPS:145260 OMIM -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019165 central precocious puberty oio:hasExactSynonym precocious puberty, central precocious puberty, central Precocious puberty, central OMIMPS:176400 Precocious puberty, central confirmed precocious puberty, central OMIMPS:176400 OMIM -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency confirmed Pyruvate Dehydrogenase Complex Deficiency OMIM:312170 OMIM -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency confirmed pyruvate decarboxylase deficiency OMIM:312170 OMIM -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency confirmed pyruvate dehydrogenase complex deficiency OMIM:312170 OMIM MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency confirmed Pyruvate Dehydrogenase Complex Deficiency OMIMPS:312170 OMIM MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency confirmed pyruvate dehydrogenase complex deficiency OMIMPS:312170 OMIM -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Romano-Ward syndrome Romano-Ward syndrome romano-ward syndrome OMIM:192500 long qt syndrome 1 confirmed Romano-Ward syndrome OMIM:192500 OMIM -MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Ward-Romano syndrome Ward-Romano syndrome ward-romano syndrome OMIM:192500 long qt syndrome 1 confirmed Ward-Romano syndrome OMIM:192500 OMIM MONDO:0019171 familial long QT syndrome oio:hasExactSynonym Long QT Syndrome Long QT Syndrome Long QT syndrome OMIMPS:192500 Long QT syndrome confirmed Long QT Syndrome OMIMPS:192500 OMIM -MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym HHT HHT hht OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHT OMIM:187300 OMIM MONDO:0019180 hereditary hemorrhagic telangiectasia oio:hasExactSynonym telangiectasia, hereditary hemorrhagic OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) confirmed telangiectasia, hereditary hemorrhagic OMIMPS:187300 OMIM -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Broad thumb-hallux syndrome Broad thumb-hallux syndrome broad thumb-hallux syndrome OMIM:180849 rubinstein-taybi syndrome 1 confirmed Broad thumb-hallux syndrome OMIM:180849 OMIM -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein syndrome Rubinstein syndrome rubinstein syndrome OMIM:180849 rubinstein-taybi syndrome 1 confirmed Rubinstein syndrome OMIM:180849 OMIM MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome OMIMPS:180849 Rubinstein-Taybi syndrome confirmed Rubinstein-Taybi Syndrome OMIMPS:180849 OMIM MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed retinitis pigmentosa OMIM:268000 OMIM MONDO:0019200 retinitis pigmentosa oio:hasExactSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed retinitis pigmentosa OMIMPS:268000 OMIM -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder OMIM:601539 peroxisome biogenesis disorder 1b http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisome biogenesis disorder OMIM:601539 OMIM MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym peroxisome biogenesis disorder peroxisome biogenesis disorder Peroxisome biogenesis disorder OMIMPS:214100 Peroxisome biogenesis disorder http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisome biogenesis disorder OMIMPS:214100 OMIM MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses confirmed Mucopolysaccharidoses OMIMPS:607014 OMIM MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym mucopolysaccharidoses mucopolysaccharidoses Mucopolysaccharidoses OMIMPS:607014 Mucopolysaccharidoses confirmed mucopolysaccharidoses OMIMPS:607014 OMIM MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym nail disorder, nonsyndromic congenital nail disorder, nonsyndromic congenital Nail disorder, nonsyndromic congenital OMIMPS:161050 Nail disorder, nonsyndromic congenital confirmed nail disorder, nonsyndromic congenital OMIMPS:161050 OMIM MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) confirmed ectodermal dysplasia OMIMPS:305100 OMIM MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysplasia (select examples) ectodermal dysplasia (select examples) Ectodermal dysplasia (select examples) OMIMPS:305100 Ectodermal dysplasia (select examples) confirmed ectodermal dysplasia (select examples) OMIMPS:305100 OMIM -MONDO:0019342 Seckel syndrome oio:hasExactSynonym Seckel-type Dwarfism Seckel-type Dwarfism seckel-type dwarfism OMIM:210600 seckel syndrome 1 confirmed Seckel-type Dwarfism OMIM:210600 OMIM -MONDO:0019342 Seckel syndrome oio:hasExactSynonym bird-headed dwarfism OMIM:210600 seckel syndrome 1 confirmed bird-headed dwarfism OMIM:210600 OMIM -MONDO:0019342 Seckel syndrome oio:hasExactSynonym nanocephalic Dwarfism nanocephalic Dwarfism nanocephalic dwarfism OMIM:210600 seckel syndrome 1 confirmed nanocephalic Dwarfism OMIM:210600 OMIM -MONDO:0019342 Seckel syndrome oio:hasExactSynonym SCKL SCKL sckl OMIM:210600 seckel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCKL OMIM:210600 OMIM -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym deciduous skin OMIM:270300 peeling skin syndrome 1 confirmed deciduous skin OMIM:270300 OMIM -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSS OMIM:270300 OMIM -MONDO:0019347 peeling skin syndrome oio:hasExactSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PSS OMIM:601224 OMIM MONDO:0019349 Sotos syndrome oio:hasExactSynonym cerebral gigantism OMIM:117550 sotos syndrome confirmed cerebral gigantism OMIM:117550 OMIM MONDO:0019349 Sotos syndrome oio:hasExactSynonym chromosome 5q35 deletion syndrome OMIM:117550 sotos syndrome confirmed chromosome 5q35 deletion syndrome OMIM:117550 OMIM MONDO:0019349 Sotos syndrome oio:hasExactSynonym Sotos syndrome Sotos syndrome sotos syndrome OMIM:117550 sotos syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Sotos syndrome OMIM:117550 OMIM MONDO:0019354 Stickler syndrome oio:hasExactSynonym Stickler syndrome OMIMPS:108300 Stickler syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Stickler syndrome OMIMPS:108300 OMIM -MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia Fanconi anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fanconi anemia OMIM:227650 OMIM MONDO:0019391 Fanconi anemia oio:hasExactSynonym Fanconi anemia OMIMPS:227650 Fanconi anemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fanconi anemia OMIMPS:227650 OMIM -MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym CDA OMIM:607541 corneal dystrophy, avellino type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDA OMIM:607541 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym anemia, congenital dyserythropoietic anemia, congenital dyserythropoietic Anemia, congenital dyserythropoietic OMIMPS:224120 Anemia, congenital dyserythropoietic confirmed anemia, congenital dyserythropoietic OMIMPS:224120 OMIM MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym Saul-Wilson syndrome Saul-Wilson syndrome saul-wilson syndrome OMIM:618150 saul-wilson syndrome confirmed Saul-Wilson syndrome OMIM:618150 OMIM MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia OMIM:618150 saul-wilson syndrome confirmed microcephalic osteodysplastic dysplasia OMIM:618150 OMIM MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym SWILS OMIM:618150 saul-wilson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SWILS OMIM:618150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis OMIM:259750 osteoporosis, juvenile confirmed idiopathic juvenile osteoporosis OMIM:259750 OMIM MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym SPTCL OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPTCL OMIM:618398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 confirmed anterior segment mesenchymal dysgenesis OMIM:107250 OMIM -MONDO:0019503 anterior segment dysgenesis oio:hasExactSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 confirmed anterior segment ocular dysgenesis OMIM:107250 OMIM -MONDO:0019516 exudative vitreoretinopathy oio:hasExactSynonym Criswick-Schepens syndrome Criswick-Schepens syndrome criswick-schepens syndrome OMIM:133780 exudative vitreoretinopathy 1 confirmed Criswick-Schepens syndrome OMIM:133780 OMIM MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, classic type, 1 ehlers-danlos syndrome, classic type, 1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Ehlers-Danlos syndrome, classic type, 1 OMIM:130000 OMIM MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 oio:hasExactSynonym EDSCL1 OMIM:130000 ehlers-danlos syndrome, classic type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EDSCL1 OMIM:130000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 2 ehlers-danlos syndrome, classic type, 2 OMIM:130010 ehlers-danlos syndrome, classic type, 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Ehlers-Danlos syndrome, classic type, 2 OMIM:130010 OMIM @@ -75155,25 +72871,17 @@ MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym EDSCL MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome A Cockayne syndrome A Cockayne syndrome a OMIM:216400 Cockayne syndrome a confirmed Cockayne syndrome A OMIM:216400 OMIM MONDO:0019570 Cockayne syndrome type 2 oio:hasExactSynonym Cockayne syndrome B OMIM:133540 Cockayne syndrome B confirmed Cockayne syndrome B OMIM:133540 OMIM MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, Pakistani type spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes confirmed spondyloepimetaphyseal dysplasia, Pakistani type OMIM:612847 OMIM -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym SEMDJL SEMDJL semdjl OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SEMDJL OMIM:271640 OMIM MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity confirmed spondyloepimetaphyseal dysplasia with joint laxity OMIMPS:271640 OMIM MONDO:0019719 congenital anomaly of kidney and urinary tract oio:hasExactSynonym congenital anomalies of kidney and urinary tract congenital anomalies of kidney and urinary tract Congenital anomalies of kidney and urinary tract OMIMPS:610805 Congenital anomalies of kidney and urinary tract confirmed congenital anomalies of kidney and urinary tract OMIMPS:610805 OMIM MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym rippling muscle disease 2 OMIM:606072 rippling muscle disease 2 confirmed rippling muscle disease 2 OMIM:606072 OMIM MONDO:0019947 rippling muscle disease 2 oio:hasExactSynonym RMD2 OMIM:606072 rippling muscle disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RMD2 OMIM:606072 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0019978 Robinow syndrome oio:hasExactSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 confirmed Robinow dwarfism OMIM:180700 OMIM -MONDO:0019978 Robinow syndrome oio:hasExactSynonym acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 confirmed acral dysostosis with facial and genital abnormalities OMIM:180700 OMIM -MONDO:0019978 Robinow syndrome oio:hasExactSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 confirmed fetal face syndrome OMIM:180700 OMIM -MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg confirmed progressive myoclonic epilepsy OMIM:254800 OMIM MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym epilepsy, progressive myoclonic epilepsy, progressive myoclonic Epilepsy, progressive myoclonic OMIMPS:254800 Epilepsy, progressive myoclonic confirmed epilepsy, progressive myoclonic OMIMPS:254800 OMIM MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym lipodystrophy, familial partial lipodystrophy, familial partial Lipodystrophy, familial partial OMIMPS:151660 Lipodystrophy, familial partial confirmed lipodystrophy, familial partial OMIMPS:151660 OMIM MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontocerebellar hypoplasia pontocerebellar hypoplasia Pontocerebellar hypoplasia OMIMPS:607596 Pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pontocerebellar hypoplasia OMIMPS:607596 OMIM -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect atrioventricular septal defect OMIM:606215 atrioventricular septal defect confirmed Atrioventricular Septal Defect OMIM:606215 OMIM MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect confirmed Atrioventricular Septal Defect OMIMPS:606215 OMIM -MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 confirmed epilepsy, familial focal, with variable foci OMIM:604364 OMIM MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci confirmed epilepsy, familial focal, with variable foci OMIMPS:604364 OMIM MONDO:0020341 periventricular nodular heterotopia oio:hasExactSynonym periventricular nodular heterotopia periventricular nodular heterotopia Periventricular nodular heterotopia OMIMPS:300049 Periventricular nodular heterotopia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed periventricular nodular heterotopia OMIMPS:300049 OMIM MONDO:0020364 posterior polymorphous corneal dystrophy oio:hasExactSynonym corneal dystrophy, posterior polymorphous corneal dystrophy, posterior polymorphous Corneal dystrophy, posterior polymorphous OMIMPS:122000 Corneal dystrophy, posterior polymorphous confirmed corneal dystrophy, posterior polymorphous OMIMPS:122000 OMIM -MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium OMIM:169150 macular dystrophy, patterned, 1 confirmed patterned dystrophy of retinal pigment epithelium OMIM:169150 OMIM MONDO:0020381 patterned macular dystrophy oio:hasExactSynonym macular dystrophy, patterned macular dystrophy, patterned Macular dystrophy, patterned OMIMPS:169150 Macular dystrophy, patterned confirmed macular dystrophy, patterned OMIMPS:169150 OMIM MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction oio:hasExactSynonym adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 confirmed adenosine deaminase, elevated, hemolytic anemia due to OMIM:301083 OMIM MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym peho-like syndrome OMIM:617507 peho-like syndrome confirmed peho-like syndrome OMIM:617507 OMIM @@ -75319,7 +73027,6 @@ MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 o MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 confirmed hemochromatosis OMIM:235200 OMIM MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis, type 1 OMIM:235200 hemochromatosis, type 1 confirmed hemochromatosis, type 1 OMIM:235200 OMIM MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym HFE1 OMIM:235200 hemochromatosis, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HFE1 OMIM:235200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0021001 hemochromatosis type 1 oio:hasExactSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis confirmed hemochromatosis OMIMPS:235200 OMIM MONDO:0021003 polydactyly oio:hasExactSynonym polydactyly OMIM:603596 polydactyly confirmed polydactyly OMIM:603596 OMIM MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym chorea, benign hereditary OMIM:118700 chorea, benign hereditary confirmed chorea, benign hereditary OMIM:118700 OMIM MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym hereditary progressive chorea without dementia OMIM:118700 chorea, benign hereditary confirmed hereditary progressive chorea without dementia OMIM:118700 OMIM @@ -75336,13 +73043,10 @@ MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym Crigler-Najjar MONDO:0021020 Crigler-Najjar syndrome type 1 oio:hasExactSynonym hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, Crigler-Najjar type 1 hyperbilirubinemia, crigler-najjar type 1 OMIM:218800 crigler-najjar syndrome, type 1 confirmed hyperbilirubinemia, Crigler-Najjar type 1 OMIM:218800 OMIM MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant confirmed craniodiaphyseal dysplasia, autosomal dominant OMIM:122860 OMIM MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant oio:hasExactSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym Kok disease Kok disease kok disease OMIM:149400 hyperekplexia 1 confirmed Kok disease OMIM:149400 OMIM MONDO:0021024 malaria, susceptibility to oio:hasExactSynonym malaria, susceptibility to OMIM:611162 malaria, susceptibility to confirmed malaria, susceptibility to OMIM:611162 OMIM MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-intellectual disability syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 confirmed alopecia-intellectual disability syndrome 1 OMIM:203650 OMIM MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym alopecia-mental retardation syndrome 1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed alopecia-mental retardation syndrome 1 OMIM:203650 OMIM MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym APMR1 OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed APMR1 OMIM:203650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 confirmed adenomatous polyposis of the colon OMIM:175100 OMIM MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis Familial Adenomatous Polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis confirmed Familial Adenomatous Polyposis OMIMPS:175100 OMIM MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis familial adenomatous polyposis Familial adenomatous polyposis OMIMPS:175100 Familial adenomatous polyposis confirmed familial adenomatous polyposis OMIMPS:175100 OMIM MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym familial adenomatous polyposis 1 OMIM:175100 familial adenomatous polyposis 1 confirmed familial adenomatous polyposis 1 OMIM:175100 OMIM @@ -75395,7 +73099,6 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2G6-associated neurodegeneration, Pla2G6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a confirmed neurodegeneration, Pla2G6-associated OMIM:256600 OMIM MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym neurodegeneration, Pla2g6-associated neurodegeneration, Pla2g6-associated neurodegeneration, pla2g6-associated OMIM:256600 neurodegeneration with brain iron accumulation 2a confirmed neurodegeneration, Pla2g6-associated OMIM:256600 OMIM MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym NBIA2A OMIM:256600 neurodegeneration with brain iron accumulation 2a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBIA2A OMIM:256600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 confirmed melanoma, cutaneous malignant OMIM:155600 OMIM MONDO:0024462 susceptibility to familial cutaneous melanoma oio:hasExactSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant confirmed melanoma, cutaneous malignant OMIMPS:155600 OMIM MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ovarian dysgenesis 1 OMIM:233300 ovarian dysgenesis 1 confirmed ovarian dysgenesis 1 OMIM:233300 OMIM MONDO:0024463 ovarian dysgenesis 1 oio:hasExactSynonym ODG1 OMIM:233300 ovarian dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ODG1 OMIM:233300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -75497,7 +73200,6 @@ MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSy MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked oio:hasExactSynonym IMD98 OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMD98 OMIM:301078 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym immunodeficiency 102 OMIM:301082 immunodeficiency 102 confirmed immunodeficiency 102 OMIM:301082 OMIM MONDO:0024781 immunodeficiency 102 oio:hasExactSynonym IMD102 OMIM:301082 immunodeficiency 102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMD102 OMIM:301082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 confirmed oculopharyngodistal myopathy OMIM:164310 OMIM MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy confirmed oculopharyngodistal myopathy OMIMPS:164310 OMIM MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym Linked syndrome Linked syndrome linked syndrome OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked confirmed Linked syndrome OMIM:301056 OMIM MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked oio:hasExactSynonym MCAND OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCAND OMIM:301056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -75775,7 +73477,6 @@ MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym spermatogenic failur MONDO:0030307 spermatogenic failure 55 oio:hasExactSynonym SPGF55 OMIM:619380 spermatogenic failure 55 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPGF55 OMIM:619380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym immunodeficiency 82 with systemic inflammation OMIM:619381 immunodeficiency 82 with systemic inflammation confirmed immunodeficiency 82 with systemic inflammation OMIM:619381 OMIM MONDO:0030308 immunodeficiency 82 with systemic inflammation oio:hasExactSynonym IMD82 OMIM:619381 immunodeficiency 82 with systemic inflammation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMD82 OMIM:619381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym LHONAR LHONAR lhonar OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LHONAR OMIM:619382 OMIM MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive oio:hasExactSynonym Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive confirmed Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 OMIM MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym combined oxidative phosphorylation deficiency 52 OMIM:619386 combined oxidative phosphorylation deficiency 52 confirmed combined oxidative phosphorylation deficiency 52 OMIM:619386 OMIM MONDO:0030311 combined oxidative phosphorylation deficiency 52 oio:hasExactSynonym COXPD52 OMIM:619386 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD52 OMIM:619386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -76848,7 +74549,6 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym long QT syndrome 1 long QT MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 OMIM:192500 long qt syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LQT1 OMIM:192500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym Goldblatt syndrome Goldblatt syndrome goldblatt syndrome OMIM:184260 odontochondrodysplasia 1 confirmed Goldblatt syndrome OMIM:184260 OMIM MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym ODCD ODCD odcd OMIM:184260 odontochondrodysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ODCD OMIM:184260 OMIM -MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Glanzmann thrombasthenia OMIM:273800 OMIM MONDO:0100326 Glanzmann thrombasthenia oio:hasExactSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Glanzmann thrombasthenia OMIMPS:273800 OMIM MONDO:0100327 hypercholanemia, familial oio:hasExactSynonym hypercholanemia, familial hypercholanemia, familial Hypercholanemia, familial OMIMPS:607748 Hypercholanemia, familial confirmed hypercholanemia, familial OMIMPS:607748 OMIM MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym Friedreich ataxia 1 Friedreich ataxia 1 friedreich ataxia 1 OMIM:229300 friedreich ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Friedreich ataxia 1 OMIM:229300 OMIM @@ -76952,7 +74652,6 @@ MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym Carey-Fineman- MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy, congenital nonprogressive, with moebius sequence and robin sequence OMIM:254940 carey-fineman-ziter syndrome 1 confirmed myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence OMIM:254940 OMIM MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym CFZS1 OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CFZS1 OMIM:254940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym DEDSSH1 OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DEDSSH1 OMIM:616901 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0800444 Birt-Hogg-Dube syndrome oio:hasExactSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BHD OMIM:135150 OMIM MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym Hornstein-Knickenberg syndrome Hornstein-Knickenberg syndrome hornstein-knickenberg syndrome OMIM:135150 birt-hogg-dube syndrome 1 confirmed Hornstein-Knickenberg syndrome OMIM:135150 OMIM MONDO:0800445 Birt-Hogg-Dube syndrome 1 oio:hasExactSynonym fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 birt-hogg-dube syndrome 1 confirmed fibrofolliculomas with trichodiscomas and acrochordons OMIM:135150 OMIM MONDO:0800447 bleeding disorder, platelet-type, 13, susceptibility to oio:hasExactSynonym bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to confirmed bleeding disorder, platelet-type, 13, susceptibility to OMIM:614009 OMIM @@ -76969,7 +74668,6 @@ MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 oio:has MONDO:0957820 congenital disorder of glycosylation, type IIbb oio:hasExactSynonym CDG IIbb CDG IIbb cdg iibb OMIM:620546 congenital disorder of glycosylation, type iibb confirmed CDG IIbb OMIM:620546 OMIM MONDO:0958237 isolated hyperferritinemia oio:hasExactSynonym hyperferritinemia OMIM:620729 hyperferritinemia confirmed hyperferritinemia OMIM:620729 OMIM MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIMS WHIMS whims OMIM:193670 whim syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WHIMS OMIM:193670 OMIM -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym WHIM Syndrome WHIM Syndrome WHIM syndrome OMIMPS:193670 WHIM syndrome confirmed WHIM Syndrome OMIMPS:193670 OMIM MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym cataract-mental retardation-hypogonadism OMIM:212720 martsolf syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed cataract-mental retardation-hypogonadism OMIM:212720 OMIM MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym IMNEPD IMNEPD imnepd OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMNEPD OMIM:616263 OMIM MONDO:8000014 familial antiphospholipid syndrome oio:hasExactSynonym antiphospholipid syndrome, familial OMIM:107320 antiphospholipid syndrome, familial confirmed antiphospholipid syndrome, familial OMIM:107320 OMIM @@ -76979,14 +74677,7 @@ MONDO:8000018 benign paroxysmal positional vertigo oio:hasExactSynonym vertigo, MONDO:8000018 benign paroxysmal positional vertigo oio:hasExactSynonym vertigo, benign recurrent OMIM:193007 vertigo, benign recurrent confirmed vertigo, benign recurrent OMIM:193007 OMIM MONDO:8000018 benign paroxysmal positional vertigo oio:hasExactSynonym vestibulopathy, familial OMIM:193007 vertigo, benign recurrent confirmed vestibulopathy, familial OMIM:193007 OMIM MONDO:8000018 benign paroxysmal positional vertigo oio:hasExactSynonym BRV OMIM:193007 vertigo, benign recurrent http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BRV OMIM:193007 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB1 OMIM:300345 microphthalmia/coloboma 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300345 updated MCOPCB1 OMIM:300345 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome 1 zimmermann-laband syndrome 1 OMIM:135500 zimmermann-laband syndrome 1 MONDO:Lexical, OMIM:135500 updated Zimmermann-Laband syndrome 1 OMIM:135500 OMIM -MONDO:0000200 Zimmermann-Laband syndrome oio:hasExactSynonym oio:hasRelatedSynonym ZLS1 OMIM:135500 zimmermann-laband syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135500 updated ZLS1 OMIM:135500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym MSSGM MSSGM mssgm OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616033, MONDO:Lexical updated MSSGM OMIM:616033 OMIM -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, short stature, and impaired glucose metabolism microcephaly, short stature, and impaired glucose metabolism Microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism OMIM:616033, MONDO:Lexical updated microcephaly, short stature, and impaired glucose metabolism OMIMPS:616033 OMIM -MONDO:0000355 Ullrich congenital muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/ updated Ullrich disease OMIM:254090 OMIM -MONDO:0000359 spondylocostal dysostosis oio:hasExactSynonym oio:hasRelatedSynonym Jarcho-Levin syndrome Jarcho-Levin syndrome jarcho-levin syndrome OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, DOID:0050568 updated Jarcho-Levin syndrome OMIM:277300 OMIM -MONDO:0000463 Ochoa syndrome oio:hasExactSynonym oio:hasRelatedSynonym inverted smile and occult neuropathic bladder OMIM:236730 urofacial syndrome 1 GARD:0000104 updated inverted smile and occult neuropathic bladder OMIM:236730 OMIM MONDO:0000723 stutter disorder oio:hasExactSynonym oio:hasNarrowSynonym stuttering, familial persistent stuttering, familial persistent Stuttering, familial persistent OMIMPS:184450 Stuttering, familial persistent OMIMPS:184450 updated stuttering, familial persistent OMIMPS:184450 OMIM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with neuronopathy OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 updated corpus callosum, agenesis of, with neuronopathy OMIM:218000 OMIM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy oio:hasExactSynonym oio:hasRelatedSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy OMIM:218000 updated polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum OMIM:218000 OMIM @@ -76997,48 +74688,29 @@ MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynony MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym neurosensory nonsyndromic recessive deafness 5 OMIM:600792 deafness, autosomal recessive 5 OMIM:600792 updated neurosensory nonsyndromic recessive deafness 5 OMIM:600792 OMIM MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 oio:hasExactSynonym oio:hasNarrowSynonym DFNB5 OMIM:600792 deafness, autosomal recessive 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792 updated DFNB5 OMIM:600792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0000913 hereditary spherocytosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym spherocytosis, hereditary, 2 OMIM:616649 spherocytosis, type 2 OMIM:616649 updated spherocytosis, hereditary, 2 OMIM:616649 OMIM -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy GARD:0001049 updated cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 OMIM -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 1 OMIM:608520 major depressive disorder 1 OMIM:608516, OMIM:genemap2 updated major depressive disorder 1 OMIM:608520 OMIM -MONDO:0002009 major depressive disorder oio:hasExactSynonym oio:hasBroadSynonym major depressive disorder 2 OMIM:608691 major depressive disorder 2 OMIM:608516, OMIM:genemap2 updated major depressive disorder 2 OMIM:608691 OMIM -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome GARD:0002317, DOID:14711 updated Opitz-Kaveggia syndrome OMIM:305450 OMIM -MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0002317 updated mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 OMIM MONDO:0002408 hereditary hyperbilirubinemia oio:hasExactSynonym oio:hasBroadSynonym hyperbilirubinemia hyperbilirubinemia Hyperbilirubinemia OMIMPS:237450 Hyperbilirubinemia DOID:2741 updated hyperbilirubinemia OMIMPS:237450 OMIM -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 updated Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 OMIM -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome 1 jervell and lange-nielsen syndrome 1 OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400, MONDO:Lexical updated Jervell and Lange-Nielsen syndrome 1 OMIM:220400 OMIM -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym Surdo-cardiac syndrome Surdo-cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 updated Surdo-cardiac syndrome OMIM:220400 OMIM -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 GARD:0003048 updated deafness, congenital, and functional heart disease OMIM:220400 OMIM -MONDO:0002441 Jervell and Lange-Nielsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400, GARD:0003048 updated JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym gonadoblastoma OMIM:424500 gonadoblastoma OMIM:424500 updated gonadoblastoma OMIM:424500 OMIM MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym oio:hasBroadSynonym GBY OMIM:424500 gonadoblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:424500 updated GBY OMIM:424500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0003233 essential tremor oio:hasExactSynonym oio:hasNarrowSynonym tremor, hereditary essential tremor, hereditary essential Tremor, hereditary essential OMIMPS:190300 Tremor, hereditary essential OMIMPS:190300 updated tremor, hereditary essential OMIMPS:190300 OMIM -MONDO:0003321 hereditary Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym WT1 OMIM:194070 wilms tumor 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:5183 updated WT1 OMIM:194070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic LYMPHOCYTIC leukemia, chronic LYMPHOCYTIC leukemia, chronic lymphocytic OMIM:151400 leukemia, chronic lymphocytic MONDO:Lexical, OMIM:151400 updated leukemia, chronic LYMPHOCYTIC OMIM:151400 OMIM MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, chronic lymphatic OMIM:151400 leukemia, chronic lymphocytic OMIM:151400 updated leukemia, chronic lymphatic OMIM:151400 OMIM MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym HIV-1, susceptibility to HIV-1, susceptibility to hiv-1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 updated HIV-1, susceptibility to OMIM:609423 OMIM MONDO:0004951 susceptibility to HIV infection oio:hasExactSynonym oio:hasRelatedSynonym human immunodeficiency virus type 1, susceptibility to OMIM:609423 human immunodeficiency virus type 1, susceptibility to OMIM:609423 updated human immunodeficiency virus type 1, susceptibility to OMIM:609423 OMIM -MONDO:0005081 preeclampsia oio:hasExactSynonym oio:hasRelatedSynonym toxemia of pregnancy OMIM:189800 preeclampsia/eclampsia 1 DOID:10591 updated toxemia of pregnancy OMIM:189800 OMIM MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia with or without an affective disorder OMIM:181500 schizophrenia OMIM:181500 updated schizophrenia with or without an affective disorder OMIM:181500 OMIM MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym SCZD OMIM:181500 schizophrenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:181500, MONDO:Lexical updated SCZD OMIM:181500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasBroadSynonym schizophrenia 12 OMIM:608543 schizophrenia 12 OMIM:genemap2, OMIM:181500 updated schizophrenia 12 OMIM:608543 OMIM MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes OMIM:125853 type 2 diabetes mellitus OMIM:125853 updated maturity-onset diabetes OMIM:125853 OMIM -MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym oio:hasNarrowSynonym diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 type 2 diabetes mellitus 2 OMIM:genemap2, OMIM:125853 updated diabetes mellitus, noninsulin-dependent, 2 OMIM:601407 OMIM MONDO:0005260 autism oio:hasExactSynonym oio:hasRelatedSynonym autistic disorder OMIM:209850 autism OMIM:209850 updated autistic disorder OMIM:209850 OMIM MONDO:0005298 osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, involutional OMIM:166710 osteoporosis OMIM:166710 updated osteoporosis, involutional OMIM:166710 OMIM MONDO:0005388 primary biliary cholangitis oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary biliary cirrhosis, primary Biliary cirrhosis, primary OMIMPS:109720 Biliary cirrhosis, primary OMIMPS:109720 updated biliary cirrhosis, primary OMIMPS:109720 OMIM MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym oio:hasRelatedSynonym kala-azar, susceptibility to kala-azar, susceptibility to Kala-azar, susceptibility to OMIMPS:608207 Kala-azar, susceptibility to OMIMPS:608207 updated kala-azar, susceptibility to OMIMPS:608207 OMIM MONDO:0005486 tooth agenesis oio:hasExactSynonym oio:hasRelatedSynonym tooth agenesis, selective tooth agenesis, selective Tooth agenesis, selective OMIMPS:106600 Tooth agenesis, selective OMIMPS:106600 updated tooth agenesis, selective OMIMPS:106600 OMIM -MONDO:0005508 hereditary multiple osteochondromas oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION updated EXT OMIM:133700 OMIM MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym colon cancer OMIM:114500 colorectal cancer OMIM:114500 updated colon cancer OMIM:114500 OMIM MONDO:0005575 colorectal cancer oio:hasExactSynonym oio:hasRelatedSynonym CRC OMIM:114500 colorectal cancer http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:114500, MONDO:Lexical updated CRC OMIM:114500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0005711 congenital diaphragmatic hernia oio:hasExactSynonym oio:hasBroadSynonym diaphragmatic hernia diaphragmatic hernia Diaphragmatic hernia OMIMPS:142340 Diaphragmatic hernia DOID:3827, NCIT:C34687 updated diaphragmatic hernia OMIMPS:142340 OMIM -MONDO:0005803 hyperinsulinemic hypoglycemia oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 DOID:13317 updated nesidioblastosis OMIM:601820 OMIM MONDO:0006248 hydatidiform mole oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole, recurrent hydatidiform mole, recurrent Hydatidiform mole, recurrent OMIMPS:231090 Hydatidiform mole, recurrent OMIMPS:231090 updated hydatidiform mole, recurrent OMIMPS:231090 OMIM MONDO:0006292 malignant mesothelioma oio:hasExactSynonym oio:hasRelatedSynonym MESOM OMIM:156240 mesothelioma, malignant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:156240 updated MESOM OMIM:156240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis OMIM:235200 hemochromatosis, type 1 DOID:2352 updated hemochromatosis OMIM:235200 OMIM MONDO:0006507 hereditary hemochromatosis oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis hemochromatosis Hemochromatosis OMIMPS:235200 Hemochromatosis DOID:2352 updated hemochromatosis OMIMPS:235200 OMIM MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog syndrome, autosomal dominant Aarskog syndrome, autosomal dominant aarskog syndrome, autosomal dominant OMIM:100050 aarskog syndrome, autosomal dominant OMIM:100050 updated Aarskog syndrome, autosomal dominant OMIM:100050 OMIM -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome DOID:6683 updated Aarskog-Scott syndrome OMIM:305400 OMIM -MONDO:0007030 autosomal dominant Aarskog syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome DOID:6683 updated faciogenital dysplasia OMIM:305400 OMIM MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism OMIM:100100 prune belly syndrome OMIM:100100 updated abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism OMIM:100100 OMIM MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eagle-Barrett syndrome eagle-Barrett syndrome eagle-barrett syndrome OMIM:100100 prune belly syndrome OMIM:100100 updated eagle-Barrett syndrome OMIM:100100 OMIM MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym PBS OMIM:100100 prune belly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100100, MONDO:Lexical updated PBS OMIM:100100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -77138,7 +74810,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebra MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis 8 OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 updated amyloidosis 8 OMIM:105200 OMIM MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial visceral OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 updated amyloidosis, familial visceral OMIM:105200 OMIM MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, systemic Nonneuropathic amyloidosis, systemic Nonneuropathic amyloidosis, systemic nonneuropathic OMIM:105200 amyloidosis, hereditary systemic 2 OMIM:105200 updated amyloidosis, systemic Nonneuropathic OMIM:105200 OMIM -MONDO:0007100 familial amyloid neuropathy oio:hasExactSynonym oio:hasRelatedSynonym hereditary amyloidosis, transthyretin-related OMIM:105210 amyloidosis, hereditary systemic 1 OMIM:105210 updated hereditary amyloidosis, transthyretin-related OMIM:105210 OMIM MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400 updated amyotrophic lateral sclerosis 1, autosomal dominant OMIM:105400 OMIM MONDO:0007103 amyotrophic lateral sclerosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 1, familial OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400, MESH:C531617 updated amyotrophic lateral sclerosis 1, familial OMIM:105400 OMIM MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym ALS-pDC ALS-pDC als-pdc OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 updated ALS-pDC OMIM:105500 OMIM @@ -77146,7 +74817,6 @@ MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:ha MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 OMIM:105500 updated amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam OMIM:105500 OMIM MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550 updated frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 OMIM MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym FTDALS1 OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105550, MONDO:Lexical updated FTDALS1 OMIM:105550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis OMIM:105550 updated frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105550 OMIM MONDO:0007106 anal sphincter dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ASDP OMIM:105563 anal sphincter dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:105563 updated ASDP OMIM:105563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007107 anal sphincter myopathy, internal oio:hasExactSynonym oio:hasRelatedSynonym proctalgia fugax due to anal sphincter myopathy OMIM:105565 anal sphincter myopathy, internal OMIM:105565 updated proctalgia fugax due to anal sphincter myopathy OMIM:105565 OMIM MONDO:0007109 congenital dyserythropoietic anemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym Erythroreticulosis, hereditary benign Erythroreticulosis, hereditary benign erythroreticulosis, hereditary benign OMIM:105600 anemia, congenital dyserythropoietic, type iiia OMIM:105600 updated Erythroreticulosis, hereditary benign OMIM:105600 OMIM @@ -77161,7 +74831,6 @@ MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrogenesis imperfecta OMIM:105650 diamond-blackfan anemia 1 OMIM:105650 updated erythrogenesis imperfecta OMIM:105650 OMIM MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasBroadSynonym DBA DBA dba OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650 updated DBA OMIM:105650 OMIM MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBA1 OMIM:105650 diamond-blackfan anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105650, MONDO:Lexical updated DBA1 OMIM:105650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007110 Diamond-Blackfan anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:105650 updated Aase-Smith syndrome 2 OMIM:612561 OMIM MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysm, intracranial berry, 1 OMIM:105800 aneurysm, intracranial berry, 1 MONDO:Lexical, OMIM:105800 updated aneurysm, intracranial berry, 1 OMIM:105800 OMIM MONDO:0007111 aneurysm, intracranial berry type 1 oio:hasExactSynonym oio:hasRelatedSynonym aneurysmal subarachnoid hemorrhage, familial OMIM:105800 aneurysm, intracranial berry, 1 OMIM:105800 updated aneurysmal subarachnoid hemorrhage, familial OMIM:105800 OMIM MONDO:0007112 interventricular septum aneurysm oio:hasExactSynonym oio:hasRelatedSynonym aneurysm of interventricular septum OMIM:105805 aneurysm of interventricular septum OMIM:105805 updated aneurysm of interventricular septum OMIM:105805 OMIM @@ -77201,17 +74870,11 @@ MONDO:0007137 isolated congenital anosmia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 MONDO:Lexical, OMIM:107250 updated anterior segment mesenchymal dysgenesis OMIM:107250 OMIM MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment ocular dysgenesis OMIM:107250 anterior segment dysgenesis 1 OMIM:107250 updated anterior segment ocular dysgenesis OMIM:107250 OMIM MONDO:0007138 anterior segment dysgenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym ASGD1 OMIM:107250 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107250 updated ASGD1 OMIM:107250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym Townes-Brocks syndrome 1 Townes-Brocks syndrome 1 townes-brocks syndrome 1 OMIM:107480 townes-brocks syndrome 1 OMIM:107480 updated Townes-Brocks syndrome 1 OMIM:107480 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and Ear anomalies anus, imperforate, with hand, foot, and ear anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 updated anus, imperforate, with hand, foot, and Ear anomalies OMIM:107480 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 townes-brocks syndrome 1 OMIM:107480 updated deafness, sensorineural, with imperforate anus and thumb anomalies OMIM:107480 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome renal-ear-anal-radial syndrome OMIM:107480 townes-brocks syndrome 1 OMIM:107480 updated renal-Ear-anal-radial syndrome OMIM:107480 OMIM -MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym TBS1 OMIM:107480 townes-brocks syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:107480 updated TBS1 OMIM:107480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:107500 updated aortic arch anomaly with peculiar facies and mental retardation OMIM:107500 OMIM MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym aplasia cutis congenita, nonsyndromic OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600, MONDO:Lexical updated aplasia cutis congenita, nonsyndromic OMIM:107600 OMIM MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital defect of skull and scalp OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 updated congenital defect of skull and scalp OMIM:107600 OMIM MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym scalp defect, congenital OMIM:107600 aplasia cutis congenita, nonsyndromic OMIM:107600 updated scalp defect, congenital OMIM:107600 OMIM MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 updated ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 updated ACC OMIM:217990 OMIM MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Osa Osa osa OMIM:107650 apnea, obstructive sleep OMIM:107650 updated Osa OMIM:107650 OMIM MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym apnea, obstructive sleep OMIM:107650 apnea, obstructive sleep MESH:D020181, OMIM:107650 updated apnea, obstructive sleep OMIM:107650 OMIM MONDO:0007147 obstructive sleep apnea syndrome oio:hasExactSynonym oio:hasRelatedSynonym sleep apnea/hypopnea syndrome OMIM:107650 apnea, obstructive sleep OMIM:107650 updated sleep apnea/hypopnea syndrome OMIM:107650 OMIM @@ -77221,7 +74884,6 @@ MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:h MONDO:0007154 arteriovenous malformations of the brain oio:hasExactSynonym oio:hasRelatedSynonym cerebral arteriovenous malformations OMIM:108010 arteriovenous malformations of the brain OMIM:108010 updated cerebral arteriovenous malformations OMIM:108010 OMIM MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 updated arthrogryposis multiplex congenita, distal, type 1 OMIM:108120 OMIM MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 1 OMIM:108120 arthrogryposis, distal, type 1a OMIM:108120 updated arthrogryposis, distal, type 1 OMIM:108120 OMIM -MONDO:0007157 arthrogryposis, distal, type 1A oio:hasExactSynonym oio:hasBroadSynonym arthrogryposis multiplex congenita arthrogryposis multiplex congenita Arthrogryposis multiplex congenita OMIMPS:617468 Arthrogryposis multiplex congenita OMIM:108120 updated arthrogryposis multiplex congenita OMIMPS:617468 OMIM MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, GARD:0004047 updated arthrogryposis with oculomotor limitation and electroretinal abnormalities OMIM:108145 OMIM MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 2B arthrogryposis, distal, type 2B arthrogryposis, distal, type 2b OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145 updated arthrogryposis, distal, type 2B OMIM:108145 OMIM MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 5 OMIM:108145 arthrogryposis, distal, type 5 OMIM:108145, MONDO:Lexical updated arthrogryposis, distal, type 5 OMIM:108145 OMIM @@ -77268,7 +74930,6 @@ MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym S MONDO:0007182 Machado-Joseph disease oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 3 OMIM:109150 machado-joseph disease OMIM:109150 updated spinocerebellar atrophy 3 OMIM:109150 OMIM MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym gastroesophageal reflux, pediatric OMIM:109350 gastroesophageal reflux OMIM:109350 updated gastroesophageal reflux, pediatric OMIM:109350 OMIM MONDO:0007186 gastroesophageal reflux disease oio:hasExactSynonym oio:hasRelatedSynonym GER ger GER OMIM:109350 gastroesophageal reflux http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109350, MONDO:Lexical updated GER OMIM:109350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007187 nevoid basal cell carcinoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 basal cell nevus syndrome 1 OMIM:109400 updated multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies OMIM:109400 OMIM MONDO:0007188 primary basilar invagination oio:hasExactSynonym oio:hasRelatedSynonym basilar impression, primary OMIM:109500 basilar impression, primary OMIM:109500 updated basilar impression, primary OMIM:109500 OMIM MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym B-cell malignancy, low-grade B-cell malignancy, low-grade b-cell malignancy, low-grade OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 updated B-cell malignancy, low-grade OMIM:109543 OMIM MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym Clls2 Clls2 clls2 OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 OMIM:109543 updated Clls2 OMIM:109543 OMIM @@ -77278,8 +74939,6 @@ MONDO:0007192 beta-amino acids, renal transport of oio:hasExactSynonym oio:hasRe MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pbc Pbc pbc OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720 updated Pbc OMIM:109720 OMIM MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 1 OMIM:109720 biliary cirrhosis, primary, 1 OMIM:109720, MONDO:Lexical updated biliary cirrhosis, primary, 1 OMIM:109720 OMIM MONDO:0007193 primary biliary cholangitis 1 oio:hasExactSynonym oio:hasRelatedSynonym PBC1 OMIM:109720 biliary cirrhosis, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:109720, MONDO:Lexical updated PBC1 OMIM:109720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym aortic valve disease 1 OMIM:109730 aortic valve disease 1 OMIM:109730, MONDO:Lexical updated aortic valve disease 1 OMIM:109730 OMIM -MONDO:0007194 familial bicuspid aortic valve oio:hasExactSynonym oio:hasNarrowSynonym AOVD1 OMIM:109730 aortic valve disease 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:109730 updated AOVD1 OMIM:109730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis, myopia, and ectopia lentis OMIM:110150 blepharoptosis, myopia, and ectopia lentis OMIM:110150 updated blepharoptosis, myopia, and ectopia lentis OMIM:110150 OMIM MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COLE-CARPENTER syndrome 1 COLE-CARPENTER syndrome 1 cole-carpenter syndrome 1 OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 updated COLE-CARPENTER syndrome 1 OMIM:112240 OMIM MONDO:0007204 Cole-Carpenter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features OMIM:112240 cole-carpenter syndrome 1 OMIM:112240 updated bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features OMIM:112240 OMIM @@ -77334,8 +74993,6 @@ MONDO:0007236 branchiootorenal syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym gigantomastia, juvenile OMIM:113670 hypertrophy of the breast, juvenile OMIM:113670 updated gigantomastia, juvenile OMIM:113670 OMIM MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym hypertrophy of the breast, juvenile OMIM:113670 hypertrophy of the breast, juvenile MONDO:Lexical, OMIM:113670 updated hypertrophy of the breast, juvenile OMIM:113670 OMIM MONDO:0007237 familial juvenile hypertrophy of the breast oio:hasExactSynonym oio:hasRelatedSynonym JHB OMIM:113670 hypertrophy of the breast, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:113670 updated JHB OMIM:113670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma Ichthyosiformis congenita of Brocq bullous erythroderma ichthyosiformis congenita of brocq OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 updated bullous erythroderma Ichthyosiformis congenita of Brocq OMIM:113800 OMIM -MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym bullous ichthyosiform erythroderma OMIM:113800 epidermolytic hyperkeratosis 1 OMIM:113800 updated bullous ichthyosiform erythroderma OMIM:113800 OMIM MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Cardiac conduction defect, progressive Cardiac conduction defect, progressive cardiac conduction defect, progressive OMIM:113900 progressive familial heart block, type 1a OMIM:113900 updated Cardiac conduction defect, progressive OMIM:113900 OMIM MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym Lenegre-Lev disease Lenegre-Lev disease lenegre-lev disease OMIM:113900 progressive familial heart block, type 1a OMIM:113900 updated Lenegre-Lev disease OMIM:113900 OMIM MONDO:0007240 progressive familial heart block, type 1A oio:hasExactSynonym oio:hasRelatedSynonym heart block, progressive familial, type 1 OMIM:113900 progressive familial heart block, type 1a OMIM:113900 updated heart block, progressive familial, type 1 OMIM:113900 OMIM @@ -77362,7 +75019,6 @@ MONDO:0007257 candidiasis, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC syndrome CFC syndrome cfc syndrome OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 updated CFC syndrome OMIM:115150 OMIM MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cfcs Cfcs cfcs OMIM:115150 cardiofaciocutaneous syndrome 1 OMIM:115150 updated Cfcs OMIM:115150 OMIM MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFC1 OMIM:115150 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:115150 updated CFC1 OMIM:115150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007265 cardiofaciocutaneous syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome OMIMPS:115150 Cardiofaciocutaneous syndrome OMIM:genemap2, OMIM:115150 updated cardiofaciocutaneous syndrome OMIMPS:115150 OMIM MONDO:0007266 hypertrophic cardiomyopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 2 OMIM:115195 cardiomyopathy, familial hypertrophic, 2 OMIM:115195, MONDO:Lexical updated cardiomyopathy, familial hypertrophic, 2 OMIM:115195 OMIM MONDO:0007267 hypertrophic cardiomyopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 3 OMIM:115196 cardiomyopathy, familial hypertrophic, 3 OMIM:115196, MONDO:Lexical updated cardiomyopathy, familial hypertrophic, 3 OMIM:115196 OMIM MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, congestive OMIM:115200 cardiomyopathy, dilated, 1a OMIM:115200 updated cardiomyopathy, congestive OMIM:115200 OMIM @@ -77436,7 +75092,6 @@ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oi MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Klippel-FEIL syndrome 1, autosomal dominant Klippel-FEIL syndrome 1, autosomal dominant klippel-feil syndrome 1, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 updated Klippel-FEIL syndrome 1, autosomal dominant OMIM:118100 OMIM MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal dominant OMIM:118100 klippel-feil syndrome 1, autosomal dominant OMIM:118100 updated cervical vertebral fusion, autosomal dominant OMIM:118100 OMIM MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym KFS1 OMIM:118100 klippel-feil syndrome 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118100 updated KFS1 OMIM:118100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym Klippel-Feil Syndrome Klippel-Feil Syndrome Klippel-Feil syndrome OMIMPS:118100 Klippel-Feil syndrome NORD:1336 updated Klippel-Feil Syndrome OMIMPS:118100 OMIM MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 updated Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B OMIM:118200 OMIM MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, demyelinating, type 1B Charcot-Marie-Tooth disease, demyelinating, type 1B charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200, MONDO:Lexical updated Charcot-Marie-Tooth disease, demyelinating, type 1B OMIM:118200 OMIM MONDO:0007307 Charcot-Marie-Tooth disease type 1B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy charcot-marie-tooth disease, slow nerve conduction type, linked to duffy OMIM:118200 charcot-marie-tooth disease, demyelinating, type 1b OMIM:118200 updated Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy OMIM:118200 OMIM @@ -77467,7 +75122,6 @@ MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSyno MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 updated chondrodysplasia punctata, tibia-metacarpal type OMIM:118651 OMIM MONDO:0007325 choreoathetosis, familial inverted oio:hasExactSynonym oio:hasRelatedSynonym infantile choreoathetosis of Fisher infantile choreoathetosis of Fisher infantile choreoathetosis of fisher OMIM:118750 choreoathetosis, familial inverted OMIM:118750 updated infantile choreoathetosis of Fisher OMIM:118750 OMIM MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase oio:hasExactSynonym oio:hasRelatedSynonym hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1C hyperlipoproteinemia, type 1c OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM:118830 updated hyperlipoproteinemia, type 1C OMIM:118830 OMIM -MONDO:0007329 cirrhosis, familial oio:hasExactSynonym oio:hasRelatedSynonym Sen syndrome Sen syndrome sen syndrome OMIM:181270 scalp-ear-nipple syndrome OMIM:215600 updated Sen syndrome OMIM:181270 OMIM MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym clavicle, pseudarthrosis of, congenital OMIM:118980 clavicle, pseudarthrosis of, congenital OMIM:118980 updated clavicle, pseudarthrosis of, congenital OMIM:118980 OMIM MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym aplasia of tibia with ectrodactyly OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 updated aplasia of tibia with ectrodactyly OMIM:119100 OMIM MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym cleft hand and absent tibia OMIM:119100 split-hand/foot malformation with long bone deficiency 1 OMIM:119100, MESH:C536425 updated cleft hand and absent tibia OMIM:119100 OMIM @@ -77489,10 +75143,6 @@ MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym cl MONDO:0007336 isolated cleft palate oio:hasExactSynonym oio:hasRelatedSynonym CPI OMIM:119540 cleft palate, isolated http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:119540 updated CPI OMIM:119540 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome cpls syndrome OMIM:119550 syngnathia OMIM:119550 updated Cpls syndrome OMIM:119550 OMIM MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym syngnathia OMIM:119550 syngnathia OMIM:119550 updated syngnathia OMIM:119550 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Elschnig syndrome elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 updated Elschnig syndrome OMIM:119580 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome 1 OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 updated blepharocheilodontic syndrome 1 OMIM:119580 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym clefting, ectropion, and conical teeth OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580, GARD:0002071 updated clefting, ectropion, and conical teeth OMIM:119580 OMIM -MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 updated BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007340 cleidocranial dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym CLCD CLCD clcd OMIM:119600 cleidocranial dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006118 updated CLCD OMIM:119600 OMIM MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM:119800, MONDO:Lexical updated clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly OMIM:119800 OMIM MONDO:0007342 clubfoot oio:hasExactSynonym oio:hasRelatedSynonym CCF OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119800, MONDO:Lexical updated CCF OMIM:119800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -77522,7 +75172,6 @@ MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability oio:ha MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colon cancer, familial nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 updated colon cancer, familial nonpolyposis, type 1 OMIM:120435 OMIM MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 lynch syndrome 1 OMIM:120435 updated colorectal cancer, hereditary nonpolyposis, type 1 OMIM:120435 OMIM MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COCA1 COCA1 coca1 OMIM:120435 lynch syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:120435 updated COCA1 OMIM:120435 OMIM -MONDO:0007356 Lynch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Lynch syndrome 2 Lynch syndrome 2 lynch syndrome 2 OMIM:609310 lynch syndrome 2 OMIM:120435 updated Lynch syndrome 2 OMIM:609310 OMIM MONDO:0007360 branchiootic syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym bo syndrome 2 OMIM:120502 branchiootic syndrome 2 OMIM:120502 updated bo syndrome 2 OMIM:120502 OMIM MONDO:0007361 C1 inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement component 4, partial deficiency OF complement component 4, partial deficiency OF complement component 4, partial deficiency of OMIM:120790 complement component 4, partial deficiency of OMIM:120790 updated complement component 4, partial deficiency OF OMIM:120790 OMIM MONDO:0007362 cone-rod dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:120970 updated cone-rod dystrophy OMIM:120970 OMIM @@ -77541,7 +75190,6 @@ MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Cpx deficiency Cpx deficiency cpx deficiency OMIM:121300 coproporphyria, hereditary OMIM:121300 updated Cpx deficiency OMIM:121300 OMIM MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym coproporphyria, hereditary OMIM:121300 coproporphyria, hereditary OMIM:121300, MONDO:Lexical updated coproporphyria, hereditary OMIM:121300 OMIM MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym HCP OMIM:121300 coproporphyria, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121300 updated HCP OMIM:121300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Harderoporphyria harderoporphyria OMIM:618892 harderoporphyria OMIM:121300 updated Harderoporphyria OMIM:618892 OMIM MONDO:0007372 cornea plana 1, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym CNA1 OMIM:121400 cornea plana 1, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:121400 updated CNA1 OMIM:121400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007373 corneal degeneration, ribbonlike, with deafness oio:hasExactSynonym oio:hasRelatedSynonym band keratopathy with deafness OMIM:121450 corneal degeneration, ribbonlike, with deafness OMIM:121450 updated band keratopathy with deafness OMIM:121450 OMIM MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Schnyder corneal dystrophy, Schnyder corneal dystrophy, schnyder OMIM:121800 schnyder corneal dystrophy OMIM:121800 updated corneal dystrophy, Schnyder OMIM:121800 OMIM @@ -77562,8 +75210,6 @@ MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 updated corneal endothelial dystrophy 1, autosomal dominant, formerly OMIM:122000 OMIM MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym posterior polymorphous corneal dystrophy OMIM:122000 corneal dystrophy, posterior polymorphous, 1 OMIM:122000 updated posterior polymorphous corneal dystrophy OMIM:122000 OMIM MONDO:0007378 posterior polymorphous corneal dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym PPCD1 OMIM:122000 corneal dystrophy, posterior polymorphous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:122000 updated PPCD1 OMIM:122000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann epithelial corneal dystrophy, Meesmann epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated corneal dystrophy, Meesmann epithelial OMIM:122100 OMIM -MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated corneal dystrophy, juvenile epithelial, of Meesmann OMIM:122100 OMIM MONDO:0007379 Meesmann corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Meesmann corneal dystrophy, Meesmann Corneal dystrophy, Meesmann OMIMPS:122100 Corneal dystrophy, Meesmann OMIM:122100, MONDO:Lexical updated corneal dystrophy, Meesmann OMIMPS:122100 OMIM MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, lattice type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200, GARD:0009678 updated corneal dystrophy, lattice type 1 OMIM:122200 OMIM MONDO:0007380 lattice corneal dystrophy type I oio:hasExactSynonym oio:hasRelatedSynonym lattice corneal dystrophy, type 1 OMIM:122200 corneal dystrophy, lattice type 1 OMIM:122200 updated lattice corneal dystrophy, type 1 OMIM:122200 OMIM @@ -77581,10 +75227,8 @@ MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cdl Cdl cdl OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 updated Cdl OMIM:122470 OMIM MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym typus Degenerativus Amstelodamensis typus Degenerativus Amstelodamensis typus degenerativus amstelodamensis OMIM:122470 cornelia lange lange syndrome 1 OMIM:122470 updated typus Degenerativus Amstelodamensis OMIM:122470 OMIM MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDLS1 OMIM:122470 cornelia lange lange syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470, MONDO:Lexical updated CDLS1 OMIM:122470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007387 Cornelia de Lange syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CDL Cdl CDL OMIM:126550 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122470 updated CDL OMIM:126550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007388 congenitally short costocoracoid ligament oio:hasExactSynonym oio:hasRelatedSynonym costocoracoid ligament, congenitally short OMIM:122580 costocoracoid ligament, congenitally short OMIM:122580 updated costocoracoid ligament, congenitally short OMIM:122580 OMIM MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym spondylocostal dysplasia OMIM:122600 spondylocostal dysostosis 5 OMIM:122600 updated spondylocostal dysplasia OMIM:122600 OMIM -MONDO:0007389 spondylocostal dysostosis 5 oio:hasExactSynonym oio:hasRelatedSynonym Spondylothoracic Dysplasia Spondylothoracic Dysplasia spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive NORD:1915 updated Spondylothoracic Dysplasia OMIM:277300 OMIM MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym coumarin, poor metabolism of OMIM:122700 coumarin resistance OMIM:122700 updated coumarin, poor metabolism of OMIM:122700 OMIM MONDO:0007390 coumarin resistance oio:hasExactSynonym oio:hasRelatedSynonym warfarin resistance OMIM:122700 coumarin resistance OMIM:122700 updated warfarin resistance OMIM:122700 OMIM MONDO:0007396 dysostosis, Stanescu type oio:hasExactSynonym oio:hasRelatedSynonym craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 updated craniofacial dysostosis with diaphyseal hyperplasia OMIM:122900 OMIM @@ -77635,7 +75279,6 @@ MONDO:0007422 keratoderma hereditarium mutilans oio:hasExactSynonym oio:hasRelat MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:genemap2, OMIM:124900 updated deafness, autosomal dominant 1, with or without thrombocytopenia OMIM:124900 OMIM MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 oio:hasExactSynonym oio:hasNarrowSynonym DFNA1 OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110541, OMIM:124900, MONDO:Lexical updated DFNA1 OMIM:124900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy oio:hasExactSynonym oio:hasRelatedSynonym dominant optic atrophy plus syndrome OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM:125250 updated dominant optic atrophy plus syndrome OMIM:125250 OMIM -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy oio:hasExactSynonym oio:hasRelatedSynonym Casil Casil casil OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 OMIM:125310 updated Casil OMIM:125310 OMIM MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym dental noneruption OMIM:125350 failure of tooth eruption, primary OMIM:125350 updated dental noneruption OMIM:125350 OMIM MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym failure of tooth eruption, primary OMIM:125350 failure of tooth eruption, primary OMIM:125350, MONDO:Lexical updated failure of tooth eruption, primary OMIM:125350 OMIM MONDO:0007434 primary failure of tooth eruption oio:hasExactSynonym oio:hasRelatedSynonym posterior Openbite malocclusion, familial posterior Openbite malocclusion, familial posterior openbite malocclusion, familial OMIM:125350 failure of tooth eruption, primary OMIM:125350 updated posterior Openbite malocclusion, familial OMIM:125350 OMIM @@ -77657,13 +75300,6 @@ MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:125480 updated bipolar affective disorder OMIM:125480 OMIM MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis OMIM:125480 major affective disorder 1 OMIM:125480 updated manic-depressive psychosis OMIM:125480 OMIM MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, autosomal OMIM:125480 major affective disorder 1 OMIM:125480 updated manic-depressive psychosis, autosomal OMIM:125480 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:125480 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:125480 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:125480 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:125480 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:125480 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:125480 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0007440 major affective disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:125480 updated bipolar affective disorder OMIM:612372 OMIM MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym DGI-II DGI-II dgi-ii OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 updated DGI-II OMIM:125490 OMIM MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta 1 OMIM:125490 dentinogenesis imperfecta 1 MONDO:Lexical, OMIM:125490 updated dentinogenesis imperfecta 1 OMIM:125490 OMIM MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 dentinogenesis imperfecta 1 OMIM:125490 updated dentinogenesis imperfecta without osteogenesis imperfecta OMIM:125490 OMIM @@ -77676,10 +75312,6 @@ MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasE MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, partial, unilateral OMIM:125520 cayler cardiofacial syndrome OMIM:125520 updated facial paresis, partial, unilateral OMIM:125520 OMIM MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym oio:hasRelatedSynonym DPR OMIM:125595 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:125595 updated DPR OMIM:125595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007447 autosomal dominant vibratory urticaria oio:hasExactSynonym oio:hasBroadSynonym vibratory angioedema OMIM:125630 vibratory urticaria OMIM:193050, MONDO:0024254, MONDO:0008657 updated vibratory angioedema OMIM:125630 OMIM -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermodistortive urticaria Dermodistortive urticaria dermodistortive urticaria OMIM:125630 vibratory urticaria MESH:C536612 updated Dermodistortive urticaria OMIM:125630 OMIM -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory angioedema OMIM:125630 vibratory urticaria MESH:C536612 updated vibratory angioedema OMIM:125630 OMIM -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym vibratory urticaria OMIM:125630 vibratory urticaria MESH:C536612 updated vibratory urticaria OMIM:125630 OMIM -MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym VBU OMIM:125630 vibratory urticaria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536612 updated VBU OMIM:125630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym Dermatographism, familial Dermatographism, familial dermatographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 updated Dermatographism, familial OMIM:125635 OMIM MONDO:0007448 familial dermatographia oio:hasExactSynonym oio:hasRelatedSynonym dermographism, familial OMIM:125635 dermographism, familial OMIM:125635, MESH:C536612 updated dermographism, familial OMIM:125635 OMIM MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-Tooth type ectodermal dysplasia, hair-nail-tooth type OMIM:125640 dermoodontodysplasia OMIM:125640 updated ectodermal dysplasia, hair-nail-Tooth type OMIM:125640 OMIM @@ -77701,8 +75333,6 @@ MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym alb MONDO:0007459 dilution, pigmentary oio:hasExactSynonym oio:hasRelatedSynonym hypopigmentation OMIM:126070 dilution, pigmentary OMIM:126070 updated hypopigmentation OMIM:126070 OMIM MONDO:0007460 discrimination, Two-point, reduction 1N oio:hasExactSynonym oio:hasRelatedSynonym sensory discrimination OMIM:126180 discrimination, two-point, reduction 1n OMIM:126180 updated sensory discrimination OMIM:126180 OMIM MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome oio:hasExactSynonym oio:hasRelatedSynonym disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 updated disproportionate short stature with ptosis and valvular heart lesions OMIM:126190 OMIM -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 updated disseminated sclerosis OMIM:126200 OMIM -MONDO:0007462 multiple sclerosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200 updated MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007463 distal osteosclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis, distal OMIM:126250 distal osteosclerosis OMIM:126250 updated osteosclerosis, distal OMIM:126250 OMIM MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym D1Z1 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 updated D1Z1 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007466 DNA, satellite, 3 oio:hasExactSynonym oio:hasRelatedSynonym HS3 OMIM:126370 dna, satellite, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:126370 updated HS3 OMIM:126370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -77711,13 +75341,7 @@ MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSyn MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym drusen, radial, autosomal dominant OMIM:126600 doyne honeycomb retinal dystrophy OMIM:126600 updated drusen, radial, autosomal dominant OMIM:126600 OMIM MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, cuticular OMIM:126700 basal laminar drusen OMIM:126700 updated drusen, cuticular OMIM:126700 OMIM MONDO:0007472 basal laminar drusen oio:hasExactSynonym oio:hasRelatedSynonym drusen, early adult-onset, grouped OMIM:126700 basal laminar drusen OMIM:126700 updated drusen, early adult-onset, grouped OMIM:126700 OMIM -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 GARD:0006288, OMIM:126800 updated Duane anomaly OMIM:126800 OMIM -MONDO:0007473 Duane retraction syndrome oio:hasExactSynonym oio:hasRelatedSynonym retraction syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 updated retraction syndrome OMIM:126800 OMIM MONDO:0007476 familial Dupuytren contracture oio:hasExactSynonym oio:hasRelatedSynonym Dupuytren contracture Dupuytren contracture dupuytren contracture OMIM:126900 dupuytren contracture OMIM:126900 updated Dupuytren contracture OMIM:126900 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism with tall vertebrae OMIM:126950 dwarfism with tall vertebrae OMIM:126950 updated dwarfism with tall vertebrae OMIM:126950 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 MESH:C535314 updated 3M syndrome OMIM:273750 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym three M syndrome 1 three M syndrome 1 three m syndrome 1 OMIM:273750 three m syndrome 1 MESH:C535314 updated three M syndrome 1 OMIM:273750 OMIM -MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasNarrowSynonym 3M1 OMIM:273750 three m syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535314 updated 3M1 OMIM:273750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Kenny syndrome kenny syndrome OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 updated Kenny syndrome OMIM:127000 OMIM MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kenny-Caffey syndrome, type 2 Kenny-Caffey syndrome, type 2 kenny-caffey syndrome, type 2 OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000, MONDO:Lexical updated Kenny-Caffey syndrome, type 2 OMIM:127000 OMIM MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasRelatedSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 kenny-caffey syndrome, type 2 OMIM:127000 updated dwarfism, cortical thickening of tubular bones, and transient hypocalcemia OMIM:127000 OMIM @@ -77761,10 +75385,8 @@ MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSyno MONDO:0007507 absence of fingerprints-congenital milia syndrome oio:hasExactSynonym oio:hasRelatedSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 basan syndrome OMIM:129200, GARD:0002336 updated adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities OMIM:129200 OMIM MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM:129400 rapp-hodgkin syndrome OMIM:129400 updated ectodermal dysplasia, anhidrotic, with cleft Lip/palate OMIM:129400 OMIM MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHS OMIM:129400 rapp-hodgkin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:129400, MONDO:Lexical, MESH:C535289 updated RHS OMIM:129400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym oio:hasRelatedSynonym orofacial cleft 8 OMIM:618149 orofacial cleft 8 OMIM:129400 updated orofacial cleft 8 OMIM:618149 OMIM MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:129490 updated ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 OMIM MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD10A OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:129490 updated ECTD10A OMIM:129490 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:129490 updated ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 OMIM MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clouston hidrotic ectodermal dysplasia Clouston hidrotic ectodermal dysplasia clouston hidrotic ectodermal dysplasia OMIM:129500 clouston syndrome OMIM:129500 updated Clouston hidrotic ectodermal dysplasia OMIM:129500 OMIM MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, Clouston type ectodermal dysplasia 2, clouston type OMIM:129500 clouston syndrome OMIM:129500 updated ectodermal dysplasia 2, Clouston type OMIM:129500 OMIM MONDO:0007510 Clouston syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 clouston syndrome OMIM:129500 updated ectodermal dysplasia, hidrotic, 2, formerly OMIM:129500 OMIM @@ -77787,7 +75409,6 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type VIIA, autosomal dominant Ehlers-Danlos syndrome, type VIIA, autosomal dominant ehlers-danlos syndrome, type viia, autosomal dominant OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 OMIM:130060 updated Ehlers-Danlos syndrome, type VIIA, autosomal dominant OMIM:130060 OMIM MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 GARD:0002084, MESH:C562625, OMIM:130060 updated arthrochalasis multiplex congenita OMIM:130060 OMIM MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym EDSARTH1 OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130060 updated EDSARTH1 OMIM:130060 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasNarrowSynonym EDS 7B EDS 7B eds 7b OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 OMIM:130060 updated EDS 7B OMIM:617821 OMIM MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym EDS, unspecified type EDS, unspecified type eds, unspecified type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 updated EDS, unspecified type OMIM:130090 OMIM MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, Friedman-Harrod type Ehlers-Danlos syndrome, Friedman-Harrod type ehlers-danlos syndrome, friedman-harrod type OMIM:130090 ehlers-danlos syndrome, autosomal dominant, type unspecified OMIM:130090 updated Ehlers-Danlos syndrome, Friedman-Harrod type OMIM:130090 OMIM MONDO:0007529 elastosis perforans serpiginosa oio:hasExactSynonym oio:hasRelatedSynonym Miescher elastoma Miescher elastoma miescher elastoma OMIM:130100 elastosis perforans serpiginosa OMIM:130100 updated Miescher elastoma OMIM:130100 OMIM @@ -77798,7 +75419,6 @@ MONDO:0007533 elliptocytosis 2 oio:hasExactSynonym oio:hasRelatedSynonym EL2 O MONDO:0007534 Beckwith-Wiedemann syndrome oio:hasExactSynonym oio:hasRelatedSynonym EMG syndrome EMG syndrome emg syndrome OMIM:130650 beckwith-wiedemann syndrome OMIM:130650 updated EMG syndrome OMIM:130650 OMIM MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lms Lms lms OMIM:130720 lateral meningocele syndrome OMIM:130720 updated Lms OMIM:130720 OMIM MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMNS OMIM:130720 lateral meningocele syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720, MONDO:Lexical updated LMNS OMIM:130720 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS OMIM:603543 limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 updated LMS OMIM:603543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 updated amelogenesis imperfecta, hypocalcification type, autosomal dominant OMIM:130900 OMIM MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomineralization type OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 updated amelogenesis imperfecta, hypomineralization type OMIM:130900 OMIM MONDO:0007538 amelogenesis imperfecta, type 3A oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, type 3 OMIM:130900 amelogenesis imperfecta, type 3a OMIM:130900 updated amelogenesis imperfecta, type 3 OMIM:130900 OMIM @@ -77871,7 +75491,6 @@ MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple osteochondromas OMIM:133700 exostoses, multiple, type 1 OMIM:133700 updated multiple osteochondromas OMIM:133700 OMIM MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:133700 exostoses, multiple, type 1 OMIM:133700 updated osteochondromatosis OMIM:133700 OMIM MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym EXT EXT ext OMIM:133700 exostoses, multiple, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133700 updated EXT OMIM:133700 OMIM -MONDO:0007585 exostoses, multiple, type 1 oio:hasExactSynonym oio:hasRelatedSynonym osteochondromatosis OMIM:166000 enchondromatosis, multiple, ollier type OMIM:133700 updated osteochondromatosis OMIM:166000 OMIM MONDO:0007586 exostoses, multiple, type 2 oio:hasExactSynonym oio:hasRelatedSynonym EXT2 Ext2 EXT2 OMIM:133701 exostoses, multiple, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133701 updated EXT2 OMIM:133701 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Rasmussen syndrome rasmussen syndrome OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 updated Rasmussen syndrome OMIM:133705 OMIM MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 updated external auditory canal, bilateral atresia of, with congenital vertical talus OMIM:133705 OMIM @@ -77912,12 +75531,6 @@ MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym HTC3 OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:135400, MONDO:Lexical updated HTC3 OMIM:135400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with progressive deafness OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 updated fibromatosis, gingival, with progressive deafness OMIM:135550 OMIM MONDO:0007612 gingival fibromatosis-progressive deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym gingival fibromatosis with sensorineural hearing loss OMIM:135550 fibromatosis, gingival, with progressive deafness OMIM:135550 updated gingival fibromatosis with sensorineural hearing loss OMIM:135550 OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym Feom1 locus Feom1 locus feom1 locus OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 updated Feom1 locus OMIM:135700 OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym blepharoptosis with absent eye movements OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 updated blepharoptosis with absent eye movements OMIM:135700 OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym fibrosis of extraocular muscles, congenital, 1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 MONDO:Lexical, OMIM:135700 updated fibrosis of extraocular muscles, congenital, 1 OMIM:135700 OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia, congenital OMIM:135700 fibrosis of extraocular muscles, congenital, 1 OMIM:135700 updated ophthalmoplegia, congenital OMIM:135700 OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasRelatedSynonym CFEOM1 OMIM:135700 fibrosis of extraocular muscles, congenital, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:135700 updated CFEOM1 OMIM:135700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome Tukel syndrome tukel syndrome OMIM:609428 tukel syndrome DOID:0080143 updated Tukel syndrome OMIM:609428 OMIM MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, Duplication of, with absence of tibia and radius fibula and ulna, duplication of, with absence of tibia and radius OMIM:135750 laurin-sandrow syndrome OMIM:135750 updated fibula and ulna, Duplication of, with absence of tibia and radius OMIM:135750 OMIM MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror hands and feet with nasal defects OMIM:135750 laurin-sandrow syndrome OMIM:135750 updated mirror hands and feet with nasal defects OMIM:135750 OMIM MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym mirror-Image polydactyly mirror-Image polydactyly mirror-image polydactyly OMIM:135750 laurin-sandrow syndrome OMIM:135750 updated mirror-Image polydactyly OMIM:135750 OMIM @@ -77926,7 +75539,6 @@ MONDO:0007615 laurin-Sandrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome coffin-siris syndrome OMIM:135900 coffin-siris syndrome 1 MONDO:Lexical, OMIM:135900 updated COFFIN-SIRIS syndrome OMIM:135900 OMIM MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym fifth digit syndrome OMIM:135900 coffin-siris syndrome 1 OMIM:135900, DOID:0070042 updated fifth digit syndrome OMIM:135900 OMIM MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 12 OMIM:135900 coffin-siris syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:614562 updated mental retardation, autosomal dominant 12 OMIM:135900 OMIM -MONDO:0007617 Coffin-Siris syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-SIRIS syndrome COFFIN-SIRIS syndrome Coffin-Siris syndrome OMIMPS:135900 Coffin-Siris syndrome MONDO:Lexical, OMIM:135900 updated COFFIN-SIRIS syndrome OMIMPS:135900 OMIM MONDO:0007618 Eng-Strom syndrome oio:hasExactSynonym oio:hasRelatedSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 updated finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950 OMIM MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym adermatoglyphia OMIM:136000 adermatoglyphia MONDO:Lexical, OMIM:136000, OMIM:genemap2, DOID:0111357 updated adermatoglyphia OMIM:136000 OMIM MONDO:0007619 isolated congenital adermatoglyphia oio:hasExactSynonym oio:hasBroadSynonym fingerprints, absence of OMIM:136000 adermatoglyphia OMIM:136000 updated fingerprints, absence of OMIM:136000 OMIM @@ -77953,7 +75565,6 @@ MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal malformation OMIM:136760 frontonasal dysplasia 1 OMIM:136760 updated frontonasal malformation OMIM:136760 OMIM MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym median Facial cleft syndrome median Facial cleft syndrome median facial cleft syndrome OMIM:136760 frontonasal dysplasia 1 OMIM:136760 updated median Facial cleft syndrome OMIM:136760 OMIM MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:136760, MONDO:Lexical updated FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia OMIMPS:136760 Frontonasal dysplasia OMIM:136760 updated frontonasal dysplasia OMIMPS:136760 OMIM MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, fuchs endothelial, early-onset OMIM:136800 corneal dystrophy, fuchs endothelial, 1 OMIM:136800 updated corneal dystrophy, Fuchs endothelial, early-onset OMIM:136800 OMIM MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 oio:hasExactSynonym oio:hasRelatedSynonym FECD1 OMIM:136800 corneal dystrophy, fuchs endothelial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:136800 updated FECD1 OMIM:136800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007638 fucosidase regulator oio:hasExactSynonym oio:hasRelatedSynonym Alpha-L-fucosidase regulator Alpha-L-fucosidase regulator alpha-l-fucosidase regulator OMIM:136830 fucosidase regulator OMIM:136830 updated Alpha-L-fucosidase regulator OMIM:136830 OMIM @@ -77993,13 +75604,6 @@ MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelat MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulocystic kidney, familial hypoplastic OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 updated glomerulocystic kidney, familial hypoplastic OMIM:137920 OMIM MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 updated hyperuricemic nephropathy, familial juvenile, atypical OMIM:137920 OMIM MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the young, type 5 OMIM:137920 renal cysts and diabetes syndrome OMIM:137920 updated maturity-onset diabetes of the Young, type 5 OMIM:137920 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 1 OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950, MESH:C536826, MONDO:Lexical updated glomerulopathy with fibronectin deposits 1 OMIM:137950 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826, GARD:0009268 updated glomerulopathy with giant fibrillar deposits OMIM:137950 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym lobular glomerulopathy, familial OMIM:137950 glomerulopathy with fibronectin deposits 1 MESH:C536826 updated lobular glomerulopathy, familial OMIM:137950 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND1 OMIM:137950 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137950, MESH:C536826, MONDO:Lexical, GARD:0009268 updated GFND1 OMIM:137950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerular nephritis, familial, with fibronectin deposits OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 updated glomerular nephritis, familial, with fibronectin deposits OMIM:601894 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with fibronectin deposits 2 OMIM:601894 glomerulopathy with fibronectin deposits 2 MESH:C536826 updated glomerulopathy with fibronectin deposits 2 OMIM:601894 OMIM -MONDO:0007671 fibronectin glomerulopathy oio:hasExactSynonym oio:hasRelatedSynonym GFND2 OMIM:601894 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536826 updated GFND2 OMIM:601894 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym GLOMUVENOUS malformations GLOMUVENOUS malformations glomuvenous malformations OMIM:138000 glomuvenous malformations MONDO:Lexical, OMIM:138000 updated GLOMUVENOUS malformations OMIM:138000 OMIM MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomas, multiple OMIM:138000 glomuvenous malformations OMIM:138000 updated glomangiomas, multiple OMIM:138000 OMIM MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, multiple OMIM:138000 glomuvenous malformations OMIM:138000 updated glomus tumors, multiple OMIM:138000 OMIM @@ -78048,10 +75652,8 @@ MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrom MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial OMIM:141200 hematuria, benign familial, 1 OMIM:141200, MONDO:Lexical updated hematuria, benign familial OMIM:141200 OMIM MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 updated thin membrane nephropathy OMIM:141200 OMIM MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym thin-basement-membrane nephropathy OMIM:141200 hematuria, benign familial, 1 OMIM:141200 updated thin-basement-membrane nephropathy OMIM:141200 OMIM -MONDO:0007709 hematuria, benign familial, 1 oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial hematuria, benign familial Hematuria, benign familial OMIMPS:141200 Hematuria, benign familial OMIM:141200, MONDO:Lexical updated hematuria, benign familial OMIMPS:141200 OMIM MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial atrophy, progressive OMIM:141300 hemifacial atrophy, progressive MONDO:Lexical, OMIM:141300 updated hemifacial atrophy, progressive OMIM:141300 OMIM MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym HFA OMIM:141300 hemifacial atrophy, progressive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:141300, MONDO:Lexical updated HFA OMIM:141300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA OMIM:169400 pelger-huet anomaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 updated PHA OMIM:169400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007711 Bencze syndrome oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia with strabismus OMIM:141350 hemifacial hyperplasia with strabismus OMIM:141350 updated hemifacial hyperplasia with strabismus OMIM:141350 OMIM MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Goldenhar syndrome with ipsilateral radial defect Goldenhar syndrome with ipsilateral radial defect goldenhar syndrome with ipsilateral radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 updated Goldenhar syndrome with ipsilateral radial defect OMIM:141400 OMIM MONDO:0007712 oculoauriculovertebral spectrum with radial defects oio:hasExactSynonym oio:hasRelatedSynonym Oavs with radial defect Oavs with radial defect oavs with radial defect OMIM:141400 hemifacial microsomia with radial defects OMIM:141400 updated Oavs with radial defect OMIM:141400 OMIM @@ -78074,10 +75676,8 @@ MONDO:0007721 hiatus hernia oio:hasExactSynonym oio:hasRelatedSynonym hernia, hi MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease Hirschsprung disease hirschsprung disease OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 updated Hirschsprung disease OMIM:142623 OMIM MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym aganglionic megacolon OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 updated aganglionic megacolon OMIM:142623 OMIM MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym megacolon, aganglionic OMIM:142623 hirschsprung disease, susceptibility to, 1 OMIM:142623 updated megacolon, aganglionic OMIM:142623 OMIM -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 oio:hasExactSynonym oio:hasBroadSynonym Hirschsprung disease OMIMPS:142623 Hirschsprung disease OMIM:142623 updated Hirschsprung disease OMIMPS:142623 OMIM MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:142625 updated hirsutism, skeletal dysplasia, and mental retardation OMIM:142625 OMIM MONDO:0007725 hereditary progressive mucinous histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym histiocytosis, progressive mucinous OMIM:142630 histiocytosis, progressive mucinous OMIM:142630 updated histiocytosis, progressive mucinous OMIM:142630 OMIM -MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym BHD BHD bhd OMIM:135150 birt-hogg-dube syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:142669, MONDO:Lexical updated BHD OMIM:135150 OMIM MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym Beukes hip dysplasia Beukes hip dysplasia beukes hip dysplasia OMIM:142669 beukes hip dysplasia OMIM:142669, MONDO:Lexical updated Beukes hip dysplasia OMIM:142669 OMIM MONDO:0007726 hip dysplasia, Beukes type oio:hasExactSynonym oio:hasRelatedSynonym osteoarthropathy, premature degenerative, of hip OMIM:142669 beukes hip dysplasia OMIM:142669 updated osteoarthropathy, premature degenerative, of hip OMIM:142669 OMIM MONDO:0007727 autosomal dominant familial periodic fever oio:hasExactSynonym oio:hasRelatedSynonym periodic FEVER, familial, autosomal dominant periodic FEVER, familial, autosomal dominant periodic fever, familial, autosomal dominant OMIM:142680 periodic fever, familial, autosomal dominant OMIM:142680 updated periodic FEVER, familial, autosomal dominant OMIM:142680 OMIM @@ -78132,9 +75732,6 @@ MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio: MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, Vorner type palmoplantar keratoderma, Vorner type palmoplantar keratoderma, vorner type OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 updated palmoplantar keratoderma, Vorner type OMIM:144200 OMIM MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 updated palmoplantar keratoderma, epidermolytic, with knuckle pads OMIM:144200 OMIM MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:144200 updated tylosis OMIM:144200 OMIM -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:144200 updated tylosis OMIM:600962 OMIM -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym keratosis of Greither keratosis of Greither keratosis of greither OMIM:620411 palmoplantar keratoderma, epidermolytic, 2 OMIM:144200 updated keratosis of Greither OMIM:620411 OMIM -MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym palmoplantar keratoderma, epidermolytic palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, epidermolytic OMIMPS:144200 Palmoplantar keratoderma, epidermolytic MONDO:Lexical, OMIM:144200 updated palmoplantar keratoderma, epidermolytic OMIMPS:144200 OMIM MONDO:0007759 hyperlipidemia, familial combined, LPL related oio:hasExactSynonym oio:hasRelatedSynonym familial combined hyperlipidemia OMIM:144250 hyperlipidemia, familial combined, 3 OMIM:144250 updated familial combined hyperlipidemia OMIM:144250 OMIM MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia with hyperprebetalipoproteinemia, familial OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 updated hyperchylomicronemia with Hyperprebetalipoproteinemia, familial OMIM:144650 OMIM MONDO:0007762 hyperlipoproteinemia type V oio:hasExactSynonym oio:hasRelatedSynonym hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia, type 5 OMIM:144650 updated hyperchylomicronemia, late-onset OMIM:144650 OMIM @@ -78166,19 +75763,11 @@ MONDO:0007773 hyperproglucagonemia oio:hasExactSynonym oio:hasRelatedSynonym glu MONDO:0007774 hyperreflexia oio:hasExactSynonym oio:hasRelatedSynonym HRX OMIM:145290 hyperreflexia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145290, MONDO:Lexical updated HRX OMIM:145290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential OMIM:145500 hypertension, essential OMIM:145500 updated hypertension, essential OMIM:145500 OMIM MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym EHT EHT eht OMIM:145500 hypertension, essential http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145500 updated EHT OMIM:145500 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasRelatedSynonym hypertension, essential, susceptibility to, 1 OMIM:603918 hypertension, essential, susceptibility to, 1 OMIM:145500, OMIM:genemap2 updated hypertension, essential, susceptibility to, 1 OMIM:603918 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 2 OMIM:604329 hypertension, essential, susceptibility to, 2 OMIM:genemap2, OMIM:145500 updated hypertension, essential, susceptibility to, 2 OMIM:604329 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:genemap2, OMIM:145500 updated hypertension, essential, susceptibility to, 3 OMIM:607329 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 4 OMIM:608742 hypertension, essential, susceptibility to, 4 OMIM:genemap2, OMIM:145500 updated hypertension, essential, susceptibility to, 4 OMIM:608742 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 5 OMIM:610261 hypertension, essential, susceptibility to, 5 OMIM:genemap2, OMIM:145500 updated hypertension, essential, susceptibility to, 5 OMIM:610261 OMIM -MONDO:0007781 essential hypertension, genetic oio:hasExactSynonym oio:hasNarrowSynonym hypertension, essential, susceptibility to, 6 OMIM:610262 hypertension, essential, susceptibility to, 6 OMIM:genemap2, OMIM:145500 updated hypertension, essential, susceptibility to, 6 OMIM:610262 OMIM MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea oio:hasExactSynonym oio:hasRelatedSynonym farmer syndrome OMIM:145590 hyperthermia, cutaneous, with headaches and nausea OMIM:145590 updated farmer syndrome OMIM:145590 OMIM MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperpyrexia, malignant OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363 updated hyperpyrexia, malignant OMIM:145600 OMIM MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperthermia of anesthesia OMIM:145600 malignant hyperthermia, susceptibility to, 1 OMIM:145600, GARD:0003363, MESH:C535694 updated hyperthermia of anesthesia OMIM:145600 OMIM MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS MHS mhs OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:145600, GARD:0003363, MESH:C535694 updated MHS OMIM:145600 OMIM MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MHS1 OMIM:145600 malignant hyperthermia, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C535694, GARD:0003363, MONDO:Lexical, OMIM:145600 updated MHS1 OMIM:145600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King syndrome King syndrome king syndrome OMIM:619542 king-denborough syndrome OMIM:145600 updated King syndrome OMIM:619542 OMIM -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym King-Denborough syndrome King-Denborough syndrome king-denborough syndrome OMIM:619542 king-denborough syndrome OMIM:145600 updated King-Denborough syndrome OMIM:619542 OMIM MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650 updated hyperthyroidism, familial, due to inappropriate thyrotropin secretion OMIM:145650 OMIM MONDO:0007784 selective pituitary resistance to thyroid hormone oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone resistance, selective pituitary OMIM:145650 thyroid hormone resistance, selective pituitary OMIM:145650, MONDO:Lexical updated thyroid hormone resistance, selective pituitary OMIM:145650 OMIM MONDO:0007785 hyperthyroxinemia, dystransthyretinemic oio:hasExactSynonym oio:hasRelatedSynonym euthryroidal hyperthyroxinemia 2 OMIM:145680 hyperthyroxinemia, dystransthyretinemic OMIM:145680 updated euthryroidal hyperthyroxinemia 2 OMIM:145680 OMIM @@ -78217,7 +75806,6 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynon MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE responsiveness, ATOPIC IgE responsiveness, ATOPIC ige responsiveness, atopic OMIM:147050 ige responsiveness, atopic OMIM:147050 updated IgE responsiveness, ATOPIC OMIM:147050 OMIM MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IgE, level of IgE, level of ige, level of OMIM:147050 ige responsiveness, atopic OMIM:147050 updated IgE, level of OMIM:147050 OMIM MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym oio:hasRelatedSynonym IGER OMIM:147050 ige responsiveness, atopic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147050, MONDO:Lexical updated IGER OMIM:147050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym oio:hasBroadSynonym hyper-IgE recurrent infection syndrome hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome OMIMPS:147060 Hyper-IgE recurrent infection syndrome NCIT:C126342 updated hyper-IgE recurrent infection syndrome OMIMPS:147060 OMIM MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused incisors Fused incisors fused incisors OMIM:147250 solitary median maxillary central incisor OMIM:147250 updated Fused incisors OMIM:147250 OMIM MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym incisors, Fused incisors, Fused incisors, fused OMIM:147250 solitary median maxillary central incisor OMIM:147250 updated incisors, Fused OMIM:147250 OMIM MONDO:0007819 solitary median maxillary central incisor syndrome oio:hasExactSynonym oio:hasRelatedSynonym single central maxillary incisor OMIM:147250 solitary median maxillary central incisor OMIM:147250 updated single central maxillary incisor OMIM:147250 OMIM @@ -78236,19 +75824,15 @@ MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 oio:hasExactSynonym oio MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSULINOMATOSIS and diabetes mellitus INSULINOMATOSIS and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 updated INSULINOMATOSIS and diabetes mellitus OMIM:147630 OMIM MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym Insulinomatosis and diabetes mellitus Insulinomatosis and diabetes mellitus insulinomatosis and diabetes mellitus OMIM:147630 insulinomatosis and diabetes mellitus OMIM:147630 updated Insulinomatosis and diabetes mellitus OMIM:147630 OMIM MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym INSDM OMIM:147630 insulinomatosis and diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147630 updated INSDM OMIM:147630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 NCIT:C4375 updated nesidioblastosis OMIM:601820 OMIM MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootoradial syndrome OMIM:147750 ivic syndrome OMIM:147750 updated oculootoradial syndrome OMIM:147750 OMIM MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 ivic syndrome OMIM:147750 updated radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia OMIM:147750 OMIM -MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym OORS OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000269 updated OORS OMIM:619356 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aadh syndrome Aadh syndrome aadh syndrome OMIM:147770 johnson neuroectodermal syndrome OMIM:147770 updated Aadh syndrome OMIM:147770 OMIM MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome OMIM:147791 jacobsen syndrome OMIM:147791 updated chromosome 11q deletion syndrome OMIM:147791 OMIM MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym partial 11q monosomy syndrome OMIM:147791 jacobsen syndrome OMIM:147791 updated partial 11q monosomy syndrome OMIM:147791 OMIM MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:147791 jacobsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical updated JBS OMIM:147791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS OMIM:243800 johanson-blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical updated JBS OMIM:243800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 1 Aase-Smith syndrome 1 aase-smith syndrome 1 OMIM:147800 aase-smith syndrome 1 OMIM:147800 updated Aase-Smith syndrome 1 OMIM:147800 OMIM MONDO:0007839 Aase-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Joint contractures with Other abnormalities Joint contractures with Other abnormalities joint contractures with other abnormalities OMIM:147800 aase-smith syndrome 1 OMIM:147800 updated Joint contractures with Other abnormalities OMIM:147800 OMIM MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ICPPS OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147891 updated ICPPS OMIM:147891 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS OMIM:184850 stiff-person syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 updated SPS OMIM:184850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS Xi, formerly EDS Xi, formerly eds xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 updated EDS Xi, formerly OMIM:147900 OMIM MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym EDS11, formerly EDS11, formerly eds11, formerly OMIM:147900 joint laxity, familial OMIM:147900 updated EDS11, formerly OMIM:147900 OMIM MONDO:0007842 joint laxity, familial oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Xi, formerly Ehlers-Danlos syndrome, type Xi, formerly ehlers-danlos syndrome, type xi, formerly OMIM:147900 joint laxity, familial OMIM:147900 updated Ehlers-Danlos syndrome, type Xi, formerly OMIM:147900 OMIM @@ -78258,7 +75842,6 @@ MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome Kabuki syndrome kabuki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 updated Kabuki syndrome OMIM:147920 OMIM MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Niikawa-Kuroki syndrome Niikawa-Kuroki syndrome niikawa-kuroki syndrome OMIM:147920 kabuki syndrome 1 OMIM:147920 updated Niikawa-Kuroki syndrome OMIM:147920 OMIM MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KABUK1 OMIM:147920 kabuki syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147920, MONDO:Lexical updated KABUK1 OMIM:147920 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007843 Kabuki syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Kabuki syndrome OMIMPS:147920 Kabuki syndrome OMIM:147920 updated Kabuki syndrome OMIMPS:147920 OMIM MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym Kallmann syndrome 2 Kallmann syndrome 2 kallmann syndrome 2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia OMIM:147950 updated Kallmann syndrome 2 OMIM:147950 OMIM MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH2 OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147950, MONDO:Lexical updated HH2 OMIM:147950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007845 Kaposi sarcoma, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 kaposi sarcoma, susceptibility to OMIM:148000 updated multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 OMIM @@ -78322,7 +75905,6 @@ MONDO:0007874 trichorhinophalangeal syndrome type II oio:hasExactSynonym oio:has MONDO:0007875 Larsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym LRS OMIM:150250 larsen syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:150250, MONDO:Lexical updated LRS OMIM:150250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym Labd Labd labd OMIM:150260 laryngeal abductor paralysis OMIM:150260 updated Labd OMIM:150260 OMIM MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:150260 updated vocal cord dysfunction, familial OMIM:150260 OMIM -MONDO:0007876 laryngeal abductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:150260 updated vocal cord dysfunction, familial OMIM:308850 OMIM MONDO:0007877 laryngeal adductor paralysis oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, adductor type OMIM:150270 laryngeal adductor paralysis OMIM:150270 updated vocal cord dysfunction, adductor type OMIM:150270 OMIM MONDO:0007878 congenital laryngomalacia oio:hasExactSynonym oio:hasRelatedSynonym laryngomalacia OMIM:150280 laryngomalacia OMIM:150280 updated laryngomalacia OMIM:150280 OMIM MONDO:0007879 larynx atresia oio:hasExactSynonym oio:hasRelatedSynonym larynx, congenital partial atresia OF larynx, congenital partial atresia OF larynx, congenital partial atresia of OMIM:150300 larynx, congenital partial atresia of OMIM:150300 updated larynx, congenital partial atresia OF OMIM:150300 OMIM @@ -78421,7 +76003,6 @@ MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins-Franceschetti syndrome Treacher Collins-Franceschetti syndrome treacher collins-franceschetti syndrome OMIM:154500 treacher collins syndrome 1 OMIM:154500 updated Treacher Collins-Franceschetti syndrome OMIM:154500 OMIM MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mandibulofacial dysostosis OMIM:154500 treacher collins syndrome 1 OMIM:154500 updated mandibulofacial dysostosis OMIM:154500 OMIM MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym TCS1 OMIM:154500 treacher collins syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154500 updated TCS1 OMIM:154500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007944 Treacher Collins syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Treacher Collins syndrome OMIMPS:154500 Treacher Collins syndrome OMIM:154500 updated Treacher Collins syndrome OMIMPS:154500 OMIM MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type oio:hasExactSynonym oio:hasRelatedSynonym phosphodiester glycoside deficiency OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese type OMIM:154570 updated phosphodiester glycoside deficiency OMIM:154570 OMIM MONDO:0007949 Marshall syndrome oio:hasExactSynonym oio:hasRelatedSynonym MRSHS OMIM:154780 marshall syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:154780 updated MRSHS OMIM:154780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007951 masticatory muscles, hypertrophy of oio:hasExactSynonym oio:hasRelatedSynonym masseter muscle Hypertrophy masseter muscle Hypertrophy masseter muscle hypertrophy OMIM:154850 masticatory muscles, hypertrophy of OMIM:154850 updated masseter muscle Hypertrophy OMIM:154850 OMIM @@ -78438,7 +76019,6 @@ MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSy MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, familial OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 updated melanoma, familial OMIM:155600 OMIM MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, malignant OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 OMIM:155600 updated melanoma, malignant OMIM:155600 OMIM MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym CMM1 OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155600 updated CMM1 OMIM:155600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym melanoma, cutaneous malignant melanoma, cutaneous malignant Melanoma, cutaneous malignant OMIMPS:155600 Melanoma, cutaneous malignant OMIM:155600 updated melanoma, cutaneous malignant OMIMPS:155600 OMIM MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym CMM2 OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:155601 updated CMM2 OMIM:155601 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0007968 melanoma tumor antigen Gp90 oio:hasExactSynonym oio:hasRelatedSynonym Class 1 unique tumor antigen of melanoma Class 1 unique tumor antigen of melanoma class 1 unique tumor antigen of melanoma OMIM:155770 melanoma tumor antigen gp90 OMIM:155770 updated Class 1 unique tumor antigen of melanoma OMIM:155770 OMIM MONDO:0007969 Melkersson-Rosenthal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Melkersson syndrome Melkersson syndrome melkersson syndrome OMIM:155900 melkersson-rosenthal syndrome OMIM:155900 updated Melkersson syndrome OMIM:155900 OMIM @@ -78476,7 +76056,6 @@ MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym biman MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/Or agenesis of the corpus callosum mirror movements 1 and/or agenesis of the corpus callosum OMIM:157600 mirror movements 1 OMIM:157600 updated mirror movements 1 and/Or agenesis of the corpus callosum OMIM:157600 OMIM MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym mirror movements, congenital OMIM:157600 mirror movements 1 OMIM:157600 updated mirror movements, congenital OMIM:157600 OMIM MONDO:0008002 mirror movements 1 oio:hasExactSynonym oio:hasRelatedSynonym MRMV1 OMIM:157600 mirror movements 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157600, MONDO:Lexical updated MRMV1 OMIM:157600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008004 familial mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym mitral valve prolapse, familial OMIM:157700 mitral valve prolapse 1 MONDO:Lexical, OMIM:157700 updated mitral valve prolapse, familial OMIM:157700 OMIM MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 cardiospondylocarpofacial syndrome OMIM:157800 updated mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones OMIM:157800 OMIM MONDO:0008005 cardiospondylocarpofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSCF OMIM:157800 cardiospondylocarpofacial syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:157800 updated CSCF OMIM:157800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis OMIM:157950 permanent molars, secondary retention of OMIM:157950 updated dental ankylosis OMIM:157950 OMIM @@ -78509,14 +76088,11 @@ MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atroph MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant MONDO:Lexical, OMIM:158600 updated spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant OMIM:158600 OMIM MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 updated spinal muscular atrophy, childhood, proximal, autosomal dominant OMIM:158600 OMIM MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant OMIM:158600 updated spinal muscular atrophy, juvenile, proximal, autosomal dominant OMIM:158600 OMIM -MONDO:0008029 Bethlem myopathy oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810, MONDO:Lexical updated Bethlem myopathy 1 OMIM:158810 OMIM MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy landouzy-dejerine muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 GARD:0009941, OMIM:158900, MESH:C536391 updated Landouzy-Dejerine muscular dystrophy OMIM:158900 OMIM MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900 updated facioscapulohumeral muscular dystrophy OMIM:158900 OMIM MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 OMIM:158900, MESH:C536391 updated muscular dystrophy, facioscapulohumeral, type 1 OMIM:158900 OMIM MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasNarrowSynonym muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1A muscular dystrophy, facioscapulohumeral, type 1a OMIM:158900 facioscapulohumeral muscular dystrophy 1 MESH:C536391, OMIM:158900, GARD:0009941 updated muscular dystrophy, facioscapulohumeral, type 1A OMIM:158900 OMIM MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym FSHD1 OMIM:158900 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391, MONDO:Lexical, OMIM:158900 updated FSHD1 OMIM:158900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536391 updated FMD OMIM:305620 OMIM -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 oio:hasExactSynonym oio:hasBroadSynonym facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy OMIMPS:158900 Facioscapulohumeral muscular dystrophy MESH:C536391, OMIM:158900 updated facioscapulohumeral muscular dystrophy OMIMPS:158900 OMIM MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Fshd2, digenic Fshd2, digenic fshd2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 updated Fshd2, digenic OMIM:158901 OMIM MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 updated facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 OMIM MONDO:0008031 facioscapulohumeral muscular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 1b OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic OMIM:158901 updated muscular dystrophy, facioscapulohumeral, type 1B OMIM:158901 OMIM @@ -78548,8 +76124,6 @@ MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym E MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 1 OMIM:160500 myopathy, distal, 1 OMIM:160500, MONDO:Lexical updated myopathy, distal, 1 OMIM:160500 OMIM MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, early-onset, autosomal dominant OMIM:160500 myopathy, distal, 1 OMIM:160500 updated myopathy, distal, early-onset, autosomal dominant OMIM:160500 OMIM MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, late distal hereditary OMIM:160500 myopathy, distal, 1 OMIM:160500 updated myopathy, late distal hereditary OMIM:160500 OMIM -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate, 1 OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565, MONDO:Lexical updated myopathy, tubular aggregate, 1 OMIM:160565 OMIM -MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565, MONDO:Lexical updated TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym dystrophia myotonica 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900 updated dystrophia myotonica 1 OMIM:160900 OMIM MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym myotonic dystrophy 1 OMIM:160900 myotonic dystrophy 1 OMIM:160900, MONDO:Lexical updated myotonic dystrophy 1 OMIM:160900 OMIM MONDO:0008057 Carney complex, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Carney Myxoma-endocrine Complex Carney Myxoma-endocrine Complex carney myxoma-endocrine complex OMIM:160980 carney complex, type 1 OMIM:160980 updated Carney Myxoma-endocrine Complex OMIM:160980 OMIM @@ -78588,7 +76162,6 @@ MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasR MONDO:0008072 IgA nephropathy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephritis, IgA type nephritis, IgA type nephritis, iga type OMIM:161950 iga nephropathy, susceptibility to, 1 OMIM:161950 updated nephritis, IgA type OMIM:161950 OMIM MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasBroadSynonym gouty nephropathy, familial juvenile OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:162000 updated gouty nephropathy, familial juvenile OMIM:162000 OMIM MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease 2, autosomal dominant OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 OMIM:603860 updated medullary cystic kidney disease 2, autosomal dominant OMIM:162000 OMIM -MONDO:0008075 schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 updated neurilemmomatosis, congenital cutaneous OMIM:162091 OMIM MONDO:0008076 amyotrophic neuralgia oio:hasExactSynonym oio:hasRelatedSynonym HNA OMIM:162100 amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:162100 updated HNA OMIM:162100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008078 neurofibromatosis, familial spinal oio:hasExactSynonym oio:hasRelatedSynonym Fsnf Fsnf fsnf OMIM:162210 neurofibromatosis, familial spinal OMIM:162210 updated Fsnf OMIM:162210 OMIM MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome oio:hasExactSynonym oio:hasRelatedSynonym Npdc syndrome Npdc syndrome npdc syndrome OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome OMIM:162240 updated Npdc syndrome OMIM:162240 OMIM @@ -78653,8 +76226,6 @@ MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Male T MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome Noonan syndrome noonan syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 updated Noonan syndrome OMIM:163950 OMIM MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turner phenotype with normal karyotype Turner phenotype with normal karyotype turner phenotype with normal karyotype OMIM:163950 noonan syndrome 1 OMIM:163950 updated Turner phenotype with normal karyotype OMIM:163950 OMIM MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym female pseudo-Turner syndrome female pseudo-Turner syndrome female pseudo-turner syndrome OMIM:163950 noonan syndrome 1 OMIM:163950 updated female pseudo-Turner syndrome OMIM:163950 OMIM -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pterygium colli syndrome OMIM:265000 multiple pterygium syndrome, escobar variant OMIM:163950 updated pterygium colli syndrome OMIM:265000 OMIM -MONDO:0008104 Noonan syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome OMIMPS:163950 Noonan syndrome OMIM:163950 updated Noonan syndrome OMIMPS:163950 OMIM MONDO:0008105 nose, anomalous shape of oio:hasExactSynonym oio:hasRelatedSynonym potato Nose potato Nose potato nose OMIM:164000 nose, anomalous shape of OMIM:164000 updated potato Nose OMIM:164000 OMIM MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 2, congenital, autosomal dominant NYSTAGMUS 2, congenital, autosomal dominant nystagmus 2, congenital, autosomal dominant OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100, MONDO:Lexical updated NYSTAGMUS 2, congenital, autosomal dominant OMIM:164100 OMIM MONDO:0008106 nystagmus 2, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Nystagmus, congenital motor, 2 Nystagmus, congenital motor, 2 nystagmus, congenital motor, 2 OMIM:164100 nystagmus 2, congenital, autosomal dominant OMIM:164100 updated Nystagmus, congenital motor, 2 OMIM:164100 OMIM @@ -78673,7 +76244,6 @@ MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 updated microcephaly-oculo-digito-esophageal-duodenal syndrome OMIM:164280 OMIM MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym oculodigitoesophagoduodenal syndrome OMIM:164280 feingold syndrome 1 OMIM:164280 updated oculodigitoesophagoduodenal syndrome OMIM:164280 OMIM MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 feingold syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:164280 updated microcephaly, mental retardation, and tracheoesophageal fistula syndrome OMIM:164280 OMIM -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome OMIMPS:164280 Feingold syndrome OMIM:164280 updated Feingold syndrome OMIMPS:164280 OMIM MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym odontoma-dysphagia syndrome OMIM:164330 odontoma-dysphagia syndrome OMIM:164330 updated odontoma-dysphagia syndrome OMIM:164330 OMIM MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Menzel type OPCA Menzel type OPCA menzel type opca OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 updated Menzel type OPCA OMIM:164400 OMIM MONDO:0008119 spinocerebellar ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym OPCA 1 OPCA 1 opca 1 OMIM:164400 spinocerebellar ataxia 1 OMIM:164400 updated OPCA 1 OMIM:164400 OMIM @@ -78750,7 +76320,6 @@ MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 buschke-ollendorff syndrome OMIM:166700 updated dermatofibrosis, disseminated, with osteopoikilosis OMIM:166700 OMIM MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopathia condensans disseminata OMIM:166700 buschke-ollendorff syndrome OMIM:166700 updated osteopathia condensans disseminata OMIM:166700 OMIM MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOS Bos BOS OMIM:166700 buschke-ollendorff syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166700, MONDO:Lexical updated BOS OMIM:166700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bos Bos bos OMIM:605039 bohring-opitz syndrome OMIM:166700, MONDO:Lexical updated Bos OMIM:605039 OMIM MONDO:0008158 dacryocystitis-osteopoikilosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopoikilosis and dacryocystitis OMIM:166705 osteopoikilosis and dacryocystitis OMIM:166705 updated osteopoikilosis and dacryocystitis OMIM:166705 OMIM MONDO:0008160 osteosclerosis with ichthyosis and fractures oio:hasExactSynonym oio:hasRelatedSynonym cortical thickening of long bones with bowing and ichthyosis OMIM:166740 osteosclerosis with ichthyosis and fractures OMIM:166740 updated cortical thickening of long bones with bowing and ichthyosis OMIM:166740 OMIM MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q13 deletion syndrome OMIM:166750 otodental dysplasia OMIM:166750 updated chromosome 11q13 deletion syndrome OMIM:166750 OMIM @@ -78800,7 +76369,6 @@ MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelated MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym HPC HPC hpc OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537262, OMIM:167800 updated HPC OMIM:167800 OMIM MONDO:0008185 hereditary chronic pancreatitis oio:hasExactSynonym oio:hasRelatedSynonym PCTT OMIM:167800 pancreatitis, hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:167800, MESH:C537262, MONDO:Lexical updated PCTT OMIM:167800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13Q-related panic disorder susceptibility locus, chromosome 13q-related OMIM:167870 panic disorder 1 OMIM:167870 updated panic disorder susceptibility locus, chromosome 13Q-related OMIM:167870 OMIM -MONDO:0008187 panic disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym panic disorder panic disorder Panic disorder OMIMPS:167870 Panic disorder OMIM:167870 updated panic disorder OMIMPS:167870 OMIM MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, familial cutaneous OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 updated papillomatosis, familial cutaneous OMIM:167900 OMIM MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, reticulated and confluent, of gougerot and carteaud OMIM:167900 papillomatosis, confluent and reticulated OMIM:167900 updated papillomatosis, reticulated and confluent, of Gougerot and Carteaud OMIM:167900 OMIM MONDO:0008188 papillomatosis, confluent and reticulated oio:hasExactSynonym oio:hasRelatedSynonym CARP carp CARP OMIM:167900 papillomatosis, confluent and reticulated http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:167900 updated CARP OMIM:167900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -78824,7 +76392,6 @@ MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym fora MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina, symmetric OMIM:168500 parietal foramina 1 OMIM:168500 updated parietal foramina, symmetric OMIM:168500 OMIM MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM PFM pfm OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:168500 updated PFM OMIM:168500 OMIM MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym PFM1 OMIM:168500 parietal foramina 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168500 updated PFM1 OMIM:168500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008197 parietal foramina 1 oio:hasExactSynonym oio:hasRelatedSynonym parietal foramina parietal foramina Parietal foramina OMIMPS:168500 Parietal foramina MONDO:Lexical, OMIM:168500 updated parietal foramina OMIMPS:168500 OMIM MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym cleidocranial dysplasia with parietal foramina OMIM:168550 parietal foramina with cleidocranial dysplasia OMIM:168550 updated cleidocranial dysplasia with parietal foramina OMIM:168550 OMIM MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym oio:hasRelatedSynonym PFMCCD OMIM:168550 parietal foramina with cleidocranial dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:168550, MONDO:Lexical updated PFMCCD OMIM:168550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008200 autosomal dominant Parkinson disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 1, autosomal dominant Parkinson disease 1, autosomal dominant parkinson disease 1, autosomal dominant OMIM:168601 parkinson disease 1, autosomal dominant OMIM:168601, MONDO:Lexical updated Parkinson disease 1, autosomal dominant OMIM:168601 OMIM @@ -78849,15 +76416,11 @@ MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:ha MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, ADULT-onset, autosomal dominant leukodystrophy, demyelinating, adult-onset, autosomal dominant OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:Lexical, OMIM:169500 updated leukodystrophy, demyelinating, ADULT-onset, autosomal dominant OMIM:169500 OMIM MONDO:0008219 pemphigus vulgaris oio:hasExactSynonym oio:hasRelatedSynonym pemphigus vulgaris, familial OMIM:169610 pemphigus vulgaris, familial OMIM:169610 updated pemphigus vulgaris, familial OMIM:169610 OMIM MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasRelatedSynonym periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, Potassium-sensitive cardiodysrhythmic type periodic paralysis, potassium-sensitive cardiodysrhythmic type OMIM:170390 andersen cardiodysrhythmic periodic paralysis OMIM:170390 updated periodic paralysis, Potassium-sensitive cardiodysrhythmic type OMIM:170390 OMIM -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 updated ATS OMIM:208050 OMIM -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 updated ATS OMIM:301050 OMIM -MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym sodium channel muscle disease OMIM:608390 myotonia, potassium-aggravated GARD:0000195 updated sodium channel muscle disease OMIM:608390 OMIM MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, aggressive, 1 OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 updated periodontitis, aggressive, 1 OMIM:170650 OMIM MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, juvenile OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 updated periodontitis, juvenile OMIM:170650 OMIM MONDO:0008226 periodontitis, aggressive 1 oio:hasExactSynonym oio:hasRelatedSynonym periodontitis, prepubertal OMIM:170650 periodontitis, aggressive, 1 OMIM:170650 updated periodontitis, prepubertal OMIM:170650 OMIM MONDO:0008230 peroxidase, salivary oio:hasExactSynonym oio:hasRelatedSynonym SAPX OMIM:170990 peroxidase, salivary http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:170990 updated SAPX OMIM:170990 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008233 pheochromocytoma oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma, susceptibility to OMIM:171300 pheochromocytoma OMIM:171300 updated pheochromocytoma, susceptibility to OMIM:171300 OMIM -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym thyroid carcinoma, familial medullary OMIM:155240 thyroid carcinoma, familial medullary OMIM:171400 updated thyroid carcinoma, familial medullary OMIM:155240 OMIM MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type 2a OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 updated multiple endocrine neoplasia, type 2A OMIM:171400 OMIM MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym oio:hasRelatedSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 multiple endocrine neoplasia, type 2a OMIM:171400 updated pheochromocytoma and amyloid-producing medullary thyroid carcinoma OMIM:171400 OMIM MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oio:hasExactSynonym oio:hasRelatedSynonym facioauriculoradial dysplasia OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia OMIM:171480 updated facioauriculoradial dysplasia OMIM:171480 OMIM @@ -78886,7 +76449,6 @@ MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroad MONDO:0008256 platelet membrane fluidity oio:hasExactSynonym oio:hasRelatedSynonym PMF OMIM:173560 platelet membrane fluidity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173560, MONDO:Lexical updated PMF OMIM:173560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym pneumothorax, primary spontaneous OMIM:173600 pneumothorax, primary spontaneous OMIM:173600 updated pneumothorax, primary spontaneous OMIM:173600 OMIM MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym PSP Psp PSP OMIM:173600 pneumothorax, primary spontaneous http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:173600 updated PSP OMIM:173600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008259 familial spontaneous pneumothorax oio:hasExactSynonym oio:hasRelatedSynonym Psp Psp psp OMIM:601104 supranuclear palsy, progressive, 1 OMIM:173600 updated Psp OMIM:601104 OMIM MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome kindler syndrome OMIM:173650 kindler syndrome OMIM:173650 updated KINDLER syndrome OMIM:173650 OMIM MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of Kindler and Weary bullous acrokeratotic poikiloderma of kindler and weary OMIM:173650 kindler syndrome OMIM:173650 updated bullous acrokeratotic poikiloderma of Kindler and Weary OMIM:173650 OMIM MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, Weary type poikiloderma, congenital, with bullae, weary type OMIM:173650 kindler syndrome OMIM:173650 updated poikiloderma, congenital, with bullae, Weary type OMIM:173650 OMIM @@ -78898,11 +76460,9 @@ MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 updated polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 OMIM MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 updated polycystic kidney disease, adult OMIM:173900 OMIM MONDO:0008263 polycystic kidney disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, adult, type 1 OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease OMIM:173900 updated polycystic kidney disease, adult, type 1 OMIM:173900 OMIM -MONDO:0008265 polycystic liver disease 1 oio:hasExactSynonym oio:hasRelatedSynonym polycystic liver disease polycystic liver disease Polycystic liver disease OMIMPS:174050 Polycystic liver disease MONDO:Lexical, OMIM:174050 updated polycystic liver disease OMIMPS:174050 OMIM MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 updated polydactyly, postaxial OMIM:174200 OMIM MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A postaxial polydactyly, type A postaxial polydactyly, type a OMIM:174200 polydactyly, postaxial, type a1 OMIM:174200 updated postaxial polydactyly, type A OMIM:174200 OMIM MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym PAPA1 OMIM:174200 polydactyly, postaxial, type a1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174200, MONDO:Lexical updated PAPA1 OMIM:174200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008266 polydactyly, postaxial, type A1 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, postaxial polydactyly, postaxial Polydactyly, postaxial OMIMPS:174200 Polydactyly, postaxial OMIM:174200 updated polydactyly, postaxial OMIMPS:174200 OMIM MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym Ofds 5 Ofds 5 ofds 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 updated Ofds 5 OMIM:174300 OMIM MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 5 oral-Facial-digital syndrome, type 5 oral-facial-digital syndrome, type 5 OMIM:174300 orofaciodigital syndrome 5 OMIM:174300 updated oral-Facial-digital syndrome, type 5 OMIM:174300 OMIM MONDO:0008267 orofaciodigital syndrome V oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 5 OMIM:174300 orofaciodigital syndrome 5 GARD:0004120 updated orofaciodigital syndrome 5 OMIM:174300 OMIM @@ -78912,9 +76472,6 @@ MONDO:0008269 polydactyly of a biphalangeal thumb oio:hasExactSynonym oio:hasRel MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly of triphalangeal thumb OMIM:174500 polydactyly, preaxial 2 OMIM:174500 updated polydactyly of triphalangeal thumb OMIM:174500 OMIM MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 2 OMIM:174500 polydactyly, preaxial 2 OMIM:174500 updated polydactyly, preaxial 2 OMIM:174500 OMIM MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polydactyly syndrome OMIM:174500 polydactyly, preaxial 2 OMIM:174500 updated triphalangeal thumb-polydactyly syndrome OMIM:174500 OMIM -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym TPT-PS syndrome TPT-PS syndrome tpt-ps syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 updated TPT-PS syndrome OMIM:190605 OMIM -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb with polysyndactyly OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 updated triphalangeal thumb with polysyndactyly OMIM:190605 OMIM -MONDO:0008270 polydactyly of a triphalangeal thumb oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumb-polysyndactyly syndrome OMIM:190605 triphalangeal thumb with polysyndactyly OMIM:174500 updated triphalangeal thumb-polysyndactyly syndrome OMIM:190605 OMIM MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym index finger polydactyly OMIM:174600 polydactyly, preaxial 3 OMIM:174600 updated index finger polydactyly OMIM:174600 OMIM MONDO:0008271 polydactyly of an index finger oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 3 OMIM:174600 polydactyly, preaxial 3 OMIM:174600 updated polydactyly, preaxial 3 OMIM:174600 OMIM MONDO:0008272 polysyndactyly 4 oio:hasExactSynonym oio:hasRelatedSynonym polydactyly, preaxial 4 OMIM:174700 polydactyly, preaxial 4 OMIM:174700 updated polydactyly, preaxial 4 OMIM:174700 OMIM @@ -78970,7 +76527,6 @@ MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym PPOX MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata OMIM:176200 variegate porphyria OMIM:176200 updated porphyria variegata OMIM:176200 OMIM MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria, South African type porphyria, South African type porphyria, south african type OMIM:176200 variegate porphyria OMIM:176200 updated porphyria, South African type OMIM:176200 OMIM MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym VP OMIM:176200 variegate porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007848 updated VP OMIM:176200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym variegate porphyria, homozygous variant OMIM:620483 variegate porphyria, childhood-onset OMIM:176200 updated variegate porphyria, homozygous variant OMIM:620483 OMIM MONDO:0008298 postaxial tetramelic oligodactyly oio:hasExactSynonym oio:hasRelatedSynonym postaxial oligodactyly, tetramelic OMIM:176240 postaxial oligodactyly, tetramelic OMIM:176240 updated postaxial oligodactyly, tetramelic OMIM:176240 OMIM MONDO:0008299 posterior column ataxia oio:hasExactSynonym oio:hasRelatedSynonym Biemond ataxia Biemond ataxia biemond ataxia OMIM:176250 posterior column ataxia OMIM:176250 updated Biemond ataxia OMIM:176250 OMIM MONDO:0008300 Prader-Willi syndrome oio:hasExactSynonym oio:hasRelatedSynonym PWS OMIM:176270 prader-willi syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176270, MONDO:Lexical updated PWS OMIM:176270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -78984,7 +76540,6 @@ MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARIN MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, ITM2B-RELATED, 1 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 updated cerebral amyloid angiopathy, ITM2B-RELATED, 1 OMIM:176500 OMIM MONDO:0008306 ABri amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym dementia, familial British dementia, familial British dementia, familial british OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 OMIM:176500 updated dementia, familial British OMIM:176500 OMIM MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria OMIM:176670 hutchinson-gilford progeria syndrome OMIM:176670, Orphanet:740 updated progeria OMIM:176670 OMIM -MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria OMIMPS:176670 Progeria OMIM:176670, Orphanet:740 updated progeria OMIMPS:176670 OMIM MONDO:0008311 progeria-short stature-pigmented nevi syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid short stature with pigmented nevi OMIM:176690 progeroid short stature with pigmented nevi OMIM:176690 updated progeroid short stature with pigmented nevi OMIM:176690 OMIM MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Habsburg jaw' 'Habsburg jaw' 'habsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 updated 'Habsburg jaw' OMIM:176700 OMIM MONDO:0008312 autosomal dominant prognathism oio:hasExactSynonym oio:hasRelatedSynonym 'Hapsburg jaw' 'Hapsburg jaw' 'hapsburg jaw' OMIM:176700 prognathism, mandibular OMIM:176700 updated 'Hapsburg jaw' OMIM:176700 OMIM @@ -78999,7 +76554,6 @@ MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant oio: MONDO:0008318 Proteus syndrome oio:hasExactSynonym oio:hasRelatedSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 proteus syndrome OMIM:176920, MESH:C537716, GARD:0000170 updated gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 OMIM MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrohepatic protoporphyria OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, GARD:0004527 updated erythrohepatic protoporphyria OMIM:177000 OMIM MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic OMIM:177000 protoporphyria, erythropoietic, 1 OMIM:177000, MONDO:Lexical updated protoporphyria, erythropoietic OMIM:177000 OMIM -MONDO:0008319 protoporphyria, erythropoietic, 1 oio:hasExactSynonym oio:hasBroadSynonym protoporphyria, erythropoietic protoporphyria, erythropoietic Protoporphyria, erythropoietic OMIMPS:177000 Protoporphyria, erythropoietic OMIM:177000, MONDO:Lexical updated protoporphyria, erythropoietic OMIMPS:177000 OMIM MONDO:0008320 Protrusio acetabuli oio:hasExactSynonym oio:hasRelatedSynonym PROTRUSIO acetabuli PROTRUSIO acetabuli protrusio acetabuli OMIM:177050 protrusio acetabuli OMIM:177050 updated PROTRUSIO acetabuli OMIM:177050 OMIM MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia, pseudoachondroplastic OMIM:177170 pseudoachondroplasia OMIM:177170 updated spondyloepiphyseal dysplasia, Pseudoachondroplastic OMIM:177170 OMIM MONDO:0008322 pseudoachondroplasia oio:hasExactSynonym oio:hasRelatedSynonym PSACH OMIM:177170 pseudoachondroplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:177170 updated PSACH OMIM:177170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -79026,7 +76580,6 @@ MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiog MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP OMIM:178995 pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 updated PUPPP OMIM:178995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 updated pyloric stenosis, infantile OMIM:179010 OMIM MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 OMIM:179010 updated pyloric stenosis, infantile hypertrophic OMIM:179010 OMIM -MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 oio:hasExactSynonym oio:hasRelatedSynonym pyloric stenosis, infantile hypertrophic pyloric stenosis, infantile hypertrophic Pyloric stenosis, infantile hypertrophic OMIMPS:179010 Pyloric stenosis, infantile hypertrophic OMIM:179010 updated pyloric stenosis, infantile hypertrophic OMIMPS:179010 OMIM MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial RAY hypoplasia with choanal atresia radial RAY hypoplasia with choanal atresia radial ray hypoplasia with choanal atresia OMIM:179270 radial ray hypoplasia with choanal atresia OMIM:179270 updated radial RAY hypoplasia with choanal atresia OMIM:179270 OMIM MONDO:0008359 radio-renal syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial-renal syndrome OMIM:179280 radial-renal syndrome OMIM:179280 updated radial-renal syndrome OMIM:179280 OMIM MONDO:0008364 Raynaud disease oio:hasExactSynonym oio:hasRelatedSynonym cold fingers, hereditary OMIM:179600 raynaud disease OMIM:179600 updated cold fingers, hereditary OMIM:179600 OMIM @@ -79051,12 +76604,8 @@ MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone Degeneration retinal cone Degeneration retinal cone degeneration OMIM:180020 retinal cone dystrophy 1 OMIM:180020 updated retinal cone Degeneration OMIM:180020 OMIM MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal cone dystrophy 1 OMIM:180020 retinal cone dystrophy 1 MONDO:Lexical, OMIM:180020 updated retinal cone dystrophy 1 OMIM:180020 OMIM MONDO:0008374 retinal cone dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCD1 OMIM:180020 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:180020 updated RCD1 OMIM:180020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa OMIM:268000 retinitis pigmentosa MONDO:Lexical, OMIM:268000 updated retinitis pigmentosa OMIM:268000 OMIM -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym RP OMIM:268000 retinitis pigmentosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268000, MONDO:Lexical updated RP OMIM:268000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008377 retinitis pigmentosa 1 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa retinitis pigmentosa Retinitis pigmentosa OMIMPS:268000 Retinitis pigmentosa MONDO:Lexical, OMIM:268000 updated retinitis pigmentosa OMIMPS:268000 OMIM MONDO:0008381 dominant pericentral pigmentary retinopathy oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, pericentral pigmentary, dominant OMIM:180210 retinopathy, pericentral pigmentary, dominant OMIM:180210 updated retinopathy, pericentral pigmentary, dominant OMIM:180210 OMIM MONDO:0008383 rheumatoid arthritis oio:hasExactSynonym oio:hasRelatedSynonym rheumatoid arthritis, susceptibility to OMIM:180300 rheumatoid arthritis OMIM:180300 updated rheumatoid arthritis, susceptibility to OMIM:180300 OMIM -MONDO:0008385 rhiny oio:hasExactSynonym oio:hasRelatedSynonym craniorhiny OMIM:123050 craniorhiny OMIM:180360 updated craniorhiny OMIM:123050 OMIM MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 1 Axenfeld-Rieger syndrome, type 1 axenfeld-rieger syndrome, type 1 OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500, MONDO:Lexical updated Axenfeld-Rieger syndrome, type 1 OMIM:180500 OMIM MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rgs Rgs rgs OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 updated Rgs OMIM:180500 OMIM MONDO:0008386 Axenfeld-Rieger syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rieg Rieg rieg OMIM:180500 axenfeld-rieger syndrome, type 1 OMIM:180500 updated Rieg OMIM:180500 OMIM @@ -79113,7 +76662,6 @@ MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome shprintzen-goldberg craniosynostosis syndrome OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212, MONDO:Lexical updated Shprintzen-Goldberg craniosynostosis syndrome OMIM:182212 OMIM MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 shprintzen-goldberg craniosynostosis syndrome OMIM:182212 updated craniosynostosis with arachnodactyly and abdominal hernias OMIM:182212 OMIM MONDO:0008427 sister chromatid exchange, frequency of oio:hasExactSynonym oio:hasRelatedSynonym SCE, frequency of SCE, frequency of sce, frequency of OMIM:182220 sister chromatid exchange, frequency of OMIM:182220 updated SCE, frequency of OMIM:182220 OMIM -MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym oio:hasRelatedSynonym SGMRT1 OMIM:182250 singleton-merten syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182250, MONDO:Lexical updated SGMRT1 OMIM:182250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell cancer of the lung OMIM:182280 small cell cancer of the lung OMIM:182280 updated small cell cancer of the lung OMIM:182280 OMIM MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasBroadSynonym SCLC SCLC sclc OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C4917, DOID:5409, OMIM:182280, Orphanet:70573 updated SCLC OMIM:182280 OMIM MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym oio:hasRelatedSynonym SCLC1 SCLC1 sclc1 OMIM:182280 small cell cancer of the lung http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182280 updated SCLC1 OMIM:182280 OMIM @@ -79151,7 +76699,6 @@ MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090, MONDO:Lexical updated spinocerebellar ataxia 2 OMIM:183090 OMIM MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, Cuban type spinocerebellar ataxia, Cuban type spinocerebellar ataxia, cuban type OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 updated spinocerebellar ataxia, Cuban type OMIM:183090 OMIM MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar atrophy 2 OMIM:183090 spinocerebellar ataxia 2 OMIM:183090 updated spinocerebellar atrophy 2 OMIM:183090 OMIM -MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar Degeneration with slow eye movements spinocerebellar Degeneration with slow eye movements spinocerebellar degeneration with slow eye movements OMIM:271322 spinocerebellar degeneration with slow eye movements OMIM:183090 updated spinocerebellar Degeneration with slow eye movements OMIM:271322 OMIM MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome sgfld syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 updated Sgfld syndrome OMIM:183300 OMIM MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion limb defect syndrome OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 updated splenogonadal fusion limb defect syndrome OMIM:183300 OMIM MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym splenogonadal fusion with limb defects and micrognathia OMIM:183300 splenogonadal fusion with limb defects and micrognathia OMIM:183300 updated splenogonadal fusion with limb defects and micrognathia OMIM:183300 OMIM @@ -79178,7 +76725,6 @@ MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynon MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, strudwick type OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 updated spondylometaepiphyseal dysplasia congenita, Strudwick type OMIM:184250 OMIM MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type OMIM:184250 updated spondylometaphyseal dysplasia OMIM:184250 OMIM MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym SEMDSTWK OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:184250 updated SEMDSTWK OMIM:184250 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia OMIMPS:184255 Spondylometaphyseal dysplasia OMIM:184250 updated spondylometaphyseal dysplasia OMIMPS:184255 OMIM MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SmD, Kozlowski type SmD, Kozlowski type smd, kozlowski type OMIM:184252 spondylometaphyseal dysplasia, kozlowski type OMIM:184252 updated SmD, Kozlowski type OMIM:184252 OMIM MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type oio:hasExactSynonym oio:hasRelatedSynonym SMDK OMIM:184252 spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184252, MONDO:Lexical updated SMDK OMIM:184252 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia, corner fracture type OMIM:184255 spondylometaphyseal dysplasia, corner fracture type OMIM:184255 updated spondylometaphyseal dysplasia, corner fracture type OMIM:184255 OMIM @@ -79194,7 +76740,6 @@ MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasRelatedSynony MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym polycystic ovary syndrome 1 OMIM:184700 polycystic ovary syndrome 1 OMIM:genemap2, MONDO:Lexical, OMIM:184700 updated polycystic ovary syndrome 1 OMIM:184700 OMIM MONDO:0008487 polycystic ovary syndrome oio:hasExactSynonym oio:hasNarrowSynonym PCOS1 OMIM:184700 polycystic ovary syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:184700, MONDO:Lexical updated PCOS1 OMIM:184700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome steinfeld syndrome OMIM:184705 steinfeld syndrome OMIM:184705 updated STEINFELD syndrome OMIM:184705 OMIM -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS OMIM:182290 smith-magenis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 updated SMS OMIM:182290 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome stiff-person syndrome OMIM:184850 stiff-person syndrome OMIM:184850 updated STIFF-PERSON syndrome OMIM:184850 OMIM MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-Man syndrome Stiff-Man syndrome stiff-man syndrome OMIM:184850 stiff-person syndrome OMIM:184850 updated Stiff-Man syndrome OMIM:184850 OMIM MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stiff-trunk syndrome Stiff-trunk syndrome stiff-trunk syndrome OMIM:184850 stiff-person syndrome OMIM:184850 updated Stiff-trunk syndrome OMIM:184850 OMIM @@ -79205,8 +76750,6 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym Potassium-sodium disorder of erythrocyte Potassium-sodium disorder of erythrocyte potassium-sodium disorder of erythrocyte OMIM:185000 overhydrated hereditary stomatocytosis OMIM:185000 updated Potassium-sodium disorder of erythrocyte OMIM:185000 OMIM MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical updated OHS OMIM:185000 OMIM MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHST OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000 updated OHST OMIM:185000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OHS OMIM:304150 occipital horn syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:185000, MONDO:Lexical updated OHS OMIM:304150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008494 cryohydrocytosis oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Cardiff pseudohyperkalemia Cardiff pseudohyperkalemia cardiff OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:185020 updated pseudohyperkalemia Cardiff OMIM:609153 OMIM MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym storage pool platelet disease OMIM:185050 storage pool platelet disease OMIM:185050 updated storage pool platelet disease OMIM:185050 OMIM MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Thrombocytopathy, asplenia, and miosis Thrombocytopathy, asplenia, and miosis thrombocytopathy, asplenia, and miosis OMIM:185070 stormorken syndrome OMIM:185070 updated Thrombocytopathy, asplenia, and miosis OMIM:185070 OMIM MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym york Platelet syndrome york Platelet syndrome york platelet syndrome OMIM:185070 stormorken syndrome OMIM:185070 updated york Platelet syndrome OMIM:185070 OMIM @@ -79221,7 +76764,6 @@ MONDO:0008507 surface polypeptides, anonymous oio:hasExactSynonym oio:hasRelated MONDO:0008508 symphalangism, C. S. Lewis type oio:hasExactSynonym oio:hasRelatedSynonym thumbs, stiff OMIM:185650 symphalangism, c. s. lewis type OMIM:185650 updated thumbs, stiff OMIM:185650 OMIM MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym Sym2 Sym2 sym2 OMIM:185700 symphalangism, distal OMIM:185700 updated Sym2 OMIM:185700 OMIM MONDO:0008509 distal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym symphalangism, distal OMIM:185700 symphalangism, distal OMIM:185700 updated symphalangism, distal OMIM:185700 OMIM -MONDO:0008511 proximal symphalangism oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 updated hereditary absence of the proximal interphalangeal joints OMIM:185800 OMIM MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sd1 Sd1 sd1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 updated Sd1 OMIM:185900 OMIM MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 2q35 DUPLICATION syndrome chromosome 2q35 DUPLICATION syndrome chromosome 2q35 duplication syndrome OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 updated chromosome 2q35 DUPLICATION syndrome OMIM:185900 OMIM MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym syndactyly, type 1 OMIM:185900 chromosome 2q35 duplication syndrome OMIM:185900 updated syndactyly, type 1 OMIM:185900 OMIM @@ -79306,8 +76848,6 @@ MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome oio MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:188400 updated chromosome 22Q11.2 deletion syndrome OMIM:188400 OMIM MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplasia of thymus and parathyroids OMIM:188400 digeorge syndrome OMIM:188400 updated hypoplasia of thymus and parathyroids OMIM:188400 OMIM MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym third and fourth pharyngeal pouch syndrome OMIM:188400 digeorge syndrome OMIM:188400 updated third and fourth pharyngeal pouch syndrome OMIM:188400 OMIM -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:188400 updated chromosome 22Q11.2 deletion syndrome OMIM:192430 OMIM -MONDO:0008564 DiGeorge syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome OMIM:192430 velocardiofacial syndrome NCIT:C2989 updated velocardiofacial syndrome OMIM:192430 OMIM MONDO:0008565 familial thyroglossal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym thyroglossal duct cyst, familial OMIM:188455 thyroglossal duct cyst, familial OMIM:188455 updated thyroglossal duct cyst, familial OMIM:188455 OMIM MONDO:0008566 thyroid cancer, nonmedullary, 2 oio:hasExactSynonym oio:hasRelatedSynonym NMTC2 OMIM:188470 thyroid cancer, nonmedullary, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:188470 updated NMTC2 OMIM:188470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial nonmedullary thyroid cancer, papillary OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:188550 updated familial nonmedullary thyroid cancer, papillary OMIM:188550 OMIM @@ -79317,8 +76857,6 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 oio:hasExactSynonym oio:hasRelated MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 updated Gthr OMIM:188570 OMIM MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 updated hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones OMIM:188570 OMIM MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:188570 updated thyroid hormone unresponsiveness OMIM:188570 OMIM -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 updated Gthr OMIM:274300 OMIM -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:188570 updated thyroid hormone unresponsiveness OMIM:274300 OMIM MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym TTPP1 OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:188580, MONDO:Lexical updated TTPP1 OMIM:188580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym Osteochondrosis deformans tibiae, infantile Osteochondrosis deformans tibiae, infantile osteochondrosis deformans tibiae, infantile OMIM:188700 blount disease, infantile OMIM:188700 updated Osteochondrosis deformans tibiae, infantile OMIM:188700 OMIM MONDO:0008571 Blount disease, infantile oio:hasExactSynonym oio:hasRelatedSynonym tibia vara, infantile OMIM:188700 blount disease, infantile OMIM:188700 updated tibia vara, infantile OMIM:188700 OMIM @@ -79346,7 +76884,6 @@ MONDO:0008598 trichodysplasia-xeroderma syndrome oio:hasExactSynonym oio:hasRela MONDO:0008599 trigeminal neuralgia oio:hasExactSynonym oio:hasRelatedSynonym Tic douloureux Tic douloureux tic douloureux OMIM:190400 trigeminal neuralgia OMIM:190400 updated Tic douloureux OMIM:190400 OMIM MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:190440 updated craniosynostosis, metopic OMIM:190440 OMIM MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO1 OMIM:190440 trigonocephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:190440, MONDO:Lexical updated TRIGNO1 OMIM:190440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008603 trigonocephaly 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:190440 updated craniosynostosis, metopic OMIM:614485 OMIM MONDO:0008606 Say-field-Coldwell syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs and dislocation of patella OMIM:190650 triphalangeal thumbs and dislocation of patella OMIM:190650 updated triphalangeal thumbs and dislocation of patella OMIM:190650 OMIM MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym triphalangeal thumbs with brachyectrodactyly OMIM:190680 triphalangeal thumbs with brachyectrodactyly OMIM:190680 updated triphalangeal thumbs with brachyectrodactyly OMIM:190680 OMIM MONDO:0008608 Down syndrome oio:hasExactSynonym oio:hasNarrowSynonym trisomy 21 OMIM:190685 down syndrome OMIM:190685, Orphanet:870, NCIT:C2993 updated trisomy 21 OMIM:190685 OMIM @@ -79377,7 +76914,6 @@ MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MU MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uda syndrome Uda syndrome uda syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 updated Uda syndrome OMIM:191900 OMIM MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym urticaria-deafness-amyloidosis syndrome OMIM:191900 muckle-wells syndrome OMIM:191900 updated urticaria-deafness-amyloidosis syndrome OMIM:191900 OMIM MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 updated MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS MWS mws OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:191900 updated MWS OMIM:248700 OMIM MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis OMIM:192050 updated uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis OMIM:192050 OMIM MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, bifid OMIM:192100 uvula, bifid OMIM:192100 updated uvula, bifid OMIM:192100 OMIM MONDO:0008637 bifid uvula oio:hasExactSynonym oio:hasRelatedSynonym uvula, cleft OMIM:192100 uvula, bifid OMIM:192100 updated uvula, cleft OMIM:192100 OMIM @@ -79385,7 +76921,6 @@ MONDO:0008638 varicose disease oio:hasExactSynonym oio:hasNarrowSynonym varicose MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym cerebroretinal vasculopathy, hereditary OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 updated cerebroretinal vasculopathy, hereditary OMIM:192315 OMIM MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations OMIM:192315, GARD:0001217 updated retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena OMIM:192315 OMIM MONDO:0008642 VACTERL/vater association oio:hasExactSynonym oio:hasRelatedSynonym VATER/VACTERL association VATER/VACTERL association vater/vacterl association OMIM:192350 vater/vacterl association OMIM:192350 updated VATER/VACTERL association OMIM:192350 OMIM -MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:188400 digeorge syndrome OMIM:192430 updated chromosome 22Q11.2 deletion syndrome OMIM:188400 OMIM MONDO:0008644 velocardiofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q11.2 deletion syndrome chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome OMIM:192430 velocardiofacial syndrome OMIM:192430 updated chromosome 22Q11.2 deletion syndrome OMIM:192430 OMIM MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome oio:hasExactSynonym oio:hasRelatedSynonym ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence OMIM:192445 updated ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence OMIM:192445 OMIM MONDO:0008647 hypertrophic cardiomyopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym Cmh Cmh cmh OMIM:192600 cardiomyopathy, familial hypertrophic, 1 OMIM:192600 updated Cmh OMIM:192600 OMIM @@ -79458,10 +76993,8 @@ MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperka MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to Red cell leak pseudohyperkalemia, familial, 1, due to red cell leak OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 updated pseudohyperkalemia, familial, 1, due to Red cell leak OMIM:194380 OMIM MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym xerocytosis, hereditary OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema OMIM:194380 updated xerocytosis, hereditary OMIM:194380 OMIM MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS1 OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380 updated DHS1 OMIM:194380 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema oio:hasExactSynonym oio:hasRelatedSynonym DHS DHS dhs OMIM:304350 deafness-hypogonadism syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:194380, MONDO:Lexical updated DHS OMIM:304350 OMIM MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym albumin binding of zinc, elevated OMIM:194470 zinc, elevated plasma OMIM:194470 updated albumin binding of zinc, elevated OMIM:194470 OMIM MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia, familial Dysalbuminemic hyperzincemia, familial Dysalbuminemic hyperzincemia, familial dysalbuminemic OMIM:194470 zinc, elevated plasma OMIM:194470 updated hyperzincemia, familial Dysalbuminemic OMIM:194470 OMIM -MONDO:0008691 zinc, elevated plasma oio:hasExactSynonym oio:hasRelatedSynonym hyperzincemia and hypercalprotectinemia OMIM:601979 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia OMIM:194470 updated hyperzincemia and hypercalprotectinemia OMIM:601979 OMIM MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym Bassen-Kornzweig syndrome Bassen-Kornzweig syndrome bassen-kornzweig syndrome OMIM:200100 abetalipoproteinemia OMIM:200100 updated Bassen-Kornzweig syndrome OMIM:200100 OMIM MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym MTP deficiency MTP deficiency mtp deficiency OMIM:200100 abetalipoproteinemia OMIM:200100 updated MTP deficiency OMIM:200100 OMIM MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym oio:hasRelatedSynonym acanthocytosis OMIM:200100 abetalipoproteinemia OMIM:200100 updated acanthocytosis OMIM:200100 OMIM @@ -79493,7 +77026,6 @@ MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelate MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome Carpenter syndrome carpenter syndrome OMIM:201000 carpenter syndrome 1 OMIM:genemap2, OMIM:201000 updated Carpenter syndrome OMIM:201000 OMIM MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym acrocephalopolysyndactyly type 2 OMIM:201000 carpenter syndrome 1 OMIM:201000 updated acrocephalopolysyndactyly type 2 OMIM:201000 OMIM MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRPT1 OMIM:201000 carpenter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201000 updated CRPT1 OMIM:201000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008710 RAB23-related Carpenter syndrome oio:hasExactSynonym oio:hasBroadSynonym Carpenter syndrome OMIMPS:201000 Carpenter syndrome OMIM:genemap2, OMIM:201000 updated Carpenter syndrome OMIMPS:201000 OMIM MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 acrodermatitis enteropathica, zinc-deficiency type MONDO:Lexical, OMIM:201100 updated acrodermatitis enteropathica, zinc-deficiency type OMIM:201100 OMIM MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym Rodriguez lethal acrofacial dysostosis syndrome Rodriguez lethal acrofacial dysostosis syndrome rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 updated Rodriguez lethal acrofacial dysostosis syndrome OMIM:201170 OMIM MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis syndrome of rodriguez OMIM:201170 acrofacial dysostosis syndrome of rodriguez OMIM:201170 updated acrofacial dysostosis syndrome of Rodriguez OMIM:201170 OMIM @@ -79571,14 +77103,12 @@ MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400, GARD:0005660 updated aldosterone deficiency 1 OMIM:203400 OMIM MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 updated hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 OMIM MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym steroid 18-hydroxylase deficiency OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:203400 updated steroid 18-hydroxylase deficiency OMIM:203400 OMIM -MONDO:0008751 corticosterone methyloxidase type 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:203400 updated hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600 OMIM MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym ALXDRD OMIM:203450 alexander disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203450 updated ALXDRD OMIM:203450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym AKU aku AKU OMIM:203500 alkaptonuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203500 updated AKU OMIM:203500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ACD mental retardation syndrome ACD mental retardation syndrome acd mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 updated ACD mental retardation syndrome OMIM:203550 OMIM MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:203550 updated alopecia-contractures-dwarfism mental retardation syndrome OMIM:203550 OMIM MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Moynahan alopecia syndrome Moynahan alopecia syndrome moynahan alopecia syndrome OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 updated Moynahan alopecia syndrome OMIM:203600 OMIM MONDO:0008755 Moynahan syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan OMIM:203600 updated alopecia-epilepsy-oligophrenia syndrome of Moynahan OMIM:203600 OMIM -MONDO:0008756 alopecia - intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Amr syndrome Amr syndrome amr syndrome OMIM:203650 alopecia-intellectual disability syndrome 1 OMIM:203650 updated Amr syndrome OMIM:203650 OMIM MONDO:0008757 alopecia universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym ALUNC OMIM:203655 alopecia universalis congenita http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:203655 updated ALUNC OMIM:203655 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 updated Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis OMIM:203700 OMIM MONDO:0008758 mitochondrial DNA depletion syndrome 4a oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4A (Alpers type) mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) OMIM:203700, MONDO:Lexical updated mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM:203700 OMIM @@ -79593,7 +77123,6 @@ MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-methylacetoacetic aciduria ALPHA-methylacetoacetic aciduria alpha-methylacetoacetic aciduria OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 updated ALPHA-methylacetoacetic aciduria OMIM:203750 OMIM MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 updated Mat deficiency OMIM:203750 OMIM MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-Coa thiolase deficiency mitochondrial acetoacetyl-coa thiolase deficiency OMIM:203750 alpha-methylacetoacetic aciduria OMIM:203750 updated mitochondrial acetoacetyl-Coa thiolase deficiency OMIM:203750 OMIM -MONDO:0008760 beta-ketothiolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mat deficiency Mat deficiency mat deficiency OMIM:250850 methionine adenosyltransferase i/iii deficiency OMIM:203750 updated Mat deficiency OMIM:250850 OMIM MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym amaurosis congenita of Leber 1 amaurosis congenita of Leber 1 amaurosis congenita of leber 1 OMIM:204000 leber congenital amaurosis 1 OMIM:204000 updated amaurosis congenita of Leber 1 OMIM:204000 OMIM MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal blindness, congenital OMIM:204000 leber congenital amaurosis 1 OMIM:204000 updated retinal blindness, congenital OMIM:204000 OMIM MONDO:0008764 Leber congenital amaurosis 1 oio:hasExactSynonym oio:hasRelatedSynonym LCA LCA lca OMIM:204000 leber congenital amaurosis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:204000 updated LCA OMIM:204000 OMIM @@ -79634,7 +77163,6 @@ MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym iron-hand MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudo-iron-deficiency Anemia pseudo-iron-deficiency Anemia pseudo-iron-deficiency anemia OMIM:206200 iron-refractory iron deficiency anemia OMIM:206200 updated pseudo-iron-deficiency Anemia OMIM:206200 OMIM MONDO:0008788 IRIDA syndrome oio:hasExactSynonym oio:hasRelatedSynonym IRIDA OMIM:206200 iron-refractory iron deficiency anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206200, MONDO:Lexical updated IRIDA OMIM:206200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym ANPH ANPH anph OMIM:206500 anencephaly 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:206500 updated ANPH OMIM:206500 OMIM -MONDO:0008791 anencephaly 1 oio:hasExactSynonym oio:hasBroadSynonym anencephaly anencephaly Anencephaly OMIMPS:206500 Anencephaly OMIM:206500 updated anencephaly OMIMPS:206500 OMIM MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipoma Microthromboticum angiolipoma Microthromboticum angiolipoma microthromboticum OMIM:206550 angiolipomatosis, familial OMIM:206550 updated angiolipoma Microthromboticum OMIM:206550 OMIM MONDO:0008792 familial angiolipomatosis oio:hasExactSynonym oio:hasRelatedSynonym angiolipomatosis, familial OMIM:206550 angiolipomatosis, familial OMIM:206550 updated angiolipomatosis, familial OMIM:206550 OMIM MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert oio:hasExactSynonym oio:hasRelatedSynonym Divry-Van Bogaert syndrome Divry-Van Bogaert syndrome divry-van bogaert syndrome OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert OMIM:206570 updated Divry-Van Bogaert syndrome OMIM:206570 OMIM @@ -79674,13 +77202,10 @@ MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSyn MONDO:0008817 arterial calcification, generalized, of infancy, 1 oio:hasExactSynonym oio:hasRelatedSynonym GACI1 OMIM:208000 arterial calcification, generalized, of infancy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208000, MONDO:Lexical updated GACI1 OMIM:208000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym arterial tortuosity OMIM:208050 arterial tortuosity syndrome OMIM:208050 updated arterial tortuosity OMIM:208050 OMIM MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical updated ATS OMIM:208050 OMIM -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical updated ATS OMIM:301050 OMIM MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym Arc syndrome Arc syndrome arc syndrome OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 OMIM:208085 updated Arc syndrome OMIM:208085 OMIM MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 oio:hasExactSynonym oio:hasRelatedSynonym ARCS1 OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:208085, MONDO:Lexical updated ARCS1 OMIM:208085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym AMC, neurogenic type AMC, neurogenic type amc, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type OMIM:208100 updated AMC, neurogenic type OMIM:208100 OMIM MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita, neurogenic type OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type MONDO:Lexical, OMIM:208100 updated arthrogryposis multiplex congenita, neurogenic type OMIM:208100 OMIM -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 updated arthrogryposis multiplex congenita with pulmonary hypoplasia OMIM:208150 OMIM -MONDO:0008824 fetal akinesia deformation sequence oio:hasExactSynonym oio:hasRelatedSynonym fetal akinesia sequence OMIM:208150 fetal akinesia deformation sequence 1 OMIM:208150 updated fetal akinesia sequence OMIM:208150 OMIM MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome illum syndrome OMIM:208155 illum syndrome OMIM:208155 updated ILLUM syndrome OMIM:208155 OMIM MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, whistling face, and developmental retardation OMIM:208155 illum syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:208155 updated arthrogryposis, whistling face, and developmental retardation OMIM:208155 OMIM MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis with hyperkeratosis OMIM:208158 arthrogryposis with hyperkeratosis OMIM:208158 updated arthrogryposis with hyperkeratosis OMIM:208158 OMIM @@ -79715,7 +77240,6 @@ MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia o MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oio:hasExactSynonym oio:hasRelatedSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 updated atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease OMIM:209010 OMIM MONDO:0008846 atransferrinemia oio:hasExactSynonym oio:hasRelatedSynonym hypotransferrinemia, familial OMIM:209300 atransferrinemia OMIM:209300 updated hypotransferrinemia, familial OMIM:209300 OMIM MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:209500 atrichia with papular lesions http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 updated APL OMIM:209500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008847 atrichia with papular lesions oio:hasExactSynonym oio:hasRelatedSynonym APL OMIM:612376 acute promyelocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209500, MONDO:Lexical, DOID:0060689 updated APL OMIM:612376 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008848 atrioventricular dissociation oio:hasExactSynonym oio:hasRelatedSynonym A-V dissociation A-V dissociation a-v dissociation OMIM:209600 atrioventricular dissociation OMIM:209600 updated A-V dissociation OMIM:209600 OMIM MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata OMIM:209700 updated Atrophodermia reticulata symmetrica faciei OMIM:209700 OMIM MONDO:0008849 atrophoderma vermiculata oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata OMIM:209700 updated Atrophodermia vermiculata OMIM:209700 OMIM @@ -79727,18 +77251,6 @@ MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARB MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:209885 updated Bss OMIM:209885 OMIM MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 barber-say syndrome OMIM:209885, GARD:0000819 updated hypertrichosis, atrophic skin, ectropion, and macrostomia OMIM:209885 OMIM MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BBRSAY OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885, MONDO:Lexical updated BBRSAY OMIM:209885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209885 updated BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:209885 updated Bss OMIM:605041 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 2 Bare lymphocyte syndrome, type 2 bare lymphocyte syndrome, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 updated Bare lymphocyte syndrome, type 2 OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group A Bare lymphocyte syndrome, type II, complementation group A bare lymphocyte syndrome, type ii, complementation group a OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 updated Bare lymphocyte syndrome, type II, complementation group A OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 2 Bls, type 2 bls, type 2 OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 updated Bls, type 2 OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym SCID, HLA Class II-negative SCID, HLA Class II-negative scid, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920, MESH:C537079 updated SCID, HLA Class II-negative OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 OMIM:209920 updated severe combined immunodeficiency, HLA Class II-negative OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, HLA class ii-negative severe combined immunodeficiency, hla class ii-negative OMIM:209920 mhc class 2 deficiency 1 GARD:0000824, MESH:C537079 updated severe combined immunodeficiency, HLA class ii-negative OMIM:209920 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group B Bare lymphocyte syndrome, type II, complementation group B bare lymphocyte syndrome, type ii, complementation group B OMIM:620815 mhc class 2 deficiency 2 OMIM:209920 updated Bare lymphocyte syndrome, type II, complementation group B OMIM:620815 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group C Bare lymphocyte syndrome, type II, complementation group C bare lymphocyte syndrome, type ii, complementation group c OMIM:620816 mhc class 2 deficiency 3 OMIM:209920 updated Bare lymphocyte syndrome, type II, complementation group C OMIM:620816 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group D Bare lymphocyte syndrome, type II, complementation group D bare lymphocyte syndrome, type ii, complementation group d OMIM:620817 mhc class 2 deficiency 4 OMIM:209920 updated Bare lymphocyte syndrome, type II, complementation group D OMIM:620817 OMIM -MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type II, complementation group E Bare lymphocyte syndrome, type II, complementation group E bare lymphocyte syndrome, type ii, complementation group e OMIM:620818 mhc class 2 deficiency 5 OMIM:209920 updated Bare lymphocyte syndrome, type II, complementation group E OMIM:620818 OMIM MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IFNGR1 deficiency, autosomal recessive IFNGR1 deficiency, autosomal recessive ifngr1 deficiency, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 updated IFNGR1 deficiency, autosomal recessive OMIM:209950 OMIM MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27A, Mycobacteriosis, autosomal recessive immunodeficiency 27a, mycobacteriosis, autosomal recessive OMIM:209950 immunodeficiency 27a OMIM:209950 updated immunodeficiency 27A, Mycobacteriosis, autosomal recessive OMIM:209950 OMIM MONDO:0008856 immunodeficiency 27A oio:hasExactSynonym oio:hasRelatedSynonym IMD27A OMIM:209950 immunodeficiency 27a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:209950, MONDO:Lexical updated IMD27A OMIM:209950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -79764,7 +77276,6 @@ MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2 deficiency MCC2 deficiency mcc2 deficiency OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 updated MCC2 deficiency OMIM:210210 OMIM MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria, type 2 OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency OMIM:210210 updated methylcrotonylglycinuria, type 2 OMIM:210210 OMIM MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym MCC2D OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:210210 updated MCC2D OMIM:210210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008863 sitosterolemia oio:hasExactSynonym oio:hasRelatedSynonym STSL STSL stsl OMIM:210250 sitosterolemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:210250 updated STSL OMIM:210250 OMIM MONDO:0008864 Biemond syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Biemond syndrome 2 Biemond syndrome 2 biemond syndrome 2 OMIM:210350 biemond syndrome 2 GARD:0000882 updated Biemond syndrome 2 OMIM:210350 OMIM MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti crystalline dystrophy Bietti crystalline dystrophy bietti crystalline dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 updated Bietti crystalline dystrophy OMIM:210370 OMIM MONDO:0008865 Bietti crystalline corneoretinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Bietti tapetoretinal Degeneration with marginal corneal dystrophy Bietti tapetoretinal Degeneration with marginal corneal dystrophy bietti tapetoretinal degeneration with marginal corneal dystrophy OMIM:210370 bietti crystalline corneoretinal dystrophy OMIM:210370 updated Bietti tapetoretinal Degeneration with marginal corneal dystrophy OMIM:210370 OMIM @@ -79794,12 +77305,8 @@ MONDO:0008882 congenital bowing of long bones oio:hasExactSynonym oio:hasRelated MONDO:0008886 Sabinas brittle hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle hair and mental Deficit brittle hair and mental Deficit brittle hair and mental deficit OMIM:211390 sabinas brittle hair syndrome OMIM:211390 updated brittle hair and mental Deficit OMIM:211390 OMIM MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:211400 updated cystic fibrosis-like syndrome OMIM:211400 OMIM MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym BESC1 OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211400, MONDO:Lexical updated BESC1 OMIM:211400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:211400 updated cystic fibrosis-like syndrome OMIM:613021 OMIM -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:211400 updated cystic fibrosis-like syndrome OMIM:613071 OMIM MONDO:0008888 Williams-Campbell syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRONCHOMALACIA BRONCHOMALACIA bronchomalacia OMIM:211450 williams-campbell syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211450 updated BRONCHOMALACIA OMIM:211450 OMIM MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease buerger disease OMIM:211480 buerger disease OMIM:211480 updated BUERGER disease OMIM:211480 OMIM -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasNarrowSynonym Brown-Vialetto-Van Laere syndrome 1 Brown-Vialetto-Van Laere syndrome 1 brown-vialetto-van laere syndrome 1 OMIM:211530 brown-vialetto-van laere syndrome 1 OMIM:211530, MONDO:Lexical updated Brown-Vialetto-Van Laere syndrome 1 OMIM:211530 OMIM -MONDO:0008891 riboflavin transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym BVVLS1 OMIM:211530 brown-vialetto-van laere syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:211530, MONDO:Lexical updated BVVLS1 OMIM:211530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 1 OMIM:211600 cholestasis, progressive familial intrahepatic, 1 MONDO:Lexical, OMIM:211600 updated cholestasis, progressive familial intrahepatic, 1 OMIM:211600 OMIM MONDO:0008893 C syndrome oio:hasExactSynonym oio:hasRelatedSynonym trigonocephaly syndrome OMIM:211750 c syndrome OMIM:211750 updated trigonocephaly syndrome OMIM:211750 OMIM MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym cataract, hypertrichosis, mental retardation syndrome OMIM:211770 cahmr syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:211770 updated cataract, hypertrichosis, mental retardation syndrome OMIM:211770 OMIM @@ -79815,7 +77322,6 @@ MONDO:0008904 camptomelic syndrome, long-limb type oio:hasExactSynonym oio:hasRe MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARD9 immunodeficiency CARD9 immunodeficiency card9 immunodeficiency OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 updated CARD9 immunodeficiency OMIM:212050 OMIM MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:212050 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 OMIM MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 2 OMIM:212050 immunodeficiency 103, susceptibility to fungal infections MONDO:Lexical, OMIM:212050 updated candidiasis, familial, 2 OMIM:212050 OMIM -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:212050 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 OMIM MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Jaeken syndrome Jaeken syndrome jaeken syndrome OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 updated Jaeken syndrome OMIM:212065 OMIM MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type Ia, formerly carbohydrate-deficient glycoprotein syndrome, type ia, formerly OMIM:212065 congenital disorder of glycosylation, type ia OMIM:212065 updated carbohydrate-deficient glycoprotein syndrome, type Ia, formerly OMIM:212065 OMIM MONDO:0008907 PMM2-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type Ia congenital disorder of glycosylation, type ia OMIM:212065 congenital disorder of glycosylation, type ia MONDO:Lexical, OMIM:212065 updated congenital disorder of glycosylation, type Ia OMIM:212065 OMIM @@ -79839,7 +77345,6 @@ MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine transporter, plasma-Membrane, deficiency of Carnitine transporter, plasma-Membrane, deficiency of carnitine transporter, plasma-membrane, deficiency of OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 updated Carnitine transporter, plasma-Membrane, deficiency of OMIM:212140 OMIM MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym Carnitine uptake defect Carnitine uptake defect carnitine uptake defect OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 updated Carnitine uptake defect OMIM:212140 OMIM MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym systemic Carnitine deficiency systemic Carnitine deficiency systemic carnitine deficiency OMIM:212140 carnitine deficiency, systemic primary OMIM:212140 updated systemic Carnitine deficiency OMIM:212140 OMIM -MONDO:0008921 carnosinemia oio:hasExactSynonym oio:hasRelatedSynonym homocarnosinosis OMIM:236130 homocarnosinosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:1361 updated homocarnosinosis OMIM:236130 OMIM MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy and cataract OMIM:212350 sengers syndrome OMIM:212350 updated cardiomyopathy and cataract OMIM:212350 OMIM MONDO:0008922 Sengers syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) OMIM:212350 sengers syndrome OMIM:212350 updated mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) OMIM:212350 OMIM MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym oio:hasRelatedSynonym Ppkca, Wallis type Ppkca, Wallis type ppkca, wallis type OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 OMIM:212360 updated Ppkca, Wallis type OMIM:212360 OMIM @@ -79876,7 +77381,6 @@ MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cereb MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome Joubert syndrome joubert syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 updated Joubert syndrome OMIM:213300 OMIM MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert-Boltshauser syndrome Joubert-Boltshauser syndrome joubert-boltshauser syndrome OMIM:213300 joubert syndrome 1 OMIM:213300 updated Joubert-Boltshauser syndrome OMIM:213300 OMIM MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 4 OMIM:213300 joubert syndrome 1 OMIM:213300 updated cerebelloparenchymal disorder 4 OMIM:213300 OMIM -MONDO:0008944 Joubert syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome OMIMPS:213300 Joubert syndrome OMIM:213300 updated Joubert syndrome OMIMPS:213300 OMIM MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym Spinodentate atrophy Spinodentate atrophy spinodentate atrophy OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 updated Spinodentate atrophy OMIM:213400 OMIM MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym cerebelloparenchymal disorder 5 OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 updated cerebelloparenchymal disorder 5 OMIM:213400 OMIM MONDO:0008945 myoclonic cerebellar dyssynergia oio:hasExactSynonym oio:hasRelatedSynonym dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris myoclonica of hunt OMIM:213400 dyssynergia cerebellaris myoclonica of hunt OMIM:213400 updated dyssynergia cerebellaris myoclonica of Hunt OMIM:213400 OMIM @@ -79894,7 +77398,6 @@ MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym o MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym cervical vertebral fusion, autosomal recessive OMIM:214300 klippel-feil syndrome 2, autosomal recessive OMIM:214300 updated cervical vertebral fusion, autosomal recessive OMIM:214300 OMIM MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym KFS2 OMIM:214300 klippel-feil syndrome 2, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:214300, MONDO:Lexical updated KFS2 OMIM:214300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008959 CHAND syndrome oio:hasExactSynonym oio:hasRelatedSynonym curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 chand syndrome OMIM:214350 updated curly hair-ankyloblepharon-nail dysplasia syndrome OMIM:214350 OMIM -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:118300 charcot-marie-tooth disease and deafness OMIM:214370 updated Charcot-Marie-Tooth disease and deafness OMIM:118300 OMIM MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease and deafness charcot-marie-tooth disease and deafness OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 updated Charcot-Marie-Tooth disease and deafness OMIM:214370 OMIM MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness with Charcot-Marie-Tooth disease deafness with Charcot-Marie-Tooth disease deafness with charcot-marie-tooth disease OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers OMIM:214370 updated deafness with Charcot-Marie-Tooth disease OMIM:214370 OMIM MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:214370 updated neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers OMIM:214370 OMIM @@ -79914,7 +77417,6 @@ MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym choles MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym lymphedema-cholestasis syndrome OMIM:214900 cholestasis-lymphedema syndrome OMIM:214900 updated lymphedema-cholestasis syndrome OMIM:214900 OMIM MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 4 OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950, MONDO:Lexical updated bile acid synthesis defect, congenital, 4 OMIM:214950 OMIM MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid OMIM:214950 bile acid synthesis defect, congenital, 4 OMIM:214950 updated cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid OMIM:214950 OMIM -MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency AMACR deficiency amacr deficiency OMIM:614307 alpha-methylacyl-coa racemase deficiency Orphanet:79095 updated AMACR deficiency OMIM:614307 OMIM MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, rhizomelic form OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 updated chondrodysplasia punctata, rhizomelic form OMIM:215100 OMIM MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodystrophia calcificans punctata OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 OMIM:215100 updated chondrodystrophia calcificans punctata OMIM:215100 OMIM MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 oio:hasExactSynonym oio:hasRelatedSynonym RCDP1 OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215100, MONDO:Lexical updated RCDP1 OMIM:215100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -79927,13 +77429,10 @@ MONDO:0008974 Greenberg dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GRBG MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym chordoma, susceptibility to OMIM:215400 chordoma, susceptibility to MONDO:Lexical, OMIM:215400 updated chordoma, susceptibility to OMIM:215400 OMIM MONDO:0008978 chordoma oio:hasExactSynonym oio:hasRelatedSynonym CHDM OMIM:215400 chordoma, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215400 updated CHDM OMIM:215400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008981 infantile choroidocerebral calcification syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus calcification and mental retardation OMIM:215480 choroid plexus calcification and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:215480 updated choroid plexus calcification and mental retardation OMIM:215480 OMIM -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar, 1 OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500, MONDO:Lexical updated choroidal dystrophy, central areolar, 1 OMIM:215500 OMIM -MONDO:0008982 central areolar choroidal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:215500 updated CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0008984 ciliary discoordination due to random ciliary orientation oio:hasExactSynonym oio:hasRelatedSynonym Rutland ciliary disorientation syndrome Rutland ciliary disorientation syndrome rutland ciliary disorientation syndrome OMIM:215518 ciliary discoordination due to random ciliary orientation OMIM:215518 updated Rutland ciliary disorientation syndrome OMIM:215518 OMIM MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Citrullinuria Citrullinuria citrullinuria OMIM:215700 citrullinemia, classic OMIM:215700 updated Citrullinuria OMIM:215700 OMIM MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, classic OMIM:215700 citrullinemia, classic OMIM:215700 updated citrullinemia, classic OMIM:215700 OMIM MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasRelatedSynonym citrullinemia, type 1 OMIM:215700 citrullinemia, classic OMIM:215700 updated citrullinemia, type 1 OMIM:215700 OMIM -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia OMIMPS:215700 Citrullinemia OMIM:215700, OMIM:genemap2 updated citrullinemia OMIMPS:215700 OMIM MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym Clh syndrome Clh syndrome clh syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 updated Clh syndrome OMIM:215850 OMIM MONDO:0008991 Verloove Vanhorick-Brubakk syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft-limb-heart malformation syndrome OMIM:215850 cleft-limb-heart malformation syndrome OMIM:215850 updated cleft-limb-heart malformation syndrome OMIM:215850 OMIM MONDO:0008992 Juberg-Hayward syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft LIP/palate with abnormal thumbs and microcephaly cleft LIP/palate with abnormal thumbs and microcephaly cleft lip/palate with abnormal thumbs and microcephaly OMIM:216100 juberg-hayward syndrome OMIM:216100 updated cleft LIP/palate with abnormal thumbs and microcephaly OMIM:216100 OMIM @@ -79975,7 +77474,6 @@ MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular corneal dystrophy, type 1 OMIM:217800 macular dystrophy, corneal OMIM:217800 updated macular corneal dystrophy, type 1 OMIM:217800 OMIM MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, corneal OMIM:217800 macular dystrophy, corneal MONDO:Lexical, OMIM:217800 updated macular dystrophy, corneal OMIM:217800 OMIM MONDO:0009021 Toriello-Carey syndrome oio:hasExactSynonym oio:hasRelatedSynonym corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and ROBIN sequence corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence OMIM:217980 updated corpus callosum, agenesis of, with facial anomalies and ROBIN sequence OMIM:217980 OMIM -MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC OMIM:107600 aplasia cutis congenita, nonsyndromic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 updated ACC OMIM:107600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009022 corpus callosum, agenesis of oio:hasExactSynonym oio:hasRelatedSynonym ACC ACC acc OMIM:217990 corpus callosum, agenesis of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:217990 updated ACC OMIM:217990 OMIM MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym cortical blindness, retardation, and postaxial polydactyly OMIM:218010 cortical blindness, retardation, and postaxial polydactyly OMIM:218010 updated cortical blindness, retardation, and postaxial polydactyly OMIM:218010 OMIM MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym Ame1 Ame1 ame1 OMIM:218030 apparent mineralocorticoid excess OMIM:218030 updated Ame1 OMIM:218030 OMIM @@ -79984,7 +77482,6 @@ MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelat MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym AME OMIM:218030 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218030 updated AME OMIM:218030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009026 Costello syndrome oio:hasExactSynonym oio:hasRelatedSynonym CSTLO OMIM:218040 costello syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218040, MONDO:Lexical updated CSTLO OMIM:218040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009028 Crane-Heise syndrome oio:hasExactSynonym oio:hasRelatedSynonym cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 crane-heise syndrome OMIM:218090 updated cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus OMIM:218090 OMIM -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 updated CDD OMIM:122860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD OMIM:218300 craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 updated CDD OMIM:218300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome temtamy syndrome OMIM:218340 temtamy syndrome OMIM:218340 updated TEMTAMY syndrome OMIM:218340 OMIM MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 temtamy syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:218340 updated mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum OMIM:218340 OMIM @@ -79999,7 +77496,6 @@ MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym B MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis with radial defects OMIM:218600 baller-gerold syndrome OMIM:218600 updated craniosynostosis with radial defects OMIM:218600 OMIM MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-radial aplasia syndrome OMIM:218600 baller-gerold syndrome OMIM:218600 updated craniosynostosis-radial aplasia syndrome OMIM:218600 OMIM MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BGS OMIM:218600 baller-gerold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:218600 updated BGS OMIM:218600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009046 Fraser syndrome oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 updated cryptophthalmos with Other malformations OMIM:219000 OMIM MONDO:0009047 cryptorchidism oio:hasExactSynonym oio:hasRelatedSynonym cryptorchidism, unilateral or bilateral OMIM:219050 cryptorchidism, unilateral or bilateral OMIM:219050 updated cryptorchidism, unilateral or bilateral OMIM:219050 OMIM MONDO:0009048 curved nail of fourth toe oio:hasExactSynonym oio:hasRelatedSynonym claw-like fingers and toes OMIM:219070 curved nail of fourth toe OMIM:219070 updated claw-like fingers and toes OMIM:219070 OMIM MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous photosensitivity and colitis, lethal OMIM:219095 cutaneous photosensitivity and colitis, lethal OMIM:219095 updated cutaneous photosensitivity and colitis, lethal OMIM:219095 OMIM @@ -80029,7 +77525,6 @@ MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Craniocerebellocardiac dysplasia Craniocerebellocardiac dysplasia craniocerebellocardiac dysplasia OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 updated Craniocerebellocardiac dysplasia OMIM:220210 OMIM MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 OMIM:220210 updated Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 OMIM MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym RTSC1 OMIM:220210 ritscher-schinzel syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220210 updated RTSC1 OMIM:220210 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009073 Ritscher-Schinzel syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ritscher-Schinzel syndrome OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:Lexical, OMIM:220210 updated Ritscher-Schinzel syndrome OMIMPS:220210 OMIM MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy OMIM:220219 dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:220219 updated Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY OMIM:220219 OMIM MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker malformation with postaxial polydactyly Dandy-Walker malformation with postaxial polydactyly dandy-walker malformation with postaxial polydactyly OMIM:220220 dandy-walker malformation with postaxial polydactyly OMIM:220220 updated Dandy-Walker malformation with postaxial polydactyly OMIM:220220 OMIM MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 1A deafness, autosomal recessive 1A deafness, autosomal recessive 1a OMIM:220290 deafness, autosomal recessive 1a MONDO:Lexical, OMIM:220290 updated deafness, autosomal recessive 1A OMIM:220290 OMIM @@ -80053,9 +77548,6 @@ MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abno MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, 3 OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750, MONDO:Lexical updated pituitary hormone deficiency, combined, 3 OMIM:221750 OMIM MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 pituitary hormone deficiency, combined, 3 OMIM:221750 updated pituitary hormone deficiency, combined, with rigid cervical spine OMIM:221750 OMIM MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym CPHD3 OMIM:221750 pituitary hormone deficiency, combined, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:221750, GARD:0010603, MONDO:Lexical updated CPHD3 OMIM:221750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym brain-bone-fat disease OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 updated brain-bone-fat disease OMIM:221770 OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, prefrontal, with bone cysts OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 updated dementia, prefrontal, with bone cysts OMIM:221770 OMIM -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly oio:hasExactSynonym oio:hasRelatedSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 updated dementia, progressive, with lipomembranous polycystic osteodysplasia OMIM:221770 OMIM MONDO:0009094 dermochondrocorneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Francois syndrome Francois syndrome francois syndrome OMIM:221800 dermochondrocorneal dystrophy OMIM:221800 updated Francois syndrome OMIM:221800 OMIM MONDO:0009095 dermatoosteolysis, Kirghizian type oio:hasExactSynonym oio:hasRelatedSynonym Kirghizian Dermatoosteolysis Kirghizian Dermatoosteolysis kirghizian dermatoosteolysis OMIM:221810 dermatoosteolysis, kirghizian type OMIM:221810 updated Kirghizian Dermatoosteolysis OMIM:221810 OMIM MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym persistent fetal vasculature OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive OMIM:221900 updated persistent fetal vasculature OMIM:221900 OMIM @@ -80069,7 +77561,6 @@ MONDO:0009101 Wolfram syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diabe MONDO:0009102 diaminopentanuria oio:hasExactSynonym oio:hasRelatedSynonym cystine-lysinuria OMIM:222350 diaminopentanuria OMIM:222350 updated cystine-lysinuria OMIM:222350 OMIM MONDO:0009103 diaphragmatic hernia 2 oio:hasExactSynonym oio:hasRelatedSynonym DIH2 OMIM:222400 diaphragmatic hernia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222400 updated DIH2 OMIM:222400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009104 Donnai-Barrow syndrome oio:hasExactSynonym oio:hasRelatedSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria OMIM:222448 donnai-barrow syndrome OMIM:222448 updated diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria OMIM:222448 OMIM -MONDO:0009105 trichohepatoenteric syndrome oio:hasExactSynonym oio:hasRelatedSynonym THES1 OMIM:222470 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:222470 updated THES1 OMIM:222470 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD DD dd OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 updated DD OMIM:222600 OMIM MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DTD OMIM:222600 diastrophic dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600, MONDO:Lexical updated DTD OMIM:222600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009108 hyperdibasic aminoaciduria type 1 oio:hasExactSynonym oio:hasRelatedSynonym dibasic amino aciduria 1 OMIM:222690 dibasic amino aciduria 1 OMIM:222690 updated dibasic amino aciduria 1 OMIM:222690 OMIM @@ -80121,7 +77612,6 @@ MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome Meier-Gorlin syndrome meier-gorlin syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 updated Meier-Gorlin syndrome OMIM:224690 OMIM MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microtia, absent patellae, micrognathia syndrome OMIM:224690 meier-gorlin syndrome 1 OMIM:224690 updated microtia, absent patellae, micrognathia syndrome OMIM:224690 OMIM MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MGORS1 OMIM:224690 meier-gorlin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224690, MONDO:Lexical updated MGORS1 OMIM:224690 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009143 Meier-Gorlin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Meier-Gorlin syndrome OMIMPS:224690 Meier-Gorlin syndrome OMIM:224690 updated Meier-Gorlin syndrome OMIMPS:224690 OMIM MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym SCHOPF-Schulz-Passarge syndrome SCHOPF-Schulz-Passarge syndrome schopf-schulz-passarge syndrome OMIM:224750 schopf-schulz-passarge syndrome MONDO:Lexical, OMIM:224750 updated SCHOPF-Schulz-Passarge syndrome OMIM:224750 OMIM MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym eccrine tumors with ectodermal dysplasia OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 updated eccrine tumors with ectodermal dysplasia OMIM:224750 OMIM MONDO:0009145 SchC6pf-Schulz-Passarge syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 schopf-schulz-passarge syndrome OMIM:224750 updated keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis OMIM:224750 OMIM @@ -80129,8 +77619,6 @@ MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome oio:hasExactS MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 updated ectodermal dysplasia, anhidrotic OMIM:224900 OMIM MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 updated ectodermal dysplasia, hypohidrotic OMIM:224900 OMIM MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD10B OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:224900, MONDO:Lexical updated ECTD10B OMIM:224900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 updated ectodermal dysplasia, anhidrotic OMIM:614941 OMIM -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:224900 updated ectodermal dysplasia, hypohidrotic OMIM:614941 OMIM MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 updated ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040 OMIM MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 updated ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia OMIM:225050 OMIM MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita Island type ectodermal dysplasia, margarita island type OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome OMIM:225060 updated ectodermal dysplasia, margarita Island type OMIM:225060 OMIM @@ -80184,8 +77672,6 @@ MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSyn MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa junctionalis, progressive OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 updated epidermolysis bullosa Junctionalis, progressive OMIM:226650 OMIM MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa junctionalis, severe nonlethal OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 updated epidermolysis bullosa Junctionalis, severe Nonlethal OMIM:226650 OMIM MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym junctional epidermolysis bullosa inversa OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate OMIM:226650 updated junctional epidermolysis bullosa inversa OMIM:226650 OMIM -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, generalized atrophic benign OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 updated epidermolysis bullosa, generalized atrophic benign OMIM:619787 OMIM -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, localisata variant OMIM:619787 epidermolysis bullosa, junctional 4, intermediate OMIM:226650 updated epidermolysis bullosa, junctional, Localisata variant OMIM:619787 OMIM MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym MD-EBS MD-EBS md-ebs OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy OMIM:226670, GARD:0002137 updated MD-EBS OMIM:226670 OMIM MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa junctionalis, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 updated epidermolysis bullosa Junctionalis, Herlitz type OMIM:226700 OMIM MONDO:0009182 junctional epidermolysis bullosa Herlitz type oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, herlitz type OMIM:226700 epidermolysis bullosa, junctional 1b, severe OMIM:226700 updated epidermolysis bullosa, junctional, Herlitz type OMIM:226700 OMIM @@ -80247,7 +77733,6 @@ MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:ha MONDO:0009214 Fanconi anemia complementation group D2 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi pancytopenia, type 4 Fanconi pancytopenia, type 4 fanconi pancytopenia, type 4 OMIM:227646 fanconi anemia, complementation group d2 OMIM:227646 updated Fanconi pancytopenia, type 4 OMIM:227646 OMIM MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia fanconi anemia OMIM:227650 fanconi anemia, complementation group a OMIM:227650 updated Fanconi Anemia OMIM:227650 OMIM MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group A Fanconi anemia, complementation group A fanconi anemia, complementation group a OMIM:227650 fanconi anemia, complementation group a OMIM:227650, MONDO:Lexical updated Fanconi anemia, complementation group A OMIM:227650 OMIM -MONDO:0009215 Fanconi anemia complementation group A oio:hasExactSynonym oio:hasRelatedSynonym Fanconi Anemia Fanconi Anemia Fanconi anemia OMIMPS:227650 Fanconi anemia OMIM:227650 updated Fanconi Anemia OMIMPS:227650 OMIM MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogenosis, Fanconi type glycogenosis, Fanconi type glycogenosis, fanconi type OMIM:227810 fanconi-bickel syndrome OMIM:227810 updated glycogenosis, Fanconi type OMIM:227810 OMIM MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with fanconi nephropathy OMIM:227810 fanconi-bickel syndrome OMIM:227810 updated hepatic glycogenosis with Fanconi nephropathy OMIM:227810 OMIM MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 updated hepatic glycogenosis with amino aciduria and glucosuria OMIM:227810 OMIM @@ -80255,7 +77740,6 @@ MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynon MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 fanconi-bickel syndrome GARD:0002268 updated hepatorenal glycogenosis with renal fanconi syndrome OMIM:227810 OMIM MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudo-phlorizin diabetes OMIM:227810 fanconi-bickel syndrome GARD:0002268, OMIM:227810 updated pseudo-phlorizin diabetes OMIM:227810 OMIM MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:227810 fanconi-bickel syndrome http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 updated glycogen storage disease 11 OMIM:227810 OMIM -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease 11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:227810 updated glycogen storage disease 11 OMIM:612933 OMIM MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym AC deficiency AC deficiency ac deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 updated AC deficiency OMIM:228000 OMIM MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym N-Laurylsphingosine deacylase deficiency N-Laurylsphingosine deacylase deficiency n-laurylsphingosine deacylase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 updated N-Laurylsphingosine deacylase deficiency OMIM:228000 OMIM MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym oio:hasRelatedSynonym ceramidase deficiency OMIM:228000 farber lipogranulomatosis OMIM:228000 updated ceramidase deficiency OMIM:228000 OMIM @@ -80295,9 +77779,6 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym Figlu-Uria Figlu-Uria figlu-uria OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 updated Figlu-Uria OMIM:229100 OMIM MONDO:0009240 formiminoglutamic aciduria oio:hasExactSynonym oio:hasRelatedSynonym formiminotransferase deficiency OMIM:229100 glutamate formiminotransferase deficiency OMIM:229100 updated formiminotransferase deficiency OMIM:229100 OMIM MONDO:0009241 fountain syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 fountain syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:229120 updated mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips OMIM:229120 OMIM -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym brittle cornea syndrome 1 OMIM:229200 brittle cornea syndrome 1 OMIM:229200, MONDO:Lexical updated brittle cornea syndrome 1 OMIM:229200 OMIM -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:229200 updated BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasNarrowSynonym brittle cornea syndrome 2 OMIM:614170 brittle cornea syndrome 2 DOID:14775 updated brittle cornea syndrome 2 OMIM:614170 OMIM MONDO:0009243 Fraser-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 fraser-like syndrome OMIM:229230 updated Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230 OMIM MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Ffnd Ffnd ffnd OMIM:229400 frontofacionasal dysplasia OMIM:229400 updated Ffnd OMIM:229400 OMIM MONDO:0009247 frontofacionasal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Frontofacionasal dysostosis Frontofacionasal dysostosis frontofacionasal dysostosis OMIM:229400 frontofacionasal dysplasia OMIM:229400 updated Frontofacionasal dysostosis OMIM:229400 OMIM @@ -80315,7 +77796,6 @@ MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedS MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency galt deficiency OMIM:230400 galactosemia 1 OMIM:230400 updated Galt deficiency OMIM:230400 OMIM MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 galactosemia 1 OMIM:230400 updated galactose-1-phosphate uridylyltransferase deficiency OMIM:230400 OMIM MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia, classic OMIM:230400 galactosemia 1 OMIM:230400 updated galactosemia, classic OMIM:230400 OMIM -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia OMIMPS:230400 Galactosemia OMIM:230400 updated galactosemia OMIMPS:230400 OMIM MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Beta-galactosidase-1 deficiency beta-galactosidase-1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 updated Beta-galactosidase-1 deficiency OMIM:230500 OMIM MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym GM1-gangliosidosis, type 1 GM1-gangliosidosis, type 1 gm1-gangliosidosis, type 1 OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 updated GM1-gangliosidosis, type 1 OMIM:230500 OMIM MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency glb1 deficiency OMIM:230500 gm1-gangliosidosis, type 1 OMIM:230500 updated Glb1 deficiency OMIM:230500 OMIM @@ -80350,7 +77830,6 @@ MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelated MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 updated hydatidiform Mole, complete OMIM:231090 OMIM MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:231090 updated hydatidiform mole OMIM:231090 OMIM MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym HYDM1 OMIM:231090 hydatidiform mole, recurrent, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231090, MONDO:Lexical updated HYDM1 OMIM:231090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009273 hydatidiform mole, recurrent, 1 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:231090 updated hydatidiform Mole, complete OMIM:614293 OMIM MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia ghosal hematodiaphyseal dysplasia OMIM:231095 ghosal hematodiaphyseal dysplasia OMIM:231095 updated GHOSAL hematodiaphyseal dysplasia OMIM:231095 OMIM MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHDD OMIM:231095 ghosal hematodiaphyseal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231095, GARD:0010297, MONDO:Lexical updated GHDD OMIM:231095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym Nh Nh nh OMIM:231100 hemochromatosis, neonatal OMIM:231100 updated Nh OMIM:231100 OMIM @@ -80359,13 +77838,11 @@ MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym giant cell Hepatitis, formerly giant cell Hepatitis, formerly giant cell hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 updated giant cell Hepatitis, formerly OMIM:231100 OMIM MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym hemochromatosis, neonatal OMIM:231100 hemochromatosis, neonatal OMIM:231100 updated hemochromatosis, neonatal OMIM:231100 OMIM MONDO:0009275 neonatal hemochromatosis oio:hasExactSynonym oio:hasRelatedSynonym neonatal Hepatitis, formerly neonatal Hepatitis, formerly neonatal hepatitis, formerly OMIM:231100 hemochromatosis, neonatal OMIM:231100 updated neonatal Hepatitis, formerly OMIM:231100 OMIM -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:209885 barber-say syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical updated BSS OMIM:209885 OMIM MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein Ib deficiency Platelet glycoprotein Ib deficiency platelet glycoprotein ib deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 updated Platelet glycoprotein Ib deficiency OMIM:231200 OMIM MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym Von Willebrand Factor receptor deficiency Von Willebrand Factor receptor deficiency von willebrand factor receptor deficiency OMIM:231200 bernard-soulier syndrome OMIM:231200 updated Von Willebrand Factor receptor deficiency OMIM:231200 OMIM MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 1 bleeding disorder, Platelet-type, 1 bleeding disorder, platelet-type, 1 OMIM:231200 bernard-soulier syndrome OMIM:231200 updated bleeding disorder, Platelet-type, 1 OMIM:231200 OMIM MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym glycoprotein Ib, Platelet, deficiency of glycoprotein Ib, Platelet, deficiency of glycoprotein ib, platelet, deficiency of OMIM:231200 bernard-soulier syndrome OMIM:231200 updated glycoprotein Ib, Platelet, deficiency of OMIM:231200 OMIM MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical updated BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS BSS bss OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:231200, MONDO:Lexical updated BSS OMIM:605041 OMIM MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos OMIM:231300 glaucoma 3, primary congenital, a DOID:11211, OMIM:231300 updated buphthalmos OMIM:231300 OMIM MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma 3, primary congenital, A glaucoma 3, primary congenital, A glaucoma 3, primary congenital, a OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300, MONDO:Lexical updated glaucoma 3, primary congenital, A OMIM:231300 OMIM MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasRelatedSynonym glaucoma, congenital OMIM:231300 glaucoma 3, primary congenital, a OMIM:231300 updated glaucoma, congenital OMIM:231300 OMIM @@ -80443,7 +77920,6 @@ MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym renal glucosuria OMIM:233100 renal glucosuria OMIM:233100, GARD:0007548, MONDO:Lexical updated renal glucosuria OMIM:233100 OMIM MONDO:0009297 familial renal glucosuria oio:hasExactSynonym oio:hasRelatedSynonym GLYS OMIM:233100 renal glucosuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:233100 updated GLYS OMIM:233100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009298 GOMBO syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 gombo syndrome OMIM:233270 updated Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270 OMIM -MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym XX gonadal dysgenesis XX gonadal dysgenesis xx gonadal dysgenesis OMIM:233300 ovarian dysgenesis 1 OMIM:233300 updated XX gonadal dysgenesis OMIM:233300 OMIM MONDO:0009299 46 XX gonadal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis ovarian dysgenesis Ovarian dysgenesis OMIMPS:233300 Ovarian dysgenesis OMIMPS:233300 updated ovarian dysgenesis OMIMPS:233300 OMIM MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym gonadal dysgenesis, 20 type, with deafness OMIM:233400 perrault syndrome 1 OMIM:233400 updated gonadal dysgenesis, 20 type, with deafness OMIM:233400 OMIM MONDO:0009300 Perrault syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ovarian dysgenesis with sensorineural deafness OMIM:233400 perrault syndrome 1 OMIM:233400 updated ovarian dysgenesis with sensorineural deafness OMIM:233400 OMIM @@ -80491,7 +77967,6 @@ MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 oio:hasE MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 updated Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 OMIM MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lymphatic dysplasia, generalized OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 OMIM:235510 updated lymphatic dysplasia, generalized OMIM:235510 OMIM MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HKLLS1 OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:235510 updated HKLLS1 OMIM:235510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome OMIM:235510 updated Hennekam lymphangiectasia-lymphedema syndrome OMIMPS:235510 OMIM MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym hepatic venoocclusive disease with immunodeficiency OMIM:235550 hepatic venoocclusive disease with immunodeficiency OMIM:235550, MONDO:Lexical updated hepatic venoocclusive disease with immunodeficiency OMIM:235550 OMIM MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym VODI OMIM:235550 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C537257, MONDO:Lexical, OMIM:235550, GARD:0010083 updated VODI OMIM:235550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009339 congenital bile acid synthesis defect 2 oio:hasExactSynonym oio:hasRelatedSynonym bile acid synthesis defect, congenital, 2 OMIM:235555 bile acid synthesis defect, congenital, 2 OMIM:235555, MONDO:Lexical updated bile acid synthesis defect, congenital, 2 OMIM:235555 OMIM @@ -80518,7 +77993,6 @@ MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficie MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym methylcobalamin deficiency, cblE type methylcobalamin deficiency, cblE type methylcobalamin deficiency, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 updated methylcobalamin deficiency, cblE type OMIM:236270 OMIM MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym vitamin B12-responsive homocystinuria, cblE type vitamin B12-responsive homocystinuria, cblE type vitamin b12-responsive homocystinuria, cble type OMIM:236270 homocystinuria-megaloblastic anemia, cble type OMIM:236270 updated vitamin B12-responsive homocystinuria, cblE type OMIM:236270 OMIM MONDO:0009354 methylcobalamin deficiency type cblE oio:hasExactSynonym oio:hasRelatedSynonym HMAE OMIM:236270 homocystinuria-megaloblastic anemia, cble type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236270 updated HMAE OMIM:236270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:143050 humeroradial synostosis OMIM:236400 updated humeroradial synostosis OMIM:143050 OMIM MONDO:0009356 autosomal recessive humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humeroradial synostosis OMIM:236400 humeroradial synostosis OMIM:236400 updated humeroradial synostosis OMIM:236400 OMIM MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym cond OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome OMIM:236450 updated cond OMIM:236450 OMIM MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oio:hasExactSynonym oio:hasRelatedSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly OMIM:236500 updated multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly OMIM:236500 OMIM @@ -80538,7 +78012,6 @@ MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 OMIM:236670, MONDO:Lexical updated muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM:236670 OMIM MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 oio:hasExactSynonym oio:hasRelatedSynonym MDDGA1 OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236670 updated MDDGA1 OMIM:236670 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym HLS1 OMIM:236680 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236680, MONDO:Lexical updated HLS1 OMIM:236680 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009365 hydrolethalus syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hydrolethalus syndrome hydrolethalus syndrome Hydrolethalus syndrome OMIMPS:236680 Hydrolethalus syndrome OMIM:genemap2, OMIM:236680 updated hydrolethalus syndrome OMIMPS:236680 OMIM MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCKUSICK-Kaufman syndrome MCKUSICK-Kaufman syndrome mckusick-kaufman syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 updated MCKUSICK-Kaufman syndrome OMIM:236700 OMIM MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos syndrome OMIM:236700 mckusick-kaufman syndrome OMIM:236700 updated hydrometrocolpos syndrome OMIM:236700 OMIM MONDO:0009367 McKusick-Kaufman syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 mckusick-kaufman syndrome OMIM:236700 updated hydrometrocolpos, postaxial polydactyly, and congenital heart malformation OMIM:236700 OMIM @@ -80550,7 +78023,6 @@ MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome OMIM:236730 urofacial syndrome 1 OMIM:236730 updated urofacial syndrome OMIM:236730 OMIM MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome 1 OMIM:236730 urofacial syndrome 1 OMIM:236730, MONDO:Lexical updated urofacial syndrome 1 OMIM:236730 OMIM MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym UFS1 OMIM:236730 urofacial syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236730, MONDO:Lexical updated UFS1 OMIM:236730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009368 urofacial syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym urofacial syndrome urofacial syndrome Urofacial syndrome OMIMPS:236730 Urofacial syndrome OMIM:236730 updated urofacial syndrome OMIMPS:236730 OMIM MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym hydrops fetalis, nonimmune OMIM:236750 hydrops fetalis, nonimmune OMIM:236750, MONDO:Lexical updated hydrops fetalis, nonimmune OMIM:236750 OMIM MONDO:0009369 non-immune hydrops fetalis oio:hasExactSynonym oio:hasRelatedSynonym NIHF OMIM:236750 hydrops fetalis, nonimmune http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:236750 updated NIHF OMIM:236750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009370 L-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym L2HGA OMIM:236792 l-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:236792, MONDO:Lexical updated L2HGA OMIM:236792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -80594,7 +78066,6 @@ MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym L-lysine: MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 1 OMIM:238700 hyperlysinemia, type 1 OMIM:238700 updated hyperlysinemia, type 1 OMIM:238700 OMIM MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine intolerance OMIM:238700 hyperlysinemia, type 1 OMIM:238700 updated lysine intolerance OMIM:238700 OMIM MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym lysine:Alpha-ketoglutarate reductase deficiency lysine:Alpha-ketoglutarate reductase deficiency lysine:alpha-ketoglutarate reductase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:238700 updated lysine:Alpha-ketoglutarate reductase deficiency OMIM:238700 OMIM -MONDO:0009388 hyperlysinemia oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:238700 updated Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 OMIM MONDO:0009390 hyperlysinuria with hyperammonemia oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, periodic OMIM:238750 hyperlysinuria with hyperammonemia OMIM:238750 updated hyperlysinemia, periodic OMIM:238750 OMIM MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hhh syndrome Hhh syndrome hhh syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 updated Hhh syndrome OMIM:238970 OMIM MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 updated hyperornithinemia-hyperammonemia-homocitrullinuria syndrome OMIM:238970 OMIM @@ -80673,13 +78144,10 @@ MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oi MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 updated ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly OMIM:242100 OMIM MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242100 updated ichthyosiform erythroderma, nonbullous congenital, 1, formerly OMIM:242100 OMIM MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 2 OMIM:242100 ichthyosis, congenital, autosomal recessive 2 MONDO:Lexical, OMIM:242100 updated ichthyosis, congenital, autosomal recessive 2 OMIM:242100 OMIM -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242100 updated collodion baby, self-healing OMIM:242300 OMIM -MONDO:0009439 autosomal recessive congenital ichthyosis 2 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242100 updated collodion baby, self-healing OMIM:606545 OMIM MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Desmons syndrome Desmons syndrome desmons syndrome OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 updated Desmons syndrome OMIM:242150 OMIM MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym KID syndrome, autosomal recessive KID syndrome, autosomal recessive kid syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 updated KID syndrome, autosomal recessive OMIM:242150 OMIM MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasNarrowSynonym ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 updated ichthyosiform erythroderma, corneal involvement, and deafness OMIM:242150 OMIM MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss oio:hasExactSynonym oio:hasRelatedSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 updated keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150 OMIM -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:242300 updated collodion baby, self-healing OMIM:242100 OMIM MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 updated collodion baby, self-healing OMIM:242300 OMIM MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion fetus OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 updated collodion fetus OMIM:242300 OMIM MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym desquamation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300, GARD:0003170 updated desquamation of newborn OMIM:242300 OMIM @@ -80689,7 +78157,6 @@ MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oi MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 updated ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300 OMIM MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 1, formerly OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:242300 updated ichthyosis, lamellar, 1, formerly OMIM:242300 OMIM MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym lamellar exfoliation of newborn OMIM:242300 ichthyosis, congenital, autosomal recessive 1 GARD:0003170, OMIM:242300 updated lamellar exfoliation of newborn OMIM:242300 OMIM -MONDO:0009441 autosomal recessive congenital ichthyosis 1 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:242300 updated collodion baby, self-healing OMIM:606545 OMIM MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym 'Harlequin fetus' 'Harlequin fetus' 'harlequin fetus' OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 updated 'Harlequin fetus' OMIM:242500 OMIM MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis congenita, Harlequin fetus type ichthyosis congenita, Harlequin fetus type ichthyosis congenita, harlequin fetus type OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500 updated ichthyosis congenita, Harlequin fetus type OMIM:242500 OMIM MONDO:0009443 autosomal recessive congenital ichthyosis 4B oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4B ichthyosis, congenital, autosomal recessive 4b OMIM:242500 ichthyosis, congenital, autosomal recessive 4b OMIM:242500, MONDO:Lexical updated ichthyosis, congenital, autosomal recessive 4B OMIM:242500 OMIM @@ -80722,7 +78189,6 @@ MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome oi MONDO:0009468 pseudotumor cerebri oio:hasExactSynonym oio:hasRelatedSynonym intracranial hypertension, idiopathic OMIM:243200 intracranial hypertension, idiopathic OMIM:243200 updated intracranial hypertension, idiopathic OMIM:243200 OMIM MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Summerskill syndrome Summerskill syndrome summerskill syndrome OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 GARD:0010028, OMIM:243300 updated Summerskill syndrome OMIM:243300 OMIM MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 OMIM:243300, MONDO:Lexical updated cholestasis, benign recurrent intrahepatic, 1 OMIM:243300 OMIM -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasBroadSynonym cholestasis, benign recurrent intrahepatic cholestasis, benign recurrent intrahepatic Cholestasis, benign recurrent intrahepatic OMIMPS:243300 Cholestasis, benign recurrent intrahepatic OMIM:genemap2, OMIM:243300 updated cholestasis, benign recurrent intrahepatic OMIMPS:243300 OMIM MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Baraitser-WINTER syndrome 1 Baraitser-WINTER syndrome 1 baraitser-winter syndrome 1 OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 updated Baraitser-WINTER syndrome 1 OMIM:243310 OMIM MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculofacial lymphatic syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 updated cerebrooculofacial lymphatic syndrome OMIM:243310 OMIM MONDO:0009470 Baraitser-Winter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 7P22 deletion syndrome chromosome 7P22 deletion syndrome chromosome 7p22 deletion syndrome OMIM:243310 baraitser-winter syndrome 1 OMIM:243310 updated chromosome 7P22 deletion syndrome OMIM:243310 OMIM @@ -80748,10 +78214,8 @@ MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome with bilateral chorioretinal coloboma Joubert syndrome with bilateral chorioretinal coloboma joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 arima syndrome GARD:0009455, OMIM:243910 updated Joubert syndrome with bilateral chorioretinal coloboma OMIM:243910 OMIM MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebrooculohepatorenal syndrome OMIM:243910 arima syndrome OMIM:243910 updated cerebrooculohepatorenal syndrome OMIM:243910 OMIM MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 arima syndrome OMIM:243910 updated coloboma, chorioretinal, with cerebellar vermis aplasia OMIM:243910 OMIM -MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym Joubert syndrome 5 Joubert syndrome 5 joubert syndrome 5 OMIM:610188 joubert syndrome 5 GARD:0009455 updated Joubert syndrome 5 OMIM:610188 OMIM MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH3 OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:244200 updated HH3 OMIM:244200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym oio:hasRelatedSynonym long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft lip/palate and eye, heart, and intestinal anomalies OMIM:244300 kapur-toriello syndrome OMIM:244300 updated long columella with cleft Lip/palate and eye, heart, and intestinal anomalies OMIM:244300 OMIM -MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PCD OMIM:212790 premature centromere division http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244400 updated PCD OMIM:212790 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym Polynesian bronchiectasis Polynesian bronchiectasis polynesian bronchiectasis OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 updated Polynesian bronchiectasis OMIM:244400 OMIM MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1 OMIM:244400 ciliary dyskinesia, primary, 1 MONDO:Lexical, OMIM:244400 updated ciliary dyskinesia, primary, 1 OMIM:244400 OMIM MONDO:0009484 primary ciliary dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 ciliary dyskinesia, primary, 1 OMIM:244400 updated ciliary dyskinesia, primary, 1, with or without situs inversus OMIM:244400 OMIM @@ -80796,11 +78260,8 @@ MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactS MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym lactic acidosis, fatal infantile, formerly OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 updated lactic acidosis, fatal infantile, formerly OMIM:245400 OMIM MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400, MONDO:Lexical updated mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM:245400 OMIM MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS9 OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:245400 updated MTDPS9 OMIM:245400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 updated lactoferrin-deficient neutrophils OMIM:245480 OMIM -MONDO:0009506 specific granule deficiency oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 updated neutrophil lactoferrin deficiency OMIM:245480 OMIM MONDO:0009507 Lambert syndrome oio:hasExactSynonym oio:hasRelatedSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 lambert syndrome OMIM:245550 updated branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550 OMIM MONDO:0009508 Lambotte syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine Growth retardation microcephaly, holoprosencephaly, and intrauterine growth retardation OMIM:245552 lambotte syndrome OMIM:245552 updated microcephaly, holoprosencephaly, and intrauterine Growth retardation OMIM:245552 OMIM -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes OMIM:117100 centralopathic epilepsy OMIM:245570 updated benign epilepsy of childhood with centrotemporal spikes OMIM:117100 OMIM MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym aphasia, acquired, with epilepsy OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development OMIM:245570 updated aphasia, acquired, with epilepsy OMIM:245570 OMIM MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 updated epilepsy, focal, with speech disorder and with or without mental retardation OMIM:245570 OMIM MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym FESD OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:245570 updated FESD OMIM:245570 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -80821,7 +78282,6 @@ MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRel MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency hmg-coa lyase deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 updated HMG-Coa lyase deficiency OMIM:246450 OMIM MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym Hmgcl deficiency Hmgcl deficiency hmgcl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:246450 updated Hmgcl deficiency OMIM:246450 OMIM MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMGCLD OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:246450 updated HMGCLD OMIM:246450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:246450 updated HL deficiency OMIM:614025 OMIM MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 limb defects, distal transverse, with impaired intellectual development and spasticity http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:246555 updated limb defects, distal transverse, with mental retardation and spasticity OMIM:246555 OMIM MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym Shsf3 Shsf3 shsf3 OMIM:246560 split-hand/foot malformation 3 OMIM:246560 updated Shsf3 OMIM:246560 OMIM MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 10Q24 Duplication syndrome chromosome 10Q24 Duplication syndrome chromosome 10q24 duplication syndrome OMIM:246560 split-hand/foot malformation 3 OMIM:246560 updated chromosome 10Q24 Duplication syndrome OMIM:246560 OMIM @@ -80877,13 +78337,6 @@ MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSA MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency lysosomal beta-mannosidase deficiency OMIM:248510 mannosidosis, beta a, lysosomal OMIM:248510 updated lysosomal Beta-mannosidase deficiency OMIM:248510 OMIM MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym mannosidosis, BETA A, lysosomal mannosidosis, BETA A, lysosomal mannosidosis, beta a, lysosomal OMIM:248510 mannosidosis, beta a, lysosomal MONDO:Lexical, OMIM:248510 updated mannosidosis, BETA A, lysosomal OMIM:248510 OMIM MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym MANSB OMIM:248510 mannosidosis, beta a, lysosomal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248510, MONDO:Lexical updated MANSB OMIM:248510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency OMIM:246900 dihydrolipoamide dehydrogenase deficiency DOID:9269, OMIM:246900 updated dihydrolipoamide dehydrogenase deficiency OMIM:246900 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym Keto acid decarboxylase deficiency Keto acid decarboxylase deficiency keto acid decarboxylase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 updated Keto acid decarboxylase deficiency OMIM:248600 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain Alpha-Keto acid dehydrogenase deficiency branched-chain alpha-keto acid dehydrogenase deficiency OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 updated branched-chain Alpha-Keto acid dehydrogenase deficiency OMIM:248600 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1A maple syrup urine disease, type 1A maple syrup urine disease, type 1a OMIM:248600 maple syrup urine disease, type 1a OMIM:248600 updated maple syrup urine disease, type 1A OMIM:248600 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 1B maple syrup urine disease, type 1B maple syrup urine disease, type 1b OMIM:620698 maple syrup urine disease, type 1b OMIM:248600 updated maple syrup urine disease, type 1B OMIM:620698 OMIM -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasNarrowSynonym maple syrup urine disease, type 2 OMIM:620699 maple syrup urine disease, type 2 OMIM:248600 updated maple syrup urine disease, type 2 OMIM:620699 OMIM -MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWS Mws MWS OMIM:191900 muckle-wells syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248700 updated MWS OMIM:191900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome marden-walker syndrome OMIM:248700 marden-walker syndrome OMIM:248700 updated MARDEN-WALKER syndrome OMIM:248700 OMIM MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mws Mws mws OMIM:248700 marden-walker syndrome OMIM:248700 updated Mws OMIM:248700 OMIM MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MWKS OMIM:248700 marden-walker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:248700 updated MWKS OMIM:248700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -80897,7 +78350,6 @@ MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome Meckel syndrome meckel syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 updated Meckel syndrome OMIM:249000 OMIM MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome meckel-gruber syndrome OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 updated Meckel-Gruber syndrome OMIM:249000 OMIM MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mes Mes mes OMIM:249000 meckel syndrome, type 1 MESH:C536133, OMIM:249000 updated Mes OMIM:249000 OMIM -MONDO:0009571 Meckel syndrome, type 1 oio:hasExactSynonym oio:hasRelatedSynonym Meckel syndrome OMIMPS:249000 Meckel syndrome MESH:C536133, OMIM:249000 updated Meckel syndrome OMIMPS:249000 OMIM MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial MEDITERRANEAN FEVER familial MEDITERRANEAN FEVER familial mediterranean fever OMIM:249100 familial mediterranean fever OMIM:249100 updated familial MEDITERRANEAN FEVER OMIM:249100 OMIM MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym familial Mediterranean fever familial Mediterranean fever familial mediterranean fever OMIM:249100 familial mediterranean fever MONDO:Lexical, OMIM:249100 updated familial Mediterranean fever OMIM:249100 OMIM MONDO:0009572 autosomal recessive familial Mediterranean fever oio:hasExactSynonym oio:hasRelatedSynonym polyserositis, familial paroxysmal OMIM:249100 familial mediterranean fever OMIM:249100 updated polyserositis, familial paroxysmal OMIM:249100 OMIM @@ -81013,9 +78465,6 @@ MONDO:0009623 Nijmegen breakage syndrome oio:hasExactSynonym oio:hasRelatedSynon MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 MONDO:Lexical, OMIM:251270 updated microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270 OMIM MONDO:0009624 microcephaly and chorioretinopathy 1 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP1 OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251270 updated MCCRP1 OMIM:251270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM:251280 updated microcephaly, seizures, spasticity, and brain calcifications OMIM:251280 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 GARD:0000065, OMIM:251300 updated microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 updated spinocerebellar ataxia, autosomal recessive 5, formerly OMIM:251300 OMIM -MONDO:0009627 Galloway-Mowat syndrome oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 galloway-mowat syndrome 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:251300 updated cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities OMIM:251300 OMIM MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym desbuquois syndrome OMIM:251450 desbuquois dysplasia 1 OMIM:251450 updated desbuquois syndrome OMIM:251450 OMIM MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 desbuquois dysplasia 1 OMIM:251450 updated micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification OMIM:251450 OMIM MONDO:0009629 Desbuquois dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym DBQD1 OMIM:251450 desbuquois dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:251450 updated DBQD1 OMIM:251450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -81025,7 +78474,6 @@ MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:251600 updated anophthalmia, clinical, isolated OMIM:251600 OMIM MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 1 OMIM:251600 microphthalmia, isolated 1 OMIM:251600, MONDO:Lexical updated microphthalmia, isolated 1 OMIM:251600 OMIM MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmos, autosomal recessive OMIM:251600 microphthalmia, isolated 1 OMIM:251600 updated microphthalmos, autosomal recessive OMIM:251600 OMIM -MONDO:0009631 isolated microphthalmia 1 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:251600 updated anophthalmia, clinical, isolated OMIM:610093 OMIM MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma oio:hasExactSynonym oio:hasRelatedSynonym MSPKA OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:251750, MONDO:Lexical updated MSPKA OMIM:251750 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte Brush-border abnormalities congenital familial protracted diarrhea with enterocyte brush-border abnormalities OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis OMIM:251850 updated congenital familial protracted diarrhea with enterocyte Brush-border abnormalities OMIM:251850 OMIM MONDO:0009635 microvillus inclusion disease oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 2, with microvillus atrophy OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis MONDO:Lexical, OMIM:251850 updated diarrhea 2, with microvillus atrophy OMIM:251850 OMIM @@ -81043,7 +78491,6 @@ MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome oio:hasExactSyno MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease Moyamoya disease moyamoya disease OMIM:252350 moyamoya disease 1 OMIM:252350 updated Moyamoya disease OMIM:252350 OMIM MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease 1 Moyamoya disease 1 moyamoya disease 1 OMIM:252350 moyamoya disease 1 OMIM:252350, MONDO:Lexical updated Moyamoya disease 1 OMIM:252350 OMIM MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of Willis spontaneous occlusion of the circle of willis OMIM:252350 moyamoya disease 1 OMIM:252350 updated spontaneous occlusion of the circle of Willis OMIM:252350 OMIM -MONDO:0009649 moyamoya disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Moyamoya disease OMIMPS:252350 Moyamoya disease OMIM:252350 updated Moyamoya disease OMIMPS:252350 OMIM MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym ML 2 Alpha/Beta ML 2 Alpha/Beta ml 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 updated ML 2 Alpha/Beta OMIM:252500 OMIM MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 updated mucolipidosis 2 OMIM:252500 OMIM MONDO:0009650 mucolipidosis type II oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis 2 alpha/beta OMIM:252500 mucolipidosis 2 alpha/beta OMIM:252500 updated mucolipidosis 2 alpha/beta OMIM:252500 OMIM @@ -81123,11 +78570,8 @@ MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:h MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy ullrich congenital muscular dystrophy OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 updated Ullrich congenital muscular dystrophy OMIM:254090 OMIM MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich disease Ullrich disease ullrich disease OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 updated Ullrich disease OMIM:254090 OMIM MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Scleroatonic muscular dystrophy, Scleroatonic muscular dystrophy, scleroatonic OMIM:254090 ullrich congenital muscular dystrophy 1a OMIM:254090 updated muscular dystrophy, Scleroatonic OMIM:254090 OMIM -MONDO:0009681 Ullrich congenital muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym Ullrich congenital muscular dystrophy OMIMPS:254090 Ullrich congenital muscular dystrophy OMIM:254090 updated Ullrich congenital muscular dystrophy OMIMPS:254090 OMIM MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Hutterite type muscular dystrophy, Hutterite type muscular dystrophy, hutterite type OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110 updated muscular dystrophy, Hutterite type OMIM:254110 OMIM MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2H muscular dystrophy, limb-girdle, type 2h OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM:254110, MONDO:Lexical updated muscular dystrophy, limb-girdle, type 2H OMIM:254110 OMIM -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130, MONDO:Lexical updated Miyoshi muscular dystrophy 1 OMIM:254130 OMIM -MONDO:0009685 Miyoshi myopathy oio:hasExactSynonym oio:hasNarrowSynonym MMD1 OMIM:254130 miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:254130 updated MMD1 OMIM:254130 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009688 myasthenia gravis oio:hasExactSynonym oio:hasRelatedSynonym MG OMIM:254200 myasthenia gravis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254200, MONDO:Lexical updated MG OMIM:254200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS Ia2, formerly CMS Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759 updated CMS Ia2, formerly OMIM:254210 OMIM MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ia2, formerly Cms Ia2, formerly cms ia2, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 updated Cms Ia2, formerly OMIM:254210 OMIM @@ -81136,22 +78580,15 @@ MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelate MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, familial infantile, formerly OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, MESH:C535759 updated myasthenia, familial infantile, formerly OMIM:254210 OMIM MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic MESH:C535759, OMIM:254210, MONDO:Lexical updated myasthenic syndrome, congenital, 6, presynaptic OMIM:254210 OMIM MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic OMIM:254210, GARD:0009689, MESH:C535759 updated myasthenic syndrome, presynaptic, congenital, associated with episodic apnea OMIM:254210 OMIM -MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym CMS1A OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009689 updated CMS1A OMIM:601462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym Cms Ib, formerly Cms Ib, formerly cms ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 updated Cms Ib, formerly OMIM:254300 OMIM MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type IB, formerly congenital myasthenic syndrome type ib, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 updated congenital myasthenic syndrome type IB, formerly OMIM:254300 OMIM MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenia, limb-girdle, familial, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 updated myasthenia, limb-girdle, familial, formerly OMIM:254300 OMIM MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic myopathy, formerly OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300 updated myasthenic myopathy, formerly OMIM:254300 OMIM MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 10 OMIM:254300 myasthenic syndrome, congenital, 10 OMIM:254300, MONDO:Lexical updated myasthenic syndrome, congenital, 10 OMIM:254300 OMIM -MONDO:0009690 congenital myasthenic syndrome 10 oio:hasExactSynonym oio:hasRelatedSynonym CMS1B OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110668 updated CMS1B OMIM:608930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasRelatedSynonym myelofibrosis OMIM:254450 myelofibrosis OMIM:254450 updated myelofibrosis OMIM:254450 OMIM MONDO:0009694 myeloperoxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPOD OMIM:254600 myeloperoxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254600, MONDO:Lexical updated MPOD OMIM:254600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome Janz syndrome janz syndrome OMIM:254770 epilepsy, myoclonic juvenile DOID:4890, OMIM:254770 updated Janz syndrome OMIM:254770 OMIM MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym petit mal, impulsive OMIM:254770 epilepsy, myoclonic juvenile OMIM:254770 updated petit mal, impulsive OMIM:254770 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Epm2 Epm2 epm2 OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 updated Epm2 OMIM:254780 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Lafora body disease Lafora body disease lafora body disease OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 updated Lafora body disease OMIM:254780 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym Melf Melf melf OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 updated Melf OMIM:254780 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2a OMIM:254780 myoclonic epilepsy of lafora 1 OMIM:254780 updated epilepsy, progressive myoclonic, 2A OMIM:254780 OMIM -MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2B epilepsy, progressive myoclonic, 2b OMIM:620681 myoclonic epilepsy of lafora 2 OMIM:254780 updated epilepsy, progressive myoclonic, 2B OMIM:620681 OMIM MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Baltic myoclonic epilepsy Baltic myoclonic epilepsy baltic myoclonic epilepsy OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 updated Baltic myoclonic epilepsy OMIM:254800 OMIM MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Uld Uld uld OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 updated Uld OMIM:254800 OMIM MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive myoclonic, 1 OMIM:254800 myoclonic epilepsy of unverricht and lundborg OMIM:254800 updated epilepsy, progressive myoclonic, 1 OMIM:254800 OMIM @@ -81211,16 +78648,12 @@ MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 updated hypoglycemia, hyperinsulinemic, of infancy OMIM:256450 OMIM MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:256450 updated persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 OMIM MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym HHF1 OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256450, MONDO:Lexical updated HHF1 OMIM:256450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 updated hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 OMIM -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 updated hyperinsulinism, congenital OMIM:601820 OMIM -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:256450 updated persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 OMIM MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Comel-Netherton syndrome Comel-Netherton syndrome comel-netherton syndrome OMIM:256500 netherton syndrome OMIM:256500 updated Comel-Netherton syndrome OMIM:256500 OMIM MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease Netherton disease netherton disease OMIM:256500 netherton syndrome OMIM:256500 updated Netherton disease OMIM:256500 OMIM MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE erythroderma, ichthyosiform, with hypotrichosis and hyper-ige OMIM:256500 netherton syndrome OMIM:256500 updated erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE OMIM:256500 OMIM MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym NETH neth NETH OMIM:256500 netherton syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256500 updated NETH OMIM:256500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Neu-Laxova syndrome neu-laxova syndrome OMIM:256520 neu-laxova syndrome 1 OMIM:256520 updated Neu-Laxova syndrome OMIM:256520 OMIM MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym NLS1 OMIM:256520 neu-laxova syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:256520, MONDO:Lexical updated NLS1 OMIM:256520 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome OMIMPS:256520 Neu-Laxova syndrome OMIM:256520 updated Neu-Laxova syndrome OMIMPS:256520 OMIM MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym PPCA deficiency PPCA deficiency ppca deficiency OMIM:256540 galactosialidosis OMIM:256540 updated PPCA deficiency OMIM:256540 OMIM MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym cathepsin A deficiency cathepsin A deficiency cathepsin a deficiency OMIM:256540 galactosialidosis OMIM:256540 updated cathepsin A deficiency OMIM:256540 OMIM MONDO:0009737 galactosialidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal protective Protein deficiency lysosomal protective Protein deficiency lysosomal protective protein deficiency OMIM:256540 galactosialidosis OMIM:256540 updated lysosomal protective Protein deficiency OMIM:256540 OMIM @@ -81267,9 +78700,6 @@ MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym oio:hasRelatedSy MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 updated CSNB, complete, autosomal recessive OMIM:257270 OMIM MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:257270 updated night blindness, congenital stationary, complete, autosomal recessive OMIM:257270 OMIM MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1B night blindness, congenital stationary, type 1b OMIM:257270 night blindness, congenital stationary, type 1b MONDO:Lexical, OMIM:257270 updated night blindness, congenital stationary, type 1B OMIM:257270 OMIM -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:257270 updated CSNB, complete, autosomal recessive OMIM:613216 OMIM -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:257270 updated CSNB, complete, autosomal recessive OMIM:613830 OMIM -MONDO:0009758 congenital stationary night blindness 1B oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:257270 updated CSNB, complete, autosomal recessive OMIM:614565 OMIM MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MOSAIC variegated aneuploidy syndrome 1 MOSAIC variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome 1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 updated MOSAIC variegated aneuploidy syndrome 1 OMIM:257300 OMIM MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA syndrome MVA syndrome mva syndrome OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:257300 updated MVA syndrome OMIM:257300 OMIM MONDO:0009759 mosaic variegated aneuploidy syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MVA1 OMIM:257300 mosaic variegated aneuploidy syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257300 updated MVA1 OMIM:257300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -81294,7 +78724,6 @@ MONDO:0009770 3MC syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3MC1 OM MONDO:0009771 oculotrichodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OTD OMIM:257960 oculotrichodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:257960 updated OTD OMIM:257960 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome ORC syndrome orc syndrome OMIM:257970 oculorenocerebellar syndrome OMIM:257970 updated ORC syndrome OMIM:257970 OMIM MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym odontoonychodermal dysplasia OMIM:257980 odontoonychodermal dysplasia MONDO:Lexical, OMIM:257980 updated odontoonychodermal dysplasia OMIM:257980 OMIM -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia OMIMPS:305100 Ectodermal dysplasia (select examples) OMIM:257980 updated ectodermal dysplasia OMIMPS:305100 OMIM MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym Oguchi disease 1 Oguchi disease 1 oguchi disease 1 OMIM:258100 oguchi disease 1 OMIM:258100 updated Oguchi disease 1 OMIM:258100 OMIM MONDO:0009775 Oguchi disease-1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, Oguchi type 1 night blindness, congenital stationary, oguchi type 1 OMIM:258100 oguchi disease 1 OMIM:258100 updated night blindness, congenital stationary, Oguchi type 1 OMIM:258100 OMIM MONDO:0009776 spermatogenic failure 1 oio:hasExactSynonym oio:hasRelatedSynonym Oligochiasmatic infertility Oligochiasmatic infertility oligochiasmatic infertility OMIM:258150 spermatogenic failure 1 OMIM:258150 updated Oligochiasmatic infertility OMIM:258150 OMIM @@ -81368,7 +78797,6 @@ MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy oio:hasExactSy MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis syndrome, recessive OMIM:259610 osteolysis syndrome, recessive OMIM:259610 updated osteolysis syndrome, recessive OMIM:259610 OMIM MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:259610 updated osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance OMIM:259610 OMIM MONDO:0009810 autosomal recessive distal osteolysis syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 osteolysis syndrome, recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED GARD:0004144 updated osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance OMIM:259610 OMIM -MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym osteomyelitis, chronic multifocal OMIM:259680 chronic recurrent multifocal osteomyelitis 3 OMIM:259680 updated osteomyelitis, chronic multifocal OMIM:259680 OMIM MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteopenia and sparse hair OMIM:259690 osteopenia and sparse hair OMIM:259690 updated osteopenia and sparse hair OMIM:259690 OMIM MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym Albers-Schonberg disease, autosomal recessive Albers-Schonberg disease, autosomal recessive albers-schonberg disease, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 updated Albers-Schonberg disease, autosomal recessive OMIM:259700 OMIM MONDO:0009815 autosomal recessive osteopetrosis 1 oio:hasExactSynonym oio:hasRelatedSynonym marble bones, autosomal recessive OMIM:259700 osteopetrosis, autosomal recessive 1 OMIM:259700 updated marble bones, autosomal recessive OMIM:259700 OMIM @@ -81400,10 +78828,6 @@ MONDO:0009826 PA polymorphism of alpha-2-globulin oio:hasExactSynonym oio:hasRel MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 15, autosomal recessive early-onset Parkinson disease 15, autosomal recessive early-onset parkinson disease 15, autosomal recessive early-onset OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300, MONDO:Lexical updated Parkinson disease 15, autosomal recessive early-onset OMIM:260300 OMIM MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym pallido-pyramidal syndrome OMIM:260300 parkinson disease 15, autosomal recessive early-onset OMIM:260300 updated pallido-pyramidal syndrome OMIM:260300 OMIM MONDO:0009830 parkinsonian-pyramidal syndrome oio:hasExactSynonym oio:hasRelatedSynonym PARK15 OMIM:260300 parkinson disease 15, autosomal recessive early-onset http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260300, MONDO:Lexical updated PARK15 OMIM:260300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym pancreatic agenesis 1 OMIM:260370 pancreatic agenesis 1 OMIM:260370, MONDO:Lexical updated pancreatic agenesis 1 OMIM:260370 OMIM -MONDO:0009832 pancreatic agenesis oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:260370 updated PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated Shwachman-Bodian syndrome OMIM:260400 OMIM -MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated lipomatosis of pancreas, congenital OMIM:260400 OMIM MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym panencephalitis, SUBACUTE sclerosing panencephalitis, SUBACUTE sclerosing panencephalitis, subacute sclerosing OMIM:260470 subacute sclerosing panencephalitis OMIM:260470 updated panencephalitis, SUBACUTE sclerosing OMIM:260470 OMIM MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus OMIM:260500 papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 updated papilloma of choroid plexus OMIM:260500 OMIM MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP OMIM:260500 papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical updated CPP OMIM:260500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -81411,7 +78835,6 @@ MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome oio:hasExactS MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile Cerebellooptic atrophy infantile Cerebellooptic atrophy infantile cerebellooptic atrophy OMIM:260565 peho syndrome OMIM:260565 updated infantile Cerebellooptic atrophy OMIM:260565 OMIM MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 peho syndrome OMIM:260565 updated progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy OMIM:260565 OMIM MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHO peho PEHO OMIM:260565 peho syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260565 updated PEHO OMIM:260565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome OMIM:617507 peho-like syndrome OMIM:260565 updated peho-like syndrome OMIM:617507 OMIM MONDO:0009843 hypomyelinating leukodystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 3 OMIM:260600 leukodystrophy, hypomyelinating, 3 OMIM:260600, MONDO:Lexical updated leukodystrophy, hypomyelinating, 3 OMIM:260600 OMIM MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome cousin syndrome OMIM:260660 cousin syndrome OMIM:260660 updated COUSIN syndrome OMIM:260660 OMIM MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 cousin syndrome OMIM:260660 updated craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature OMIM:260660 OMIM @@ -81426,7 +78849,6 @@ MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSyno MONDO:0009850 periodontitis, chronic, adult oio:hasExactSynonym oio:hasBroadSynonym periodontitis, chronic OMIM:260950 periodontitis, chronic OMIM:260950 updated periodontitis, chronic OMIM:260950 OMIM MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency OMIM:261000 intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 updated intrinsic factor deficiency OMIM:261000 OMIM MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasRelatedSynonym pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious Anemia, congenital, due to defect of intrinsic Factor pernicious anemia, congenital, due to defect of intrinsic factor OMIM:261000 intrinsic factor deficiency OMIM:261000 updated pernicious Anemia, congenital, due to defect of intrinsic Factor OMIM:261000 OMIM -MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym oio:hasRelatedSynonym enterocyte cobalamin malabsorption OMIM:261100 imerslund-grasbeck syndrome 1 OMIM:261100 updated enterocyte cobalamin malabsorption OMIM:261100 OMIM MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 updated 17-beta-hydroxysteroid dehydrogenase 4 deficiency OMIM:261515 OMIM MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym DBP deficiency DBP deficiency dbp deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 updated DBP deficiency OMIM:261515 OMIM MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym Pbfe deficiency Pbfe deficiency pbfe deficiency OMIM:261515 d-bifunctional protein deficiency OMIM:261515 updated Pbfe deficiency OMIM:261515 OMIM @@ -81620,7 +79042,6 @@ MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia and retinal aplasia OMIM:266900 senior-loken syndrome 1 OMIM:266900 updated renal dysplasia and retinal aplasia OMIM:266900 OMIM MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal-retinal syndrome OMIM:266900 senior-loken syndrome 1 OMIM:266900 updated renal-retinal syndrome OMIM:266900 OMIM MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SLSN1 OMIM:266900 senior-loken syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:266900, MONDO:Lexical updated SLSN1 OMIM:266900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0009962 Senior-Loken syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Senior-Loken syndrome OMIMPS:266900 Senior-Loken syndrome OMIM:266900 updated Senior-Loken syndrome OMIMPS:266900 OMIM MONDO:0009963 Ulbright-Hodes syndrome oio:hasExactSynonym oio:hasRelatedSynonym RL syndrome RL syndrome rl syndrome OMIM:266910 renal dysplasia-limb defects syndrome OMIM:266910 updated RL syndrome OMIM:266910 OMIM MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920 updated renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia OMIM:266920 OMIM MONDO:0009965 Perlman syndrome oio:hasExactSynonym oio:hasRelatedSynonym nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor OMIM:267000 perlman syndrome OMIM:267000 updated nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor OMIM:267000 OMIM @@ -81647,7 +79068,6 @@ MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSyn MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700, MONDO:Lexical updated hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 OMIM MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic reticulosis, familial OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 updated hemophagocytic reticulosis, familial OMIM:267700 OMIM MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym reticulosis, familial histiocytic OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 OMIM:267700 updated reticulosis, familial histiocytic OMIM:267700 OMIM -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial OMIM:267700 updated hemophagocytic lymphohistiocytosis, familial OMIMPS:267700 OMIM MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 updated retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma OMIM:267760 OMIM MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 updated insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 OMIM MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:268020 updated retinitis pigmentosa, deafness, mental retardation, and hypogonadism OMIM:268020 OMIM @@ -81674,10 +79094,8 @@ MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRe MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym costovertebral segmentation defect with mesomelia, formerly OMIM:268310 robinow syndrome, autosomal recessive 1 OMIM:268310 updated costovertebral segmentation defect with mesomelia, formerly OMIM:268310 OMIM MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym RODRIGUES blindness RODRIGUES blindness rodrigues blindness OMIM:268320 rodrigues blindness OMIM:268320 updated RODRIGUES blindness OMIM:268320 OMIM MONDO:0010001 ectodermal dysplasia-blindness syndrome oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 rodrigues blindness OMIM:268320 updated microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities OMIM:268320 OMIM -MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:268400 updated poikiloderma atrophicans and cataract OMIM:618625 OMIM MONDO:0010003 Rowley-Rosenberg syndrome oio:hasExactSynonym oio:hasRelatedSynonym Growth retardation, pulmonary hypertension, and amino aciduria Growth retardation, pulmonary hypertension, and amino aciduria growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 rowley-rosenberg syndrome OMIM:268500 updated Growth retardation, pulmonary hypertension, and amino aciduria OMIM:268500 OMIM MONDO:0010004 EEC syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUDIGER syndrome RUDIGER syndrome rudiger syndrome OMIM:268650 rudiger syndrome OMIM:268650 updated RUDIGER syndrome OMIM:268650 OMIM -MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 hyperlysinemia, type 1 OMIM:268700 updated Alpha-aminoadipic semialdehyde synthase deficiency OMIM:238700 OMIM MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym Alpha-aminoadipic semialdehyde synthase deficiency Alpha-aminoadipic semialdehyde synthase deficiency alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 saccharopinuria OMIM:268700 updated Alpha-aminoadipic semialdehyde synthase deficiency OMIM:268700 OMIM MONDO:0010005 saccharopinuria oio:hasExactSynonym oio:hasRelatedSynonym hyperlysinemia, type 2 OMIM:268700 saccharopinuria OMIM:268700 updated hyperlysinemia, type 2 OMIM:268700 OMIM MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, type 2 GM2-gangliosidosis, type 2 gm2-gangliosidosis, type 2 OMIM:268800 sandhoff disease OMIM:268800 updated GM2-gangliosidosis, type 2 OMIM:268800 OMIM @@ -81690,7 +79108,6 @@ MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARDH defic MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym hypersarcosinemia OMIM:268900 sarcosinemia OMIM:268900 updated hypersarcosinemia OMIM:268900 OMIM MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency OMIM:268900 sarcosinemia OMIM:268900, Orphanet:3129 updated sarcosine dehydrogenase complex deficiency OMIM:268900 OMIM MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym SARCOS OMIM:268900 sarcosinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268900, MONDO:Lexical updated SARCOS OMIM:268900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS OMIM:182212 shprintzen-goldberg craniosynostosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 updated SGS OMIM:182212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Schinzel-Giedion midface retraction syndrome Schinzel-Giedion midface retraction syndrome schinzel-giedion midface retraction syndrome OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 updated Schinzel-Giedion midface retraction syndrome OMIM:269150 OMIM MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgs Sgs sgs OMIM:269150 schinzel-giedion midface retraction syndrome OMIM:269150 updated Sgs OMIM:269150 OMIM MONDO:0010012 autoimmune polyendocrinopathy type 2 oio:hasExactSynonym oio:hasRelatedSynonym APS 2 APS 2 aps 2 OMIM:269200 autoimmune polyendocrine syndrome, type 2 OMIM:269200 updated APS 2 OMIM:269200 OMIM @@ -81782,7 +79199,6 @@ MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:h MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 updated spinocerebellar ataxia, infantile, with sensory neuropathy OMIM:271245 OMIM MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, infantile-onset OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM:271245 updated spinocerebellar ataxia, infantile-onset OMIM:271245 OMIM MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym MTDPS7 OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:271245, MONDO:Lexical updated MTDPS7 OMIM:271245 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 8 OMIM:608768 spinocerebellar ataxia 8 OMIM:271245 updated spinocerebellar ataxia 8 OMIM:608768 OMIM MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with blindness and deafness OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 updated spinocerebellar ataxia with blindness and deafness OMIM:271250 OMIM MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 OMIM:271250, MONDO:Lexical updated spinocerebellar ataxia, autosomal recessive 3 OMIM:271250 OMIM MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with dysmorphism OMIM:271270 spinocerebellar ataxia with dysmorphism OMIM:271270 updated spinocerebellar ataxia with dysmorphism OMIM:271270 OMIM @@ -81863,7 +79279,6 @@ MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 updated teeth, congenital absence of, with taurodontia and sparse hair OMIM:272980 OMIM MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym oio:hasRelatedSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 updated teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050 OMIM MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym Male germ cell tumor Male germ cell tumor male germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:273300 updated Male germ cell tumor OMIM:273300 OMIM -MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym TETRAAMELIA syndrome, autosomal recessive TETRAAMELIA syndrome, autosomal recessive tetraamelia syndrome, autosomal recessive OMIM:273395 tetraamelia syndrome 1 MONDO:Lexical, OMIM:273395 updated TETRAAMELIA syndrome, autosomal recessive OMIM:273395 OMIM MONDO:0010114 thanatophoric dysplasia, Glasgow variant oio:hasExactSynonym oio:hasRelatedSynonym neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, Glasgow type neonatally lethal short-limb skeletal dysplasia, glasgow type OMIM:273680 thanatophoric dysplasia, glasgow variant OMIM:273680 updated neonatally lethal short-limb skeletal dysplasia, Glasgow type OMIM:273680 OMIM MONDO:0010116 thoracomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym 'thoraco-limb' dysplasia OMIM:273740 thoracomelic dysplasia OMIM:273740 updated 'thoraco-limb' dysplasia OMIM:273740 OMIM MONDO:0010117 3M syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome 3M syndrome 3m syndrome OMIM:273750 three m syndrome 1 OMIM:273750 updated 3M syndrome OMIM:273750 OMIM @@ -81890,8 +79305,6 @@ MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dpyd deficiency Dpyd deficiency dpyd deficiency OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 updated Dpyd deficiency OMIM:274270 OMIM MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyrimidinemia, familial OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 updated pyrimidinemia, familial OMIM:274270 OMIM MONDO:0010130 dihydropyrimidine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thymine-Uraciluria, hereditary thymine-Uraciluria, hereditary thymine-uraciluria, hereditary OMIM:274270 dihydropyrimidine dehydrogenase deficiency OMIM:274270 updated thymine-Uraciluria, hereditary OMIM:274270 OMIM -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 updated Gthr OMIM:188570 OMIM -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant OMIM:274300 updated thyroid hormone unresponsiveness OMIM:188570 OMIM MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Gthr Gthr gthr OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 updated Gthr OMIM:274300 OMIM MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Refetoff syndrome Refetoff syndrome refetoff syndrome OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300, GARD:0000301 updated Refetoff syndrome OMIM:274300 OMIM MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym thyroid hormone unresponsiveness OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive OMIM:274300 updated thyroid hormone unresponsiveness OMIM:274300 OMIM @@ -81908,14 +79321,12 @@ MONDO:0010139 isolated thyroid-stimulating hormone deficiency oio:hasExactSynony MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym TRH deficiency TRH deficiency trh deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 updated TRH deficiency OMIM:275120 OMIM MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym hypothalamic hypothyroidism OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 updated hypothalamic hypothyroidism OMIM:275120 OMIM MONDO:0010140 isolated thyrotropin-releasing hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin-releasing hormone deficiency OMIM:275120 thyrotropin-releasing hormone deficiency OMIM:275120 updated thyrotropin-releasing hormone deficiency OMIM:275120 OMIM -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:275200 updated thyrotropin resistance OMIM:218700 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 updated hypothyroidism due to unresponsiveness to thyrotropin OMIM:275200 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, Nonautoimmune hypothyroidism, Nonautoimmune hypothyroidism, nonautoimmune OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 updated hypothyroidism, Nonautoimmune OMIM:275200 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, due to tsh resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 updated hypothyroidism, congenital, due to TSH resistance OMIM:275200 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200, MONDO:Lexical updated hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyroid-stimulating hormone, resistance to OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 updated thyroid-stimulating hormone, resistance to OMIM:275200 OMIM MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:275200 updated thyrotropin resistance OMIM:275200 OMIM -MONDO:0010142 hypothyroidism due to TSH receptor mutations oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:275200 updated thyrotropin resistance OMIM:609893 OMIM MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym Thm Thm thm OMIM:275220 tibial hemimelia OMIM:275220 updated Thm OMIM:275220 OMIM MONDO:0010144 tibial hemimelia oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence of OMIM:275220 tibial hemimelia OMIM:275220 updated tibia, absence of OMIM:275220 OMIM MONDO:0010146 Kerion celsi oio:hasExactSynonym oio:hasRelatedSynonym TINEA imbricata, susceptibility to TINEA imbricata, susceptibility to tinea imbricata, susceptibility to OMIM:275240 tinea imbricata, susceptibility to OMIM:275240 updated TINEA imbricata, susceptibility to OMIM:275240 OMIM @@ -81942,7 +79353,6 @@ MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelat MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Turcot syndrome Turcot syndrome turcot syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 updated Turcot syndrome OMIM:276300 OMIM MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym childhood cancer syndrome OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 updated childhood cancer syndrome OMIM:276300 OMIM MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair deficiency OMIM:276300 mismatch repair cancer syndrome 1 OMIM:276300 updated mismatch repair deficiency OMIM:276300 OMIM -MONDO:0010159 mismatch repair cancer syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mismatch repair cancer syndrome mismatch repair cancer syndrome Mismatch repair cancer syndrome OMIMPS:276300 Mismatch repair cancer syndrome OMIM:276300, MONDO:Lexical updated mismatch repair cancer syndrome OMIMPS:276300 OMIM MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Oregon type tyrosinemia Oregon type tyrosinemia oregon type tyrosinemia OMIM:276600 tyrosinemia, type 2 OMIM:276600 updated Oregon type tyrosinemia OMIM:276600 OMIM MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tat deficiency Tat deficiency tat deficiency OMIM:276600 tyrosinemia, type 2 OMIM:276600 updated Tat deficiency OMIM:276600 OMIM MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym Tyrosinosis, oculocutaneous type Tyrosinosis, oculocutaneous type tyrosinosis, oculocutaneous type OMIM:276600 tyrosinemia, type 2 OMIM:276600 updated Tyrosinosis, oculocutaneous type OMIM:276600 OMIM @@ -81989,7 +79399,6 @@ MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelated MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of OMIM:277180 vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 updated vas deferens, congenital bilateral aplasia of OMIM:277180 OMIM MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CAVD CAVD cavd OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180 updated CAVD OMIM:277180 OMIM MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasRelatedSynonym CBAVD OMIM:277180 vas deferens, congenital bilateral aplasia of http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277180, MONDO:Lexical updated CBAVD OMIM:277180 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation oio:hasExactSynonym oio:hasBroadSynonym vas deferens, congenital bilateral aplasia of vas deferens, congenital bilateral aplasia of Vas deferens, congenital bilateral aplasia of OMIMPS:277180 Vas deferens, congenital bilateral aplasia of MONDO:Lexical, OMIM:277180 updated vas deferens, congenital bilateral aplasia of OMIMPS:277180 OMIM MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Irvh Irvh irvh OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 updated Irvh OMIM:277200 OMIM MONDO:0010179 isolated right ventricular hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym right ventricular hypoplasia, isolated OMIM:277200 right ventricular hypoplasia, isolated OMIM:277200 updated right ventricular hypoplasia, isolated OMIM:277200 OMIM MONDO:0010181 oculogastrointestinal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia OMIM:277320 updated intestinal pseudoobstruction with external ophthalmoplegia OMIM:277320 OMIM @@ -82052,8 +79461,6 @@ MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 updated mesodermal Dysmorphodystrophy, congenital OMIM:277600 OMIM MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:277600 updated spherophakia-brachymorphia syndrome OMIM:277600 OMIM MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WMS1 OMIM:277600 weill-marchesani syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:277600 updated WMS1 OMIM:277600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 updated mesodermal Dysmorphodystrophy, congenital OMIM:608328 OMIM -MONDO:0010194 Weill-Marchesani syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:277600 updated spherophakia-brachymorphia syndrome OMIM:608328 OMIM MONDO:0010196 Werner syndrome oio:hasExactSynonym oio:hasRelatedSynonym WRN OMIM:277700 werner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:277700, MONDO:Lexical updated WRN OMIM:277700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-induced encephalopathy OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 updated alcohol-induced encephalopathy OMIM:277730 OMIM MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym transketolase defect OMIM:277730 wernicke-korsakoff syndrome OMIM:277730 updated transketolase defect OMIM:277730 OMIM @@ -82187,7 +79594,6 @@ MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym o MONDO:0010270 syndromic X-linked intellectual disability 7 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 7 mental retardation, X-linked, syndromic 7 mental retardation, x-linked, syndromic 7 OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300218, MONDO:Lexical updated mental retardation, X-linked, syndromic 7 OMIM:300218 OMIM MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome oio:hasExactSynonym oio:hasRelatedSynonym myotubular myopathy with abnormal genital development OMIM:300219 myotubular myopathy with abnormal genital development OMIM:300219 updated myotubular myopathy with abnormal genital development OMIM:300219 OMIM MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease, X-linked Pseudoautosomal Hodgkin disease, X-linked Pseudoautosomal hodgkin disease, X-linked pseudoautosomal OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal OMIM:300221 updated Hodgkin disease, X-linked Pseudoautosomal OMIM:300221 OMIM -MONDO:0010274 testicular germ cell tumor 1 oio:hasExactSynonym oio:hasBroadSynonym testicular germ cell tumor OMIM:273300 testicular germ cell tumor OMIM:genemap2, OMIM:300228 updated testicular germ cell tumor OMIM:273300 OMIM MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, X-linked, with mental deterioration SEMD, X-linked, with mental deterioration semd, x-linked, with mental deterioration OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy OMIM:300232 updated SEMD, X-linked, with mental deterioration OMIM:300232 OMIM MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy MONDO:Lexical, OMIM:300660 updated leukoencephalopathy with metaphyseal chondrodysplasia OMIM:300232 OMIM MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, Shashi type mental retardation, X-linked, Shashi type mental retardation, x-linked, shashi type OMIM:300238 intellectual developmental disorder, x-linked, syndromic, shashi type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300238 updated mental retardation, X-linked, Shashi type OMIM:300238 OMIM @@ -82219,9 +79625,6 @@ MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oi MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome uruguay faciocardiomusculoskeletal syndrome OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 updated URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome OMIM:300280 OMIM MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, Uruguay type faciocardiomusculoskeletal syndrome, uruguay type OMIM:300280 uruguay faciocardiomusculoskeletal syndrome OMIM:300280 updated faciocardiomusculoskeletal syndrome, Uruguay type OMIM:300280 OMIM MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCMSU OMIM:300280 uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300280 updated FCMSU OMIM:300280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 updated ectodermal dysplasia, anhidrotic, with immune deficiency OMIM:300291 OMIM -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 updated ectodermal dysplasia, hypohidrotic, with immune deficiency OMIM:300291 OMIM -MONDO:0010293 ectodermal dysplasia and immune deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 ectodermal dysplasia and immunodeficiency 1 OMIM:300291 updated hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM:300291 OMIM MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym Xln Xln xln OMIM:300299 neutropenia, severe congenital, X-linked OMIM:300299 updated Xln OMIM:300299 OMIM MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym neutropenia, severe congenital, X-linked OMIM:300299 neutropenia, severe congenital, X-linked MONDO:Lexical, OMIM:300299 updated neutropenia, severe congenital, X-linked OMIM:300299 OMIM MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:hasRelatedSynonym SCNX OMIM:300299 neutropenia, severe congenital, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300299, MONDO:Lexical updated SCNX OMIM:300299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -82354,8 +79757,6 @@ MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym marke MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked mental retardation and macroorchidism OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 updated X-linked mental retardation and macroorchidism OMIM:300624 OMIM MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 mental retardation syndrome OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 updated fragile 10 mental retardation syndrome OMIM:300624 OMIM MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, associated with Marxq28 mental retardation, X-linked, associated with Marxq28 mental retardation, x-linked, associated with marxq28 OMIM:300624 fragile 10 syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300624 updated mental retardation, X-linked, associated with Marxq28 OMIM:300624 OMIM -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym fragile 10 premature ovarian failure OMIM:311360 premature ovarian failure 1 OMIM:300624 updated fragile 10 premature ovarian failure OMIM:311360 OMIM -MONDO:0010383 fragile X syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile X-associated primary ovarian insufficiency, fragile x-associated OMIM:311360 premature ovarian failure 1 OMIM:300624 updated primary ovarian insufficiency, fragile X-associated OMIM:311360 OMIM MONDO:0010384 hypospadias 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HYSP1 OMIM:300633 hypospadias 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300633 updated HYSP1 OMIM:300633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym Xiap deficiency Xiap deficiency xiap deficiency OMIM:300635 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 updated Xiap deficiency OMIM:300635 OMIM MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency oio:hasExactSynonym oio:hasRelatedSynonym lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, X-linked, 2 lymphoproliferative syndrome, x-linked, 2 OMIM:300635 lymphoproliferative syndrome, x-linked, 2 MONDO:Lexical, OMIM:300635, GARD:0010916 updated lymphoproliferative syndrome, X-linked, 2 OMIM:300635 OMIM @@ -82381,7 +79782,6 @@ MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oi MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal myopathy, X-linked dominant OMIM:300695 scapuloperoneal myopathy, X-linked dominant OMIM:300695, MONDO:Lexical updated scapuloperoneal myopathy, X-linked dominant OMIM:300695 OMIM MONDO:0010400 X-linked scapuloperoneal muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym SPM OMIM:300695 scapuloperoneal myopathy, X-linked dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300695 updated SPM OMIM:300695 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, X-linked, with postural muscle atrophy myopathy, X-linked, with postural muscle atrophy myopathy, x-linked, with postural muscle atrophy OMIM:300696 myopathy, x-linked, with postural muscle atrophy OMIM:300696, MONDO:Lexical updated myopathy, X-linked, with postural muscle atrophy OMIM:300696 OMIM -MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:300696, OMIM:genemap2 updated Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 OMIM MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 29 mental retardation, X-linked, syndromic 29 mental retardation, x-linked, syndromic 29 OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699 updated mental retardation, X-linked, syndromic 29 OMIM:300699 OMIM MONDO:0010402 syndromic X-linked intellectual disability 94 oio:hasExactSynonym oio:hasRelatedSynonym MRXSW OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300699, MONDO:Lexical updated MRXSW OMIM:300699 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSynonym albinism-deafness syndrome OMIM:300700 albinism-deafness syndrome OMIM:300700, OMIM:genemap2, MONDO:Lexical updated albinism-deafness syndrome OMIM:300700 OMIM @@ -82412,7 +79812,6 @@ MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:has MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752, MONDO:Lexical updated protoporphyria, erythropoietic, X-linked OMIM:300752 OMIM MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym protoporphyria, erythropoietic, X-linked dominant OMIM:300752 protoporphyria, erythropoietic, X-linked OMIM:300752 updated protoporphyria, erythropoietic, X-linked dominant OMIM:300752 OMIM MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLEPP OMIM:300752 protoporphyria, erythropoietic, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:300752 updated XLEPP OMIM:300752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP XLP xlp OMIM:308240 lymphoproliferative syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 updated XLP OMIM:308240 OMIM MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked OMIM:300755 agammaglobulinemia, X-linked MONDO:Lexical, OMIM:300755 updated agammaglobulinemia, X-linked OMIM:300755 OMIM MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, X-linked, type 1 agammaglobulinemia, X-linked, type 1 agammaglobulinemia, x-linked, type 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 updated agammaglobulinemia, X-linked, type 1 OMIM:300755 OMIM MONDO:0010421 Bruton-type agammaglobulinemia oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 1 OMIM:300755 agammaglobulinemia, X-linked OMIM:300755 updated immunodeficiency 1 OMIM:300755 OMIM @@ -82535,7 +79934,6 @@ MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:ha MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-thalassemia/mental retardation syndrome, X-linked ALPHA-thalassemia/mental retardation syndrome, X-linked alpha-thalassemia/mental retardation syndrome, X-linked OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 updated ALPHA-thalassemia/mental retardation syndrome, X-linked OMIM:301040 OMIM MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym Alpha-thalassemia/mental retardation syndrome, Nondeletion type Alpha-thalassemia/mental retardation syndrome, Nondeletion type alpha-thalassemia/mental retardation syndrome, nondeletion type OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:301040 updated Alpha-thalassemia/mental retardation syndrome, Nondeletion type OMIM:301040 OMIM MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATRX OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:301040 updated ATRX OMIM:301040 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:208050 arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 updated ATS OMIM:208050 OMIM MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS ATS ats OMIM:301050 alport syndrome 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 updated ATS OMIM:301050 OMIM MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, X-linked 1 OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 updated amelogenesis imperfecta, X-linked 1 OMIM:301200 OMIM MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypomaturation type, with snow-capped teeth OMIM:301200 amelogenesis imperfecta, type 1e OMIM:301200 updated amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth OMIM:301200 OMIM @@ -82602,7 +80000,6 @@ MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRe MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrodysplasia punctata, brachytelephalangic OMIM:302950 chondrodysplasia punctata 1, X-linked recessive GARD:0001296 updated chondrodysplasia punctata, brachytelephalangic OMIM:302950 OMIM MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CPXR CPXR cpxr OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0001296 updated CPXR OMIM:302950 OMIM MONDO:0010555 X-linked chondrodysplasia punctata 1 oio:hasExactSynonym oio:hasRelatedSynonym CDPX1 OMIM:302950 chondrodysplasia punctata 1, X-linked recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, GARD:0001296, OMIM:302950 updated CDPX1 OMIM:302950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:303100 updated choroidal sclerosis OMIM:215500 OMIM MONDO:0010557 choroideremia oio:hasExactSynonym oio:hasRelatedSynonym Tapetochoroidal dystrophy, progressive Tapetochoroidal dystrophy, progressive tapetochoroidal dystrophy, progressive OMIM:303100 choroideremia OMIM:303100 updated Tapetochoroidal dystrophy, progressive OMIM:303100 OMIM MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq21 deletion syndrome chromosome Xq21 deletion syndrome chromosome xq21 deletion syndrome OMIM:303110 chromosome xq21 deletion syndrome OMIM:303110 updated chromosome Xq21 deletion syndrome OMIM:303110 OMIM MONDO:0010558 choroideremia-deafness-obesity syndrome oio:hasExactSynonym oio:hasRelatedSynonym choroideremia, deafness, and mental retardation OMIM:303110 chromosome xq21 deletion syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:303110 updated choroideremia, deafness, and mental retardation OMIM:303110 OMIM @@ -82630,7 +80027,6 @@ MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelate MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym faciopalatoosseous syndrome OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 updated faciopalatoosseous syndrome OMIM:304120 OMIM MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym otopalatodigital syndrome, type 2 OMIM:304120 otopalatodigital syndrome, type 2 OMIM:304120 updated otopalatodigital syndrome, type 2 OMIM:304120 OMIM MONDO:0010571 otopalatodigital syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym OPD2 OMIM:304120 otopalatodigital syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:304120 updated OPD2 OMIM:304120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym OHS OHS ohs OMIM:185000 overhydrated hereditary stomatocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304150, MONDO:Lexical updated OHS OMIM:185000 OMIM MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS IX, formerly EDS IX, formerly eds ix, formerly OMIM:304150 occipital horn syndrome OMIM:304150 updated EDS IX, formerly OMIM:304150 OMIM MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym EDS9, formerly EDS9, formerly eds9, formerly OMIM:304150 occipital horn syndrome OMIM:304150 updated EDS9, formerly OMIM:304150 OMIM MONDO:0010572 occipital horn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, occipital horn type, formerly Ehlers-Danlos syndrome, occipital horn type, formerly ehlers-danlos syndrome, occipital horn type, formerly OMIM:304150 occipital horn syndrome OMIM:304150 updated Ehlers-Danlos syndrome, occipital horn type, formerly OMIM:304150 OMIM @@ -82680,7 +80076,6 @@ MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:ha MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Fevr, X-linked Fevr, X-linked fevr, X-linked OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 updated Fevr, X-linked OMIM:305390 OMIM MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym exudative vitreoretinopathy, familial, 2 OMIM:305390 exudative vitreoretinopathy 2, X-linked OMIM:305390 updated exudative vitreoretinopathy, familial, 2 OMIM:305390 OMIM MONDO:0010588 exudative vitreoretinopathy 2, X-linked oio:hasExactSynonym oio:hasRelatedSynonym EVR2 OMIM:305390 exudative vitreoretinopathy 2, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305390, MONDO:Lexical updated EVR2 OMIM:305390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-like syndrome Aarskog-like syndrome aarskog-like syndrome OMIM:227330 faciodigitogenital syndrome, autosomal recessive MESH:C535331 updated Aarskog-like syndrome OMIM:227330 OMIM MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym Aarskog-Scott syndrome Aarskog-Scott syndrome aarskog-scott syndrome OMIM:305400 aarskog-scott syndrome OMIM:305400, MESH:C535331, MONDO:Lexical updated Aarskog-Scott syndrome OMIM:305400 OMIM MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciodigitogenital syndrome OMIM:305400 aarskog-scott syndrome MESH:C535331, OMIM:305400, Orphanet:915 updated faciodigitogenital syndrome OMIM:305400 OMIM MONDO:0010589 Aarskog-Scott syndrome, X-linked oio:hasExactSynonym oio:hasBroadSynonym faciogenital dysplasia OMIM:305400 aarskog-scott syndrome Orphanet:915, MESH:C535331, OMIM:305400 updated faciogenital dysplasia OMIM:305400 OMIM @@ -82690,10 +80085,8 @@ MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Keller syn MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Opitz-Kaveggia syndrome opitz-kaveggia syndrome OMIM:305450 opitz-kaveggia syndrome MONDO:Lexical, OMIM:305450 updated Opitz-Kaveggia syndrome OMIM:305450 OMIM MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:305450 updated mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum OMIM:305450 OMIM MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OKS OMIM:305450 opitz-kaveggia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305450, MONDO:Lexical updated OKS OMIM:305450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome OMIMPS:305450 FG syndrome OMIM:305450 updated FG syndrome OMIMPS:305450 OMIM MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym Fodh Fodh fodh OMIM:305600 focal dermal hypoplasia OMIM:305600 updated Fodh OMIM:305600 OMIM MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 updated FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010592 focal dermal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:305600 updated FDH OMIM:615999 OMIM MONDO:0010596 membranoproliferative glomerulonephritis, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Mesangiocapillary glomerulonephritis, X-linked Mesangiocapillary glomerulonephritis, X-linked mesangiocapillary glomerulonephritis, X-linked OMIM:305800 membranoproliferative glomerulonephritis, X-linked OMIM:305800 updated Mesangiocapillary glomerulonephritis, X-linked OMIM:305800 OMIM MONDO:0010597 glutamyl ribose-5-phosphate storage disease oio:hasExactSynonym oio:hasRelatedSynonym ADP-ribose Protein hydrolase deficiency ADP-ribose Protein hydrolase deficiency adp-ribose protein hydrolase deficiency OMIM:305920 glutamyl ribose-5-phosphate storage disease OMIM:305920 updated ADP-ribose Protein hydrolase deficiency OMIM:305920 OMIM MONDO:0010598 glycogen storage disease IXa1 oio:hasExactSynonym oio:hasRelatedSynonym GSD VIII, formerly GSD VIII, formerly gsd viii, formerly OMIM:306000 glycogen storage disease ixa1 OMIM:306000 updated GSD VIII, formerly OMIM:306000 OMIM @@ -82714,7 +80107,6 @@ MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelat MONDO:0010607 heterotaxy, visceral, 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym HTX1 OMIM:306955 heterotaxy, visceral, 1, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:306955, MONDO:Lexical updated HTX1 OMIM:306955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010608 Hhhh syndrome oio:hasExactSynonym oio:hasRelatedSynonym hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome hereditary hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 hhhh syndrome OMIM:306960 updated hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome OMIM:306960 OMIM MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome oio:hasExactSynonym oio:hasRelatedSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 microhydranencephaly, X-linked OMIM:306990 updated holoprosencephaly with fetal akinesia/hypokinesia sequence OMIM:306990 OMIM -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000, MONDO:Lexical updated hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:236635 OMIM MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym aqueductal stenosis, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 updated aqueductal stenosis, X-linked OMIM:307000 OMIM MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus due to congenital stenosis of aqueduct of sylvius OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000, MONDO:Lexical updated hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM:307000 OMIM MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym oio:hasRelatedSynonym hydrocephalus, X-linked OMIM:307000 hydrocephalus, congenital, X-linked OMIM:307000 updated hydrocephalus, X-linked OMIM:307000 OMIM @@ -82725,7 +80117,6 @@ MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelat MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GK1 deficiency GK1 deficiency gk1 deficiency OMIM:307030 glycerol kinase deficiency OMIM:307030 updated GK1 deficiency OMIM:307030 OMIM MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia OMIM:307030 glycerol kinase deficiency OMIM:307030 updated hyperglycerolemia OMIM:307030 OMIM MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym GKD OMIM:307030 glycerol kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:307030 updated GKD OMIM:307030 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis, congenital generalized OMIM:145701 hypertrichosis universalis congenita, ambras type MONDO:Lexical, OMIM:307150 updated hypertrichosis, congenital generalized OMIM:145701 OMIM MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym Cgh Cgh cgh OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 updated Cgh OMIM:307150 OMIM MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 Interchromosomal insertion syndrome chromosome Xq27.1 Interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 OMIM:307150 updated chromosome Xq27.1 Interchromosomal insertion syndrome OMIM:307150 OMIM MONDO:0010614 X-linked congenital generalized hypertrichosis oio:hasExactSynonym oio:hasRelatedSynonym chromosome Xq27.1 interchromosomal insertion syndrome chromosome Xq27.1 interchromosomal insertion syndrome chromosome xq27.1 interchromosomal insertion syndrome OMIM:307150 hypertrichosis, congenital generalized, 2 GARD:0002863 updated chromosome Xq27.1 interchromosomal insertion syndrome OMIM:307150 OMIM @@ -82776,8 +80167,6 @@ MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactS MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX Kfsdx KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536159 updated KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked oio:hasExactSynonym oio:hasRelatedSynonym KFSDX OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308800, MONDO:Lexical updated KFSDX OMIM:308800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 updated keratosis follicularis, dwarfism, and cerebral atrophy OMIM:308830 OMIM -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis OMIM:150260 laryngeal abductor paralysis OMIM:308850 updated laryngeal abductor paralysis OMIM:150260 OMIM -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:150260 laryngeal abductor paralysis OMIM:308850 updated vocal cord dysfunction, familial OMIM:150260 OMIM MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym vocal cord dysfunction, familial OMIM:308850 laryngeal abductor paralysis, X-linked OMIM:308850 updated vocal cord dysfunction, familial OMIM:308850 OMIM MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Leber hereditary optic neuropathy, modifier of Leber hereditary optic neuropathy, modifier of leber hereditary optic neuropathy, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 updated Leber hereditary optic neuropathy, modifier of OMIM:308905 OMIM MONDO:0010640 Leber optic atrophy, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Lhon, modifier of Lhon, modifier of lhon, modifier of OMIM:308905 leber hereditary optic neuropathy, modifier of OMIM:308905 updated Lhon, modifier of OMIM:308905 OMIM @@ -82789,18 +80178,10 @@ MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome oio:hasExactSynony MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ocrl1 Ocrl1 ocrl1 OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 updated Ocrl1 OMIM:309000 OMIM MONDO:0010645 oculocerebrorenal syndrome oio:hasExactSynonym oio:hasRelatedSynonym phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 lowe oculocerebrorenal syndrome OMIM:309000 updated phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM:309000 OMIM MONDO:0010647 spermatogenic failure, X-linked, 2 oio:hasExactSynonym oio:hasRelatedSynonym SPGFX2 OMIM:309120 spermatogenic failure, x-linked, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309120, MONDO:Lexical updated SPGFX2 OMIM:309120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:309200 updated bipolar affective disorder OMIM:125480 OMIM MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 2 MAJOR affective disorder 2 major affective disorder 2 OMIM:309200 major affective disorder 2 OMIM:309200 updated MAJOR affective disorder 2 OMIM:309200 OMIM MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:309200 updated bipolar affective disorder OMIM:309200 OMIM MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive illness OMIM:309200 major affective disorder 2 OMIM:309200 updated manic-depressive illness OMIM:309200 OMIM MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym manic-depressive psychosis, X-linked OMIM:309200 major affective disorder 2 OMIM:309200 updated manic-depressive psychosis, X-linked OMIM:309200 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:309200 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:309200 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:309200 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:309200 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:309200 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0010648 major affective disorder 2 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:309200 updated bipolar affective disorder OMIM:612372 OMIM -MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:249300 megalocornea MONDO:Lexical, OMIM:309300 updated megalocornea OMIM:249300 OMIM MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym Mgcn Mgcn mgcn OMIM:309300 megalocornea OMIM:309300 updated Mgcn OMIM:309300 OMIM MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym megalocornea OMIM:309300 megalocornea MONDO:Lexical, OMIM:309300 updated megalocornea OMIM:309300 OMIM MONDO:0010649 isolated congenital megalocornea oio:hasExactSynonym oio:hasRelatedSynonym MGC1 OMIM:309300 megalocornea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:309300, MONDO:Lexical updated MGC1 OMIM:309300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -82833,8 +80214,6 @@ MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExa MONDO:0010661 severe X-linked intellectual disability, Gustavson type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with optic atrophy, deafness, and seizures OMIM:309555 intellectual developmental disorder, x-linked, syndromic, gustavson type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309555 updated mental retardation with optic atrophy, deafness, and seizures OMIM:309555 OMIM MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309560 updated mental retardation with spastic paraplegia and palmoplantar hyperkeratosis OMIM:309560 OMIM MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, X-linked, 1 mental retardation-hypotonic facies syndrome, x-linked, 1 OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580, MONDO:Lexical updated mental retardation-hypotonic facies syndrome, X-linked, 1 OMIM:309580 OMIM -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasNarrowSynonym Juberg-Marsidi syndrome Juberg-Marsidi syndrome juberg-marsidi syndrome OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type OMIM:309580 updated Juberg-Marsidi syndrome OMIM:309590 OMIM -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation, x-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309580 updated mental retardation, X-linked, with growth retardation, deafness, and microgenitalism OMIM:309590 OMIM MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, X-linked, syndromic, Snyder-Robinson type mental retardation, x-linked, syndromic, snyder-robinson type OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 updated mental retardation, X-linked, syndromic, Snyder-Robinson type OMIM:309583 OMIM MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExactSynonym oio:hasRelatedSynonym MRXSSR OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:309583 updated MRXSSR OMIM:309583 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010665 Wilson-Turner syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilson-TURNER X-linked mental retardation syndrome Wilson-TURNER X-linked mental retardation syndrome wilson-turner X-linked mental retardation syndrome OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner type http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309585, MONDO:Lexical updated Wilson-TURNER X-linked mental retardation syndrome OMIM:309585 OMIM @@ -82846,8 +80225,6 @@ MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSy MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym metacarpal 4-5 fusion OMIM:309630 metacarpal 4-5 fusion OMIM:309630, MONDO:Lexical updated metacarpal 4-5 fusion OMIM:309630 OMIM MONDO:0010669 syndactyly type 8 oio:hasExactSynonym oio:hasRelatedSynonym MF4 OMIM:309630 metacarpal 4-5 fusion http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309630 updated MF4 OMIM:309630 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation with spastic paraplegia OMIM:309640 mental retardation with spastic paraplegia http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:309640 updated mental retardation with spastic paraplegia OMIM:309640 OMIM -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym linear skin defects with multiple congenital anomalies 1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 OMIM:309801, GARD:0003659, MONDO:Lexical updated linear skin defects with multiple congenital anomalies 1 OMIM:309801 OMIM -MONDO:0010672 linear skin defects with multiple congenital anomalies oio:hasExactSynonym oio:hasRelatedSynonym LSDMCA1 OMIM:309801 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:309801 updated LSDMCA1 OMIM:309801 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010673 modifier, X-linked, for Neurofunctional defects oio:hasExactSynonym oio:hasRelatedSynonym Tourette syndrome, modifier of Tourette syndrome, modifier of tourette syndrome, modifier of OMIM:309840 modifier, x-linked, for neurofunctional defects OMIM:309840 updated Tourette syndrome, modifier of OMIM:309840 OMIM MONDO:0010678 muscular dystrophy, progressive Pectorodorsal oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 muscular dystrophy, progressive pectorodorsal OMIM:310095 updated muscular dystrophy, progressive, involving shoulder girdle and back OMIM:310095 OMIM MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, Duchenne type muscular dystrophy, Duchenne type muscular dystrophy, duchenne type OMIM:310200 muscular dystrophy, duchenne type MONDO:Lexical, OMIM:310200 updated muscular dystrophy, Duchenne type OMIM:310200 OMIM @@ -82910,7 +80287,6 @@ MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency Orphanet:79243 updated pyruvate decarboxylase deficiency OMIM:312170 OMIM MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase complex deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 updated pyruvate dehydrogenase Complex deficiency OMIM:312170 OMIM MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency OMIM:312170 updated pyruvate dehydrogenase E1-ALPHA deficiency OMIM:312170 OMIM -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency OMIMPS:312170 Pyruvate dehydrogenase complex deficiency OMIM:312170 updated pyruvate dehydrogenase Complex deficiency OMIMPS:312170 OMIM MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia and anogenital anomalies OMIM:312190 radial aplasia, X-linked OMIM:312190 updated radial aplasia and anogenital anomalies OMIM:312190 OMIM MONDO:0010718 absent radius-anogenital anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial aplasia, X-linked OMIM:312190 radial aplasia, X-linked OMIM:312190 updated radial aplasia, X-linked OMIM:312190 OMIM MONDO:0010719 radiation sensitivity of natural killer activity oio:hasExactSynonym oio:hasRelatedSynonym X-Ray Nk sensitivity X-Ray Nk sensitivity x-ray nk sensitivity OMIM:312210 radiation sensitivity of natural killer activity OMIM:312210 updated X-Ray Nk sensitivity OMIM:312210 OMIM @@ -82921,7 +80297,6 @@ MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym R MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym XLRS1 XLRS1 xlrs1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700 updated XLRS1 OMIM:312700 OMIM MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym RS1 OMIM:312700 retinoschisis 1, x-linked, juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312700, MONDO:Lexical updated RS1 OMIM:312700 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010726 Rett syndrome oio:hasExactSynonym oio:hasRelatedSynonym autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 rett syndrome OMIM:312750 updated autism, dementia, ataxia, and loss of purposeful hand use OMIM:312750 OMIM -MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:309510 partington syndrome OMIM:312780 updated Partington syndrome OMIM:309510 OMIM MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Partington syndrome Partington syndrome partington syndrome OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 updated Partington syndrome OMIM:312780 OMIM MONDO:0010727 Russell-silver syndrome, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Russell-Silver-like syndrome with skin pigmentation Russell-Silver-like syndrome with skin pigmentation russell-silver-like syndrome with skin pigmentation OMIM:312780 russell-silver syndrome, X-linked OMIM:312780 updated Russell-Silver-like syndrome with skin pigmentation OMIM:312780 OMIM MONDO:0010728 SCARF syndrome oio:hasExactSynonym oio:hasRelatedSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities OMIM:312830 scarf syndrome OMIM:312830 updated skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities OMIM:312830 OMIM @@ -82961,7 +80336,6 @@ MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC T MONDO:0010743 thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym THC1 OMIM:313900 thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:313900 updated THC1 OMIM:313900 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked MONDO:Lexical, OMIM:314050 updated thrombocytopenia with BETA-thalassemia, X-linked OMIM:314050 OMIM MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked OMIM:314050 updated thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis OMIM:314050 OMIM -MONDO:0010746 thumbs, congenital Clasped oio:hasExactSynonym oio:hasRelatedSynonym adducted thumbs syndrome OMIM:201550 adducted thumbs syndrome OMIM:314100 updated adducted thumbs syndrome OMIM:201550 OMIM MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia 3, torsion, X-linked OMIM:314250 dystonia 3, torsion, X-linked MONDO:Lexical, OMIM:314250 updated dystonia 3, torsion, X-linked OMIM:314250 OMIM MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym dystonia-Parkinsonism, X-linked dystonia-Parkinsonism, X-linked dystonia-parkinsonism, X-linked OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 updated dystonia-Parkinsonism, X-linked OMIM:314250 OMIM MONDO:0010747 X-linked dystonia-parkinsonism oio:hasExactSynonym oio:hasRelatedSynonym torsion dystonia-Parkinsonism, Filipino type torsion dystonia-Parkinsonism, Filipino type torsion dystonia-parkinsonism, filipino type OMIM:314250 dystonia 3, torsion, X-linked OMIM:314250 updated torsion dystonia-Parkinsonism, Filipino type OMIM:314250 OMIM @@ -83072,7 +80446,6 @@ MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynon MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym Parkinsonism, early-onset, with diurnal fluctuation Parkinsonism, early-onset, with diurnal fluctuation parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 parkinson disease 2, autosomal recessive juvenile OMIM:600116 updated Parkinsonism, early-onset, with diurnal fluctuation OMIM:600116 OMIM MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 oio:hasExactSynonym oio:hasRelatedSynonym PARK2 OMIM:600116 parkinson disease 2, autosomal recessive juvenile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600116, MONDO:Lexical updated PARK2 OMIM:600116 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym dysphasia, familial developmental OMIM:600117 dysphasia, familial developmental OMIM:600117 updated dysphasia, familial developmental OMIM:600117 OMIM -MONDO:0010821 familial developmental dysphasia oio:hasExactSynonym oio:hasRelatedSynonym specific language impairment specific language impairment Specific language impairment OMIMPS:606711 Specific language impairment GARD:0001823 updated specific language impairment OMIMPS:606711 OMIM MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym WARBURG micro syndrome 1 WARBURG micro syndrome 1 warburg micro syndrome 1 OMIM:600118 warburg micro syndrome 1 OMIM:600118 updated WARBURG micro syndrome 1 OMIM:600118 OMIM MONDO:0010822 Warburg micro syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym micro syndrome OMIM:600118 warburg micro syndrome 1 OMIM:600118 updated micro syndrome OMIM:600118 OMIM MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 oio:hasExactSynonym oio:hasBroadSynonym AGPS deficiency AGPS deficiency agps deficiency OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 DOID:0110853 updated AGPS deficiency OMIM:600121 OMIM @@ -83207,8 +80580,6 @@ MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A oio:hasExactSynony MONDO:0010917 chondrocalcinosis 1 oio:hasExactSynonym oio:hasRelatedSynonym chondrocalcinosis with early-onset osteoarthritis OMIM:600668 chondrocalcinosis 1 OMIM:600668 updated chondrocalcinosis with early-onset osteoarthritis OMIM:600668 OMIM MONDO:0010921 nasal dermoid cyst oio:hasExactSynonym oio:hasRelatedSynonym dermoid cysts, familial frontonasal OMIM:600679 dermoid cysts, familial frontonasal OMIM:600679 updated dermoid cysts, familial frontonasal OMIM:600679 OMIM MONDO:0010922 Satoyoshi syndrome oio:hasExactSynonym oio:hasRelatedSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 satoyoshi syndrome OMIM:600705 updated muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities OMIM:600705 OMIM -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 1 d-2-hydroxyglutaric aciduria 1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 OMIM:600721, MONDO:Lexical updated D-2-hydroxyglutaric aciduria 1 OMIM:600721 OMIM -MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym D2HGA D2HGA d2hga OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600721 updated D2HGA OMIM:600721 OMIM MONDO:0010925 velo-facial-skeletal syndrome oio:hasExactSynonym oio:hasRelatedSynonym VELOFACIOSKELETAL syndrome VELOFACIOSKELETAL syndrome velofacioskeletal syndrome OMIM:600736 velofacioskeletal syndrome OMIM:600736 updated VELOFACIOSKELETAL syndrome OMIM:600736 OMIM MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypercalcemia, type 3 OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 updated familial benign hypercalcemia, type 3 OMIM:600740 OMIM MONDO:0010926 familial hypocalciuric hypercalcemia 3 oio:hasExactSynonym oio:hasRelatedSynonym hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, oklahoma type OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 OMIM:600740 updated hypercalcemia, familial benign, Oklahoma type OMIM:600740 OMIM @@ -83258,7 +80629,6 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010960 protocadherin 3 oio:hasExactSynonym oio:hasRelatedSynonym Pcdh3 Pcdh3 pcdh3 OMIM:600931 protocadherin 3 OMIM:600931 updated Pcdh3 OMIM:600931 OMIM MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 updated obesity and endocrinopathy due to impaired processing of prohormones OMIM:600955 OMIM MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym oio:hasRelatedSynonym proprotein convertase 1/3 deficiency OMIM:600955 proprotein convertase 1/3 deficiency OMIM:600955 updated proprotein convertase 1/3 deficiency OMIM:600955 OMIM -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 OMIM:600962, DOID:0050428 updated tylosis OMIM:144200 OMIM MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym keratoderma, nonepidermolytic palmoplantar OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962 updated keratoderma, nonepidermolytic palmoplantar OMIM:600962 OMIM MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym tylosis OMIM:600962 palmoplantar keratoderma, nonepidermolytic OMIM:600962, DOID:0050428 updated tylosis OMIM:600962 OMIM MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym oio:hasRelatedSynonym PPKNE PPKNE ppkne OMIM:600962 palmoplantar keratoderma, nonepidermolytic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600962 updated PPKNE OMIM:600962 OMIM @@ -83289,8 +80659,6 @@ MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynon MONDO:0010974 nephrotic syndrome, type 2 oio:hasExactSynonym oio:hasRelatedSynonym NPHS2 OMIM:600995 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600995, MONDO:Lexical updated NPHS2 OMIM:600995 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010977 Brody myopathy oio:hasExactSynonym oio:hasRelatedSynonym Brody disease Brody disease brody disease OMIM:601003 brody disease GARD:0009158 updated Brody disease OMIM:601003 OMIM MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome with syndactyly long QT syndrome with syndactyly long qt syndrome with syndactyly OMIM:601005 timothy syndrome OMIM:601005 updated long QT syndrome with syndactyly OMIM:601005 OMIM -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym long QT syndrome 8 long QT syndrome 8 long qt syndrome 8 OMIM:618447 long qt syndrome 8 OMIM:601005 updated long QT syndrome 8 OMIM:618447 OMIM -MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 OMIM:618447 long qt syndrome 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:65283 updated LQT8 OMIM:618447 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym Dincsoy syndrome Dincsoy syndrome dincsoy syndrome OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism OMIM:601016 updated Dincsoy syndrome OMIM:601016 OMIM MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 updated tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies OMIM:601027 OMIM MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome oio:hasExactSynonym oio:hasRelatedSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies GARD:0005210 updated tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies OMIM:601027 OMIM @@ -83374,7 +80742,6 @@ MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome oio:hasExactSynonym o MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oio:hasExactSynonym oio:hasRelatedSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:601217 updated alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism OMIM:601217 OMIM MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome MONDO:Lexical, OMIM:601220 updated osteoporosis and oculocutaneous hypopigmentation syndrome OMIM:601220 OMIM MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome oio:hasExactSynonym oio:hasRelatedSynonym OOCH OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601220, MONDO:Lexical updated OOCH OMIM:601220 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 updated PSS OMIM:270300 OMIM MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym Defect11 syndrome Defect11 syndrome defect11 syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 updated Defect11 syndrome OMIM:601224 OMIM MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11P11.2 deletion syndrome chromosome 11P11.2 deletion syndrome chromosome 11p11.2 deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 updated chromosome 11P11.2 deletion syndrome OMIM:601224 OMIM MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome proximal 11p deletion syndrome OMIM:601224 potocki-shaffer syndrome OMIM:601224 updated proximal 11P deletion syndrome OMIM:601224 OMIM @@ -83417,7 +80784,6 @@ MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome oio:hasE MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial AMELIA, cleft LIP, and holoprosencephaly brachial AMELIA, cleft LIP, and holoprosencephaly brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly MONDO:Lexical, OMIM:601357 updated brachial AMELIA, cleft LIP, and holoprosencephaly OMIM:601357 OMIM MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and Facial clefts brachial amelia, forebrain defects, and facial clefts OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly OMIM:601357 updated brachial amelia, forebrain defects, and Facial clefts OMIM:601357 OMIM MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma oio:hasExactSynonym oio:hasRelatedSynonym ACLH OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601357 updated ACLH OMIM:601357 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS OMIM:251260 nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 updated NBS OMIM:251260 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBs NBs nbs OMIM:601358 nicolaides-baraitser syndrome OMIM:601358 updated NBs OMIM:601358 OMIM MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome nicolaides-baraitser syndrome OMIM:601358 nicolaides-baraitser syndrome MONDO:Lexical, OMIM:601358 updated NICOLAIDES-Baraitser syndrome OMIM:601358 OMIM MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NCBRS OMIM:601358 nicolaides-baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358, MONDO:Lexical updated NCBRS OMIM:601358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -83478,7 +80844,6 @@ MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelat MONDO:0011088 congenital myasthenic syndrome 1A oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type IIa, formerly myasthenic syndrome, congenital, type iia, formerly OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel OMIM:601462 updated myasthenic syndrome, congenital, type IIa, formerly OMIM:601462 OMIM MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym portosystemic Venous shunt, congenital portosystemic Venous shunt, congenital portosystemic venous shunt, congenital OMIM:601466 patent ductus venosus OMIM:601466 updated portosystemic Venous shunt, congenital OMIM:601466 OMIM MONDO:0011089 patent ductus venosus oio:hasExactSynonym oio:hasRelatedSynonym PDV OMIM:601466 patent ductus venosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601466, MONDO:Lexical updated PDV OMIM:601466 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial palsy, congenital, unilateral or bilateral OMIM:601471 facial paresis, hereditary congenital, 1 OMIM:601471 updated facial palsy, congenital, unilateral or bilateral OMIM:601471 OMIM MONDO:0011090 isolated hereditary congenital facial paralysis oio:hasExactSynonym oio:hasRelatedSynonym facial paresis, hereditary congenital facial paresis, hereditary congenital Facial paresis, hereditary congenital OMIMPS:601471 Facial paresis, hereditary congenital OMIMPS:601471 updated facial paresis, hereditary congenital OMIMPS:601471 OMIM MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2D Charcot-Marie-Tooth disease, axonal, type 2D charcot-marie-tooth disease, axonal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d MONDO:Lexical, GARD:0001251, OMIM:601472 updated Charcot-Marie-Tooth disease, axonal, type 2D OMIM:601472 OMIM MONDO:0011091 Charcot-Marie-Tooth disease type 2D oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, neuronal, type 2D Charcot-Marie-Tooth disease, neuronal, type 2D charcot-marie-tooth disease, neuronal, type 2d OMIM:601472 charcot-marie-tooth disease, axonal, type 2d OMIM:601472 updated Charcot-Marie-Tooth disease, neuronal, type 2D OMIM:601472 OMIM @@ -83525,7 +80890,6 @@ MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSy MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym LACHT OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601612, MONDO:Lexical updated LACHT OMIM:601612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 updated cysts of iris pigment epithelium OMIM:601616 OMIM MONDO:0011117 iris pigment epithelium anomalies oio:hasExactSynonym oio:hasRelatedSynonym ruffles and cysts of iris pigment epithelium OMIM:601616 iris pigment epithelium anomalies OMIM:601616 updated ruffles and cysts of iris pigment epithelium OMIM:601616 OMIM -MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym neural tube defects, susceptibility to OMIM:182940 neural tube defects, susceptibility to OMIM:genemap2, OMIM:601634 updated neural tube defects, susceptibility to OMIM:182940 OMIM MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTD, folate-sensitive NTD, folate-sensitive ntd, folate-sensitive OMIM:601634 neural tube defects, folate-sensitive OMIM:601634 updated NTD, folate-sensitive OMIM:601634 OMIM MONDO:0011120 neural tube defects, folate-sensitive oio:hasExactSynonym oio:hasRelatedSynonym NTDFS OMIM:601634 neural tube defects, folate-sensitive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601634 updated NTDFS OMIM:601634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011121 paragangliomas 2 oio:hasExactSynonym oio:hasRelatedSynonym glomus tumors, familial, 2 OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 OMIM:601650 updated glomus tumors, familial, 2 OMIM:601650 OMIM @@ -83558,9 +80922,6 @@ MONDO:0011147 chromosome 18q deletion syndrome oio:hasExactSynonym oio:hasRelate MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym PENTT OMIM:601812 premature aging syndrome, penttinen type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601812, MONDO:Lexical updated PENTT OMIM:601812 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011151 exudative vitreoretinopathy 4 oio:hasExactSynonym oio:hasRelatedSynonym EVR4 OMIM:601813 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601813, MONDO:Lexical updated EVR4 OMIM:601813 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011152 PHGDH deficiency oio:hasExactSynonym oio:hasRelatedSynonym PHGDHD OMIM:601815 phosphoglycerate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601815 updated PHGDHD OMIM:601815 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 updated hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:256450 OMIM -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 updated hyperinsulinism, congenital OMIM:256450 OMIM -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 OMIM:601820 updated persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450 OMIM MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 updated hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia OMIM:601820 OMIM MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, persistent OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 updated hyperinsulinemic hypoglycemia, persistent OMIM:601820 OMIM MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, congenital OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 updated hyperinsulinism, congenital OMIM:601820 OMIM @@ -83569,7 +80930,6 @@ MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym nesidioblastosis OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 updated nesidioblastosis OMIM:601820 OMIM MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 OMIM:601820 updated persistent hyperinsulinemic hypoglycemia of infancy OMIM:601820 OMIM MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HHF2 OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601820, GARD:0009927, MONDO:Lexical updated HHF2 OMIM:601820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011155 vacuolar Neuromyopathy oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM:601846 updated muscular dystrophy, autosomal dominant, with rimmed vacuoles OMIM:603511 OMIM MONDO:0011156 progressive familial intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, progressive familial intrahepatic, 2 OMIM:601847 cholestasis, progressive familial intrahepatic, 2 MONDO:Lexical, OMIM:601847 updated cholestasis, progressive familial intrahepatic, 2 OMIM:601847 OMIM MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cerebellotrigeminal dermal dysplasia Cerebellotrigeminal dermal dysplasia cerebellotrigeminal dermal dysplasia OMIM:601853 gomez-lopez-hernandez syndrome GARD:0000229 updated Cerebellotrigeminal dermal dysplasia OMIM:601853 OMIM MONDO:0011157 Gomez-Lopez-Hernandez syndrome oio:hasExactSynonym oio:hasRelatedSynonym GOMEZ-LOPEZ-HERNANDEZ syndrome GOMEZ-LOPEZ-HERNANDEZ syndrome gomez-lopez-hernandez syndrome OMIM:601853 gomez-lopez-hernandez syndrome OMIM:601853 updated GOMEZ-LOPEZ-HERNANDEZ syndrome OMIM:601853 OMIM @@ -83690,7 +81050,6 @@ MONDO:0011229 ethylmalonic encephalopathy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0011230 ossification of the posterior longitudinal ligament of the spine oio:hasExactSynonym oio:hasRelatedSynonym ossification of the POSTERIOR longitudinal ligament of spine ossification of the POSTERIOR longitudinal ligament of spine ossification of the posterior longitudinal ligament of spine OMIM:602475 ossification of the posterior longitudinal ligament of spine MONDO:Lexical, OMIM:602475 updated ossification of the POSTERIOR longitudinal ligament of spine OMIM:602475 OMIM MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mhp2 Mhp2 mhp2 OMIM:602481 migraine, familial hemiplegic, 2 OMIM:602481 updated Mhp2 OMIM:602481 OMIM MONDO:0011232 migraine, familial hemiplegic, 2 oio:hasExactSynonym oio:hasRelatedSynonym FHM2 OMIM:602481 migraine, familial hemiplegic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602481, MONDO:Lexical updated FHM2 OMIM:602481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym anterior segment mesenchymal dysgenesis OMIM:107250 anterior segment dysgenesis 1 DOID:0110122, OMIM:602482 updated anterior segment mesenchymal dysgenesis OMIM:107250 OMIM MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 updated Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss OMIM:602482 OMIM MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Axenfeld-Rieger syndrome, type 3 Axenfeld-Rieger syndrome, type 3 axenfeld-rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482, MONDO:Lexical updated Axenfeld-Rieger syndrome, type 3 OMIM:602482 OMIM MONDO:0011233 Axenfeld-Rieger syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym Rieger syndrome, type 3 Rieger syndrome, type 3 rieger syndrome, type 3 OMIM:602482 axenfeld-rieger syndrome, type 3 OMIM:602482 updated Rieger syndrome, type 3 OMIM:602482 OMIM @@ -83778,7 +81137,6 @@ MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:has MONDO:0011283 mitochondrial DNA depletion syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MTDPS1 OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603041, MONDO:Lexical updated MTDPS1 OMIM:603041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 MONDO:Lexical, OMIM:603075 updated macular degeneration, age-related, 1 OMIM:603075 OMIM MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasRelatedSynonym maculopathy, age-related, 1 OMIM:603075 macular degeneration, age-related, 1 OMIM:603075 updated maculopathy, age-related, 1 OMIM:603075 OMIM -MONDO:0011285 age related macular degeneration 1 oio:hasExactSynonym oio:hasBroadSynonym macular degeneration, age-related macular degeneration, age-related Macular degeneration, age-related OMIMPS:603075 Macular degeneration, age-related OMIM:603075, OMIM:genemap2 updated macular degeneration, age-related OMIMPS:603075 OMIM MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 13 OMIM:603098 deafness, autosomal recessive 13 MONDO:Lexical, OMIM:603098, OMIM:genemap2 updated deafness, autosomal recessive 13 OMIM:603098 OMIM MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 oio:hasExactSynonym oio:hasNarrowSynonym DFNB13 OMIM:603098 deafness, autosomal recessive 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110468, MONDO:Lexical, OMIM:603098 updated DFNB13 OMIM:603098 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 cdags syndrome OMIM:603116 updated craniosynostosis, anal anomalies, and porokeratosis OMIM:603116 OMIM @@ -83873,15 +81231,6 @@ MONDO:0011384 hypertension, essential, susceptibility to, 1 oio:hasExactSynonym MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 updated nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 OMIM MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:603933 updated proliferative retinopathy, diabetic, susceptibility to OMIM:603933 OMIM MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym MVCD1 OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:603933, MONDO:Lexical updated MVCD1 OMIM:603933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 updated end-stage renal disease, diabetic, susceptibility to OMIM:612623 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:603933 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612623 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 updated end-stage renal disease, diabetic, susceptibility to OMIM:612624 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:603933 updated nephropathy, diabetic, susceptibility to OMIM:612624 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:603933 updated nephropathy, diabetic, susceptibility to OMIM:612628 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:603933 updated nephropathy, diabetic, susceptibility to OMIM:612634 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 updated nephropathy, diabetic, susceptibility to OMIM:612635 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 updated nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 OMIM -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:603933 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612635 OMIM MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 16 OMIM:603964 deafness, autosomal dominant 16 OMIM:genemap2, MONDO:Lexical, OMIM:603964 updated deafness, autosomal dominant 16 OMIM:603964 OMIM MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 oio:hasExactSynonym oio:hasNarrowSynonym DFNA16 OMIM:603964 deafness, autosomal dominant 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110547, MONDO:Lexical, OMIM:603964 updated DFNA16 OMIM:603964 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011390 focal segmental glomerulosclerosis 2 oio:hasExactSynonym oio:hasRelatedSynonym glomerulosclerosis, focal segmental, 2 OMIM:603965 focal segmental glomerulosclerosis 2 OMIM:603965 updated glomerulosclerosis, focal segmental, 2 OMIM:603965 OMIM @@ -83890,7 +81239,6 @@ MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 oio:hasExactSynon MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym HDL cholesterol, Low serum HDL cholesterol, Low serum hdl cholesterol, low serum OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 updated HDL cholesterol, Low serum OMIM:604091 OMIM MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym familial HDL deficiency familial HDL deficiency familial hdl deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 GARD:0002872, OMIM:604091 updated familial HDL deficiency OMIM:604091 OMIM MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:604091 updated high density lipoprotein deficiency OMIM:604091 OMIM -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:604091 updated high density lipoprotein deficiency OMIM:618463 OMIM MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym Vohwinkel syndrome, variant form Vohwinkel syndrome, variant form vohwinkel syndrome, variant form OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 updated Vohwinkel syndrome, variant form OMIM:604117 OMIM MONDO:0011396 loricrin keratoderma oio:hasExactSynonym oio:hasRelatedSynonym mutilating keratoderma with ichthyosis OMIM:604117 vohwinkel syndrome, variant form OMIM:604117 updated mutilating keratoderma with ichthyosis OMIM:604117 OMIM MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:Lexical, OMIM:604121 updated cerebellar ataxia, deafness, and narcolepsy, autosomal dominant OMIM:604121 OMIM @@ -83970,9 +81318,6 @@ MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotric MONDO:0011452 hypotrichosis 7 oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis, total, Mari type hypotrichosis, total, Mari type hypotrichosis, total, mari type OMIM:604379 hypotrichosis 7 OMIM:604379 updated hypotrichosis, total, Mari type OMIM:604379 OMIM MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 updated patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381 OMIM MONDO:0011456 nephronophthisis 3 oio:hasExactSynonym oio:hasRelatedSynonym Nph3 Nph3 nph3 OMIM:604387 nephronophthisis 3 OMIM:604387 updated Nph3 OMIM:604387 OMIM -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ataxia-telangiectasia-like disorder 1 OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391, MONDO:Lexical updated ataxia-telangiectasia-like disorder 1 OMIM:604391 OMIM -MONDO:0011457 ataxia-telangiectasia-like disorder oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604391 updated ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011458 Leber congenital amaurosis 4 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy OMIM:120970 cone-rod dystrophy 2 OMIM:genemap2, OMIM:604393 updated cone-rod dystrophy OMIM:120970 OMIM MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400, MONDO:Lexical updated arrhythmogenic right ventricular dysplasia, familial, 5 OMIM:604400 OMIM MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401, MONDO:Lexical updated arrhythmogenic right ventricular dysplasia, familial, 6 OMIM:604401 OMIM MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 oio:hasExactSynonym oio:hasRelatedSynonym GEFSP2 OMIM:604403 generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604403 updated GEFSP2 OMIM:604403 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -83993,8 +81338,6 @@ MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:h MONDO:0011474 progressive familial heart block type IB oio:hasExactSynonym oio:hasRelatedSynonym progressive familial heart block, type 1B progressive familial heart block, type 1B progressive familial heart block, type 1b OMIM:604559 progressive familial heart block, type 1b OMIM:604559 updated progressive familial heart block, type 1B OMIM:604559 OMIM MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 updated Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 OMIM:604563 OMIM MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 4B2 Charcot-Marie-Tooth neuropathy, type 4B2 charcot-marie-tooth neuropathy, type 4b2 OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 OMIM:604563 updated Charcot-Marie-Tooth neuropathy, type 4B2 OMIM:604563 OMIM -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome, type 1 Bare lymphocyte syndrome, type 1 bare lymphocyte syndrome, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 updated Bare lymphocyte syndrome, type 1 OMIM:604571 OMIM -MONDO:0011476 MHC class I deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bls, type 1 Bls, type 1 bls, type 1 OMIM:604571 mhc class 1 deficiency 1 OMIM:604571 updated Bls, type 1 OMIM:604571 OMIM MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym hypodontia/oligodontia 3 OMIM:604625 tooth agenesis, selective, 3 OMIM:604625 updated hypodontia/oligodontia 3 OMIM:604625 OMIM MONDO:0011477 tooth agenesis, selective, 3 oio:hasExactSynonym oio:hasRelatedSynonym STHAG3 OMIM:604625 tooth agenesis, selective, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604625, MONDO:Lexical updated STHAG3 OMIM:604625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia oio:hasExactSynonym oio:hasRelatedSynonym Roca syndrome Roca syndrome roca syndrome OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia OMIM:604690 updated Roca syndrome OMIM:604690 OMIM @@ -84045,8 +81388,6 @@ MONDO:0011509 low density lipoprotein cholesterol, mild elevation of oio:hasExac MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome bohring-opitz syndrome OMIM:605039 bohring-opitz syndrome OMIM:605039 updated BOHRING-Opitz syndrome OMIM:605039 OMIM MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOPS OMIM:605039 bohring-opitz syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605039 updated BOPS OMIM:605039 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia oio:hasExactSynonym oio:hasRelatedSynonym Chzam Chzam chzam OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia OMIM:605040 updated Chzam OMIM:605040 OMIM -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:209885 barber-say syndrome OMIM:605041 updated Bss OMIM:209885 OMIM -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BSS Bss BSS OMIM:231200 bernard-soulier syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605041 updated BSS OMIM:231200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Bss Bss bss OMIM:605041 brooke-spiegler syndrome OMIM:605041 updated Bss OMIM:605041 OMIM MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym Spiegler-Brooke syndrome Spiegler-Brooke syndrome spiegler-brooke syndrome OMIM:605041 brooke-spiegler syndrome OMIM:605041 updated Spiegler-Brooke syndrome OMIM:605041 OMIM MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS OMIM:605041 brooke-spiegler syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 updated BRSS OMIM:605041 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -84093,7 +81434,6 @@ MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym cataton MONDO:0011552 schizophrenia 10 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia susceptibility locus, chromosome 15q15-related OMIM:605419 schizophrenia 10 OMIM:605419 updated schizophrenia susceptibility locus, chromosome 15Q15-related OMIM:605419 OMIM MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 26 OMIM:605428 deafness, autosomal recessive 26 MONDO:Lexical, OMIM:genemap2, OMIM:605428 updated deafness, autosomal recessive 26 OMIM:605428 OMIM MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 oio:hasExactSynonym oio:hasNarrowSynonym DFNB26 OMIM:605428 deafness, autosomal recessive 26 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605428, DOID:0110484, MONDO:Lexical updated DFNB26 OMIM:605428 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym RUSAT RUSAT rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605432 updated RUSAT OMIM:605432 OMIM MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oio:hasExactSynonym oio:hasRelatedSynonym radioulnar synostosis with amegakaryocytic thrombocytopenia radioulnar synostosis with amegakaryocytic thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia MONDO:Lexical, OMIM:605432 updated radioulnar synostosis with amegakaryocytic thrombocytopenia OMIMPS:605432 OMIM MONDO:0011558 Usher syndrome type 2C oio:hasExactSynonym oio:hasRelatedSynonym Usher syndrome, type 2C Usher syndrome, type 2C usher syndrome, type 2c OMIM:605472 usher syndrome, type 2c GARD:0008497 updated Usher syndrome, type 2C OMIM:605472 OMIM MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 oio:hasExactSynonym oio:hasRelatedSynonym cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 OMIM:605479, MONDO:Lexical updated cholestasis, benign recurrent intrahepatic, 2 OMIM:605479 OMIM @@ -84176,7 +81516,6 @@ MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion b MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym inclusion body myopathy, quadriceps-sparing OMIM:605820 nonaka myopathy OMIM:605820, GARD:0009493 updated inclusion body myopathy, quadriceps-sparing OMIM:605820 OMIM MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with or without rimmed vacuoles OMIM:605820 nonaka myopathy OMIM:605820 updated myopathy, distal, with or without rimmed vacuoles OMIM:605820 OMIM MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM OMIM:605820 nonaka myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 updated NM OMIM:605820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, with rimmed vacuoles OMIM:617158 myopathy, distal, with rimmed vacuoles OMIM:605820 updated myopathy, distal, with rimmed vacuoles OMIM:617158 OMIM MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym spondyloocular syndrome OMIM:605822 spondyloocular syndrome MONDO:Lexical, OMIM:605822 updated spondyloocular syndrome OMIM:605822 OMIM MONDO:0011604 spondylo-ocular syndrome oio:hasExactSynonym oio:hasRelatedSynonym SOS OMIM:605822 spondyloocular syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:605822, MONDO:Lexical updated SOS OMIM:605822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011605 generalized basaloid follicular hamartoma syndrome oio:hasExactSynonym oio:hasRelatedSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:Lexical, OMIM:605827 updated basaloid follicular hamartoma syndrome, generalized, autosomal dominant OMIM:605827 OMIM @@ -84185,8 +81524,6 @@ MONDO:0011608 dermatitis, atopic, 5 oio:hasExactSynonym oio:hasRelatedSynonym de MONDO:0011609 dermatitis, atopic, 6 oio:hasExactSynonym oio:hasRelatedSynonym dermatitis, ATOPIC, 6 dermatitis, ATOPIC, 6 dermatitis, atopic, 6 OMIM:605845 dermatitis, atopic, 6 OMIM:605845, MONDO:Lexical updated dermatitis, ATOPIC, 6 OMIM:605845 OMIM MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency dmgdh deficiency OMIM:605850 dimethylglycine dehydrogenase deficiency OMIM:605850 updated Dmgdh deficiency OMIM:605850 OMIM MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym DMGDHD OMIM:605850 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605850 updated DMGDHD OMIM:605850 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym hyperglycinemia, Nonketotic hyperglycinemia, Nonketotic hyperglycinemia, nonketotic OMIM:605899 glycine encephalopathy 1 OMIM:605899 updated hyperglycinemia, Nonketotic OMIM:605899 OMIM -MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GCE GCE gce OMIM:605899 glycine encephalopathy 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605899 updated GCE OMIM:605899 OMIM MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy OMIMPS:605899 Glycine encephalopathy OMIM:605899 updated GLYCINE encephalopathy OMIMPS:605899 OMIM MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, autosomal recessive early-onset Parkinson disease 6, autosomal recessive early-onset parkinson disease 6, autosomal recessive early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909, MONDO:Lexical updated Parkinson disease 6, autosomal recessive early-onset OMIM:605909 OMIM MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 oio:hasExactSynonym oio:hasRelatedSynonym Parkinson disease 6, early-onset Parkinson disease 6, early-onset parkinson disease 6, early-onset OMIM:605909 parkinson disease 6, autosomal recessive early-onset OMIM:605909 updated Parkinson disease 6, early-onset OMIM:605909 OMIM @@ -84241,7 +81578,6 @@ MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 oio:hasExactS MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and joint dislocations OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606220 updated mental retardation, short stature, facial anomalies, and JOINT dislocations OMIM:606220 OMIM MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome chromosome 22q13.3 deletion syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 updated chromosome 22Q13.3 deletion syndrome OMIM:606232 OMIM MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym telomeric 22Q13 monosomy syndrome telomeric 22Q13 monosomy syndrome telomeric 22q13 monosomy syndrome OMIM:606232 phelan-mcdermid syndrome OMIM:606232 updated telomeric 22Q13 monosomy syndrome OMIM:606232 OMIM -MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1 OMIM:188550 thyroid cancer, nonmedullary, 1 OMIM:606240 updated thyroid cancer, nonmedullary, 1 OMIM:188550 OMIM MONDO:0011653 thyroid cancer, nonmedullary, 3 oio:hasExactSynonym oio:hasRelatedSynonym thyroid cancer, nonmedullary, 1, formerly OMIM:606240 thyroid cancer, nonmedullary, 3 OMIM:606240 updated thyroid cancer, nonmedullary, 1, formerly OMIM:606240 OMIM MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym Kondoh syndrome Kondoh syndrome kondoh syndrome OMIM:606242 kondoh syndrome OMIM:606242 updated Kondoh syndrome OMIM:606242 OMIM MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism OMIM:606242 kondoh syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:606242 updated mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism OMIM:606242 OMIM @@ -84278,14 +81614,10 @@ MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate B Charcot-Marie-Tooth neuropathy, dominant Intermediate B charcot-marie-tooth neuropathy, dominant intermediate B OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 updated Charcot-Marie-Tooth neuropathy, dominant Intermediate B OMIM:606482 OMIM MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Cmtdi1 Cmtdi1 cmtdi1 OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 updated Cmtdi1 OMIM:606482 OMIM MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym Di-CMTB Di-CMTB di-cmtb OMIM:606482 charcot-marie-tooth disease, dominant intermediate B OMIM:606482 updated Di-CMTB OMIM:606482 OMIM -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate A Charcot-Marie-Tooth disease, dominant intermediate A charcot-marie-tooth disease, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a MONDO:Lexical, OMIM:606483 updated Charcot-Marie-Tooth disease, dominant intermediate A OMIM:620378 OMIM -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate a Charcot-Marie-Tooth neuropathy, dominant Intermediate a charcot-marie-tooth neuropathy, dominant intermediate a OMIM:620378 charcot-marie-tooth disease, dominant intermediate a OMIM:606483 updated Charcot-Marie-Tooth neuropathy, dominant Intermediate a OMIM:620378 OMIM MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym PHACE association PHACE association phace association OMIM:606519 phace association OMIM:606519 updated PHACE association OMIM:606519 OMIM MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym Phaces association Phaces association phaces association OMIM:606519 phace association OMIM:606519 updated Phaces association OMIM:606519 OMIM MONDO:0011676 PHACE syndrome oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, giant congenital OMIM:606519 phace association OMIM:606519 updated aortic aneurysm, giant congenital OMIM:606519 OMIM MONDO:0011678 homozygous 11P15-p14 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 homozygous 11p15-p14 deletion syndrome OMIM:606528 updated hyperinsulinism, infantile, with enteropathy and deafness OMIM:606528 OMIM -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242100 ichthyosis, congenital, autosomal recessive 2 OMIM:606545 updated collodion baby, self-healing OMIM:242100 OMIM -MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:242300 ichthyosis, congenital, autosomal recessive 1 OMIM:606545 updated collodion baby, self-healing OMIM:242300 OMIM MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym collodion baby, self-healing OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 updated collodion baby, self-healing OMIM:606545 OMIM MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, congenital, autosomal recessive 3 OMIM:606545 ichthyosis, congenital, autosomal recessive 3 MONDO:Lexical, OMIM:606545 updated ichthyosis, congenital, autosomal recessive 3 OMIM:606545 OMIM MONDO:0011680 autosomal recessive congenital ichthyosis 3 oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, lamellar, 5, formerly OMIM:606545 ichthyosis, congenital, autosomal recessive 3 OMIM:606545 updated ichthyosis, lamellar, 5, formerly OMIM:606545 OMIM @@ -84343,11 +81675,9 @@ MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:has MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose Transport defect, blood-brain barrier glucose Transport defect, blood-brain barrier glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 OMIM:606777 updated glucose Transport defect, blood-brain barrier OMIM:606777 OMIM MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym glucose transport defect, blood-brain barrier OMIM:606777 glut1 deficiency syndrome 1 MESH:C536830, GARD:0009265 updated glucose transport defect, blood-brain barrier OMIM:606777 OMIM MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1DS1 OMIM:606777 glut1 deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, MESH:C536830, OMIM:606777 updated GLUT1DS1 OMIM:606777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011724 encephalopathy due to GLUT1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym GLUT1 deficiency syndrome GLUT1 deficiency syndrome Glut1 deficiency syndrome OMIMPS:606777 Glut1 deficiency syndrome GARD:0009265 updated GLUT1 deficiency syndrome OMIMPS:606777 OMIM MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Crigler-Najjar syndrome, type 2 Crigler-Najjar syndrome, type 2 crigler-najjar syndrome, type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 updated Crigler-Najjar syndrome, type 2 OMIM:606785 OMIM MONDO:0011725 Crigler-Najjar syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, Crigler-Najjar type 2 hyperbilirubinemia, crigler-najjar type 2 OMIM:606785 crigler-najjar syndrome, type 2 OMIM:606785 updated hyperbilirubinemia, Crigler-Najjar type 2 OMIM:606785 OMIM MONDO:0011726 peripheral arterial occlusive disease 1 oio:hasExactSynonym oio:hasRelatedSynonym Paod1 Paod1 paod1 OMIM:606787 peripheral arterial occlusive disease 1 OMIM:606787 updated Paod1 OMIM:606787 OMIM -MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:106210 aniridia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 updated AN OMIM:106210 OMIM MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym anorexia nervosa, susceptibility to OMIM:606788 anorexia nervosa, susceptibility to OMIM:606788 updated anorexia nervosa, susceptibility to OMIM:606788 OMIM MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym AN AN an OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 updated AN OMIM:606788 OMIM MONDO:0011727 anorexia nervosa, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym ANON anon ANON OMIM:606788 anorexia nervosa, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606788 updated ANON OMIM:606788 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -84408,9 +81738,6 @@ MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:h MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 OMIM:607088, MONDO:Lexical updated spinal muscular atrophy, distal, autosomal recessive, 3 OMIM:607088 OMIM MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG IId CDG IId cdg iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091 updated CDG IId OMIM:607091 OMIM MONDO:0011772 B4GALT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type IId congenital disorder of glycosylation, type iid OMIM:607091 congenital disorder of glycosylation, type iid OMIM:607091, MONDO:Lexical updated congenital disorder of glycosylation, type IId OMIM:607091 OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia 1 OMIM:607095 anauxetic dysplasia 1 OMIM:607095, DOID:0050640 updated anauxetic dysplasia 1 OMIM:607095 OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 updated spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 OMIM -MONDO:0011773 anauxetic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 updated ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 30 OMIM:607101 deafness, autosomal recessive 30 OMIM:genemap2, MONDO:Lexical, OMIM:607101 updated deafness, autosomal recessive 30 OMIM:607101 OMIM MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym oio:hasNarrowSynonym DFNB30 OMIM:607101 deafness, autosomal recessive 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607101, DOID:0110489 updated DFNB30 OMIM:607101 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Npca Npca npca OMIM:607107 nasopharyngeal carcinoma OMIM:607107 updated Npca OMIM:607107 OMIM @@ -84450,7 +81777,6 @@ MONDO:0011796 epilepsy, partial, with pericentral spikes oio:hasExactSynonym oio MONDO:0011797 infantile-onset ascending hereditary spastic paralysis oio:hasExactSynonym oio:hasRelatedSynonym spastic paralysis, infantile-onset ascending OMIM:607225 spastic paralysis, infantile-onset ascending OMIM:607225, MONDO:Lexical updated spastic paralysis, infantile-onset ascending OMIM:607225 OMIM MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 33 OMIM:607239 deafness, autosomal recessive 33 OMIM:607239, OMIM:genemap2, MONDO:Lexical updated deafness, autosomal recessive 33 OMIM:607239 OMIM MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 oio:hasExactSynonym oio:hasNarrowSynonym DFNB33 OMIM:607239 deafness, autosomal recessive 33 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607239, DOID:0110492 updated DFNB33 OMIM:607239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia, autosomal recessive, with axonal neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIM:607250 updated spinocerebellar ataxia, autosomal recessive, with axonal neuropathy OMIMPS:607250 OMIM MONDO:0011802 hypercalciuria, absorptive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Hca1 Hca1 hca1 OMIM:607258 hypercalciuria, absorptive, 1 OMIM:607258 updated Hca1 OMIM:607258 OMIM MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 7, autosomal recessive OMIM:607259 spastic paraplegia 7, autosomal recessive OMIM:607259, MONDO:Lexical updated spastic paraplegia 7, autosomal recessive OMIM:607259 OMIM MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds ceds OMIM:607271 caspase 8 deficiency OMIM:607271 updated Ceds OMIM:607271 OMIM @@ -84470,7 +81796,6 @@ MONDO:0011813 polydactyly, postaxial, type A3 oio:hasExactSynonym oio:hasRelated MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMITH-McCort dysplasia 1 SMITH-McCort dysplasia 1 smith-mccort dysplasia 1 OMIM:607326 smith-mccort dysplasia 1 OMIM:607326 updated SMITH-McCort dysplasia 1 OMIM:607326 OMIM MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC SMC smc OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326 updated SMC OMIM:607326 OMIM MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym SMC1 Smc1 SMC1 OMIM:607326 smith-mccort dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607326, MONDO:Lexical updated SMC1 OMIM:607326 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011814 Smith-McCort dysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym Smith-McCort dysplasia OMIMPS:607326 Smith-McCort dysplasia OMIM:607326, OMIM:genemap2 updated Smith-McCort dysplasia OMIMPS:607326 OMIM MONDO:0011815 hypertension, essential, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Hyt3 Hyt3 hyt3 OMIM:607329 hypertension, essential, susceptibility to, 3 OMIM:607329 updated Hyt3 OMIM:607329 OMIM MONDO:0011816 lathosterolosis oio:hasExactSynonym oio:hasRelatedSynonym Sc5D deficiency Sc5D deficiency sc5d deficiency OMIM:607330 lathosterolosis OMIM:607330 updated Sc5D deficiency OMIM:607330 OMIM MONDO:0011817 coronary heart disease, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Chds1 Chds1 chds1 OMIM:607339 coronary heart disease, susceptibility to, 1 OMIM:607339 updated Chds1 OMIM:607339 OMIM @@ -84549,14 +81874,12 @@ MONDO:0011862 hereditary spastic paraplegia 24 oio:hasExactSynonym oio:hasRelate MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 oio:hasExactSynonym oio:hasRelatedSynonym HPCqtl19 HPCqtl19 hpcqtl19 OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 OMIM:607592 updated HPCqtl19 OMIM:607592 OMIM MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym antibody deficiency due to Icos defect antibody deficiency due to Icos defect antibody deficiency due to icos defect OMIM:607594 immunodeficiency, common variable, 1 OMIM:607594 updated antibody deficiency due to Icos defect OMIM:607594 OMIM MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym CVID1 OMIM:607594 immunodeficiency, common variable, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607594 updated CVID1 OMIM:607594 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011864 immunodeficiency, common variable, 1 oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, common variable immunodeficiency, common variable Immunodeficiency, common variable OMIMPS:607594 Immunodeficiency, common variable OMIM:607594 updated immunodeficiency, common variable OMIMPS:607594 OMIM MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym Pch1 Pch1 pch1 OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 updated Pch1 OMIM:607596 OMIM MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 updated pontocerebellar hypoplasia with anterior horn cell disease OMIM:607596 OMIM MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 pontocerebellar hypoplasia, type 1a OMIM:607596 updated pontocerebellar hypoplasia with infantile spinal muscular atrophy OMIM:607596 OMIM MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia, type 1a OMIM:607596 pontocerebellar hypoplasia, type 1a MONDO:Lexical, OMIM:607596 updated pontocerebellar hypoplasia, type 1A OMIM:607596 OMIM MONDO:0011866 pontocerebellar hypoplasia type 1A oio:hasExactSynonym oio:hasRelatedSynonym PCH1A OMIM:607596 pontocerebellar hypoplasia, type 1a http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607596, MONDO:Lexical updated PCH1A OMIM:607596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011868 lethal congenital contracture syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, Israeli Bedouin type a multiple contracture syndrome, israeli bedouin type a OMIM:607598 lethal congenital contracture syndrome 2 OMIM:607598 updated multiple contracture syndrome, Israeli Bedouin type a OMIM:607598 OMIM -MONDO:0011870 annular epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 ichthyosis, annular epidermolytic, 1 OMIM:607602 updated ichthyosis, cyclic, with epidermolytic hyperkeratosis OMIM:607602 OMIM MONDO:0011871 Niemann-Pick disease type B oio:hasExactSynonym oio:hasRelatedSynonym Niemann-PICK disease, type B Niemann-PICK disease, type B niemann-pick disease, type B OMIM:607616 niemann-pick disease, type B OMIM:607616 updated Niemann-PICK disease, type B OMIM:607616 OMIM MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Griscelli syndrome, type 2 Griscelli syndrome, type 2 griscelli syndrome, type 2 OMIM:607624 griscelli syndrome, type 2 OMIM:607624, MONDO:Lexical updated Griscelli syndrome, type 2 OMIM:607624 OMIM MONDO:0011872 Griscelli syndrome type 2 oio:hasExactSynonym oio:hasRelatedSynonym Paid syndrome Paid syndrome paid syndrome OMIM:607624 griscelli syndrome, type 2 OMIM:607624 updated Paid syndrome OMIM:607624 OMIM @@ -84600,9 +81923,6 @@ MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CMT2 with vocal cord paresis, autosomal recessive CMT2 with vocal cord paresis, autosomal recessive cmt2 with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 updated CMT2 with vocal cord paresis, autosomal recessive OMIM:607706 OMIM MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 updated Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 OMIM MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 updated Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 OMIM -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 1 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 updated Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 OMIM -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH NSLH nslh OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607721 updated NSLH OMIM:607721 OMIM -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactSynonym oio:hasRelatedSynonym NSLH1 OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607721 updated NSLH1 OMIM:607721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011900 porokeratosis 4, disseminated superficial actinic type oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis, disseminated superficial actinic, 2 OMIM:607728 porokeratosis 4, disseminated superficial actinic type OMIM:607728 updated porokeratosis, disseminated superficial actinic, 2 OMIM:607728 OMIM MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2H Charcot-Marie-Tooth disease, axonal, type 2H charcot-marie-tooth disease, axonal, type 2h OMIM:607731 charcot-marie-tooth disease, axonal, type 2h MONDO:Lexical, OMIM:607731 updated Charcot-Marie-Tooth disease, axonal, type 2H OMIM:607731 OMIM MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 charcot-marie-tooth disease, axonal, type 2h OMIM:607731 updated Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive OMIM:607731 OMIM @@ -84677,10 +81997,8 @@ MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar atax MONDO:0011951 amyotrophic lateral sclerosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia MONDO:Lexical, OMIM:608030 updated amyotrophic lateral sclerosis 6 with or without frontotemporal dementia OMIM:608030 OMIM MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 MONDO:Lexical, OMIM:608033 updated encephalopathy, acute, infection-induced, susceptibility to, 3 OMIM:608033 OMIM MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym IIAE3 OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608033, MONDO:Lexical updated IIAE3 OMIM:608033 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0011953 familial acute necrotizing encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, acute necrotizing, susceptibility to OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:608033 updated encephalopathy, acute necrotizing, susceptibility to OMIM:620461 OMIM MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 oio:hasExactSynonym oio:hasRelatedSynonym noninsulin-dependent diabetes mellitus 4 OMIM:608036 type 2 diabetes mellitus 4 OMIM:608036 updated noninsulin-dependent diabetes mellitus 4 OMIM:608036 OMIM MONDO:0011957 retinal macular dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, retinal, 2 OMIM:608051 macular dystrophy, retinal, 2 MONDO:Lexical, OMIM:608051 updated macular dystrophy, retinal, 2 OMIM:608051 OMIM -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:603671 acromelic frontonasal dysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 updated AFND OMIM:603671 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gomm-button disease Gomm-button disease gomm-button disease OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 updated Gomm-button disease OMIM:608068 OMIM MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym neutrophilic dermatosis, acute febrile OMIM:608068 neutrophilic dermatosis, acute febrile OMIM:608068 updated neutrophilic dermatosis, acute febrile OMIM:608068 OMIM MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND OMIM:608068 neutrophilic dermatosis, acute febrile http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 updated AFND OMIM:608068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -84694,7 +82012,6 @@ MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oi MONDO:0011964 DPAGT1-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type Ij congenital disorder of glycosylation, type ij OMIM:608093 congenital disorder of glycosylation, type ij OMIM:608093, MONDO:Lexical updated congenital disorder of glycosylation, type Ij OMIM:608093 OMIM MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym Ftle Ftle ftle OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096 updated Ftle OMIM:608096 OMIM MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe, 2 OMIM:608096 epilepsy, familial temporal lobe, 2 OMIM:608096, MONDO:Lexical updated epilepsy, familial temporal lobe, 2 OMIM:608096 OMIM -MONDO:0011965 familial temporal lobe epilepsy 2 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial temporal lobe epilepsy, familial temporal lobe Epilepsy, familial temporal lobe OMIMPS:600512 Epilepsy, familial temporal lobe GARD:0005135 updated epilepsy, familial temporal lobe OMIMPS:600512 OMIM MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym heterotopia, periventricular, autosomal recessive OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 updated heterotopia, periventricular, autosomal recessive OMIM:608097 OMIM MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym periventricular nodular heterotopia 2 OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive OMIM:608097 updated periventricular nodular heterotopia 2 OMIM:608097 OMIM MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ARPHM OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608097 updated ARPHM OMIM:608097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -84755,15 +82072,12 @@ MONDO:0012011 coronary artery disease, autosomal dominant, 1 oio:hasExactSynonym MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate C Charcot-Marie-Tooth disease, dominant intermediate C charcot-marie-tooth disease, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323, MONDO:Lexical updated Charcot-Marie-Tooth disease, dominant intermediate C OMIM:608323 OMIM MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, dominant Intermediate C Charcot-Marie-Tooth neuropathy, dominant Intermediate C charcot-marie-tooth neuropathy, dominant intermediate c OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 updated Charcot-Marie-Tooth neuropathy, dominant Intermediate C OMIM:608323 OMIM MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C oio:hasExactSynonym oio:hasRelatedSynonym Di-Cmtc Di-Cmtc di-cmtc OMIM:608323 charcot-marie-tooth disease, dominant intermediate c OMIM:608323 updated Di-Cmtc OMIM:608323 OMIM -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 updated mesodermal Dysmorphodystrophy, congenital OMIM:277600 OMIM -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:277600 weill-marchesani syndrome 1 OMIM:608328 updated spherophakia-brachymorphia syndrome OMIM:277600 OMIM MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym mesodermal Dysmorphodystrophy, congenital mesodermal Dysmorphodystrophy, congenital mesodermal dysmorphodystrophy, congenital OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 updated mesodermal Dysmorphodystrophy, congenital OMIM:608328 OMIM MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome OMIM:608328 weill-marchesani syndrome 2 OMIM:608328 updated spherophakia-brachymorphia syndrome OMIM:608328 OMIM MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, recessive intermediate A charcot-marie-tooth disease, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340, MONDO:Lexical updated Charcot-Marie-Tooth disease, recessive intermediate A OMIM:608340 OMIM MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, recessive Intermediate a Charcot-Marie-Tooth neuropathy, recessive Intermediate a charcot-marie-tooth neuropathy, recessive intermediate a OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 updated Charcot-Marie-Tooth neuropathy, recessive Intermediate a OMIM:608340 OMIM MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A oio:hasExactSynonym oio:hasRelatedSynonym Ri-Cmta Ri-Cmta ri-cmta OMIM:608340 charcot-marie-tooth disease, recessive intermediate a OMIM:608340 updated Ri-Cmta OMIM:608340 OMIM MONDO:0012015 nystagmus 3, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 3, congenital, autosomal dominant NYSTAGMUS 3, congenital, autosomal dominant nystagmus 3, congenital, autosomal dominant OMIM:608345 nystagmus 3, congenital, autosomal dominant MONDO:Lexical, OMIM:608345 updated NYSTAGMUS 3, congenital, autosomal dominant OMIM:608345 OMIM -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354, MONDO:Lexical updated capillary malformation-arteriovenous malformation OMIM:608354 OMIM MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical updated capillary malformation-arteriovenous malformation OMIMPS:608354 OMIM MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK Sedk SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 updated SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type oio:hasExactSynonym oio:hasRelatedSynonym SEDK OMIM:608361 spondyloepiphyseal dysplasia, kimberley type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608361 updated SEDK OMIM:608361 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -84811,7 +82125,6 @@ MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelated MONDO:0012059 polydactyly, postaxial, type A4 oio:hasExactSynonym oio:hasRelatedSynonym postaxial polydactyly, type A4 postaxial polydactyly, type A4 postaxial polydactyly, type a4 OMIM:608562 polydactyly, postaxial, type a4 OMIM:608562 updated postaxial polydactyly, type A4 OMIM:608562 OMIM MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 35 OMIM:608565 deafness, autosomal recessive 35 MONDO:Lexical, OMIM:608565, OMIM:genemap2 updated deafness, autosomal recessive 35 OMIM:608565 OMIM MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym oio:hasNarrowSynonym DFNB35 OMIM:608565 deafness, autosomal recessive 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110493, MONDO:Lexical, OMIM:608565 updated DFNB35 OMIM:608565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012061 familial sick sinus syndrome oio:hasExactSynonym oio:hasRelatedSynonym SSS1 OMIM:608567 sick sinus syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608567 updated SSS1 OMIM:608567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1O cardiomyopathy, dilated, 1o OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569, MONDO:Lexical updated cardiomyopathy, dilated, 1O OMIM:608569 OMIM MONDO:0012062 dilated cardiomyopathy 1O oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 cardiomyopathy, dilated, 1o OMIM:608569 updated cardiomyopathy, dilated, with ventricular tachycardia OMIM:608569 OMIM MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ulnar/fibular RAY defect and brachydactyly ulnar/fibular RAY defect and brachydactyly ulnar/fibular ray defect and brachydactyly OMIM:608571 ulnar/fibular ray defect and brachydactyly OMIM:608571 updated ulnar/fibular RAY defect and brachydactyly OMIM:608571 OMIM @@ -84895,13 +82208,6 @@ MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym o MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome oio:hasExactSynonym oio:hasRelatedSynonym sudden infant death with dysgenesis of the testes syndrome OMIM:608800 sudden infant death with dysgenesis of the testes syndrome MONDO:Lexical, OMIM:608800 updated sudden infant death with dysgenesis of the testes syndrome OMIM:608800 OMIM MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym Pelizaeus-Merzbacher-like disease, 1 Pelizaeus-Merzbacher-like disease, 1 pelizaeus-merzbacher-like disease, 1 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804 updated Pelizaeus-Merzbacher-like disease, 1 OMIM:608804 OMIM MONDO:0012125 hypomyelinating leukodystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 2 OMIM:608804 leukodystrophy, hypomyelinating, 2 OMIM:608804, MONDO:Lexical updated leukodystrophy, hypomyelinating, 2 OMIM:608804 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary, 1 avascular NECROSIS of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated avascular NECROSIS of femoral head, primary, 1 OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular Necrosis of femoral head, primary, 1 avascular Necrosis of femoral head, primary, 1 avascular necrosis of femoral head, primary, 1 OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated avascular Necrosis of femoral head, primary, 1 OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, aseptic Necrosis of femoral head, aseptic Necrosis of femoral head, aseptic necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated femoral head, aseptic Necrosis of OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym femoral head, avascular Necrosis of femoral head, avascular Necrosis of femoral head, avascular necrosis of OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated femoral head, avascular Necrosis of OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ischemic Necrosis of femoral head ischemic Necrosis of femoral head ischemic necrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated ischemic Necrosis of femoral head OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym osteonecrosis of femoral head OMIM:608805 avascular necrosis of femoral head, primary, 1 OMIM:608805 updated osteonecrosis of femoral head OMIM:608805 OMIM -MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym ANFH1 OMIM:608805 avascular necrosis of femoral head, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608805 updated ANFH1 OMIM:608805 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012126 familial avascular necrosis of femoral head oio:hasExactSynonym oio:hasRelatedSynonym avascular NECROSIS of femoral head, primary avascular NECROSIS of femoral head, primary Avascular necrosis of femoral head, primary OMIMPS:608805 Avascular necrosis of femoral head, primary OMIM:608805, MONDO:Lexical updated avascular NECROSIS of femoral head, primary OMIMPS:608805 OMIM MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema oio:hasExactSynonym oio:hasRelatedSynonym LACH OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608809, MONDO:Lexical updated LACH OMIM:608809 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 2 OMIM:608810 myopathy, myofibrillar, 2 OMIM:608810, MONDO:Lexical updated myopathy, myofibrillar, 2 OMIM:608810 OMIM @@ -84928,8 +82234,6 @@ MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSyno MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:608885 updated cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly OMIM:608885 OMIM MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin oio:hasExactSynonym oio:hasRelatedSynonym SDCHCN OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608885 updated SDCHCN OMIM:608885 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym ARMD3 OMIM:608895 macular degeneration, age-related, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608895 updated ARMD3 OMIM:608895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 updated neuropathy, hereditary, with or without age-related macular Degeneration OMIM:619764 OMIM -MONDO:0012145 macular degeneration, age-related, 3 oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 charcot-marie-tooth disease, demyelinating, type 1h OMIM:608895 updated neuropathy, hereditary, with or without age-related macular degeneration OMIM:619764 OMIM MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hlh3 Hlh3 hlh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 updated Hlh3 OMIM:608898 OMIM MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym Hplh3 Hplh3 hplh3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 updated Hplh3 OMIM:608898 OMIM MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 oio:hasExactSynonym oio:hasRelatedSynonym hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 MONDO:Lexical, OMIM:608898 updated hemophagocytic lymphohistiocytosis, familial, 3 OMIM:608898 OMIM @@ -84938,7 +82242,6 @@ MONDO:0012147 coronary heart disease, susceptibility to, 5 oio:hasExactSynonym o MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, late-onset Alzheimer disease 9, late-onset alzheimer disease 9, late-onset OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 updated Alzheimer disease 9, late-onset OMIM:608907 OMIM MONDO:0012153 Alzheimer disease 9 oio:hasExactSynonym oio:hasRelatedSynonym Alzheimer disease 9, susceptibility to Alzheimer disease 9, susceptibility to alzheimer disease 9, susceptibility to OMIM:608907 alzheimer disease 9, susceptibility to OMIM:608907 updated Alzheimer disease 9, susceptibility to OMIM:608907 OMIM MONDO:0012154 myopia 6 oio:hasExactSynonym oio:hasRelatedSynonym MYP6 OMIM:608908 myopia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608908 updated MYP6 OMIM:608908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical updated PCA OMIM:105250 OMIM MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym choanal atresia, POSTERIOR choanal atresia, POSTERIOR choanal atresia, posterior OMIM:608911 choanal atresia, posterior OMIM:608911, MONDO:Lexical updated choanal atresia, POSTERIOR OMIM:608911 OMIM MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical updated PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel oio:hasExactSynonym oio:hasRelatedSynonym myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel OMIM:608930 updated myasthenic syndrome, congenital, 1B, FAST-channel OMIM:608930 OMIM @@ -84952,7 +82255,6 @@ MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, butterfly-shaped pigmentary, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 updated macular dystrophy, butterfly-Shaped pigmentary, 2 OMIM:608970 OMIM MONDO:0012162 patterned macular dystrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym macular dystrophy, patterned, 2 OMIM:608970 macular dystrophy, patterned, 2 OMIM:608970 updated macular dystrophy, patterned, 2 OMIM:608970 OMIM MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:608971 updated SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 OMIM -MONDO:0012163 immunodeficiency 104 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:608971 updated SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 OMIM MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies bifid nose with or without anorectal and renal anomalies OMIM:608980 bifid nose with or without anorectal and renal anomalies MONDO:Lexical, OMIM:608980 updated bifid NOSE with or without anorectal and renal anomalies OMIM:608980 OMIM MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym BNAR OMIM:608980 bifid nose with or without anorectal and renal anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608980 updated BNAR OMIM:608980 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym Adsa Adsa adsa OMIM:608984 ataxia, sensory, 1, autosomal dominant OMIM:608984 updated Adsa OMIM:608984 OMIM @@ -84960,12 +82262,9 @@ MONDO:0012166 autosomal dominant sensory ataxia 1 oio:hasExactSynonym oio:hasRel MONDO:0012169 premature ovarian failure 3 oio:hasExactSynonym oio:hasRelatedSynonym POF3 Pof3 POF3 OMIM:608996 premature ovarian failure 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:608996 updated POF3 OMIM:608996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006, MONDO:Lexical updated deafness, autosomal recessive 36, with or without vestibular involvement OMIM:609006 OMIM MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym oio:hasNarrowSynonym DFNB36 OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609006, MONDO:Lexical, DOID:0110494 updated DFNB36 OMIM:609006 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym trifunctional Protein deficiency trifunctional Protein deficiency trifunctional protein deficiency OMIM:609015 mitochondrial trifunctional protein deficiency 1 OMIM:609015 updated trifunctional Protein deficiency OMIM:609015 OMIM -MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym MTPD MTPD mtpd OMIM:609015 mitochondrial trifunctional protein deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609015 updated MTPD OMIM:609015 OMIM MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency OMIMPS:609015 Mitochondrial trifunctional protein deficiency OMIM:609015 updated mitochondrial trifunctional PROTEIN deficiency OMIMPS:609015 OMIM MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:609016 updated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:609016 OMIM MONDO:0012175 cataract 28 oio:hasExactSynonym oio:hasRelatedSynonym cataract, age-related cortical, 1 OMIM:609026 cataract 28 OMIM:609026 updated cataract, age-related cortical, 1 OMIM:609026 OMIM -MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:609029 updated Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 OMIM MONDO:0012176 Emanuel syndrome oio:hasExactSynonym oio:hasRelatedSynonym supernumerary Der(22)T(11 supernumerary Der(22)T(11 supernumerary der(22)t(11 OMIM:609029 emanuel syndrome OMIM:609029 updated supernumerary Der(22)T(11 OMIM:609029 OMIM MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym POSTERIOR column ataxia with retinitis pigmentosa POSTERIOR column ataxia with retinitis pigmentosa posterior column ataxia with retinitis pigmentosa OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033, MONDO:Lexical updated POSTERIOR column ataxia with retinitis pigmentosa OMIM:609033 OMIM MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pcarp Pcarp pcarp OMIM:609033 posterior column ataxia with retinitis pigmentosa OMIM:609033 updated Pcarp OMIM:609033 OMIM @@ -85007,7 +82306,6 @@ MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSyno MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia East London pseudohyperkalemia East London pseudohyperkalemia east london OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 updated pseudohyperkalemia East London OMIM:609153 OMIM MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Falkirk pseudohyperkalemia Falkirk pseudohyperkalemia falkirk OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 updated pseudohyperkalemia Falkirk OMIM:609153 OMIM MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym oio:hasRelatedSynonym pseudohyperkalemia Lille pseudohyperkalemia Lille pseudohyperkalemia lille OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak OMIM:609153 updated pseudohyperkalemia Lille OMIM:609153 OMIM -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 oio:hasExactSynonym oio:hasRelatedSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant MONDO:Lexical, OMIM:609161 updated striatal degeneration, autosomal dominant OMIMPS:609161 OMIM MONDO:0012207 umbilicus, familial flat oio:hasExactSynonym oio:hasRelatedSynonym flat umbilicus, autosomal dominant OMIM:609164 umbilicus, familial flat OMIM:609164 updated flat umbilicus, autosomal dominant OMIM:609164 OMIM MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym erythroderma, ichthyosiform, congenital reticular OMIM:609165 ichthyosis with confetti OMIM:609165, MONDO:Lexical updated erythroderma, ichthyosiform, congenital reticular OMIM:609165 OMIM MONDO:0012209 branchiogenic deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRANCHIOGENIC-deafness syndrome BRANCHIOGENIC-deafness syndrome branchiogenic-deafness syndrome OMIM:609166 branchiogenic-deafness syndrome OMIM:609166 updated BRANCHIOGENIC-deafness syndrome OMIM:609166 OMIM @@ -85018,7 +82316,6 @@ MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 5 OMIM:609192 loeys-dietz syndrome 1 OMIM:609192 updated aortic aneurysm, familial thoracic 5 OMIM:609192 OMIM MONDO:0012212 Loeys-Dietz syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LDS1 OMIM:609192 loeys-dietz syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609192 updated LDS1 OMIM:609192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012213 hereditary spastic paraplegia 26 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 26, autosomal recessive OMIM:609195 spastic paraplegia 26, autosomal recessive OMIM:609195, MONDO:Lexical updated spastic paraplegia 26, autosomal recessive OMIM:609195 OMIM -MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2 OMIM:607398 glucocorticoid deficiency 2 OMIM:609197 updated glucocorticoid deficiency 2 OMIM:607398 OMIM MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym familial glucocorticoid deficiency 3 OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 updated familial glucocorticoid deficiency 3 OMIM:609197 OMIM MONDO:0012214 glucocorticoid deficiency 3 oio:hasExactSynonym oio:hasRelatedSynonym glucocorticoid deficiency 2, formerly OMIM:609197 glucocorticoid deficiency 3 OMIM:609197 updated glucocorticoid deficiency 2, formerly OMIM:609197 OMIM MONDO:0012215 myofibrillar myopathy 3 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, myofibrillar, 3 OMIM:609200 myopathy, myofibrillar, 3 OMIM:609200, MONDO:Lexical updated myopathy, myofibrillar, 3 OMIM:609200 OMIM @@ -85059,7 +82356,6 @@ MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 oio:hasExactSynonym o MONDO:0012237 nemaline myopathy 6 oio:hasExactSynonym oio:hasRelatedSynonym NEM6 OMIM:609273 nemaline myopathy 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609273 updated NEM6 OMIM:609273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM:609283 updated progressive external ophthalmoplegia, autosomal dominant 2 OMIM:609283 OMIM MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym PEOA2 OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609283, MONDO:Lexical updated PEOA2 OMIM:609283 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012239 congenital myopathy 4B, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym nemaline myopathy 1 OMIM:255310 congenital myopathy 4a, autosomal dominant MONDO:Lexical, OMIM:609284 updated nemaline myopathy 1 OMIM:255310 OMIM MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM:609286 updated progressive external ophthalmoplegia, autosomal dominant 3 OMIM:609286 OMIM MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 oio:hasExactSynonym oio:hasRelatedSynonym PEOA3 OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609286, MONDO:Lexical updated PEOA3 OMIM:609286 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012242 syncope, familial vasovagal oio:hasExactSynonym oio:hasRelatedSynonym syncope, familial Neurocardiogenic syncope, familial Neurocardiogenic syncope, familial neurocardiogenic OMIM:609289 syncope, familial vasovagal OMIM:609289 updated syncope, familial Neurocardiogenic OMIM:609289 OMIM @@ -85150,7 +82446,6 @@ MONDO:0012314 short QT syndrome type 3 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012315 distal 10q deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym terminal chromosome 10Q26 deletion syndrome terminal chromosome 10Q26 deletion syndrome terminal chromosome 10q26 deletion syndrome OMIM:609625 chromosome 10q26 deletion syndrome OMIM:609625 updated terminal chromosome 10Q26 deletion syndrome OMIM:609625 OMIM MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome majeed syndrome OMIM:609628 majeed syndrome OMIM:609628 updated MAJEED syndrome OMIM:609628 OMIM MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MJDS OMIM:609628 majeed syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609628 updated MJDS OMIM:609628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, idiopathic intestinal OMIM:155310 visceral myopathy 1 OMIM:609629 updated pseudoobstruction, idiopathic intestinal OMIM:155310 OMIM MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym enteric neuropathy, familial OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 updated enteric neuropathy, familial OMIM:609629 OMIM MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant OMIM:609629 updated pseudoobstruction, chronic intestinal, neuropathic OMIM:609629 OMIM MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym Clls1 Clls1 clls1 OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 OMIM:609630 updated Clls1 OMIM:609630 OMIM @@ -85184,7 +82479,6 @@ MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 22, multiple types OMIM:609741 cataract 22, multiple types OMIM:609741, MONDO:Lexical updated cataract 22, multiple types OMIM:609741 OMIM MONDO:0012336 cataract 22 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 cataract 22, multiple types OMIM:609741 updated cataract, congenital nuclear, autosomal recessive 2 OMIM:609741 OMIM MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:609750 updated epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 OMIM -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:609750 updated epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 OMIM MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 celiac disease, susceptibility to, 4 OMIM:609753 updated gluten-sensitive enteropathy, susceptibility to, 4 OMIM:609753 OMIM MONDO:0012339 celiac disease, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym CELIAC4 OMIM:609753 celiac disease, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609753 updated CELIAC4 OMIM:609753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012340 celiac disease, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 celiac disease, susceptibility to, 2 OMIM:609754 updated gluten-sensitive enteropathy, susceptibility to, 2 OMIM:609754 OMIM @@ -85218,9 +82512,6 @@ MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynon MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym oio:hasNarrowSynonym DFNB28 OMIM:609823 deafness, autosomal recessive 28 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609823, DOID:0110486 updated DFNB28 OMIM:609823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012358 leprosy, susceptibility to, 1 oio:hasExactSynonym oio:hasRelatedSynonym leprosy, Paucibacillary type, susceptibility to, 1 leprosy, Paucibacillary type, susceptibility to, 1 leprosy, paucibacillary type, susceptibility to, 1 OMIM:609888 leprosy, susceptibility to, 1 OMIM:609888 updated leprosy, Paucibacillary type, susceptibility to, 1 OMIM:609888 OMIM MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM:609889 updated alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity OMIM:609889 OMIM -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 updated resistance to thyrotropin OMIM:218700 OMIM -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:609893 updated thyrotropin resistance OMIM:218700 OMIM -MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:609893 updated thyrotropin resistance OMIM:275200 OMIM MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 updated resistance to thyrotropin OMIM:609893 OMIM MONDO:0012360 congenital nongoitrous hypothyroidism 3 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:609893 updated thyrotropin resistance OMIM:609893 OMIM MONDO:0012364 dilated cardiomyopathy 1Q oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1Q cardiomyopathy, dilated, 1q OMIM:609915 cardiomyopathy, dilated, 1q MONDO:Lexical, OMIM:609915 updated cardiomyopathy, dilated, 1Q OMIM:609915 OMIM @@ -85238,9 +82529,6 @@ MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynony MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 oio:hasExactSynonym oio:hasNarrowSynonym DFNA53 OMIM:609965 deafness, autosomal dominant 53 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609965, DOID:0110579 updated DFNA53 OMIM:609965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968, MONDO:Lexical updated hyperinsulinemic hypoglycemia, familial, 5 OMIM:609968 OMIM MONDO:0012381 hyperinsulinism due to INSR deficiency oio:hasExactSynonym oio:hasRelatedSynonym HHF5 OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609968 updated HHF5 OMIM:609968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 updated 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 OMIM -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HADH deficiency HADH deficiency hadh deficiency OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency GARD:0009870, MESH:C535310, OMIM:231530 updated HADH deficiency OMIM:231530 OMIM -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency, formerly SCHAD deficiency, formerly schad deficiency, formerly OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency OMIM:231530 updated SCHAD deficiency, formerly OMIM:231530 OMIM MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym HHF4 OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:609975 updated HHF4 OMIM:609975 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 54 OMIM:609981 immunodeficiency 54 OMIM:609981 updated immunodeficiency 54 OMIM:609981 OMIM MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural killer cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 immunodeficiency 54 OMIM:609981, MONDO:Lexical updated natural KILLER cell and glucocorticoid deficiency with DNA repair defect OMIM:609981 OMIM @@ -85254,7 +82542,6 @@ MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym me MONDO:0012386 trichoscyphodysplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 trichoscyphodysplasia OMIM:609990 updated metaphyseal chondrodysplasia with ectodermal dysplasia OMIM:609990 OMIM MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 updated osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 OMIM MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome oio:hasExactSynonym oio:hasRelatedSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure OMIM:609993 updated sclerosing dysplasia of bone with ichthyosis and premature ovarian failure OMIM:609993 OMIM -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym CLN8 OMIM:600143 ceroid lipofuscinosis, neuronal, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004010 updated CLN8 OMIM:600143 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM:610003 updated ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant OMIM:610003 OMIM MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, progressive, with mental retardation OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:610003 updated epilepsy, progressive, with mental retardation OMIM:610003 OMIM MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym 2-methylbutyryl Glycinuria 2-methylbutyryl Glycinuria 2-methylbutyryl glycinuria OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency OMIM:610006 updated 2-methylbutyryl Glycinuria OMIM:610006 OMIM @@ -85282,7 +82569,6 @@ MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:ha MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, PLP-sensitive seizures, pyridoxine-resistant, plp-sensitive OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency OMIM:610090 updated seizures, pyridoxine-resistant, PLP-sensitive OMIM:610090 OMIM MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym PNPOD OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610090 updated PNPOD OMIM:610090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012408 microphthalmia, isolated, with coloboma 3 oio:hasExactSynonym oio:hasRelatedSynonym MCOPCB3 OMIM:610092 microphthalmia/coloboma 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610092, MONDO:Lexical updated MCOPCB3 OMIM:610092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:251600 microphthalmia, isolated 1 OMIM:610093 updated anophthalmia, clinical, isolated OMIM:251600 OMIM MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym anophthalmia, clinical, isolated OMIM:610093 microphthalmia, isolated 2 OMIM:610093 updated anophthalmia, clinical, isolated OMIM:610093 OMIM MONDO:0012409 isolated microphthalmia 2 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia, isolated 2 OMIM:610093 microphthalmia, isolated 2 OMIM:610093, MONDO:Lexical updated microphthalmia, isolated 2 OMIM:610093 OMIM MONDO:0012410 Finnish upper limb-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, distal, 3 OMIM:610099 myopathy, distal, 3 MONDO:Lexical, OMIM:610099 updated myopathy, distal, 3 OMIM:610099 OMIM @@ -85309,11 +82595,6 @@ MONDO:0012423 MORM syndrome oio:hasExactSynonym oio:hasRelatedSynonym MORMS OM MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym Fcd1 locus Fcd1 locus fcd1 locus OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 updated Fcd1 locus OMIM:610158 OMIM MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158, MONDO:Lexical updated corneal dystrophy, Fuchs endothelial, 2 OMIM:610158 OMIM MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:610158 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM MONDO:0012426 immunodeficiency 25 oio:hasExactSynonym oio:hasRelatedSynonym IMD25 OMIM:610163 immunodeficiency 25 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610163 updated IMD25 OMIM:610163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Marfan syndrome, type II, formerly Marfan syndrome, type II, formerly marfan syndrome, type ii, formerly OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 updated Marfan syndrome, type II, formerly OMIM:610168 OMIM MONDO:0012427 Loeys-Dietz syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic 3 OMIM:610168 loeys-dietz syndrome 2 OMIM:610168 updated aortic aneurysm, familial thoracic 3 OMIM:610168 OMIM @@ -85414,14 +82695,12 @@ MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:has MONDO:0012498 congenital stationary night blindness autosomal dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, rhodopsin-related OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 OMIM:610445 updated night blindness, congenital stationary, rhodopsin-related OMIM:610445 OMIM MONDO:0012499 Buruli ulcer, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym Mycobacterium ulcerans, susceptibility to Mycobacterium ulcerans, susceptibility to mycobacterium ulcerans, susceptibility to OMIM:610446 buruli ulcer, susceptibility to OMIM:610446 updated Mycobacterium ulcerans, susceptibility to OMIM:610446 OMIM MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasRelatedSynonym CHBL1 OMIM:610448 chilblain lupus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610448 updated CHBL1 OMIM:610448 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012500 chilblain lupus 1 oio:hasExactSynonym oio:hasBroadSynonym chilblain lupus chilblain lupus Chilblain lupus OMIMPS:610448 Chilblain lupus OMIM:610448, OMIM:genemap2 updated chilblain lupus OMIMPS:610448 OMIM MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with Normophosphatemia calcinosis, tumoral, with normophosphatemia OMIM:610455 tumoral calcinosis, normophosphatemic, familial OMIM:610455 updated calcinosis, tumoral, with Normophosphatemia OMIM:610455 OMIM MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym tumoral calcinosis, normophosphatemic, familial OMIM:610455 tumoral calcinosis, normophosphatemic, familial MONDO:Lexical, OMIM:610455 updated tumoral calcinosis, normophosphatemic, familial OMIM:610455 OMIM MONDO:0012502 normophosphatemic familial tumoral calcinosis oio:hasExactSynonym oio:hasRelatedSynonym NFTC OMIM:610455 tumoral calcinosis, normophosphatemic, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:610455 updated NFTC OMIM:610455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of, 1 Thiopurines, poor metabolism of, 1 thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 updated Thiopurines, poor metabolism of, 1 OMIM:610460 OMIM MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym thiopurines, poor metabolism of, 1 OMIM:610460 thiopurines, poor metabolism of, 1 OMIM:610460 updated thiopurines, poor metabolism of, 1 OMIM:610460 OMIM MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym THPM1 OMIM:610460 thiopurines, poor metabolism of, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610460 updated THPM1 OMIM:610460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Thiopurines, poor metabolism of OMIMPS:610460 Thiopurines, poor metabolism of OMIM:610460 updated Thiopurines, poor metabolism of OMIMPS:610460 OMIM MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 updated camptodactyly, tall stature, and hearing loss syndrome OMIM:610474 OMIM MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome oio:hasExactSynonym oio:hasRelatedSynonym CATSHLS OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610474 updated CATSHLS OMIM:610474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Cushing syndrome, adrenal, due to PPNAD2 Cushing syndrome, adrenal, due to PPNAD2 cushing syndrome, adrenal, due to ppnad2 OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 OMIM:610475 updated Cushing syndrome, adrenal, due to PPNAD2 OMIM:610475 OMIM @@ -85456,7 +82735,6 @@ MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRela MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 updated diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a OMIM:610549 OMIM MONDO:0012520 insulin-resistance syndrome type A oio:hasExactSynonym oio:hasRelatedSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans OMIM:610549 updated insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans OMIM:610549 OMIM MONDO:0012522 diabetes mellitus, transient neonatal, 3 oio:hasExactSynonym oio:hasRelatedSynonym Tndm3 Tndm3 tndm3 OMIM:610582 diabetes mellitus, transient neonatal, 3 OMIM:610582 updated Tndm3 OMIM:610582 OMIM -MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 corticosterone methyloxidase type 1 deficiency OMIM:610600 updated hyperreninemic hypoaldosteronism, familial, 1 OMIM:203400 OMIM MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym 18-oxidase deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 updated 18-oxidase deficiency OMIM:610600 OMIM MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cmo 2 deficiency Cmo 2 deficiency cmo 2 deficiency OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 updated Cmo 2 deficiency OMIM:610600 OMIM MONDO:0012524 corticosterone methyloxidase type 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym aldosterone deficiency 2 OMIM:610600 corticosterone methyloxidase type 2 deficiency OMIM:610600 updated aldosterone deficiency 2 OMIM:610600 OMIM @@ -85601,15 +82879,8 @@ MONDO:0012638 microphthalmia-brain atrophy syndrome oio:hasExactSynonym oio:hasR MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and Joint contractures intellectual disability, motor dysfunction, and joint contractures OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225 updated intellectual disability, motor dysfunction, and Joint contractures OMIM:611225 OMIM MONDO:0012639 hereditary spastic paraplegia 18 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 18, autosomal recessive OMIM:611225 spastic paraplegia 18b, autosomal recessive OMIM:611225, MONDO:Lexical updated spastic paraplegia 18, autosomal recessive OMIM:611225 OMIM MONDO:0012640 Charcot-Marie-Tooth disease type 4J oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, autosomal recessive, type 4J Charcot-Marie-Tooth disease, autosomal recessive, type 4J charcot-marie-tooth disease, autosomal recessive, type 4j OMIM:611228 charcot-marie-tooth disease, demyelinating, type 4j OMIM:611228 updated Charcot-Marie-Tooth disease, autosomal recessive, type 4J OMIM:611228 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611247 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611247 updated bipolar affective disorder OMIM:309200 OMIM MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 4 MAJOR affective disorder 4 major affective disorder 4 OMIM:611247 major affective disorder 4 OMIM:611247 updated MAJOR affective disorder 4 OMIM:611247 OMIM MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611247 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611247 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611247 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611247 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611247 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0012642 major affective disorder 4 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611247 updated bipolar affective disorder OMIM:612372 OMIM MONDO:0012643 hereditary spastic paraplegia 32 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 32, autosomal recessive OMIM:611252 spastic paraplegia 32, autosomal recessive MONDO:Lexical, OMIM:611252 updated spastic paraplegia 32, autosomal recessive OMIM:611252 OMIM MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acad8 deficiency Acad8 deficiency acad8 deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 updated Acad8 deficiency OMIM:611283 OMIM MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym IBD deficiency IBD deficiency ibd deficiency OMIM:611283 isobutyryl-coa dehydrogenase deficiency OMIM:611283 updated IBD deficiency OMIM:611283 OMIM @@ -85654,24 +82925,10 @@ MONDO:0012681 febrile seizures, familial, 7 oio:hasExactSynonym oio:hasRelatedSy MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523 updated encephalopathy, fatal infantile, with mitochondrial respiratory chain defects OMIM:611523 OMIM MONDO:0012683 pontocerebellar hypoplasia type 6 oio:hasExactSynonym oio:hasRelatedSynonym pontocerebellar hypoplasia, type 6 OMIM:611523 pontocerebellar hypoplasia, type 6 OMIM:611523, MONDO:Lexical updated pontocerebellar hypoplasia, type 6 OMIM:611523 OMIM MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 oio:hasExactSynonym oio:hasRelatedSynonym arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528, MONDO:Lexical updated arrhythmogenic right ventricular dysplasia, familial, 12 OMIM:611528 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611535 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611535 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611535 updated bipolar affective disorder OMIM:611247 OMIM MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 5 MAJOR affective disorder 5 major affective disorder 5 OMIM:611535 major affective disorder 5 OMIM:611535 updated MAJOR affective disorder 5 OMIM:611535 OMIM MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611535 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611535 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611535 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611535 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0012685 major affective disorder 5 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611535 updated bipolar affective disorder OMIM:612372 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:611536 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:611536 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:611536 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:611536 updated bipolar affective disorder OMIM:611535 OMIM MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 6 MAJOR affective disorder 6 major affective disorder 6 OMIM:611536 major affective disorder 6 OMIM:611536 updated MAJOR affective disorder 6 OMIM:611536 OMIM MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:611536 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:611536 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:611536 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0012686 major affective disorder 6 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:611536 updated bipolar affective disorder OMIM:612372 OMIM MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym cavitary optic DISC anomalies cavitary optic DISC anomalies cavitary optic disc anomalies OMIM:611543 cavitary optic disc anomalies OMIM:611543, MONDO:Lexical updated cavitary optic DISC anomalies OMIM:611543 OMIM MONDO:0012687 familial cavitary optic disk anomaly oio:hasExactSynonym oio:hasRelatedSynonym CODA OMIM:611543 cavitary optic disc anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:611543 updated CODA OMIM:611543 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012688 cataract 17 multiple types oio:hasExactSynonym oio:hasRelatedSynonym cataract 17, multiple types OMIM:611544 cataract 17, multiple types OMIM:611544, MONDO:Lexical updated cataract 17, multiple types OMIM:611544 OMIM @@ -85766,7 +83023,6 @@ MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym oio:ha MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 updated immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis OMIM:611926 OMIM MONDO:0012758 prostate cancer, hereditary, 13 oio:hasExactSynonym oio:hasRelatedSynonym HPC13 OMIM:611928 prostate cancer, hereditary, 13 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:611928, MONDO:Lexical updated HPC13 OMIM:611928 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 camptodactyly syndrome, guadalajara, type 3 OMIM:611929 updated camptodactyly syndrome, Guadalajara, type 3 OMIM:611929 OMIM -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 OMIM:611934 updated epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750 OMIM MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 OMIM:611934 updated epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:611934 OMIM MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 3q29 DUPLICATION syndrome chromosome 3q29 DUPLICATION syndrome chromosome 3q29 duplication syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 updated chromosome 3q29 DUPLICATION syndrome OMIM:611936 OMIM MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym microduplication 3Q29 syndrome microduplication 3Q29 syndrome microduplication 3q29 syndrome OMIM:611936 chromosome 3q29 duplication syndrome OMIM:611936 updated microduplication 3Q29 syndrome OMIM:611936 OMIM @@ -85886,34 +83142,13 @@ MONDO:0012874 porokeratosis 6, disseminated superficial actinic type oio:hasExac MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf 2 deficiency Hcf 2 deficiency hcf 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 updated Hcf 2 deficiency OMIM:612356 OMIM MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Hcf2 deficiency Hcf2 deficiency hcf2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 updated Hcf2 deficiency OMIM:612356 OMIM MONDO:0012876 heparin cofactor 2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 heparin cofactor 2 deficiency OMIM:612356 updated thrombophilia due to heparin cofactor 2 deficiency OMIM:612356 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612357 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612357 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612357 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612357 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612357 updated bipolar affective disorder OMIM:611536 OMIM MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 8 MAJOR affective disorder 8 major affective disorder 8 OMIM:612357 major affective disorder 8 OMIM:612357 updated MAJOR affective disorder 8 OMIM:612357 OMIM MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612357 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612357 updated bipolar affective disorder OMIM:612371 OMIM -MONDO:0012877 major affective disorder 8 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612357 updated bipolar affective disorder OMIM:612372 OMIM MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym Sczd14 Sczd14 sczd14 OMIM:612361 schizophrenia 14 OMIM:612361 updated Sczd14 OMIM:612361 OMIM MONDO:0012879 schizophrenia 14 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia susceptibility locus, chromosome 2q32-related OMIM:612361 schizophrenia 14 OMIM:612361 updated schizophrenia susceptibility locus, chromosome 2Q32-related OMIM:612361 OMIM MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia oio:hasExactSynonym oio:hasRelatedSynonym HH5 OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612370, MONDO:Lexical updated HH5 OMIM:612370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612371 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612371 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612371 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612371 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612371 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612371 updated bipolar affective disorder OMIM:612357 OMIM MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612371 updated bipolar affective disorder OMIM:612371 OMIM MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym MAFD7 OMIM:612371 major affective disorder 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612371, MONDO:Lexical updated MAFD7 OMIM:612371 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012881 major affective disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612371 updated bipolar affective disorder OMIM:612372 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:125480 major affective disorder 1 OMIM:612372 updated bipolar affective disorder OMIM:125480 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:309200 major affective disorder 2 OMIM:612372 updated bipolar affective disorder OMIM:309200 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611247 major affective disorder 4 OMIM:612372 updated bipolar affective disorder OMIM:611247 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611535 major affective disorder 5 OMIM:612372 updated bipolar affective disorder OMIM:611535 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:611536 major affective disorder 6 OMIM:612372 updated bipolar affective disorder OMIM:611536 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612357 major affective disorder 8 OMIM:612372 updated bipolar affective disorder OMIM:612357 OMIM -MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612371 major affective disorder 7 OMIM:612372 updated bipolar affective disorder OMIM:612371 OMIM MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym MAJOR affective disorder 9 MAJOR affective disorder 9 major affective disorder 9 OMIM:612372 major affective disorder 9 OMIM:612372 updated MAJOR affective disorder 9 OMIM:612372 OMIM MONDO:0012882 major affective disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bipolar affective disorder OMIM:612372 major affective disorder 9 OMIM:612372 updated bipolar affective disorder OMIM:612372 OMIM MONDO:0012883 acute promyelocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute promyelocytic OMIM:612376 acute promyelocytic leukemia OMIM:612376 updated leukemia, acute promyelocytic OMIM:612376 OMIM @@ -85981,15 +83216,12 @@ MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 oio:hasExact MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym Clls3 Clls3 clls3 OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 OMIM:612557 updated Clls3 OMIM:612557 OMIM MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym Clls4 Clls4 clls4 OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 OMIM:612558 updated Clls4 OMIM:612558 OMIM MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym Clls5 Clls5 clls5 OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 OMIM:612559 updated Clls5 OMIM:612559 OMIM -MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:105650 diamond-blackfan anemia 1 OMIM:612561 updated Aase-Smith syndrome 2 OMIM:105650 OMIM MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym Aase-Smith syndrome 2 Aase-Smith syndrome 2 aase-smith syndrome 2 OMIM:612561 diamond-blackfan anemia 6 OMIM:612561 updated Aase-Smith syndrome 2 OMIM:612561 OMIM MONDO:0012937 Diamond-Blackfan anemia 6 oio:hasExactSynonym oio:hasRelatedSynonym DBA6 OMIM:612561 diamond-blackfan anemia 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612561 updated DBA6 OMIM:612561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012938 Diamond-Blackfan anemia 7 oio:hasExactSynonym oio:hasRelatedSynonym DBA7 OMIM:612562 diamond-blackfan anemia 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612562 updated DBA7 OMIM:612562 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012939 Diamond-Blackfan anemia 8 oio:hasExactSynonym oio:hasRelatedSynonym DBA8 OMIM:612563 diamond-blackfan anemia 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612563 updated DBA8 OMIM:612563 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease 25, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive MONDO:Lexical, OMIM:612567 updated inflammatory bowel disease 25, autosomal recessive OMIM:612567 OMIM MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:612567 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 OMIM -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:612567 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 OMIM -MONDO:0012941 inflammatory bowel disease 25 oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:612567 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 OMIM MONDO:0012942 lung cancer susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of lung, susceptibility to OMIM:612571 lung cancer susceptibility 3 OMIM:612571 updated adenocarcinoma of lung, susceptibility to OMIM:612571 OMIM MONDO:0012943 retinitis pigmentosa 46 oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa, autosomal recessive, idh3b-related OMIM:612572 retinitis pigmentosa 46 OMIM:612572 updated retinitis pigmentosa, autosomal recessive, Idh3B-related OMIM:612572 OMIM MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation with long bone deficiency 3 OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome OMIM:612576 updated split-hand/foot malformation with long bone deficiency 3 OMIM:612576 OMIM @@ -86004,39 +83236,20 @@ MONDO:0012953 colorectal cancer, susceptibility to, 10 oio:hasExactSynonym oio:h MONDO:0012954 colorectal cancer, susceptibility to, 11 oio:hasExactSynonym oio:hasRelatedSynonym colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, on chromosome 20p OMIM:612592 colorectal cancer, susceptibility to, 11 OMIM:612592 updated colorectal cancer, susceptibility to, on chromosome 20P OMIM:612592 OMIM MONDO:0012960 intellectual disability, autosomal dominant 5 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 5 OMIM:612621 intellectual developmental disorder, autosomal dominant 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:612621 updated mental retardation, autosomal dominant 5 OMIM:612621 OMIM MONDO:0012961 type 1 diabetes mellitus 23 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, insulin-dependent, 23 OMIM:612622 type 1 diabetes mellitus 23 MONDO:Lexical, OMIM:612622 updated diabetes mellitus, insulin-dependent, 23 OMIM:612622 OMIM -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612623 updated proliferative retinopathy, diabetic, susceptibility to OMIM:603933 OMIM MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 updated end-stage renal disease, diabetic, susceptibility to OMIM:612623 OMIM MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612623 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612623 OMIM MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym MVCD2 OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612623 updated MVCD2 OMIM:612623 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612623 updated end-stage renal disease, diabetic, susceptibility to OMIM:612624 OMIM -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612623 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612635 OMIM -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612624 updated end-stage renal disease, diabetic, susceptibility to OMIM:612623 OMIM MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym end-stage renal disease, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 updated end-stage renal disease, diabetic, susceptibility to OMIM:612624 OMIM MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612624 updated nephropathy, diabetic, susceptibility to OMIM:612624 OMIM MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym MVCD3 OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612624 updated MVCD3 OMIM:612624 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612624 updated nephropathy, diabetic, susceptibility to OMIM:612628 OMIM -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612624 updated nephropathy, diabetic, susceptibility to OMIM:612634 OMIM -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612624 updated nephropathy, diabetic, susceptibility to OMIM:612635 OMIM MONDO:0012965 seizures, benign familial infantile, 4 oio:hasExactSynonym oio:hasRelatedSynonym convulsions, benign familial infantile, 4 OMIM:612627 seizures, benign familial infantile, 4 OMIM:612627 updated convulsions, benign familial infantile, 4 OMIM:612627 OMIM -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612628 updated nephropathy, diabetic, susceptibility to OMIM:612624 OMIM MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612628 updated nephropathy, diabetic, susceptibility to OMIM:612628 OMIM MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym MVCD4 OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612628 updated MVCD4 OMIM:612628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612628 updated nephropathy, diabetic, susceptibility to OMIM:612634 OMIM -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612628 updated nephropathy, diabetic, susceptibility to OMIM:612635 OMIM MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ADENYLATE KINASE deficiency, hemolytic anemia due to ADENYLATE KINASE deficiency, hemolytic anemia due to adenylate kinase deficiency, hemolytic anemia due to OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 OMIM:612631 updated ADENYLATE KINASE deficiency, hemolytic anemia due to OMIM:612631 OMIM MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym retinopathy, diabetic, susceptibility to OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 OMIM:612633 updated retinopathy, diabetic, susceptibility to OMIM:612633 OMIM MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 oio:hasExactSynonym oio:hasRelatedSynonym MVCD5 OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612633 updated MVCD5 OMIM:612633 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612634 updated nephropathy, diabetic, susceptibility to OMIM:612624 OMIM -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612634 updated nephropathy, diabetic, susceptibility to OMIM:612628 OMIM MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612634 updated nephropathy, diabetic, susceptibility to OMIM:612634 OMIM MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym MVCD6 OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:612634 updated MVCD6 OMIM:612634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612634 updated nephropathy, diabetic, susceptibility to OMIM:612635 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 updated nonproliferative retinopathy, diabetic, susceptibility to OMIM:603933 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 OMIM:612635 updated proliferative retinopathy, diabetic, susceptibility to OMIM:603933 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 OMIM:612635 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612623 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 OMIM:612635 updated nephropathy, diabetic, susceptibility to OMIM:612624 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 OMIM:612635 updated nephropathy, diabetic, susceptibility to OMIM:612628 OMIM -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 OMIM:612635 updated nephropathy, diabetic, susceptibility to OMIM:612634 OMIM MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nephropathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 updated nephropathy, diabetic, susceptibility to OMIM:612635 OMIM MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 updated nonproliferative retinopathy, diabetic, susceptibility to OMIM:612635 OMIM MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym proliferative retinopathy, diabetic, susceptibility to OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 OMIM:612635 updated proliferative retinopathy, diabetic, susceptibility to OMIM:612635 OMIM @@ -86169,7 +83382,6 @@ MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit de MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oio:hasExactSynonym oio:hasRelatedSynonym GSD11 OMIM:612933 glycogen storage disease 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#AMBIGUOUS OMIM:612933, MESH:C538133 updated GSD11 OMIM:612933 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 spastic paraplegia 50, autosomal recessive OMIM:612936 updated cerebral palsy, spastic quadriplegic, 3, formerly OMIM:612936 OMIM MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym spastic paraplegia 50, autosomal recessive OMIM:612936 spastic paraplegia 50, autosomal recessive MONDO:Lexical, OMIM:612936 updated spastic paraplegia 50, autosomal recessive OMIM:612936 OMIM -MONDO:0013048 hereditary spastic paraplegia 50 oio:hasExactSynonym oio:hasRelatedSynonym cerebral palsy, spastic quadriplegic, 3 OMIM:617008 cerebral palsy, spastic quadriplegic, 3 OMIM:612936 updated cerebral palsy, spastic quadriplegic, 3 OMIM:617008 OMIM MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym CDG Io CDG Io cdg io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 updated CDG Io OMIM:612937 OMIM MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym Cdg1(Dpm3) Cdg1(Dpm3) cdg1(dpm3) OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937 updated Cdg1(Dpm3) OMIM:612937 OMIM MONDO:0013049 DPM3-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type Io congenital disorder of glycosylation, type io OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 OMIM:612937, MONDO:Lexical updated congenital disorder of glycosylation, type Io OMIM:612937 OMIM @@ -86218,10 +83430,8 @@ MONDO:0013079 primary biliary cholangitis 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym biliary cirrhosis, primary, 3 OMIM:613008 biliary cirrhosis, primary, 3 OMIM:613008, MONDO:Lexical updated biliary cirrhosis, primary, 3 OMIM:613008 OMIM MONDO:0013080 primary biliary cholangitis 3 oio:hasExactSynonym oio:hasRelatedSynonym PBC3 OMIM:613008 biliary cirrhosis, primary, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613008, MONDO:Lexical updated PBC3 OMIM:613008 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013083 neuroblastoma, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym NBLST3 OMIM:613014 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613014, MONDO:Lexical updated NBLST3 OMIM:613014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613021 updated cystic fibrosis-like syndrome OMIM:211400 OMIM MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613021 updated cystic fibrosis-like syndrome OMIM:613021 OMIM MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym BESC2 OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613021 updated BESC2 OMIM:613021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613021 updated cystic fibrosis-like syndrome OMIM:613071 OMIM MONDO:0013091 glycogen storage disease IXc oio:hasExactSynonym oio:hasRelatedSynonym GSD IXc GSD IXc gsd ixc OMIM:613027 glycogen storage disease ixc OMIM:613027 updated GSD IXc OMIM:613027 OMIM MONDO:0013092 glioma susceptibility 2 oio:hasExactSynonym oio:hasRelatedSynonym GLM2 OMIM:613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613028, MONDO:Lexical updated GLM2 OMIM:613028 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013093 glioma susceptibility 3 oio:hasExactSynonym oio:hasRelatedSynonym GLM3 OMIM:613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613029, MONDO:Lexical updated GLM3 OMIM:613029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -86231,8 +83441,6 @@ MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 oio:hasExactSyno MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 MONDO:Lexical, OMIM:613067 updated leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067 OMIM MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym ALL2 OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613067, MONDO:Lexical updated ALL2 OMIM:613067 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency oio:hasExactSynonym oio:hasRelatedSynonym neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegeneration due to cerebral folate transport deficiency OMIM:613068 neurodegeneration due to cerebral folate transport deficiency OMIM:613068 updated neurodegeneration due to cerebral folate TRANSPORT deficiency OMIM:613068 OMIM -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 OMIM:613071 updated cystic fibrosis-like syndrome OMIM:211400 OMIM -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 OMIM:613071 updated cystic fibrosis-like syndrome OMIM:613021 OMIM MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym cystic fibrosis-like syndrome OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 OMIM:613071 updated cystic fibrosis-like syndrome OMIM:613071 OMIM MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 oio:hasExactSynonym oio:hasRelatedSynonym BESC3 OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613071, MONDO:Lexical updated BESC3 OMIM:613071 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013113 metaphyseal anadysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym MANDP2 OMIM:613073 metaphyseal anadysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613073 updated MANDP2 OMIM:613073 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -86320,11 +83528,8 @@ MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oi MONDO:0013180 asthma-related traits, susceptibility to, 8 oio:hasExactSynonym oio:hasRelatedSynonym ASRT8 OMIM:613207 asthma-related traits, susceptibility to, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613207, MONDO:Lexical updated ASRT8 OMIM:613207 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 oio:hasExactSynonym oio:hasRelatedSynonym amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 OMIM:613211, MONDO:Lexical updated amelogenesis imperfecta, hypomaturation type, IIA3 OMIM:613211 OMIM MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome OMIM:613215 updated chromosome 17p13.3, centromeric, DUPLICATION syndrome OMIM:613215 OMIM -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613216 updated CSNB, complete, autosomal recessive OMIM:257270 OMIM MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613216 updated CSNB, complete, autosomal recessive OMIM:613216 OMIM MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1C night blindness, congenital stationary, type 1c OMIM:613216 night blindness, congenital stationary, type 1c MONDO:Lexical, OMIM:613216 updated night blindness, congenital stationary, type 1C OMIM:613216 OMIM -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613216 updated CSNB, complete, autosomal recessive OMIM:613830 OMIM -MONDO:0013183 congenital stationary night blindness 1C oio:hasExactSynonym oio:hasRelatedSynonym CSNB, complete, autosomal recessive CSNB, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613216 updated CSNB, complete, autosomal recessive OMIM:614565 OMIM MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym diarrhea 5, with tufting enteropathy, congenital OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217, MONDO:Lexical updated diarrhea 5, with tufting enteropathy, congenital OMIM:613217 OMIM MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym enteropathy, congenital tufting OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 updated enteropathy, congenital tufting OMIM:613217 OMIM MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym oio:hasRelatedSynonym intestinal epithelial cell dysplasia OMIM:613217 diarrhea 5, with tufting enteropathy, congenital OMIM:613217 updated intestinal epithelial cell dysplasia OMIM:613217 OMIM @@ -86343,41 +83548,16 @@ MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013201 Waardenburg syndrome type 4B oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4B, with Hirschsprung disease Waardenburg syndrome, type 4B, with Hirschsprung disease waardenburg syndrome, type 4b, with hirschsprung disease OMIM:613265 waardenburg syndrome, type 4b OMIM:613265 updated Waardenburg syndrome, type 4B, with Hirschsprung disease OMIM:613265 OMIM MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome with Hirschsprung disease, type 4C Waardenburg syndrome with Hirschsprung disease, type 4C waardenburg syndrome with hirschsprung disease, type 4c OMIM:613266 waardenburg syndrome, type 4c OMIM:613266 updated Waardenburg syndrome with Hirschsprung disease, type 4C OMIM:613266 OMIM MONDO:0013202 Waardenburg syndrome type 4C oio:hasExactSynonym oio:hasRelatedSynonym Waardenburg syndrome, type 4C Waardenburg syndrome, type 4C waardenburg syndrome, type 4c OMIM:613266 waardenburg syndrome, type 4c MONDO:Lexical, OMIM:613266 updated Waardenburg syndrome, type 4C OMIM:613266 OMIM -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym Fcd2 locus Fcd2 locus fcd2 locus OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 updated Fcd2 locus OMIM:613267 OMIM MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym FECD3 OMIM:613267 corneal dystrophy, fuchs endothelial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613267, MONDO:Lexical updated FECD3 OMIM:613267 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613267 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym FECD4 OMIM:613268 corneal dystrophy, fuchs endothelial, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613268, MONDO:Lexical updated FECD4 OMIM:613268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613268 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym Fcd3 locus Fcd3 locus fcd3 locus OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 updated Fcd3 locus OMIM:613269 OMIM MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269, MONDO:Lexical updated corneal dystrophy, Fuchs endothelial, 5 OMIM:613269 OMIM MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613269 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym FECD6 OMIM:613270 corneal dystrophy, fuchs endothelial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613270, MONDO:Lexical updated FECD6 OMIM:613270 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613270 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:610158 corneal dystrophy, fuchs endothelial, 2 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:610158 OMIM -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613267 corneal dystrophy, fuchs endothelial, 3 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613267 OMIM -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613268 corneal dystrophy, fuchs endothelial, 4 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268 OMIM -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613269 corneal dystrophy, fuchs endothelial, 5 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613269 OMIM -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613270 corneal dystrophy, fuchs endothelial, 6 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613270 OMIM MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym Fcd4 locus Fcd4 locus fcd4 locus OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 updated Fcd4 locus OMIM:613271 OMIM MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271, MONDO:Lexical updated corneal dystrophy, Fuchs endothelial, 7 OMIM:613271 OMIM MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 oio:hasExactSynonym oio:hasRelatedSynonym corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, late-onset OMIM:613271 corneal dystrophy, fuchs endothelial, 7 OMIM:613271 updated corneal dystrophy, Fuchs endothelial, late-onset OMIM:613271 OMIM @@ -86510,7 +83690,6 @@ MONDO:0013308 CBL-related disorder oio:hasExactSynonym oio:hasRelatedSynonym NSL MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 updated adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency OMIM:613571 OMIM MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to por deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 updated disordered steroidogenesis due to POR deficiency OMIM:613571 OMIM MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency OMIM:613571 updated disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency OMIM:613571 OMIM -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 MONDO:Lexical, OMIM:613573 updated ectodermal dysplasia-syndactyly syndrome 1 OMIM:613573 OMIM MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 MONDO:Lexical, OMIM:613576 updated ectodermal dysplasia-syndactyly syndrome 2 OMIM:613576 OMIM MONDO:0013316 occult macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Omd Omd omd OMIM:613587 occult macular dystrophy OMIM:613587 updated Omd OMIM:613587 OMIM MONDO:0013318 early repolarization associated with ventricular fibrillation oio:hasExactSynonym oio:hasRelatedSynonym early repolarization syndrome OMIM:613601 early repolarization associated with ventricular fibrillation OMIM:613601 updated early repolarization syndrome OMIM:613601 OMIM @@ -86531,7 +83710,6 @@ MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0013327 primary hyperoxaluria type 3 oio:hasExactSynonym oio:hasRelatedSynonym HP3 OMIM:613616 hyperoxaluria, primary, type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613616, MONDO:Lexical updated HP3 OMIM:613616 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 DUPLICATION syndrome chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome OMIM:613618 updated chromosome 17q23.1-q23.2 DUPLICATION syndrome OMIM:613618 OMIM MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 oio:hasExactSynonym oio:hasRelatedSynonym F5F8D2 OMIM:613625 factor 5 and factor viii, combined deficiency of, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613625, MONDO:Lexical updated F5F8D2 OMIM:613625 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:603438 tsukahara syndrome OMIM:613627 updated Tsukahara syndrome OMIM:603438 OMIM MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym Tsukahara syndrome Tsukahara syndrome tsukahara syndrome OMIM:613627 tsukahara syndrome OMIM:613627 updated Tsukahara syndrome OMIM:613627 OMIM MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym Tst1 Tst1 tst1 OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 updated Tst1 OMIM:613636 OMIM MONDO:0013335 tuberculin skin test reactivity, absence of oio:hasExactSynonym oio:hasRelatedSynonym tst reactivity, absence of OMIM:613636 tuberculin skin test reactivity, absence of OMIM:613636 updated tst reactivity, absence of OMIM:613636 OMIM @@ -86672,11 +83850,8 @@ MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P oio:has MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9 deficiency C9 deficiency c9 deficiency OMIM:613825 complement component 9 deficiency OMIM:613825 updated C9 deficiency OMIM:613825 OMIM MONDO:0013445 complement component 9 deficiency oio:hasExactSynonym oio:hasRelatedSynonym C9D OMIM:613825 complement component 9 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613825, MONDO:Lexical updated C9D OMIM:613825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 oio:hasExactSynonym oio:hasRelatedSynonym Gefs+, type 8 Gefs+, type 8 gefs+, type 8 OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 OMIM:613828 updated Gefs+, type 8 OMIM:613828 OMIM -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:613830 updated Csnb, complete, autosomal recessive OMIM:257270 OMIM -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:613830 updated Csnb, complete, autosomal recessive OMIM:613216 OMIM MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:613830 updated Csnb, complete, autosomal recessive OMIM:613830 OMIM MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1D night blindness, congenital stationary, type 1d OMIM:613830 night blindness, congenital stationary, type 1d MONDO:Lexical, OMIM:613830 updated night blindness, congenital stationary, type 1D OMIM:613830 OMIM -MONDO:0013450 congenital stationary night blindness 1D oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:613830 updated Csnb, complete, autosomal recessive OMIM:614565 OMIM MONDO:0013452 multisystemic smooth muscle dysfunction syndrome oio:hasExactSynonym oio:hasRelatedSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 smooth muscle dysfunction syndrome OMIM:613834 updated mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834 OMIM MONDO:0013455 hypertrophic cardiomyopathy 16 oio:hasExactSynonym oio:hasRelatedSynonym cardiomyopathy, familial hypertrophic, 16 OMIM:613838 cardiomyopathy, familial hypertrophic, 16 MONDO:Lexical, OMIM:613838 updated cardiomyopathy, familial hypertrophic, 16 OMIM:613838 OMIM MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease oio:hasExactSynonym oio:hasRelatedSynonym megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 updated megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839 OMIM @@ -86736,14 +83911,11 @@ MONDO:0013497 Okt4 epitope deficiency oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia 15 with or without an affective disorder OMIM:613950 schizophrenia 15 OMIM:613950 updated schizophrenia 15 with or without an affective disorder OMIM:613950 OMIM MONDO:0013498 schizophrenia 15 oio:hasExactSynonym oio:hasRelatedSynonym schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia susceptibility locus, chromosome 22q13-related OMIM:613950 schizophrenia 15 OMIM:613950 updated schizophrenia susceptibility locus, chromosome 22Q13-related OMIM:613950 OMIM MONDO:0013499 Fanconi anemia complementation group P oio:hasExactSynonym oio:hasRelatedSynonym Fanconi anemia, complementation group P Fanconi anemia, complementation group P fanconi anemia, complementation group p OMIM:613951 fanconi anemia, complementation group p MONDO:Lexical, OMIM:613951 updated Fanconi anemia, complementation group P OMIM:613951 OMIM -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 OMIM MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 5, formerly OMIM:613953 immunodeficiency 51 OMIM:613953 updated candidiasis, familial, 5, formerly OMIM:613953 OMIM MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym IMD51 OMIM:613953 immunodeficiency 51 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613953 updated IMD51 OMIM:613953 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013500 immunodeficiency 51 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:613953 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 OMIM MONDO:0013502 amyloidosis, primary localized cutaneous, 2 oio:hasExactSynonym oio:hasRelatedSynonym PLCA2 OMIM:613955 amyloidosis, primary localized cutaneous, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613955, MONDO:Lexical updated PLCA2 OMIM:613955 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:613956 updated candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 OMIM MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym CANDF6 OMIM:613956 candidiasis, familial, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613956, MONDO:Lexical updated CANDF6 OMIM:613956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013503 candidiasis, familial, 6 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:613956 updated candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 OMIM MONDO:0013504 spermatogenic failure 8 oio:hasExactSynonym oio:hasRelatedSynonym SPGF8 OMIM:613957 spermatogenic failure 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:613957 updated SPGF8 OMIM:613957 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, complete OMIM:613958 spermatogenic failure 9 OMIM:613958 updated globozoospermia, complete OMIM:613958 OMIM MONDO:0013505 spermatogenic failure 9 oio:hasExactSynonym oio:hasRelatedSynonym globozoospermia, total OMIM:613958 spermatogenic failure 9 OMIM:613958 updated globozoospermia, total OMIM:613958 OMIM @@ -86774,7 +83946,6 @@ MONDO:0013528 intellectual disability, autosomal recessive 14 oio:hasExactSynony MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021, MONDO:Lexical updated ventricular tachycardia, catecholaminergic polymorphic, 3 OMIM:614021 OMIM MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 oio:hasExactSynonym oio:hasRelatedSynonym CPVT3 OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614021, MONDO:Lexical updated CPVT3 OMIM:614021 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013530 atrial fibrillation, familial, 10 oio:hasExactSynonym oio:hasRelatedSynonym ATFB10 OMIM:614022 atrial fibrillation, familial, 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614022, MONDO:Lexical updated ATFB10 OMIM:614022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency OMIM:614025 updated HL deficiency OMIM:246450 OMIM MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HL deficiency HL deficiency hl deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 updated HL deficiency OMIM:614025 OMIM MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hepatic lipase deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 updated hepatic lipase deficiency OMIM:614025 OMIM MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym lipc deficiency OMIM:614025 hepatic lipase deficiency OMIM:614025 updated lipc deficiency OMIM:614025 OMIM @@ -86814,7 +83985,6 @@ MONDO:0013557 Hermansky-Pudlak syndrome 5 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013558 Hermansky-Pudlak syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym HPS6 OMIM:614075 hermansky-pudlak syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614075, MONDO:Lexical updated HPS6 OMIM:614075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM:614080 updated glycosylphosphatidylinositol biosynthesis defect 3 OMIM:614080 OMIM MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MCAHS1 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614080, MONDO:Lexical updated MCAHS1 OMIM:614080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 updated multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 OMIM MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym Ahaptoglobinemia Ahaptoglobinemia ahaptoglobinemia OMIM:614081 anhaptoglobinemia OMIM:614081 updated Ahaptoglobinemia OMIM:614081 OMIM MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym ANHAPTOGLOBINEMIA ANHAPTOGLOBINEMIA anhaptoglobinemia OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081 updated ANHAPTOGLOBINEMIA OMIM:614081 OMIM MONDO:0013564 anhaptoglobinemia oio:hasExactSynonym oio:hasRelatedSynonym AHP OMIM:614081 anhaptoglobinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614081, MONDO:Lexical updated AHP OMIM:614081 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -86862,7 +84032,6 @@ MONDO:0013595 hyperbiliverdinemia oio:hasExactSynonym oio:hasRelatedSynonym HBLV MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, platelet-type, 14 OMIM:614158 bleeding disorder, platelet-type, 14 MONDO:Lexical, OMIM:614158 updated bleeding disorder, platelet-type, 14 OMIM:614158 OMIM MONDO:0013597 platelet-type bleeding disorder 14 oio:hasExactSynonym oio:hasRelatedSynonym thromboxane synthetase deficiency OMIM:614158 bleeding disorder, platelet-type, 14 OMIM:614158 updated thromboxane synthetase deficiency OMIM:614158 OMIM MONDO:0013598 myostatin-related muscle hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym muscle hypertrophy OMIM:614160 muscle hypertrophy OMIM:614160, MONDO:Lexical updated muscle hypertrophy OMIM:614160 OMIM -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 candidiasis, familial, 6 OMIM:614162 updated candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:613956 OMIM MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 immunodeficiency 31c OMIM:614162 updated candidiasis, familial chronic mucocutaneous, autosomal dominant OMIM:614162 OMIM MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial, 7 OMIM:614162 immunodeficiency 31c OMIM:614162 updated candidiasis, familial, 7 OMIM:614162 OMIM MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency 31C immunodeficiency 31C immunodeficiency 31c OMIM:614162 immunodeficiency 31c OMIM:614162, MONDO:Lexical updated immunodeficiency 31C OMIM:614162 OMIM @@ -86946,7 +84115,6 @@ MONDO:0013666 Stickler syndrome, type 5 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0013668 tetrasomy 18p oio:hasExactSynonym oio:hasRelatedSynonym Isochromosome 18P syndrome Isochromosome 18P syndrome isochromosome 18p syndrome OMIM:614290 tetrasomy 18p OMIM:614290 updated Isochromosome 18P syndrome OMIM:614290 OMIM MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 oio:hasExactSynonym oio:hasRelatedSynonym BROVCA4 OMIM:614291 breast-ovarian cancer, familial, susceptibility to, 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614291, MONDO:Lexical updated BROVCA4 OMIM:614291 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym MCVD OMIM:614292 myopia, high, with cataract and vitreoretinal degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614292, MONDO:Lexical updated MCVD OMIM:614292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:231090 hydatidiform mole, recurrent, 1 OMIM:614293 updated hydatidiform Mole, complete OMIM:231090 OMIM MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform MOLE, recurrent, 2 hydatidiform MOLE, recurrent, 2 hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 updated hydatidiform MOLE, recurrent, 2 OMIM:614293 OMIM MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform Mole, complete hydatidiform Mole, complete hydatidiform mole, complete OMIM:614293 hydatidiform mole, recurrent, 2 OMIM:614293 updated hydatidiform Mole, complete OMIM:614293 OMIM MONDO:0013671 hydatidiform mole, recurrent, 2 oio:hasExactSynonym oio:hasRelatedSynonym HYDM2 OMIM:614293 hydatidiform mole, recurrent, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614293 updated HYDM2 OMIM:614293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -86955,7 +84123,6 @@ MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym he MONDO:0013673 Wolfram-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym WFSL OMIM:614296 wolfram-like syndrome, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614296 updated WFSL OMIM:614296 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 updated multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM:614299 OMIM MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical updated MMDS2 OMIM:614299 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:genemap2, OMIM:614302 updated Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 OMIM MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EMERY-Dreifuss muscular dystrophy 7, autosomal dominant EMERY-Dreifuss muscular dystrophy 7, autosomal dominant emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 updated EMERY-Dreifuss muscular dystrophy 7, autosomal dominant OMIM:614302 OMIM MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym EDMD7 OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614302, MONDO:Lexical updated EDMD7 OMIM:614302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013678 EDICT syndrome oio:hasExactSynonym oio:hasRelatedSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 edict syndrome OMIM:614303 updated endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome OMIM:614303 OMIM @@ -87031,7 +84198,6 @@ MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 oio:hasExactSynony MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL2 OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614390, MONDO:Lexical updated RPRGL2 OMIM:614390 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 oio:hasExactSynonym oio:hasRelatedSynonym RPRGL3 OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614391, MONDO:Lexical updated RPRGL3 OMIM:614391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 congenital myopathy 10a, severe variant OMIM:614399, MONDO:Lexical updated myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 OMIM -MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 congenital myopathy 10b, mild variant OMIM:614399 updated myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM:620249 OMIM MONDO:0013732 glucocorticoid therapy, response to oio:hasExactSynonym oio:hasRelatedSynonym GCTR OMIM:614400 glucocorticoid therapy, response to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614400 updated GCTR OMIM:614400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013734 microphthalmia, syndromic 11 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS11 OMIM:614402 microphthalmia, syndromic 11 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614402 updated MCOPS11 OMIM:614402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zaki-Gleeson syndrome Zaki-Gleeson syndrome zaki-gleeson syndrome OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome OMIM:614407 updated Zaki-Gleeson syndrome OMIM:614407 OMIM @@ -87051,12 +84217,8 @@ MONDO:0013748 ventricular septal defect 2 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013749 ventricular septal defect 3 oio:hasExactSynonym oio:hasRelatedSynonym VSD3 OMIM:614432 ventricular septal defect 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614432, MONDO:Lexical updated VSD3 OMIM:614432 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013751 cutis laxa, autosomal dominant 2 oio:hasExactSynonym oio:hasRelatedSynonym ADCL2 OMIM:614434 cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614434, MONDO:Lexical updated ADCL2 OMIM:614434 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013752 hypoplastic left heart syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym HLHS2 OMIM:614435 hypoplastic left heart syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614435, MONDO:Lexical updated HLHS2 OMIM:614435 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 updated Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive OMIM:607706 OMIM -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth disease, type 4A, axonal form charcot-marie-tooth disease, type 4a, axonal form OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive GARD:0009195 updated Charcot-Marie-Tooth disease, type 4A, axonal form OMIM:607706 OMIM MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2G, formerly Charcot-Marie-Tooth disease, axonal, type 2G, formerly charcot-marie-tooth disease, axonal, type 2g, formerly OMIM:614436 charcot-marie-tooth disease, axonal, type 2p OMIM:614436 updated Charcot-Marie-Tooth disease, axonal, type 2G, formerly OMIM:614436 OMIM MONDO:0013755 PYCR1-related de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type 3b OMIM:614438 cutis laxa, autosomal recessive, type 3b OMIM:614438 updated cutis laxa, autosomal recessive, type 3B OMIM:614438 OMIM -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 updated PDP, autosomal recessive OMIM:259100 OMIM -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:614441 updated pachydermoperiostosis, autosomal recessive OMIM:259100 OMIM MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 updated PDP, autosomal recessive OMIM:614441 OMIM MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:614441 updated pachydermoperiostosis, autosomal recessive OMIM:614441 OMIM MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease, dominant intermediate E charcot-marie-tooth disease, dominant intermediate e OMIM:614455 charcot-marie-tooth disease, dominant intermediate e OMIM:614455, MONDO:Lexical updated Charcot-Marie-Tooth disease, dominant intermediate E OMIM:614455 OMIM @@ -87078,7 +84240,6 @@ MONDO:0013768 arterial calcification, generalized, of infancy, 2 oio:hasExactSyn MONDO:0013769 atrioventricular septal defect 5 oio:hasExactSynonym oio:hasRelatedSynonym AVSD5 OMIM:614474 atrioventricular septal defect 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614474, MONDO:Lexical updated AVSD5 OMIM:614474 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym hypertriglyceridemia, transient infantile OMIM:614480 hypertriglyceridemia, transient infantile OMIM:614480, MONDO:Lexical updated hypertriglyceridemia, transient infantile OMIM:614480 OMIM MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis oio:hasExactSynonym oio:hasRelatedSynonym HTGTI OMIM:614480 hypertriglyceridemia, transient infantile http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614480 updated HTGTI OMIM:614480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:190440 trigonocephaly 1 OMIM:614485 updated craniosynostosis, metopic OMIM:190440 OMIM MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, metopic OMIM:614485 trigonocephaly 2 OMIM:614485 updated craniosynostosis, metopic OMIM:614485 OMIM MONDO:0013774 trigonocephaly 2 oio:hasExactSynonym oio:hasRelatedSynonym TRIGNO2 OMIM:614485 trigonocephaly 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614485 updated TRIGNO2 OMIM:614485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013775 thrombomodulin-related bleeding disorder oio:hasExactSynonym oio:hasRelatedSynonym thrombophilia due to thrombomodulin defect OMIM:614486 thrombophilia due to thrombomodulin defect MONDO:Lexical, OMIM:614486 updated thrombophilia due to thrombomodulin defect OMIM:614486 OMIM @@ -87110,9 +84271,6 @@ MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSyno MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564, MONDO:Lexical updated cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 OMIM MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial OMIM:614564 updated telangiectasia, cutaneous, and cancer syndrome, familial OMIM:614564 OMIM MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym FCTCS OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614564 updated FCTCS OMIM:614564 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:257270 night blindness, congenital stationary, type 1b OMIM:614565 updated Csnb, complete, autosomal recessive OMIM:257270 OMIM -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613216 night blindness, congenital stationary, type 1c OMIM:614565 updated Csnb, complete, autosomal recessive OMIM:613216 OMIM -MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:613830 night blindness, congenital stationary, type 1d OMIM:614565 updated Csnb, complete, autosomal recessive OMIM:613830 OMIM MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym Csnb, complete, autosomal recessive Csnb, complete, autosomal recessive csnb, complete, autosomal recessive OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565 updated Csnb, complete, autosomal recessive OMIM:614565 OMIM MONDO:0013807 congenital stationary night blindness 1E oio:hasExactSynonym oio:hasRelatedSynonym night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1E night blindness, congenital stationary, type 1e OMIM:614565 night blindness, congenital stationary, type 1e OMIM:614565, MONDO:Lexical updated night blindness, congenital stationary, type 1E OMIM:614565 OMIM MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type multiple enchondromatosis, maffucci type OMIM:614569 multiple enchondromatosis, maffucci type OMIM:614569 updated multiple enchondromatosis, Maffucci type OMIM:614569 OMIM @@ -87125,7 +84283,6 @@ MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelated MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym endemic Nonfilarial elephantiasis, susceptibility to endemic Nonfilarial elephantiasis, susceptibility to endemic nonfilarial elephantiasis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 updated endemic Nonfilarial elephantiasis, susceptibility to OMIM:614590 OMIM MONDO:0013814 podoconiosis, susceptibility to oio:hasExactSynonym oio:hasRelatedSynonym lymphostatic verrucosis, susceptibility to OMIM:614590 podoconiosis, susceptibility to OMIM:614590 updated lymphostatic verrucosis, susceptibility to OMIM:614590 OMIM MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BBDS BBDS bbds OMIM:614592 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614592, MONDO:Lexical updated BBDS OMIM:614592 OMIM -MONDO:0013815 bent bone dysplasia syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym bent bone dysplasia syndrome bent bone dysplasia syndrome Bent bone dysplasia syndrome OMIMPS:614592 Bent bone dysplasia syndrome OMIM:614592, MONDO:Lexical updated bent bone dysplasia syndrome OMIMPS:614592 OMIM MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PREECLAMPSIA/eclampsia 5 PREECLAMPSIA/eclampsia 5 preeclampsia/eclampsia 5 OMIM:614595 preeclampsia/eclampsia 5 OMIM:614595 updated PREECLAMPSIA/eclampsia 5 OMIM:614595 OMIM MONDO:0013817 preeclampsia/eclampsia 5 oio:hasExactSynonym oio:hasRelatedSynonym PEE5 OMIM:614595 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614595 updated PEE5 OMIM:614595 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013818 trichohepatoenteric syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym TRICHOHEPATOENTERIC syndrome 2 TRICHOHEPATOENTERIC syndrome 2 trichohepatoenteric syndrome 2 OMIM:614602 trichohepatoenteric syndrome 2 OMIM:614602 updated TRICHOHEPATOENTERIC syndrome 2 OMIM:614602 OMIM @@ -87192,7 +84349,6 @@ MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei MONDO:0013876 basal cell carcinoma, susceptibility to, 7 oio:hasExactSynonym oio:hasRelatedSynonym BCC7 OMIM:614740 basal cell carcinoma, susceptibility to, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614740, MONDO:Lexical updated BCC7 OMIM:614740 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013877 mitochondrial pyruvate carrier deficiency oio:hasExactSynonym oio:hasRelatedSynonym MPYCD OMIM:614741 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614741, MONDO:Lexical updated MPYCD OMIM:614741 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT1 OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614742, MONDO:Lexical updated PFBMFT1 OMIM:614742 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasBroadSynonym aplastic anemia OMIM:609135 aplastic anemia OMIM:genemap2, OMIM:614743 updated aplastic anemia OMIM:609135 OMIM MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 oio:hasExactSynonym oio:hasRelatedSynonym PFBMFT2 OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614743, MONDO:Lexical updated PFBMFT2 OMIM:614743 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013880 facial paresis, hereditary congenital, 3 oio:hasExactSynonym oio:hasRelatedSynonym HCFP3 OMIM:614744 facial paresis, hereditary congenital, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614744 updated HCFP3 OMIM:614744 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome OMIM:614748, MONDO:Lexical updated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM:614748 OMIM @@ -87219,12 +84375,9 @@ MONDO:0013899 Weill-Marchesani syndrome 3 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0013900 alternating hemiplegia of childhood 2 oio:hasExactSynonym oio:hasRelatedSynonym AHC2 OMIM:614820 alternating hemiplegia of childhood 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614820, MONDO:Lexical updated AHC2 OMIM:614820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym spermatogenic failure with defective sperm annulus OMIM:614822 spermatogenic failure 10 OMIM:614822 updated spermatogenic failure with defective sperm annulus OMIM:614822 OMIM MONDO:0013901 spermatogenic failure 10 oio:hasExactSynonym oio:hasRelatedSynonym SPGF10 OMIM:614822 spermatogenic failure 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614822, MONDO:Lexical updated SPGF10 OMIM:614822 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:614823 updated bicuspid aortic valve OMIM:109730 OMIM MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:614823 aortic valve disease 2 OMIM:614823 updated aortic valve stenosis OMIM:614823 OMIM MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:614823 updated bicuspid aortic valve OMIM:614823 OMIM MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym AOVD2 OMIM:614823 aortic valve disease 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614823, MONDO:Lexical updated AOVD2 OMIM:614823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve stenosis OMIM:618496 aortic valve disease 3 OMIM:614823 updated aortic valve stenosis OMIM:618496 OMIM -MONDO:0013902 aortic valve disease 2 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:614823 updated bicuspid aortic valve OMIM:618496 OMIM MONDO:0013903 nystagmus 7, congenital, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym NYSTAGMUS 7, congenital, autosomal dominant NYSTAGMUS 7, congenital, autosomal dominant nystagmus 7, congenital, autosomal dominant OMIM:614826 nystagmus 7, congenital, autosomal dominant MONDO:Lexical, OMIM:614826 updated NYSTAGMUS 7, congenital, autosomal dominant OMIM:614826 OMIM MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 updated Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related OMIM:614830 OMIM MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830 updated muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 OMIM:614830 OMIM @@ -87331,11 +84484,8 @@ MONDO:0013977 combined oxidative phosphorylation defect type 13 oio:hasExactSyno MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 oio:hasExactSynonym oio:hasNarrowSynonym DFNB70 OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:614934, DOID:0110521 updated DFNB70 OMIM:614934 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19 OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935, MONDO:Lexical updated ciliary dyskinesia, primary, 19 OMIM:614935 OMIM MONDO:0013979 primary ciliary dyskinesia 19 oio:hasExactSynonym oio:hasRelatedSynonym ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 ciliary dyskinesia, primary, 19 OMIM:614935 updated ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935 OMIM -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant OMIM:614940 updated ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:129490 OMIM MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant OMIM:614940 updated ectodermal dysplasia, hypohidrotic, autosomal dominant OMIM:614940 OMIM MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym ECTD11A OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614940, MONDO:Lexical updated ECTD11A OMIM:614940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 updated ectodermal dysplasia, anhidrotic OMIM:224900 OMIM -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 updated ectodermal dysplasia, hypohidrotic OMIM:224900 OMIM MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, anhidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 updated ectodermal dysplasia, anhidrotic OMIM:614941 OMIM MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ectodermal dysplasia, hypohidrotic OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM:614941 updated ectodermal dysplasia, hypohidrotic OMIM:614941 OMIM MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym ECTD11B OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614941, MONDO:Lexical updated ECTD11B OMIM:614941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -87602,7 +84752,6 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2, formerly OMIM:615486 interstitial lung and liver disease OMIM:615486 updated infantile liver failure syndrome 2, formerly OMIM:615486 OMIM MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, Reunion Island pulmonary alveolar proteinosis, reunion island OMIM:615486 interstitial lung and liver disease OMIM:615486 updated pulmonary alveolar proteinosis, Reunion Island OMIM:615486 OMIM MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym ILLD OMIM:615486 interstitial lung and liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615486, MONDO:Lexical updated ILLD OMIM:615486 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oio:hasExactSynonym oio:hasRelatedSynonym infantile liver failure syndrome 2 OMIM:616483 infantile liver failure syndrome 2 OMIM:615486 updated infantile liver failure syndrome 2 OMIM:616483 OMIM MONDO:0014207 age related macular degeneration 14 oio:hasExactSynonym oio:hasRelatedSynonym macular degeneration, age-related, 14 OMIM:615489 macular degeneration, age-related, 14 OMIM:615489, MONDO:Lexical updated macular degeneration, age-related, 14 OMIM:615489 OMIM MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R charcot-marie-tooth disease, axonal, autosomal recessive, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r GARD:0012451, OMIM:615490 updated Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R OMIM:615490 OMIM MONDO:0014208 Charcot-Marie-Tooth disease type 2R oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2R Charcot-Marie-Tooth disease, axonal, type 2R charcot-marie-tooth disease, axonal, type 2r OMIM:615490 charcot-marie-tooth disease, axonal, type 2r MONDO:Lexical, OMIM:615490 updated Charcot-Marie-Tooth disease, axonal, type 2R OMIM:615490 OMIM @@ -87645,7 +84794,6 @@ MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:ha MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 oio:hasExactSynonym oio:hasRelatedSynonym FECD8 OMIM:615523 corneal dystrophy, fuchs endothelial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615523 updated FECD8 OMIM:615523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects OMIM:615524 microphthalmia, syndromic 12 OMIM:615524 updated microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects OMIM:615524 OMIM MONDO:0014229 microphthalmia, syndromic 12 oio:hasExactSynonym oio:hasRelatedSynonym MCOPS12 OMIM:615524 microphthalmia, syndromic 12 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615524, MONDO:Lexical updated MCOPS12 OMIM:615524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 immunodeficiency 103, susceptibility to fungal infections OMIM:615527 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:212050 OMIM MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 candidiasis, familial, 8 OMIM:615527 updated candidiasis, familial chronic mucocutaneous, autosomal recessive OMIM:615527 OMIM MONDO:0014230 candidiasis, familial, 8 oio:hasExactSynonym oio:hasRelatedSynonym CANDF8 OMIM:615527 candidiasis, familial, 8 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615527 updated CANDF8 OMIM:615527 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014231 juvenile onset Parkinson disease 19A oio:hasExactSynonym oio:hasRelatedSynonym Park19, formerly Park19, formerly park19, formerly OMIM:615528 parkinson disease 19a, juvenile-onset OMIM:615528 updated Park19, formerly OMIM:615528 OMIM @@ -87688,7 +84836,6 @@ MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRela MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, normotriglyceridemic OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 updated hypobetalipoproteinemia, Normotriglyceridemic OMIM:615558 OMIM MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558 updated hypobetalipoproteinemia, familial OMIM:615558 OMIM MONDO:0014252 familial hypobetalipoproteinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hypobetalipoproteinemia, familial, 1 OMIM:615558 hypobetalipoproteinemia, familial, 1 OMIM:615558, MONDO:Lexical updated hypobetalipoproteinemia, familial, 1 OMIM:615558 OMIM -MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OMIM:602966 orofacial cleft 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical updated OFC2 OMIM:602966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OFC2 OFC2 ofc2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560, MONDO:Lexical updated OFC2 OMIM:615560 OMIM MONDO:0014254 otofaciocervical syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym OTFCS2 OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615560 updated OTFCS2 OMIM:615560 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014255 complement factor b deficiency oio:hasExactSynonym oio:hasRelatedSynonym complement factor B deficiency OMIM:615561 complement factor B deficiency OMIM:615561 updated complement factor B deficiency OMIM:615561 OMIM @@ -87870,7 +85017,6 @@ MONDO:0014411 myopia 24, autosomal dominant oio:hasExactSynonym oio:hasRelatedSy MONDO:0014413 orofaciodigital syndrome type 14 oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 14 OMIM:615948 orofaciodigital syndrome 14 OMIM:615948 updated orofaciodigital syndrome 14 OMIM:615948 OMIM MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 updated autoimmune disease, multisystem, infantile-onset, 1 OMIM:615952 OMIM MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym ADMIO1 OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615952 updated ADMIO1 OMIM:615952 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease oio:hasExactSynonym oio:hasRelatedSynonym autoimmune disease, multisystem, infantile-onset autoimmune disease, multisystem, infantile-onset Autoimmune disease, multisystem, infantile-onset OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset MONDO:Lexical, OMIM:615952 updated autoimmune disease, multisystem, infantile-onset OMIMPS:615952 OMIM MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym primary macronodular adrenal hyperplasia OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 OMIM:615954 updated primary macronodular adrenal hyperplasia OMIM:615954 OMIM MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym AIMAH2 OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615954 updated AIMAH2 OMIM:615954 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014417 spinocerebellar ataxia type 38 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 38 OMIM:615957 spinocerebellar ataxia 38 MONDO:Lexical, OMIM:615957 updated spinocerebellar ataxia 38 OMIM:615957 OMIM @@ -87896,8 +85042,6 @@ MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSyno MONDO:0014430 intellectual disability, autosomal recessive 45 oio:hasExactSynonym oio:hasRelatedSynonym MRT45 OMIM:615979 intellectual developmental disorder, autosomal recessive 45 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical, OMIM:615979 updated MRT45 OMIM:615979 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, associated with lipe mutations OMIM:615980 lipodystrophy, familial partial, type 6 OMIM:615980 updated lipodystrophy, familial partial, associated with Lipe mutations OMIM:615980 OMIM MONDO:0014431 LIPE-related familial partial lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipodystrophy, familial partial, type 6 OMIM:615980 lipodystrophy, familial partial, type 6 MONDO:Lexical, GARD:0013126, OMIM:615980 updated lipodystrophy, familial partial, type 6 OMIM:615980 OMIM -MONDO:0014432 Bardet-Biedl syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Bardet-Biedl syndrome OMIMPS:209900 Bardet-Biedl syndrome GARD:0000821 updated Bardet-Biedl syndrome OMIMPS:209900 OMIM -MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH OMIM:305600 focal dermal hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 updated FDH OMIM:305600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym euthyroid hyperthyroxinemia 1 OMIM:615999 hyperthyroxinemia, familial dysalbuminemic OMIM:615999 updated euthyroid hyperthyroxinemia 1 OMIM:615999 OMIM MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDH FDH fdh OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615999 updated FDH OMIM:615999 OMIM MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym oio:hasRelatedSynonym FDAH OMIM:615999 hyperthyroxinemia, familial dysalbuminemic http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615999 updated FDAH OMIM:615999 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -87992,7 +85136,6 @@ MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2S Charcot-Marie-Tooth neuropathy, type 2S charcot-marie-tooth neuropathy, type 2s OMIM:616155 charcot-marie-tooth disease, axonal, type 2s OMIM:616155 updated Charcot-Marie-Tooth neuropathy, type 2S OMIM:616155 OMIM MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 aortic aneurysm, familial thoracic 9 OMIM:616166 updated aortic aneurysm, thoracic, with or without aortic dissection OMIM:616166 OMIM MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym AAT9 OMIM:616166 aortic aneurysm, familial thoracic 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616166, MONDO:Lexical updated AAT9 OMIM:616166 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014514 aortic aneurysm, familial thoracic 9 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 aortic aneurysm, familial thoracic 10 OMIM:616166 updated aortic aneurysm, thoracic, with or without aortic dissection OMIM:617168 OMIM MONDO:0014515 macular dystrophy with central cone involvement oio:hasExactSynonym oio:hasRelatedSynonym CCMD OMIM:616170 macular dystrophy with central cone involvement http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616170 updated CCMD OMIM:616170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 MONDO:Lexical, OMIM:616171 updated microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM:616171 OMIM MONDO:0014516 microcephaly and chorioretinopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym MCCRP2 OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616171 updated MCCRP2 OMIM:616171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88130,7 +85273,6 @@ MONDO:0014626 spinocerebellar ataxia type 41 oio:hasExactSynonym oio:hasRelatedS MONDO:0014627 dystonia 27 oio:hasExactSynonym oio:hasRelatedSynonym DYT27 OMIM:616411 dystonia 27 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616411 updated DYT27 OMIM:616411 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014628 basal ganglia calcification, idiopathic, 6 oio:hasExactSynonym oio:hasRelatedSynonym IBGC6 OMIM:616413 basal ganglia calcification, idiopathic, 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616413 updated IBGC6 OMIM:616413 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome oio:hasExactSynonym oio:hasRelatedSynonym autoimmune interstitial lung, joint, and kidney disease OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation MONDO:Lexical, OMIM:616414 updated autoimmune interstitial lung, joint, and kidney disease OMIM:616414 OMIM -MONDO:0014631 hypomagnesemia, seizures, and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR HOMGSMR homgsmr OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616418, MONDO:Lexical updated HOMGSMR OMIM:616418 OMIM MONDO:0014632 hypomyelinating leukodystrophy 10 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 10 OMIM:616420 leukodystrophy, hypomyelinating, 10 MONDO:Lexical, OMIM:616420 updated leukodystrophy, hypomyelinating, 10 OMIM:616420 OMIM MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym 46,XY SEX reversal 10 46,XY SEX reversal 10 46,xy sex reversal 10 OMIM:616425 46,xy sex reversal 10 OMIM:616425 updated 46,XY SEX reversal 10 OMIM:616425 OMIM MONDO:0014634 46,XY sex reversal 10 oio:hasExactSynonym oio:hasRelatedSynonym chromosome 17Q24 deletion syndrome chromosome 17Q24 deletion syndrome chromosome 17q24 deletion syndrome OMIM:616425 46,xy sex reversal 10 OMIM:616425 updated chromosome 17Q24 deletion syndrome OMIM:616425 OMIM @@ -88169,7 +85311,6 @@ MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2V Charcot-Marie-Tooth disease, axonal, type 2V charcot-marie-tooth disease, axonal, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491, MONDO:Lexical updated Charcot-Marie-Tooth disease, axonal, type 2V OMIM:616491 OMIM MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2V Charcot-Marie-Tooth neuropathy, type 2V charcot-marie-tooth neuropathy, type 2v OMIM:616491 charcot-marie-tooth disease, axonal, type 2v OMIM:616491 updated Charcot-Marie-Tooth neuropathy, type 2V OMIM:616491 OMIM MONDO:0014666 hypomyelinating leukodystrophy 11 oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy, hypomyelinating, 11 OMIM:616494 leukodystrophy, hypomyelinating, 11 OMIM:616494, MONDO:Lexical updated leukodystrophy, hypomyelinating, 11 OMIM:616494 OMIM -MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:614500 cone-rod dystrophy 16 OMIM:616502 updated retinal dystrophy with early macular involvement OMIM:614500 OMIM MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym retinal dystrophy with early macular involvement OMIM:616502 cone-rod dystrophy 21 OMIM:616502 updated retinal dystrophy with early macular involvement OMIM:616502 OMIM MONDO:0014669 cone-rod dystrophy 21 oio:hasExactSynonym oio:hasRelatedSynonym CORD21 OMIM:616502 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616502, MONDO:Lexical updated CORD21 OMIM:616502 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014670 lethal congenital contracture syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym LCCS9 OMIM:616503 lethal congenital contracture syndrome 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616503 updated LCCS9 OMIM:616503 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88258,7 +85399,6 @@ MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome oi MONDO:0014765 wooly hair, autosomal recessive 3 oio:hasExactSynonym oio:hasRelatedSynonym woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 woolly hair, autosomal recessive 3 http://purl.obolibrary.org/obo/OMO_0003005 updated woolly hair, autosomal recessive 3, with hypotrichosis OMIM:616760 OMIM MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 updated leukodystrophy and acquired microcephaly with or without dystonia OMIM:616763 OMIM MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; oio:hasExactSynonym oio:hasRelatedSynonym LDAMD OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616763 updated LDAMD OMIM:616763 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014769 inherited oocyte maturation defect oio:hasExactSynonym oio:hasRelatedSynonym OOMD OOMD oomd OMIM:615774 oocyte/zygote/embryo maturation arrest 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616780 updated OOMD OMIM:615774 OMIM MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome oio:hasExactSynonym oio:hasRelatedSynonym mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive FACIAL features with or without CARDIAC defects mental retardation and distinctive facial features with or without cardiac defects OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:616789 updated mental retardation and distinctive FACIAL features with or without CARDIAC defects OMIM:616789 OMIM MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 oio:hasExactSynonym oio:hasRelatedSynonym glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 hyperphosphatasia with impaired intellectual development syndrome 6 OMIM:616809 updated glycosylphosphatidylinositol biosynthesis defect 12 OMIM:616809 OMIM MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Birk-Flusser syndrome Birk-Flusser syndrome birk-flusser syndrome OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM:616819 updated Birk-Flusser syndrome OMIM:616819 OMIM @@ -88286,7 +85426,6 @@ MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfan-progeroid-lipodystrophy syndrome Marfan-progeroid-lipodystrophy syndrome marfan-progeroid-lipodystrophy syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 updated Marfan-progeroid-lipodystrophy syndrome OMIM:616914 OMIM MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marfanoid-progeroid syndrome Marfanoid-progeroid syndrome marfanoid-progeroid syndrome OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome OMIM:616914 updated Marfanoid-progeroid syndrome OMIM:616914 OMIM MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym MFLS OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616914 updated MFLS OMIM:616914 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014835 striatal degeneration, autosomal dominant 2 oio:hasExactSynonym oio:hasBroadSynonym striatal degeneration, autosomal dominant striatal degeneration, autosomal dominant Striatal degeneration, autosomal dominant OMIMPS:609161 Striatal degeneration, autosomal dominant OMIM:genemap2, OMIM:616922 updated striatal degeneration, autosomal dominant OMIMPS:609161 OMIM MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease, axonal, type 2CC Charcot-Marie-Tooth disease, axonal, type 2CC charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 updated Charcot-Marie-Tooth disease, axonal, type 2CC OMIM:616924 OMIM MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth neuropathy, type 2Cc Charcot-Marie-Tooth neuropathy, type 2Cc charcot-marie-tooth neuropathy, type 2cc OMIM:616924 charcot-marie-tooth disease, axonal, type 2cc OMIM:616924 updated Charcot-Marie-Tooth neuropathy, type 2Cc OMIM:616924 OMIM MONDO:0014837 thrombocytopenia 6 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, autosomal dominant, 6 OMIM:616937 thrombocytopenia 6 OMIM:616937 updated thrombocytopenia, autosomal dominant, 6 OMIM:616937 OMIM @@ -88326,7 +85465,6 @@ MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym inte MONDO:0014914 Dias-Logan syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin OMIM:617101 updated intellectual developmental disorder with persistence of fetal Hemoglobin OMIM:617101 OMIM MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome thauvin-robinet-faivre syndrome OMIM:617107 thauvin-robinet-faivre syndrome OMIM:617107 updated THAUVIN-robinet-Faivre syndrome OMIM:617107 OMIM MONDO:0014922 myofibrillar myopathy 7 oio:hasExactSynonym oio:hasRelatedSynonym MFM7 OMIM:617114 myopathy, myofibrillar, 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617114 updated MFM7 OMIM:617114 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0014926 Bardet-Biedl syndrome 22 oio:hasExactSynonym oio:hasRelatedSynonym BBS20 OMIM:619471 bardet-biedl syndrome 20 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617119 updated BBS20 OMIM:619471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym Ofds 15 Ofds 15 ofds 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 updated Ofds 15 OMIM:617127 OMIM MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome, type 15 oral-Facial-digital syndrome, type 15 oral-facial-digital syndrome, type 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 updated oral-Facial-digital syndrome, type 15 OMIM:617127 OMIM MONDO:0014932 orofaciodigital syndrome XV oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome 15 OMIM:617127 orofaciodigital syndrome 15 OMIM:617127 updated orofaciodigital syndrome 15 OMIM:617127 OMIM @@ -88365,10 +85503,6 @@ MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pseudocholinesterase deficiency OMIM:617936 butyrylcholinesterase deficiency OMIM:617936, GARD:0007482 updated pseudocholinesterase deficiency OMIM:617936 OMIM MONDO:0015270 butyrylcholinesterase deficiency oio:hasExactSynonym oio:hasRelatedSynonym BCHED OMIM:617936 butyrylcholinesterase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617936 updated BCHED OMIM:617936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0015278 familial pancreatic carcinoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic acinar carcinoma OMIM:260350 pancreatic cancer OMIM:260350 updated pancreatic acinar carcinoma OMIM:260350 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym Fav sequence Fav sequence fav sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 updated Fav sequence OMIM:164210 OMIM -MONDO:0015397 craniofacial microsomia oio:hasExactSynonym oio:hasRelatedSynonym facioauriculovertebral sequence OMIM:164210 craniofacial microsomia 1 OMIM:164210 updated facioauriculovertebral sequence OMIM:164210 OMIM -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 1 Dent disease 1 dent disease 1 OMIM:300009 dent disease 1 DOID:0050699 updated Dent disease 1 OMIM:300009 OMIM -MONDO:0015612 Dent disease oio:hasExactSynonym oio:hasNarrowSynonym Dent disease 2 Dent disease 2 dent disease 2 OMIM:300555 dent disease 2 DOID:0050699 updated Dent disease 2 OMIM:300555 OMIM MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Alport syndrome with macrothrombocytopenia, formerly Alport syndrome with macrothrombocytopenia, formerly alport syndrome with macrothrombocytopenia, formerly OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 updated Alport syndrome with macrothrombocytopenia, formerly OMIM:155100 OMIM MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym Dohle leukocyte inclusions with giant platelets Dohle leukocyte inclusions with giant platelets dohle leukocyte inclusions with giant platelets OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 updated Dohle leukocyte inclusions with giant platelets OMIM:155100 OMIM MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 6 bleeding disorder, Platelet-type, 6 bleeding disorder, platelet-type, 6 OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 updated bleeding disorder, Platelet-type, 6 OMIM:155100 OMIM @@ -88377,8 +85511,6 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, and deafness OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153650 updated macrothrombocytopenia, nephritis, and deafness OMIM:155100 OMIM MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 updated macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions OMIM:155100 OMIM MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym MATINS matins MATINS OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155100 updated MATINS OMIM:155100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym FMD FMD fmd OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620, MONDO:Lexical updated FMD OMIM:305620 OMIM -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency OMIM:215700 citrullinemia, classic DOID:9273 updated ass deficiency OMIM:215700 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 updated Ehlers-Danlos syndrome, kyphoscoliotic type, 1 OMIM:225400 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, ocular-scoliotic type ehlers-danlos syndrome, ocular-scoliotic type OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 OMIM:225400, MESH:C536198 updated Ehlers-Danlos syndrome, ocular-scoliotic type OMIM:225400 OMIM MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type VIA, formerly ehlers-danlos syndrome, type via, formerly OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 MESH:C536198 updated Ehlers-Danlos syndrome, type VIA, formerly OMIM:225400 OMIM @@ -88392,16 +85524,11 @@ MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym o MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym olivopontocerebellar atrophy 3 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500 updated olivopontocerebellar atrophy 3 OMIM:164500 OMIM MONDO:0016163 autosomal dominant cerebellar ataxia type II oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia 7 OMIM:164500 spinocerebellar ataxia 7 OMIM:164500, MONDO:Lexical updated spinocerebellar ataxia 7 OMIM:164500 OMIM MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hirschsprung disease with type D brachydactyly Hirschsprung disease with type D brachydactyly hirschsprung disease with type d brachydactyly OMIM:306980 hirschsprung disease with type d brachydactyly OMIM:306980 updated Hirschsprung disease with type D brachydactyly OMIM:306980 OMIM -MONDO:0016349 congenital hydrocephalus oio:hasExactSynonym oio:hasRelatedSynonym HYC3 OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION updated HYC3 OMIM:617967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Poikiloderma Atrophicans and Cataract Poikiloderma Atrophicans and Cataract poikiloderma atrophicans and cataract OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 updated Poikiloderma Atrophicans and Cataract OMIM:618625 OMIM MONDO:0016368 Rothmund-Thomson syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym ROTHMUND-THOMSON SYNDROME, TYPE 1 ROTHMUND-THOMSON SYNDROME, TYPE 1 rothmund-thomson syndrome, type 1 OMIM:618625 rothmund-thomson syndrome, type 1 OMIM:618625 updated ROTHMUND-THOMSON SYNDROME, TYPE 1 OMIM:618625 OMIM MONDO:0016419 hereditary breast carcinoma oio:hasExactSynonym oio:hasRelatedSynonym breast cancer, familial OMIM:114480 breast cancer OMIM:114480 updated breast cancer, familial OMIM:114480 OMIM MONDO:0016532 Lennox-Gastaut syndrome oio:hasExactSynonym oio:hasRelatedSynonym macrocephaly and epileptic encephalopathy OMIM:606369 macrocephaly and epileptic encephalopathy OMIM:606369 updated macrocephaly and epileptic encephalopathy OMIM:606369 OMIM MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym CTHM OMIM:217095 conotruncal heart malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:217095 updated CTHM OMIM:217095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100, MONDO:Lexical updated hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 OMIM -MONDO:0016620 primary hypertrophic osteoarthropathy oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100, MONDO:Lexical updated PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym frontonasal dysplasia 1 OMIM:136760 frontonasal dysplasia 1 NCIT:C129028 updated frontonasal dysplasia 1 OMIM:136760 OMIM -MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym oio:hasNarrowSynonym FND1 OMIM:136760 frontonasal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C129028 updated FND1 OMIM:136760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym epiphyseal dysplasia, multiple epiphyseal dysplasia, multiple Epiphyseal dysplasia, multiple OMIMPS:132400 Epiphyseal dysplasia, multiple OMIMPS:132400, GARD:0010756 updated epiphyseal dysplasia, multiple OMIMPS:132400 OMIM MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis, distal, type 10 OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370, MONDO:Lexical updated arthrogryposis, distal, type 10 OMIM:187370 OMIM MONDO:0016675 distal arthrogryposis type 10 oio:hasExactSynonym oio:hasRelatedSynonym congenital plantar contractures OMIM:187370 arthrogryposis, distal, type 10 OMIM:187370 updated congenital plantar contractures OMIM:187370 OMIM @@ -88413,17 +85540,10 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym cholestasis with peripheral pulmonary stenosis OMIM:118450 alagille syndrome 1 OMIM:118450 updated cholestasis with peripheral pulmonary stenosis OMIM:118450 OMIM MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym hepatic ductular hypoplasia, syndromatic OMIM:118450 alagille syndrome 1 OMIM:118450 updated hepatic ductular hypoplasia, syndromatic OMIM:118450 OMIM MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym ALGS1 OMIM:118450 alagille syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118450, MONDO:Lexical updated ALGS1 OMIM:118450 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome oio:hasExactSynonym oio:hasRelatedSynonym MMDS MMDS mmds OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical updated MMDS OMIM:605711 OMIM MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 mitchell-riley syndrome OMIM:615710 updated diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia OMIM:615710 OMIM MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTCHRS OMIM:615710 mitchell-riley syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615710, MONDO:Lexical updated MTCHRS OMIM:615710 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome oio:hasExactSynonym oio:hasRelatedSynonym Fryns-Aftimos syndrome Fryns-Aftimos syndrome fryns-aftimos syndrome OMIM:243310 baraitser-winter syndrome 1 GARD:0005279 updated Fryns-Aftimos syndrome OMIM:243310 OMIM MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa, junctional epidermolysis bullosa, junctional Epidermolysis bullosa, junctional OMIMPS:226650 Epidermolysis bullosa, junctional GARD:0002152 updated epidermolysis bullosa, junctional OMIMPS:226650 OMIM -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis et progressiva OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200, MONDO:Lexical updated erythrokeratodermia variabilis ET progressiva OMIM:133200 OMIM -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 updated erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 OMIM -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 GARD:0003096, MESH:C536154 updated erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 OMIM -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 updated erythrokeratodermia, progressive symmetric OMIM:133200 OMIM MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis ET progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200, MONDO:Lexical updated erythrokeratodermia variabilis ET progressiva OMIMPS:133200 OMIM -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym BEEC OMIM:600057 bladder exstrophy and epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:322 updated BEEC OMIM:600057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym Young female arteritis Young female arteritis young female arteritis OMIM:207600 takayasu arteritis OMIM:207600 updated Young female arteritis OMIM:207600 OMIM MONDO:0017991 Takayasu arteritis oio:hasExactSynonym oio:hasRelatedSynonym pulseless disease OMIM:207600 takayasu arteritis OMIM:207600 updated pulseless disease OMIM:207600 OMIM MONDO:0018054 familial atrial fibrillation oio:hasExactSynonym oio:hasRelatedSynonym atrial fibrillation, familial atrial fibrillation, familial Atrial fibrillation, familial OMIMPS:608583 Atrial fibrillation, familial GARD:0009740, OMIMPS:608583 updated atrial fibrillation, familial OMIMPS:608583 OMIM @@ -88454,13 +85574,7 @@ MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding di MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym sclerosing cholangitis, neonatal OMIM:617394 sclerosing cholangitis, neonatal OMIM:617394 updated sclerosing cholangitis, neonatal OMIM:617394 OMIM MONDO:0018816 isolated neonatal sclerosing cholangitis oio:hasExactSynonym oio:hasRelatedSynonym NSC OMIM:617394 sclerosing cholangitis, neonatal http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617394 updated NSC OMIM:617394 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym PTORCH2 OMIM:617397 pseudo-torch syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617397 updated PTORCH2 OMIM:617397 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia reticulata symmetrica faciei Atrophodermia reticulata symmetrica faciei atrophodermia reticulata symmetrica faciei OMIM:209700 atrophoderma vermiculata MESH:C537412 updated Atrophodermia reticulata symmetrica faciei OMIM:209700 OMIM -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym Atrophodermia vermiculata Atrophodermia vermiculata atrophodermia vermiculata OMIM:209700 atrophoderma vermiculata MESH:C537412 updated Atrophodermia vermiculata OMIM:209700 OMIM -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis ulerythematosa reticulata OMIM:209700 atrophoderma vermiculata MESH:C537412 updated folliculitis ulerythematosa reticulata OMIM:209700 OMIM -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym honeycomb atrophy OMIM:209700 atrophoderma vermiculata MESH:C537412 updated honeycomb atrophy OMIM:209700 OMIM MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym KPA OMIM:604093 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604093 updated KPA OMIM:604093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym pseudotoxoplasmosis syndrome OMIM:225750 aicardi-goutieres syndrome 1 GARD:0000575 updated pseudotoxoplasmosis syndrome OMIM:225750 OMIM -MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym AGS AGS ags OMIM:225750 aicardi-goutieres syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000575 updated AGS OMIM:225750 OMIM MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myelogenous OMIM:601626 leukemia, acute myeloid OMIM:601626 updated leukemia, acute myelogenous OMIM:601626 OMIM MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym oio:hasRelatedSynonym leukemia, acute myeloid OMIM:601626 leukemia, acute myeloid MONDO:Lexical, OMIM:601626 updated leukemia, acute myeloid OMIM:601626 OMIM MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym oio:hasRelatedSynonym sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and Fraumeni sarcoma family syndrome of 51 and fraumeni OMIM:151623 li-fraumeni syndrome OMIM:151623 updated sarcoma family syndrome of 51 and Fraumeni OMIM:151623 OMIM @@ -88472,7 +85586,6 @@ MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRela MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym McLeod phenotype McLeod phenotype mcleod phenotype OMIM:300842 mcleod syndrome OMIM:300842 updated McLeod phenotype OMIM:300842 OMIM MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis, McLeod type neuroacanthocytosis, McLeod type neuroacanthocytosis, mcleod type OMIM:300842 mcleod syndrome OMIM:300842 updated neuroacanthocytosis, McLeod type OMIM:300842 OMIM MONDO:0018945 McLeod neuroacanthocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym MCLDS OMIM:300842 mcleod syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300842, MONDO:Lexical updated MCLDS OMIM:300842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0018949 distal myopathy oio:hasExactSynonym oio:hasNarrowSynonym Miyoshi muscular dystrophy OMIMPS:254130 Miyoshi muscular dystrophy DOID:11720 updated Miyoshi muscular dystrophy OMIMPS:254130 OMIM MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym methylcrotonylglycinuria methylcrotonylglycinuria Methylcrotonylglycinuria OMIMPS:210200 Methylcrotonylglycinuria OMIMPS:210200 updated methylcrotonylglycinuria OMIMPS:210200 OMIM MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym MYOTONIA, POTASSIUM-AGGRAVATED MYOTONIA, POTASSIUM-AGGRAVATED myotonia, potassium-aggravated OMIM:608390 myotonia, potassium-aggravated OMIM:608390 updated MYOTONIA, POTASSIUM-AGGRAVATED OMIM:608390 OMIM MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Congenita, Acetazolamide-Responsive Myotonia Congenita, Acetazolamide-Responsive myotonia congenita, acetazolamide-responsive OMIM:608390 myotonia, potassium-aggravated OMIM:608390 updated Myotonia Congenita, Acetazolamide-Responsive OMIM:608390 OMIM @@ -88488,26 +85601,20 @@ MONDO:0019064 hereditary spastic paraplegia oio:hasExactSynonym oio:hasBroadSyno MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym glomerulonephritis with sparse hair and telangiectases OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 updated glomerulonephritis with sparse hair and telangiectases OMIM:137940 OMIM MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym telangiectatic membranoproliferative glomerulonephritis OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM:137940 updated telangiectatic membranoproliferative glomerulonephritis OMIM:137940 OMIM MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym HLTRS OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:137940 updated HLTRS OMIM:137940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0019078 Ritscher-Schinzel syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dandy-Walker-like malformation with atrioventricular septal defect Dandy-Walker-like malformation with atrioventricular septal defect dandy-walker-like malformation with atrioventricular septal defect OMIM:220210 ritscher-schinzel syndrome 1 MESH:C535313 updated Dandy-Walker-like malformation with atrioventricular septal defect OMIM:220210 OMIM MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RH-null, regulator type RH-null, regulator type rh-null, regulator type OMIM:268150 rh-null, regulator type OMIM:268150, MONDO:Lexical updated RH-null, regulator type OMIM:268150 OMIM MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null disease, regulator type Rh-null disease, regulator type rh-null disease, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 updated Rh-null disease, regulator type OMIM:268150 OMIM MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rh-null hemolytic Anemia, regulator type Rh-null hemolytic Anemia, regulator type rh-null hemolytic anemia, regulator type OMIM:268150 rh-null, regulator type OMIM:268150 updated Rh-null hemolytic Anemia, regulator type OMIM:268150 OMIM MONDO:0019107 Rh deficiency syndrome oio:hasExactSynonym oio:hasRelatedSynonym RHNR OMIM:268150 rh-null, regulator type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268150 updated RHNR OMIM:268150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019111 familial thrombocytosis oio:hasExactSynonym oio:hasRelatedSynonym thrombocythemia thrombocythemia Thrombocythemia OMIMPS:187950 Thrombocythemia OMIMPS:187950 updated thrombocythemia OMIMPS:187950 OMIM -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency OMIMPS:278000 Lysosomal acid lipase deficiency NCIT:C61271 updated lysosomal acid lipase deficiency OMIMPS:278000 OMIM MONDO:0019149 cholesteryl ester storage disease oio:hasExactSynonym oio:hasRelatedSynonym CESD OMIM:278000 cholesteryl ester storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0012099 updated CESD OMIM:278000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym AR deficiency AR deficiency ar deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 updated AR deficiency OMIM:300068 OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym DHTR deficiency DHTR deficiency dhtr deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 updated DHTR deficiency OMIM:300068 OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym androgen receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 updated androgen receptor deficiency OMIM:300068 OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasRelatedSynonym dihydrotestosterone receptor deficiency OMIM:300068 androgen insensitivity syndrome OMIM:300068 updated dihydrotestosterone receptor deficiency OMIM:300068 OMIM MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS OMIM:300068 androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical updated AIS OMIM:300068 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Gordon syndrome gordon syndrome OMIM:114300 arthrogryposis, distal, type 3 NCIT:C123252 updated Gordon syndrome OMIM:114300 OMIM -MONDO:0019188 Rubinstein-Taybi syndrome oio:hasExactSynonym oio:hasRelatedSynonym RSTS RSTS rsts OMIM:180849 rubinstein-taybi syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007593 updated RSTS OMIM:180849 OMIM -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 updated cerebrohepatorenal syndrome OMIM:214100 OMIM MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome GARD:0010341, OMIMPS:603387 updated megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome OMIMPS:603387 OMIM MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym oio:hasRelatedSynonym osteoporosis, juvenile OMIM:259750 osteoporosis, juvenile OMIM:259750 updated osteoporosis, juvenile OMIM:259750 OMIM MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym oio:hasRelatedSynonym T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like OMIM:618398 updated T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE OMIM:618398 OMIM -MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome OMIM:500004 retinitis pigmentosa-deafness syndrome Orphanet:886 updated retinitis pigmentosa-deafness syndrome OMIM:500004 OMIM MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY hemolytic anemia due to glutathione reductase deficiency OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 OMIM:618660 updated HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM:618660 OMIM MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym EDS II, formerly EDS II, formerly eds ii, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 updated EDS II, formerly OMIM:130010 OMIM MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers Danlos syndrome, mild Classic type, formerly Ehlers Danlos syndrome, mild Classic type, formerly ehlers Danlos syndrome, mild classic type, formerly OMIM:130010 ehlers-danlos syndrome, classic type, 2 OMIM:130010 updated Ehlers Danlos syndrome, mild Classic type, formerly OMIM:130010 OMIM @@ -88519,25 +85626,18 @@ MONDO:0019587 autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym o MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive OMIM:607197 deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 updated deafness, autosomal recessive OMIM:607197 OMIM MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive deafness, autosomal recessive Deafness, autosomal recessive OMIMPS:220290 Deafness, autosomal recessive MONDO:0011791, OMIM:607197, OMIMPS:220290 updated deafness, autosomal recessive OMIMPS:220290 OMIM MONDO:0019623 hereditary angioedema oio:hasExactSynonym oio:hasRelatedSynonym angioedema, hereditary angioedema, hereditary Angioedema, Hereditary OMIMPS:106100 Angioedema, Hereditary GARD:0005979 updated angioedema, hereditary OMIMPS:106100 OMIM -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia OMIM:607086 aortic aneurysm, familial thoracic 1 Orphanet:229 updated annuloaortic ectasia OMIM:607086 OMIM MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym SEMD, Pakistani type SEMD, Pakistani type semd, pakistani type OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 updated SEMD, Pakistani type OMIM:612847 OMIM MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes MONDO:Lexical, OMIM:612847 updated brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 OMIM MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplasia and premature pubarche OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes OMIM:612847 updated spondylodysplasia and premature pubarche OMIM:612847 OMIM MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type oio:hasExactSynonym oio:hasRelatedSynonym BCYM4 OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612847, MONDO:Lexical updated BCYM4 OMIM:612847 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity oio:hasExactSynonym oio:hasNarrowSynonym SEMDJL1 OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:93359 updated SEMDJL1 OMIM:271640 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MULCHANDANI-BHOJ-CONLIN syndrome MULCHANDANI-BHOJ-CONLIN syndrome mulchandani-bhoj-conlin syndrome OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 updated MULCHANDANI-BHOJ-CONLIN syndrome OMIM:617352 OMIM MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym uniparental disomy, maternal, chromosome 20 OMIM:617352 mulchandani-bhoj-conlin syndrome OMIM:617352 updated uniparental disomy, maternal, chromosome 20 OMIM:617352 OMIM MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym oio:hasRelatedSynonym MBCS OMIM:617352 mulchandani-bhoj-conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617352 updated MBCS OMIM:617352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym oio:hasRelatedSynonym anemia, autoimmune hemolytic OMIM:205700 anemia, autoimmune hemolytic OMIM:205700 updated anemia, autoimmune hemolytic OMIM:205700 OMIM -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular canal defect OMIM:606215 atrioventricular septal defect DOID:0050651 updated atrioventricular canal defect OMIM:606215 OMIM -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect OMIM:606215 atrioventricular septal defect Orphanet:98722 updated atrioventricular septal defect OMIM:606215 OMIM -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym endocardial cushion defect OMIM:606215 atrioventricular septal defect DOID:0050651 updated endocardial cushion defect OMIM:606215 OMIM -MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD OMIM:606215 atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 updated AVSD OMIM:606215 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect OMIMPS:606215 Atrioventricular septal defect Orphanet:98722 updated atrioventricular septal defect OMIMPS:606215 OMIM MONDO:0020380 autosomal dominant cerebellar ataxia oio:hasExactSynonym oio:hasBroadSynonym spinocerebellar ataxia spinocerebellar ataxia Spinocerebellar ataxia OMIMPS:164400 Spinocerebellar ataxia DOID:1441 updated spinocerebellar ataxia OMIMPS:164400 OMIM MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency oio:hasExactSynonym oio:hasRelatedSynonym molybdenum cofactor deficiency molybdenum cofactor deficiency Molybdenum cofactor deficiency OMIMPS:252150 Molybdenum cofactor deficiency OMIMPS:252150 updated molybdenum cofactor deficiency OMIMPS:252150 OMIM MONDO:0020495 PEHO-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym PEHOL OMIM:617507 peho-like syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617507 updated PEHOL OMIM:617507 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 oio:hasExactSynonym oio:hasRelatedSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 Orphanet:99854 updated Cree leukoencephalopathy OMIM:620315 OMIM MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Golabi-Rosen syndrome Golabi-Rosen syndrome golabi-rosen syndrome OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 updated Golabi-Rosen syndrome OMIM:312870 OMIM MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Sgbs Sgbs sgbs OMIM:312870 simpson-golabi-behmel syndrome, type 1 OMIM:312870 updated Sgbs OMIM:312870 OMIM MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Simpson-Golabi-Behmel syndrome, type 1 Simpson-Golabi-Behmel syndrome, type 1 simpson-golabi-behmel syndrome, type 1 OMIM:312870 simpson-golabi-behmel syndrome, type 1 MONDO:Lexical, OMIM:312870 updated Simpson-Golabi-Behmel syndrome, type 1 OMIM:312870 OMIM @@ -88545,13 +85645,11 @@ MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 oio:hasExactSynonym oio:hasR MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome Liddle syndrome liddle syndrome OMIM:177200 liddle syndrome 1 OMIM:177200 updated Liddle syndrome OMIM:177200 OMIM MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Pseudoaldosteronism Pseudoaldosteronism pseudoaldosteronism OMIM:177200 liddle syndrome 1 OMIM:177200 updated Pseudoaldosteronism OMIM:177200 OMIM MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LIDLS1 OMIM:177200 liddle syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:177200 updated LIDLS1 OMIM:177200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020607 Liddle syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Liddle syndrome OMIMPS:177200 Liddle syndrome OMIM:177200 updated Liddle syndrome OMIMPS:177200 OMIM MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 oio:hasExactSynonym oio:hasRelatedSynonym MGRISCE2 OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618097 updated MGRISCE2 OMIM:618097 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym multisynostotic osteodysgenesis with long bone fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 updated multisynostotic osteodysgenesis with long bone fractures OMIM:207410 OMIM MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym osteodysgenesis, multisynostotic, with fractures OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 updated osteodysgenesis, multisynostotic, with fractures OMIM:207410 OMIM MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis Syndrome trapezoidocephaly-synostosis syndrome OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 updated trapezoidocephaly-synostosis Syndrome OMIM:207410 OMIM MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis oio:hasExactSynonym oio:hasRelatedSynonym ABS2 OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:207410 updated ABS2 OMIM:207410 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:229200 brittle cornea syndrome 1 OMIM:601776 updated Ehlers-Danlos syndrome, type Vib, formerly OMIM:229200 OMIM MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Arthrogryposis, Distal, with peculiar facies and hydronephrosis Arthrogryposis, Distal, with peculiar facies and hydronephrosis arthrogryposis, distal, with peculiar facies and hydronephrosis OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 updated Arthrogryposis, Distal, with peculiar facies and hydronephrosis OMIM:601776 OMIM MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Dundar syndrome Dundar syndrome dundar syndrome OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 updated Dundar syndrome OMIM:601776 OMIM MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, musculocontractural type, 1 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:601776 updated Ehlers-Danlos syndrome, musculocontractural type, 1 OMIM:601776 OMIM @@ -88567,7 +85665,6 @@ MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, periodontosis type Ehlers-Danlos syndrome, periodontosis type ehlers-danlos syndrome, periodontosis type OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 updated Ehlers-Danlos syndrome, periodontosis type OMIM:130080 OMIM MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type 8 Ehlers-Danlos syndrome, type 8 ehlers-danlos syndrome, type 8 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 OMIM:130080 updated Ehlers-Danlos syndrome, type 8 OMIM:130080 OMIM MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 oio:hasExactSynonym oio:hasRelatedSynonym EDSPD1 OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130080 updated EDSPD1 OMIM:130080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:122600 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 updated spondylothoracic dysostosis OMIM:122600 OMIM MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym vertebral anomalies OMIM:277300 spondylocostal dysostosis 1, autosomal recessive OMIM:277300 updated vertebral anomalies OMIM:277300 OMIM MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysostosis OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 updated spondylothoracic dysostosis OMIM:277300 OMIM MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym spondylothoracic dysplasia OMIM:277300 spondylocostal dysostosis 1, autosomal recessive http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:277300 updated spondylothoracic dysplasia OMIM:277300 OMIM @@ -88585,7 +85682,6 @@ MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelated MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary iron-loading Anemia hereditary iron-loading Anemia hereditary iron-loading anemia OMIM:300751 anemia, sideroblastic, 1 OMIM:300751 updated hereditary iron-loading Anemia OMIM:300751 OMIM MONDO:0020721 X-linked sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym SIDBA1 OMIM:300751 anemia, sideroblastic, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300751 updated SIDBA1 OMIM:300751 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym urolithiasis, calcium oxalate OMIM:167030 nephrolithiasis, calcium oxalate, 1 DOID:585, OMIM:167030 updated urolithiasis, calcium oxalate OMIM:167030 OMIM -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 oio:hasExactSynonym oio:hasRelatedSynonym nephrolithiasis, calcium oxalate nephrolithiasis, calcium oxalate Nephrolithiasis, calcium oxalate OMIMPS:167030 Nephrolithiasis, calcium oxalate OMIM:167030, DOID:585 updated nephrolithiasis, calcium oxalate OMIMPS:167030 OMIM MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-alpha, 25-hydroxyvitamin d3 deficiency, selective OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 updated 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective OMIM:264700 OMIM MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 1-Alpha-Hydroxylase deficiency 1-Alpha-Hydroxylase deficiency 1-alpha-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 updated 1-Alpha-Hydroxylase deficiency OMIM:264700 OMIM MONDO:0020723 vitamin D-dependent rickets, type 1A oio:hasExactSynonym oio:hasRelatedSynonym 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-Hydroxylase deficiency 25-hydroxycholecalciferol-1-hydroxylase deficiency OMIM:264700 vitamin d hydroxylation-deficient rickets, type 1a OMIM:264700 updated 25-hydroxycholecalciferol-1-Hydroxylase deficiency OMIM:264700 OMIM @@ -88599,7 +85695,6 @@ MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelat MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 updated cerebral capillary malformations OMIM:116860 OMIM MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 updated cerebral cavernous malformations OMIM:116860 OMIM MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical updated CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020724 cerebral cavernous malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 updated cerebral cavernous malformations OMIMPS:116860 OMIM MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym Mckd Mckd mckd OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 updated Mckd OMIM:174000 OMIM MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidneys, medullary type OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 OMIM:174000 updated polycystic kidneys, medullary type OMIM:174000 OMIM MONDO:0020727 combined oxidative phosphorylation deficiency 22 oio:hasExactSynonym oio:hasRelatedSynonym COXPD22 OMIM:616045 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:616045 updated COXPD22 OMIM:616045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88609,7 +85704,6 @@ MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym re MONDO:0020728 hypouricemia, renal 1 oio:hasExactSynonym oio:hasRelatedSynonym RHUC1 OMIM:220150 hypouricemia, renal, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220150, MONDO:Lexical updated RHUC1 OMIM:220150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia 1, autosomal recessive OMIM:601495 agammaglobulinemia 1, autosomal recessive MONDO:Lexical, OMIM:601495 updated agammaglobulinemia 1, autosomal recessive OMIM:601495 OMIM MONDO:0020729 autosomal recessive agammaglobulinemia 1 oio:hasExactSynonym oio:hasRelatedSynonym agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to IGHM defect agammaglobulinemia, autosomal recessive, due to ighm defect OMIM:601495 agammaglobulinemia 1, autosomal recessive OMIM:601495 updated agammaglobulinemia, autosomal recessive, due to IGHM defect OMIM:601495 OMIM -MONDO:0020730 carpal tunnel syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym carpal tunnel syndrome carpal tunnel syndrome Carpal tunnel syndrome OMIMPS:115430 Carpal tunnel syndrome OMIM:115430 updated carpal tunnel syndrome OMIMPS:115430 OMIM MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Cushing symphalangism Cushing symphalangism cushing symphalangism OMIM:185800 symphalangism, proximal, 1a OMIM:185800 updated Cushing symphalangism OMIM:185800 OMIM MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym Sym1 Sym1 sym1 OMIM:185800 symphalangism, proximal, 1a OMIM:185800 updated Sym1 OMIM:185800 OMIM MONDO:0020733 proximal symphalangism 1A oio:hasExactSynonym oio:hasRelatedSynonym hereditary absence of the proximal interphalangeal joints OMIM:185800 symphalangism, proximal, 1a OMIM:185800 updated hereditary absence of the proximal interphalangeal joints OMIM:185800 OMIM @@ -88647,29 +85741,23 @@ MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 1 CONE-ROD DYSTROPHY AND HEARING LOSS 1 cone-rod dystrophy and hearing loss 1 OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 updated CONE-ROD DYSTROPHY AND HEARING LOSS 1 OMIM:617236 OMIM MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym Crdhl Crdhl crdhl OMIM:617236 cone-rod dystrophy and hearing loss 1 OMIM:617236 updated Crdhl OMIM:617236 OMIM MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL1 OMIM:617236 cone-rod dystrophy and hearing loss 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617236 updated CRDHL1 OMIM:617236 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020778 cone-rod dystrophy and hearing loss 1 oio:hasExactSynonym oio:hasBroadSynonym cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss Cone-rod dystrophy and hearing loss OMIMPS:617236 Cone-rod dystrophy and hearing loss OMIM:617236, OMIM:genemap2 updated cone-rod dystrophy and hearing loss OMIMPS:617236 OMIM MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CONE-ROD DYSTROPHY AND HEARING LOSS 2 CONE-ROD DYSTROPHY AND HEARING LOSS 2 cone-rod dystrophy and hearing loss 2 OMIM:618358 cone-rod dystrophy and hearing loss 2 OMIM:618358 updated CONE-ROD DYSTROPHY AND HEARING LOSS 2 OMIM:618358 OMIM MONDO:0020780 cone-rod dystrophy and hearing loss 2 oio:hasExactSynonym oio:hasRelatedSynonym CRDHL2 OMIM:618358 cone-rod dystrophy and hearing loss 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618358 updated CRDHL2 OMIM:618358 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 OMIM:617186 updated ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 OMIM:617186 OMIM MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasRelatedSynonym PEBEL1 OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617186 updated PEBEL1 OMIM:617186 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 oio:hasExactSynonym oio:hasBroadSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM:617186, OMIM:genemap2 updated encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186 OMIM MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation capillary malformation-arteriovenous malformation OMIM:608354 capillary malformation-arteriovenous malformation 1 OMIM:608354 updated Capillary Malformation-Arteriovenous Malformation OMIM:608354 OMIM -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation OMIMPS:608354 Capillary malformation-arteriovenous malformation OMIM:608354 updated Capillary Malformation-Arteriovenous Malformation OMIMPS:608354 OMIM MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 capillary malformation-arteriovenous malformation 2 OMIM:618196 capillary malformation-arteriovenous malformation 2 OMIM:618196 updated CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 OMIM:618196 OMIM MONDO:0020785 capillary malformation-arteriovenous malformation 2 oio:hasExactSynonym oio:hasRelatedSynonym CMAVM2 OMIM:618196 capillary malformation-arteriovenous malformation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618196 updated CMAVM2 OMIM:618196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 hypomagnesemia, seizures, and mental retardation 1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 OMIM:616418 updated HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 OMIM:616418 OMIM MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR1 OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616418 updated HOMGSMR1 OMIM:616418 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 oio:hasExactSynonym oio:hasBroadSynonym hypomagnesemia, seizures, and mental retardation hypomagnesemia, seizures, and mental retardation Hypomagnesemia, seizures, and mental retardation OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation OMIM:genemap2, OMIM:616418 updated hypomagnesemia, seizures, and mental retardation OMIMPS:616418 OMIM MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 oio:hasExactSynonym oio:hasRelatedSynonym HOMGSMR2 OMIM:618314 hypomagnesemia, seizures, and impaired intellectual development 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618314 updated HOMGSMR2 OMIM:618314 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome pseudo-torch syndrome OMIM:251290 pseudo-torch syndrome 1 OMIM:251290 updated pseudo-TORCH syndrome OMIM:251290 OMIM -MONDO:0020789 pseudo-TORCH syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym pseudo-TORCH syndrome pseudo-TORCH syndrome Pseudo-TORCH syndrome OMIMPS:251290 Pseudo-TORCH syndrome OMIM:251290 updated pseudo-TORCH syndrome OMIMPS:251290 OMIM MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym CORNEAL DYSTROPHY, MEESMANN, 1 CORNEAL DYSTROPHY, MEESMANN, 1 corneal dystrophy, meesmann, 1 OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated CORNEAL DYSTROPHY, MEESMANN, 1 OMIM:122100 OMIM MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Juvenile Epithelial, of Meesmann Corneal Dystrophy, Juvenile Epithelial, of Meesmann corneal dystrophy, juvenile epithelial, of meesmann OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated Corneal Dystrophy, Juvenile Epithelial, of Meesmann OMIM:122100 OMIM MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Corneal Dystrophy, Meesmann Epithelial Corneal Dystrophy, Meesmann Epithelial corneal dystrophy, meesmann epithelial OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated Corneal Dystrophy, Meesmann Epithelial OMIM:122100 OMIM MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym Meesmann Corneal Dystrophy Meesmann Corneal Dystrophy meesmann corneal dystrophy OMIM:122100 corneal dystrophy, meesmann, 1 OMIM:122100 updated Meesmann Corneal Dystrophy OMIM:122100 OMIM MONDO:0020791 corneal dystrophy, Meesmann, 1 oio:hasExactSynonym oio:hasRelatedSynonym MECD1 OMIM:122100 corneal dystrophy, meesmann, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:122100 updated MECD1 OMIM:122100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 updated oculopharyngodistal myopathy OMIM:164310 OMIM -MONDO:0020793 oculopharyngodistal myopathy 1 oio:hasExactSynonym oio:hasBroadSynonym oculopharyngodistal myopathy oculopharyngodistal myopathy Oculopharyngodistal myopathy OMIMPS:164310 Oculopharyngodistal myopathy OMIM:164310 updated oculopharyngodistal myopathy OMIMPS:164310 OMIM MONDO:0021011 hereditary progressive chorea without dementia oio:hasExactSynonym oio:hasRelatedSynonym BCH BCH bch OMIM:118700 chorea, benign hereditary http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 updated BCH OMIM:118700 OMIM MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym Amish brittle hair brain syndrome Amish brittle hair brain syndrome amish brittle hair brain syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 updated Amish brittle hair brain syndrome OMIM:234050 OMIM MONDO:0021013 trichothiodystrophy 4, nonphotosensitive oio:hasExactSynonym oio:hasRelatedSynonym BIDS syndrome BIDS syndrome bids syndrome OMIM:234050 trichothiodystrophy 4, nonphotosensitive OMIM:234050 updated BIDS syndrome OMIM:234050 OMIM @@ -88682,7 +85770,6 @@ MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRela MONDO:0021019 X-linked recessive ocular albinism oio:hasExactSynonym oio:hasRelatedSynonym albinism, ocular, type 1 OMIM:300500 albinism, ocular, type 1 OMIM:300500 updated albinism, ocular, type 1 OMIM:300500 OMIM MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia OMIMPS:149400 Hyperekplexia Orphanet:3197 updated hyperekplexia OMIMPS:149400 OMIM MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:118900 cirrhosis, familial OMIM:118900 updated cirrhosis, familial OMIM:118900 OMIM -MONDO:0021025 cirrhosis, familial, with antigenemia oio:hasExactSynonym oio:hasRelatedSynonym cirrhosis, familial OMIM:215600 cirrhosis, familial OMIM:118900 updated cirrhosis, familial OMIM:215600 OMIM MONDO:0021035 alopecia-intellectual disability syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym APMR APMR apmr OMIM:203650 alopecia-intellectual disability syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:203650 updated APMR OMIM:203650 OMIM MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym adenomatous polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 updated adenomatous polyposis of the colon OMIM:175100 OMIM MONDO:0021056 familial adenomatous polyposis 1 oio:hasExactSynonym oio:hasRelatedSynonym familial polyposis of the colon OMIM:175100 familial adenomatous polyposis 1 OMIM:175100 updated familial polyposis of the colon OMIM:175100 OMIM @@ -88699,7 +85786,6 @@ MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant oio:hasExa MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym disseminated sclerosis OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200 updated disseminated sclerosis OMIM:126200 OMIM MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to OMIM:126200 multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical updated multiple sclerosis, susceptibility to OMIM:126200 OMIM MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym MS OMIM:126200 multiple sclerosis, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:126200, MONDO:Lexical updated MS OMIM:126200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0021571 multiple sclerosis, susceptibility to 1 oio:hasExactSynonym oio:hasRelatedSynonym multiple sclerosis, susceptibility to multiple sclerosis, susceptibility to Multiple sclerosis, susceptibility to OMIMPS:126200 Multiple sclerosis, susceptibility to OMIM:126200, MONDO:Lexical updated multiple sclerosis, susceptibility to OMIMPS:126200 OMIM MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA central centrifugal cicatricial alopecia OMIM:618352 central centrifugal cicatricial alopecia OMIM:618352 updated CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA OMIM:618352 OMIM MONDO:0022113 central centrifugal cicatricial alopecia oio:hasExactSynonym oio:hasRelatedSynonym CCCA OMIM:618352 central centrifugal cicatricial alopecia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618352 updated CCCA OMIM:618352 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym hair defect with photosensitivity and mental retardation OMIM:234030 hair defect with photosensitivity and impaired intellectual development http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:234030 updated hair defect with photosensitivity and mental retardation OMIM:234030 OMIM @@ -88713,9 +85799,6 @@ MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid hypoplasia OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 updated thyroid hypoplasia OMIM:218700 OMIM MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyroid, ectopic OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 updated thyroid, ectopic OMIM:218700 OMIM MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 OMIM:218700 updated thyrotropin resistance OMIM:218700 OMIM -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 OMIM:218700 updated thyrotropin resistance OMIM:275200 OMIM -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym resistance to thyrotropin OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 updated resistance to thyrotropin OMIM:609893 OMIM -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 oio:hasExactSynonym oio:hasRelatedSynonym thyrotropin resistance OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 OMIM:218700 updated thyrotropin resistance OMIM:609893 OMIM MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Drs Drs drs OMIM:126800 duane retraction syndrome 1 OMIM:126800 updated Drs OMIM:126800 OMIM MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane anomaly Duane anomaly duane anomaly OMIM:126800 duane retraction syndrome 1 OMIM:126800 updated Duane anomaly OMIM:126800 OMIM MONDO:0024265 Duane syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Duane syndrome Duane syndrome duane syndrome OMIM:126800 duane retraction syndrome 1 OMIM:126800 updated Duane syndrome OMIM:126800 OMIM @@ -88729,7 +85812,6 @@ MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A oio:hasExact MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Robinow dwarfism Robinow dwarfism robinow dwarfism OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 updated Robinow dwarfism OMIM:180700 OMIM MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym acral dysostosis with Facial and genital abnormalities acral dysostosis with Facial and genital abnormalities acral dysostosis with facial and genital abnormalities OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 updated acral dysostosis with Facial and genital abnormalities OMIM:180700 OMIM MONDO:0024455 autosomal dominant Robinow syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fetal face syndrome OMIM:180700 robinow syndrome, autosomal dominant 1 OMIM:180700 updated fetal face syndrome OMIM:180700 OMIM -MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:308500 iris hypoplasia with glaucoma MESH:C535535, OMIM:601631 updated iris hypoplasia with glaucoma OMIM:308500 OMIM MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym glaucoma iridogoniodysplasia, familial OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 updated glaucoma iridogoniodysplasia, familial OMIM:601631 OMIM MONDO:0024456 anterior segment dysgenesis 3 oio:hasExactSynonym oio:hasRelatedSynonym iris hypoplasia with glaucoma OMIM:601631 anterior segment dysgenesis 3 MESH:C535535, OMIM:601631 updated iris hypoplasia with glaucoma OMIM:601631 OMIM MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym oio:hasRelatedSynonym neuroaxonal dystrophy, infantile OMIM:256600 neurodegeneration with brain iron accumulation 2a OMIM:256600 updated neuroaxonal dystrophy, infantile OMIM:256600 OMIM @@ -88747,7 +85829,6 @@ MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital scalp defects with distal limb reduction anomalies OMIM:100300 adams-oliver syndrome 1 OMIM:100300 updated congenital scalp defects with distal limb reduction anomalies OMIM:100300 OMIM MONDO:0024506 Adams-Oliver syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym AOS AOS aos OMIM:100300 adams-oliver syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:100300 updated AOS OMIM:100300 OMIM MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasRelatedSynonym aniridia II, formerly aniridia II, formerly aniridia ii, formerly OMIM:106210 aniridia 1 OMIM:106210 updated aniridia II, formerly OMIM:106210 OMIM -MONDO:0024507 aniridia 1 oio:hasExactSynonym oio:hasBroadSynonym aniridia aniridia Aniridia OMIMPS:106210 Aniridia OMIM:106210, OMIM:genemap2 updated aniridia OMIMPS:106210 OMIM MONDO:0024517 SMARCB1-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurilemmomatosis, congenital cutaneous OMIM:162091 schwannomatosis 1 OMIM:162091 updated neurilemmomatosis, congenital cutaneous OMIM:162091 OMIM MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym hereditary renal aplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 updated hereditary renal aplasia OMIM:191830 OMIM MONDO:0024519 renal hypodysplasia/aplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym renal adysplasia OMIM:191830 renal hypodysplasia/aplasia 1 OMIM:191830 updated renal adysplasia OMIM:191830 OMIM @@ -88758,21 +85839,16 @@ MONDO:0024521 aortic aneurysm, familial abdominal, 1 oio:hasExactSynonym oio:has MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym amyloidosis, familial cutaneous lichen OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 updated amyloidosis, familial cutaneous lichen OMIM:105250 OMIM MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym lichen amyloidosis, familial OMIM:105250 amyloidosis, primary localized cutaneous, 1 OMIM:105250 updated lichen amyloidosis, familial OMIM:105250 OMIM MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA PCA pca OMIM:105250 amyloidosis, primary localized cutaneous, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 updated PCA OMIM:105250 OMIM -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 oio:hasExactSynonym oio:hasRelatedSynonym PCA OMIM:608911 choanal atresia, posterior http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:105250 updated PCA OMIM:608911 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic stenosis, calcific OMIM:109730 aortic valve disease 1 OMIM:109730 updated aortic stenosis, calcific OMIM:109730 OMIM MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease OMIM:109730 aortic valve disease 1 OMIM:109730 updated aortic valve disease OMIM:109730 OMIM MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, bicuspid OMIM:109730 aortic valve disease 1 OMIM:109730 updated aortic valve, bicuspid OMIM:109730 OMIM MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve, calcification of OMIM:109730 aortic valve disease 1 OMIM:109730 updated aortic valve, calcification of OMIM:109730 OMIM MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:109730 aortic valve disease 1 OMIM:109730 updated bicuspid aortic valve OMIM:109730 OMIM -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:614823 aortic valve disease 2 OMIM:109730 updated bicuspid aortic valve OMIM:614823 OMIM -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym bicuspid aortic valve OMIM:618496 aortic valve disease 3 OMIM:109730 updated bicuspid aortic valve OMIM:618496 OMIM -MONDO:0024523 aortic valve disease 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic valve disease aortic valve disease Aortic valve disease OMIMPS:109730 Aortic valve disease OMIM:109730 updated aortic valve disease OMIMPS:109730 OMIM MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome Fanconi renotubular syndrome fanconi renotubular syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 updated Fanconi renotubular syndrome OMIM:134600 OMIM MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi syndrome without cystinosis Fanconi syndrome without cystinosis fanconi syndrome without cystinosis OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 updated Fanconi syndrome without cystinosis OMIM:134600 OMIM MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Luder-Sheldon syndrome Luder-Sheldon syndrome luder-sheldon syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 updated Luder-Sheldon syndrome OMIM:134600 OMIM MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym adult Fanconi syndrome adult Fanconi syndrome adult fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 updated adult Fanconi syndrome OMIM:134600 OMIM MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym renal Fanconi syndrome renal Fanconi syndrome renal fanconi syndrome OMIM:134600 fanconi renotubular syndrome 1 OMIM:134600 updated renal Fanconi syndrome OMIM:134600 OMIM -MONDO:0024525 Fanconi renotubular syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fanconi renotubular syndrome OMIMPS:134600 Fanconi renotubular syndrome OMIM:134600 updated Fanconi renotubular syndrome OMIMPS:134600 OMIM MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Laband syndrome Laband syndrome laband syndrome OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 updated Laband syndrome OMIM:135500 OMIM MONDO:0024526 Zimmermann-Laband syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly OMIM:135500 zimmermann-laband syndrome 1 OMIM:135500 updated fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly OMIM:135500 OMIM MONDO:0024527 glomerulopathy with fibronectin deposits 1 oio:hasExactSynonym oio:hasRelatedSynonym glomerulopathy with giant fibrillar deposits OMIM:137950 glomerulopathy with fibronectin deposits 1 OMIM:137950 updated glomerulopathy with giant fibrillar deposits OMIM:137950 OMIM @@ -88790,15 +85866,11 @@ MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Beth MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasBroadSynonym Bethlem myopathy 1 Bethlem myopathy 1 bethlem myopathy 1 OMIM:158810 bethlem myopathy 1a OMIM:158810 updated Bethlem myopathy 1 OMIM:158810 OMIM MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, benign congenital OMIM:158810 bethlem myopathy 1a OMIM:158810 updated muscular dystrophy, benign congenital OMIM:158810 OMIM MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym myopathy, benign congenital, with contractures OMIM:158810 bethlem myopathy 1a OMIM:158810 updated myopathy, benign congenital, with contractures OMIM:158810 OMIM -MONDO:0024530 Bethlem myopathy 1A oio:hasExactSynonym oio:hasRelatedSynonym Bethlem myopathy OMIMPS:158810 Bethlem myopathy OMIM:158810 updated Bethlem myopathy OMIMPS:158810 OMIM MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 updated myopathy, tubular aggregate OMIM:160565 OMIM MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym tubular aggregate myopathy OMIM:160565 myopathy, tubular aggregate, 1 OMIM:160565 updated tubular aggregate myopathy OMIM:160565 OMIM MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym TAM1 OMIM:160565 myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:160565 updated TAM1 OMIM:160565 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024531 myopathy, tubular aggregate, 1 oio:hasExactSynonym oio:hasRelatedSynonym myopathy, tubular aggregate myopathy, tubular aggregate Myopathy, tubular aggregate OMIMPS:160565 Myopathy, tubular aggregate OMIM:160565 updated myopathy, tubular aggregate OMIMPS:160565 OMIM -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym OFC1 OMIM:119530 orofacial cleft 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 updated OFC1 OMIM:119530 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OFC OFC ofc OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 updated OFC OMIM:166780 OMIM MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym OTFCS OMIM:166780 otofaciocervical syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:166780 updated OTFCS OMIM:166780 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024532 otofaciocervical syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym otofaciocervical syndrome otofaciocervical syndrome Otofaciocervical syndrome OMIMPS:166780 Otofaciocervical syndrome OMIM:166780, OMIM:genemap2 updated otofaciocervical syndrome OMIMPS:166780 OMIM MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary arterial hypertension OMIM:178600 pulmonary hypertension, primary, 1 OMIM:178600 updated pulmonary arterial hypertension OMIM:178600 OMIM MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHT PHT pht OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 updated PHT OMIM:178600 OMIM MONDO:0024533 pulmonary hypertension, primary, 1 oio:hasExactSynonym oio:hasRelatedSynonym PPH1 OMIM:178600 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:178600 updated PPH1 OMIM:178600 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88823,12 +85895,10 @@ MONDO:0024538 basal ganglia calcification, idiopathic, 1 oio:hasExactSynonym oio MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 updated choroidal dystrophy, central areolar OMIM:215500 OMIM MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal sclerosis OMIM:215500 choroidal dystrophy, central areolar, 1 OMIM:215500 updated choroidal sclerosis OMIM:215500 OMIM MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym CACD1 OMIM:215500 choroidal dystrophy, central areolar, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:215500 updated CACD1 OMIM:215500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024539 choroidal dystrophy, central areolar, 1 oio:hasExactSynonym oio:hasRelatedSynonym choroidal dystrophy, central areolar choroidal dystrophy, central areolar Choroidal dystrophy, central areolar OMIMPS:215500 Choroidal dystrophy, central areolar OMIM:215500 updated choroidal dystrophy, central areolar OMIMPS:215500 OMIM MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Cardioauditory syndrome of Jervell and Lange-Nielsen Cardioauditory syndrome of Jervell and Lange-Nielsen cardioauditory syndrome of jervell and lange-nielsen OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 updated Cardioauditory syndrome of Jervell and Lange-Nielsen OMIM:220400 OMIM MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Surdo-Cardiac syndrome Surdo-Cardiac syndrome surdo-cardiac syndrome OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 updated Surdo-Cardiac syndrome OMIM:220400 OMIM MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deafness, congenital, and functional heart disease OMIM:220400 jervell and lange-nielsen syndrome 1 OMIM:220400 updated deafness, congenital, and functional heart disease OMIM:220400 OMIM MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym JLNS1 OMIM:220400 jervell and lange-nielsen syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:220400 updated JLNS1 OMIM:220400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Jervell and Lange-Nielsen syndrome OMIMPS:220400 Jervell and Lange-Nielsen syndrome OMIM:genemap2, OMIM:220400 updated Jervell and Lange-Nielsen syndrome OMIMPS:220400 OMIM MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym The syndrome The syndrome the syndrome OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 updated The syndrome OMIM:222470 OMIM MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 updated diarrhea, fatal infantile, with trichorrhexis nodosa OMIM:222470 OMIM MONDO:0024541 trichohepatoenteric syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym diarrhea, syndromic OMIM:222470 trichohepatoenteric syndrome 1 OMIM:222470 updated diarrhea, syndromic OMIM:222470 OMIM @@ -88844,7 +85914,6 @@ MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility OMIM:229200 brittle cornea syndrome 1 OMIM:229200 updated corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility OMIM:229200 OMIM MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym dysgenesis Mesodermalis corneae Et sclerae dysgenesis Mesodermalis corneae Et sclerae dysgenesis mesodermalis corneae et sclerae OMIM:229200 brittle cornea syndrome 1 OMIM:229200 updated dysgenesis Mesodermalis corneae Et sclerae OMIM:229200 OMIM MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCS1 OMIM:229200 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:229200 updated BCS1 OMIM:229200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024543 brittle cornea syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, type Vib, formerly Ehlers-Danlos syndrome, type Vib, formerly ehlers-danlos syndrome, type vib, formerly OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 OMIM:229200 updated Ehlers-Danlos syndrome, type Vib, formerly OMIM:601776 OMIM MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym MIYOSHI muscular dystrophy 1 MIYOSHI muscular dystrophy 1 miyoshi muscular dystrophy 1 OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 updated MIYOSHI muscular dystrophy 1 OMIM:254130 OMIM MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym Miyoshi myopathy Miyoshi myopathy miyoshi myopathy OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 updated Miyoshi myopathy OMIM:254130 OMIM MONDO:0024545 Miyoshi muscular dystrophy 1 oio:hasExactSynonym oio:hasRelatedSynonym muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 miyoshi muscular dystrophy 1 OMIM:254130 updated muscular dystrophy, distal, late-onset, autosomal recessive OMIM:254130 OMIM @@ -88854,8 +85923,6 @@ MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym Touraine-Solente-Gole syndrome Touraine-Solente-Gole syndrome touraine-solente-gole syndrome OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 updated Touraine-Solente-Gole syndrome OMIM:259100 OMIM MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM:259100 updated pachydermoperiostosis, autosomal recessive OMIM:259100 OMIM MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PHOAR1 OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:259100 updated PHOAR1 OMIM:259100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym PDP, autosomal recessive PDP, autosomal recessive pdp, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 updated PDP, autosomal recessive OMIM:614441 OMIM -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 oio:hasExactSynonym oio:hasRelatedSynonym pachydermoperiostosis, autosomal recessive OMIM:614441 phoar2-enteropathy syndrome OMIM:259100 updated pachydermoperiostosis, autosomal recessive OMIM:614441 OMIM MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym Pagen Pagen pagen OMIM:260370 pancreatic agenesis 1 OMIM:260370 updated Pagen OMIM:260370 OMIM MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic hypoplasia, congenital OMIM:260370 pancreatic agenesis 1 OMIM:260370 updated pancreatic hypoplasia, congenital OMIM:260370 OMIM MONDO:0024547 pancreatic agenesis 1 oio:hasExactSynonym oio:hasRelatedSynonym PAGEN1 OMIM:260370 pancreatic agenesis 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260370 updated PAGEN1 OMIM:260370 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88864,7 +85931,6 @@ MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym skin peeling, familial continuous generalized OMIM:270300 peeling skin syndrome 1 OMIM:270300 updated skin peeling, familial continuous generalized OMIM:270300 OMIM MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS OMIM:270300 OMIM MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 OMIM:270300 peeling skin syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS1 OMIM:270300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS PSS pss OMIM:601224 potocki-shaffer syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS OMIM:601224 OMIM MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FRONTOMETAPHYSEAL dysplasia 1 FRONTOMETAPHYSEAL dysplasia 1 frontometaphyseal dysplasia 1 OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 updated FRONTOMETAPHYSEAL dysplasia 1 OMIM:305620 OMIM MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym Fmd Fmd fmd OMIM:305620 frontometaphyseal dysplasia 1 OMIM:305620 updated Fmd OMIM:305620 OMIM MONDO:0024550 frontometaphyseal dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym FMD1 OMIM:305620 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:305620 updated FMD1 OMIM:305620 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -88888,7 +85954,6 @@ MONDO:0024552 linear skin defects with multiple congenital anomalies 1 oio:hasEx MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial myopathy and sideroblastic anemia OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM:600462 updated mitochondrial myopathy and sideroblastic anemia OMIM:600462 OMIM MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 oio:hasExactSynonym oio:hasRelatedSynonym MLASA1 OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600462 updated MLASA1 OMIM:600462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasRelatedSynonym D2HGA1 OMIM:600721 d-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600721 updated D2HGA1 OMIM:600721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 oio:hasExactSynonym oio:hasBroadSynonym D-2-hydroxyglutaric aciduria OMIMPS:600721 D-2-hydroxyglutaric aciduria OMIM:genemap2, OMIM:600721 updated D-2-hydroxyglutaric aciduria OMIMPS:600721 OMIM MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Lvm Lvm lvm OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 updated Lvm OMIM:604004 OMIM MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating megalencephalic leukoencephalopathy with subcortical cysts vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 updated Vacuolating megalencephalic leukoencephalopathy with subcortical cysts OMIM:604004 OMIM MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:hasExactSynonym oio:hasRelatedSynonym Van Der Knaap disease Van Der Knaap disease van der knaap disease OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM:604004 updated Van Der Knaap disease OMIM:604004 OMIM @@ -88898,7 +85963,6 @@ MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 oio:h MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 updated epilepsy, familial focal, with variable foci OMIM:604364 OMIM MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, partial, with variable foci OMIM:604364 epilepsy, familial focal, with variable foci 1 OMIM:604364 updated epilepsy, partial, with variable foci OMIM:604364 OMIM MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym FFEVF1 OMIM:604364 epilepsy, familial focal, with variable foci 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604364 updated FFEVF1 OMIM:604364 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0024556 epilepsy, familial focal, with variable foci 1 oio:hasExactSynonym oio:hasRelatedSynonym epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci Epilepsy, familial focal, with variable foci OMIMPS:604364 Epilepsy, familial focal, with variable foci OMIM:604364 updated epilepsy, familial focal, with variable foci OMIMPS:604364 OMIM MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym Atld Atld atld OMIM:604391 ataxia-telangiectasia-like disorder 1 OMIM:604391 updated Atld OMIM:604391 OMIM MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD1 OMIM:604391 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 updated ATLD1 OMIM:604391 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Rusat Rusat rusat OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM:605432 updated Rusat OMIM:605432 OMIM @@ -88909,7 +85973,6 @@ MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRe MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 updated aortic aneurysm, familial thoracic OMIM:607086 OMIM MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic dissection, familial OMIM:607086 aortic aneurysm, familial thoracic 1 OMIM:607086 updated aortic dissection, familial OMIM:607086 OMIM MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym FAA1 FAA1 faa1 OMIM:607086 aortic aneurysm, familial thoracic 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607086 updated FAA1 OMIM:607086 OMIM -MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym aortic aneurysm, familial thoracic aortic aneurysm, familial thoracic Aortic aneurysm, familial thoracic OMIMPS:607086 Aortic aneurysm, familial thoracic OMIM:607086 updated aortic aneurysm, familial thoracic OMIMPS:607086 OMIM MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus 1 OMIM:607411 patent ductus arteriosus 1 OMIM:607411 updated patent ductus arteriosus 1 OMIM:607411 OMIM MONDO:0024560 PDA1 oio:hasExactSynonym oio:hasRelatedSynonym PDA PDA pda OMIM:607411 patent ductus arteriosus 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607411 updated PDA OMIM:607411 OMIM MONDO:0024561 vitelliform macular dystrophy 3 oio:hasExactSynonym oio:hasRelatedSynonym foveomacular dystrophy, adult-onset OMIM:608161 macular dystrophy, vitelliform, 3 OMIM:608161 updated foveomacular dystrophy, adult-onset OMIM:608161 OMIM @@ -88936,7 +85999,6 @@ MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteris MONDO:0024568 infantile liver failure syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ILFS1 OMIM:615438 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:615438 updated ILFS1 OMIM:615438 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024570 hyperparathyroidism 4 oio:hasExactSynonym oio:hasRelatedSynonym HRPT4 OMIM:617343 hyperparathyroidism 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617343 updated HRPT4 OMIM:617343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym MDCCAID OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617404 updated MDCCAID OMIM:617404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0025193 oculopharyngodistal myopathy oio:hasExactSynonym oio:hasRelatedSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 oculopharyngodistal myopathy 1 OMIM:164310 updated faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 OMIM MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 1 X INACTIVATION, FAMILIAL SKEWED, 1 x inactivation, familial skewed, 1 OMIM:300087 x inactivation, familial skewed, 1 OMIM:300087 updated X INACTIVATION, FAMILIAL SKEWED, 1 OMIM:300087 OMIM MONDO:0026404 X inactivation, familial skewed, 1 oio:hasExactSynonym oio:hasRelatedSynonym SXI1 OMIM:300087 x inactivation, familial skewed, 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300087 updated SXI1 OMIM:300087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0026426 X inactivation, familial skewed, 2 oio:hasExactSynonym oio:hasRelatedSynonym X INACTIVATION, FAMILIAL SKEWED, 2 X INACTIVATION, FAMILIAL SKEWED, 2 x inactivation, familial skewed, 2 OMIM:300179 x inactivation, familial skewed, 2 OMIM:300179 updated X INACTIVATION, FAMILIAL SKEWED, 2 OMIM:300179 OMIM @@ -88980,7 +86042,6 @@ MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynony MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked oio:hasExactSynonym oio:hasRelatedSynonym IMD74 OMIM:301051 immunodeficiency 74, covid19-related, X-linked http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301051 updated IMD74 OMIM:301051 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym chromosome 9q34.3 deletion syndrome OMIM:610253 kleefstra syndrome 1 DOID:0070075 updated chromosome 9q34.3 deletion syndrome OMIM:610253 OMIM MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym KLEFS1 OMIM:610253 kleefstra syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:610253 updated KLEFS1 OMIM:610253 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0027407 Kleefstra syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Kleefstra syndrome OMIMPS:610253 Kleefstra syndrome DOID:0070075 updated Kleefstra syndrome OMIMPS:610253 OMIM MONDO:0027451 autosomal recessive cutis laxa type 2D oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type 2d OMIM:617403 cutis laxa, autosomal recessive, type 2d OMIM:617403 updated cutis laxa, autosomal recessive, type 2D OMIM:617403 OMIM MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type 2c OMIM:617402 cutis laxa, autosomal recessive, type 2c OMIM:617402 updated cutis laxa, autosomal recessive, type 2C OMIM:617402 OMIM MONDO:0027462 autosomal recessive cutis laxa type 2C oio:hasExactSynonym oio:hasRelatedSynonym ARCL2C OMIM:617402 cutis laxa, autosomal recessive, type 2c http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617402 updated ARCL2C OMIM:617402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -89021,8 +86082,6 @@ MONDO:0029148 spermatogenic failure 34 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 77 OMIM:618915 deafness, autosomal dominant 77 OMIM:618915, OMIM:genemap2 updated deafness, autosomal dominant 77 OMIM:618915 OMIM MONDO:0030058 hearing loss, autosomal dominant 77 oio:hasExactSynonym oio:hasNarrowSynonym DFNA77 OMIM:618915 deafness, autosomal dominant 77 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618915 updated DFNA77 OMIM:618915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 oio:hasExactSynonym oio:hasRelatedSynonym herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 OMIM:619396 updated herpes simplex encephalitis, susceptibility to, 7 OMIM:619396 OMIM -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 inflammatory bowel disease 25, autosomal recessive OMIM:619398 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:612567 OMIM -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 inflammatory bowel disease 28, autosomal recessive OMIM:619398 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:613148 OMIM MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive OMIM:619398 updated inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 OMIM MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 updated deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 OMIM MONDO:0030480 hearing loss, autosomal recessive 119 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 119 OMIM:619615 deafness, autosomal recessive 119 OMIM:619615 updated deafness, autosomal recessive 119 OMIM:619615 OMIM @@ -89031,8 +86090,6 @@ MONDO:0030719 hearing loss, autosomal dominant 82 oio:hasExactSynonym oio:hasNar MONDO:0030723 hearing loss, autosomal dominant 83 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 83 OMIM:619808 deafness, autosomal dominant 83 OMIM:619808 updated deafness, autosomal dominant 83 OMIM:619808 OMIM MONDO:0030724 hearing loss, autosomal dominant 84 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 84 OMIM:619810 deafness, autosomal dominant 84 OMIM:619810 updated deafness, autosomal dominant 84 OMIM:619810 OMIM MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities oio:hasExactSynonym oio:hasBroadSynonym NEDMILEG OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619092 updated NEDMILEG OMIM:619092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0030869 spermatogenic failures 50 oio:hasExactSynonym oio:hasBroadSynonym spermatogenic failure spermatogenic failure Spermatogenic failure OMIMPS:258150 Spermatogenic failure OMIM:619145, OMIM:genemap2 updated spermatogenic failure OMIMPS:258150 OMIM -MONDO:0030903 Hermansky-Pudlak syndrome 11 oio:hasExactSynonym oio:hasBroadSynonym Hermansky-Pudlak syndrome OMIMPS:203300 Hermansky-Pudlak syndrome OMIM:619172 updated Hermansky-Pudlak syndrome OMIMPS:203300 OMIM MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 117 OMIM:619174 deafness, autosomal recessive 117 OMIM:genemap2, OMIM:619174 updated deafness, autosomal recessive 117 OMIM:619174 OMIM MONDO:0030905 hearing loss, autosomal recessive 117 oio:hasExactSynonym oio:hasNarrowSynonym DFNB117 OMIM:619174 deafness, autosomal recessive 117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619174 updated DFNB117 OMIM:619174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0030907 intellectual disability, X-linked 106 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked 106 OMIM:300997 intellectual developmental disorder, X-linked 106 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:300997 updated mental retardation, X-linked 106 OMIM:300997 OMIM @@ -89066,21 +86123,12 @@ MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio: MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures oio:hasExactSynonym oio:hasRelatedSynonym MRD55 OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617831 updated MRD55 OMIM:617831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, autosomal dominant 56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 updated mental retardation, autosomal dominant 56 OMIM:617854 OMIM MONDO:0030922 intellectual disability, autosomal dominant 56 oio:hasExactSynonym oio:hasRelatedSynonym MRD56 OMIM:617854 intellectual developmental disorder, autosomal dominant 56 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:617854 updated MRD56 OMIM:617854 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 oio:hasExactSynonym oio:hasBroadSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:genemap2, OMIM:619184 updated short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 OMIM MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 80 OMIM:619274 deafness, autosomal dominant 80 OMIM:genemap2, OMIM:619274 updated deafness, autosomal dominant 80 OMIM:619274 OMIM MONDO:0030998 hearing loss, autosomal dominant 80 oio:hasExactSynonym oio:hasNarrowSynonym DFNA80 OMIM:619274 deafness, autosomal dominant 80 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:619274 updated DFNA80 OMIM:619274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angioma, familial OMIM:116860 cerebral cavernous malformations OMIM:116860 updated cavernous angioma, familial OMIM:116860 OMIM -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cavernous angiomatous malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 updated cavernous angiomatous malformations OMIM:116860 OMIM -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral capillary malformations OMIM:116860 cerebral cavernous malformations OMIM:116860 updated cerebral capillary malformations OMIM:116860 OMIM -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations OMIM:116860 cerebral cavernous malformations MONDO:Lexical, OMIM:116860 updated cerebral cavernous malformations OMIM:116860 OMIM -MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym CCM OMIM:116860 cerebral cavernous malformations http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:116860, MONDO:Lexical updated CCM OMIM:116860 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0031037 famililal cerebral cavernous malformations oio:hasExactSynonym oio:hasRelatedSynonym cerebral cavernous malformations cerebral cavernous malformations Cerebral cavernous malformations OMIMPS:116860 Cerebral cavernous malformations MONDO:Lexical, OMIM:116860 updated cerebral cavernous malformations OMIMPS:116860 OMIM -MONDO:0031213 restrictive dermopathy oio:hasExactSynonym oio:hasNarrowSynonym hyperkeratosis-contracture syndrome OMIM:275210 restrictive dermopathy 1 DOID:0060762 updated hyperkeratosis-contracture syndrome OMIM:275210 OMIM MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia Glanzmann thrombasthenia glanzmann thrombasthenia OMIM:273800 glanzmann thrombasthenia 1 DOID:2219, MONDO:Lexical, OMIM:273800 updated Glanzmann thrombasthenia OMIM:273800 OMIM MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym Platelet glycoprotein IIb-IIIa deficiency Platelet glycoprotein IIb-IIIa deficiency platelet glycoprotein iib-iiia deficiency OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 updated Platelet glycoprotein IIb-IIIa deficiency OMIM:273800 OMIM MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasRelatedSynonym bleeding disorder, Platelet-type, 2 bleeding disorder, Platelet-type, 2 bleeding disorder, platelet-type, 2 OMIM:273800 glanzmann thrombasthenia 1 OMIM:273800 updated bleeding disorder, Platelet-type, 2 OMIM:273800 OMIM -MONDO:0031332 Glanzmann thrombasthenia 1 oio:hasExactSynonym oio:hasBroadSynonym Glanzmann thrombasthenia OMIMPS:273800 Glanzmann thrombasthenia DOID:2219, MONDO:Lexical, OMIM:273800 updated Glanzmann thrombasthenia OMIMPS:273800 OMIM -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym microcephaly, epilepsy, and diabetes syndrome microcephaly, epilepsy, and diabetes syndrome Microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome OMIM:genemap2, OMIM:614231, MONDO:Lexical updated microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 OMIM MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym Mental Retardation, Autosomal Dominant 61 Mental Retardation, Autosomal Dominant 61 mental retardation, autosomal dominant 61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 OMIM:618009 updated Mental Retardation, Autosomal Dominant 61 OMIM:618009 OMIM MONDO:0032485 intellectual developmental disorder 61 oio:hasExactSynonym oio:hasRelatedSynonym MRD61 OMIM:618009 intellectual developmental disorder, autosomal dominant 61 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618009 updated MRD61 OMIM:618009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0032526 spinocerebellar ataxia 48 oio:hasExactSynonym oio:hasRelatedSynonym SPINOCEREBELLAR ATAXIA 48 SPINOCEREBELLAR ATAXIA 48 spinocerebellar ataxia 48 OMIM:618093 spinocerebellar ataxia 48 OMIM:618093 updated SPINOCEREBELLAR ATAXIA 48 OMIM:618093 OMIM @@ -89371,7 +86419,6 @@ MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0032764 Khan-Khan-Katsanis syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3KS OMIM:618460 khan-khan-katsanis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618460 updated 3KS OMIM:618460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BLEEDING DISORDER, PLATELET-TYPE, 22 BLEEDING DISORDER, PLATELET-TYPE, 22 bleeding disorder, platelet-type, 22 OMIM:618462 bleeding disorder, platelet-type, 22 OMIM:618462 updated BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM:618462 OMIM MONDO:0032765 bleeding disorder, platelet-type, 22 oio:hasExactSynonym oio:hasRelatedSynonym BDPLT22 OMIM:618462 bleeding disorder, platelet-type, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618462 updated BDPLT22 OMIM:618462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:604091 hypoalphalipoproteinemia, primary, 1 OMIM:618463 updated High Density Lipoprotein Deficiency OMIM:604091 OMIM MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym Apolipoprotein A-I Deficiency Apolipoprotein A-I Deficiency apolipoprotein a-i deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 updated Apolipoprotein A-I Deficiency OMIM:618463 OMIM MONDO:0032766 hypoalphalipoproteinemia, primary, 2 oio:hasExactSynonym oio:hasRelatedSynonym High Density Lipoprotein Deficiency High Density Lipoprotein Deficiency high density lipoprotein deficiency OMIM:618463 hypoalphalipoproteinemia, primary, 2 OMIM:618463 updated High Density Lipoprotein Deficiency OMIM:618463 OMIM MONDO:0032767 paragangliomas 6 oio:hasExactSynonym oio:hasRelatedSynonym PARAGANGLIOMAS 6 PARAGANGLIOMAS 6 paragangliomas 6 OMIM:618464 pheochromocytoma/paraganglioma syndrome 6 OMIM:618464 updated PARAGANGLIOMAS 6 OMIM:618464 OMIM @@ -89691,7 +86738,6 @@ MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSyno MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, autosomal recessive OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 updated polycystic kidney disease, autosomal recessive OMIM:263200 OMIM MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym polycystic kidney disease, infantile, type 1 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease OMIM:263200 updated polycystic kidney disease, infantile, type 1 OMIM:263200 OMIM MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD4 OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263200 updated PKD4 OMIM:263200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0033004 polycystic kidney disease 4 oio:hasExactSynonym oio:hasRelatedSynonym PKD3 OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:263200 updated PKD3 OMIM:600666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Galloway syndrome Galloway syndrome galloway syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 updated Galloway syndrome OMIM:251300 OMIM MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 updated microcephaly, hiatal hernia, and nephrotic syndrome OMIM:251300 OMIM MONDO:0033005 Galloway-Mowat syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym nephrosis-microcephaly syndrome OMIM:251300 galloway-mowat syndrome 1 OMIM:251300 updated nephrosis-microcephaly syndrome OMIM:251300 OMIM @@ -89709,7 +86755,6 @@ MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynony MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 updated erythrokeratodermia variabilis with erythema Gyratum Repens OMIM:133200 OMIM MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia, progressive symmetric OMIM:133200 erythrokeratodermia variabilis et progressiva 1 OMIM:133200 updated erythrokeratodermia, progressive symmetric OMIM:133200 OMIM MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym EKVP1 OMIM:133200 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:133200 updated EKVP1 OMIM:133200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis Et progressiva erythrokeratodermia variabilis Et progressiva Erythrokeratodermia variabilis et progressiva OMIMPS:133200 Erythrokeratodermia variabilis et progressiva OMIM:133200 updated erythrokeratodermia variabilis Et progressiva OMIMPS:133200 OMIM MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 OMIM:617524 updated erythrokeratodermia variabilis ET progressiva 2 OMIM:617524 OMIM MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 oio:hasExactSynonym oio:hasRelatedSynonym EKVP2 OMIM:617524 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617524 updated EKVP2 OMIM:617524 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 erythrokeratodermia variabilis et progressiva 3 OMIM:617525 updated erythrokeratodermia variabilis ET progressiva 3 OMIM:617525 OMIM @@ -89876,14 +86921,12 @@ MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym eosinophil peroxidase deficiency, partial OMIM:261500 eosinophil peroxidase deficiency GARD:0012361, MESH:C564893 updated eosinophil peroxidase deficiency, partial OMIM:261500 OMIM MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym presentey anomaly OMIM:261500 eosinophil peroxidase deficiency updated presentey anomaly OMIM:261500 OMIM MONDO:0043364 eosinophil peroxidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EPXD OMIM:261500 eosinophil peroxidase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:261500, GARD:0012361 updated EPXD OMIM:261500 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0044203 foveal hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym FVH OMIM:618549 hepatitis, fulminant viral, susceptibility to http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical updated FVH OMIM:618549 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Bodian syndrome Shwachman-Bodian syndrome shwachman-bodian syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated Shwachman-Bodian syndrome OMIM:260400 OMIM MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Shwachman-Diamond syndrome Shwachman-Diamond syndrome shwachman-diamond syndrome OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated Shwachman-Diamond syndrome OMIM:260400 OMIM MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym lipomatosis of pancreas, congenital OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated lipomatosis of pancreas, congenital OMIM:260400 OMIM MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym pancreatic insufficiency and bone marrow dysfunction OMIM:260400 shwachman-diamond syndrome 1 OMIM:260400 updated pancreatic insufficiency and bone marrow dysfunction OMIM:260400 OMIM MONDO:0044204 Shwachman-Diamond syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym SDS1 OMIM:260400 shwachman-diamond syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:260400 updated SDS1 OMIM:260400 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0044205 Shwachman-Diamond syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym SDS2 OMIM:617941 shwachman-diamond syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617941 updated SDS2 OMIM:617941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome Weissenbacher-Zweymuller syndrome weissenbacher-zweymuller syndrome OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:215150 updated Weissenbacher-Zweymuller syndrome OMIM:184840 OMIM MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Insley syndrome Nance-Insley syndrome nance-insley syndrome OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 updated Nance-Insley syndrome OMIM:215150 OMIM MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Nance-Sweeney chondrodysplasia Nance-Sweeney chondrodysplasia nance-sweeney chondrodysplasia OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 updated Nance-Sweeney chondrodysplasia OMIM:215150 OMIM MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Weissenbacher-Zweymuller syndrome, formerly Weissenbacher-Zweymuller syndrome, formerly weissenbacher-zweymuller syndrome, formerly OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM:215150 updated Weissenbacher-Zweymuller syndrome, formerly OMIM:215150 OMIM @@ -89893,7 +86936,6 @@ MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive oio:hasEx MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym lactoferrin-deficient neutrophils OMIM:245480 specific granule deficiency 1 OMIM:245480 updated lactoferrin-deficient neutrophils OMIM:245480 OMIM MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym neutrophil lactoferrin deficiency OMIM:245480 specific granule deficiency 1 OMIM:245480 updated neutrophil lactoferrin deficiency OMIM:245480 OMIM MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym SGD1 OMIM:245480 specific granule deficiency 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245480 updated SGD1 OMIM:245480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0044207 specific granule deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym specific granule deficiency specific granule deficiency Specific granule deficiency OMIMPS:245480 Specific granule deficiency OMIM:245480, OMIM:genemap2 updated specific granule deficiency OMIMPS:245480 OMIM MONDO:0044208 specific granule deficiency 2 oio:hasExactSynonym oio:hasRelatedSynonym SGD2 OMIM:617475 specific granule deficiency 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617475 updated SGD2 OMIM:617475 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym Prepl deficiency Prepl deficiency prepl deficiency OMIM:616224 myasthenic syndrome, congenital, 22 OMIM:616224 updated Prepl deficiency OMIM:616224 OMIM MONDO:0044299 myasthenic syndrome, congenital, 22 oio:hasExactSynonym oio:hasRelatedSynonym CMS22 OMIM:616224 myasthenic syndrome, congenital, 22 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616224 updated CMS22 OMIM:616224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -89978,7 +87020,6 @@ MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym sp MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, menger type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 updated spondylometaepiphyseal dysplasia, Menger type OMIM:607095 OMIM MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 anauxetic dysplasia 1 OMIM:607095 updated spondylometaepiphyseal dysplasia, anauxetic type OMIM:607095 OMIM MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym ANXD1 OMIM:607095 anauxetic dysplasia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607095 updated ANXD1 OMIM:607095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0054560 anauxetic dysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym anauxetic dysplasia anauxetic dysplasia Anauxetic dysplasia OMIMPS:607095 Anauxetic dysplasia OMIM:607095 updated anauxetic dysplasia OMIMPS:607095 OMIM MONDO:0054561 anauxetic dysplasia 2 oio:hasExactSynonym oio:hasRelatedSynonym ANXD2 OMIM:617396 anauxetic dysplasia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617396 updated ANXD2 OMIM:617396 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly OMIM:617405 updated short-rib thoracic dysplasia 17 with or without POLYDACTYLY OMIM:617405 OMIM MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly oio:hasExactSynonym oio:hasRelatedSynonym SRTD17 OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617405 updated SRTD17 OMIM:617405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -90044,7 +87085,6 @@ MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos with Other malformations cryptophthalmos with Other malformations cryptophthalmos with other malformations OMIM:219000 fraser syndrome 1 OMIM:219000 updated cryptophthalmos with Other malformations OMIM:219000 OMIM MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym cryptophthalmos-syndactyly syndrome OMIM:219000 fraser syndrome 1 OMIM:219000 updated cryptophthalmos-syndactyly syndrome OMIM:219000 OMIM MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS1 OMIM:219000 fraser syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219000 updated FRASRS1 OMIM:219000 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0054737 Fraser syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Fraser syndrome OMIMPS:219000 Fraser syndrome OMIM:219000 updated Fraser syndrome OMIMPS:219000 OMIM MONDO:0054738 Fraser syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS2 OMIM:617666 fraser syndrome 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617666 updated FRASRS2 OMIM:617666 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0054739 Fraser syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym FRASRS3 OMIM:617667 fraser syndrome 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617667 updated FRASRS3 OMIM:617667 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCD syndrome BCD syndrome bcd syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 updated BCD syndrome OMIM:119580 OMIM @@ -90054,7 +87094,6 @@ MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelated MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym ectropion, Inferior, with cleft 51P and/Or palate ectropion, Inferior, with cleft 51P and/Or palate ectropion, inferior, with cleft 51p and/or palate OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 updated ectropion, Inferior, with cleft 51P and/Or palate OMIM:119580 OMIM MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym elschnig syndrome OMIM:119580 blepharocheilodontic syndrome 1 OMIM:119580 updated elschnig syndrome OMIM:119580 OMIM MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym BCDS1 OMIM:119580 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:119580 updated BCDS1 OMIM:119580 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0054740 blepharocheilodontic syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym blepharocheilodontic syndrome blepharocheilodontic syndrome Blepharocheilodontic syndrome OMIMPS:119580 Blepharocheilodontic syndrome OMIM:119580 updated blepharocheilodontic syndrome OMIMPS:119580 OMIM MONDO:0054741 combined oxidative phosphorylation deficiency 34 oio:hasExactSynonym oio:hasRelatedSynonym COXPD34 OMIM:617872 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617872 updated COXPD34 OMIM:617872 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0054742 combined oxidative phosphorylation deficiency 35 oio:hasExactSynonym oio:hasRelatedSynonym COXPD35 OMIM:617873 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617873 updated COXPD35 OMIM:617873 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0054743 polycystic liver disease 3 with or without kidney cysts oio:hasExactSynonym oio:hasRelatedSynonym PCLD3 OMIM:617874 polycystic liver disease 3 with or without kidney cysts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617874 updated PCLD3 OMIM:617874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM @@ -90208,7 +87247,6 @@ MONDO:0060711 Jaberi-Elahi syndrome oio:hasExactSynonym oio:hasRelatedSynonym JA MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon oio:hasExactSynonym oio:hasRelatedSynonym DCHE OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617992 updated DCHE OMIM:617992 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 oio:hasExactSynonym oio:hasRelatedSynonym HFTC2 OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617993 updated HFTC2 OMIM:617993 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 oio:hasExactSynonym oio:hasRelatedSynonym HFTC3 OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617994 updated HFTC3 OMIM:617994 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM -MONDO:0060720 congenital disorder of glycosylation with defective fucosylation oio:hasExactSynonym oio:hasRelatedSynonym CDGF CDGF cdgf OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618005 updated CDGF OMIM:618005 OMIM MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 oio:hasExactSynonym oio:hasRelatedSynonym GPIBD17 OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618010 updated GPIBD17 OMIM:618010 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0060729 protoporphyria, erythropoietic, 2 oio:hasExactSynonym oio:hasRelatedSynonym EPP2 OMIM:618015 protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618015 updated EPP2 OMIM:618015 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0060732 tetraamelia syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 tetraamelia syndrome 2 OMIM:618021 updated tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 OMIM @@ -90235,7 +87273,6 @@ MONDO:0100083 hereditary thrombocytopenia and hematological cancer predispositio MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 platelet disorder, familial, with associated myeloid malignancy https://clinicalgenome.org/affiliation/50034/, OMIM:601399 updated thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 OMIM MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 oio:hasExactSynonym oio:hasRelatedSynonym FPDMM OMIM:601399 platelet disorder, familial, with associated myeloid malignancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, https://clinicalgenome.org/affiliation/50034/, OMIM:601399 updated FPDMM OMIM:601399 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0100093 myoclonus, familial, 1 oio:hasExactSynonym oio:hasBroadSynonym myoclonus, familial cortical OMIM:614937 myoclonus, familial, 1 OMIM:614937 updated myoclonus, familial cortical OMIM:614937 OMIM -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIMPS:606176 updated diabetes mellitus, permanent, of infancy OMIM:606176 OMIM MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent neonatal diabetes mellitus, permanent neonatal Diabetes mellitus, permanent neonatal OMIMPS:606176 Diabetes mellitus, permanent neonatal OMIMPS:606176, MONDO:Lexical updated diabetes mellitus, permanent neonatal OMIMPS:606176 OMIM MONDO:0100165 permanent neonatal diabetes mellitus 1 oio:hasExactSynonym oio:hasRelatedSynonym diabetes mellitus, permanent, of infancy OMIM:606176 diabetes mellitus, permanent neonatal, 1 OMIM:606176 updated diabetes mellitus, permanent, of infancy OMIM:606176 OMIM MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym oio:hasRelatedSynonym GTP cyclohydrolase 1 deficiency GTP cyclohydrolase 1 deficiency gtp cyclohydrolase 1 deficiency OMIM:233910 hyperphenylalaninemia, bh4-deficient, B OMIM:233910 updated GTP cyclohydrolase 1 deficiency OMIM:233910 OMIM @@ -90249,10 +87286,7 @@ MONDO:0100255 adenosine kinase deficiency oio:hasExactSynonym oio:hasRelatedSyno MONDO:0100288 enhanced S-cone syndrome oio:hasExactSynonym oio:hasRelatedSynonym ESCS OMIM:268100 enhanced s-cone syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:268100, MONDO:Lexical updated ESCS OMIM:268100 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate CoQ reductase deficiency succinate CoQ reductase deficiency succinate coq reductase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 OMIM:252011 updated succinate CoQ reductase deficiency OMIM:252011 OMIM MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 oio:hasExactSynonym oio:hasRelatedSynonym succinate dehydrogenase deficiency OMIM:252011 mitochondrial complex 2 deficiency, nuclear type 1 GARD:0005053 updated succinate dehydrogenase deficiency OMIM:252011 OMIM -MONDO:0100296 Olmsted syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Olmsted syndrome OMIMPS:614594 Olmsted syndrome Orphanet:659 updated Olmsted syndrome OMIMPS:614594 OMIM -MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 oio:hasExactSynonym oio:hasRelatedSynonym short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:617877 updated short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 OMIM MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 odontochondrodysplasia 1 OMIM:184260 updated spondylometaphyseal dysplasia with dentinogenesis imperfecta OMIM:184260 OMIM -MONDO:0100325 odontochondrodysplasia 1 oio:hasExactSynonym oio:hasBroadSynonym odontochondrodysplasia odontochondrodysplasia Odontochondrodysplasia OMIMPS:184260 Odontochondrodysplasia OMIM:184260 updated odontochondrodysplasia OMIMPS:184260 OMIM MONDO:0100340 Friedreich ataxia 1 oio:hasExactSynonym oio:hasBroadSynonym Friedreich ataxia Friedreich ataxia friedreich ataxia OMIM:229300 friedreich ataxia OMIM:229300, OMIM:genemap2 updated Friedreich ataxia OMIM:229300 OMIM MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym Bartter syndrome, type 1, antenatal Bartter syndrome, type 1, antenatal bartter syndrome, type 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 updated Bartter syndrome, type 1, antenatal OMIM:601678 OMIM MONDO:0100344 Bartter disease type 1 oio:hasExactSynonym oio:hasRelatedSynonym hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 bartter syndrome, type 1, antenatal OMIM:601678 updated hypokalemic alkalosis with hypercalciuria 1, antenatal OMIM:601678 OMIM @@ -90262,7 +87296,6 @@ MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelat MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal kinesigenic dyskinesia OMIM:128200 episodic kinesigenic dyskinesia 1 OMIM:128200 updated paroxysmal kinesigenic dyskinesia OMIM:128200 OMIM MONDO:0100352 episodic kinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym EKD1 OMIM:128200 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:128200, MONDO:Lexical updated EKD1 OMIM:128200 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0007960, OMIM:249210 updated megacystis-microcolon-intestinal hypoperistalsis syndrome OMIM:249210 OMIM -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960, OMIM:249210 updated megacystis-microcolon-intestinal hypoperistalsis syndrome OMIMPS:249210 OMIM MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Chondrodystrophic myotonia Chondrodystrophic myotonia chondrodystrophic myotonia OMIM:255800 schwartz-jampel syndrome, type 1 OMIM:255800 updated Chondrodystrophic myotonia OMIM:255800 OMIM MONDO:0100435 Schwartz-Jampel syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 1 Schwartz-Jampel syndrome, type 1 schwartz-jampel syndrome, type 1 OMIM:255800 schwartz-jampel syndrome, type 1 MONDO:Lexical, OMIM:255800 updated Schwartz-Jampel syndrome, type 1 OMIM:255800 OMIM MONDO:0100450 CAPN5-related vitreoretinopathy oio:hasExactSynonym oio:hasBroadSynonym proliferative vitreoretinopathy OMIM:193235 vitreoretinopathy, neovascular inflammatory https://clinicalgenome.org/affiliation/40072/, MONDO:0006928 updated proliferative vitreoretinopathy OMIM:193235 OMIM @@ -90272,7 +87305,6 @@ MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSy MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 oio:hasExactSynonym oio:hasRelatedSynonym athelia OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 MESH:C535565, OMIM:113700 updated athelia OMIM:113700 OMIM MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Humeroperoneal neuromuscular disease, formerly Humeroperoneal neuromuscular disease, formerly humeroperoneal neuromuscular disease, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 updated Humeroperoneal neuromuscular disease, formerly OMIM:310300 OMIM MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, X-linked, formerly scapuloperoneal syndrome, x-linked, formerly OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked OMIM:310300 updated scapuloperoneal syndrome, X-linked, formerly OMIM:310300 OMIM -MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome, classic-like, 1 Ehlers-Danlos syndrome, classic-like, 1 ehlers-danlos syndrome, classic-like, 1 OMIM:606408 ehlers-danlos syndrome, classic-like, 1 OMIM:310300, OMIM:genemap2 updated Ehlers-Danlos syndrome, classic-like, 1 OMIM:606408 OMIM MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, familial paroxysmal OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 updated choreoathetosis, familial paroxysmal OMIM:118800 OMIM MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym choreoathetosis, nonkinesigenic OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 updated choreoathetosis, nonkinesigenic OMIM:118800 OMIM MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym dystonia 8 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800 updated dystonia 8 OMIM:118800 OMIM @@ -90281,37 +87313,20 @@ MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:has MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 oio:hasExactSynonym oio:hasRelatedSynonym PNKD1 OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:118800 updated PNKD1 OMIM:118800 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Teebi hypertelorism syndrome teebi hypertelorism syndrome OMIM:145420 teebi hypertelorism syndrome 1 Orphanet:1519 updated Teebi hypertelorism syndrome OMIM:145420 OMIM MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym hypertelorism, Teebi type hypertelorism, Teebi type hypertelorism, teebi type OMIM:145420 teebi hypertelorism syndrome 1 OMIM:145420 updated hypertelorism, Teebi type OMIM:145420 OMIM -MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome OMIMPS:145420 Teebi hypertelorism syndrome Orphanet:1519 updated Teebi hypertelorism syndrome OMIMPS:145420 OMIM -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym central hypoventilation syndrome, congenital central hypoventilation syndrome, congenital Central hypoventilation syndrome, congenital OMIMPS:209880 Central hypoventilation syndrome, congenital MONDO:Lexical, OMIM:209880 updated central hypoventilation syndrome, congenital OMIMPS:209880 OMIM -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym leukoencephalopathy, hereditary diffuse, with spheroids leukoencephalopathy, hereditary diffuse, with spheroids Leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids OMIM:221820 updated leukoencephalopathy, hereditary diffuse, with spheroids OMIMPS:221820 OMIM MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym oio:hasRelatedSynonym pulmonary fibrosis, idiopathic OMIM:178500 interstitial lung disease 2 MONDO:Lexical, OMIM:178500 updated pulmonary fibrosis, idiopathic OMIM:178500 OMIM MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym intestinal atresia, multiple OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 OMIM:243150 updated intestinal atresia, multiple OMIM:243150 OMIM -MONDO:0800042 restrictive dermopathy 1 oio:hasExactSynonym oio:hasBroadSynonym restrictive dermopathy restrictive dermopathy Restrictive dermopathy OMIMPS:275210 Restrictive dermopathy Orphanet:1662 updated restrictive dermopathy OMIMPS:275210 OMIM -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS OMIM:185300 sturge-weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 updated SWS OMIM:185300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Schwartz-Jampel syndrome, type 2 Schwartz-Jampel syndrome, type 2 schwartz-jampel syndrome, type 2 OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 updated Schwartz-Jampel syndrome, type 2 OMIM:601559 OMIM MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome stuve-wiedemann/schwartz-jampel type 2 syndrome OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 updated Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome OMIM:601559 OMIM MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stws Stws stws OMIM:601559 stuve-wiedemann syndrome 1 OMIM:601559 updated Stws OMIM:601559 OMIM MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS SWS sws OMIM:601559 stuve-wiedemann syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 updated SWS OMIM:601559 OMIM -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STUVE-Wiedemann syndrome STUVE-Wiedemann syndrome Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome OMIM:601559 updated STUVE-Wiedemann syndrome OMIMPS:601559 OMIM -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stuve-Wiedemann syndrome OMIMPS:601559 Stuve-Wiedemann syndrome updated Stuve-Wiedemann syndrome OMIMPS:601559 OMIM MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273, DOID:0060728, MONDO:Lexical updated congenital disorder of deglycosylation OMIM:615273 OMIM MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type IV, formerly congenital disorder of glycosylation, type iv, formerly OMIM:615273 congenital disorder of deglycosylation 1 OMIM:615273 updated congenital disorder of glycosylation, type IV, formerly OMIM:615273 OMIM -MONDO:0800044 congenital disorder of deglycosylation 1 oio:hasExactSynonym oio:hasBroadSynonym congenital disorder of deglycosylation congenital disorder of deglycosylation Congenital disorder of deglycosylation OMIMPS:615273 Congenital disorder of deglycosylation OMIM:615273, DOID:0060728, MONDO:Lexical updated congenital disorder of deglycosylation OMIMPS:615273 OMIM -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 oio:hasExactSynonym oio:hasBroadSynonym autoinflammatory syndrome, familial, Behcet-like autoinflammatory syndrome, familial, Behcet-like Autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like OMIM:616744 updated autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 OMIM -MONDO:0800046 thyroid hormone metabolism, abnormal 1 oio:hasExactSynonym oio:hasBroadSynonym thyroid hormone metabolism, abnormal thyroid hormone metabolism, abnormal Thyroid hormone metabolism, abnormal OMIMPS:609698 Thyroid hormone metabolism, abnormal OMIM:609698 updated thyroid hormone metabolism, abnormal OMIMPS:609698 OMIM -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 updated SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 OMIM -MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:608971 immunodeficiency 104, severe combined OMIM:619924 updated severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971 OMIM MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 updated SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 OMIM MONDO:0800104 immunodeficiency 105 oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive OMIM:619924 immunodeficiency 105, severe combined OMIM:619924 updated severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:619924 OMIM MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym KNO KNO kno OMIM:267750 knobloch syndrome 1 OMIM:267750 updated KNO OMIM:267750 OMIM MONDO:0800167 Knobloch syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym retinal detachment and occipital encephalocele OMIM:267750 knobloch syndrome 1 OMIM:267750 updated retinal detachment and occipital encephalocele OMIM:267750 OMIM MONDO:0800437 Carey-Fineman-Ziter syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym CFZS CFZS cfzs OMIM:254940 carey-fineman-ziter syndrome 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003889, OMIM:254940 updated CFZS OMIM:254940 OMIM MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasRelatedSynonym Loucks-Innes syndrome Loucks-Innes syndrome loucks-innes syndrome OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM:616901 updated Loucks-Innes syndrome OMIM:616901 OMIM -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair developmental delay with short stature, dysmorphic facial features, and sparse hair Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair OMIM:genemap2, OMIM:616901 updated developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 OMIM -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym childhood ataxia with central nervous system hypomyelinization OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 updated childhood ataxia with central nervous system hypomyelinization OMIM:603896 OMIM -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing White matter leukodystrophy vanishing White matter leukodystrophy vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 OMIM:603896 updated vanishing White matter leukodystrophy OMIM:603896 OMIM -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym vanishing white matter leukodystrophy OMIM:603896 leukoencephalopathy with vanishing white matter 1 DOID:0060868 updated vanishing white matter leukodystrophy OMIM:603896 OMIM -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Cree leukoencephalopathy cree leukoencephalopathy OMIM:620315 leukoencephalopathy with vanishing white matter 5 DOID:0060868, GARD:0000231 updated Cree leukoencephalopathy OMIM:620315 OMIM MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter OMIMPS:603896 Leukoencephalopathy with vanishing white matter OMIM:603896 updated leukoencephalopathy with vanishing WHITE matter OMIMPS:603896 OMIM MONDO:0859366 hearing loss, autosomal dominant 85 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal dominant 85 OMIM:620227 deafness, autosomal dominant 85 OMIM:620227 updated deafness, autosomal dominant 85 OMIM:620227 OMIM MONDO:0859374 hearing loss, autosomal recessive 120 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 120 OMIM:620238 deafness, autosomal recessive 120 OMIM:620238 updated deafness, autosomal recessive 120 OMIM:620238 OMIM @@ -90321,16 +87336,11 @@ MONDO:0958232 hearing loss, autosomal dominant 90 oio:hasExactSynonym oio:hasNar MONDO:0958277 hearing loss, autosomal recessive 123 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 123 OMIM:620745 deafness, autosomal recessive 123 OMIM:620745 updated deafness, autosomal recessive 123 OMIM:620745 OMIM MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 124 OMIM:620794 deafness, autosomal recessive 124 OMIM:620794 updated deafness, autosomal recessive 124 OMIM:620794 OMIM MONDO:0971152 hearing loss, autosomal recessive 125 oio:hasExactSynonym oio:hasNarrowSynonym deafness, autosomal recessive 125 OMIM:620877 deafness, autosomal recessive 125 ORCID:0000-0002-4142-7153, OMIM:620877 updated deafness, autosomal recessive 125 OMIM:620877 OMIM -MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome OMIMPS:193670 WHIM syndrome OMIM:193670, MONDO:Lexical updated WHIM syndrome OMIMPS:193670 OMIM MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 OMIM:212720 updated MARTSOLF syndrome OMIM:212720 OMIM MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Martsolf syndrome martsolf syndrome OMIM:212720 martsolf syndrome 1 Orphanet:1387 updated Martsolf syndrome OMIM:212720 OMIM -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome OMIMPS:212720 Martsolf syndrome OMIM:212720 updated MARTSOLF syndrome OMIMPS:212720 OMIM -MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome OMIMPS:212720 Martsolf syndrome Orphanet:1387 updated Martsolf syndrome OMIMPS:212720 OMIM MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym Argyrophil myenteric plexus, deficiency of Argyrophil myenteric plexus, deficiency of argyrophil myenteric plexus, deficiency of OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 updated Argyrophil myenteric plexus, deficiency of OMIM:243180 OMIM MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction due to neuronal disease OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 updated intestinal pseudoobstruction due to neuronal disease OMIM:243180 OMIM MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive OMIM:243180 updated pseudoobstruction, chronic idiopathic intestinal, neuronal type OMIM:243180 OMIM -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 oio:hasExactSynonym oio:hasBroadSynonym neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:Lexical, OMIM:616263 updated neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIMPS:616263 OMIM -MONDO:8000013 portal hypertension, noncirrhotic, 1 oio:hasExactSynonym oio:hasBroadSynonym portal hypertension, noncirrhotic portal hypertension, noncirrhotic Portal hypertension, noncirrhotic OMIMPS:617068 Portal hypertension, noncirrhotic OMIM:617068 updated portal hypertension, noncirrhotic OMIMPS:617068 OMIM MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym anorchia, familial OMIM:273250 46,xy sex reversal 11 OMIM:273250 updated anorchia, familial OMIM:273250 OMIM MONDO:8000015 46,XY sex reversal 11 oio:hasExactSynonym oio:hasRelatedSynonym testicular regression, embryonic OMIM:273250 46,xy sex reversal 11 OMIM:273250 updated testicular regression, embryonic OMIM:273250 OMIM MONDO:0000044 hereditary hypophosphatemic rickets oio:hasExactSynonym Hypophosphatemic rickets Orphanet:437 Hypophosphatemic rickets added Hypophosphatemic rickets Orphanet:437 Orphanet @@ -97293,7 +94303,6 @@ MONDO:0000153 transposition of the great arteries oio:hasExactSynonym complete MONDO:0000153 transposition of the great arteries oio:hasExactSynonym transposition of the great vessels transposition of the great vessels Transposition of the great vessels Orphanet:216675 Transposition of the great arteries confirmed transposition of the great vessels Orphanet:216675 Orphanet MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGA Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TGA Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0000153 transposition of the great arteries oio:hasExactSynonym TGV Orphanet:216675 Transposition of the great arteries http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TGV Orphanet:216675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym MAC Orphanet:1456 Middle aortic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAC Orphanet:1456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym colobomatous microphthalmia colobomatous microphthalmia Colobomatous microphthalmia Orphanet:98938 Colobomatous microphthalmia confirmed colobomatous microphthalmia Orphanet:98938 Orphanet MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia with colobomatous cyst microphthalmia with colobomatous cyst Microphthalmia with colobomatous cyst Orphanet:98938 Colobomatous microphthalmia confirmed microphthalmia with colobomatous cyst Orphanet:98938 Orphanet MONDO:0000170 microphthalmia, isolated, with coloboma oio:hasExactSynonym microphthalmia-anophthalmia-coloboma syndrome microphthalmia-anophthalmia-coloboma syndrome Microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 Colobomatous microphthalmia confirmed microphthalmia-anophthalmia-coloboma syndrome Orphanet:98938 Orphanet @@ -97321,7 +94330,6 @@ MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym cerebra MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym creatine deficiency syndrome creatine deficiency syndrome Creatine deficiency syndrome Orphanet:79172 Creatine deficiency syndrome confirmed creatine deficiency syndrome Orphanet:79172 Orphanet MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CCDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CCDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0000456 cerebral creatine deficiency syndrome oio:hasExactSynonym CDS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Ochoa syndrome Orphanet:2704 Urofacial syndrome confirmed Ochoa syndrome Orphanet:2704 Orphanet MONDO:0000463 Ochoa syndrome oio:hasExactSynonym Urofacial Syndrome Urofacial Syndrome Urofacial syndrome Orphanet:2704 Urofacial syndrome confirmed Urofacial Syndrome Orphanet:2704 Orphanet MONDO:0000463 Ochoa syndrome oio:hasExactSynonym hydronephrosis-inverted smile syndrome hydronephrosis-inverted smile syndrome Hydronephrosis-inverted smile syndrome Orphanet:2704 Urofacial syndrome confirmed hydronephrosis-inverted smile syndrome Orphanet:2704 Orphanet @@ -97341,7 +94349,6 @@ MONDO:0000827 salmonellosis oio:hasExactSynonym rare form of salmonellosis rare MONDO:0000845 fibrous dysplasia oio:hasExactSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone confirmed fibrous dysplasia of bone Orphanet:249 Orphanet MONDO:0000859 spina bifida occulta oio:hasExactSynonym closed spinal dysraphism closed spinal dysraphism Closed spinal dysraphism Orphanet:645202 Closed spinal dysraphism confirmed closed spinal dysraphism Orphanet:645202 Orphanet MONDO:0000859 spina bifida occulta oio:hasExactSynonym spina bifida occulta spina bifida occulta Spina bifida occulta Orphanet:645202 Closed spinal dysraphism confirmed spina bifida occulta Orphanet:645202 Orphanet -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MSA Orphanet:102 Multiple system atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MSA Orphanet:102 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia confirmed mitochondrial myopathy and sideroblastic anemia Orphanet:2598 Orphanet MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym myopathy, lactic acidosis and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia Myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia confirmed myopathy, lactic acidosis and sideroblastic anemia Orphanet:2598 Orphanet MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia oio:hasExactSynonym MLASA Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MLASA Orphanet:2598 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -97376,7 +94383,6 @@ MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurilemoma acousti MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurinoma acoustic neurinoma Acoustic neurinoma Orphanet:252175 Vestibular schwannoma confirmed acoustic neurinoma Orphanet:252175 Orphanet MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic neuroma Orphanet:252175 Vestibular schwannoma confirmed acoustic neuroma Orphanet:252175 Orphanet MONDO:0001569 acoustic neuroma oio:hasExactSynonym vestibular schwannoma vestibular schwannoma Vestibular schwannoma Orphanet:252175 Vestibular schwannoma confirmed vestibular schwannoma Orphanet:252175 Orphanet -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Alpha-L-iduronidase deficiency Orphanet:579 Mucopolysaccharidosis type 1 confirmed Alpha-L-iduronidase deficiency Orphanet:579 Orphanet MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym Mucopolysaccharidosis Type I Mucopolysaccharidosis Type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 confirmed Mucopolysaccharidosis Type I Orphanet:579 Orphanet MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym mucopolysaccharidosis type I mucopolysaccharidosis type I Mucopolysaccharidosis type I Orphanet:579 Mucopolysaccharidosis type 1 confirmed mucopolysaccharidosis type I Orphanet:579 Orphanet @@ -97399,7 +94405,6 @@ MONDO:0001956 capillary leak syndrome oio:hasExactSynonym capillary leak syndro MONDO:0001956 capillary leak syndrome oio:hasExactSynonym idiopathic capillary leak syndrome idiopathic capillary leak syndrome Idiopathic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome confirmed idiopathic capillary leak syndrome Orphanet:188 Orphanet MONDO:0001956 capillary leak syndrome oio:hasExactSynonym systemic capillary leak syndrome systemic capillary leak syndrome Systemic capillary leak syndrome Orphanet:188 Systemic capillary leak syndrome confirmed systemic capillary leak syndrome Orphanet:188 Orphanet MONDO:0001956 capillary leak syndrome oio:hasExactSynonym SCLS Orphanet:188 Systemic capillary leak syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCLS Orphanet:188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0001956 capillary leak syndrome oio:hasExactSynonym CLS Orphanet:192 Coffin-Lowry syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CLS Orphanet:192 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0002013 lymphangioma oio:hasExactSynonym lymphangioma lymphangioma Lymphangioma Orphanet:2415 Rare lymphatic malformation confirmed lymphangioma Orphanet:2415 Orphanet MONDO:0002095 vascular cancer oio:hasExactSynonym malignant vascular tumor malignant vascular tumor Malignant vascular tumor Orphanet:673466 Malignant vascular tumor confirmed malignant vascular tumor Orphanet:673466 Orphanet MONDO:0002096 malignant conjunctival melanoma oio:hasExactSynonym conjunctival malignant melanoma conjunctival malignant melanoma Conjunctival malignant melanoma Orphanet:617910 Conjunctival malignant melanoma confirmed conjunctival malignant melanoma Orphanet:617910 Orphanet @@ -97632,7 +94637,6 @@ MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSy MONDO:0005223 acute myeloid leukemia with minimal differentiation oio:hasExactSynonym minimally differentiated acute myeloblastic leukemia minimally differentiated acute myeloblastic leukemia Minimally differentiated acute myeloblastic leukemia Orphanet:98832 Acute myeloid leukemia with minimal differentiation confirmed minimally differentiated acute myeloblastic leukemia Orphanet:98832 Orphanet MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym AML M1 Orphanet:98833 Acute myeloblastic leukemia without maturation confirmed AML M1 Orphanet:98833 Orphanet MONDO:0005224 acute myeloblastic leukemia without maturation oio:hasExactSynonym acute myeloblastic leukemia M1 acute myeloblastic leukemia M1 Acute myeloblastic leukemia M1 Orphanet:98833 Acute myeloblastic leukemia without maturation confirmed acute myeloblastic leukemia M1 Orphanet:98833 Orphanet -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym RA Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RA Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia oio:hasExactSynonym refractory anemia refractory anemia Refractory anemia Orphanet:98826 Myelodysplastic neoplasm with low blasts confirmed refractory anemia Orphanet:98826 Orphanet MONDO:0005308 ciliopathy oio:hasExactSynonym ciliopathy ciliopathy Ciliopathy Orphanet:363250 Ciliopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed ciliopathy Orphanet:363250 Orphanet MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym necrotizing enterocolitis necrotizing enterocolitis Necrotizing enterocolitis Orphanet:391673 Necrotizing enterocolitis confirmed necrotizing enterocolitis Orphanet:391673 Orphanet @@ -97951,7 +94955,6 @@ MONDO:0007098 ACys amyloidosis oio:hasExactSynonym HCHWA, Icelandic type Orph MONDO:0007098 ACys amyloidosis oio:hasExactSynonym cystatin amyloidosis cystatin amyloidosis Cystatin amyloidosis Orphanet:100008 ACys amyloidosis confirmed cystatin amyloidosis Orphanet:100008 Orphanet MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis, Icelandic type hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 ACys amyloidosis confirmed hereditary cerebral hemorrhage with amyloidosis, Icelandic type Orphanet:100008 Orphanet MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cystatin C amyloid angiopathy hereditary cystatin C amyloid angiopathy Hereditary cystatin C amyloid angiopathy Orphanet:100008 ACys amyloidosis confirmed hereditary cystatin C amyloid angiopathy Orphanet:100008 Orphanet -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 Cerebral Amyloid Angiopathy confirmed hereditary cerebral hemorrhage with amyloidosis Orphanet:85458 Orphanet MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym amyloidosis, Ostertag type amyloidosis, Ostertag type Amyloidosis, Ostertag type Orphanet:85450 Hereditary amyloidosis with primary renal involvement confirmed amyloidosis, Ostertag type Orphanet:85450 Orphanet MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial amyloid nephropathy familial amyloid nephropathy Familial amyloid nephropathy Orphanet:85450 Hereditary amyloidosis with primary renal involvement confirmed familial amyloid nephropathy Orphanet:85450 Orphanet MONDO:0007099 familial visceral amyloidosis oio:hasExactSynonym familial renal amyloidosis familial renal amyloidosis Familial renal amyloidosis Orphanet:85450 Hereditary amyloidosis with primary renal involvement confirmed familial renal amyloidosis Orphanet:85450 Orphanet @@ -98086,7 +95089,6 @@ MONDO:0007248 hereditary painful callosities oio:hasExactSynonym keratosis palm MONDO:0007249 camptobrachydactyly oio:hasExactSynonym camptobrachydactyly camptobrachydactyly Camptobrachydactyly Orphanet:1319 Camptobrachydactyly confirmed camptobrachydactyly Orphanet:1319 Orphanet MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dwarfism campomelic dwarfism Campomelic dwarfism Orphanet:140 Campomelic dysplasia confirmed campomelic dwarfism Orphanet:140 Orphanet MONDO:0007251 campomelic dysplasia oio:hasExactSynonym campomelic dysplasia campomelic dysplasia Campomelic dysplasia Orphanet:140 Campomelic dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed campomelic dysplasia Orphanet:140 Orphanet -MONDO:0007251 campomelic dysplasia oio:hasExactSynonym CMD Orphanet:97242 Congenital muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD Orphanet:97242 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007252 Gordon syndrome oio:hasExactSynonym Gordon syndrome Orphanet:376 Gordon syndrome confirmed Gordon syndrome Orphanet:376 Orphanet MONDO:0007252 Gordon syndrome oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome camptodactyly-cleft palate-clubfoot syndrome Camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 Gordon syndrome confirmed camptodactyly-cleft palate-clubfoot syndrome Orphanet:376 Orphanet MONDO:0007252 Gordon syndrome oio:hasExactSynonym distal arthrogryposis type 3 distal arthrogryposis type 3 Distal arthrogryposis type 3 Orphanet:376 Gordon syndrome confirmed distal arthrogryposis type 3 Orphanet:376 Orphanet @@ -98097,7 +95099,6 @@ MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym Cantu crani MONDO:0007259 craniofaciofrontodigital syndrome oio:hasExactSynonym craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome Orphanet:363705 Craniofaciofrontodigital syndrome confirmed craniofaciofrontodigital syndrome Orphanet:363705 Orphanet MONDO:0007269 dilated cardiomyopathy 1A oio:hasExactSynonym familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation confirmed familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet:300751 Orphanet MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:195 Cat-eye syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CES Orphanet:195 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007276 cat-eye syndrome oio:hasExactSynonym CES Orphanet:645749 Congenital esophageal stenosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CES Orphanet:645749 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome oio:hasExactSynonym Wellesley-Carman-French syndrome Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome confirmed Wellesley-Carman-French syndrome Orphanet:1373 Orphanet MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym leukocyte adhesion deficiency type I leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type I Orphanet:99842 Leukocyte adhesion deficiency type I confirmed leukocyte adhesion deficiency type I Orphanet:99842 Orphanet MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym LAD-I lad-I LAD-I Orphanet:99842 Leukocyte adhesion deficiency type I http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LAD-I Orphanet:99842 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -98173,7 +95174,6 @@ MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym Beals-Hecht syndrome Orphanet:115 Congenital contractural arachnodactyly confirmed Beals-Hecht syndrome Orphanet:115 Orphanet MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA syndrome Orphanet:115 Congenital contractural arachnodactyly confirmed CCA syndrome Orphanet:115 Orphanet MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym distal arthrogryposis type 9 distal arthrogryposis type 9 Distal arthrogryposis type 9 Orphanet:115 Congenital contractural arachnodactyly confirmed distal arthrogryposis type 9 Orphanet:115 Orphanet -MONDO:0007363 congenital contractural arachnodactyly oio:hasExactSynonym CCA Orphanet:70567 Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CCA Orphanet:70567 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym hereditary coproporphyria hereditary coproporphyria Hereditary coproporphyria Orphanet:79273 Hereditary coproporphyria confirmed hereditary coproporphyria Orphanet:79273 Orphanet MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy confirmed Schnyder corneal dystrophy Orphanet:98967 Orphanet MONDO:0007374 Schnyder corneal dystrophy oio:hasExactSynonym Schnyder crystalline corneal dystrophy Orphanet:98967 Schnyder corneal dystrophy confirmed Schnyder crystalline corneal dystrophy Orphanet:98967 Orphanet @@ -98275,7 +95275,6 @@ MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym DI-2 Orpha MONDO:0007442 dentinogenesis imperfecta type 3 oio:hasExactSynonym dentinogenesis imperfecta, Shields type 3 dentinogenesis imperfecta, Shields type 3 Dentinogenesis imperfecta, Shields type 3 Orphanet:166265 Dentinogenesis imperfecta type 3 confirmed dentinogenesis imperfecta, Shields type 3 Orphanet:166265 Orphanet MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym isolated asymmetric crying facies isolated asymmetric crying facies Isolated asymmetric crying facies Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris confirmed isolated asymmetric crying facies Orphanet:1166 Orphanet MONDO:0007445 dermatopathia pigmentosa reticularis oio:hasExactSynonym dermatopathia pigmentosa reticularis dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis Orphanet:86920 Dermatopathia pigmentosa reticularis confirmed dermatopathia pigmentosa reticularis Orphanet:86920 Orphanet -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym Arginine vasopressin deficiency Orphanet:178029 Arginine vasopressin deficiency confirmed Arginine vasopressin deficiency Orphanet:178029 Orphanet MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary CDI hereditary CDI Hereditary CDI Orphanet:30925 Hereditary arginine vasopressin deficiency confirmed hereditary CDI Orphanet:30925 Orphanet MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym hereditary neurogenic diabetes insipidus hereditary neurogenic diabetes insipidus Hereditary neurogenic diabetes insipidus Orphanet:30925 Hereditary arginine vasopressin deficiency confirmed hereditary neurogenic diabetes insipidus Orphanet:30925 Orphanet MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome oio:hasExactSynonym familial doughnut lesions of skull familial doughnut lesions of skull Familial doughnut lesions of skull Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome confirmed familial doughnut lesions of skull Orphanet:85192 Orphanet @@ -98618,8 +95617,8 @@ MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-ano MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-anosmia-deafness-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Johnson neuroectodermal syndrome confirmed alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Del(11)(q23.3) del(11)(q23.3) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(q23.3) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(q23.3) Orphanet:2308 Orphanet -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(qter) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Del(11)(qter) del(11)(qter) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(qter) Orphanet:2308 Orphanet +MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(qter) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Orphanet:2308 Jacobsen syndrome confirmed Jacobsen syndrome Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal deletion 11q distal deletion 11q Distal deletion 11q Orphanet:2308 Jacobsen syndrome confirmed distal deletion 11q Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym distal monosomy 11q distal monosomy 11q Distal monosomy 11q Orphanet:2308 Jacobsen syndrome confirmed distal monosomy 11q Orphanet:2308 Orphanet @@ -98742,7 +95741,6 @@ MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym polymorphic v MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym vitelliform macular dystrophy type 2 vitelliform macular dystrophy type 2 Vitelliform macular dystrophy type 2 Orphanet:1243 Best vitelliform macular dystrophy confirmed vitelliform macular dystrophy type 2 Orphanet:1243 Orphanet MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BVMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BVMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007931 vitelliform macular dystrophy 2 oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007935 cystoid macular edema oio:hasExactSynonym autosomal dominant cystoid macular edema autosomal dominant cystoid macular edema Autosomal dominant cystoid macular edema Orphanet:75381 Cystoid macular dystrophy confirmed autosomal dominant cystoid macular edema Orphanet:75381 Orphanet MONDO:0007935 cystoid macular edema oio:hasExactSynonym familial macular edema familial macular edema Familial macular edema Orphanet:75381 Cystoid macular dystrophy confirmed familial macular edema Orphanet:75381 Orphanet MONDO:0007935 cystoid macular edema oio:hasExactSynonym DCMD Orphanet:75381 Cystoid macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DCMD Orphanet:75381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -98836,7 +95834,6 @@ MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transie MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative disease transient myeloproliferative disease Transient myeloproliferative disease Orphanet:420611 Transient myeloproliferative syndrome confirmed transient myeloproliferative disease Orphanet:420611 Orphanet MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym transient myeloproliferative syndrome transient myeloproliferative syndrome Transient myeloproliferative syndrome Orphanet:420611 Transient myeloproliferative syndrome confirmed transient myeloproliferative syndrome Orphanet:420611 Orphanet MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008040 transient myeloproliferative syndrome oio:hasExactSynonym TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym Jankovic-Rivera syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome confirmed Jankovic-Rivera syndrome Orphanet:2590 Orphanet MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome oio:hasExactSynonym hereditary myoclonus-progressive distal muscular atrophy syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome confirmed hereditary myoclonus-progressive distal muscular atrophy syndrome Orphanet:2590 Orphanet MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym episodic ataxia with myokymia episodic ataxia with myokymia Episodic ataxia with myokymia Orphanet:37612 Episodic ataxia type 1 confirmed episodic ataxia with myokymia Orphanet:37612 Orphanet @@ -98849,7 +95846,6 @@ MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym MPD1 Orphane MONDO:0008051 tubular aggregate myopathy oio:hasExactSynonym tubular aggregate myopathy tubular aggregate myopathy Tubular aggregate myopathy Orphanet:2593 Tubular aggregate myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed tubular aggregate myopathy Orphanet:2593 Orphanet MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile DM juvenile DM Juvenile DM Orphanet:93672 Juvenile dermatomyositis confirmed juvenile DM Orphanet:93672 Orphanet MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis Orphanet:93672 Juvenile dermatomyositis confirmed juvenile dermatomyositis Orphanet:93672 Orphanet -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy Orphanet:206647 Myotonic dystrophy confirmed Myotonic Dystrophy Orphanet:206647 Orphanet MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease Orphanet:273 Steinert myotonic dystrophy confirmed Steinert disease Orphanet:273 Orphanet MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym myotonic dystrophy type 1 myotonic dystrophy type 1 Myotonic dystrophy type 1 Orphanet:273 Steinert myotonic dystrophy confirmed myotonic dystrophy type 1 Orphanet:273 Orphanet MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym NFJ syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome confirmed NFJ syndrome Orphanet:69087 Orphanet @@ -99173,14 +96169,12 @@ MONDO:0008421 flat face-microstomia-ear anomaly syndrome oio:hasExactSynonym bl MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Marfanoid craniosynostosis syndrome Orphanet:2462 Shprintzen-Goldberg syndrome confirmed Marfanoid craniosynostosis syndrome Orphanet:2462 Orphanet MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym Shprintzen-Goldberg syndrome Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Shprintzen-Goldberg syndrome Orphanet:2462 Orphanet MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008426 Shprintzen-Goldberg syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008428 septooptic dysplasia oio:hasExactSynonym De Morsier syndrome Orphanet:3157 Septo-optic dysplasia spectrum confirmed De Morsier syndrome Orphanet:3157 Orphanet MONDO:0008428 septooptic dysplasia oio:hasExactSynonym septo-optic dysplasia septo-optic dysplasia Septo-optic dysplasia Orphanet:3157 Septo-optic dysplasia spectrum confirmed septo-optic dysplasia Orphanet:3157 Orphanet MONDO:0008428 septooptic dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008429 Singleton-Merten dysplasia oio:hasExactSynonym Singleton-Merten syndrome Orphanet:85191 Singleton-Merten dysplasia confirmed Singleton-Merten syndrome Orphanet:85191 Orphanet MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym Small cell lung cancer Orphanet:70573 Small cell lung cancer confirmed Small cell lung cancer Orphanet:70573 Orphanet MONDO:0008433 small cell lung carcinoma oio:hasExactSynonym small cell lung cancer small cell lung cancer Small cell lung cancer Orphanet:70573 Small cell lung cancer confirmed small cell lung cancer Orphanet:70573 Orphanet -MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym 17p11.2 microdeletion syndrome Orphanet:819 Smith-Magenis syndrome confirmed 17p11.2 microdeletion syndrome Orphanet:819 Orphanet MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym SMITH-Magenis syndrome SMITH-Magenis syndrome Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome confirmed SMITH-Magenis syndrome Orphanet:819 Orphanet MONDO:0008434 Smith-Magenis syndrome oio:hasExactSynonym Smith-Magenis syndrome Orphanet:819 Smith-Magenis syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Smith-Magenis syndrome Orphanet:819 Orphanet @@ -99248,7 +96242,6 @@ MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym Sturge-Weber-Krabbe syn MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalofacial angiomatosis encephalofacial angiomatosis Encephalofacial angiomatosis Orphanet:3205 Sturge-Weber syndrome confirmed encephalofacial angiomatosis Orphanet:3205 Orphanet MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym encephalotrigeminal angiomatosis encephalotrigeminal angiomatosis Encephalotrigeminal angiomatosis Orphanet:3205 Sturge-Weber syndrome confirmed encephalotrigeminal angiomatosis Orphanet:3205 Orphanet MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008501 Sturge-Weber syndrome oio:hasExactSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym Worster-Drought syndrome Orphanet:3465 Worster-Drought syndrome confirmed Worster-Drought syndrome Orphanet:3465 Orphanet MONDO:0008503 Worster-Drought syndrome oio:hasExactSynonym congenital suprabulbar paresis congenital suprabulbar paresis Congenital suprabulbar paresis Orphanet:3465 Worster-Drought syndrome confirmed congenital suprabulbar paresis Orphanet:3465 Orphanet MONDO:0008504 supravalvular aortic stenosis oio:hasExactSynonym supravalvular aortic stenosis supravalvular aortic stenosis Supravalvular aortic stenosis Orphanet:3193 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed supravalvular aortic stenosis Orphanet:3193 Orphanet @@ -99373,8 +96366,8 @@ MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams syndrome Orphane MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome Orphanet:904 Williams syndrome confirmed Williams-Beuren syndrome Orphanet:904 Orphanet MONDO:0008678 Williams syndrome oio:hasExactSynonym deletion 7q11.23 deletion 7q11.23 Deletion 7q11.23 Orphanet:904 Williams syndrome confirmed deletion 7q11.23 Orphanet:904 Orphanet MONDO:0008678 Williams syndrome oio:hasExactSynonym monosomy 7q11.23 monosomy 7q11.23 Monosomy 7q11.23 Orphanet:904 Williams syndrome confirmed monosomy 7q11.23 Orphanet:904 Orphanet -MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet +MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome Orphanet:893 WAGR syndrome confirmed WAGR syndrome Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 WAGR syndrome confirmed Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym deletion 11p13 deletion 11p13 Deletion 11p13 Orphanet:893 WAGR syndrome confirmed deletion 11p13 Orphanet:893 Orphanet @@ -99415,7 +96408,6 @@ MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficienc MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short limb skeletal dysplasia with SCID short limb skeletal dysplasia with SCID Short limb skeletal dysplasia with SCID Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency confirmed short limb skeletal dysplasia with SCID Orphanet:935 Orphanet MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency oio:hasExactSynonym short-limb skeletal dysplasia with severe combined immunodeficiency short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency confirmed short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 Orphanet MONDO:0008705 lysosomal acid phosphatase deficiency oio:hasExactSynonym lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency Lysosomal acid phosphatase deficiency Orphanet:35121 Lysosomal acid phosphatase deficiency confirmed lysosomal acid phosphatase deficiency Orphanet:35121 Orphanet -MONDO:0008706 Ackerman syndrome oio:hasExactSynonym Ackerman syndrome Orphanet:79099 Interstitial granulomatous dermatitis with arthritis confirmed Ackerman syndrome Orphanet:79099 Orphanet MONDO:0008707 acro-renal-mandibular syndrome oio:hasExactSynonym split hand/split foot-mandibular hypoplasia syndrome split hand/split foot-mandibular hypoplasia syndrome Split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 Acro-renal-mandibular syndrome confirmed split hand/split foot-mandibular hypoplasia syndrome Orphanet:958 Orphanet MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym acrocallosal syndrome acrocallosal syndrome Acrocallosal syndrome Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed acrocallosal syndrome Orphanet:36 Orphanet MONDO:0008708 acrocallosal syndrome oio:hasExactSynonym ACS Orphanet:36 Acrocallosal syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACS Orphanet:36 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -99548,7 +96540,6 @@ MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood oio:hasExact MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym CACP syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome confirmed CACP syndrome Orphanet:2848 Orphanet MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym arthropathy-camptodactyly syndrome arthropathy-camptodactyly syndrome Arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome confirmed arthropathy-camptodactyly syndrome Orphanet:2848 Orphanet MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym pericarditis-arthropathy-camptodactyly syndrome pericarditis-arthropathy-camptodactyly syndrome Pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome confirmed pericarditis-arthropathy-camptodactyly syndrome Orphanet:2848 Orphanet -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym Jacobs syndrome Orphanet:8 47,XYY syndrome confirmed Jacobs syndrome Orphanet:8 Orphanet MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminidase deficiency aspartylglucosaminidase deficiency Aspartylglucosaminidase deficiency Orphanet:93 Aspartylglucosaminuria confirmed aspartylglucosaminidase deficiency Orphanet:93 Orphanet MONDO:0008830 aspartylglucosaminuria oio:hasExactSynonym aspartylglucosaminuria aspartylglucosaminuria Aspartylglucosaminuria Orphanet:93 Aspartylglucosaminuria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed aspartylglucosaminuria Orphanet:93 Orphanet MONDO:0008832 right atrial isomerism oio:hasExactSynonym Ivemark Syndrome Ivemark Syndrome Ivemark syndrome Orphanet:97548 Right sided atrial isomerism confirmed Ivemark Syndrome Orphanet:97548 Orphanet @@ -99750,7 +96741,6 @@ MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExact MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym infantile hereditary endothelial dystrophy infantile hereditary endothelial dystrophy Infantile hereditary endothelial dystrophy Orphanet:293603 Congenital hereditary endothelial dystrophy type II confirmed infantile hereditary endothelial dystrophy Orphanet:293603 Orphanet MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHED2 Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHED2 Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym CHEDII Orphanet:293603 Congenital hereditary endothelial dystrophy type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHEDII Orphanet:293603 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym Fehr corneal dystrophy Orphanet:98969 Macular corneal dystrophy confirmed Fehr corneal dystrophy Orphanet:98969 Orphanet MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym corneal dystrophy Groenouw type II corneal dystrophy Groenouw type II Corneal dystrophy Groenouw type II Orphanet:98969 Macular corneal dystrophy confirmed corneal dystrophy Groenouw type II Orphanet:98969 Orphanet MONDO:0009020 macular corneal dystrophy oio:hasExactSynonym macular corneal dystrophy macular corneal dystrophy Macular corneal dystrophy Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed macular corneal dystrophy Orphanet:98969 Orphanet @@ -99928,7 +96918,6 @@ MONDO:0009168 Fowler syndrome oio:hasExactSynonym Encephaloclastic proliferativ MONDO:0009168 Fowler syndrome oio:hasExactSynonym cerebral proliferative glomeruloid vasculopathy cerebral proliferative glomeruloid vasculopathy Cerebral proliferative glomeruloid vasculopathy Orphanet:221126 Fowler vasculopathy confirmed cerebral proliferative glomeruloid vasculopathy Orphanet:221126 Orphanet MONDO:0009168 Fowler syndrome oio:hasExactSynonym hydrocephaly/hydranencephaly due to cerebral vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 Fowler vasculopathy confirmed hydrocephaly/hydranencephaly due to cerebral vasculopathy Orphanet:221126 Orphanet MONDO:0009168 Fowler syndrome oio:hasExactSynonym proliferative vasculopathy and hydranencephaly/hydrocephaly proliferative vasculopathy and hydranencephaly/hydrocephaly Proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 Fowler vasculopathy confirmed proliferative vasculopathy and hydranencephaly/hydrocephaly Orphanet:221126 Orphanet -MONDO:0009168 Fowler syndrome oio:hasExactSynonym Fowler syndrome Orphanet:2795 Fowler urethral sphincter dysfunction syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Fowler syndrome Orphanet:2795 Orphanet MONDO:0009169 endocardial fibroelastosis oio:hasExactSynonym endocardial fibroelastosis endocardial fibroelastosis Endocardial fibroelastosis Orphanet:2022 Endocardial fibroelastosis confirmed endocardial fibroelastosis Orphanet:2022 Orphanet MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency oio:hasExactSynonym congenital enterokinase deficiency congenital enterokinase deficiency Congenital enterokinase deficiency Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency confirmed congenital enterokinase deficiency Orphanet:168601 Orphanet MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Shulman syndrome Orphanet:3165 Eosinophilic fasciitis confirmed Shulman syndrome Orphanet:3165 Orphanet @@ -100002,7 +96991,6 @@ MONDO:0009218 Farber lipogranulomatosis oio:hasExactSynonym acid ceramidase def MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym FFU complex Orphanet:2019 Femur-fibula-ulna complex confirmed FFU complex Orphanet:2019 Orphanet MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna dysostosis femur-fibula-ulna dysostosis Femur-fibula-ulna dysostosis Orphanet:2019 Femur-fibula-ulna complex confirmed femur-fibula-ulna dysostosis Orphanet:2019 Orphanet MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym femur-fibula-ulna syndrome femur-fibula-ulna syndrome Femur-fibula-ulna syndrome Orphanet:2019 Femur-fibula-ulna complex confirmed femur-fibula-ulna syndrome Orphanet:2019 Orphanet -MONDO:0009221 femur-fibula-ulna complex oio:hasExactSynonym PFFD Orphanet:633228 Isolated proximal femoral focal deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PFFD Orphanet:633228 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym Gollop-Wolfgang complex Orphanet:1986 Gollop-Wolfgang complex confirmed Gollop-Wolfgang complex Orphanet:1986 Orphanet MONDO:0009222 Gollop-Wolfgang complex oio:hasExactSynonym bifid femur-monodactylous ectrodactyly syndrome bifid femur-monodactylous ectrodactyly syndrome Bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 Gollop-Wolfgang complex confirmed bifid femur-monodactylous ectrodactyly syndrome Orphanet:1986 Orphanet MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia oio:hasExactSynonym 46,XY DSD due to LHB deficiency Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency confirmed 46,XY DSD due to LHB deficiency Orphanet:325448 Orphanet @@ -100066,7 +97054,6 @@ MONDO:0009263 GAPO syndrome oio:hasExactSynonym Growth delay-alopecia-pseudoano MONDO:0009263 GAPO syndrome oio:hasExactSynonym gapo syndrome gapo syndrome GAPO syndrome Orphanet:2067 GAPO syndrome confirmed gapo syndrome Orphanet:2067 Orphanet MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis Gastroschisis Orphanet:2368 Gastroschisis confirmed gastroschisis Orphanet:2368 Orphanet MONDO:0009264 gastroschisis oio:hasExactSynonym laparoschisis laparoschisis Laparoschisis Orphanet:2368 Gastroschisis confirmed laparoschisis Orphanet:2368 Orphanet -MONDO:0009265 Gaucher disease type I oio:hasExactSynonym acid Beta-glucosidase deficiency acid Beta-glucosidase deficiency Acid beta-glucosidase deficiency Orphanet:355 Gaucher disease confirmed acid Beta-glucosidase deficiency Orphanet:355 Orphanet MONDO:0009265 Gaucher disease type I oio:hasExactSynonym non-cerebral juvenile Gaucher disease non-cerebral juvenile Gaucher disease Non-cerebral juvenile Gaucher disease Orphanet:77259 Gaucher disease type 1 confirmed non-cerebral juvenile Gaucher disease Orphanet:77259 Orphanet MONDO:0009266 Gaucher disease type II oio:hasExactSynonym acute neuronopathic Gaucher disease acute neuronopathic Gaucher disease Acute neuronopathic Gaucher disease Orphanet:77260 Gaucher disease type 2 confirmed acute neuronopathic Gaucher disease Orphanet:77260 Orphanet MONDO:0009266 Gaucher disease type II oio:hasExactSynonym infantile cerebral Gaucher disease infantile cerebral Gaucher disease Infantile cerebral Gaucher disease Orphanet:77260 Gaucher disease type 2 confirmed infantile cerebral Gaucher disease Orphanet:77260 Orphanet @@ -100428,10 +97415,8 @@ MONDO:0009483 Kapur-Toriello syndrome oio:hasExactSynonym kapur-Toriello syndro MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oculocerebrofacial syndrome, Kaufman type oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial syndrome, Kaufman type Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed oculocerebrofacial syndrome, Kaufman type Orphanet:2707 Orphanet MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym PPK, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type confirmed PPK, Gamborg-Nielsen type Orphanet:86923 Orphanet MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type oio:hasExactSynonym hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type confirmed hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923 Orphanet -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym keratosis palmoplantar-periodontopathy syndrome keratosis palmoplantar-periodontopathy syndrome Keratosis palmoplantar-periodontopathy syndrome Orphanet:678 Papillon-Lefèvre syndrome confirmed keratosis palmoplantar-periodontopathy syndrome Orphanet:678 Orphanet MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome confirmed Haim-Munk syndrome Orphanet:2342 Orphanet MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym keratosis palmoplantaris-periodontopathia-onychogryposis syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome confirmed keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Orphanet:2342 Orphanet MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 Haim-Munk syndrome confirmed palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome Orphanet:2342 Orphanet @@ -100478,7 +97463,6 @@ MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym laryngo-ony MONDO:0009513 laryngo-onycho-cutaneous syndrome oio:hasExactSynonym logic syndrome logic syndrome LOGIC syndrome Orphanet:2407 Laryngo-onycho-cutaneous syndrome confirmed logic syndrome Orphanet:2407 Orphanet MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome confirmed Laurence-Moon syndrome Orphanet:2377 Orphanet MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009515 Norum disease oio:hasExactSynonym Norum disease Orphanet:79293 Familial LCAT deficiency confirmed Norum disease Orphanet:79293 Orphanet MONDO:0009515 Norum disease oio:hasExactSynonym complete LCAT deficiency complete LCAT deficiency Complete LCAT deficiency Orphanet:79293 Familial LCAT deficiency confirmed complete LCAT deficiency Orphanet:79293 Orphanet MONDO:0009515 Norum disease oio:hasExactSynonym FLD Orphanet:79293 Familial LCAT deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FLD Orphanet:79293 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -101069,7 +98053,6 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome oio:hasExactSynonym MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym autosomal recessive popliteal pterygium syndrome autosomal recessive popliteal pterygium syndrome Autosomal recessive popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome confirmed autosomal recessive popliteal pterygium syndrome Orphanet:1234 Orphanet MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym lethal popliteal pterygium syndrome lethal popliteal pterygium syndrome Lethal popliteal pterygium syndrome Orphanet:1234 Bartsocas-Papas syndrome confirmed lethal popliteal pterygium syndrome Orphanet:1234 Orphanet MONDO:0009901 Bartsocas-Papas syndrome 1 oio:hasExactSynonym Bartsocas-Papas syndrome Orphanet:1234 Bartsocas-Papas syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bartsocas-Papas syndrome Orphanet:1234 Orphanet -MONDO:0009902 cutaneous porphyria oio:hasExactSynonym erythropoietic porphyria erythropoietic porphyria Erythropoietic porphyria Orphanet:659681 Erythropoietic porphyria confirmed erythropoietic porphyria Orphanet:659681 Orphanet MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria Congenital erythropoietic porphyria Orphanet:79277 Congenital erythropoietic porphyria confirmed Congenital Erythropoietic Porphyria Orphanet:79277 Orphanet MONDO:0009902 cutaneous porphyria oio:hasExactSynonym Günther disease Orphanet:79277 Congenital erythropoietic porphyria confirmed Günther disease Orphanet:79277 Orphanet MONDO:0009902 cutaneous porphyria oio:hasExactSynonym CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -101129,7 +98112,6 @@ MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia Congenital alveolar capillary dysplasia Orphanet:210122 Congenital alveolar capillary dysplasia confirmed congenital alveolar capillary dysplasia Orphanet:210122 Orphanet MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 Orphanet MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins oio:hasExactSynonym ACDMPV Orphanet:210122 Congenital alveolar capillary dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACDMPV Orphanet:210122 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009937 pulmonary venoocclusive disease oio:hasExactSynonym pulmonary capillary hemangiomatosis pulmonary capillary hemangiomatosis Pulmonary capillary hemangiomatosis Orphanet:199241 Pulmonary capillary hemangiomatosis confirmed pulmonary capillary hemangiomatosis Orphanet:199241 Orphanet MONDO:0009940 pycnodysostosis oio:hasExactSynonym Pyknodysostosis Orphanet:763 Pycnodysostosis confirmed Pyknodysostosis Orphanet:763 Orphanet MONDO:0009940 pycnodysostosis oio:hasExactSynonym pycnodysostosis pycnodysostosis Pycnodysostosis Orphanet:763 Pycnodysostosis confirmed pycnodysostosis Orphanet:763 Orphanet MONDO:0009942 pyknoachondrogenesis oio:hasExactSynonym camera syndrome camera syndrome Camera syndrome Orphanet:3003 Pyknoachondrogenesis confirmed camera syndrome Orphanet:3003 Orphanet @@ -101216,7 +98198,6 @@ MONDO:0010005 saccharopinuria oio:hasExactSynonym saccharopinuria saccharopinur MONDO:0010006 Sandhoff disease oio:hasExactSynonym Sandhoff disease Orphanet:796 Sandhoff disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Sandhoff disease Orphanet:796 Orphanet MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome oio:hasExactSynonym Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome confirmed Richieri Costa-Guion Almeida-Ramos syndrome Orphanet:2511 Orphanet MONDO:0010008 sarcosinemia oio:hasExactSynonym sarcosinemia sarcosinemia Sarcosinemia Orphanet:3129 Sarcosinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed sarcosinemia Orphanet:3129 Orphanet -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym Schinzel-Giedion syndrome Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Schinzel-Giedion syndrome Orphanet:798 Orphanet MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010011 schizencephaly oio:hasExactSynonym schizencephaly schizencephaly Schizencephaly Orphanet:799 Schizencephaly http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed schizencephaly Orphanet:799 Orphanet @@ -101334,7 +98315,6 @@ MONDO:0010101 Teebi-Shaltout syndrome oio:hasExactSynonym Teebi-Shaltout syndro MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oio:hasExactSynonym Stoelinga-de Koomen-Davis syndrome Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome confirmed Stoelinga-de Koomen-Davis syndrome Orphanet:2972 Orphanet MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym germ cell tumor of testis germ cell tumor of testis Germ cell tumor of testis Orphanet:363504 Germ cell tumor of testis confirmed germ cell tumor of testis Orphanet:363504 Orphanet MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym testicular germ cell tumor testicular germ cell tumor Testicular germ cell tumor Orphanet:363504 Germ cell tumor of testis confirmed testicular germ cell tumor Orphanet:363504 Orphanet -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym TGCT Orphanet:66627 Tenosynovial giant cell tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TGCT Orphanet:66627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010110 tetraamelia-multiple malformations syndrome oio:hasExactSynonym Zimmer phocomelia Orphanet:3301 Tetraamelia-multiple malformations syndrome confirmed Zimmer phocomelia Orphanet:3301 Orphanet MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym Freire-Maia syndrome Orphanet:2723 Odontotrichomelic syndrome confirmed Freire-Maia syndrome Orphanet:2723 Orphanet MONDO:0010111 odontotrichomelic syndrome oio:hasExactSynonym odontotrichomelic syndrome odontotrichomelic syndrome Odontotrichomelic syndrome Orphanet:2723 Odontotrichomelic syndrome confirmed odontotrichomelic syndrome Orphanet:2723 Orphanet @@ -101540,7 +98520,6 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym X-linked intellectual disability, Cabezas type Orphanet:85293 X-linked intellectual disability, Cabezas type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked intellectual disability, Cabezas type Orphanet:85293 Orphanet MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym Robinow-Unger syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome confirmed Robinow-Unger syndrome Orphanet:2780 Orphanet MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym hyperostosis generalisata with striations hyperostosis generalisata with striations Hyperostosis generalisata with striations Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome confirmed hyperostosis generalisata with striations Orphanet:2780 Orphanet -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:1243 Best vitelliform macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD Orphanet:1243 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker dystrophinopathy Orphanet:98895 Becker muscular dystrophy confirmed Becker dystrophinopathy Orphanet:98895 Orphanet MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy Orphanet:98895 Becker muscular dystrophy confirmed Becker muscular dystrophy Orphanet:98895 Orphanet MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD Orphanet:98895 Becker muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BMD Orphanet:98895 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -101997,7 +98976,6 @@ MONDO:0010720 partial androgen insensitivity syndrome oio:hasExactSynonym PAIS MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked juvenile retinoschisis Orphanet:792 X-linked retinoschisis confirmed X-linked juvenile retinoschisis Orphanet:792 Orphanet MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym X-linked retinoschisis Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked retinoschisis Orphanet:792 Orphanet MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym XLRS Orphanet:792 X-linked retinoschisis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XLRS Orphanet:792 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010726 Rett syndrome oio:hasExactSynonym RTS Orphanet:2909 Rothmund-Thomson syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RTS Orphanet:2909 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010726 Rett syndrome oio:hasExactSynonym Rett syndrome Orphanet:778 Rett syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Rett syndrome Orphanet:778 Orphanet MONDO:0010728 SCARF syndrome oio:hasExactSynonym SCARF syndrome Orphanet:3134 SCARF syndrome confirmed SCARF syndrome Orphanet:3134 Orphanet MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym Golabi-Rosen syndrome Orphanet:373 Simpson-Golabi-Behmel syndrome confirmed Golabi-Rosen syndrome Orphanet:373 Orphanet @@ -102116,7 +99094,6 @@ MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym pseudoaminopterin MONDO:0010865 pseudoaminopterin syndrome oio:hasExactSynonym ASSA Orphanet:221120 Pseudoaminopterin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ASSA Orphanet:221120 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010867 PARC syndrome oio:hasExactSynonym PARC syndrome Orphanet:2825 PARC syndrome confirmed PARC syndrome Orphanet:2825 Orphanet MONDO:0010867 PARC syndrome oio:hasExactSynonym poikiloderma-alopecia-retrognathism-cleft palate syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 PARC syndrome confirmed poikiloderma-alopecia-retrognathism-cleft palate syndrome Orphanet:2825 Orphanet -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Finnish tibial muscular dystrophy Orphanet:609 Tibial muscular dystrophy confirmed Finnish tibial muscular dystrophy Orphanet:609 Orphanet MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym Udd myopathy Orphanet:609 Tibial muscular dystrophy confirmed Udd myopathy Orphanet:609 Orphanet MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym distal myopathy, Udd type distal myopathy, Udd type Distal myopathy, Udd type Orphanet:609 Tibial muscular dystrophy confirmed distal myopathy, Udd type Orphanet:609 Orphanet @@ -102130,8 +99107,8 @@ MONDO:0010878 hereditary spastic paraplegia 6 oio:hasExactSynonym SPG6 Orphan MONDO:0010879 CODAS syndrome oio:hasExactSynonym CODAS syndrome Orphanet:1458 CODAS syndrome confirmed CODAS syndrome Orphanet:1458 Orphanet MONDO:0010879 CODAS syndrome oio:hasExactSynonym cerebrooculodentoauriculoskeletal syndrome cerebrooculodentoauriculoskeletal syndrome Cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 CODAS syndrome confirmed cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym 8q13 microdeletion syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed 8q13 microdeletion syndrome Orphanet:2496 Orphanet -MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet +MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Verloes-David syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed Verloes-David syndrome Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome mesomelia-synostoses syndrome Mesomelia-synostoses syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed mesomelia-synostoses syndrome Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Mesomelia-synostoses syndrome confirmed mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Orphanet @@ -102201,13 +99178,11 @@ MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym Marden-Walker-lik MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym van den Ende-Gupta syndrome van den Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed van den Ende-Gupta syndrome Orphanet:2460 Orphanet MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym VDEGS Orphanet:2460 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VDEGS Orphanet:2460 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010961 obesity due to prohormone convertase I deficiency oio:hasExactSynonym PCI deficiency Orphanet:71528 Obesity due to prohormone convertase I deficiency confirmed PCI deficiency Orphanet:71528 Orphanet -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma, Bothnian type Diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type confirmed diffuse palmoplantar keratoderma, Bothnian type Orphanet:2337 Orphanet MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma oio:hasExactSynonym KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma confirmed KRT1-related diffuse nonepidermolytic keratoderma Orphanet:530838 Orphanet MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym achondrogenesis, Parenti-Fraccaro type achondrogenesis, Parenti-Fraccaro type Achondrogenesis, Parenti-Fraccaro type Orphanet:93298 Achondrogenesis type 1B confirmed achondrogenesis, Parenti-Fraccaro type Orphanet:93298 Orphanet MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Ferlini-Ragno-Calzolari syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome confirmed Ferlini-Ragno-Calzolari syndrome Orphanet:2180 Orphanet MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oio:hasExactSynonym Waaler-Aarskog syndrome Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome confirmed Waaler-Aarskog syndrome Orphanet:2180 Orphanet MONDO:0010977 Brody myopathy oio:hasExactSynonym Brody myopathy Orphanet:53347 Brody myopathy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brody myopathy Orphanet:53347 Orphanet -MONDO:0010979 Timothy syndrome oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010979 Timothy syndrome oio:hasExactSynonym TIMOTHY syndrome TIMOTHY syndrome Timothy syndrome Orphanet:65283 Timothy syndrome confirmed TIMOTHY syndrome Orphanet:65283 Orphanet MONDO:0010979 Timothy syndrome oio:hasExactSynonym Timothy syndrome Orphanet:65283 Timothy syndrome confirmed Timothy syndrome Orphanet:65283 Orphanet MONDO:0010979 Timothy syndrome oio:hasExactSynonym long QT syndrome-syndactyly syndrome long QT syndrome-syndactyly syndrome Long QT syndrome-syndactyly syndrome Orphanet:65283 Timothy syndrome confirmed long QT syndrome-syndactyly syndrome Orphanet:65283 Orphanet @@ -102345,7 +99320,6 @@ MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynon MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym musculocontractural Ehlers-Danlos syndrome musculocontractural Ehlers-Danlos syndrome Musculocontractural Ehlers-Danlos syndrome Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome confirmed musculocontractural Ehlers-Danlos syndrome Orphanet:2953 Orphanet MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type oio:hasExactSynonym MCEDS MCEDS mcEDS Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCEDS Orphanet:2953 Orphanet MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228363 CLN6 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed vLINCL Orphanet:228363 Orphanet -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A oio:hasExactSynonym vLINCL Orphanet:228366 CLN7 disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed vLINCL Orphanet:228366 Orphanet MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p mosaicism Orphanet:884 Tetrasomy 12p confirmed Isochromosome 12p mosaicism Orphanet:884 Orphanet MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Isochromosome 12p syndrome Orphanet:884 Tetrasomy 12p confirmed Isochromosome 12p syndrome Orphanet:884 Orphanet MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Orphanet:884 Tetrasomy 12p confirmed Pallister-Killian syndrome Orphanet:884 Orphanet @@ -102383,7 +99357,6 @@ MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym par MONDO:0011178 infantile convulsions and choreoathetosis oio:hasExactSynonym infantile convulsions and choreoathetosis infantile convulsions and choreoathetosis Infantile convulsions and choreoathetosis Orphanet:31709 Infantile convulsions and choreoathetosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed infantile convulsions and choreoathetosis Orphanet:31709 Orphanet MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech and language disorder with orofacial dyspraxia speech and language disorder with orofacial dyspraxia Speech and language disorder with orofacial dyspraxia Orphanet:209908 Isolated childhood apraxia of speech confirmed speech and language disorder with orofacial dyspraxia Orphanet:209908 Orphanet MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym speech-language disorder type 1 speech-language disorder type 1 Speech-language disorder type 1 Orphanet:209908 Isolated childhood apraxia of speech confirmed speech-language disorder type 1 Orphanet:209908 Orphanet -MONDO:0011184 childhood apraxia of speech oio:hasExactSynonym CAS Orphanet:56425 Cold agglutinin disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CAS Orphanet:56425 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Thiel-Behnke corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy confirmed Thiel-Behnke corneal dystrophy Orphanet:98960 Orphanet MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym Waardenburg-Jonker corneal dystrophy Orphanet:98960 Thiel-Behnke corneal dystrophy confirmed Waardenburg-Jonker corneal dystrophy Orphanet:98960 Orphanet MONDO:0011185 Thiel-Behnke corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 2 anterior limiting membrane dystrophy type 2 Anterior limiting membrane dystrophy type 2 Orphanet:98960 Thiel-Behnke corneal dystrophy confirmed anterior limiting membrane dystrophy type 2 Orphanet:98960 Orphanet @@ -102399,9 +99372,6 @@ MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynony MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type oio:hasExactSynonym spondyloepimetaphyseal dysplasia, Missouri type spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type confirmed spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 Orphanet MONDO:0011202 RHYNS syndrome oio:hasExactSynonym RHYNS syndrome Orphanet:140976 RHYNS syndrome confirmed RHYNS syndrome Orphanet:140976 Orphanet MONDO:0011202 RHYNS syndrome oio:hasExactSynonym retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 RHYNS syndrome confirmed retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome Orphanet:140976 Orphanet -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos Disease Degos Disease Degos disease Orphanet:656071 Atrophic papulosis confirmed Degos Disease Orphanet:656071 Orphanet -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Degos disease Orphanet:656071 Atrophic papulosis confirmed Degos disease Orphanet:656071 Orphanet -MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym Köhlmeier-Degos disease Orphanet:656071 Atrophic papulosis confirmed Köhlmeier-Degos disease Orphanet:656071 Orphanet MONDO:0011208 malignant atrophic papulosis oio:hasExactSynonym malignant atrophic papulosis malignant atrophic papulosis Malignant atrophic papulosis Orphanet:679 Malignant atrophic papulosis confirmed malignant atrophic papulosis Orphanet:679 Orphanet MONDO:0011213 Pierpont syndrome oio:hasExactSynonym Pierpont syndrome Orphanet:487825 Pierpont syndrome confirmed Pierpont syndrome Orphanet:487825 Orphanet MONDO:0011213 Pierpont syndrome oio:hasExactSynonym plantar lipomatosis-facial dysmorphism-developmental delay syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 Pierpont syndrome confirmed plantar lipomatosis-facial dysmorphism-developmental delay syndrome Orphanet:487825 Orphanet @@ -102499,7 +99469,6 @@ MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome oio:hasExact MONDO:0011327 neuronal intranuclear inclusion disease oio:hasExactSynonym neuronal intranuclear inclusion disease neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease Orphanet:2289 Neuronal intranuclear inclusion disease confirmed neuronal intranuclear inclusion disease Orphanet:2289 Orphanet MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym spinocerebellar ataxia type 10 spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 Orphanet:98761 Spinocerebellar ataxia type 10 confirmed spinocerebellar ataxia type 10 Orphanet:98761 Orphanet MONDO:0011330 spinocerebellar ataxia type 10 oio:hasExactSynonym SCA10 Orphanet:98761 Spinocerebellar ataxia type 10 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA10 Orphanet:98761 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym limb-mammary syndrome limb-mammary syndrome Limb-mammary syndrome Orphanet:69085 Limb-mammary syndrome confirmed limb-mammary syndrome Orphanet:69085 Orphanet MONDO:0011334 limb-mammary syndrome oio:hasExactSynonym LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type confirmed spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet:93360 Orphanet @@ -102716,7 +99685,6 @@ MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio: MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma oio:hasExactSynonym woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 Carvajal syndrome http://purl.obolibrary.org/obo/OMO_0003005 confirmed woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Orphanet:65282 Orphanet MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym NFU1 deficiency Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 confirmed NFU1 deficiency Orphanet:401869 Orphanet MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 confirmed multiple mitochondrial dysfunctions syndrome type 1 Orphanet:401869 Orphanet -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym DSMA2 DSMA2 dSMA2 Orphanet:139525 Distal hereditary motor neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DSMA2 Orphanet:139525 Orphanet MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 2 autosomal recessive distal spinal muscular atrophy type 2 Autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 Distal hereditary motor neuropathy, Jerash type confirmed autosomal recessive distal spinal muscular atrophy type 2 Orphanet:139552 Orphanet MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym dHMNJ Orphanet:139552 Distal hereditary motor neuropathy, Jerash type confirmed dHMNJ Orphanet:139552 Orphanet MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym COIF syndrome Orphanet:79144 Isolated congenital onychodysplasia confirmed COIF syndrome Orphanet:79144 Orphanet @@ -102806,7 +99774,6 @@ MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym ligase 4 syndrome li MONDO:0011686 DNA ligase IV deficiency oio:hasExactSynonym DNA ligase IV deficiency Orphanet:99812 LIG4 syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed DNA ligase IV deficiency Orphanet:99812 Orphanet MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym autosomal dominant Charcot-Marie-Tooth disease type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F confirmed autosomal dominant Charcot-Marie-Tooth disease type 2F Orphanet:99940 Orphanet MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F oio:hasExactSynonym CMT2F Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2F Orphanet:99940 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCAR16 Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR16 Orphanet:412057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 confirmed spinocerebellar ataxia type 15/16 Orphanet:98769 Orphanet MONDO:0011694 spinocerebellar ataxia type 15/16 oio:hasExactSynonym SCA15/16 Orphanet:98769 Spinocerebellar ataxia type 15/16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA15/16 Orphanet:98769 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011698 glycine N-methyltransferase deficiency oio:hasExactSynonym Glycine N-methyltransferase deficiency Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency confirmed Glycine N-methyltransferase deficiency Orphanet:289891 Orphanet @@ -102914,8 +99881,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym spastic parap MONDO:0011803 hereditary spastic paraplegia 7 oio:hasExactSynonym SPG7 Orphanet:99013 Spastic paraplegia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG7 Orphanet:99013 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym caspase 8 deficiency syndrome caspase 8 deficiency syndrome Caspase 8 deficiency syndrome Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency confirmed caspase 8 deficiency syndrome Orphanet:275517 Orphanet MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym CEDS CEDS cEDS Orphanet:287 Classical Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CEDS Orphanet:287 Orphanet -MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym osteofibrous dysplasia osteofibrous dysplasia Osteofibrous dysplasia Orphanet:488265 Osteofibrous dysplasia confirmed osteofibrous dysplasia Orphanet:488265 Orphanet MONDO:0011806 osteofibrous dysplasia oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011810 horizontal gaze palsy with progressive scoliosis oio:hasExactSynonym progressive external ophthalmoplegia and scoliosis progressive external ophthalmoplegia and scoliosis Progressive external ophthalmoplegia and scoliosis Orphanet:2744 Horizontal gaze palsy with progressive scoliosis confirmed progressive external ophthalmoplegia and scoliosis Orphanet:2744 Orphanet @@ -103023,8 +99988,8 @@ MONDO:0011927 tufted angioma oio:hasExactSynonym tufted angioma tufted angioma MONDO:0011928 caudal duplication oio:hasExactSynonym dipygus dipygus Dipygus Orphanet:1756 Caudal duplication confirmed dipygus Orphanet:1756 Orphanet MONDO:0011928 caudal duplication oio:hasExactSynonym split notochord syndrome split notochord syndrome Split notochord syndrome Orphanet:1756 Caudal duplication confirmed split notochord syndrome Orphanet:1756 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym 1p36 deletion syndrome Orphanet:1606 1p36 deletion syndrome confirmed 1p36 deletion syndrome Orphanet:1606 Orphanet -MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet +MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1p36 deletion 1p36 Deletion 1p36 Orphanet:1606 1p36 deletion syndrome confirmed deletion 1p36 Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1pter deletion 1pter Deletion 1pter Orphanet:1606 1p36 deletion syndrome confirmed deletion 1pter Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym monosomy 1p36 monosomy 1p36 Monosomy 1p36 Orphanet:1606 1p36 deletion syndrome confirmed monosomy 1p36 Orphanet:1606 Orphanet @@ -103147,7 +100112,6 @@ MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-relate MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated FAP Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis confirmed MUTYH-related attenuated FAP Orphanet:247798 Orphanet MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial polyposis coli Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis confirmed MUTYH-related attenuated familial polyposis coli Orphanet:247798 Orphanet MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed MUTYH-related attenuated familial adenomatous polyposis Orphanet:247798 Orphanet -MONDO:0012041 familial adenomatous polyposis 2 oio:hasExactSynonym MAP Orphanet:679 Malignant atrophic papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAP Orphanet:679 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type 1 anterior limiting membrane dystrophy type 1 Anterior limiting membrane dystrophy type 1 Orphanet:98961 Reis-Bücklers corneal dystrophy confirmed anterior limiting membrane dystrophy type 1 Orphanet:98961 Orphanet MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym anterior limiting membrane dystrophy type I anterior limiting membrane dystrophy type I Anterior limiting membrane dystrophy type I Orphanet:98961 Reis-Bücklers corneal dystrophy confirmed anterior limiting membrane dystrophy type I Orphanet:98961 Orphanet MONDO:0012043 Reis-Bucklers corneal dystrophy oio:hasExactSynonym atypical granular corneal dystrophy atypical granular corneal dystrophy Atypical granular corneal dystrophy Orphanet:98961 Reis-Bücklers corneal dystrophy confirmed atypical granular corneal dystrophy Orphanet:98961 Orphanet @@ -103334,8 +100298,8 @@ MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythem MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q subtelomere deletion syndrome Orphanet:65286 3q29 microdeletion syndrome confirmed 3q subtelomere deletion syndrome Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q29 microdeletion syndrome Orphanet:65286 3q29 microdeletion syndrome confirmed 3q29 microdeletion syndrome Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3qter deletion Orphanet:65286 3q29 microdeletion syndrome confirmed 3qter deletion Orphanet:65286 Orphanet -MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Del(3)(q29) del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet +MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3q29 monosomy 3q29 Monosomy 3q29 Orphanet:65286 3q29 microdeletion syndrome confirmed monosomy 3q29 Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3qter monosomy 3qter Monosomy 3qter Orphanet:65286 3q29 microdeletion syndrome confirmed monosomy 3qter Orphanet:65286 Orphanet MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction oio:hasExactSynonym syndactyly type 9 syndactyly type 9 Syndactyly type 9 Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction confirmed syndactyly type 9 Orphanet:157801 Orphanet @@ -103463,7 +100427,6 @@ MONDO:0012450 spinocerebellar ataxia type 28 oio:hasExactSynonym SCA28 Orphan MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym autosomal dominant spastic paraplegia type 31 autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 confirmed autosomal dominant spastic paraplegia type 31 Orphanet:101011 Orphanet MONDO:0012453 hereditary spastic paraplegia 31 oio:hasExactSynonym SPG31 Orphanet:101011 Autosomal dominant spastic paraplegia type 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG31 Orphanet:101011 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym Kleefstra syndrome Orphanet:261494 Kleefstra syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Kleefstra syndrome Orphanet:261494 Orphanet -MONDO:0012455 Kleefstra syndrome oio:hasExactSynonym 9Q subtelomeric deletion syndrome 9Q subtelomeric deletion syndrome 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed 9Q subtelomeric deletion syndrome Orphanet:96147 Orphanet MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oio:hasExactSynonym PIGM-CDG Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PIGM-CDG Orphanet:83639 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod ERG cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod ERG Orphanet:209932 Cone dystrophy with supernormal rod response confirmed cone dystrophy with supernormal rod ERG Orphanet:209932 Orphanet MONDO:0012475 cone dystrophy with supernormal rod response oio:hasExactSynonym cone dystrophy with supernormal rod electroretinogram cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal rod electroretinogram Orphanet:209932 Cone dystrophy with supernormal rod response confirmed cone dystrophy with supernormal rod electroretinogram Orphanet:209932 Orphanet @@ -103476,8 +100439,6 @@ MONDO:0012479 congenital malabsorptive diarrhea 4 oio:hasExactSynonym enteric a MONDO:0012481 mevalonic aciduria oio:hasExactSynonym complete mevalonate kinase deficiency complete mevalonate kinase deficiency Complete mevalonate kinase deficiency Orphanet:29 Mevalonic aciduria confirmed complete mevalonate kinase deficiency Orphanet:29 Orphanet MONDO:0012481 mevalonic aciduria oio:hasExactSynonym mevalonic aciduria mevalonic aciduria Mevalonic aciduria Orphanet:29 Mevalonic aciduria confirmed mevalonic aciduria Orphanet:29 Orphanet MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MVA Orphanet:29 Mevalonic aciduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MVA Orphanet:29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym MKD Orphanet:309025 Mevalonate kinase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MKD Orphanet:309025 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0012481 mevalonic aciduria oio:hasExactSynonym HIDS Orphanet:343 Hyperimmunoglobulinemia D with periodic fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIDS Orphanet:343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMD, Geneviève type Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type confirmed SEMD, Geneviève type Orphanet:168454 Orphanet MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynonym SEMDG Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SEMDG Orphanet:168454 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012496 Koolen-de Vries syndrome oio:hasExactSynonym KdVS Orphanet:96169 Koolen-De Vries syndrome confirmed KdVS Orphanet:96169 Orphanet @@ -103645,8 +100606,8 @@ MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym severe intellectual MONDO:0012735 Temple-Baraitser syndrome oio:hasExactSynonym TMBTS Orphanet:420561 Temple-Baraitser syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TMBTS Orphanet:420561 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oio:hasExactSynonym Balikova-Vermeesch syndrome Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome confirmed Balikova-Vermeesch syndrome Orphanet:139450 Orphanet MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal 22q11.2 microdeletion syndrome distal 22q11.2 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Orphanet:261330 Distal 22q11.2 microdeletion syndrome confirmed distal 22q11.2 microdeletion syndrome Orphanet:261330 Orphanet -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome confirmed distal del(22)(q11.2) Orphanet:261330 Orphanet MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome confirmed distal del(22)(q11.2) Orphanet:261330 Orphanet +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal del(22)(q11.2) distal del(22)(q11.2) Distal del(22)(q11.2) Orphanet:261330 Distal 22q11.2 microdeletion syndrome confirmed distal del(22)(q11.2) Orphanet:261330 Orphanet MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal oio:hasExactSynonym distal monosomy 22q11.2 distal monosomy 22q11.2 Distal monosomy 22q11.2 Orphanet:261330 Distal 22q11.2 microdeletion syndrome confirmed distal monosomy 22q11.2 Orphanet:261330 Orphanet MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency confirmed GSD due to aldolase A deficiency Orphanet:57 Orphanet MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym GSD type 12 Orphanet:57 Glycogen storage disease due to aldolase A deficiency confirmed GSD type 12 Orphanet:57 Orphanet @@ -103658,8 +100619,8 @@ MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExact MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogenosis type XII glycogenosis type XII Glycogenosis type XII Orphanet:57 Glycogen storage disease due to aldolase A deficiency confirmed glycogenosis type XII Orphanet:57 Orphanet MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogen storage disease due to aldolase A deficiency glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed glycogen storage disease due to aldolase A deficiency Orphanet:57 Orphanet MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome oio:hasExactSynonym Vuopala disease Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome confirmed Vuopala disease Orphanet:53696 Orphanet -MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) proximal del(16)(p11.2) Proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet +MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal monosomy 16p11.2 proximal monosomy 16p11.2 Proximal monosomy 16p11.2 Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal monosomy 16p11.2 Orphanet:261197 Orphanet MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym 3q29 microduplication syndrome Orphanet:251038 3q29 microduplication syndrome confirmed 3q29 microduplication syndrome Orphanet:251038 Orphanet MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym trisomy 3q29 trisomy 3q29 Trisomy 3q29 Orphanet:251038 3q29 microduplication syndrome confirmed trisomy 3q29 Orphanet:251038 Orphanet @@ -103669,8 +100630,8 @@ MONDO:0012764 RIDDLE syndrome oio:hasExactSynonym RIDDLE syndrome Orphanet:42 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 confirmed autosomal dominant spastic paraplegia type 37 Orphanet:171612 Orphanet MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym SPG37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG37 Orphanet:171612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym 15q13.3 microdeletion syndrome Orphanet:199318 15q13.3 microdeletion syndrome confirmed 15q13.3 microdeletion syndrome Orphanet:199318 Orphanet -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym monosomy 15q13.3 monosomy 15q13.3 Monosomy 15q13.3 Orphanet:199318 15q13.3 microdeletion syndrome confirmed monosomy 15q13.3 Orphanet:199318 Orphanet MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type In Orphanet:244310 RFT1-CDG confirmed CDG syndrome type In Orphanet:244310 Orphanet MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG-In Orphanet:244310 RFT1-CDG confirmed CDG-In Orphanet:244310 Orphanet @@ -103735,8 +100696,8 @@ MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym osteopetr MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym 2q32q33 microdeletion syndrome Orphanet:251019 2q32q33 microdeletion syndrome confirmed 2q32q33 microdeletion syndrome Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Del(2)(q32) del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32) Orphanet:251019 Orphanet -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32q33) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32q33) Orphanet:251019 Orphanet +MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32q33) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32 monosomy 2q32 Monosomy 2q32 Orphanet:251019 2q32q33 microdeletion syndrome confirmed monosomy 2q32 Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32q33 monosomy 2q32q33 Monosomy 2q32q33 Orphanet:251019 2q32q33 microdeletion syndrome confirmed monosomy 2q32q33 Orphanet:251019 Orphanet MONDO:0012866 hereditary spastic paraplegia 35 oio:hasExactSynonym autosomal recessive spastic paraplegia type 35 autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 35 Orphanet:171629 Autosomal recessive spastic paraplegia type 35 confirmed autosomal recessive spastic paraplegia type 35 Orphanet:171629 Orphanet @@ -103775,16 +100736,16 @@ MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q2 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q21) Orphanet:250989 1q21.1 microdeletion syndrome confirmed Del(1)(q21) Orphanet:250989 Orphanet MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym monosomy 1q21.1 monosomy 1q21.1 Monosomy 1q21.1 Orphanet:250989 1q21.1 microdeletion syndrome confirmed monosomy 1q21.1 Orphanet:250989 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym 1q21.1 microduplication syndrome Orphanet:250994 1q21.1 microduplication syndrome confirmed 1q21.1 microduplication syndrome Orphanet:250994 Orphanet -MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) dup(1)(q21.1) Dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet +MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym trisomy 1q21.1 trisomy 1q21.1 Trisomy 1q21.1 Orphanet:250994 1q21.1 microduplication syndrome confirmed trisomy 1q21.1 Orphanet:250994 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym 2p15p16.1 microdeletion syndrome Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed 2p15p16.1 microdeletion syndrome Orphanet:261349 Orphanet -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym monosomy 2p15p16.1 monosomy 2p15p16.1 Monosomy 2p15p16.1 Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed monosomy 2p15p16.1 Orphanet:261349 Orphanet MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym 1q41q42 microdeletion syndrome Orphanet:250999 1q41q42 microdeletion syndrome confirmed 1q41q42 microdeletion syndrome Orphanet:250999 Orphanet -MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome confirmed Del(1)(q41q42) Orphanet:250999 Orphanet MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome confirmed Del(1)(q41q42) Orphanet:250999 Orphanet +MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome confirmed Del(1)(q41q42) Orphanet:250999 Orphanet MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym monosomy 1q41q42 monosomy 1q41q42 Monosomy 1q41q42 Orphanet:250999 1q41q42 microdeletion syndrome confirmed monosomy 1q41q42 Orphanet:250999 Orphanet MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym autosomal dominant spastic paraplegia type 42 autosomal dominant spastic paraplegia type 42 Autosomal dominant spastic paraplegia type 42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 confirmed autosomal dominant spastic paraplegia type 42 Orphanet:171863 Orphanet MONDO:0012928 hereditary spastic paraplegia 42 oio:hasExactSynonym SPG42 Orphanet:171863 Autosomal dominant spastic paraplegia type 42 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG42 Orphanet:171863 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -103838,8 +100799,8 @@ MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis o MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym DIRA Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIRA Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis oio:hasExactSynonym OMPP Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OMPP Orphanet:210115 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013024 chronic thromboembolic pulmonary hypertension oio:hasExactSynonym CTEPH Orphanet:70591 Chronic thromboembolic pulmonary hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CTEPH Orphanet:70591 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome confirmed Del(6)(q25) Orphanet:251056 Orphanet MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Del(6)(q25) del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome confirmed Del(6)(q25) Orphanet:251056 Orphanet +MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym Del(6)(q25) Orphanet:251056 6q25.2q25.3 microdeletion syndrome confirmed Del(6)(q25) Orphanet:251056 Orphanet MONDO:0013025 chromosome 6q24-q25 deletion syndrome oio:hasExactSynonym monosomy 6q25 monosomy 6q25 Monosomy 6q25 Orphanet:251056 6q25.2q25.3 microdeletion syndrome confirmed monosomy 6q25 Orphanet:251056 Orphanet MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym subepithelial mucinous corneal dystrophy subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy Orphanet:98959 Subepithelial mucinous corneal dystrophy confirmed subepithelial mucinous corneal dystrophy Orphanet:98959 Orphanet MONDO:0013026 subepithelial mucinous corneal dystrophy oio:hasExactSynonym SMCD Orphanet:98959 Subepithelial mucinous corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMCD Orphanet:98959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -103940,8 +100901,8 @@ MONDO:0013165 hereditary spastic paraplegia 45 oio:hasExactSynonym SPG65 Orph MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym GABA transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency confirmed GABA transaminase deficiency Orphanet:2066 Orphanet MONDO:0013166 GABA aminotransaminase deficiency oio:hasExactSynonym gamma-aminobutyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency Gamma-aminobutyric acid transaminase deficiency Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency confirmed gamma-aminobutyric acid transaminase deficiency Orphanet:2066 Orphanet MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym 5p13 microduplication syndrome Orphanet:329802 5p13 microduplication syndrome confirmed 5p13 microduplication syndrome Orphanet:329802 Orphanet -MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome confirmed dup(5)(p13) Orphanet:329802 Orphanet MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome confirmed dup(5)(p13) Orphanet:329802 Orphanet +MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym dup(5)(p13) dup(5)(p13) Dup(5)(p13) Orphanet:329802 5p13 microduplication syndrome confirmed dup(5)(p13) Orphanet:329802 Orphanet MONDO:0013169 chromosome 5p13 duplication syndrome oio:hasExactSynonym trisomy 5p13 trisomy 5p13 Trisomy 5p13 Orphanet:329802 5p13 microduplication syndrome confirmed trisomy 5p13 Orphanet:329802 Orphanet MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym Urban-Rifkin-Davis syndrome Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies confirmed Urban-Rifkin-Davis syndrome Orphanet:221145 Orphanet MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym autosomal recessive cutis laxa type 1C autosomal recessive cutis laxa type 1C Autosomal recessive cutis laxa type 1C Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies confirmed autosomal recessive cutis laxa type 1C Orphanet:221145 Orphanet @@ -103959,8 +100920,8 @@ MONDO:0013178 congenital muscular dystrophy due to LMNA mutation oio:hasExactSyn MONDO:0013179 hereditary spastic paraplegia 44 oio:hasExactSynonym SPG44 Orphanet:320401 Autosomal recessive spastic paraplegia type 44 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG44 Orphanet:320401 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 duplication syndrome Orphanet:217385 17p13.3 microduplication syndrome confirmed 17p13.3 duplication syndrome Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 microduplication syndrome Orphanet:217385 17p13.3 microduplication syndrome confirmed 17p13.3 microduplication syndrome Orphanet:217385 Orphanet -MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet +MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym trisomy 17p13.3 trisomy 17p13.3 Trisomy 17p13.3 Orphanet:217385 17p13.3 microduplication syndrome confirmed trisomy 17p13.3 Orphanet:217385 Orphanet MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym congenital tufting enteropathy congenital tufting enteropathy Congenital tufting enteropathy Orphanet:92050 Congenital tufting enteropathy confirmed congenital tufting enteropathy Orphanet:92050 Orphanet MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym intestinal epithelial dysplasia intestinal epithelial dysplasia Intestinal epithelial dysplasia Orphanet:92050 Congenital tufting enteropathy confirmed intestinal epithelial dysplasia Orphanet:92050 Orphanet @@ -104002,14 +100963,14 @@ MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly oio:hasExa MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym ALX1-related frontonasal dysplasia Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome confirmed ALX1-related frontonasal dysplasia Orphanet:306542 Orphanet MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome oio:hasExactSynonym frontonasal dysplasia type 3 frontonasal dysplasia type 3 Frontonasal dysplasia type 3 Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome confirmed frontonasal dysplasia type 3 Orphanet:306542 Orphanet MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym 14q11.2 microdeletion syndrome Orphanet:261120 14q11.2 microdeletion syndrome confirmed 14q11.2 microdeletion syndrome Orphanet:261120 Orphanet -MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome confirmed Del(14)(q11.2) Orphanet:261120 Orphanet MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome confirmed Del(14)(q11.2) Orphanet:261120 Orphanet +MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym Del(14)(q11.2) Del(14)(q11.2) del(14)(q11.2) Orphanet:261120 14q11.2 microdeletion syndrome confirmed Del(14)(q11.2) Orphanet:261120 Orphanet MONDO:0013272 chromosome 14q11-q22 deletion syndrome oio:hasExactSynonym monosomy 14q11.2 monosomy 14q11.2 Monosomy 14q11.2 Orphanet:261120 14q11.2 microdeletion syndrome confirmed monosomy 14q11.2 Orphanet:261120 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym 16p13.3 microduplication syndrome Orphanet:96078 16p13.3 microduplication syndrome confirmed 16p13.3 microduplication syndrome Orphanet:96078 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal duplication 16p distal duplication 16p Distal duplication 16p Orphanet:96078 16p13.3 microduplication syndrome confirmed distal duplication 16p Orphanet:96078 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym distal trisomy 16p distal trisomy 16p Distal trisomy 16p Orphanet:96078 16p13.3 microduplication syndrome confirmed distal trisomy 16p Orphanet:96078 Orphanet -MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome confirmed dup(16)(p13.3) Orphanet:96078 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) dup(16)(p13.3) Dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome confirmed dup(16)(p13.3) Orphanet:96078 Orphanet +MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym dup(16)(p13.3) Orphanet:96078 16p13.3 microduplication syndrome confirmed dup(16)(p13.3) Orphanet:96078 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym telomeric duplication 16p telomeric duplication 16p Telomeric duplication 16p Orphanet:96078 16p13.3 microduplication syndrome confirmed telomeric duplication 16p Orphanet:96078 Orphanet MONDO:0013273 chromosome 16p13.3 duplication syndrome oio:hasExactSynonym trisomy 16pter trisomy 16pter Trisomy 16pter Orphanet:96078 16p13.3 microduplication syndrome confirmed trisomy 16pter Orphanet:96078 Orphanet MONDO:0013276 Reynolds syndrome oio:hasExactSynonym Reynolds syndrome Orphanet:779 Reynolds syndrome confirmed Reynolds syndrome Orphanet:779 Orphanet @@ -104030,15 +100991,15 @@ MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis type XV glycogenosis type XV Glycogenosis type XV Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency confirmed glycogenosis type XV Orphanet:263297 Orphanet MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym glycogenosis with severe cardiomyopathy due to glycogenin deficiency glycogenosis with severe cardiomyopathy due to glycogenin deficiency Glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency confirmed glycogenosis with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Orphanet MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym 4q21 microdeletion syndrome Orphanet:238750 4q21 microdeletion syndrome confirmed 4q21 microdeletion syndrome Orphanet:238750 Orphanet -MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome confirmed Del(4)(q21) Orphanet:238750 Orphanet MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome confirmed Del(4)(q21) Orphanet:238750 Orphanet +MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym Del(4)(q21) Del(4)(q21) del(4)(q21) Orphanet:238750 4q21 microdeletion syndrome confirmed Del(4)(q21) Orphanet:238750 Orphanet MONDO:0013292 chromosome 4q21 deletion syndrome oio:hasExactSynonym monosomy 4q21 monosomy 4q21 Monosomy 4q21 Orphanet:238750 4q21 microdeletion syndrome confirmed monosomy 4q21 Orphanet:238750 Orphanet MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym 8p11 myeloproliferative syndrome Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement confirmed 8p11 myeloproliferative syndrome Orphanet:168953 Orphanet MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement confirmed myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Orphanet MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym stem cell leukemia/lymphoma stem cell leukemia/lymphoma Stem cell leukemia/lymphoma Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement confirmed stem cell leukemia/lymphoma Orphanet:168953 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym 17q21.31 microduplication syndrome Orphanet:217340 17q21.31 microduplication syndrome confirmed 17q21.31 microduplication syndrome Orphanet:217340 Orphanet -MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet +MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym trisomy 17q21.31 trisomy 17q21.31 Trisomy 17q21.31 Orphanet:217340 17q21.31 microduplication syndrome confirmed trisomy 17q21.31 Orphanet:217340 Orphanet MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency Orphanet:91 Aromatase deficiency confirmed aromatase deficiency Orphanet:91 Orphanet MONDO:0013301 aromatase deficiency oio:hasExactSynonym congenital estrogen deficiency congenital estrogen deficiency Congenital estrogen deficiency Orphanet:91 Aromatase deficiency confirmed congenital estrogen deficiency Orphanet:91 Orphanet @@ -104056,8 +101017,8 @@ MONDO:0013316 occult macular dystrophy oio:hasExactSynonym occult macular dystr MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OCMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym 16p11.2p12.2 microdeletion syndrome Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed 16p11.2p12.2 microdeletion syndrome Orphanet:261211 Orphanet -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym monosomy 16p11.2p12.2 monosomy 16p11.2p12.2 Monosomy 16p11.2p12.2 Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed monosomy 16p11.2p12.2 Orphanet:261211 Orphanet MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type III CDG syndrome type III CDG syndrome type IIi Orphanet:263487 COG5-CDG confirmed CDG syndrome type III Orphanet:263487 Orphanet MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG-III CDG-III CDG-IIi Orphanet:263487 COG5-CDG confirmed CDG-III Orphanet:263487 Orphanet @@ -104096,8 +101057,8 @@ MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym co MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym CDAN4 Orphanet:293825 Congenital dyserythropoietic anemia type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDAN4 Orphanet:293825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome confirmed overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym 17q11 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed 17q11 microdeletion syndrome Orphanet:97685 Orphanet -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed NF1 microdeletion syndrome Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym monosomy 17q11 monosomy 17q11 Monosomy 17q11 Orphanet:97685 17q11 microdeletion syndrome confirmed monosomy 17q11 Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 Orphanet @@ -104120,13 +101081,13 @@ MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q oio:has MONDO:0013391 sterol carrier protein 2 deficiency oio:hasExactSynonym leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome confirmed leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Orphanet MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia confirmed autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Orphanet MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym SCAR10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR10 Orphanet:284289 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) distal del(7)(q11.23) Distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet +MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal monosomy 7q11.23 distal monosomy 7q11.23 Distal monosomy 7q11.23 Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal monosomy 7q11.23 Orphanet:254351 Orphanet MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome oio:hasExactSynonym porencephaly-microcephaly-bilateral congenital cataract syndrome porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Orphanet MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym 1p31p32 microdeletion syndrome Orphanet:401986 1p31p32 microdeletion syndrome confirmed 1p31p32 microdeletion syndrome Orphanet:401986 Orphanet -MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome confirmed Del(1)(p31p32) Orphanet:401986 Orphanet MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Del(1)(p31p32) del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome confirmed Del(1)(p31p32) Orphanet:401986 Orphanet +MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym Del(1)(p31p32) Orphanet:401986 1p31p32 microdeletion syndrome confirmed Del(1)(p31p32) Orphanet:401986 Orphanet MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym monosomy 1p31p32 monosomy 1p31p32 Monosomy 1p31p32 Orphanet:401986 1p31p32 microdeletion syndrome confirmed monosomy 1p31p32 Orphanet:401986 Orphanet MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency oio:hasExactSynonym XY sex reversal-adrenal failure Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency confirmed XY sex reversal-adrenal failure Orphanet:168558 Orphanet MONDO:0013408 FADD-related immunodeficiency oio:hasExactSynonym FADD-related immunodeficiency Orphanet:306550 FADD-related immunodeficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed FADD-related immunodeficiency Orphanet:306550 Orphanet @@ -104260,7 +101221,6 @@ MONDO:0013678 EDICT syndrome oio:hasExactSynonym familial keratoconus with cata MONDO:0013678 EDICT syndrome oio:hasExactSynonym KTCNCT Orphanet:293936 EDICT syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KTCNCT Orphanet:293936 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 12 autosomal recessive spinocerebellar ataxia type 12 Autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency confirmed autosomal recessive spinocerebellar ataxia type 12 Orphanet:284282 Orphanet MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 oio:hasExactSynonym SCAR12 Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR12 Orphanet:284282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym pigmented hairy Epidermal Nevus pigmented hairy Epidermal Nevus Pigmented hairy epidermal nevus Orphanet:64755 Becker nevus syndrome confirmed pigmented hairy Epidermal Nevus Orphanet:64755 Orphanet MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Brunner-Winter syndrome type 2 Orphanet:391646 Feingold syndrome type 2 confirmed Brunner-Winter syndrome type 2 Orphanet:391646 Orphanet MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym Feingold syndrome type 2 Orphanet:391646 Feingold syndrome type 2 confirmed Feingold syndrome type 2 Orphanet:391646 Orphanet MONDO:0013691 Feingold syndrome type 2 oio:hasExactSynonym MMT type 2 Orphanet:391646 Feingold syndrome type 2 confirmed MMT type 2 Orphanet:391646 Orphanet @@ -104346,8 +101306,8 @@ MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSyn MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSynonym HSAN6 Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSAN6 Orphanet:314381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oio:hasExactSynonym meconium ileus due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency confirmed meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Proximal 16p11.2 microduplication syndrome Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal 16p11.2 microduplication syndrome Orphanet:370079 Orphanet -MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet +MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal trisomy 16p11.2 proximal trisomy 16p11.2 Proximal trisomy 16p11.2 Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal trisomy 16p11.2 Orphanet:370079 Orphanet MONDO:0013851 autosomal dominant aplasia and myelodysplasia oio:hasExactSynonym autosomal dominant aplastic anemia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Autosomal dominant aplasia and myelodysplasia confirmed autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Orphanet MONDO:0013858 pontine tegmental cap dysplasia oio:hasExactSynonym pontine tegmental cap dysplasia pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Orphanet:269229 Pontine tegmental cap dysplasia confirmed pontine tegmental cap dysplasia Orphanet:269229 Orphanet @@ -104443,7 +101403,6 @@ MONDO:0013990 pontocerebellar hypoplasia type 8 oio:hasExactSynonym PCH8 Orph MONDO:0013992 obesity due to leptin receptor gene deficiency oio:hasExactSynonym obesity due to leptin receptor gene deficiency obesity due to leptin receptor gene deficiency Obesity due to leptin receptor gene deficiency Orphanet:179494 Obesity due to leptin receptor gene deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed obesity due to leptin receptor gene deficiency Orphanet:179494 Orphanet MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym pontocerebellar hypoplasia-46,XY disorder of sex development syndrome pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 Pontocerebellar hypoplasia type 7 confirmed pontocerebellar hypoplasia-46,XY disorder of sex development syndrome Orphanet:284339 Orphanet MONDO:0013993 pontocerebellar hypoplasia type 7 oio:hasExactSynonym PCH7 Orphanet:284339 Pontocerebellar hypoplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH7 Orphanet:284339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym Setleis Syndrome Setleis Syndrome Setleis syndrome Orphanet:1807 Focal facial dermal dysplasia type III confirmed Setleis Syndrome Orphanet:1807 Orphanet MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD type II Orphanet:398173 Focal facial dermal dysplasia type II confirmed FFDD type II Orphanet:398173 Orphanet MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym focal facial dermal dysplasia 2, Brauer-Setleis type focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 Focal facial dermal dysplasia type II confirmed focal facial dermal dysplasia 2, Brauer-Setleis type Orphanet:398173 Orphanet MONDO:0013996 focal facial dermal dysplasia type II oio:hasExactSynonym FFDD2 Orphanet:398173 Focal facial dermal dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FFDD2 Orphanet:398173 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -104639,8 +101598,8 @@ MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynon MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym NBIA6 Orphanet:397725 COASY protein-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBIA6 Orphanet:397725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome confirmed 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome confirmed 15q11.2 microdeletion syndrome Orphanet:261183 Orphanet -MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet +MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym monosomy 15q11.2 monosomy 15q11.2 Monosomy 15q11.2 Orphanet:261183 15q11.2 microdeletion syndrome confirmed monosomy 15q11.2 Orphanet:261183 Orphanet MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 57 Orphanet:431329 Autosomal recessive spastic paraplegia type 57 confirmed autosomal recessive spastic paraplegia type 57 Orphanet:431329 Orphanet MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym spastic paraplegia due to partial TFG deficiency spastic paraplegia due to partial TFG deficiency Spastic paraplegia due to partial TFG deficiency Orphanet:431329 Autosomal recessive spastic paraplegia type 57 confirmed spastic paraplegia due to partial TFG deficiency Orphanet:431329 Orphanet @@ -104864,8 +101823,6 @@ MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym progres MONDO:0014685 progressive myoclonic epilepsy type 9 oio:hasExactSynonym EPM9 Orphanet:457265 Progressive myoclonic epilepsy type 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPM9 Orphanet:457265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oio:hasExactSynonym Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 Orphanet MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oio:hasExactSynonym microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome confirmed microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Orphanet:457351 Orphanet -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Au-Kline syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome confirmed Au-Kline syndrome Orphanet:453499 Orphanet -MONDO:0014700 Au-Kline syndrome oio:hasExactSynonym Okamoto syndrome Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome confirmed Okamoto syndrome Orphanet:453499 Orphanet MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym SED, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type confirmed SED, Stanescu type Orphanet:459051 Orphanet MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Orphanet MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B oio:hasExactSynonym AR-SPG9B Orphanet:447760 Autosomal recessive spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AR-SPG9B Orphanet:447760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -104888,8 +101845,8 @@ MONDO:0014722 Roifman syndrome oio:hasExactSynonym Roifman syndrome Orphanet: MONDO:0014722 Roifman syndrome oio:hasExactSynonym spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 Roifman syndrome confirmed spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Orphanet:353298 Orphanet MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym 17p11.2p12 microduplication syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed 17p11.2p12 microduplication syndrome Orphanet:477817 Orphanet MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym Yuan-Harel-Lupski syndrome Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed Yuan-Harel-Lupski syndrome Orphanet:477817 Orphanet -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed dup(17)(p11.2p12) Orphanet:477817 Orphanet MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed dup(17)(p11.2p12) Orphanet:477817 Orphanet +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym dup(17)(p11.2p12) dup(17)(p11.2p12) Dup(17)(p11.2p12) Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed dup(17)(p11.2p12) Orphanet:477817 Orphanet MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2-p12 trisomy 17p11.2-p12 Trisomy 17p11.2-p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed trisomy 17p11.2-p12 Orphanet:477817 Orphanet MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome oio:hasExactSynonym trisomy 17p11.2p12 trisomy 17p11.2p12 Trisomy 17p11.2p12 Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome confirmed trisomy 17p11.2p12 Orphanet:477817 Orphanet MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oio:hasExactSynonym ASCT1 deficiency Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome confirmed ASCT1 deficiency Orphanet:447997 Orphanet @@ -104984,7 +101941,6 @@ MONDO:0014855 intellectual disability, autosomal dominant 42 oio:hasExactSynonym MONDO:0014856 combined oxidative phosphorylation defect type 30 oio:hasExactSynonym COXPD30 Orphanet:478042 Combined oxidative phosphorylation defect type 30 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD30 Orphanet:478042 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart oio:hasExactSynonym rere-related neurodevelopmental syndrome rere-related neurodevelopmental syndrome RERE-related neurodevelopmental syndrome Orphanet:494344 RERE-related neurodevelopmental syndrome confirmed rere-related neurodevelopmental syndrome Orphanet:494344 Orphanet MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym DNAJB2-related CMT2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 confirmed DNAJB2-related CMT2 Orphanet:443950 Orphanet -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym spinocerebellar ataxia type 43 spinocerebellar ataxia type 43 Spinocerebellar ataxia type 43 Orphanet:497764 Spinocerebellar ataxia type 43 confirmed spinocerebellar ataxia type 43 Orphanet:497764 Orphanet MONDO:0014867 spinocerebellar ataxia 43 oio:hasExactSynonym SCA43 Orphanet:497764 Spinocerebellar ataxia type 43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA43 Orphanet:497764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014870 NEK9-related lethal skeletal dysplasia oio:hasExactSynonym lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 NEK9-related lethal skeletal dysplasia confirmed lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome Orphanet:464366 Orphanet @@ -105067,7 +102023,6 @@ MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oi MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym Raas-blocker-induced angioneurotic edema Raas-blocker-induced angioneurotic edema RAAS-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema confirmed Raas-blocker-induced angioneurotic edema Orphanet:100057 Orphanet MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema confirmed renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Orphanet:100057 Orphanet MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAE Orphanet:100057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym RAE Orphanet:673574 Reactive angioendotheliomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAE Orphanet:673574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of PPA Orphanet:100070 Progressive non-fluent aphasia confirmed Agramatic variant of PPA Orphanet:100070 Orphanet MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Agramatic variant of primary progressive aphasia Orphanet:100070 Progressive non-fluent aphasia confirmed Agramatic variant of primary progressive aphasia Orphanet:100070 Orphanet MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym non-fluent variant PPA non-fluent variant PPA Non-fluent variant PPA Orphanet:100070 Progressive non-fluent aphasia confirmed non-fluent variant PPA Orphanet:100070 Orphanet @@ -105102,9 +102057,6 @@ MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus art MONDO:0015104 porphyria cutanea tarda oio:hasExactSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym chronic adrenocorticoid insufficiency chronic adrenocorticoid insufficiency Chronic adrenocorticoid insufficiency Orphanet:101959 Chronic primary adrenal insufficiency confirmed chronic adrenocorticoid insufficiency Orphanet:101959 Orphanet MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym CPAI Orphanet:101959 Chronic primary adrenal insufficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CPAI Orphanet:101959 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym Addison disease Orphanet:85138 Addison disease confirmed Addison disease Orphanet:85138 Orphanet -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune Addison disease autoimmune Addison disease Autoimmune Addison disease Orphanet:85138 Addison disease confirmed autoimmune Addison disease Orphanet:85138 Orphanet -MONDO:0015129 chronic primary adrenal insufficiency oio:hasExactSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease confirmed autoimmune adrenalitis Orphanet:85138 Orphanet MONDO:0015134 constitutional neutropenia oio:hasExactSynonym congenital neutropenia congenital neutropenia Congenital neutropenia Orphanet:101987 Congenital neutropenia confirmed congenital neutropenia Orphanet:101987 Orphanet MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym early-onset familial autosomal dominant Alzheimer disease early-onset familial autosomal dominant Alzheimer disease Early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 Early-onset autosomal dominant Alzheimer disease confirmed early-onset familial autosomal dominant Alzheimer disease Orphanet:1020 Orphanet MONDO:0015140 early-onset autosomal dominant Alzheimer disease oio:hasExactSynonym EOFAD Orphanet:1020 Early-onset autosomal dominant Alzheimer disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EOFAD Orphanet:1020 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -105144,7 +102096,6 @@ MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynony MONDO:0015169 chronic diarrhea due to glucoamylase deficiency oio:hasExactSynonym maltase-glucoamylase deficiency maltase-glucoamylase deficiency Maltase-glucoamylase deficiency Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency confirmed maltase-glucoamylase deficiency Orphanet:103907 Orphanet MONDO:0015170 congenital sodium diarrhea oio:hasExactSynonym Na-H exchange deficiency Orphanet:103908 Congenital sodium diarrhea confirmed Na-H exchange deficiency Orphanet:103908 Orphanet MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015175 autoimmune pancreatitis oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 Metaphyseal anadysplasia confirmed Maroteaux-Verloes-Stanescu syndrome Orphanet:1040 Orphanet MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym regressive metaphyseal dysplasia regressive metaphyseal dysplasia Regressive metaphyseal dysplasia Orphanet:1040 Metaphyseal anadysplasia confirmed regressive metaphyseal dysplasia Orphanet:1040 Orphanet MONDO:0015193 hydrops fetalis oio:hasExactSynonym fetal anasarca fetal anasarca Fetal anasarca Orphanet:1041 Hydrops fetalis confirmed fetal anasarca Orphanet:1041 Orphanet @@ -105206,7 +102157,6 @@ MONDO:0015263 Brugada syndrome oio:hasExactSynonym idiopathic ventricular fibri MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome Orphanet:130 Brugada syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brugada syndrome Orphanet:130 Orphanet MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organizing pneumonia bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia Orphanet:1302 Cryptogenic organizing pneumonia confirmed bronchiolitis obliterans organizing pneumonia Orphanet:1302 Orphanet MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym COP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym BOOP Orphanet:1302 Cryptogenic organizing pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BOOP Orphanet:1302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans confirmed constrictive bronchiolitis Orphanet:1303 Orphanet MONDO:0015267 Feingold syndrome oio:hasExactSynonym Brunner-Winter syndrome Orphanet:1305 Feingold syndrome confirmed Brunner-Winter syndrome Orphanet:1305 Orphanet MONDO:0015267 Feingold syndrome oio:hasExactSynonym MODED syndrome Orphanet:1305 Feingold syndrome confirmed MODED syndrome Orphanet:1305 Orphanet @@ -105305,7 +102255,6 @@ MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:has MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy autosomal recessive distal spinal muscular atrophy Autosomal recessive distal spinal muscular atrophy Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy confirmed autosomal recessive distal spinal muscular atrophy Orphanet:140468 Orphanet MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy Orphanet:140471 Hereditary sensory and autonomic neuropathy confirmed hereditary sensory and autonomic neuropathy Orphanet:140471 Orphanet MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym HSAN Orphanet:140471 Hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSAN Orphanet:140471 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym Joubert syndrome and related disorders Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Joubert syndrome and related disorders Orphanet:140874 Orphanet MONDO:0015369 Joubert syndrome and related disorders oio:hasExactSynonym JSRD Orphanet:140874 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JSRD Orphanet:140874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015374 primary central nervous system vasculitis oio:hasExactSynonym isolated angiitis of the central nervous system isolated angiitis of the central nervous system Isolated angiitis of the central nervous system Orphanet:140989 Primary angiitis of the central nervous system confirmed isolated angiitis of the central nervous system Orphanet:140989 Orphanet @@ -105318,7 +102267,6 @@ MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome Orphanet:140997 Orofaciodigital syndrome confirmed oral-facial-digital syndrome Orphanet:140997 Orphanet MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym orofaciodigital syndrome orofaciodigital syndrome Orofaciodigital syndrome Orphanet:140997 Orofaciodigital syndrome confirmed orofaciodigital syndrome Orphanet:140997 Orphanet MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:140997 Orofaciodigital syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD Orphanet:140997 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym OFD Orphanet:488265 Osteofibrous dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OFD Orphanet:488265 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst Orphanet:141013 First branchial cleft anomaly confirmed first branchial cleft cyst Orphanet:141013 Orphanet MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft fistula first branchial cleft fistula First branchial cleft fistula Orphanet:141013 First branchial cleft anomaly confirmed first branchial cleft fistula Orphanet:141013 Orphanet MONDO:0015377 third branchial cleft anomaly oio:hasExactSynonym third branchial cleft cyst third branchial cleft cyst Third branchial cleft cyst Orphanet:141030 Third branchial cleft anomaly confirmed third branchial cleft cyst Orphanet:141030 Orphanet @@ -105380,8 +102328,8 @@ MONDO:0015430 ring chromosome 1 oio:hasExactSynonym r(1) syndrome Orphanet:14 MONDO:0015436 ring chromosome 20 oio:hasExactSynonym ring chromosome 20 syndrome ring chromosome 20 syndrome Ring chromosome 20 syndrome Orphanet:1444 Ring chromosome 20 syndrome confirmed ring chromosome 20 syndrome Orphanet:1444 Orphanet MONDO:0015438 ring chromosome 22 oio:hasExactSynonym r(22) syndrome Orphanet:1446 Ring chromosome 22 syndrome confirmed r(22) syndrome Orphanet:1446 Orphanet MONDO:0015439 ring chromosome 4 oio:hasExactSynonym r(4) syndrome Orphanet:1447 Ring chromosome 4 syndrome confirmed r(4) syndrome Orphanet:1447 Orphanet -MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) syndrome r(4) Syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet +MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym Ring 8 Orphanet:1450 Ring chromosome 8 syndrome confirmed Ring 8 Orphanet:1450 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym r(8) syndrome Orphanet:1450 Ring chromosome 8 syndrome confirmed r(8) syndrome Orphanet:1450 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym ring chromosome 8 ring chromosome 8 Ring chromosome 8 Orphanet:1450 Ring chromosome 8 syndrome confirmed ring chromosome 8 Orphanet:1450 Orphanet @@ -105407,7 +102355,6 @@ MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym CSS Orphanet:1465 Cof MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome Orphanet:1467 Cogan syndrome confirmed Cogan syndrome Orphanet:1467 Orphanet MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency confirmed multiple carboxylase deficiency Orphanet:148 Orphanet MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oio:hasExactSynonym Da Silva syndrome Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome confirmed Da Silva syndrome Orphanet:1495 Orphanet MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym nasopharyngeal carcinoma nasopharyngeal carcinoma Nasopharyngeal carcinoma Orphanet:150 Nasopharyngeal carcinoma confirmed nasopharyngeal carcinoma Orphanet:150 Orphanet MONDO:0015459 nasopharyngeal carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasopharynx squamous cell carcinoma of the nasopharynx Squamous cell carcinoma of the nasopharynx Orphanet:150 Nasopharyngeal carcinoma confirmed squamous cell carcinoma of the nasopharynx Orphanet:150 Orphanet @@ -105516,7 +102463,6 @@ MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym localized pu MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris confirmed palmoplantar pustulosis Orphanet:163927 Orphanet MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym PPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym LPP Orphanet:525 Lichen planopilaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LPP Orphanet:525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015600 X-linked intellectual disability, Cilliers type oio:hasExactSynonym X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 X-linked intellectual disability, Cilliers type confirmed X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 Orphanet MONDO:0015605 distal monosomy 9p oio:hasExactSynonym distal deletion 9p distal deletion 9p Distal deletion 9p Orphanet:1642 Distal deletion 9p confirmed distal deletion 9p Orphanet:1642 Orphanet MONDO:0015605 distal monosomy 9p oio:hasExactSynonym monosomy 9pter monosomy 9pter Monosomy 9pter Orphanet:1642 Distal deletion 9p confirmed monosomy 9pter Orphanet:1642 Orphanet @@ -105736,12 +102682,10 @@ MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without n MONDO:0015923 acquired peripheral neuropathy oio:hasExactSynonym acquired peripheral neuropathy acquired peripheral neuropathy Acquired peripheral neuropathy Orphanet:182086 Acquired peripheral neuropathy confirmed acquired peripheral neuropathy Orphanet:182086 Orphanet MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym pulmonary arterial hypertension pulmonary arterial hypertension Pulmonary arterial hypertension Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed pulmonary arterial hypertension Orphanet:182090 Orphanet MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:182090 Pulmonary arterial hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PAH Orphanet:182090 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015924 pulmonary arterial hypertension oio:hasExactSynonym PAH Orphanet:99083 Pulmonary artery hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PAH Orphanet:99083 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015925 interstitial lung disease oio:hasExactSynonym interstitial lung disease interstitial lung disease Interstitial lung disease Orphanet:182095 Interstitial lung disease confirmed interstitial lung disease Orphanet:182095 Orphanet MONDO:0015925 interstitial lung disease oio:hasExactSynonym ILD Orphanet:182095 Interstitial lung disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ILD Orphanet:182095 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome oio:hasExactSynonym Finucane-Kurtz-Scott syndrome Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome confirmed Finucane-Kurtz-Scott syndrome Orphanet:1825 Orphanet MONDO:0015942 frontometaphyseal dysplasia oio:hasExactSynonym frontometaphyseal dysplasia frontometaphyseal dysplasia Frontometaphyseal dysplasia Orphanet:1826 Frontometaphyseal dysplasia confirmed frontometaphyseal dysplasia Orphanet:1826 Orphanet -MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym CSS Orphanet:1465 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CSS Orphanet:1465 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym Churg-Strauss syndrome Orphanet:183 Eosinophilic granulomatosis with polyangiitis confirmed Churg-Strauss syndrome Orphanet:183 Orphanet MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym granulomatous allergic angiitis granulomatous allergic angiitis Granulomatous allergic angiitis Orphanet:183 Eosinophilic granulomatosis with polyangiitis confirmed granulomatous allergic angiitis Orphanet:183 Orphanet MONDO:0015943 eosinophilic granulomatosis with polyangiitis oio:hasExactSynonym EGPA Orphanet:183 Eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EGPA Orphanet:183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -105760,7 +102704,6 @@ MONDO:0015987 scimitar syndrome oio:hasExactSynonym congenital pulmonary venolo MONDO:0015987 scimitar syndrome oio:hasExactSynonym hypogenetic lung syndrome hypogenetic lung syndrome Hypogenetic lung syndrome Orphanet:185 Scimitar syndrome confirmed hypogenetic lung syndrome Orphanet:185 Orphanet MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym multicystic renal dysplasia multicystic renal dysplasia Multicystic renal dysplasia Orphanet:1851 Multicystic dysplastic kidney confirmed multicystic renal dysplasia Orphanet:1851 Orphanet MONDO:0015988 multicystic dysplastic kidney oio:hasExactSynonym MCDK Orphanet:1851 Multicystic dysplastic kidney http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCDK Orphanet:1851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym CRD Orphanet:71 Chylomicron retention disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CRD Orphanet:71 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym MSBD syndrome Orphanet:1879 Melorheostosis with osteopoikilosis confirmed MSBD syndrome Orphanet:1879 Orphanet MONDO:0015995 melorheostosis with osteopoikilosis oio:hasExactSynonym mixed sclerosing bone dystrophy mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy Orphanet:1879 Melorheostosis with osteopoikilosis confirmed mixed sclerosing bone dystrophy Orphanet:1879 Orphanet MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome oio:hasExactSynonym noble-Bass-Sherman syndrome noble-Bass-Sherman syndrome Noble-Bass-Sherman syndrome Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome confirmed noble-Bass-Sherman syndrome Orphanet:1884 Orphanet @@ -105829,7 +102772,6 @@ MONDO:0016045 tetragametic chimerism oio:hasExactSynonym 46,XX/46,XY chimerism MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 Cleft lip-retinopathy syndrome confirmed Ausems-Wittebol Post-Hennekam syndrome Orphanet:1995 Orphanet MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-cone rod dystrophy syndrome cleft lip-cone rod dystrophy syndrome Cleft lip-cone rod dystrophy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome confirmed cleft lip-cone rod dystrophy syndrome Orphanet:1995 Orphanet MONDO:0016051 cleft lip-retinopathy syndrome oio:hasExactSynonym cleft lip-progressive retinopathy syndrome cleft lip-progressive retinopathy syndrome Cleft lip-progressive retinopathy syndrome Orphanet:1995 Cleft lip-retinopathy syndrome confirmed cleft lip-progressive retinopathy syndrome Orphanet:1995 Orphanet -MONDO:0016056 isolated congenital microcephaly oio:hasExactSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly confirmed true microcephaly Orphanet:2512 Orphanet MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome oio:hasExactSynonym Lowry-Yong syndrome Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome confirmed Lowry-Yong syndrome Orphanet:2003 Orphanet MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Orphanet:2004 Laryngotracheoesophageal cleft confirmed laryngo-tracheo-esophageal cleft Orphanet:2004 Orphanet MONDO:0016060 laryngotracheoesophageal cleft oio:hasExactSynonym laryngo-tracheo-esophageal diastema laryngo-tracheo-esophageal diastema Laryngo-tracheo-esophageal diastema Orphanet:2004 Laryngotracheoesophageal cleft confirmed laryngo-tracheo-esophageal diastema Orphanet:2004 Orphanet @@ -105866,8 +102808,6 @@ MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency oio:hasE MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, classic form Orphanet:206436 Infantile Krabbe disease confirmed Krabbe disease, classic form Orphanet:206436 Orphanet MONDO:0016089 infantile Krabbe disease oio:hasExactSynonym Krabbe disease, early-onset Orphanet:206436 Infantile Krabbe disease confirmed Krabbe disease, early-onset Orphanet:206436 Orphanet MONDO:0016090 late-infantile/juvenile Krabbe disease oio:hasExactSynonym Krabbe disease, late-onset Orphanet:206443 Late-infantile/juvenile Krabbe disease confirmed Krabbe disease, late-onset Orphanet:206443 Orphanet -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym serous cystadenoma of ovary in childhood serous cystadenoma of ovary in childhood Serous cystadenoma of ovary in childhood Orphanet:563666 Serous cystadenoma of childhood confirmed serous cystadenoma of ovary in childhood Orphanet:563666 Orphanet -MONDO:0016092 serous or mucinous cystadenoma of childhood oio:hasExactSynonym mucinous cystadenoma of ovary in childhood mucinous cystadenoma of ovary in childhood Mucinous cystadenoma of ovary in childhood Orphanet:563671 Mucinous cystadenoma of childhood confirmed mucinous cystadenoma of ovary in childhood Orphanet:563671 Orphanet MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym vaginal germ cell cancer vaginal germ cell cancer Vaginal germ cell cancer Orphanet:206489 Malignant germ cell tumor of the vagina confirmed vaginal germ cell cancer Orphanet:206489 Orphanet MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary oio:hasExactSynonym non-dysgerminomatous germ cell cancer of ovary non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary confirmed non-dysgerminomatous germ cell cancer of ovary Orphanet:206538 Orphanet MONDO:0016098 immune-mediated necrotizing myopathy oio:hasExactSynonym anti-HMG-CoA myopathy anti-HMG-CoA myopathy Anti-HMG-CoA myopathy Orphanet:206569 Immune-mediated necrotizing myopathy confirmed anti-HMG-CoA myopathy Orphanet:206569 Orphanet @@ -105886,16 +102826,12 @@ MONDO:0016105 acquired skeletal muscle disease oio:hasExactSynonym acquired ske MONDO:0016106 progressive muscular dystrophy oio:hasExactSynonym progressive muscular dystrophy progressive muscular dystrophy Progressive muscular dystrophy Orphanet:206644 Progressive muscular dystrophy http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed progressive muscular dystrophy Orphanet:206644 Orphanet MONDO:0016112 hereditary inclusion-body myopathy oio:hasExactSynonym inclusion myopathy inclusion myopathy Inclusion myopathy Orphanet:206662 Inclusion myopathy confirmed inclusion myopathy Orphanet:206662 Orphanet MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym bulbospinal muscular atrophy bulbospinal muscular atrophy Bulbospinal muscular atrophy Orphanet:206701 Bulbospinal muscular atrophy confirmed bulbospinal muscular atrophy Orphanet:206701 Orphanet -MONDO:0016113 bulbospinal muscular atrophy oio:hasExactSynonym SBMA Orphanet:481 Kennedy disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SBMA Orphanet:481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016122 periodic paralysis oio:hasExactSynonym periodic paralysis periodic paralysis Periodic paralysis Orphanet:206976 Periodic paralysis confirmed periodic paralysis Orphanet:206976 Orphanet MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic enteritis eosinophilic enteritis Eosinophilic enteritis Orphanet:2070 Eosinophilic gastroenteritis confirmed eosinophilic enteritis Orphanet:2070 Orphanet MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenteritis eosinophilic gastroenteritis Eosinophilic gastroenteritis Orphanet:2070 Eosinophilic gastroenteritis confirmed eosinophilic gastroenteritis Orphanet:2070 Orphanet MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym eosinophilic gastroenterocolitis eosinophilic gastroenterocolitis Eosinophilic gastroenterocolitis Orphanet:2070 Eosinophilic gastroenteritis confirmed eosinophilic gastroenterocolitis Orphanet:2070 Orphanet MONDO:0016129 eosinophilic gastroenteritis oio:hasExactSynonym EGE Orphanet:2070 Eosinophilic gastroenteritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EGE Orphanet:2070 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016140 sarcoglycanopathy oio:hasExactSynonym qualitative or quantitative defects of sarcoglycan qualitative or quantitative defects of sarcoglycan Qualitative or quantitative defects of sarcoglycan Orphanet:207052 Qualitative or quantitative defects of sarcoglycan confirmed qualitative or quantitative defects of sarcoglycan Orphanet:207052 Orphanet -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan oio:hasExactSynonym alpha-sarcoglycanopathy alpha-sarcoglycanopathy Alpha-sarcoglycanopathy Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 confirmed alpha-sarcoglycanopathy Orphanet:62 Orphanet -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan oio:hasExactSynonym beta-sarcoglycanopathy beta-sarcoglycanopathy Beta-sarcoglycanopathy Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 confirmed beta-sarcoglycanopathy Orphanet:119 Orphanet -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan oio:hasExactSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 confirmed delta-sarcoglycanopathy Orphanet:219 Orphanet MONDO:0016145 qualitative or quantitative defects of dysferlin oio:hasExactSynonym dysferlinopathy dysferlinopathy Dysferlinopathy Orphanet:207073 Qualitative or quantitative defects of dysferlin confirmed dysferlinopathy Orphanet:207073 Orphanet MONDO:0016146 caveolinopathy oio:hasExactSynonym qualitative or quantitative defects of caveolin-3 qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of caveolin-3 Orphanet:207078 Qualitative or quantitative defects of caveolin-3 confirmed qualitative or quantitative defects of caveolin-3 Orphanet:207078 Orphanet MONDO:0016147 qualitative or quantitative defects of dystrophin oio:hasExactSynonym dystrophinopathy dystrophinopathy Dystrophinopathy Orphanet:207085 Qualitative or quantitative defects of dystrophin confirmed dystrophinopathy Orphanet:207085 Orphanet @@ -106148,19 +103084,19 @@ MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym pi MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym trichodysplasia spinulosa trichodysplasia spinulosa Trichodysplasia spinulosa Orphanet:228379 Virus-associated trichodysplasia spinulosa confirmed trichodysplasia spinulosa Orphanet:228379 Orphanet MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym TS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016455 virus-associated trichodysplasia spinulosa oio:hasExactSynonym VATS Orphanet:228379 Virus-associated trichodysplasia spinulosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VATS Orphanet:228379 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome confirmed Del(5)(q14.3) Orphanet:228384 Orphanet MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Del(5)(q14.3) del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome confirmed Del(5)(q14.3) Orphanet:228384 Orphanet +MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym Del(5)(q14.3) Orphanet:228384 5q14.3 microdeletion syndrome confirmed Del(5)(q14.3) Orphanet:228384 Orphanet MONDO:0016456 5q14.3 microdeletion syndrome oio:hasExactSynonym monosomy 5q14.3 monosomy 5q14.3 Monosomy 5q14.3 Orphanet:228384 5q14.3 microdeletion syndrome confirmed monosomy 5q14.3 Orphanet:228384 Orphanet MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) dup(8)(q12) Dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome confirmed dup(8)(q12) Orphanet:228399 Orphanet MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym dup(8)(q12) Orphanet:228399 8q12 microduplication syndrome confirmed dup(8)(q12) Orphanet:228399 Orphanet MONDO:0016458 8q12 microduplication syndrome oio:hasExactSynonym trisomy 8q12 trisomy 8q12 Trisomy 8q12 Orphanet:228399 8q12 microduplication syndrome confirmed trisomy 8q12 Orphanet:228399 Orphanet -MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome confirmed Del(2)(q23.1) Orphanet:228402 Orphanet MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome confirmed Del(2)(q23.1) Orphanet:228402 Orphanet +MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) Del(2)(q23.1) del(2)(q23.1) Orphanet:228402 2q23.1 microdeletion syndrome confirmed Del(2)(q23.1) Orphanet:228402 Orphanet MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q23.1 monosomy 2q23.1 Monosomy 2q23.1 Orphanet:228402 2q23.1 microdeletion syndrome confirmed monosomy 2q23.1 Orphanet:228402 Orphanet MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym pseudo-Angelman syndrome pseudo-Angelman syndrome Pseudo-Angelman syndrome Orphanet:228402 2q23.1 microdeletion syndrome confirmed pseudo-Angelman syndrome Orphanet:228402 Orphanet MONDO:0016460 polyvalvular heart disease syndrome oio:hasExactSynonym PHD syndrome Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome confirmed PHD syndrome Orphanet:228410 Orphanet -MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet +MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym trisomy 5q35 trisomy 5q35 Trisomy 5q35 Orphanet:228415 5q35 microduplication syndrome confirmed trisomy 5q35 Orphanet:228415 Orphanet MONDO:0016462 isolated agammaglobulinemia oio:hasExactSynonym isolated hypogammaglobulinemia isolated hypogammaglobulinemia Isolated hypogammaglobulinemia Orphanet:229717 Isolated agammaglobulinemia confirmed isolated hypogammaglobulinemia Orphanet:229717 Orphanet MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym syndromic agammaglobulinemia syndromic agammaglobulinemia Syndromic agammaglobulinemia Orphanet:229720 Syndromic agammaglobulinemia confirmed syndromic agammaglobulinemia Orphanet:229720 Orphanet @@ -106179,8 +103115,8 @@ MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym rhabdoid tumor predis MONDO:0016473 familial rhabdoid tumor oio:hasExactSynonym RTPS Orphanet:231108 Rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RTPS Orphanet:231108 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016474 drug-induced lupus erythematosus oio:hasExactSynonym DILE Orphanet:231111 Drug-induced lupus erythematosus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DILE Orphanet:231111 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to 7p11.2-p13 microduplication Orphanet:231137 Orphanet -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Orphanet MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Orphanet +MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to dup(7)(p11.2p13) silver-russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to dup(7)(p11.2p13) Orphanet:231137 Orphanet MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to trisomy 7p11.2-p13 Orphanet:231137 Orphanet MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication oio:hasExactSynonym Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication confirmed Silver-Russell syndrome due to trisomy 7p11.2p13 Orphanet:231137 Orphanet MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oio:hasExactSynonym UPD(11)mat Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 confirmed UPD(11)mat Orphanet:231147 Orphanet @@ -106286,7 +103222,6 @@ MONDO:0016571 macrocephaly-short stature-paraplegia syndrome oio:hasExactSynonym MONDO:0016573 acute fatty liver of pregnancy oio:hasExactSynonym AFLP Orphanet:243367 Acute fatty liver of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AFLP Orphanet:243367 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oio:hasExactSynonym Westerhof-Beemer-Cormane syndrome Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome confirmed Westerhof-Beemer-Cormane syndrome Orphanet:2435 Orphanet MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016575 primary ciliary dyskinesia oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016576 split hand-foot malformation oio:hasExactSynonym ectrodactyly ectrodactyly Ectrodactyly Orphanet:2440 Isolated split hand-split foot malformation confirmed ectrodactyly Orphanet:2440 Orphanet MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split hand foot malformation split hand foot malformation Split hand foot malformation Orphanet:2440 Isolated split hand-split foot malformation confirmed split hand foot malformation Orphanet:2440 Orphanet MONDO:0016576 split hand-foot malformation oio:hasExactSynonym SHFM Orphanet:2440 Isolated split hand-split foot malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SHFM Orphanet:2440 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -106361,7 +103296,6 @@ MONDO:0016643 frontonasal dysplasia oio:hasExactSynonym median cleft face syndr MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic primary progressive aphasia Orphanet:250831 Logopenic progressive aphasia confirmed Logopenic primary progressive aphasia Orphanet:250831 Orphanet MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym Logopenic variant PPA Orphanet:250831 Logopenic progressive aphasia confirmed Logopenic variant PPA Orphanet:250831 Orphanet MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:250831 Logopenic progressive aphasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LPA Orphanet:250831 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016644 logopenic progressive aphasia oio:hasExactSynonym LPA Orphanet:658574 Isolated pulmonary artery sling http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LPA Orphanet:658574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia confirmed Polyepiphyseal dysplasia Orphanet:251 Orphanet MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym polyepiphyseal dysplasia polyepiphyseal dysplasia Polyepiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia confirmed polyepiphyseal dysplasia Orphanet:251 Orphanet MONDO:0016648 multiple epiphyseal dysplasia oio:hasExactSynonym multiple epiphyseal dysplasia multiple epiphyseal dysplasia Multiple epiphyseal dysplasia Orphanet:251 Multiple epiphyseal dysplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple epiphyseal dysplasia Orphanet:251 Orphanet @@ -106372,23 +103306,23 @@ MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome micro s MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym WARBM Orphanet:2510 Micro syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WARBM Orphanet:2510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016650 paternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)pat Orphanet:251004 Paternal uniparental disomy of chromosome 1 confirmed UPD(1)pat Orphanet:251004 Orphanet MONDO:0016651 maternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)mat Orphanet:251009 Maternal uniparental disomy of chromosome 1 confirmed UPD(1)mat Orphanet:251009 Orphanet -MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet +MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q31.1 monosomy 2q31.1 Monosomy 2q31.1 Orphanet:251014 2q31.1 microdeletion syndrome confirmed monosomy 2q31.1 Orphanet:251014 Orphanet -MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Del(2)(q33.1) del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet +MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q33.1 monosomy 2q33.1 Monosomy 2q33.1 Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed monosomy 2q33.1 Orphanet:251028 Orphanet -MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Del(6)(p22) del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet +MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym monosomy 6p22 monosomy 6p22 Monosomy 6p22 Orphanet:251046 6p22 microdeletion syndrome confirmed monosomy 6p22 Orphanet:251046 Orphanet -MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome confirmed Del(7)(q31) Orphanet:251061 Orphanet MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Del(7)(q31) del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome confirmed Del(7)(q31) Orphanet:251061 Orphanet +MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome confirmed Del(7)(q31) Orphanet:251061 Orphanet MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym monosomy 7q31 monosomy 7q31 Monosomy 7q31 Orphanet:251061 7q31 microdeletion syndrome confirmed monosomy 7q31 Orphanet:251061 Orphanet MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Del(8)(p11.2) del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome confirmed Del(8)(p11.2) Orphanet:251066 Orphanet MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome confirmed Del(8)(p11.2) Orphanet:251066 Orphanet MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym monosomy 8p11.2 monosomy 8p11.2 Monosomy 8p11.2 Orphanet:251066 8p11.2 deletion syndrome confirmed monosomy 8p11.2 Orphanet:251066 Orphanet -MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Del(8)(p23.1) del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet +MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym monosomy 8p23.1 monosomy 8p23.1 Monosomy 8p23.1 Orphanet:251071 8p23.1 microdeletion syndrome confirmed monosomy 8p23.1 Orphanet:251071 Orphanet MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) dup(8)(p23.1p23.1) Dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome confirmed dup(8)(p23.1p23.1) Orphanet:251076 Orphanet MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome confirmed dup(8)(p23.1p23.1) Orphanet:251076 Orphanet @@ -106498,10 +103432,10 @@ MONDO:0016776 frontal fibrosing alopecia oio:hasExactSynonym FFA Orphanet:254 MONDO:0016777 inhalational botulism oio:hasExactSynonym inhalation botulism inhalation botulism Inhalation botulism Orphanet:254504 Inhalational botulism confirmed inhalation botulism Orphanet:254504 Orphanet MONDO:0016778 iatrogenic botulism oio:hasExactSynonym inadvertent botulism inadvertent botulism Inadvertent botulism Orphanet:254509 Iatrogenic botulism confirmed inadvertent botulism Orphanet:254509 Orphanet MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect oio:hasExactSynonym Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome confirmed Kagami-Ogata syndrome Orphanet:254519 Orphanet -MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion confirmed paternal del(14)(q32.2) Orphanet:254525 Orphanet MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion confirmed paternal del(14)(q32.2) Orphanet:254525 Orphanet -MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet +MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion confirmed paternal del(14)(q32.2) Orphanet:254525 Orphanet MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) maternal del(14)(q32.2) Maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet +MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal monosomy 14q32.2 maternal monosomy 14q32.2 Maternal monosomy 14q32.2 Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal monosomy 14q32.2 Orphanet:254528 Orphanet MONDO:0016785 complete hydatidiform mole oio:hasExactSynonym complete molar pregnancy complete molar pregnancy Complete molar pregnancy Orphanet:254688 Complete hydatidiform mole confirmed complete molar pregnancy Orphanet:254688 Orphanet MONDO:0016786 partial hydatidiform mole oio:hasExactSynonym incomplete hydatidiform mole incomplete hydatidiform mole Incomplete hydatidiform mole Orphanet:254693 Partial hydatidiform mole confirmed incomplete hydatidiform mole Orphanet:254693 Orphanet @@ -106539,8 +103473,8 @@ MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreif MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym EDMD Orphanet:261 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EDMD Orphanet:261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016831 linear verrucous nevus syndrome oio:hasExactSynonym linear hamartoma syndrome linear hamartoma syndrome Linear hamartoma syndrome Orphanet:2611 Linear verrucous nevus syndrome confirmed linear hamartoma syndrome Orphanet:2611 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym Dup7q11.23D Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed Dup7q11.23D Orphanet:261102 Orphanet -MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) distal dup(7)(q11.23) Distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet +MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal trisomy 7q11.23 distal trisomy 7q11.23 Distal trisomy 7q11.23 Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal trisomy 7q11.23 Orphanet:261102 Orphanet MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed Del(14)(q12) Orphanet:261144 Orphanet MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Del(14)(q12) del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed Del(14)(q12) Orphanet:261144 Orphanet @@ -106548,23 +103482,23 @@ MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym monosomy 14q12 m MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) dup(16)(p11.2p12.2) Dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed dup(16)(p11.2p12.2) Orphanet:261204 Orphanet MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed dup(16)(p11.2p12.2) Orphanet:261204 Orphanet MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym trisomy 16p11.2p12.2 trisomy 16p11.2p12.2 Trisomy 16p11.2p12.2 Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed trisomy 16p11.2p12.2 Orphanet:261204 Orphanet -MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet +MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym trisomy 14q11.2 trisomy 14q11.2 Trisomy 14q11.2 Orphanet:261229 14q11.2 microduplication syndrome confirmed trisomy 14q11.2 Orphanet:261229 Orphanet -MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Del(16)(p13.11) del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet +MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym monosomy 16p13.11 monosomy 16p13.11 Monosomy 16p13.11 Orphanet:261236 16p13.11 microdeletion syndrome confirmed monosomy 16p13.11 Orphanet:261236 Orphanet MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome confirmed dup(16)(p13.11) Orphanet:261243 Orphanet MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) dup(16)(p13.11) Dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome confirmed dup(16)(p13.11) Orphanet:261243 Orphanet MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym trisomy 16p13.11 trisomy 16p13.11 Trisomy 16p13.11 Orphanet:261243 16p13.11 microduplication syndrome confirmed trisomy 16p13.11 Orphanet:261243 Orphanet -MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Del(16)(q24.3) del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet +MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.3 monosomy 16q24.3 Monosomy 16q24.3 Orphanet:261250 16q24.3 microdeletion syndrome confirmed monosomy 16q24.3 Orphanet:261250 Orphanet MONDO:0016839 distal 17p13.3 microdeletion syndrome oio:hasExactSynonym distal monosomy 17p13.3 distal monosomy 17p13.3 Distal monosomy 17p13.3 Orphanet:261257 Distal 17p13.3 microdeletion syndrome confirmed distal monosomy 17p13.3 Orphanet:261257 Orphanet MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) Orphanet:261290 Trisomy 17p confirmed dup(17p) Orphanet:261290 Orphanet MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) dup(17p) Dup(17p) Orphanet:261290 Trisomy 17p confirmed dup(17p) Orphanet:261290 Orphanet -MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome confirmed Del(20)(p12.3) Orphanet:261295 Orphanet MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Del(20)(p12.3) del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome confirmed Del(20)(p12.3) Orphanet:261295 Orphanet +MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym Del(20)(p12.3) Orphanet:261295 20p12.3 microdeletion syndrome confirmed Del(20)(p12.3) Orphanet:261295 Orphanet MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym monosomy 20p12.3 monosomy 20p12.3 Monosomy 20p12.3 Orphanet:261295 20p12.3 microdeletion syndrome confirmed monosomy 20p12.3 Orphanet:261295 Orphanet MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome confirmed paternal del(20)(q13.2q13.3) Orphanet:261304 Orphanet MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) paternal del(20)(q13.2q13.3) Paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome confirmed paternal del(20)(q13.2q13.3) Orphanet:261304 Orphanet @@ -106573,18 +103507,18 @@ MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.3 MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome confirmed Del(20)(q13.33) Orphanet:261311 Orphanet MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym monosomy 20q13.33 monosomy 20q13.33 Monosomy 20q13.33 Orphanet:261311 20q13.33 microdeletion syndrome confirmed monosomy 20q13.33 Orphanet:261311 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym Duplication of 20p Orphanet:261318 Trisomy 20p confirmed Duplication of 20p Orphanet:261318 Orphanet -MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p confirmed dup(20p) Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) dup(20p) Dup(20p) Orphanet:261318 Trisomy 20p confirmed dup(20p) Orphanet:261318 Orphanet +MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) Orphanet:261318 Trisomy 20p confirmed dup(20p) Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of chromosome 20p partial duplication of chromosome 20p Partial duplication of chromosome 20p Orphanet:261318 Trisomy 20p confirmed partial duplication of chromosome 20p Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of the short arm of chromosome 20 partial duplication of the short arm of chromosome 20 Partial duplication of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p confirmed partial duplication of the short arm of chromosome 20 Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of chromosome 20p partial trisomy of chromosome 20p Partial trisomy of chromosome 20p Orphanet:261318 Trisomy 20p confirmed partial trisomy of chromosome 20p Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of the short arm of chromosome 20 partial trisomy of the short arm of chromosome 20 Partial trisomy of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p confirmed partial trisomy of the short arm of chromosome 20 Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym trisomy 20p trisomy 20p Trisomy 20p Orphanet:261318 Trisomy 20p confirmed trisomy 20p Orphanet:261318 Orphanet -MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet +MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym monosomy 21q22.11q22.12 monosomy 21q22.11q22.12 Monosomy 21q22.11q22.12 Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed monosomy 21q22.11q22.12 Orphanet:261323 Orphanet -MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) distal dup(22)(q11.2) Distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet +MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal trisomy 22q11.2 distal trisomy 22q11.2 Distal trisomy 22q11.2 Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal trisomy 22q11.2 Orphanet:261337 Orphanet MONDO:0016847 trisomy 1q oio:hasExactSynonym Duplication 1q Orphanet:261344 Trisomy 1q confirmed Duplication 1q Orphanet:261344 Orphanet MONDO:0016848 juvenile temporal arteritis oio:hasExactSynonym non-giant cell granulomatous temporal arteritis with eosinophilia non-giant cell granulomatous temporal arteritis with eosinophilia Non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Juvenile temporal arteritis confirmed non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Orphanet @@ -106601,17 +103535,17 @@ MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hi MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Orphanet -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Orphanet +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Orphanet MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation oio:hasExactSynonym Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation confirmed Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym FAP due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed FAP due to monosomy 5q22.2 Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym colorectal adenomatous polyposis due to monosomy 5q22.2 colorectal adenomatous polyposis due to monosomy 5q22.2 Colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Orphanet -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to monosomy 5q22.2 familial adenomatous polyposis due to monosomy 5q22.2 Familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial polyposis coli due to monosomy 5q22.2 familial polyposis coli due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Orphanet -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Alagille syndrome due to del(20)(p12) alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to monosomy 20p12 Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Orphanet @@ -106621,8 +103555,8 @@ MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym syndromic bile duct paucity due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation Syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation confirmed syndromic bile duct paucity due to a JAG1 point mutation Orphanet:261619 Orphanet MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym Alagille syndrome due to a JAG1 point mutation Orphanet:261619 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Alagille syndrome due to a JAG1 point mutation Orphanet:261619 Orphanet MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion confirmed Duane-radial ray syndrome due to monosomy 20q13 Orphanet:261638 Orphanet -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion confirmed Okihiro syndrome due to del(20)(q13) Orphanet:261638 Orphanet MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion confirmed Okihiro syndrome due to del(20)(q13) Orphanet:261638 Orphanet +MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to del(20)(q13) okihiro syndrome due to del(20)(q13) Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion confirmed Okihiro syndrome due to del(20)(q13) Orphanet:261638 Orphanet MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion oio:hasExactSynonym Okihiro syndrome due to monosomy 20q13 Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion confirmed Okihiro syndrome due to monosomy 20q13 Orphanet:261638 Orphanet MONDO:0016864 Okihiro syndrome due to a point mutation oio:hasExactSynonym Duane-radial ray syndrome due to a point mutation Orphanet:261647 Okihiro syndrome due to a point mutation confirmed Duane-radial ray syndrome due to a point mutation Orphanet:261647 Orphanet MONDO:0016866 partial deletion of chromosome 1 oio:hasExactSynonym partial monosomy of chromosome 1 partial monosomy of chromosome 1 Partial monosomy of chromosome 1 Orphanet:261766 Partial deletion of chromosome 1 confirmed partial monosomy of chromosome 1 Orphanet:261766 Orphanet @@ -106856,7 +103790,6 @@ MONDO:0016984 nevus of Ota oio:hasExactSynonym Nevus fusculoceruleus ophthalmom MONDO:0016985 nevus of Ito oio:hasExactSynonym nevus fuscocaeruleus acromiodeltoideus nevus fuscocaeruleus acromiodeltoideus Nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 Nevus of Ito confirmed nevus fuscocaeruleus acromiodeltoideus Orphanet:263432 Orphanet MONDO:0016988 hyperinsulinism due to HNF4A deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to HNF4A deficiency hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency confirmed hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455 Orphanet MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016989 Fuchs heterochromic iridocyclitis oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired hypoprothrombinemia acquired hypoprothrombinemia Acquired hypoprothrombinemia Orphanet:26348 Acquired prothrombin deficiency confirmed acquired hypoprothrombinemia Orphanet:26348 Orphanet MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym acquired prothrombin deficiency acquired prothrombin deficiency Acquired prothrombin deficiency Orphanet:26348 Acquired prothrombin deficiency confirmed acquired prothrombin deficiency Orphanet:26348 Orphanet MONDO:0016991 acute necrotizing encephalopathy of childhood oio:hasExactSynonym isolated ANE isolated ANE Isolated ANE Orphanet:263524 Acute necrotizing encephalopathy of childhood confirmed isolated ANE Orphanet:263524 Orphanet @@ -106880,7 +103813,6 @@ MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSy MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial duplication of chromosome 1p partial duplication of chromosome 1p Partial duplication of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 confirmed partial duplication of chromosome 1p Orphanet:264431 Orphanet MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial trisomy of chromosome 1p partial trisomy of chromosome 1p Partial trisomy of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 confirmed partial trisomy of chromosome 1p Orphanet:264431 Orphanet MONDO:0017013 trisomy 8p oio:hasExactSynonym Duplication 8p Orphanet:264450 Trisomy 8p confirmed Duplication 8p Orphanet:264450 Orphanet -MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym chILD syndrome chILD syndrome CHILD syndrome Orphanet:139 CHILD syndrome confirmed chILD syndrome Orphanet:139 Orphanet MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym ILD specific to childhood Orphanet:264656 Interstitial lung disease specific to childhood confirmed ILD specific to childhood Orphanet:264656 Orphanet MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary ILD specific to childhood primary ILD specific to childhood Primary ILD specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood confirmed primary ILD specific to childhood Orphanet:264665 Orphanet MONDO:0017015 primary interstitial lung disease specific to childhood oio:hasExactSynonym primary interstitial lung disease specific to childhood primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood Orphanet:264665 Primary interstitial lung disease specific to childhood confirmed primary interstitial lung disease specific to childhood Orphanet:264665 Orphanet @@ -106979,11 +103911,10 @@ MONDO:0017176 Machado-Joseph disease type 3 oio:hasExactSynonym spinocerebellar MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome oio:hasExactSynonym HHML Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHML Orphanet:276280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym König disease Orphanet:2764 Osteochondritis dissecans confirmed König disease Orphanet:2764 Orphanet MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis dissecans Orphanet:2764 Osteochondritis dissecans confirmed osteochondritis dissecans Orphanet:2764 Orphanet -MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet +MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym trisomy 10q22.3q23.3 trisomy 10q22.3q23.3 Trisomy 10q22.3q23.3 Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed trisomy 10q22.3q23.3 Orphanet:276422 Orphanet MONDO:0017181 hypnic headache oio:hasExactSynonym hypnic headache hypnic headache Hypnic headache Orphanet:276429 Hypnic headache confirmed hypnic headache Orphanet:276429 Orphanet -MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:263479 Fuchs heterochromic iridocyclitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHI Orphanet:263479 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym familial hyperinsulinemic hypoglycemia familial hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia Orphanet:276525 Familial hyperinsulinism confirmed familial hyperinsulinemic hypoglycemia Orphanet:276525 Orphanet MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym FHI Orphanet:276525 Familial hyperinsulinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FHI Orphanet:276525 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017183 hyperinsulinism due to UCP2 deficiency oio:hasExactSynonym hyperinsulinemic hypoglycemia due to UCP2 deficiency hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 Hyperinsulinism due to UCP2 deficiency confirmed hyperinsulinemic hypoglycemia due to UCP2 deficiency Orphanet:276556 Orphanet @@ -107028,8 +103959,8 @@ MONDO:0017227 autoimmune pancreatitis type 1 oio:hasExactSynonym lymphoplasmacy MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym AIP type 2 Orphanet:280315 Autoimmune pancreatitis type 2 confirmed AIP type 2 Orphanet:280315 Orphanet MONDO:0017228 autoimmune pancreatitis type 2 oio:hasExactSynonym duct-centric pancreatitis duct-centric pancreatitis Duct-centric pancreatitis Orphanet:280315 Autoimmune pancreatitis type 2 confirmed duct-centric pancreatitis Orphanet:280315 Orphanet MONDO:0017229 distal monosomy 12p oio:hasExactSynonym 12p13.33 microdeletion syndrome Orphanet:280325 Distal deletion 12p confirmed 12p13.33 microdeletion syndrome Orphanet:280325 Orphanet -MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p confirmed Del(12)(p13.33) Orphanet:280325 Orphanet MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Orphanet:280325 Distal deletion 12p confirmed Del(12)(p13.33) Orphanet:280325 Orphanet +MONDO:0017229 distal monosomy 12p oio:hasExactSynonym Del(12)(p13.33) Del(12)(p13.33) del(12)(p13.33) Orphanet:280325 Distal deletion 12p confirmed Del(12)(p13.33) Orphanet:280325 Orphanet MONDO:0017229 distal monosomy 12p oio:hasExactSynonym distal deletion 12p distal deletion 12p Distal deletion 12p Orphanet:280325 Distal deletion 12p confirmed distal deletion 12p Orphanet:280325 Orphanet MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oio:hasExactSynonym IDMDC Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IDMDC Orphanet:280384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017238 hemoglobinopathy Toms River oio:hasExactSynonym transient neonatal cyanosis and anemia due to Toms River Hemoglobin transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 Hemoglobinopathy Toms River confirmed transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615 Orphanet @@ -107081,14 +104012,13 @@ MONDO:0017277 partial deletion of chromosome 12 oio:hasExactSynonym partial mon MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Orphanet:282196 Autoimmune polyendocrinopathy confirmed autoimmune polyendocrinopathy Orphanet:282196 Orphanet MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome Orphanet:282196 Autoimmune polyendocrinopathy confirmed autoimmune polyglandular syndrome Orphanet:282196 Orphanet MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym APS Orphanet:282196 Autoimmune polyendocrinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed APS Orphanet:282196 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome Orphanet:80 Antiphospholipid syndrome confirmed Antiphospholipid Syndrome Orphanet:80 Orphanet MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym early-onset Parkinson disease early-onset Parkinson disease Early-onset Parkinson disease Orphanet:2828 Young-onset Parkinson disease confirmed early-onset Parkinson disease Orphanet:2828 Orphanet MONDO:0017279 young-onset Parkinson disease oio:hasExactSynonym YOPD Orphanet:2828 Young-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed YOPD Orphanet:2828 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis Orphanet:283 Demodicidosis confirmed Demodicosis Orphanet:283 Orphanet MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis confirmed Echinococcus multilocularis infection Orphanet:284 Orphanet MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym 10p12p11 microdeletion syndrome Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed 10p12p11 microdeletion syndrome Orphanet:284169 Orphanet -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed Del(10)(p11.21p12.31) Orphanet:284169 Orphanet MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Del(10)(p11.21p12.31) del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed Del(10)(p11.21p12.31) Orphanet:284169 Orphanet +MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym Del(10)(p11.21p12.31) Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed Del(10)(p11.21p12.31) Orphanet:284169 Orphanet MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym deletion 10p11.21p12.31 deletion 10p11.21p12.31 Deletion 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed deletion 10p11.21p12.31 Orphanet:284169 Orphanet MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 Orphanet MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:hasExactSynonym monosomy 10p11.21p12.31 monosomy 10p11.21p12.31 Monosomy 10p11.21p12.31 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion confirmed monosomy 10p11.21p12.31 Orphanet:284169 Orphanet @@ -107122,7 +104052,6 @@ MONDO:0017315 short stature-webbed neck-heart disease syndrome oio:hasExactSynon MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oio:hasExactSynonym thong-Douglas-Ferrante syndrome thong-Douglas-Ferrante syndrome Thong-Douglas-Ferrante syndrome Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome confirmed thong-Douglas-Ferrante syndrome Orphanet:2866 Orphanet MONDO:0017318 phakomatosis pigmentovascularis oio:hasExactSynonym phakomatosis pigmentovascularis phakomatosis pigmentovascularis Phakomatosis pigmentovascularis Orphanet:2875 Phakomatosis pigmentovascularis confirmed phakomatosis pigmentovascularis Orphanet:2875 Orphanet MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym HE Orphanet:288 Hereditary elliptocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HE Orphanet:288 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017319 hereditary elliptocytosis oio:hasExactSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis confirmed hereditary ovalocytosis Orphanet:98868 Orphanet MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency oio:hasExactSynonym PEPCK deficiency Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency confirmed PEPCK deficiency Orphanet:2880 Orphanet MONDO:0017324 autosomal recessive hypophosphatemic rickets oio:hasExactSynonym ARHR Orphanet:289176 Autosomal recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ARHR Orphanet:289176 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oio:hasExactSynonym early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 Orphanet @@ -107222,8 +104151,8 @@ MONDO:0017393 blepharophimosis - intellectual disability syndrome oio:hasExactSy MONDO:0017395 fixed pigmented erythema oio:hasExactSynonym fixed drug eruption fixed drug eruption Fixed drug eruption Orphanet:293812 Fixed drug eruption confirmed fixed drug eruption Orphanet:293812 Orphanet MONDO:0017398 3MC syndrome oio:hasExactSynonym Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 3MC syndrome confirmed Malpuech-Michels-Mingarelli-Carnevale syndrome Orphanet:293843 Orphanet MONDO:0017398 3MC syndrome oio:hasExactSynonym craniofacial-ulnar-renal syndrome craniofacial-ulnar-renal syndrome Craniofacial-ulnar-renal syndrome Orphanet:293843 3MC syndrome confirmed craniofacial-ulnar-renal syndrome Orphanet:293843 Orphanet -MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome confirmed distal dup(X)q(28) Orphanet:293939 Orphanet MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) distal dup(x)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome confirmed distal dup(X)q(28) Orphanet:293939 Orphanet +MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal dup(X)q(28) distal dup(X)q(28) Distal dup(X)q(28) Orphanet:293939 Distal Xq28 microduplication syndrome confirmed distal dup(X)q(28) Orphanet:293939 Orphanet MONDO:0017404 distal Xq28 microduplication syndrome oio:hasExactSynonym distal trisomy Xq28 distal trisomy Xq28 Distal trisomy Xq28 Orphanet:293939 Distal Xq28 microduplication syndrome confirmed distal trisomy Xq28 Orphanet:293939 Orphanet MONDO:0017405 1p21.3 microdeletion syndrome oio:hasExactSynonym monosomy 1p21.3 monosomy 1p21.3 Monosomy 1p21.3 Orphanet:293948 1p21.3 microdeletion syndrome confirmed monosomy 1p21.3 Orphanet:293948 Orphanet MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oio:hasExactSynonym hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome confirmed hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet:293967 Orphanet @@ -107242,7 +104171,6 @@ MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym postpoliomyelitis MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Ivemark II syndrome Orphanet:294415 Renal-hepatic-pancreatic dysplasia confirmed Ivemark II syndrome Orphanet:294415 Orphanet MONDO:0017417 renal-hepatic-pancreatic dysplasia oio:hasExactSynonym Renohepaticopancreatic dysplasia Orphanet:294415 Renal-hepatic-pancreatic dysplasia confirmed Renohepaticopancreatic dysplasia Orphanet:294415 Orphanet MONDO:0017418 chronic intestinal failure oio:hasExactSynonym CIF Orphanet:294422 Chronic intestinal failure http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIF Orphanet:294422 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017435 popliteal pterygium syndrome oio:hasExactSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome confirmed facio-genito-popliteal syndrome Orphanet:1300 Orphanet MONDO:0017436 lethal congenital contracture syndrome oio:hasExactSynonym LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym Parvovirus antenatal infection Orphanet:295 Fetal parvovirus syndrome confirmed Parvovirus antenatal infection Orphanet:295 Orphanet MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym mother-to-child transmission of parvovirus syndrome mother-to-child transmission of parvovirus syndrome Mother-to-child transmission of parvovirus syndrome Orphanet:295 Fetal parvovirus syndrome confirmed mother-to-child transmission of parvovirus syndrome Orphanet:295 Orphanet @@ -107489,8 +104417,8 @@ MONDO:0017783 congenital pancreatic cyst oio:hasExactSynonym true congenital pa MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBV-associated gastric carcinoma Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma confirmed EBV-associated gastric carcinoma Orphanet:313920 Orphanet MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma oio:hasExactSynonym EBVaGC Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma confirmed EBVaGC Orphanet:313920 Orphanet MONDO:0017785 PENS syndrome oio:hasExactSynonym papular epidermal nevi with skyline basal cell layers syndrome papular epidermal nevi with skyline basal cell layers syndrome Papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 PENS syndrome confirmed papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936 Orphanet -MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome confirmed dup(2)(q23.1) Orphanet:313947 Orphanet MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) dup(2)(q23.1) Dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome confirmed dup(2)(q23.1) Orphanet:313947 Orphanet +MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym dup(2)(q23.1) Orphanet:313947 2q23.1 microduplication syndrome confirmed dup(2)(q23.1) Orphanet:313947 Orphanet MONDO:0017786 2q23.1 microduplication syndrome oio:hasExactSynonym trisomy 2q23.1 trisomy 2q23.1 Trisomy 2q23.1 Orphanet:313947 2q23.1 microduplication syndrome confirmed trisomy 2q23.1 Orphanet:313947 Orphanet MONDO:0017787 erythroderma desquamativum oio:hasExactSynonym Leiner disease Orphanet:314 Erythroderma desquamativum confirmed Leiner disease Orphanet:314 Orphanet MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome oio:hasExactSynonym Dinno syndrome Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome confirmed Dinno syndrome Orphanet:314002 Orphanet @@ -107514,8 +104442,8 @@ MONDO:0017808 duplication of the pituitary gland oio:hasExactSynonym hypophysea MONDO:0017809 parkinsonism due to ATP13A2 deficiency oio:hasExactSynonym CLN12 disease Orphanet:314632 CLN12 disease confirmed CLN12 disease Orphanet:314632 Orphanet MONDO:0017810 variant ABeta2M amyloidosis oio:hasExactSynonym autosomal dominant beta2-microglobulinic amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Variant ABeta2M amyloidosis confirmed autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym 5q31.3 microdeletion syndrome Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed 5q31.3 microdeletion syndrome Orphanet:314655 Orphanet -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym monosomy 5q31.3 monosomy 5q31.3 Monosomy 5q31.3 Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed monosomy 5q31.3 Orphanet:314655 Orphanet MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome Orphanet:314679 Cerebrofacioarticular syndrome confirmed Van Maldergem syndrome Orphanet:314679 Orphanet MONDO:0017815 acquired porencephaly oio:hasExactSynonym acquired porencephaly acquired porencephaly Acquired porencephaly Orphanet:314697 Acquired porencephaly confirmed acquired porencephaly Orphanet:314697 Orphanet @@ -107558,7 +104486,6 @@ MONDO:0017842 Senior-Loken syndrome oio:hasExactSynonym SLSN Orphanet:3156 Se MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital bronchopulmonary sequestration congenital bronchopulmonary sequestration Congenital bronchopulmonary sequestration Orphanet:3161 Congenital pulmonary sequestration confirmed congenital bronchopulmonary sequestration Orphanet:3161 Orphanet MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary lymphoma Orphanet:3162 Sézary syndrome confirmed Sézary lymphoma Orphanet:3162 Orphanet MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Orphanet:3162 Sézary syndrome confirmed Sézary syndrome Orphanet:3162 Orphanet -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome Orphanet:91355 Sheehan syndrome confirmed Sheehan Syndrome Orphanet:91355 Orphanet MONDO:0017845 spastic ataxia oio:hasExactSynonym SPAX Orphanet:316226 Spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPAX Orphanet:316226 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017846 autosomal dominant spastic ataxia oio:hasExactSynonym AD-SPAX Orphanet:316235 Autosomal dominant spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AD-SPAX Orphanet:316235 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017847 autosomal recessive spastic ataxia oio:hasExactSynonym AR-SPAX Orphanet:316240 Autosomal recessive spastic ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AR-SPAX Orphanet:316240 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -107629,7 +104556,6 @@ MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym MT-AT MONDO:0017917 maternally-inherited spastic paraplegia oio:hasExactSynonym maternally-inherited SPG maternally-inherited SPG Maternally-inherited SPG Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia confirmed maternally-inherited SPG Orphanet:320360 Orphanet MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oio:hasExactSynonym Curatolo-Cilio-Pessagno syndrome Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome confirmed Curatolo-Cilio-Pessagno syndrome Orphanet:3207 Orphanet MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym EEC Orphanet:322 Exstrophy-epispadias complex http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EEC Orphanet:322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym OEIS complex Orphanet:93929 Cloacal exstrophy confirmed OEIS complex Orphanet:93929 Orphanet MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oio:hasExactSynonym Pfeiffer-Kapferer syndrome Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome confirmed Pfeiffer-Kapferer syndrome Orphanet:3224 Orphanet MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome oio:hasExactSynonym Tungland-Bellman syndrome Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome confirmed Tungland-Bellman syndrome Orphanet:3225 Orphanet MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym WL syndrome Orphanet:3237 Multiple synostoses syndrome confirmed WL syndrome Orphanet:3237 Orphanet @@ -107639,8 +104565,8 @@ MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-br MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis oio:hasExactSynonym T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis confirmed T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 Orphanet MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym multiple paragangliomas associated with erythrocytosis multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with erythrocytosis Orphanet:324299 Multiple paragangliomas associated with polycythemia confirmed multiple paragangliomas associated with erythrocytosis Orphanet:324299 Orphanet MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym paraganglioma-somatostatinoma-polycythemia syndrome paraganglioma-somatostatinoma-polycythemia syndrome Paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Multiple paragangliomas associated with polycythemia confirmed paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Orphanet -MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet +MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym monosomy 9p13 monosomy 9p13 Monosomy 9p13 Orphanet:324313 9p13 microdeletion syndrome confirmed monosomy 9p13 Orphanet:324313 Orphanet MONDO:0017931 hereditary inclusion body myopathy type 4 oio:hasExactSynonym HIBM4 Orphanet:324381 Hereditary inclusion body myopathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIBM4 Orphanet:324381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oio:hasExactSynonym aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome confirmed aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Orphanet @@ -107693,7 +104619,6 @@ MONDO:0017991 Takayasu arteritis oio:hasExactSynonym Takayasu arteritis Orpha MONDO:0017991 Takayasu arteritis oio:hasExactSynonym cervical aortic arch cervical aortic arch Cervical aortic arch Orphanet:99079 Cervical aortic arch confirmed cervical aortic arch Orphanet:99079 Orphanet MONDO:0017993 cerebral sinovenous thrombosis oio:hasExactSynonym CSVT Orphanet:329217 Cerebral sinovenous thrombosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CSVT Orphanet:329217 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017998 PLA2G6-associated neurodegeneration oio:hasExactSynonym PLAN Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLAN Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration oio:hasExactSynonym FAHN Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FAHN Orphanet:329308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018000 hereditary thrombocytosis with transverse limb defect oio:hasExactSynonym familial thrombocytosis with transverse limb defect familial thrombocytosis with transverse limb defect Familial thrombocytosis with transverse limb defect Orphanet:329319 Thrombocythemia with distal limb defects confirmed familial thrombocytosis with transverse limb defect Orphanet:329319 Orphanet MONDO:0018001 inverse Klippel-Trenaunay syndrome oio:hasExactSynonym cutaneous hemangioma with muscle or bone atrophy cutaneous hemangioma with muscle or bone atrophy Cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 Inverse Klippel-Trénaunay syndrome confirmed cutaneous hemangioma with muscle or bone atrophy Orphanet:329324 Orphanet @@ -107822,7 +104747,6 @@ MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym classic xanthinuria cl MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym hereditary xanthinuria hereditary xanthinuria Hereditary xanthinuria Orphanet:3467 Hereditary xanthinuria confirmed hereditary xanthinuria Orphanet:3467 Orphanet MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthic urolithiasis xanthic urolithiasis Xanthic urolithiasis Orphanet:3467 Hereditary xanthinuria confirmed xanthic urolithiasis Orphanet:3467 Orphanet MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine stone disease xanthine stone disease Xanthine stone disease Orphanet:3467 Hereditary xanthinuria confirmed xanthine stone disease Orphanet:3467 Orphanet -MONDO:0018106 hereditary xanthinuria oio:hasExactSynonym xanthine dehydrogenase deficiency xanthine dehydrogenase deficiency Xanthine dehydrogenase deficiency Orphanet:93601 Xanthinuria type I confirmed xanthine dehydrogenase deficiency Orphanet:93601 Orphanet MONDO:0018115 epidermal nevus syndrome oio:hasExactSynonym Epidermal hamartoma syndrome Orphanet:35125 Epidermal nevus syndrome confirmed Epidermal hamartoma syndrome Orphanet:35125 Orphanet MONDO:0018116 galactosemia oio:hasExactSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia confirmed galactosemia Orphanet:352 Orphanet MONDO:0018121 mitochondrial DNA maintenance syndrome oio:hasExactSynonym mtDNA maintenance syndrome Orphanet:352456 Mitochondrial DNA maintenance syndrome confirmed mtDNA maintenance syndrome Orphanet:352456 Orphanet @@ -107834,8 +104758,8 @@ MONDO:0018124 Oncogenic osteomalacia oio:hasExactSynonym TIO Orphanet:352540 MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation oio:hasExactSynonym focal epilepsy-intellectual disability-dysarthria-ataxia syndrome focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation confirmed focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Orphanet MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym progressive myoclonus epilepsy with dystonia progressive myoclonus epilepsy with dystonia Progressive myoclonus epilepsy with dystonia Orphanet:352596 Progressive myoclonic epilepsy with dystonia confirmed progressive myoclonus epilepsy with dystonia Orphanet:352596 Orphanet MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym PMED Orphanet:352596 Progressive myoclonic epilepsy with dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMED Orphanet:352596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Del(16)(q24.1) del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet +MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.1 monosomy 16q24.1 Monosomy 16q24.1 Orphanet:352629 16q24.1 microdeletion syndrome confirmed monosomy 16q24.1 Orphanet:352629 Orphanet MONDO:0018128 phalangeal microgeodic syndrome oio:hasExactSynonym phalangeal osteolysis phalangeal osteolysis Phalangeal osteolysis Orphanet:352636 Phalangeal microgeodic syndrome confirmed phalangeal osteolysis Orphanet:352636 Orphanet MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity oio:hasExactSynonym autosomal recessive cerebellar ataxia due to GBA2 deficiency autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity confirmed autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Orphanet @@ -107871,8 +104795,6 @@ MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset PLS adult-onset MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset primary lateral sclerosis adult-onset primary lateral sclerosis Adult-onset primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis confirmed adult-onset primary lateral sclerosis Orphanet:35689 Orphanet MONDO:0018155 lateral sclerosis oio:hasExactSynonym primary lateral sclerosis primary lateral sclerosis Primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis confirmed primary lateral sclerosis Orphanet:35689 Orphanet MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome confirmed Del(3)(q26q27) Orphanet:356947 Orphanet MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Del(3)(q26q27) del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome confirmed Del(3)(q26q27) Orphanet:356947 Orphanet MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym monosomy 3q26q27 monosomy 3q26q27 Monosomy 3q26q27 Orphanet:356947 3q26q27 microdeletion syndrome confirmed monosomy 3q26q27 Orphanet:356947 Orphanet @@ -107930,13 +104852,13 @@ MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffu MONDO:0018199 new-onset refractory status epilepticus oio:hasExactSynonym NORSE Norse NORSE Orphanet:363558 New-onset refractory status epilepticus http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NORSE Orphanet:363558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018201 extragonadal germ cell tumor oio:hasExactSynonym extragonadal germ cell tumor extragonadal germ cell tumor Extragonadal germ cell tumor Orphanet:363579 Extragonadal germ cell tumor confirmed extragonadal germ cell tumor Orphanet:363579 Orphanet MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome oio:hasExactSynonym LCPS Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCPS Orphanet:363618 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome confirmed dup(20)(q11.2) Orphanet:363659 Orphanet MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) dup(20)(q11.2) Dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome confirmed dup(20)(q11.2) Orphanet:363659 Orphanet +MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome confirmed dup(20)(q11.2) Orphanet:363659 Orphanet MONDO:0018205 distal monosomy 1q oio:hasExactSynonym distal deletion 1q distal deletion 1q Distal deletion 1q Orphanet:36367 Distal deletion 1q confirmed distal deletion 1q Orphanet:36367 Orphanet MONDO:0018205 distal monosomy 1q oio:hasExactSynonym monosomy 1qter monosomy 1qter Monosomy 1qter Orphanet:36367 Distal deletion 1q confirmed monosomy 1qter Orphanet:36367 Orphanet MONDO:0018205 distal monosomy 1q oio:hasExactSynonym telomeric deletion 1q telomeric deletion 1q Telomeric deletion 1q Orphanet:36367 Distal deletion 1q confirmed telomeric deletion 1q Orphanet:36367 Orphanet -MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet +MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oio:hasExactSynonym Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion confirmed Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Orphanet MONDO:0018209 Alexander disease type I oio:hasExactSynonym AxD type I Orphanet:363717 Alexander disease type I confirmed AxD type I Orphanet:363717 Orphanet MONDO:0018210 Alexander disease type II oio:hasExactSynonym AxD type II Orphanet:363722 Alexander disease type II confirmed AxD type II Orphanet:363722 Orphanet @@ -107949,9 +104871,7 @@ MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSyn MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 oio:hasExactSynonym HSAN1 Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSAN1 Orphanet:36386 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym genetic epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures-plus Genetic epilepsy with febrile seizures-plus Orphanet:36387 Generalized epilepsy with febrile seizures-plus confirmed genetic epilepsy with febrile seizures-plus Orphanet:36387 Orphanet MONDO:0018214 generalized epilepsy with febrile seizures plus oio:hasExactSynonym GEFS+ Orphanet:36387 Generalized epilepsy with febrile seizures-plus http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GEFS+ Orphanet:36387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:244 Primary ciliary dyskinesia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD Orphanet:244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PNS Orphanet:36388 Paraneoplastic neurologic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PNS Orphanet:36388 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym PCD Orphanet:623626 Paraneoplastic cerebellar degeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCD Orphanet:623626 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Del(17)(q21.31) del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome confirmed Del(17)(q21.31) Orphanet:363958 Orphanet MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym Del(17)(q21.31) Orphanet:363958 17q21.31 microdeletion syndrome confirmed Del(17)(q21.31) Orphanet:363958 Orphanet MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome oio:hasExactSynonym monosomy 17q21.31 monosomy 17q21.31 Monosomy 17q21.31 Orphanet:363958 17q21.31 microdeletion syndrome confirmed monosomy 17q21.31 Orphanet:363958 Orphanet @@ -107985,8 +104905,8 @@ MONDO:0018245 2p21 microdeletion syndrome without cystinuria oio:hasExactSynonym MONDO:0018247 CADDS oio:hasExactSynonym Zellweger-like contiguous gene deletion syndrome Orphanet:369942 CADDS confirmed Zellweger-like contiguous gene deletion syndrome Orphanet:369942 Orphanet MONDO:0018247 CADDS oio:hasExactSynonym contiguous ABCD1 DXS1357E deletion syndrome contiguous ABCD1 DXS1357E deletion syndrome Contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 CADDS confirmed contiguous ABCD1 DXS1357E deletion syndrome Orphanet:369942 Orphanet MONDO:0018247 CADDS oio:hasExactSynonym CADDS Orphanet:369942 CADDS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed CADDS Orphanet:369942 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome confirmed Der(8)t(8;12) Orphanet:369950 Orphanet MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome confirmed Der(8)t(8;12) Orphanet:369950 Orphanet +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome oio:hasExactSynonym Der(8)t(8;12) Der(8)t(8;12) der(8)t(8;12) Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome confirmed Der(8)t(8;12) Orphanet:369950 Orphanet MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation oio:hasExactSynonym AML with t(8;16)(p11;p13) translocation Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation confirmed AML with t(8;16)(p11;p13) translocation Orphanet:370026 Orphanet MONDO:0018258 Angora hair nevus oio:hasExactSynonym Schauder syndrome Orphanet:370039 Angora hair nevus confirmed Schauder syndrome Orphanet:370039 Orphanet MONDO:0018259 didymosis aplasticosebacea oio:hasExactSynonym aplasia cutis congenita-nevus sebaceus syndrome aplasia cutis congenita-nevus sebaceus syndrome Aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 Didymosis aplasticosebacea confirmed aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046 Orphanet @@ -108043,7 +104963,6 @@ MONDO:0018309 Hirschsprung disease oio:hasExactSynonym HSCR Orphanet:388 Hirs MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell granulomatosis Orphanet:389 Langerhans cell histiocytosis confirmed Langerhans cell granulomatosis Orphanet:389 Orphanet MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym Langerhans cell histiocytosis Orphanet:389 Langerhans cell histiocytosis confirmed Langerhans cell histiocytosis Orphanet:389 Orphanet MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym histiocytosis X histiocytosis X Histiocytosis X Orphanet:389 Langerhans cell histiocytosis confirmed histiocytosis X Orphanet:389 Orphanet -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018312 histoplasmosis oio:hasExactSynonym darling disease darling disease Darling disease Orphanet:390 Histoplasmosis confirmed darling disease Orphanet:390 Orphanet MONDO:0018319 familial episodic pain syndrome oio:hasExactSynonym FEPS Orphanet:391384 Familial episodic pain syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FEPS Orphanet:391384 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018322 HSD10 disease, infantile type oio:hasExactSynonym 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 HSD10 disease, infantile type confirmed 2-methyl-3-hydroxybutyric aciduria, classic type Orphanet:391428 Orphanet @@ -108082,8 +105001,8 @@ MONDO:0018338 activated PI3K-delta syndrome oio:hasExactSynonym APDS Orphanet MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with HSAN chronic diarrhea with HSAN Chronic diarrhea with HSAN Orphanet:397606 PrP systemic amyloidosis confirmed chronic diarrhea with HSAN Orphanet:397606 Orphanet MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym chronic diarrhea with hereditary sensory and autonomic neuropathy chronic diarrhea with hereditary sensory and autonomic neuropathy Chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 PrP systemic amyloidosis confirmed chronic diarrhea with hereditary sensory and autonomic neuropathy Orphanet:397606 Orphanet MONDO:0018339 PrP systemic amyloidosis oio:hasExactSynonym prion protein systemic amyloidosis prion protein systemic amyloidosis Prion protein systemic amyloidosis Orphanet:397606 PrP systemic amyloidosis confirmed prion protein systemic amyloidosis Orphanet:397606 Orphanet -MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome confirmed Del(3)(q27.3) Orphanet:397695 Orphanet MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome confirmed Del(3)(q27.3) Orphanet:397695 Orphanet +MONDO:0018341 3q27.3 microdeletion syndrome oio:hasExactSynonym Del(3)(q27.3) Del(3)(q27.3) del(3)(q27.3) Orphanet:397695 3q27.3 microdeletion syndrome confirmed Del(3)(q27.3) Orphanet:397695 Orphanet MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym JBTS with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy confirmed JBTS with JATD Orphanet:397715 Orphanet MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oio:hasExactSynonym Joubert syndrome with JATD Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy confirmed Joubert syndrome with JATD Orphanet:397715 Orphanet MONDO:0018346 ferro-cerebro-cutaneous syndrome oio:hasExactSynonym cerebro-cutaneous syndrome with iron overload cerebro-cutaneous syndrome with iron overload Cerebro-cutaneous syndrome with iron overload Orphanet:397922 Ferro-cerebro-cutaneous syndrome confirmed cerebro-cutaneous syndrome with iron overload Orphanet:397922 Orphanet @@ -108201,8 +105120,8 @@ MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym generali MONDO:0018471 generalized eruptive keratoacanthoma oio:hasExactSynonym GEKA Orphanet:411777 Generalized eruptive keratoacanthoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GEKA Orphanet:411777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym HLP type 3 Orphanet:412 Dysbetalipoproteinemia confirmed HLP type 3 Orphanet:412 Orphanet MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym hyperlipidemia type 3 hyperlipidemia type 3 Hyperlipidemia type 3 Orphanet:412 Dysbetalipoproteinemia confirmed hyperlipidemia type 3 Orphanet:412 Orphanet -MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome confirmed Del(13)(q12.3) Orphanet:412035 Orphanet MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome confirmed Del(13)(q12.3) Orphanet:412035 Orphanet +MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym Del(13)(q12.3) Del(13)(q12.3) del(13)(q12.3) Orphanet:412035 13q12.3 microdeletion syndrome confirmed Del(13)(q12.3) Orphanet:412035 Orphanet MONDO:0018474 13q12.3 microdeletion syndrome oio:hasExactSynonym monosomy 13q12.3 monosomy 13q12.3 Monosomy 13q12.3 Orphanet:412035 13q12.3 microdeletion syndrome confirmed monosomy 13q12.3 Orphanet:412035 Orphanet MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym bilirubin encephalopathy bilirubin encephalopathy Bilirubin encephalopathy Orphanet:415286 Bilirubin encephalopathy confirmed bilirubin encephalopathy Orphanet:415286 Orphanet MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym kernicterus kernicterus Kernicterus Orphanet:415286 Bilirubin encephalopathy confirmed kernicterus Orphanet:415286 Orphanet @@ -108211,7 +105130,6 @@ MONDO:0018480 carcinoma of esophagus, salivary gland type oio:hasExactSynonym e MONDO:0018481 undifferentiated carcinoma of esophagus oio:hasExactSynonym undifferentiated esophageal carcinoma undifferentiated esophageal carcinoma Undifferentiated esophageal carcinoma Orphanet:418951 Undifferentiated carcinoma of esophagus confirmed undifferentiated esophageal carcinoma Orphanet:418951 Orphanet MONDO:0018483 secondary pulmonary alveolar proteinosis oio:hasExactSynonym secondary PAP secondary PAP Secondary PAP Orphanet:420259 Secondary pulmonary alveolar proteinosis confirmed secondary PAP Orphanet:420259 Orphanet MONDO:0018484 semicircular canal dehiscence syndrome oio:hasExactSynonym SCD syndrome Orphanet:420402 Semicircular canal dehiscence syndrome confirmed SCD syndrome Orphanet:420402 Orphanet -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym LOPD Orphanet:411602 Hereditary late-onset Parkinson disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LOPD Orphanet:411602 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset confirmed Alpha-1,4-glucosidase acid deficiency, late-onset Orphanet:420429 Orphanet MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD due to acid maltase deficiency, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset confirmed GSD due to acid maltase deficiency, late-onset Orphanet:420429 Orphanet MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset oio:hasExactSynonym GSD type 2, late-onset Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset confirmed GSD type 2, late-onset Orphanet:420429 Orphanet @@ -108268,13 +105186,12 @@ MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxicity seroton MONDO:0018546 serotonin syndrome oio:hasExactSynonym serotonin toxidrome serotonin toxidrome Serotonin toxidrome Orphanet:43116 Serotonin syndrome confirmed serotonin toxidrome Orphanet:43116 Orphanet MONDO:0018551 patent urachus oio:hasExactSynonym patent urachus patent urachus Patent urachus Orphanet:431341 Patent urachus confirmed patent urachus Orphanet:431341 Orphanet MONDO:0018553 urachal diverticulum oio:hasExactSynonym Vesicourachal diverticulum Orphanet:431347 Urachal diverticulum confirmed Vesicourachal diverticulum Orphanet:431347 Orphanet -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym gonadotropic deficiency gonadotropic deficiency Gonadotropic deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism confirmed gonadotropic deficiency Orphanet:238666 Orphanet MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism confirmed Normosmic idiopathic hypogonadotropic hypogonadism Orphanet:432 Orphanet MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym nIHH Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism confirmed nIHH Orphanet:432 Orphanet MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym normosmic congenital hypogonadotropic hypogonadism normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism confirmed normosmic congenital hypogonadotropic hypogonadism Orphanet:432 Orphanet MONDO:0018559 fetal lower urinary tract obstruction oio:hasExactSynonym LUTO Orphanet:435365 Fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LUTO Orphanet:435365 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome confirmed Del(3)p(25.3) Orphanet:435638 Orphanet MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome confirmed Del(3)p(25.3) Orphanet:435638 Orphanet +MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym Del(3)p(25.3) Del(3)p(25.3) del(3)p(25.3) Orphanet:435638 3p25.3 microdeletion syndrome confirmed Del(3)p(25.3) Orphanet:435638 Orphanet MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym intellectual disability-epilepsy-stereotypic hand movement syndrome intellectual disability-epilepsy-stereotypic hand movement syndrome Intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 3p25.3 microdeletion syndrome confirmed intellectual disability-epilepsy-stereotypic hand movement syndrome Orphanet:435638 Orphanet MONDO:0018564 3p25.3 microdeletion syndrome oio:hasExactSynonym monosomy 3p25.3 monosomy 3p25.3 Monosomy 3p25.3 Orphanet:435638 3p25.3 microdeletion syndrome confirmed monosomy 3p25.3 Orphanet:435638 Orphanet MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oio:hasExactSynonym CMT2 due to TFG mutation Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation confirmed CMT2 due to TFG mutation Orphanet:435819 Orphanet @@ -108362,7 +105279,6 @@ MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary im MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oio:hasExactSynonym triangle disease triangle disease TRIANGLE disease Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency confirmed triangle disease Orphanet:444463 Orphanet MONDO:0018642 NIK deficiency oio:hasExactSynonym primary immunodeficiency with multifaceted aberrant lymphoid immunity primary immunodeficiency with multifaceted aberrant lymphoid immunity Primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 NIK deficiency confirmed primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731 Orphanet MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B oio:hasExactSynonym AD-SPG9B Orphanet:447757 Autosomal dominant spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AD-SPG9B Orphanet:447757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym Primary sclerosing cholangitis Orphanet:171 Primary sclerosing cholangitis confirmed Primary sclerosing cholangitis Orphanet:171 Orphanet MONDO:0018646 sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis sclerosing cholangitis Sclerosing cholangitis Orphanet:447771 Sclerosing cholangitis confirmed sclerosing cholangitis Orphanet:447771 Orphanet MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym odontogenic keratocystoma odontogenic keratocystoma Odontogenic keratocystoma Orphanet:447777 Keratocystic odontogenic tumor confirmed odontogenic keratocystoma Orphanet:447777 Orphanet MONDO:0018648 Keratocystic odontogenic tumor oio:hasExactSynonym KTOC Orphanet:447777 Keratocystic odontogenic tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KTOC Orphanet:447777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -108406,8 +105322,8 @@ MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Holmes-Adie syndrome Orphanet:454718 Holmes-Adie syndrome confirmed Holmes-Adie syndrome Orphanet:454718 Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym tonic pupil-tendon areflexia syndrome tonic pupil-tendon areflexia syndrome Tonic pupil-tendon areflexia syndrome Orphanet:454718 Holmes-Adie syndrome confirmed tonic pupil-tendon areflexia syndrome Orphanet:454718 Orphanet MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym H-type tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula confirmed H-type tracheoesophageal fistula Orphanet:454750 Orphanet -MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet +MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym deletion 1p35.2 deletion 1p35.2 Deletion 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome confirmed deletion 1p35.2 Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym monosomy 1p35.2 monosomy 1p35.2 Monosomy 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome confirmed monosomy 1p35.2 Orphanet:456298 Orphanet MONDO:0018698 hereditary neuroendocrine tumor of small intestine oio:hasExactSynonym hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of small bowel Hereditary neuroendocrine tumor of small bowel Orphanet:456333 Hereditary neuroendocrine tumor of small intestine confirmed hereditary neuroendocrine tumor of small bowel Orphanet:456333 Orphanet @@ -108424,13 +105340,12 @@ MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym PILA MONDO:0018715 congenital hemangioma oio:hasExactSynonym congenital hemangioma congenital hemangioma Congenital hemangioma Orphanet:458775 Congenital hemangioma confirmed congenital hemangioma Orphanet:458775 Orphanet MONDO:0018717 mixed cystic lymphatic malformation oio:hasExactSynonym mixed cystic lymphangioma mixed cystic lymphangioma Mixed cystic lymphangioma Orphanet:458792 Mixed cystic lymphatic malformation confirmed mixed cystic lymphangioma Orphanet:458792 Orphanet MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym 7q36.3 microduplication syndrome Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed 7q36.3 microduplication syndrome Orphanet:459074 Orphanet -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) dup(7)(q36.3) Dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation oio:hasExactSynonym DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation confirmed DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Orphanet MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym cutaneovisceral angiomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome confirmed cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Orphanet MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome confirmed multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Orphanet MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym MLT Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MLT Orphanet:464321 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym catastrophic APS catastrophic APS Catastrophic APS Orphanet:464343 Catastrophic antiphospholipid syndrome confirmed catastrophic APS Orphanet:464343 Orphanet MONDO:0018737 catastrophic antiphospholipid syndrome oio:hasExactSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018741 paracetamol poisoning oio:hasExactSynonym acetaminophen poisoning acetaminophen poisoning Acetaminophen poisoning Orphanet:464458 Paracetamol poisoning confirmed acetaminophen poisoning Orphanet:464458 Orphanet @@ -108588,7 +105503,6 @@ MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma man MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle zone lymphoma Orphanet:52416 Mantle cell lymphoma confirmed mantle zone lymphoma Orphanet:52416 Orphanet MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym LCM Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCM Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym MCL Orphanet:52416 Mantle cell lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCL Orphanet:52416 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018879 lichen planopilaris oio:hasExactSynonym LPP Orphanet:163927 Pustulosis palmaris et plantaris http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LPP Orphanet:163927 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018879 lichen planopilaris oio:hasExactSynonym follicular lichen planus follicular lichen planus Follicular lichen planus Orphanet:525 Lichen planopilaris confirmed follicular lichen planus Orphanet:525 Orphanet MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen follicularis lichen follicularis Lichen follicularis Orphanet:525 Lichen planopilaris confirmed lichen follicularis Orphanet:525 Orphanet MONDO:0018879 lichen planopilaris oio:hasExactSynonym lichen planus follicularis lichen planus follicularis Lichen planus follicularis Orphanet:525 Lichen planopilaris confirmed lichen planus follicularis Orphanet:525 Orphanet @@ -108770,7 +105684,6 @@ MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome Orphanet:648 Noonan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Noonan syndrome Orphanet:648 Orphanet MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym amaurosis congenita of Leber amaurosis congenita of Leber Amaurosis congenita of Leber Orphanet:65 Leber congenital amaurosis confirmed amaurosis congenita of Leber Orphanet:65 Orphanet MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis Orphanet:65 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Leber congenital amaurosis Orphanet:65 Orphanet -MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym LCA Orphanet:673538 Littoral cell hemangioma of the spleen http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCA Orphanet:673538 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018999 LCAT deficiency oio:hasExactSynonym lecithin-cholesterol acyltransferase deficiency lecithin-cholesterol acyltransferase deficiency Lecithin-cholesterol acyltransferase deficiency Orphanet:650 LCAT deficiency confirmed lecithin-cholesterol acyltransferase deficiency Orphanet:650 Orphanet MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum dysplastic gangliocytoma of the cerebellum Dysplastic gangliocytoma of the cerebellum Orphanet:65285 Lhermitte-Duclos disease confirmed dysplastic gangliocytoma of the cerebellum Orphanet:65285 Orphanet MONDO:0019002 Lhermitte-Duclos disease oio:hasExactSynonym LDD Orphanet:65285 Lhermitte-Duclos disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LDD Orphanet:65285 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -108818,12 +105731,10 @@ MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma Orphanet:66662 Extracutaneous mastocytoma confirmed extracutaneous mastocytoma Orphanet:66662 Orphanet MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive malignant osteopetrosis autosomal recessive malignant osteopetrosis Autosomal recessive malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis confirmed autosomal recessive malignant osteopetrosis Orphanet:667 Orphanet MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym infantile malignant osteopetrosis infantile malignant osteopetrosis Infantile malignant osteopetrosis Orphanet:667 Autosomal recessive malignant osteopetrosis confirmed infantile malignant osteopetrosis Orphanet:667 Orphanet -MONDO:0019029 segmental odontomaxillary dysplasia oio:hasExactSynonym SOD Orphanet:3157 Septo-optic dysplasia spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SOD Orphanet:3157 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia confirmed X-linked congenital dyserythropoietic anemia with thrombocytopenia Orphanet:67044 Orphanet MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym congenital dyserythropoietic anemia with thombocytopenia congenital dyserythropoietic anemia with thombocytopenia Congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia confirmed congenital dyserythropoietic anemia with thombocytopenia Orphanet:67044 Orphanet MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia oio:hasExactSynonym XDAT Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed XDAT Orphanet:67044 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency oio:hasExactSynonym MRGH Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MRGH Orphanet:67045 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome confirmed Steele-Richardson-Olszewski disease Orphanet:240071 Orphanet MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym PSP syndrome Orphanet:683 Progressive supranuclear palsy confirmed PSP syndrome Orphanet:683 Orphanet MONDO:0019053 peroxisomal disease oio:hasExactSynonym peroxisomal disease peroxisomal disease Peroxisomal disease Orphanet:68373 Peroxisomal disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisomal disease Orphanet:68373 Orphanet MONDO:0019054 congenital limb malformation oio:hasExactSynonym congenital limb malformation congenital limb malformation Congenital limb malformation Orphanet:68378 Congenital limb malformation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed congenital limb malformation Orphanet:68378 Orphanet @@ -108887,12 +105798,10 @@ MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym continuous spikes and waves during slow-wave sleep continuous spikes and waves during slow-wave sleep Continuous spikes and waves during slow-wave sleep Orphanet:725 Continuous spikes and waves during sleep confirmed continuous spikes and waves during slow-wave sleep Orphanet:725 Orphanet MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym epileptic encephalopathy with continuous spike-and-wave during slow sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 Continuous spikes and waves during sleep confirmed epileptic encephalopathy with continuous spike-and-wave during slow sleep Orphanet:725 Orphanet MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym CSWS Orphanet:725 Continuous spikes and waves during sleep http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CSWS Orphanet:725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019123 continuous spikes and waves during sleep oio:hasExactSynonym LKS Orphanet:98818 Landau-Kleffner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LKS Orphanet:98818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym Micropolyangiitis Orphanet:727 Microscopic polyangiitis confirmed Micropolyangiitis Orphanet:727 Orphanet MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym microscopic polyarteritis microscopic polyarteritis Microscopic polyarteritis Orphanet:727 Microscopic polyangiitis confirmed microscopic polyarteritis Orphanet:727 Orphanet MONDO:0019124 microscopic polyangiitis oio:hasExactSynonym MPA Orphanet:727 Microscopic polyangiitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPA Orphanet:727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019127 polymyositis oio:hasExactSynonym polymyositis polymyositis Polymyositis Orphanet:732 Polymyositis confirmed polymyositis Orphanet:732 Orphanet -MONDO:0019127 polymyositis oio:hasExactSynonym PM Orphanet:764 Pyomyositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PM Orphanet:764 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019128 mullerian aplasia oio:hasExactSynonym Müllerian duct failure Orphanet:73217 Müllerian aplasia confirmed Müllerian duct failure Orphanet:73217 Orphanet MONDO:0019128 mullerian aplasia oio:hasExactSynonym aplasia of the Müllerian ducts aplasia of the Müllerian ducts Aplasia of the Müllerian ducts Orphanet:73217 Müllerian aplasia confirmed aplasia of the Müllerian ducts Orphanet:73217 Orphanet MONDO:0019136 Zygomycosis oio:hasExactSynonym Mucormycosis Orphanet:73263 Zygomycosis confirmed Mucormycosis Orphanet:73263 Orphanet @@ -108945,9 +105854,7 @@ MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym hypertensive h MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym mineralocorticoid resistant hyperkalemia mineralocorticoid resistant hyperkalemia Mineralocorticoid resistant hyperkalemia Orphanet:757 Pseudohypoaldosteronism type 2 confirmed mineralocorticoid resistant hyperkalemia Orphanet:757 Orphanet MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHA2 Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHA2 Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym PHAII Orphanet:757 Pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHAII Orphanet:757 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019165 central precocious puberty oio:hasExactSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019165 central precocious puberty oio:hasExactSynonym gonadotropin-dependant precocious puberty gonadotropin-dependant precocious puberty Gonadotropin-dependant precocious puberty Orphanet:650063 Rare central precocious puberty confirmed gonadotropin-dependant precocious puberty Orphanet:650063 Orphanet -MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym HSP Orphanet:685 Hereditary spastic paraplegia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSP Orphanet:685 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym IgA vasculitis Orphanet:761 Immunoglobulin A vasculitis confirmed IgA vasculitis Orphanet:761 Orphanet MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym anaphylactoid purpura anaphylactoid purpura Anaphylactoid purpura Orphanet:761 Immunoglobulin A vasculitis confirmed anaphylactoid purpura Orphanet:761 Orphanet MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym purpura rheumatica purpura rheumatica Purpura rheumatica Orphanet:761 Immunoglobulin A vasculitis confirmed purpura rheumatica Orphanet:761 Orphanet @@ -108962,7 +105869,6 @@ MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate de MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Orphanet:765 Pyruvate dehydrogenase deficiency confirmed pyruvate dehydrogenase deficiency Orphanet:765 Orphanet MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDH Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDH Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym PDHC Orphanet:765 Pyruvate dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PDHC Orphanet:765 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019169 pyruvate dehydrogenase deficiency oio:hasExactSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency confirmed pyruvate decarboxylase deficiency Orphanet:79243 Orphanet MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym Küssmaul-Maier disease Orphanet:767 Polyarteritis nodosa confirmed Küssmaul-Maier disease Orphanet:767 Orphanet MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym periarteritis nodosa periarteritis nodosa Periarteritis nodosa Orphanet:767 Polyarteritis nodosa confirmed periarteritis nodosa Orphanet:767 Orphanet MONDO:0019170 polyarteritis nodosa oio:hasExactSynonym polyarteritis nodosa polyarteritis nodosa Polyarteritis nodosa Orphanet:767 Polyarteritis nodosa confirmed polyarteritis nodosa Orphanet:767 Orphanet @@ -109018,8 +105924,6 @@ MONDO:0019201 thyrotoxic periodic paralysis oio:hasExactSynonym thyrotoxic hypo MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym fibromyxosarcoma fibromyxosarcoma Fibromyxosarcoma Orphanet:79105 Myxofibrosarcoma confirmed fibromyxosarcoma Orphanet:79105 Orphanet MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxofibrosarcoma myxofibrosarcoma Myxofibrosarcoma Orphanet:79105 Myxofibrosarcoma confirmed myxofibrosarcoma Orphanet:79105 Orphanet MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym myxoid malignant fibrous histiocytoma myxoid malignant fibrous histiocytoma Myxoid malignant fibrous histiocytoma Orphanet:79105 Myxofibrosarcoma confirmed myxoid malignant fibrous histiocytoma Orphanet:79105 Orphanet -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym Hamman-rich syndrome Hamman-rich syndrome Hamman-Rich syndrome Orphanet:79126 Acute interstitial pneumonia confirmed Hamman-rich syndrome Orphanet:79126 Orphanet MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym acute interstitial pneumonitis acute interstitial pneumonitis Acute interstitial pneumonitis Orphanet:79126 Acute interstitial pneumonia confirmed acute interstitial pneumonitis Orphanet:79126 Orphanet MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome oio:hasExactSynonym RB-ILD Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RB-ILD Orphanet:79127 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -109045,7 +105949,6 @@ MONDO:0019258 mild phenylketonuria oio:hasExactSynonym mild PKU mild PKU Mild P MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant PKU variant PKU Variant PKU Orphanet:79253 Mild phenylketonuria confirmed variant PKU Orphanet:79253 Orphanet MONDO:0019258 mild phenylketonuria oio:hasExactSynonym variant phenylketonuria variant phenylketonuria Variant phenylketonuria Orphanet:79253 Mild phenylketonuria confirmed variant phenylketonuria Orphanet:79253 Orphanet MONDO:0019259 classic phenylketonuria oio:hasExactSynonym classic PKU classic PKU Classic PKU Orphanet:79254 Classic phenylketonuria confirmed classic PKU Orphanet:79254 Orphanet -MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:659681 Erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPP Orphanet:659681 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019263 autosomal erythropoietic protoporphyria oio:hasExactSynonym EPP Orphanet:79278 Autosomal erythropoietic protoporphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPP Orphanet:79278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym NAGA deficiency type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 confirmed NAGA deficiency type 3 Orphanet:79281 Orphanet MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 confirmed Schindler disease type 3 Orphanet:79281 Orphanet @@ -109301,7 +106204,6 @@ MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExact MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym HHE syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome confirmed HHE syndrome Orphanet:86908 Orphanet MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym hemiconvulsion-hemiplegia-epilepsy syndrome hemiconvulsion-hemiplegia-epilepsy syndrome Hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome confirmed hemiconvulsion-hemiplegia-epilepsy syndrome Orphanet:86908 Orphanet MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome oio:hasExactSynonym IHHS Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IHHS Orphanet:86908 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019487 epilepsy with myoclonic absences oio:hasExactSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonic status in non-progressive encephalopathies myoclonic status in non-progressive encephalopathies Myoclonic status in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies confirmed myoclonic status in non-progressive encephalopathies Orphanet:86913 Orphanet MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies oio:hasExactSynonym myoclonus epilepsy in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies confirmed myoclonus epilepsy in non-progressive encephalopathies Orphanet:86913 Orphanet MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome oio:hasExactSynonym diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome confirmed diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Orphanet:86918 Orphanet @@ -109354,7 +106256,6 @@ MONDO:0019532 autoimmune hemolytic anemia, warm type oio:hasExactSynonym warm A MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner hemolytic anemia Orphanet:90035 Paroxysmal cold hemoglobinuria confirmed Donath-Landsteiner hemolytic anemia Orphanet:90035 Orphanet MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome Orphanet:90035 Paroxysmal cold hemoglobinuria confirmed Donath-Landsteiner syndrome Orphanet:90035 Orphanet MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019534 mixed-type autoimmune hemolytic anemia oio:hasExactSynonym mixed AIHA mixed AIHA Mixed AIHA Orphanet:90036 Mixed-type autoimmune hemolytic anemia confirmed mixed AIHA Orphanet:90036 Orphanet MONDO:0019535 drug-induced autoimmune hemolytic anemia oio:hasExactSynonym drug-induced AIHA drug-induced AIHA Drug-induced AIHA Orphanet:90037 Drug-induced autoimmune hemolytic anemia confirmed drug-induced AIHA Orphanet:90037 Orphanet MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome oio:hasExactSynonym Shiga-like toxin-associated HUS Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome confirmed Shiga-like toxin-associated HUS Orphanet:90038 Orphanet @@ -109444,7 +106345,6 @@ MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioneurotic ed MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired bradykinine-induced angioedema acquired bradykinine-induced angioedema Acquired bradykinine-induced angioedema Orphanet:91385 Acquired angioedema confirmed acquired bradykinine-induced angioedema Orphanet:91385 Orphanet MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired non histamine-induced angioedema acquired non histamine-induced angioedema Acquired non histamine-induced angioedema Orphanet:91385 Acquired angioedema confirmed acquired non histamine-induced angioedema Orphanet:91385 Orphanet MONDO:0019624 acquired angioedema oio:hasExactSynonym AAE Orphanet:91385 Acquired angioedema http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AAE Orphanet:91385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial aortic dissection familial aortic dissection Familial aortic dissection Orphanet:229 Familial aortic dissection confirmed familial aortic dissection Orphanet:229 Orphanet MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial TAAD familial TAAD Familial TAAD Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection confirmed familial TAAD Orphanet:91387 Orphanet MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym familial thoracic aortic aneurysm and aortic dissection familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 Orphanet MONDO:0019629 sclerocornea oio:hasExactSynonym isolated congenital sclerocornea isolated congenital sclerocornea Isolated congenital sclerocornea Orphanet:91490 Isolated congenital sclerocornea confirmed isolated congenital sclerocornea Orphanet:91490 Orphanet @@ -109514,10 +106414,8 @@ MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura confirmed acquired thrombotic thrombocytopenic purpura Orphanet:93585 Orphanet MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym autoimmune thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura confirmed autoimmune thrombotic thrombocytopenic purpura Orphanet:93585 Orphanet MONDO:0019753 localized Castleman disease oio:hasExactSynonym localized Castleman disease localized Castleman disease Localized Castleman disease Orphanet:93685 Unicentric Castleman disease confirmed localized Castleman disease Orphanet:93685 Orphanet -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:148 Multiple carboxylase deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD Orphanet:148 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym HHV-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease confirmed HHV-8-associated multicentric Castleman disease Orphanet:570438 Orphanet MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 HHV-8-associated multicentric Castleman disease confirmed Human herpesvirus-8-associated multicentric Castleman disease Orphanet:570438 Orphanet -MONDO:0019754 multicentric Castleman disease oio:hasExactSynonym MCD Orphanet:98969 Macular corneal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCD Orphanet:98969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym malformation syndrome malformation syndrome Malformation syndrome Orphanet:93890 Rare developmental defect during embryogenesis confirmed malformation syndrome Orphanet:93890 Orphanet MONDO:0019755 developmental defect during embryogenesis oio:hasExactSynonym rare developmental defect during embryogenesis rare developmental defect during embryogenesis Rare developmental defect during embryogenesis Orphanet:93890 Rare developmental defect during embryogenesis confirmed rare developmental defect during embryogenesis Orphanet:93890 Orphanet MONDO:0019761 laryngotracheoesophageal cleft type 1 oio:hasExactSynonym LTEC I Orphanet:93938 Laryngotracheoesophageal cleft type 1 confirmed LTEC I Orphanet:93938 Orphanet @@ -109576,7 +106474,6 @@ MONDO:0019806 primary progressive aphasia oio:hasExactSynonym PPA Orphanet:95 MONDO:0019807 mesocardia oio:hasExactSynonym Midline heart Orphanet:95443 Mesocardia confirmed Midline heart Orphanet:95443 Orphanet MONDO:0019807 mesocardia oio:hasExactSynonym mesocardia mesocardia Mesocardia Orphanet:95443 Mesocardia confirmed mesocardia Orphanet:95443 Orphanet MONDO:0019808 aortic valve atresia oio:hasExactSynonym congenital aortic valve atresia congenital aortic valve atresia Congenital aortic valve atresia Orphanet:95448 Congenital aortic valve atresia confirmed congenital aortic valve atresia Orphanet:95448 Orphanet -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym TEN Orphanet:3398 Thymic epithelial neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed TEN Orphanet:3398 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym SJS-TEN Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SJS-TEN Orphanet:95455 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019811 tricuspid valve agenesis oio:hasExactSynonym congenital unguarded tricuspid orifice congenital unguarded tricuspid orifice Congenital unguarded tricuspid orifice Orphanet:95457 Tricuspid valve agenesis confirmed congenital unguarded tricuspid orifice Orphanet:95457 Orphanet MONDO:0019823 premature closure of the arterial duct oio:hasExactSynonym premature closure of the patent ductus arteriosus premature closure of the patent ductus arteriosus Premature closure of the patent ductus arteriosus Orphanet:95486 Premature closure of the arterial duct confirmed premature closure of the patent ductus arteriosus Orphanet:95486 Orphanet @@ -109618,8 +106515,8 @@ MONDO:0019873 4p16.3 microduplication syndrome oio:hasExactSynonym trisomy 4pte MONDO:0019874 distal trisomy 7p oio:hasExactSynonym distal duplication 7p distal duplication 7p Distal duplication 7p Orphanet:96074 Distal duplication 7p confirmed distal duplication 7p Orphanet:96074 Orphanet MONDO:0019874 distal trisomy 7p oio:hasExactSynonym telomeric duplication 7p telomeric duplication 7p Telomeric duplication 7p Orphanet:96074 Distal duplication 7p confirmed telomeric duplication 7p Orphanet:96074 Orphanet MONDO:0019874 distal trisomy 7p oio:hasExactSynonym trisomy 7pter trisomy 7pter Trisomy 7pter Orphanet:96074 Distal duplication 7p confirmed trisomy 7pter Orphanet:96074 Orphanet -MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome confirmed Invdupdel(8p) Orphanet:96092 Orphanet MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Invdupdel(8p) invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome confirmed Invdupdel(8p) Orphanet:96092 Orphanet +MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym Invdupdel(8p) Orphanet:96092 8p inverted duplication/deletion syndrome confirmed Invdupdel(8p) Orphanet:96092 Orphanet MONDO:0019876 8p inverted duplication/deletion syndrome oio:hasExactSynonym inverted 8p duplication/deletion syndrome inverted 8p duplication/deletion syndrome Inverted 8p duplication/deletion syndrome Orphanet:96092 8p inverted duplication/deletion syndrome confirmed inverted 8p duplication/deletion syndrome Orphanet:96092 Orphanet MONDO:0019877 distal trisomy 2q oio:hasExactSynonym distal duplication 2q distal duplication 2q Distal duplication 2q Orphanet:96094 Distal duplication 2q confirmed distal duplication 2q Orphanet:96094 Orphanet MONDO:0019877 distal trisomy 2q oio:hasExactSynonym telomeric duplication 2q telomeric duplication 2q Telomeric duplication 2q Orphanet:96094 Distal duplication 2q confirmed telomeric duplication 2q Orphanet:96094 Orphanet @@ -109663,8 +106560,8 @@ MONDO:0019889 distal trisomy 22q oio:hasExactSynonym telomeric duplication 22q MONDO:0019889 distal trisomy 22q oio:hasExactSynonym trisomy 22qter trisomy 22qter Trisomy 22qter Orphanet:96109 Distal duplication 22q confirmed trisomy 22qter Orphanet:96109 Orphanet MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-distal duplication 9q non-distal duplication 9q Non-distal duplication 9q Orphanet:96112 Non-distal duplication 9q confirmed non-distal duplication 9q Orphanet:96112 Orphanet MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-telomeric trisomy 9q non-telomeric trisomy 9q Non-telomeric trisomy 9q Orphanet:96112 Non-distal duplication 9q confirmed non-telomeric trisomy 9q Orphanet:96112 Orphanet -MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 confirmed Del(22) Orphanet:96123 Orphanet MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Del(22) del(22) Orphanet:96123 Monosomy 22 confirmed Del(22) Orphanet:96123 Orphanet +MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 confirmed Del(22) Orphanet:96123 Orphanet MONDO:0019891 monosomy 22 oio:hasExactSynonym deletion 22 deletion 22 Deletion 22 Orphanet:96123 Monosomy 22 confirmed deletion 22 Orphanet:96123 Orphanet MONDO:0019892 distal monosomy 7p oio:hasExactSynonym distal deletion 7p distal deletion 7p Distal deletion 7p Orphanet:96126 Distal deletion 7p confirmed distal deletion 7p Orphanet:96126 Orphanet MONDO:0019892 distal monosomy 7p oio:hasExactSynonym monosomy 7pter monosomy 7pter Monosomy 7pter Orphanet:96126 Distal deletion 7p confirmed monosomy 7pter Orphanet:96126 Orphanet @@ -109677,8 +106574,8 @@ MONDO:0019895 distal monosomy 4q oio:hasExactSynonym telomeric deletion 4q telo MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9q subtelomeric deletion syndrome Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed 9q subtelomeric deletion syndrome Orphanet:96147 Orphanet MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym 9qSTDS Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed 9qSTDS Orphanet:96147 Orphanet MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed Kleefstra syndrome due to 9q subtelomeric deletion Orphanet:96147 Orphanet -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Orphanet MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to del(9)(q34) kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Orphanet +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed Kleefstra syndrome due to del(9)(q34) Orphanet:96147 Orphanet MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion oio:hasExactSynonym Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion confirmed Kleefstra syndrome due to monosomy 9q34 Orphanet:96147 Orphanet MONDO:0019897 distal monosomy 12q oio:hasExactSynonym distal deletion 12q distal deletion 12q Distal deletion 12q Orphanet:96149 Distal deletion 12q confirmed distal deletion 12q Orphanet:96149 Orphanet MONDO:0019897 distal monosomy 12q oio:hasExactSynonym monosomy 12qter monosomy 12qter Monosomy 12qter Orphanet:96149 Distal deletion 12q confirmed monosomy 12qter Orphanet:96149 Orphanet @@ -109702,8 +106599,8 @@ MONDO:0019914 maternal uniparental disomy of chromosome 9 oio:hasExactSynonym U MONDO:0019915 maternal uniparental disomy of chromosome 14 oio:hasExactSynonym UPD(14)mat Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 confirmed UPD(14)mat Orphanet:96184 Orphanet MONDO:0019916 maternal uniparental disomy of chromosome 16 oio:hasExactSynonym UPD(16)mat Orphanet:96185 Maternal uniparental disomy of chromosome 16 confirmed UPD(16)mat Orphanet:96185 Orphanet MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)mat Orphanet:96186 Maternal uniparental disomy of chromosome 20 confirmed UPD(20)mat Orphanet:96186 Orphanet -MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 confirmed maternal UPD(20) Orphanet:96186 Orphanet MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) Maternal UPD(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 confirmed maternal UPD(20) Orphanet:96186 Orphanet +MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 confirmed maternal UPD(20) Orphanet:96186 Orphanet MONDO:0019918 maternal uniparental disomy of chromosome 21 oio:hasExactSynonym UPD(21)mat Orphanet:96187 Maternal uniparental disomy of chromosome 21 confirmed UPD(21)mat Orphanet:96187 Orphanet MONDO:0019919 maternal uniparental disomy of chromosome 22 oio:hasExactSynonym UPD(22)mat Orphanet:96188 Maternal uniparental disomy of chromosome 22 confirmed UPD(22)mat Orphanet:96188 Orphanet MONDO:0019920 paternal uniparental disomy of chromosome 5 oio:hasExactSynonym UPD(5)pat Orphanet:96190 Paternal uniparental disomy of chromosome 5 confirmed UPD(5)pat Orphanet:96190 Orphanet @@ -109816,7 +106713,6 @@ MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystroph MONDO:0020088 familial partial lipodystrophy oio:hasExactSynonym FPLD Orphanet:98306 Familial partial lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FPLD Orphanet:98306 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020099 inherited sideroblastic anemia oio:hasExactSynonym constitutional sideroblastic anemia constitutional sideroblastic anemia Constitutional sideroblastic anemia Orphanet:98362 Constitutional sideroblastic anemia confirmed constitutional sideroblastic anemia Orphanet:98362 Orphanet MONDO:0020102 hereditary stomatocytosis oio:hasExactSynonym hereditary stomatocytic disease hereditary stomatocytic disease Hereditary stomatocytic disease Orphanet:98365 Hereditary stomatocytosis confirmed hereditary stomatocytic disease Orphanet:98365 Orphanet -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune hemolytic anemia autoimmune hemolytic anemia Autoimmune hemolytic anemia Orphanet:98375 Autoimmune hemolytic anemia confirmed autoimmune hemolytic anemia Orphanet:98375 Orphanet MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym AIHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -109830,7 +106726,6 @@ MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell dise MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease Orphanet:98503 Motor neuron disease confirmed motor neuron disease Orphanet:98503 Orphanet MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired anterior horn cell disease acquired anterior horn cell disease Acquired anterior horn cell disease Orphanet:98506 Acquired motor neuron disease confirmed acquired anterior horn cell disease Orphanet:98506 Orphanet MONDO:0020129 acquired motor neuron disease oio:hasExactSynonym acquired motor neuron disease acquired motor neuron disease Acquired motor neuron disease Orphanet:98506 Acquired motor neuron disease confirmed acquired motor neuron disease Orphanet:98506 Orphanet -MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:90035 Paroxysmal cold hemoglobinuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH Orphanet:90035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym pontoneocerebellar atrophy pontoneocerebellar atrophy Pontoneocerebellar atrophy Orphanet:98523 Non-syndromic pontocerebellar hypoplasia confirmed pontoneocerebellar atrophy Orphanet:98523 Orphanet MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym PCH Orphanet:98523 Non-syndromic pontocerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCH Orphanet:98523 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020212 superficial corneal dystrophy oio:hasExactSynonym anterior corneal dystrophy anterior corneal dystrophy Anterior corneal dystrophy Orphanet:98625 Superficial corneal dystrophy confirmed anterior corneal dystrophy Orphanet:98625 Orphanet @@ -109852,8 +106747,8 @@ MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym fa MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym familial focal epilepsy with variable foci familial focal epilepsy with variable foci Familial focal epilepsy with variable foci Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed familial focal epilepsy with variable foci Orphanet:98820 Orphanet MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia confirmed chronic myelomonocytic leukemia Orphanet:98823 Orphanet MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym CMML Orphanet:98823 Chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMML Orphanet:98823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) confirmed AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Orphanet MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) confirmed AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Orphanet +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) confirmed AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 Orphanet MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities oio:hasExactSynonym AML with 11q23 abnormalities Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities confirmed AML with 11q23 abnormalities Orphanet:98831 Orphanet MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym AML M2 Orphanet:98834 Acute myeloblastic leukemia with maturation confirmed AML M2 Orphanet:98834 Orphanet MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloblastic leukemia M2 acute myeloblastic leukemia M2 Acute myeloblastic leukemia M2 Orphanet:98834 Acute myeloblastic leukemia with maturation confirmed acute myeloblastic leukemia M2 Orphanet:98834 Orphanet @@ -109949,8 +106844,6 @@ MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym AS MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym ASD, coronary sinus type Orphanet:99104 Atrial septal defect, coronary sinus type confirmed ASD, coronary sinus type Orphanet:99104 Orphanet MONDO:0020435 atrial septal defect, coronary sinus type oio:hasExactSynonym unroofed coronary sinus unroofed coronary sinus Unroofed coronary sinus Orphanet:99104 Atrial septal defect, coronary sinus type confirmed unroofed coronary sinus Orphanet:99104 Orphanet MONDO:0020436 atrial septal defect, sinus venosus type oio:hasExactSynonym ASD, sinus venosus type Orphanet:99105 Atrial septal defect, sinus venosus type confirmed ASD, sinus venosus type Orphanet:99105 Orphanet -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym partial atrioventricular septal defect partial atrioventricular septal defect Partial atrioventricular septal defect Orphanet:1330 Partial atrioventricular septal defect confirmed partial atrioventricular septal defect Orphanet:1330 Orphanet -MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym PAVC Orphanet:1330 Partial atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PAVC Orphanet:1330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020437 atrial septal defect, ostium primum type oio:hasExactSynonym ASD, ostium primum type Orphanet:99106 Atrial septal defect, ostium primum type confirmed ASD, ostium primum type Orphanet:99106 Orphanet MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right SVC connecting to left-sided atrium right SVC connecting to left-sided atrium Right SVC connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium confirmed right SVC connecting to left-sided atrium Orphanet:99110 Orphanet MONDO:0020441 right superior vena cava connecting to left-sided atrium oio:hasExactSynonym right superior caval vein connecting to left-sided atrium right superior caval vein connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Orphanet:99110 Right superior vena cava connecting to left-sided atrium confirmed right superior caval vein connecting to left-sided atrium Orphanet:99110 Orphanet @@ -110055,8 +106948,6 @@ MONDO:0020554 Heiner syndrome oio:hasExactSynonym cow's milk hypersensitivity c MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K oio:hasExactSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym ATRT Orphanet:99966 Atypical teratoid rhabdoid tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATRT Orphanet:99966 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020561 myxoid/round cell liposarcoma oio:hasExactSynonym MRCLS Orphanet:99967 Myxoid/round cell liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MRCLS Orphanet:99967 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym pleomorphic liposarcoma pleomorphic liposarcoma Pleomorphic liposarcoma Orphanet:99969 Pleomorphic liposarcoma confirmed pleomorphic liposarcoma Orphanet:99969 Orphanet MONDO:0020562 pleomorphic liposarcoma oio:hasExactSynonym PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020563 dedifferentiated liposarcoma oio:hasExactSynonym dedifferentiated liposarcoma dedifferentiated liposarcoma Dedifferentiated liposarcoma Orphanet:99970 Dedifferentiated liposarcoma confirmed dedifferentiated liposarcoma Orphanet:99970 Orphanet @@ -110121,7 +107012,6 @@ MONDO:0021134 acquired factor X deficiency oio:hasExactSynonym aFX Orphanet:5 MONDO:0021141 acquired oio:hasExactSynonym not genetically inherited Orphanet:409941 not genetically inherited confirmed not genetically inherited Orphanet:409941 Orphanet MONDO:0021154 dermis disorder oio:hasExactSynonym other dermis disorder other dermis disorder Other dermis disorder Orphanet:79381 Other dermis disorder confirmed other dermis disorder Orphanet:79381 Orphanet MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid hemangioma Orphanet:675396 Epithelioid hemangioma confirmed epithelioid hemangioma Orphanet:675396 Orphanet -MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym Atypical LQT8 Orphanet:595109 Atypical Timothy syndrome confirmed Atypical LQT8 Orphanet:595109 Orphanet MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym atypical Timothy syndrome atypical Timothy syndrome Atypical Timothy syndrome Orphanet:595109 Atypical Timothy syndrome confirmed atypical Timothy syndrome Orphanet:595109 Orphanet MONDO:0021172 Timothy syndrome, atypical type oio:hasExactSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -110129,7 +107019,6 @@ MONDO:0021176 autoimmune hepatitis type 2 oio:hasExactSynonym autoimmune hepati MONDO:0021181 inherited blood coagulation disorder oio:hasExactSynonym rare genetic coagulation disorder rare genetic coagulation disorder Rare genetic coagulation disorder Orphanet:183654 Rare genetic coagulation disorder confirmed rare genetic coagulation disorder Orphanet:183654 Orphanet MONDO:0021427 squamous cell carcinoma of lip oio:hasExactSynonym squamous cell carcinoma of the Lip squamous cell carcinoma of the Lip Squamous cell carcinoma of the lip Orphanet:502366 Squamous cell carcinoma of the lip confirmed squamous cell carcinoma of the Lip Orphanet:502366 Orphanet MONDO:0021636 astrocytic tumor oio:hasExactSynonym astrocytic tumor astrocytic tumor Astrocytic tumor Orphanet:94 Astrocytoma confirmed astrocytic tumor Orphanet:94 Orphanet -MONDO:0021651 synpolydactyly oio:hasExactSynonym polysyndactyly polysyndactyly Polysyndactyly Orphanet:93338 Polysyndactyly confirmed polysyndactyly Orphanet:93338 Orphanet MONDO:0021651 synpolydactyly oio:hasExactSynonym syndactyly type 2 syndactyly type 2 Syndactyly type 2 Orphanet:93403 Syndactyly type 2 confirmed syndactyly type 2 Orphanet:93403 Orphanet MONDO:0021651 synpolydactyly oio:hasExactSynonym synpolydactyly synpolydactyly Synpolydactyly Orphanet:93403 Syndactyly type 2 confirmed synpolydactyly Orphanet:93403 Orphanet MONDO:0021660 deep seated dermatophytosis oio:hasExactSynonym deep dermatophytosis deep dermatophytosis Deep dermatophytosis Orphanet:397587 Deep dermatophytosis confirmed deep dermatophytosis Orphanet:397587 Orphanet @@ -110178,7 +107067,6 @@ MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic anter MONDO:0024257 hereditary motor neuron disease oio:hasExactSynonym genetic motor neuron disease genetic motor neuron disease Genetic motor neuron disease Orphanet:98505 Genetic motor neuron disease confirmed genetic motor neuron disease Orphanet:98505 Orphanet MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym adenocarcinoma of the vulva adenocarcinoma of the vulva Adenocarcinoma of the vulva Orphanet:494454 Vulvar adenocarcinoma confirmed adenocarcinoma of the vulva Orphanet:494454 Orphanet MONDO:0024336 vulvar adenocarcinoma oio:hasExactSynonym vulvar adenocarcinoma vulvar adenocarcinoma Vulvar adenocarcinoma Orphanet:494454 Vulvar adenocarcinoma confirmed vulvar adenocarcinoma Orphanet:494454 Orphanet -MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym PLAN Orphanet:329303 PLA2G6-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLAN Orphanet:329303 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Orphanet:35069 Infantile neuroaxonal dystrophy confirmed infantile neuroaxonal dystrophy Orphanet:35069 Orphanet MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym phospholipase A2-associated neurodegeneration phospholipase A2-associated neurodegeneration Phospholipase A2-associated neurodegeneration Orphanet:35069 Infantile neuroaxonal dystrophy confirmed phospholipase A2-associated neurodegeneration Orphanet:35069 Orphanet MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSynonym INAD inaD INAD Orphanet:35069 Infantile neuroaxonal dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed INAD Orphanet:35069 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -110294,10 +107182,10 @@ MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart def MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oio:hasExactSynonym hyaluronidase 2 deficiency hyaluronidase 2 deficiency Hyaluronidase 2 deficiency Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome confirmed hyaluronidase 2 deficiency Orphanet:508476 Orphanet MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oio:hasExactSynonym serpentine-like syndrome serpentine-like syndrome Serpentine-like syndrome Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome confirmed serpentine-like syndrome Orphanet:514352 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with BCR-ABL1 Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with BCR-ABL1 Orphanet:585867 Orphanet -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PCM1-JAK2 myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement confirmed myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Orphanet MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym Chung-Jansen syndrome Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome confirmed Chung-Jansen syndrome Orphanet:589905 Orphanet MONDO:0035149 secondary erythromelalgia oio:hasExactSynonym Secondary erythermalgia Orphanet:529864 Secondary erythromelalgia confirmed Secondary erythermalgia Orphanet:529864 Orphanet @@ -110418,7 +107306,6 @@ MONDO:0035679 Timothy syndrome type 2 oio:hasExactSynonym TS2 Orphanet:595105 MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency oio:hasExactSynonym CID due to RELA haploinsufficiency Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency confirmed CID due to RELA haploinsufficiency Orphanet:596759 Orphanet MONDO:0035696 incomplete septal cirrhosis oio:hasExactSynonym Incomplete septal fibrosis Orphanet:596941 Incomplete septal cirrhosis confirmed Incomplete septal fibrosis Orphanet:596941 Orphanet MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:599480 Acquired hemophilia A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHA Orphanet:599480 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0035735 acquired hemophilia A oio:hasExactSynonym AHA Orphanet:98375 Autoimmune hemolytic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHA Orphanet:98375 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0035736 acquired hemophilia B oio:hasExactSynonym AHB Orphanet:599485 Acquired hemophilia B http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AHB Orphanet:599485 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0035740 acquired factor XI deficiency oio:hasExactSynonym aFXI Orphanet:599507 Acquired factor XI deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed aFXI Orphanet:599507 Orphanet MONDO:0035742 factor V short isoforms-related bleeding disorder oio:hasExactSynonym FV short isoforms-related bleeding disorder Orphanet:599519 Factor V short isoforms-related bleeding disorder confirmed FV short isoforms-related bleeding disorder Orphanet:599519 Orphanet @@ -110445,8 +107332,8 @@ MONDO:0035879 granuloma faciale oio:hasExactSynonym Facial granuloma of Lever MONDO:0035879 granuloma faciale oio:hasExactSynonym Granuloma of Lever Orphanet:615943 Granuloma faciale confirmed Granuloma of Lever Orphanet:615943 Orphanet MONDO:0035882 chronic intervillositis of unknown etiology oio:hasExactSynonym CIUE Orphanet:615970 Chronic intervillositis of unknown etiology http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIUE Orphanet:615970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency oio:hasExactSynonym 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency confirmed 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Orphanet -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym BCR-ABL1-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed BCR-ABL1-like B-ALL Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym Philadelphia chromosome-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed Philadelphia chromosome-like B-ALL Orphanet:585909 Orphanet MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oio:hasExactSynonym B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) confirmed B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 Orphanet @@ -110490,8 +107377,8 @@ MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryofe MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym PTU embryopathy Orphanet:485358 Propylthiouracil embryofetopathy confirmed PTU embryopathy Orphanet:485358 Orphanet MONDO:0044619 propylthiouracil embryofetopathy oio:hasExactSynonym propylthiouracil embryopathy propylthiouracil embryopathy Propylthiouracil embryopathy Orphanet:485358 Propylthiouracil embryofetopathy confirmed propylthiouracil embryopathy Orphanet:485358 Orphanet MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym tetrasomy 16p12.1p12.3 tetrasomy 16p12.1p12.3 Tetrasomy 16p12.1p12.3 Orphanet:485405 16p12.1p12.3 triplication syndrome confirmed tetrasomy 16p12.1p12.3 Orphanet:485405 Orphanet -MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome confirmed trip(16)(p12.1p12.3) Orphanet:485405 Orphanet MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome confirmed trip(16)(p12.1p12.3) Orphanet:485405 Orphanet +MONDO:0044621 16p12.1p12.3 triplication syndrome oio:hasExactSynonym trip(16)(p12.1p12.3) trip(16)(p12.1p12.3) Trip(16)(p12.1p12.3) Orphanet:485405 16p12.1p12.3 triplication syndrome confirmed trip(16)(p12.1p12.3) Orphanet:485405 Orphanet MONDO:0044624 pediatric collagenous gastritis oio:hasExactSynonym childhood-onset collagenous gastritis childhood-onset collagenous gastritis Childhood-onset collagenous gastritis Orphanet:487809 Pediatric collagenous gastritis confirmed childhood-onset collagenous gastritis Orphanet:487809 Orphanet MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation oio:hasExactSynonym CMT2 due to DGAT2 mutation Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation confirmed CMT2 due to DGAT2 mutation Orphanet:487814 Orphanet MONDO:0044627 acute macular neuroretinopathy oio:hasExactSynonym AMNR Orphanet:488239 Acute macular neuroretinopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMNR Orphanet:488239 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -110538,8 +107425,8 @@ MONDO:0044688 isolated optic neuritis oio:hasExactSynonym ION ion ION Orphanet: MONDO:0044689 recurrent idiopathic neuroretinitis oio:hasExactSynonym RINR Orphanet:499103 Recurrent idiopathic neuroretinitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RINR Orphanet:499103 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0044705 paranasal sinus squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the nasal cavity and sinuses squamous cell carcinoma of the nasal cavity and sinuses Squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses confirmed squamous cell carcinoma of the nasal cavity and sinuses Orphanet:500464 Orphanet MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oio:hasExactSynonym mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome confirmed mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Orphanet:502423 Orphanet -MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome confirmed proximal del(4)(q25) Orphanet:502437 Orphanet MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) proximal del(4)(q25) Proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome confirmed proximal del(4)(q25) Orphanet:502437 Orphanet +MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal del(4)(q25) Orphanet:502437 4q25 proximal deletion syndrome confirmed proximal del(4)(q25) Orphanet:502437 Orphanet MONDO:0044717 4q25 proximal deletion syndrome oio:hasExactSynonym proximal monosomy 4q25 proximal monosomy 4q25 Proximal monosomy 4q25 Orphanet:502437 4q25 proximal deletion syndrome confirmed proximal monosomy 4q25 Orphanet:502437 Orphanet MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 Alkaline ceramidase 3 deficiency confirmed ACER3-related early childhood-onset progressive leukodystrophy Orphanet:502444 Orphanet MONDO:0044718 alkaline ceramidase 3 deficiency oio:hasExactSynonym leukodystrophy due to alkaline ceramidase 3 deficiency leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 Alkaline ceramidase 3 deficiency confirmed leukodystrophy due to alkaline ceramidase 3 deficiency Orphanet:502444 Orphanet @@ -110619,7 +107506,6 @@ MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated c MONDO:0100133 mitochondrial complex I deficiency oio:hasExactSynonym isolated mitochondrial respiratory chain complex I deficiency isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 Isolated complex I deficiency confirmed isolated mitochondrial respiratory chain complex I deficiency Orphanet:2609 Orphanet MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome confirmed SATB2-associated syndrome Orphanet:576278 Orphanet MONDO:0100147 SATB2 associated disorder oio:hasExactSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:224 Neonatal diabetes mellitus confirmed monogenic diabetes of infancy Orphanet:224 Orphanet MONDO:0100164 permanent neonatal diabetes mellitus oio:hasExactSynonym monogenic diabetes of infancy monogenic diabetes of infancy Monogenic diabetes of infancy Orphanet:99885 Isolated permanent neonatal diabetes mellitus confirmed monogenic diabetes of infancy Orphanet:99885 Orphanet MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym GTPCH deficiency Orphanet:2102 GTP cyclohydrolase I deficiency confirmed GTPCH deficiency Orphanet:2102 Orphanet MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia oio:hasExactSynonym hyperphenylalaninemia due to GTP cyclohydrolase deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 GTP cyclohydrolase I deficiency confirmed hyperphenylalaninemia due to GTP cyclohydrolase deficiency Orphanet:2102 Orphanet @@ -110688,8 +107574,8 @@ MONDO:0100508 salivary gland type cancer of the breast oio:hasExactSynonym sali MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym deoxyguanosine kinase deficiency deoxyguanosine kinase deficiency Deoxyguanosine kinase deficiency Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form confirmed deoxyguanosine kinase deficiency Orphanet:254871 Orphanet MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form confirmed mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Orphanet MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oio:hasExactSynonym Kozlowski-Tsuruta syndrome Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type confirmed Kozlowski-Tsuruta syndrome Orphanet:2204 Orphanet -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Del(16)(p13.2) del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet +MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16P13.2 deletion syndrome chromosome 16P13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed chromosome 16P13.2 deletion syndrome Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16p13.2 deletion syndrome chromosome 16p13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed chromosome 16p13.2 deletion syndrome Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym monosomy 16p13.2 monosomy 16p13.2 Monosomy 16p13.2 Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed monosomy 16p13.2 Orphanet:500055 Orphanet @@ -110702,8 +107588,8 @@ MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym HAE w MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioedema with normal C1 inhibitor hereditary angioedema with normal C1 inhibitor Hereditary angioedema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh confirmed hereditary angioedema with normal C1 inhibitor Orphanet:528647 Orphanet MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1 inhibitor hereditary angioneurotic edema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 Hereditary angioedema with normal C1Inh confirmed hereditary angioneurotic edema with normal C1 inhibitor Orphanet:528647 Orphanet MONDO:0100567 hereditary angioedema with normal C1Inh oio:hasExactSynonym hereditary angioneurotic edema with normal C1Inh hereditary angioneurotic edema with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Orphanet:528647 Hereditary angioedema with normal C1Inh confirmed hereditary angioneurotic edema with normal C1Inh Orphanet:528647 Orphanet -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) confirmed B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 Orphanet MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) confirmed B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 Orphanet +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) oio:hasExactSynonym B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) confirmed B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Orphanet:585956 Orphanet MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia confirmed Paroxystic non-kinesigenic choreoathetosis Orphanet:98810 Orphanet MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym 4H leukodystrophy Orphanet:289494 4H leukodystrophy confirmed 4H leukodystrophy Orphanet:289494 Orphanet MONDO:0700282 POLR3-related leukodystrophy oio:hasExactSynonym POLR-related leukodystrophy Orphanet:289494 4H leukodystrophy confirmed POLR-related leukodystrophy Orphanet:289494 Orphanet @@ -110727,8 +107613,6 @@ MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasE MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant oio:hasExactSynonym FDFM Orphanet:324588 Familial dyskinesia and facial myokymia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FDFM Orphanet:324588 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Orphanet:2032 Idiopathic pulmonary fibrosis confirmed Idiopathic Pulmonary Fibrosis Orphanet:2032 Orphanet MONDO:0800029 interstitial lung disease 2 oio:hasExactSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia confirmed familial intestinal polyatresia syndrome Orphanet:2300 Orphanet -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym FIPA Orphanet:314777 Familial isolated pituitary adenoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FIPA Orphanet:314777 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum confirmed CID-MIA/early-onset IBD Orphanet:436252 Orphanet MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 oio:hasExactSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum confirmed combined immunodeficiency-enteropathy spectrum Orphanet:436252 Orphanet MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym Schwartz-Jampel syndrome type 2 Orphanet:3206 Stüve-Wiedemann syndrome confirmed Schwartz-Jampel syndrome type 2 Orphanet:3206 Orphanet @@ -110787,25 +107671,16 @@ MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0000437 cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym rare ataxia rare ataxia Rare ataxia Orphanet:102002 Rare ataxia Orphanet:102002 updated rare ataxia Orphanet:102002 Orphanet MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome Orphanet:51083 Familial short QT syndrome Orphanet:51083 updated familial short QT syndrome Orphanet:51083 Orphanet MONDO:0000455 cone dystrophy oio:hasExactSynonym oio:hasNarrowSynonym progressive cone dystrophy progressive cone dystrophy Progressive cone dystrophy Orphanet:1871 Progressive cone dystrophy https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871 updated progressive cone dystrophy Orphanet:1871 Orphanet -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:D004422 updated Idiopathic torsion dystonia Orphanet:256 Orphanet -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia musculorum deformans dystonia musculorum deformans Dystonia musculorum deformans Orphanet:256 Early-onset generalized limb-onset dystonia DOID:0050835 updated dystonia musculorum deformans Orphanet:256 Orphanet -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia ICD9CM:333.6, DOID:0050835 updated idiopathic torsion dystonia Orphanet:256 Orphanet -MONDO:0000476 generalized dystonia oio:hasExactSynonym oio:hasRelatedSynonym dystonia 12 dystonia 12 Dystonia 12 Orphanet:71517 Rapid-onset dystonia-parkinsonism DOID:0050835 updated dystonia 12 Orphanet:71517 Orphanet MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary essential myoclonus Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 updated Hereditary essential myoclonus Orphanet:36899 Orphanet MONDO:0000903 myoclonus-dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym alcohol-responsive dystonia alcohol-responsive dystonia Alcohol-responsive dystonia Orphanet:36899 Myoclonus-dystonia syndrome MESH:C536096 updated alcohol-responsive dystonia Orphanet:36899 Orphanet MONDO:0000995 familial periodic paralysis oio:hasExactSynonym oio:hasRelatedSynonym genetic periodic paralysis genetic periodic paralysis Genetic periodic paralysis Orphanet:371433 Genetic periodic paralysis Orphanet:371433, GARD:0006422 updated genetic periodic paralysis Orphanet:371433 Orphanet -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus flea-borne typhus Flea-borne typhus Orphanet:83315 Murine typhus DOID:11256 updated flea-borne typhus Orphanet:83315 Orphanet -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus murine typhus Murine typhus Orphanet:83315 Murine typhus DOID:11256 updated murine typhus Orphanet:83315 Orphanet MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis Orphanet:280892 Posterior uveitis NORD:1601 updated Posterior Uveitis Orphanet:280892 Orphanet MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis Orphanet:280892 Posterior uveitis MONDO:ambiguous, NCIT:C35111 updated posterior uveitis Orphanet:280892 Orphanet MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis Orphanet:3386 American trypanosomiasis DOID:12140 updated American trypanosomiasis Orphanet:3386 Orphanet -MONDO:0001586 mucopolysaccharidosis type 1 oio:hasExactSynonym oio:hasNarrowSynonym Hurler syndrome Orphanet:93473 Hurler syndrome DOID:12802 updated Hurler syndrome Orphanet:93473 Orphanet MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasNarrowSynonym BHC Orphanet:1429 Benign hereditary chorea http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118700 updated BHC Orphanet:1429 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0001713 inherited aplastic anemia oio:hasExactSynonym oio:hasNarrowSynonym rare constitutional aplastic anemia rare constitutional aplastic anemia Rare constitutional aplastic anemia Orphanet:68383 Rare constitutional aplastic anemia Orphanet:68383 updated rare constitutional aplastic anemia Orphanet:68383 Orphanet MONDO:0002013 lymphangioma oio:hasExactSynonym oio:hasRelatedSynonym LM Orphanet:2415 Rare lymphatic malformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2415 updated LM Orphanet:2415 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:66637 Diaphanospondylodysostosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 updated DSD Orphanet:66637 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0002145 disorder of sexual differentiation oio:hasExactSynonym oio:hasBroadSynonym DSD Orphanet:90771 Difference of sex development http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:90771 updated DSD Orphanet:90771 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0002429 idiopathic interstitial pneumonia oio:hasExactSynonym oio:hasRelatedSynonym IPF Orphanet:2032 Idiopathic pulmonary fibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:2797 updated IPF Orphanet:2032 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0002525 inherited lipid metabolism disorder oio:hasExactSynonym oio:hasBroadSynonym disorder of lipid metabolism disorder of lipid metabolism Disorder of lipid metabolism Orphanet:309005 Disorder of lipid metabolism MONDO:0017707 updated disorder of lipid metabolism Orphanet:309005 Orphanet MONDO:0002653 Paget disease of the penis oio:hasExactSynonym oio:hasRelatedSynonym adenocarcinoma of the penis adenocarcinoma of the penis Adenocarcinoma of the penis Orphanet:398053 Adenocarcinoma of the penis Orphanet:398053 updated adenocarcinoma of the penis Orphanet:398053 Orphanet MONDO:0002687 superior mesenteric artery syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wilkie syndrome Orphanet:622099 Superior mesenteric artery syndrome GARD:0007712 updated Wilkie syndrome Orphanet:622099 Orphanet @@ -110822,25 +107697,18 @@ MONDO:0004069 inborn mitochondrial metabolism disorder oio:hasExactSynonym oio:h MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym small cell carcinoma of the bladder small cell carcinoma of the bladder Small cell carcinoma of the bladder Orphanet:284400 Small cell carcinoma of the bladder Orphanet:284400 updated small cell carcinoma of the bladder Orphanet:284400 Orphanet MONDO:0004234 chronic lymphoproliferative disorder of NK-cells oio:hasExactSynonym oio:hasRelatedSynonym chronic lymphoproliferative disorder of natural killer cells chronic lymphoproliferative disorder of natural killer cells Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 updated chronic lymphoproliferative disorder of natural killer cells Orphanet:512017 Orphanet MONDO:0004334 non-functional pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym non-functioning neuroendocrine tumor of pancreas non-functioning neuroendocrine tumor of pancreas Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas Orphanet:506075 updated non-functioning neuroendocrine tumor of pancreas Orphanet:506075 Orphanet -MONDO:0004380 dendritic cell sarcoma oio:hasExactSynonym oio:hasRelatedSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma Orphanet:86902 Follicular dendritic cell sarcoma DOID:7849 updated follicular dendritic cell sarcoma Orphanet:86902 Orphanet MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym oio:hasRelatedSynonym glassy cell carcinoma of the cervix uteri glassy cell carcinoma of the cervix uteri Glassy cell carcinoma of the cervix uteri Orphanet:213833 Glassy cell carcinoma of the cervix uteri Orphanet:213833 updated glassy cell carcinoma of the cervix uteri Orphanet:213833 Orphanet MONDO:0004739 urea cycle disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of urea cycle metabolism and ammonia detoxification disorder of urea cycle metabolism and ammonia detoxification Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 updated disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167 Orphanet MONDO:0004745 priapism oio:hasExactSynonym oio:hasNarrowSynonym low-flow priapism low-flow priapism Low-flow priapism Orphanet:140949 Low-flow priapism Orphanet:140949 updated low-flow priapism Orphanet:140949 Orphanet MONDO:0004948 B-cell chronic lymphocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym small lymphocytic lymphoma small lymphocytic lymphoma Small lymphocytic lymphoma Orphanet:67038 B-cell chronic lymphocytic leukemia Orphanet:67038 updated small lymphocytic lymphoma Orphanet:67038 Orphanet -MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym familial dilated cardiomyopathy familial dilated cardiomyopathy Familial dilated cardiomyopathy Orphanet:217607 Familial dilated cardiomyopathy DOID:12930, MESH:C536231 updated familial dilated cardiomyopathy Orphanet:217607 Orphanet MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET Orphanet:3318 Essential thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C3407, Orphanet:3318 updated ET Orphanet:3318 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0005100 systemic sclerosis oio:hasExactSynonym oio:hasBroadSynonym Scleroderma Orphanet:801 Scleroderma DOID:418 updated Scleroderma Orphanet:801 Orphanet MONDO:0005103 well-differentiated liposarcoma oio:hasExactSynonym oio:hasBroadSynonym atypical lipomatous tumor atypical lipomatous tumor Atypical lipomatous tumor Orphanet:99971 Well-differentiated liposarcoma Orphanet:99971 updated atypical lipomatous tumor Orphanet:99971 Orphanet -MONDO:0005201 restrictive cardiomyopathy oio:hasExactSynonym oio:hasNarrowSynonym familial restrictive cardiomyopathy familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Orphanet:217635 Familial restrictive cardiomyopathy DOID:397 updated familial restrictive cardiomyopathy Orphanet:217635 Orphanet -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym oio:hasRelatedSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma Orphanet:319319 Renal medullary carcinoma DOID:4464, NCIT:C7572 updated renal medullary carcinoma Orphanet:319319 Orphanet MONDO:0005321 Fuchs' endothelial dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Fuchs endothelial corneal dystrophy Orphanet:98974 Fuchs endothelial corneal dystrophy Orphanet:98974 updated Fuchs endothelial corneal dystrophy Orphanet:98974 Orphanet -MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym foodborne botulism foodborne botulism Foodborne botulism Orphanet:228371 Foodborne botulism DOID:11976 updated foodborne botulism Orphanet:228371 Orphanet MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma Orphanet:86855 Plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 updated solitary plasmacytoma Orphanet:86855 Orphanet MONDO:0005645 ancylostomiasis oio:hasExactSynonym oio:hasBroadSynonym hookworm infection hookworm infection Hookworm infection Orphanet:78 Ankylostomiasis Orphanet:78 updated hookworm infection Orphanet:78 Orphanet MONDO:0005674 bone giant cell tumor oio:hasExactSynonym oio:hasRelatedSynonym osteoclastoma osteoclastoma Osteoclastoma Orphanet:363976 Giant cell tumor of bone DOID:4305 updated osteoclastoma Orphanet:363976 Orphanet MONDO:0005774 glanders oio:hasExactSynonym oio:hasRelatedSynonym Burkholderia mallei infection Orphanet:659908 Glanders GARD:0009536 updated Burkholderia mallei infection Orphanet:659908 Orphanet MONDO:0005815 pancreatic neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of pancreas neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of pancreas Orphanet:506052 Neuroendocrine neoplasm of pancreas Orphanet:506052 updated neuroendocrine neoplasm of pancreas Orphanet:506052 Orphanet -MONDO:0005835 Lynch syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Orphanet:443909 Hereditary nonpolyposis colon cancer DOID:3883 updated hereditary nonpolyposis colorectal cancer Orphanet:443909 Orphanet MONDO:0005893 pancreatic endocrine carcinoma oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine carcinoma of pancreas neuroendocrine carcinoma of pancreas Neuroendocrine carcinoma of pancreas Orphanet:506098 Neuroendocrine carcinoma of pancreas Orphanet:506098 updated neuroendocrine carcinoma of pancreas Orphanet:506098 Orphanet MONDO:0006037 hydrolethalus syndrome oio:hasExactSynonym oio:hasRelatedSynonym hydrolethalus hydrolethalus Hydrolethalus Orphanet:2189 Hydrolethalus Orphanet:2189 updated hydrolethalus Orphanet:2189 Orphanet MONDO:0006045 ovarian clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym clear cell adenocarcinoma of the ovary clear cell adenocarcinoma of the ovary Clear cell adenocarcinoma of the ovary Orphanet:398971 Clear cell adenocarcinoma of the ovary Orphanet:398971 updated clear cell adenocarcinoma of the ovary Orphanet:398971 Orphanet @@ -110861,40 +107729,27 @@ MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-derm MONDO:0007080 glucocorticoid-remediable aldosteronism oio:hasExactSynonym oio:hasRelatedSynonym familial hyperaldosteronism type I familial hyperaldosteronism type I Familial hyperaldosteronism type I Orphanet:403 Familial hyperaldosteronism type I Orphanet:403 updated familial hyperaldosteronism type I Orphanet:403 Orphanet MONDO:0007095 ameloonychohypohidrotic syndrome oio:hasExactSynonym oio:hasRelatedSynonym amelo-onycho-hypohidrotic syndrome amelo-onycho-hypohidrotic syndrome Amelo-onycho-hypohidrotic syndrome Orphanet:1028 Amelo-onycho-hypohidrotic syndrome ISBN-13:978-88-470-0687-4 updated amelo-onycho-hypohidrotic syndrome Orphanet:1028 Orphanet MONDO:0007097 Finnish type amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym AGel amyloidosis Orphanet:85448 AGel amyloidosis Orphanet:85448 updated AGel amyloidosis Orphanet:85448 Orphanet -MONDO:0007098 ACys amyloidosis oio:hasExactSynonym oio:hasBroadSynonym cerebral amyloid angiopathy cerebral amyloid angiopathy Cerebral Amyloid Angiopathy Orphanet:85458 Cerebral Amyloid Angiopathy OMIM:105150, OMIM:genemap2 updated cerebral amyloid angiopathy Orphanet:85458 Orphanet -MONDO:0007101 familial primary localized cutaneous amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary localized cutaneous amyloidosis primary localized cutaneous amyloidosis Primary localized cutaneous amyloidosis Orphanet:137807 Primary cutaneous amyloidosis GARD:0000132 updated primary localized cutaneous amyloidosis Orphanet:137807 Orphanet MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym oio:hasRelatedSynonym hereditary neurocutaneous malformation hereditary neurocutaneous malformation Hereditary neurocutaneous malformation Orphanet:1062 Hereditary neurocutaneous malformation Orphanet:1062 updated hereditary neurocutaneous malformation Orphanet:1062 Orphanet MONDO:0007118 isolated anhidrosis with normal sweat glands oio:hasExactSynonym oio:hasRelatedSynonym isolated generalized anhidrosis with normal sweat glands isolated generalized anhidrosis with normal sweat glands Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands Orphanet:468666 updated isolated generalized anhidrosis with normal sweat glands Orphanet:468666 Orphanet MONDO:0007127 diffuse idiopathic skeletal hyperostosis oio:hasExactSynonym oio:hasRelatedSynonym ankylosing vertebral hyperostosis with tylosis ankylosing vertebral hyperostosis with tylosis Ankylosing vertebral hyperostosis with tylosis Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis OMIM:106400 updated ankylosing vertebral hyperostosis with tylosis Orphanet:2206 Orphanet -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome DOID:4297 updated scimitar syndrome Orphanet:185 Orphanet MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym oio:hasRelatedSynonym renal-Ear-anal-radial syndrome renal-Ear-anal-radial syndrome Renal-ear-anal-radial syndrome Orphanet:857 Townes-Brocks syndrome OMIM:107480 updated renal-Ear-anal-radial syndrome Orphanet:857 Orphanet -MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym oio:hasRelatedSynonym ACC Orphanet:1501 Adrenocortical carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:107600 updated ACC Orphanet:1501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 updated arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 Orphanet -MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym APCA Orphanet:624244 Postinfectious cerebellitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009602 updated APCA Orphanet:624244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007163 episodic ataxia type 2 oio:hasExactSynonym oio:hasRelatedSynonym familial paroxysmal ataxia familial paroxysmal ataxia Familial paroxysmal ataxia Orphanet:97 Familial paroxysmal ataxia Orphanet:97 updated familial paroxysmal ataxia Orphanet:97 Orphanet MONDO:0007164 spastic ataxia 1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic ataxia type 1 autosomal dominant spastic ataxia type 1 Autosomal dominant spastic ataxia type 1 Orphanet:251282 Autosomal dominant spastic ataxia type 1 Orphanet:251282 updated autosomal dominant spastic ataxia type 1 Orphanet:251282 Orphanet MONDO:0007165 spastic ataxia 7 oio:hasExactSynonym oio:hasRelatedSynonym spastic ataxia with congenital miosis spastic ataxia with congenital miosis Spastic ataxia with congenital miosis Orphanet:1182 Spastic ataxia with congenital miosis OMIM:108650 updated spastic ataxia with congenital miosis Orphanet:1182 Orphanet MONDO:0007168 atelosteogenesis type III oio:hasExactSynonym oio:hasRelatedSynonym AOIII Aoiii AOIII Orphanet:56305 Atelosteogenesis type III http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:108721 updated AOIII Orphanet:56305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy Orphanet:86813 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 updated SVEINSSON chorioretinal atrophy Orphanet:86813 Orphanet -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome oio:hasExactSynonym oio:hasRelatedSynonym BPES type 1 Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 GARD:0000023 updated BPES type 1 Orphanet:572354 Orphanet MONDO:0007209 Weismann-Netter syndrome oio:hasExactSynonym oio:hasRelatedSynonym Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose Diaphysaire Tibio-Peroniere Toxopachyosteose diaphysaire tibio-peroniere Orphanet:3344 Weismann-Netter syndrome OMIM:112350 updated Toxopachyosteose Diaphysaire Tibio-Peroniere Orphanet:3344 Orphanet MONDO:0007219 Osebold-Remondini syndrome oio:hasExactSynonym oio:hasRelatedSynonym OSEBOLD-Remondini syndrome OSEBOLD-Remondini syndrome Osebold-Remondini syndrome Orphanet:93382 Brachydactyly type A6 OMIM:112910 updated OSEBOLD-Remondini syndrome Orphanet:93382 Orphanet -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma Orphanet:449 Hepatoblastoma OMIM:114550 updated hepatoblastoma Orphanet:449 Orphanet -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasBroadSynonym leukocyte adhesion deficiency leukocyte adhesion deficiency Leukocyte adhesion deficiency Orphanet:2968 Leukocyte adhesion deficiency OMIM:116920, OMIM:genemap2 updated leukocyte adhesion deficiency Orphanet:2968 Orphanet -MONDO:0007293 leukocyte adhesion deficiency 1 oio:hasExactSynonym oio:hasRelatedSynonym LAD lad LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:116920 updated LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome Orphanet:1393 Cerebrocostomandibular syndrome OMIM:117650 updated CEREBROCOSTOMANDIBULAR syndrome Orphanet:1393 Orphanet MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2A1 autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 updated autosomal dominant Charcot-Marie-Tooth disease type 2A1 Orphanet:99946 Orphanet MONDO:0007315 cherubism oio:hasExactSynonym oio:hasRelatedSynonym CRBM Crbm CRBM Orphanet:184 Cherubism http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:118400 updated CRBM Orphanet:184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007330 congenital pseudoarthrosis of clavicle oio:hasExactSynonym oio:hasRelatedSynonym congenital pseudoarthrosis of the clavicle congenital pseudoarthrosis of the clavicle Congenital pseudoarthrosis of the clavicle Orphanet:66630 Congenital pseudoarthrosis of the clavicle Orphanet:66630 updated congenital pseudoarthrosis of the clavicle Orphanet:66630 Orphanet MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasBroadSynonym facio-genito-popliteal syndrome facio-genito-popliteal syndrome Facio-genito-popliteal syndrome Orphanet:1300 Autosomal dominant popliteal pterygium syndrome Orphanet:1300 updated facio-genito-popliteal syndrome Orphanet:1300 Orphanet -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome Orphanet:294963 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 updated popliteal pterygium syndrome Orphanet:294963 Orphanet MONDO:0007337 cleft palate-lateral synechia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cpls syndrome Cpls syndrome CPLS syndrome Orphanet:2016 Cleft palate-lateral synechia syndrome OMIM:119550 updated Cpls syndrome Orphanet:2016 Orphanet MONDO:0007339 blepharocheilodontic syndrome oio:hasExactSynonym oio:hasRelatedSynonym Elschnig syndrome Orphanet:1997 Blepharo-cheilo-odontic syndrome OMIM:119580, GARD:0002071 updated Elschnig syndrome Orphanet:1997 Orphanet -MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym morning glory Disc anomaly morning glory Disc anomaly Morning glory disc anomaly Orphanet:35737 Morning glory disc anomaly OMIM:120430 updated morning glory Disc anomaly Orphanet:35737 Orphanet MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc Orphanet:98947 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 updated coloboma of optic disc Orphanet:98947 Orphanet MONDO:0007368 familial benign copper deficiency oio:hasExactSynonym oio:hasRelatedSynonym familial benign hypocupremia familial benign hypocupremia Familial benign hypocupremia Orphanet:1551 Familial benign copper deficiency GARD:0001522 updated familial benign hypocupremia Orphanet:1551 Orphanet -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria Orphanet:659672 Harderoporphyria OMIM:121300 updated Harderoporphyria Orphanet:659672 Orphanet -MONDO:0007376 fleck corneal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym CFD Cfd CFD Orphanet:1987 Isolated femoral agenesis/hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:121850 updated CFD Orphanet:1987 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym CORNEODERMATOOSSEOUS syndrome CORNEODERMATOOSSEOUS syndrome Corneodermatoosseous syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 updated CORNEODERMATOOSSEOUS syndrome Orphanet:3194 Orphanet MONDO:0007383 Stern-Lubinsky-Durrie syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cdo syndrome Cdo syndrome CDO syndrome Orphanet:3194 Corneodermatoosseous syndrome OMIM:122440 updated Cdo syndrome Orphanet:3194 Orphanet MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym monosomy 5p monosomy 5p Monosomy 5p Orphanet:281 Monosomy 5p Orphanet:281 updated monosomy 5p Orphanet:281 Orphanet @@ -110903,14 +107758,9 @@ MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym oio:hasR MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ddod syndrome Ddod syndrome DDOD syndrome Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome OMIM:124480 updated Ddod syndrome Orphanet:79499 Orphanet MONDO:0007435 dentatorubral-pallidoluysian atrophy oio:hasExactSynonym oio:hasRelatedSynonym dentatorubral pallidoluysian atrophy dentatorubral pallidoluysian atrophy Dentatorubral pallidoluysian atrophy Orphanet:101 Dentatorubral pallidoluysian atrophy Orphanet:101 updated dentatorubral pallidoluysian atrophy Orphanet:101 Orphanet MONDO:0007437 dentin dysplasia type II oio:hasExactSynonym oio:hasRelatedSynonym DTDP2 Dtdp2 DTDP2 Orphanet:99791 Dentin dysplasia type II http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125420 updated DTDP2 Orphanet:99791 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym dentinogenesis imperfecta without osteogenesis imperfecta dentinogenesis imperfecta without osteogenesis imperfecta Dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 updated dentinogenesis imperfecta without osteogenesis imperfecta Orphanet:49042 Orphanet -MONDO:0007441 dentinogenesis imperfecta type 2 oio:hasExactSynonym oio:hasRelatedSynonym opalescent teeth without osteogenesis imperfecta opalescent teeth without osteogenesis imperfecta Opalescent teeth without osteogenesis imperfecta Orphanet:49042 Dentinogenesis imperfecta OMIM:125490 updated opalescent teeth without osteogenesis imperfecta Orphanet:49042 Orphanet -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris oio:hasExactSynonym oio:hasRelatedSynonym Cayler cardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:125520 updated Cayler cardiofacial syndrome Orphanet:567 Orphanet MONDO:0007449 dermo-odonto dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DERMOODONTODYSPLASIA DERMOODONTODYSPLASIA Dermoodontodysplasia Orphanet:1660 Dermoodontodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:125640 updated DERMOODONTODYSPLASIA Orphanet:1660 Orphanet -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus neurogenic diabetes insipidus Neurogenic diabetes insipidus Orphanet:178029 Arginine vasopressin deficiency NCIT:C84933 updated neurogenic diabetes insipidus Orphanet:178029 Orphanet MONDO:0007471 Doyne honeycomb retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym familial drusen familial drusen Familial drusen Orphanet:75376 Familial drusen Orphanet:75376 updated familial drusen Orphanet:75376 Orphanet MONDO:0007477 3-M syndrome oio:hasExactSynonym oio:hasRelatedSynonym 3M syndrome Orphanet:2616 3M syndrome MESH:C535314 updated 3M syndrome Orphanet:2616 Orphanet -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome oio:hasExactSynonym oio:hasBroadSynonym Kenny syndrome Orphanet:2333 Kenny-Caffey syndrome OMIM:127000 updated Kenny syndrome Orphanet:2333 Orphanet MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset Primary dystonia Early-onset Primary dystonia Early-onset primary dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 updated Early-onset Primary dystonia Orphanet:256 Orphanet MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym Early-onset torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia MESH:C538005 updated Early-onset torsion dystonia Orphanet:256 Orphanet MONDO:0007492 early-onset generalized limb-onset dystonia oio:hasExactSynonym oio:hasRelatedSynonym idiopathic torsion dystonia idiopathic torsion dystonia Idiopathic torsion dystonia Orphanet:256 Early-onset generalized limb-onset dystonia Orphanet:256 updated idiopathic torsion dystonia Orphanet:256 Orphanet @@ -110924,72 +107774,47 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oi MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasia Ehlers-Danlos syndrome arthrochalasia Ehlers-Danlos syndrome Arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084 updated arthrochalasia Ehlers-Danlos syndrome Orphanet:1899 Orphanet MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym arthrochalasis multiplex congenita arthrochalasis multiplex congenita Arthrochalasis multiplex congenita Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome GARD:0002084, MESH:C562625, OMIM:130060 updated arthrochalasis multiplex congenita Orphanet:1899 Orphanet MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type oio:hasExactSynonym oio:hasRelatedSynonym AEDS AEDS aEDS Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0002084 updated AEDS Orphanet:1899 Orphanet -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym spondylodysplastic Ehlers-Danlos syndrome spondylodysplastic Ehlers-Danlos syndrome Spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome GARD:0009991 updated spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 Orphanet MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym pEDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 updated pEDS Orphanet:75392 Orphanet MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal EDS periodontal EDS Periodontal EDS Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 updated periodontal EDS Orphanet:75392 Orphanet MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type oio:hasExactSynonym oio:hasRelatedSynonym periodontal Ehlers-Danlos syndrome periodontal Ehlers-Danlos syndrome Periodontal Ehlers-Danlos syndrome Orphanet:75392 Periodontal Ehlers-Danlos syndrome GARD:0012474 updated periodontal Ehlers-Danlos syndrome Orphanet:75392 Orphanet -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:2377 Laurence-Moon syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 updated LMS Orphanet:2377 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007537 lateral meningocele syndrome oio:hasExactSynonym oio:hasRelatedSynonym LMS Lms LMS Orphanet:69085 Limb-mammary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:130720 updated LMS Orphanet:69085 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007542 Camurati-Engelmann disease oio:hasExactSynonym oio:hasRelatedSynonym CED Orphanet:1515 Cranioectodermal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:131300 updated CED Orphanet:1515 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe oio:hasExactSynonym oio:hasRelatedSynonym epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form MONDO:Lexical, OMIM:131760 updated epidermolysis bullosa simplex, Dowling-Meara type Orphanet:79396 Orphanet MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation oio:hasExactSynonym oio:hasRelatedSynonym EBS with mottled pigmentation Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation GARD:0009737 updated EBS with mottled pigmentation Orphanet:79397 Orphanet MONDO:0007572 primary familial polycythemia due to EPO receptor mutation oio:hasExactSynonym oio:hasRelatedSynonym primary familial polycythemia primary familial polycythemia Primary familial polycythemia Orphanet:90042 Primary familial polycythemia Orphanet:90042 updated primary familial polycythemia Orphanet:90042 Orphanet -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Rasmussen syndrome Orphanet:1929 Rasmussen subacute encephalitis OMIM:133705 updated Rasmussen syndrome Orphanet:1929 Orphanet MONDO:0007590 hemifacial hypertrophy oio:hasExactSynonym oio:hasRelatedSynonym hemifacial hyperplasia hemifacial hyperplasia Hemifacial hyperplasia Orphanet:141145 Hemifacial hyperplasia OMIM:133900 updated hemifacial hyperplasia Orphanet:141145 Orphanet MONDO:0007600 primary Fanconi syndrome oio:hasExactSynonym oio:hasNarrowSynonym primary Fanconi renotubular syndrome primary Fanconi renotubular syndrome Primary Fanconi renotubular syndrome Orphanet:3337 Primary Fanconi renotubular syndrome Orphanet:3337 updated primary Fanconi renotubular syndrome Orphanet:3337 Orphanet MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva Orphanet:337 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 updated myositis ossificans progressiva Orphanet:337 Orphanet MONDO:0007620 fish eye disease oio:hasExactSynonym oio:hasRelatedSynonym fish-eye disease fish-eye disease Fish-eye disease Orphanet:79292 Fish-eye disease OMIM:136120 updated fish-eye disease Orphanet:79292 Orphanet -MONDO:0007636 frontorhiny oio:hasExactSynonym oio:hasRelatedSynonym frontonasal dysplasia frontonasal dysplasia Frontonasal dysplasia Orphanet:250 Frontonasal dysplasia OMIM:136760 updated frontonasal dysplasia Orphanet:250 Orphanet -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens Orphanet:52427 Retinitis punctata albescens DOID:11105, OMIM:136880 updated retinitis punctata albescens Orphanet:52427 Orphanet MONDO:0007640 Sorsby fundus dystrophy oio:hasExactSynonym oio:hasRelatedSynonym Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 updated Sorsby pseudoinflammatory fundus dystrophy Orphanet:59181 Orphanet MONDO:0007646 Gamstorp-Wohlfart syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal neuropathy with neuromyotonia autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 updated autosomal recessive axonal neuropathy with neuromyotonia Orphanet:324442 Orphanet -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome oio:hasExactSynonym oio:hasRelatedSynonym GSD Orphanet:79201 Glycogen storage disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:137440, MONDO:Lexical updated GSD Orphanet:79201 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007669 renal cysts and diabetes syndrome oio:hasExactSynonym oio:hasRelatedSynonym maturity-onset diabetes of the young type 5 maturity-onset diabetes of the young type 5 Maturity-onset diabetes of the young type 5 Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease DOID:0111101 updated maturity-onset diabetes of the young type 5 Orphanet:93111 Orphanet MONDO:0007672 glomuvenous malformation oio:hasExactSynonym oio:hasRelatedSynonym glomangiomatosis glomangiomatosis Glomangiomatosis Orphanet:83454 Glomuvenous malformation Orphanet:83454 updated glomangiomatosis Orphanet:83454 Orphanet MONDO:0007688 Myhre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MYHRE syndrome MYHRE syndrome Myhre syndrome Orphanet:2588 Myhre syndrome OMIM:139210 updated MYHRE syndrome Orphanet:2588 Orphanet MONDO:0007693 hypertrichosis cubiti-short stature syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypertrichosis cubiti hypertrichosis cubiti Hypertrichosis cubiti Orphanet:2220 Hypertrichosis cubiti OMIM:139600, GARD:0000143 updated hypertrichosis cubiti Orphanet:2220 Orphanet MONDO:0007710 facial hemiatrophy oio:hasExactSynonym oio:hasRelatedSynonym PHA Orphanet:1214 Progressive hemifacial atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:1214 updated PHA Orphanet:1214 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm Orphanet:221083 Hemifacial spasm Orphanet:221083 updated hemifacial spasm Orphanet:221083 Orphanet -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym atriodigital dysplasia atriodigital dysplasia Atriodigital dysplasia Orphanet:228184 Heart-hand syndrome OMIM:142900, DOID:0060468 updated atriodigital dysplasia Orphanet:228184 Orphanet -MONDO:0007732 Holt-Oram syndrome oio:hasExactSynonym oio:hasBroadSynonym heart-hand syndrome heart-hand syndrome Heart-hand syndrome Orphanet:228184 Heart-hand syndrome DOID:0060468, OMIM:142900 updated heart-hand syndrome Orphanet:228184 Orphanet -MONDO:0007744 cholesterol-ester transfer protein deficiency oio:hasExactSynonym oio:hasBroadSynonym hyperalphalipoproteinemia hyperalphalipoproteinemia Hyperalphalipoproteinemia Orphanet:181428 Hyperalphalipoproteinemia OMIM:143470, OMIM:genemap2 updated hyperalphalipoproteinemia Orphanet:181428 Orphanet MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym diffuse erythrodermic palmoplantar keratoderma, Vörner type diffuse erythrodermic palmoplantar keratoderma, Vörner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 updated diffuse erythrodermic palmoplantar keratoderma, Vörner type Orphanet:2199 Orphanet MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 oio:hasExactSynonym oio:hasRelatedSynonym epidermolytic palmoplantar keratoderma of Vörner epidermolytic palmoplantar keratoderma of Vörner Epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 Epidermolytic palmoplantar keratoderma GARD:0002826 updated epidermolytic palmoplantar keratoderma of Vörner Orphanet:2199 Orphanet -MONDO:0007772 pseudohypoaldosteronism type 2A oio:hasExactSynonym oio:hasRelatedSynonym Gordon hyperkalemia-hypertension syndrome Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:145260 updated Gordon hyperkalemia-hypertension syndrome Orphanet:757 Orphanet MONDO:0007787 Ambras type hypertrichosis universalis congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized hypertrichosis, Ambras type congenital generalized hypertrichosis, Ambras type Congenital generalized hypertrichosis, Ambras type Orphanet:1023 Congenital generalized hypertrichosis, Ambras type Orphanet:1023 updated congenital generalized hypertrichosis, Ambras type Orphanet:1023 Orphanet MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 updated Müllerian duct anomalies-limb anomalies syndrome Orphanet:2491 Orphanet -MONDO:0007813 superficial epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis exfoliativa ichthyosis exfoliativa Ichthyosis exfoliativa Orphanet:289586 Exfoliative ichthyosis OMIM:146800 updated ichthyosis exfoliativa Orphanet:289586 Orphanet MONDO:0007827 inclusion body myositis oio:hasExactSynonym oio:hasRelatedSynonym IBM Ibm IBM Orphanet:611 Inclusion body myositis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147421 updated IBM Orphanet:611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007836 IVIC syndrome oio:hasExactSynonym oio:hasRelatedSynonym radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 IVIC syndrome OMIM:147750 updated radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Orphanet:2307 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 11q deletion syndrome chromosome 11q deletion syndrome Chromosome 11q deletion syndrome Orphanet:2308 Jacobsen syndrome OMIM:147791 updated chromosome 11q deletion syndrome Orphanet:2308 Orphanet -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym oio:hasRelatedSynonym JBS Orphanet:2315 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:147791, MONDO:Lexical updated JBS Orphanet:2315 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 updated SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007841 coxopodopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:147891, Orphanet:1509 updated SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym KERATOENDOTHELIITIS fugax hereditaria KERATOENDOTHELIITIS fugax hereditaria Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 updated KERATOENDOTHELIITIS fugax hereditaria Orphanet:647815 Orphanet MONDO:0007849 keratitis fugax hereditaria oio:hasExactSynonym oio:hasRelatedSynonym Keratoendotheliitis fugax hereditaria Orphanet:647815 Keratitis fugax hereditaria OMIM:148200 updated Keratoendotheliitis fugax hereditaria Orphanet:647815 Orphanet MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema Orphanet:50943 Keratolytic winter erythema OMIM:148370 updated keratolytic WINTER erythema Orphanet:50943 Orphanet MONDO:0007866 Bart-Pumphrey syndrome oio:hasExactSynonym oio:hasRelatedSynonym knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 updated knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Orphanet:2698 Orphanet -MONDO:0007871 familial congenital nasolacrimal duct obstruction oio:hasExactSynonym oio:hasRelatedSynonym LCDD Orphanet:93558 Light chain deposition disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:149700 updated LCDD Orphanet:93558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym oio:hasRelatedSynonym Moynahan syndrome Orphanet:2574 Moynahan syndrome DOID:14291 updated Moynahan syndrome Orphanet:2574 Orphanet MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym oio:hasRelatedSynonym acute monoblastic/monocytic leukemia acute monoblastic/monocytic leukemia Acute monoblastic/monocytic leukemia Orphanet:514 Acute monoblastic/monocytic leukemia ONCOTREE:AMOL updated acute monoblastic/monocytic leukemia Orphanet:514 Orphanet MONDO:0007908 multiple symmetric lipomatosis oio:hasExactSynonym oio:hasBroadSynonym Madelung disease Orphanet:2398 Multiple symmetric lipomatosis Orphanet:2398 updated Madelung disease Orphanet:2398 Orphanet MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability oio:hasExactSynonym oio:hasRelatedSynonym microcephaly-lymphedema-chorioretinopathy syndrome microcephaly-lymphedema-chorioretinopathy syndrome Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 updated microcephaly-lymphedema-chorioretinopathy syndrome Orphanet:2526 Orphanet MONDO:0007921 yellow nail syndrome oio:hasExactSynonym oio:hasRelatedSynonym YNS Yns YNS Orphanet:662 Yellow nail syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:153300 updated YNS Orphanet:662 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia Orphanet:156207 Macroglossia OMIM:153630 updated macroglossia Orphanet:156207 Orphanet MONDO:0007935 cystoid macular edema oio:hasExactSynonym oio:hasRelatedSynonym cystoid macular dystrophy cystoid macular dystrophy Cystoid macular dystrophy Orphanet:75381 Cystoid macular dystrophy OMIM:153880 updated cystoid macular dystrophy Orphanet:75381 Orphanet MONDO:0007937 renal hypomagnesemia 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant primary hypomagnesemia with hypocalciuria autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria DOID:0060885 updated autosomal dominant primary hypomagnesemia with hypocalciuria Orphanet:34528 Orphanet -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa Orphanet:79457 Maculopapular cutaneous mastocytosis OMIM:154800 updated urticaria pigmentosa Orphanet:79457 Orphanet MONDO:0007953 Binder syndrome oio:hasExactSynonym oio:hasRelatedSynonym maxillonasal dysplasia maxillonasal dysplasia Maxillonasal dysplasia Orphanet:1248 Maxillonasal dysplasia Orphanet:1248 updated maxillonasal dysplasia Orphanet:1248 Orphanet -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasBroadSynonym medullary thyroid carcinoma medullary thyroid carcinoma Medullary thyroid carcinoma Orphanet:1332 Medullary thyroid carcinoma OMIM:155240, OMIM:genemap2 updated medullary thyroid carcinoma Orphanet:1332 Orphanet -MONDO:0007958 familial medullary thyroid carcinoma oio:hasExactSynonym oio:hasRelatedSynonym MTC Orphanet:1332 Medullary thyroid carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:155240, MONDO:Lexical updated MTC Orphanet:1332 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity Orphanet:251858 Medulloblastoma with extensive nodularity OMIM:155255 updated medulloblastoma with extensive nodularity Orphanet:251858 Orphanet -MONDO:0007959 medulloblastoma oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor NCIT:C5398, DOID:0050902 updated CNS PNET Orphanet:251870 Orphanet MONDO:0007977 mesomelic dysplasia, Kantaputra type oio:hasExactSynonym oio:hasRelatedSynonym MDK Mdk MDK Orphanet:1836 Mesomelic dysplasia, Kantaputra type http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156232 updated MDK Orphanet:1836 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis Orphanet:2499 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 updated METACHONDROMATOSIS Orphanet:2499 Orphanet MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis Orphanet:1077 Dental ankylosis OMIM:157950 updated dental ankylosis Orphanet:1077 Orphanet MONDO:0008019 mullerian aplasia and hyperandrogenism oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia and hyperandrogenism Orphanet:247768 Müllerian aplasia and hyperandrogenism Orphanet:247768 updated Müllerian aplasia and hyperandrogenism Orphanet:247768 Orphanet -MONDO:0008047 episodic ataxia type 1 oio:hasExactSynonym oio:hasRelatedSynonym Isaacs-Mertens syndrome Orphanet:84142 Isaacs syndrome OMIM:160120, https://www.ncbi.nlm.nih.gov/books/NBK25442/ updated Isaacs-Mertens syndrome Orphanet:84142 Orphanet -MONDO:0008050 MYH7-related skeletal myopathy oio:hasExactSynonym oio:hasRelatedSynonym myosin storage myopathy myosin storage myopathy Myosin storage myopathy Orphanet:53698 Myosin storage myopathy PMID:24664454, PMID:22918376 updated myosin storage myopathy Orphanet:53698 Orphanet MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym oio:hasRelatedSynonym Steinert myotonic dystrophy Orphanet:273 Steinert myotonic dystrophy Orphanet:273 updated Steinert myotonic dystrophy Orphanet:273 Orphanet MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI syndrome NAEGELI syndrome Naegeli syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated NAEGELI syndrome Orphanet:69087 Orphanet MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated NAEGELI-Franceschetti-Jadassohn syndrome Orphanet:69087 Orphanet @@ -110998,16 +107823,9 @@ MONDO:0008060 nonsyndromic congenital nail disorder 1 oio:hasExactSynonym oio:ha MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 updated UMOD-related autosomal dominant tubulointerstitial kidney disease Orphanet:88950 Orphanet MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 oio:hasExactSynonym oio:hasRelatedSynonym MCKD2 Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:603860 updated MCKD2 Orphanet:88950 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008090 cyclic hematopoiesis oio:hasExactSynonym oio:hasRelatedSynonym cyclic neutropenia cyclic neutropenia Cyclic neutropenia Orphanet:2686 Cyclic neutropenia OMIM:162800 updated cyclic neutropenia Orphanet:2686 Orphanet -MONDO:0008094 familial multiple nevi flammei oio:hasExactSynonym oio:hasRelatedSynonym CMC Orphanet:1334 Chronic mucocutaneous candidiasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:163000, MONDO:Lexical updated CMC Orphanet:1334 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008097 linear nevus sebaceous syndrome oio:hasExactSynonym oio:hasRelatedSynonym epidermal nevus syndrome epidermal nevus syndrome Epidermal nevus syndrome Orphanet:35125 Epidermal nevus syndrome OMIM:163200 updated epidermal nevus syndrome Orphanet:35125 Orphanet MONDO:0008098 mesomelic dwarfism, Nievergelt type oio:hasExactSynonym oio:hasRelatedSynonym mesomelic dysplasia, Nievergelt type mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Nievergelt type Orphanet:2633 Mesomelic dysplasia, Nievergelt type OMIM:163400 updated mesomelic dysplasia, Nievergelt type Orphanet:2633 Orphanet -MONDO:0008101 familial supernumerary nipples oio:hasExactSynonym oio:hasRelatedSynonym polymastia polymastia Polymastia Orphanet:180182 Supernumerary breasts OMIM:163700 updated polymastia Orphanet:180182 Orphanet -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Feingold syndrome Orphanet:1305 Feingold syndrome OMIM:164280 updated Feingold syndrome Orphanet:1305 Orphanet -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Oded syndrome Oded syndrome ODED syndrome Orphanet:1305 Feingold syndrome OMIM:164280 updated Oded syndrome Orphanet:1305 Orphanet -MONDO:0008115 Feingold syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 Feingold syndrome OMIM:164280 updated digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Orphanet:1305 Orphanet MONDO:0008150 osteoglophonic dwarfism oio:hasExactSynonym oio:hasRelatedSynonym Osteoglosphonic dysplasia Orphanet:2645 Osteoglosphonic dysplasia Orphanet:2645 updated Osteoglosphonic dysplasia Orphanet:2645 Orphanet MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia Orphanet:53697 Gnathodiaphyseal dysplasia OMIM:166260 updated GNATHODIAPHYSEAL dysplasia Orphanet:53697 Orphanet -MONDO:0008161 otodental syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculootodental syndrome oculootodental syndrome Oculootodental syndrome Orphanet:99806 Oculootodental syndrome OMIM:166750 updated oculootodental syndrome Orphanet:99806 Orphanet MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis hereditary ovalocytosis Hereditary ovalocytosis Orphanet:98868 Southeast Asian ovalocytosis Orphanet:98868 updated hereditary ovalocytosis Orphanet:98868 Orphanet MONDO:0008182 nasopalpebral lipoma-coloboma syndrome oio:hasExactSynonym oio:hasRelatedSynonym NASOPALPEBRAL lipoma-coloboma syndrome NASOPALPEBRAL lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma syndrome Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome OMIM:167730 updated NASOPALPEBRAL lipoma-coloboma syndrome Orphanet:2399 Orphanet MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym paramyotonia congenita of VON Eulenburg paramyotonia congenita of VON Eulenburg Paramyotonia congenita of Von Eulenburg Orphanet:684 Paramyotonia congenita of Von Eulenburg OMIM:168300 updated paramyotonia congenita of VON Eulenburg Orphanet:684 Orphanet @@ -111015,24 +107833,14 @@ MONDO:0008198 parietal foramina with cleidocranial dysplasia oio:hasExactSynonym MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHAR syndrome CHAR syndrome Char syndrome Orphanet:46627 Char syndrome OMIM:169100 updated CHAR syndrome Orphanet:46627 Orphanet MONDO:0008209 Char syndrome oio:hasExactSynonym oio:hasRelatedSynonym patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Orphanet:46627 Char syndrome OMIM:169100 updated patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Orphanet:46627 Orphanet MONDO:0008211 pseudoleprechaunism syndrome, Patterson type oio:hasExactSynonym oio:hasRelatedSynonym Patterson pseudoleprechaunism syndrome Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type OMIM:169170 updated Patterson pseudoleprechaunism syndrome Orphanet:2976 Orphanet -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 updated ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008222 Andersen-Tawil syndrome oio:hasExactSynonym oio:hasBroadSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050434 updated ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008251 familial pityriasis rubra pilaris oio:hasExactSynonym oio:hasBroadSynonym pityriasis rubra pilaris pityriasis rubra pilaris Pityriasis rubra pilaris Orphanet:2897 Pityriasis rubra pilaris MONDO:Lexical, OMIM:173200 updated pityriasis rubra pilaris Orphanet:2897 Orphanet MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome Orphanet:2908 Kindler epidermolysis bullosa OMIM:173650 updated KINDLER syndrome Orphanet:2908 Orphanet MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous poikiloderma congenital bullous poikiloderma Congenital bullous poikiloderma Orphanet:2908 Kindler epidermolysis bullosa GARD:0004391 updated congenital bullous poikiloderma Orphanet:2908 Orphanet MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant tubulointerstitial kidney disease autosomal dominant tubulointerstitial kidney disease Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease Orphanet:34149 updated autosomal dominant tubulointerstitial kidney disease Orphanet:34149 Orphanet MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease medullary cystic kidney disease Medullary cystic kidney disease Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease GARD:0010801 updated medullary cystic kidney disease Orphanet:34149 Orphanet MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 updated MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone Orphanet:249 Fibrous dysplasia of bone NCIT:C34609 updated fibrous dysplasia of bone Orphanet:249 Orphanet MONDO:0008275 familial expansile osteolysis oio:hasExactSynonym oio:hasRelatedSynonym Mccabe disease Mccabe disease McCabe disease Orphanet:85195 Familial expansile osteolysis OMIM:174810 updated Mccabe disease Orphanet:85195 Orphanet -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile intestinal polyposis juvenile intestinal polyposis Juvenile intestinal polyposis Orphanet:2929 Juvenile polyposis syndrome OMIM:174900 updated juvenile intestinal polyposis Orphanet:2929 Orphanet -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis syndrome juvenile polyposis syndrome Juvenile polyposis syndrome Orphanet:2929 Juvenile polyposis syndrome MONDO:Lexical, OMIM:174900 updated juvenile polyposis syndrome Orphanet:2929 Orphanet -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli oio:hasExactSynonym oio:hasRelatedSynonym JPS jPS JPS Orphanet:2929 Juvenile polyposis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:174900 updated JPS Orphanet:2929 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008292 punctate palmoplantar keratoderma type 2 oio:hasExactSynonym oio:hasRelatedSynonym porokeratosis punctata palmaris Et plantaris porokeratosis punctata palmaris Et plantaris Porokeratosis punctata palmaris et plantaris Orphanet:79502 Punctate palmoplantar keratoderma type 2 OMIM:175860 updated porokeratosis punctata palmaris Et plantaris Orphanet:79502 Orphanet -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:103919 Autoimmune pancreatitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical updated AIP Orphanet:103919 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym AIP Orphanet:662721 Placenta accreta spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176000, MONDO:Lexical updated AIP Orphanet:662721 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda Orphanet:101330 Porphyria cutanea tarda OMIM:176100 updated porphyria cutanea tarda Orphanet:101330 Orphanet -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym PCT Orphanet:101330 Porphyria cutanea tarda http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:176100 updated PCT Orphanet:101330 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata Orphanet:79473 Variegate porphyria OMIM:176200 updated porphyria variegata Orphanet:79473 Orphanet MONDO:0008305 Currarino triad oio:hasExactSynonym oio:hasRelatedSynonym CURRARINO syndrome CURRARINO syndrome Currarino syndrome Orphanet:1552 Currarino syndrome OMIM:176450 updated CURRARINO syndrome Orphanet:1552 Orphanet MONDO:0008310 Hutchinson-Gilford progeria syndrome oio:hasExactSynonym oio:hasBroadSynonym progeria progeria Progeria Orphanet:740 Hutchinson-Gilford progeria syndrome OMIM:176670, Orphanet:740 updated progeria Orphanet:740 Orphanet @@ -111042,7 +107850,6 @@ MONDO:0008332 platelet-type von Willebrand disease oio:hasExactSynonym oio:hasRe MONDO:0008353 pruritic urticarial papules and plaques of pregnancy oio:hasExactSynonym oio:hasRelatedSynonym PUPPP Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:178995 updated PUPPP Orphanet:64745 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008365 recombinant 8 syndrome oio:hasExactSynonym oio:hasRelatedSynonym RECOMBINANT chromosome 8 syndrome RECOMBINANT chromosome 8 syndrome Recombinant chromosome 8 syndrome Orphanet:96167 Recombinant 8 syndrome OMIM:179613 updated RECOMBINANT chromosome 8 syndrome Orphanet:96167 Orphanet MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea Orphanet:91481 Ring dermoid of cornea OMIM:180550 updated RING dermoid of cornea Orphanet:91481 Orphanet -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations oio:hasExactSynonym oio:hasRelatedSynonym broad thumb-hallux syndrome broad thumb-hallux syndrome Broad thumb-hallux syndrome Orphanet:783 Rubinstein-Taybi syndrome OMIM:180849 updated broad thumb-hallux syndrome Orphanet:783 Orphanet MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym oio:hasRelatedSynonym pleomorphic salivary gland adenoma pleomorphic salivary gland adenoma Pleomorphic salivary gland adenoma Orphanet:454821 Pleomorphic salivary gland adenoma Orphanet:454821 updated pleomorphic salivary gland adenoma Orphanet:454821 Orphanet MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome Orphanet:2036 Scalp-ear-nipple syndrome OMIM:181270 updated scalp-EAR-nipple syndrome Orphanet:2036 Orphanet MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym HURIEZ syndrome HURIEZ syndrome Huriez syndrome Orphanet:384 Huriez syndrome OMIM:181600 updated HURIEZ syndrome Orphanet:384 Orphanet @@ -111054,11 +107861,9 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant o MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym SMAFK Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:182980, MONDO:Lexical updated SMAFK Orphanet:209335 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sgfld syndrome Sgfld syndrome SGFLD syndrome Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome OMIM:183300 updated Sgfld syndrome Orphanet:2063 Orphanet MONDO:0008471 spondyloepiphyseal dysplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital spondyloepiphyseal dysplasia congenital spondyloepiphyseal dysplasia Congenital spondyloepiphyseal dysplasia Orphanet:94068 Spondyloepiphyseal dysplasia congenita Orphanet:94068, ORCID:0000-0001-8612-1062 updated congenital spondyloepiphyseal dysplasia Orphanet:94068 Orphanet -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondylometaphyseal dysplasia spondylometaphyseal dysplasia Spondylometaphyseal dysplasia Orphanet:254 Spondylometaphyseal dysplasia OMIM:184250 updated spondylometaphyseal dysplasia Orphanet:254 Orphanet MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type oio:hasExactSynonym oio:hasRelatedSynonym spondyloepimetaphyseal dysplasia congenita, Strudwick type spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 updated spondyloepimetaphyseal dysplasia congenita, Strudwick type Orphanet:93346 Orphanet MONDO:0008485 sebocystomatosis oio:hasExactSynonym oio:hasRelatedSynonym STEATOCYSTOMA multiplex STEATOCYSTOMA multiplex Steatocystoma multiplex Orphanet:841 Sebocystomatosis OMIM:184500 updated STEATOCYSTOMA multiplex Orphanet:841 Orphanet MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym STEINFELD syndrome STEINFELD syndrome Steinfeld syndrome Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome OMIM:184705 updated STEINFELD syndrome Orphanet:3186 Orphanet -MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:1509 Coxopodopatellar syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 updated SPS Orphanet:1509 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SMS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3198 updated SMS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym SPS Orphanet:3198 Stiff person spectrum disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, Orphanet:3198, OMIM:184850 updated SPS Orphanet:3198 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome Orphanet:2833 Stiff skin syndrome OMIM:184900 updated STIFF skin syndrome Orphanet:2833 Orphanet @@ -111066,10 +107871,8 @@ MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:has MONDO:0008495 platelet storage pool deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha delta granule deficiency alpha delta granule deficiency Alpha delta granule deficiency Orphanet:734 Alpha delta granule deficiency Orphanet:734 updated alpha delta granule deficiency Orphanet:734 Orphanet MONDO:0008497 Stormorken syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 updated Stormorken-Sjaastad-Langslet syndrome Orphanet:3204 Orphanet MONDO:0008499 short stature-wormian bones-dextrocardia syndrome oio:hasExactSynonym oio:hasRelatedSynonym STRATTON-PARKER syndrome STRATTON-PARKER syndrome Stratton-Parker syndrome Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome OMIM:185120 updated STRATTON-PARKER syndrome Orphanet:2863 Orphanet -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type Orphanet:1527 Craniosynostosis, Philadelphia type OMIM:185900 updated craniosynostosis, Philadelphia type Orphanet:1527 Orphanet MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome oio:hasExactSynonym oio:hasRelatedSynonym LIEBENBERG syndrome LIEBENBERG syndrome Liebenberg syndrome Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome OMIM:186550 updated LIEBENBERG syndrome Orphanet:1275 Orphanet MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot Orphanet:3303 Tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT Orphanet:3303 Orphanet -MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym oio:hasRelatedSynonym thanatophoric dysplasia thanatophoric dysplasia Thanatophoric dysplasia Orphanet:2655 Thanatophoric dysplasia OMIM:187600 updated thanatophoric dysplasia Orphanet:2655 Orphanet MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune thrombocytopenia Orphanet:3002 Immune thrombocytopenia Orphanet:3002 updated immune thrombocytopenia Orphanet:3002 Orphanet MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune thrombocytopenic purpura Orphanet:3002 Immune thrombocytopenia OMIM:188030 updated immune thrombocytopenic purpura Orphanet:3002 Orphanet MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly oio:hasExactSynonym oio:hasRelatedSynonym tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 updated tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Orphanet:988 Orphanet @@ -111081,15 +107884,10 @@ MONDO:0008619 ulna metaphyseal dysplasia syndrome oio:hasExactSynonym oio:hasRel MONDO:0008620 upper limb mesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ulna hypoplasia ulna hypoplasia Ulna hypoplasia Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns Orphanet:2497 updated ulna hypoplasia Orphanet:2497 Orphanet MONDO:0008633 Muckle-Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUCKLE-Wells syndrome MUCKLE-Wells syndrome Muckle-Wells syndrome Orphanet:575 Muckle-Wells syndrome OMIM:191900 updated MUCKLE-Wells syndrome Orphanet:575 Orphanet MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym CHOREOACANTHOCYTOSIS CHOREOACANTHOCYTOSIS Choreoacanthocytosis Orphanet:2388 Choreoacanthocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:200150 updated CHOREOACANTHOCYTOSIS Orphanet:2388 Orphanet -MONDO:0008695 chorea-acanthocytosis oio:hasExactSynonym oio:hasRelatedSynonym neuroacanthocytosis neuroacanthocytosis Neuroacanthocytosis Orphanet:263440 Neuroacanthocytosis OMIM:200150 updated neuroacanthocytosis Orphanet:263440 Orphanet MONDO:0008701 achondrogenesis type IA oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1A achondrogenesis type 1A Achondrogenesis type 1A Orphanet:93299 Achondrogenesis type 1A Orphanet:93299 updated achondrogenesis type 1A Orphanet:93299 Orphanet MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 2 achondrogenesis type 2 Achondrogenesis type 2 Orphanet:93296 Achondrogenesis type 2 Orphanet:93296 updated achondrogenesis type 2 Orphanet:93296 Orphanet -MONDO:0008702 achondrogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis OMIM:200610 updated hypochondrogenesis Orphanet:93297 Orphanet -MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym oio:hasRelatedSynonym hypochondrogenesis hypochondrogenesis Hypochondrogenesis Orphanet:93297 Hypochondrogenesis NCIT:C3816 updated hypochondrogenesis Orphanet:93297 Orphanet -MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSynonym AE ae AE Orphanet:622014 Autoimmune encephalitis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0005723 updated AE Orphanet:622014 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008714 acrofacial dysostosis Rodriguez type oio:hasExactSynonym oio:hasRelatedSynonym acrofacial dysostosis, Rodríguez type acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Rodríguez type Orphanet:1788 Acrofacial dysostosis, Rodríguez type Orphanet:1788 updated acrofacial dysostosis, Rodríguez type Orphanet:1788 Orphanet MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated ACTH deficiency congenital isolated ACTH deficiency Congenital isolated ACTH deficiency Orphanet:199296 Congenital isolated ACTH deficiency Orphanet:199296 updated congenital isolated ACTH deficiency Orphanet:199296 Orphanet -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency oio:hasExactSynonym oio:hasRelatedSynonym IAD Orphanet:480512 Idiopathic ductopenia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:201400 updated IAD Orphanet:480512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency OMIM:201450 updated Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Orphanet:42 Orphanet MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Acads deficiency Acads deficiency ACADS deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 updated Acads deficiency Orphanet:26792 Orphanet MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scad deficiency Scad deficiency SCAD deficiency Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency OMIM:201470 updated Scad deficiency Orphanet:26792 Orphanet @@ -111105,9 +107903,7 @@ MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRel MONDO:0008809 polyneuropathy-hand defect syndrome oio:hasExactSynonym oio:hasRelatedSynonym digital extensor muscle aplasia-polyneuropathy digital extensor muscle aplasia-polyneuropathy Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy Orphanet:2926 updated digital extensor muscle aplasia-polyneuropathy Orphanet:2926 Orphanet MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym XK aprosencephaly syndrome Orphanet:3469 XK aprosencephaly syndrome Orphanet:3469 updated XK aprosencephaly syndrome Orphanet:3469 Orphanet MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym Xk syndrome Xk syndrome XK syndrome Orphanet:3469 XK aprosencephaly syndrome OMIM:207770 updated Xk syndrome Orphanet:3469 Orphanet -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly Orphanet:566852 Atelencephaly Orphanet:3469 updated atelencephaly Orphanet:566852 Orphanet MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical updated ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0008818 arterial tortuosity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:3342, OMIM:208050, MONDO:Lexical updated ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome oio:hasExactSynonym oio:hasRelatedSynonym ILLUM syndrome ILLUM syndrome Illum syndrome Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome OMIM:208155 updated ILLUM syndrome Orphanet:1150 Orphanet MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oio:hasExactSynonym oio:hasRelatedSynonym camptodactyly-arthropathy-coxa-vara-pericarditis syndrome camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome GARD:0000306 updated camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Orphanet:2848 Orphanet MONDO:0008832 right atrial isomerism oio:hasExactSynonym oio:hasRelatedSynonym RAI Orphanet:97548 Right sided atrial isomerism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:208530 updated RAI Orphanet:97548 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -111120,7 +107916,6 @@ MONDO:0008867 biliary atresia oio:hasExactSynonym oio:hasRelatedSynonym isolated MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym Bird-headed dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 updated Bird-headed dwarfism, Montreal type Orphanet:2617 Orphanet MONDO:0008870 bird headed-dwarfism, Montreal type oio:hasExactSynonym oio:hasRelatedSynonym microcephalic primordial dwarfism, Montreal type microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type Orphanet:2617 Microcephalic primordial dwarfism, Montreal type OMIM:210700 updated microcephalic primordial dwarfism, Montreal type Orphanet:2617 Orphanet MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease Orphanet:36258 Buerger disease OMIM:211480 updated BUERGER disease Orphanet:36258 Orphanet -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Orphanet:172 Progressive familial intrahepatic cholestasis GARD:0009802 updated progressive familial intrahepatic cholestasis Orphanet:172 Orphanet MONDO:0008896 campomelia, Cumming type oio:hasExactSynonym oio:hasRelatedSynonym Cumming syndrome Orphanet:1318 Campomelia, Cumming type OMIM:211890 updated Cumming syndrome Orphanet:1318 Orphanet MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 updated CARNITINE-acylcarnitine translocase deficiency Orphanet:159 Orphanet MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Cact deficiency Cact deficiency CACT deficiency Orphanet:159 Carnitine-acylcarnitine translocase deficiency OMIM:212138 updated Cact deficiency Orphanet:159 Orphanet @@ -111135,22 +107930,17 @@ MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability s MONDO:0008964 congenital secretory chloride diarrhea 1 oio:hasExactSynonym oio:hasRelatedSynonym congenital chloride diarrhea congenital chloride diarrhea Congenital chloride diarrhea Orphanet:53689 Congenital chloride diarrhea Orphanet:53689 updated congenital chloride diarrhea Orphanet:53689 Orphanet MONDO:0008966 Aagenaes syndrome oio:hasExactSynonym oio:hasRelatedSynonym cholestasis-lymphedema syndrome cholestasis-lymphedema syndrome Cholestasis-lymphedema syndrome Orphanet:1414 Cholestasis-lymphedema syndrome OMIM:214900 updated cholestasis-lymphedema syndrome Orphanet:1414 Orphanet MONDO:0008967 congenital bile acid synthesis defect 4 oio:hasExactSynonym oio:hasBroadSynonym AMACR deficiency Orphanet:79095 Congenital bile acid synthesis defect type 4 Orphanet:79095 updated AMACR deficiency Orphanet:79095 Orphanet -MONDO:0008988 citrullinemia type I oio:hasExactSynonym oio:hasBroadSynonym citrullinemia citrullinemia Citrullinemia Orphanet:187 Citrullinemia OMIM:215700, OMIM:genemap2 updated citrullinemia Orphanet:187 Orphanet MONDO:0009019 congenital hereditary endothelial dystrophy of cornea oio:hasExactSynonym oio:hasRelatedSynonym congenital hereditary endothelial dystrophy type II congenital hereditary endothelial dystrophy type II Congenital hereditary endothelial dystrophy type II Orphanet:293603 Congenital hereditary endothelial dystrophy type II Orphanet:293603 updated congenital hereditary endothelial dystrophy type II Orphanet:293603 Orphanet MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess Orphanet:320 Apparent mineralocorticoid excess OMIM:218030 updated apparent mineralocorticoid EXCESS Orphanet:320 Orphanet -MONDO:0009031 craniodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym CDD Orphanet:505652 CDKL5-deficiency disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:218300, MONDO:Lexical, OMIM:122860 updated CDD Orphanet:505652 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009033 temtamy syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY syndrome TEMTAMY syndrome Temtamy syndrome Orphanet:1777 Temtamy syndrome OMIM:218340 updated TEMTAMY syndrome Orphanet:1777 Orphanet MONDO:0009034 craniofacial dyssynostosis oio:hasExactSynonym oio:hasRelatedSynonym bilateral lambdoid and sagittal synostosis bilateral lambdoid and sagittal synostosis Bilateral lambdoid and sagittal synostosis Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis OMIM:218350 updated bilateral lambdoid and sagittal synostosis Orphanet:1516 Orphanet MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome Orphanet:1225 Baller-Gerold syndrome OMIM:218600 updated BALLER-Gerold syndrome Orphanet:1225 Orphanet MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease Orphanet:96253 Cushing disease GARD:0012867 updated Cushing disease Orphanet:96253 Orphanet MONDO:0009053 ALDH18A1-related de Barsy syndrome oio:hasExactSynonym oio:hasBroadSynonym P5CS deficiency Orphanet:35664 ALDH18A1-related De Barsy syndrome Orphanet:35664 updated P5CS deficiency Orphanet:35664 Orphanet -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2A Orphanet:357058 Autosomal recessive cutis laxa type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200, MONDO:Lexical updated ARCL2A Orphanet:357058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type oio:hasExactSynonym oio:hasRelatedSynonym ARCL2 Arcl2 ARCL2 Orphanet:90350 Autosomal recessive cutis laxa type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:219200 updated ARCL2 Orphanet:90350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009068 cytochrome-c oxidase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym isolated cytochrome C oxidase deficiency isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency Orphanet:254905 Isolated cytochrome C oxidase deficiency Orphanet:254905 updated isolated cytochrome C oxidase deficiency Orphanet:254905 Orphanet MONDO:0009072 Dandy-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Dandy-Walker malformation isolated Dandy-Walker malformation Isolated Dandy-Walker malformation Orphanet:217 Isolated Dandy-Walker malformation Orphanet:217 updated isolated Dandy-Walker malformation Orphanet:217 Orphanet MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss oio:hasExactSynonym oio:hasRelatedSynonym split hand-split foot-deafness syndrome split hand-split foot-deafness syndrome Split hand-split foot-deafness syndrome Orphanet:71271 Split hand-split foot-deafness syndrome Orphanet:71271 updated split hand-split foot-deafness syndrome Orphanet:71271 Orphanet MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities oio:hasExactSynonym oio:hasRelatedSynonym non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 updated non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Orphanet:231720 Orphanet -MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym DD Orphanet:1653 Dentin dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:222600 updated DD Orphanet:1653 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009107 diastrophic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym diastrophic dwarfism diastrophic dwarfism Diastrophic dwarfism Orphanet:628 Diastrophic dysplasia Orphanet:628 updated diastrophic dwarfism Orphanet:628 Orphanet MONDO:0009109 lysinuric protein intolerance oio:hasExactSynonym oio:hasRelatedSynonym lysinuric PROTEIN intolerance lysinuric PROTEIN intolerance Lysinuric protein intolerance Orphanet:470 Lysinuric protein intolerance OMIM:222700 updated lysinuric PROTEIN intolerance Orphanet:470 Orphanet MONDO:0009110 dicarboxylic aminoaciduria oio:hasExactSynonym oio:hasRelatedSynonym glutamate-aspartate Transport defect glutamate-aspartate Transport defect Glutamate-aspartate transport defect Orphanet:2195 Dicarboxylic aminoaciduria OMIM:222730 updated glutamate-aspartate Transport defect Orphanet:2195 Orphanet @@ -111174,10 +107964,7 @@ MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia oio:hasExactSynon MONDO:0009242 brittle cornea syndrome oio:hasExactSynonym oio:hasRelatedSynonym Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6b Ehlers-Danlos syndrome type 6B Orphanet:90354 Brittle cornea syndrome updated Ehlers-Danlos syndrome type 6b Orphanet:90354 Orphanet MONDO:0009255 galactokinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Galk deficiency Galk deficiency GALK deficiency Orphanet:79237 Galactokinase deficiency OMIM:230200 updated Galk deficiency Orphanet:79237 Orphanet MONDO:0009257 galactose epimerase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Gale deficiency Gale deficiency GALE deficiency Orphanet:79238 Galactose epimerase deficiency OMIM:230350 updated Gale deficiency Orphanet:79238 Orphanet -MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym galactosemia galactosemia Galactosemia Orphanet:352 Galactosemia OMIM:230400 updated galactosemia Orphanet:352 Orphanet MONDO:0009258 classic galactosemia oio:hasExactSynonym oio:hasRelatedSynonym Galt deficiency Galt deficiency GALT deficiency Orphanet:79239 Classic galactosemia OMIM:230400 updated Galt deficiency Orphanet:79239 Orphanet -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Beta-galactosidase-1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 updated Beta-galactosidase-1 deficiency Orphanet:354 Orphanet -MONDO:0009260 GM1 gangliosidosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Glb1 deficiency Glb1 deficiency GLB1 deficiency Orphanet:354 GM1 gangliosidosis OMIM:230500 updated Glb1 deficiency Orphanet:354 Orphanet MONDO:0009265 Gaucher disease type I oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 1 Orphanet:77259 Gaucher disease type 1 Orphanet:77259 updated Gaucher disease type 1 Orphanet:77259 Orphanet MONDO:0009266 Gaucher disease type II oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 2 Orphanet:77260 Gaucher disease type 2 Orphanet:77260 updated Gaucher disease type 2 Orphanet:77260 Orphanet MONDO:0009267 Gaucher disease type III oio:hasExactSynonym oio:hasRelatedSynonym Gaucher disease type 3 Orphanet:77261 Gaucher disease type 3 Orphanet:77261 updated Gaucher disease type 3 Orphanet:77261 Orphanet @@ -111185,10 +107972,7 @@ MONDO:0009270 genito-palato-cardiac syndrome oio:hasExactSynonym oio:hasRelatedS MONDO:0009274 ghosal hematodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GHOSAL hematodiaphyseal dysplasia GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia Orphanet:1802 Ghosal hematodiaphyseal dysplasia OMIM:231095 updated GHOSAL hematodiaphyseal dysplasia Orphanet:1802 Orphanet MONDO:0009277 glaucoma 3A oio:hasExactSynonym oio:hasBroadSynonym buphthalmos buphthalmos Buphthalmos Orphanet:98976 Congenital glaucoma DOID:11211, OMIM:231300 updated buphthalmos Orphanet:98976 Orphanet MONDO:0009279 triple-A syndrome oio:hasExactSynonym oio:hasRelatedSynonym triple A syndrome triple A syndrome Triple A syndrome Orphanet:869 Triple A syndrome GARD:0000457 updated triple A syndrome Orphanet:869 Orphanet -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym EMA Orphanet:139431 Epilepsy with eyelid myoclonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006523 updated EMA Orphanet:139431 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009283 glutaric acidemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym glutaryl-Coa oxidase deficiency glutaryl-Coa oxidase deficiency Glutaryl-CoA oxidase deficiency Orphanet:35706 Glutaric acidemia type 3 OMIM:231690 updated glutaryl-Coa oxidase deficiency Orphanet:35706 Orphanet -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym Von Gierke disease Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 updated Von Gierke disease Orphanet:364 Orphanet -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym hepatorenal glycogenosis hepatorenal glycogenosis Hepatorenal glycogenosis Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency OMIM:232200 updated hepatorenal glycogenosis Orphanet:364 Orphanet MONDO:0009290 glycogen storage disease II oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to acid maltase deficiency glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency Orphanet:365 Glycogen storage disease due to acid maltase deficiency Orphanet:365 updated glycogen storage disease due to acid maltase deficiency Orphanet:365 Orphanet MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym Gde deficiency Gde deficiency GDE deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency OMIM:232400 updated Gde deficiency Orphanet:366 Orphanet MONDO:0009291 glycogen storage disease III oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to glycogen debranching enzyme deficiency glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 updated glycogen storage disease due to glycogen debranching enzyme deficiency Orphanet:366 Orphanet @@ -111213,52 +107997,35 @@ MONDO:0009393 ornithine translocase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0009395 hyperostosis corticalis generalisata oio:hasExactSynonym oio:hasRelatedSynonym VAN Buchem disease VAN Buchem disease Van Buchem disease Orphanet:3416 Hyperostosis corticalis generalisata OMIM:239100 updated VAN Buchem disease Orphanet:3416 Orphanet MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type oio:hasExactSynonym oio:hasRelatedSynonym hypertrichotic osteochondrodysplasia hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia Orphanet:1517 Cantú syndrome GARD:0008585, OMIM:239850 updated hypertrichotic osteochondrodysplasia Orphanet:1517 Orphanet MONDO:0009411 autoimmune polyendocrine syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym autoimmune polyendocrinopathy type 1 autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Orphanet:3453 Autoimmune polyendocrinopathy type 1 Orphanet:3453 updated autoimmune polyendocrinopathy type 1 Orphanet:3453 Orphanet -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym CIP Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:243000, MONDO:Lexical updated CIP Orphanet:64752 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym familial intestinal polyatresia syndrome familial intestinal polyatresia syndrome Familial intestinal polyatresia syndrome Orphanet:2300 Multiple intestinal atresia OMIM:243150, Orphanet:2300 updated familial intestinal polyatresia syndrome Orphanet:2300 Orphanet -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym CID-MIA/early-onset IBD Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 updated CID-MIA/early-onset IBD Orphanet:436252 Orphanet -MONDO:0009465 multiple intestinal atresia oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency-enteropathy spectrum combined immunodeficiency-enteropathy spectrum Combined immunodeficiency-enteropathy spectrum Orphanet:436252 Combined immunodeficiency-enteropathy spectrum Orphanet:436252 updated combined immunodeficiency-enteropathy spectrum Orphanet:436252 Orphanet MONDO:0009473 isotretinoin-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym microtia-aortic Arch syndrome microtia-aortic Arch syndrome Microtia-aortic arch syndrome Orphanet:2306 Isotretinoin-like syndrome OMIM:243440 updated microtia-aortic Arch syndrome Orphanet:2306 Orphanet MONDO:0009475 isovaleric acidemia oio:hasExactSynonym oio:hasRelatedSynonym isovaleric acid Coa dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency Isovaleric acid CoA dehydrogenase deficiency Orphanet:33 Isovaleric acidemia OMIM:243500 updated isovaleric acid Coa dehydrogenase deficiency Orphanet:33 Orphanet MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome Orphanet:2315 Johanson-Blizzard syndrome OMIM:243800 updated Johanson-BLIZZARD syndrome Orphanet:2315 Orphanet -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS kos KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450 updated KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type oio:hasExactSynonym oio:hasRelatedSynonym KOS Orphanet:254519 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:244450, MONDO:Lexical updated KOS Orphanet:254519 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 updated PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym Papillon-LEFèvre syndrome Papillon-LEFèvre syndrome Papillon-Lefèvre syndrome Orphanet:678 Papillon-Lefèvre syndrome Orphanet:678 updated Papillon-LEFèvre syndrome Orphanet:678 Orphanet MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:678 Papillon-Lefèvre syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 updated PLS Orphanet:678 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PLS Pls PLS Orphanet:99969 Pleomorphic liposarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:245000 updated PLS Orphanet:99969 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009491 Haim-Munk syndrome oio:hasExactSynonym oio:hasRelatedSynonym HAIM-Munk syndrome HAIM-Munk syndrome Haim-Munk syndrome Orphanet:2342 Haim-Munk syndrome OMIM:245010 updated HAIM-Munk syndrome Orphanet:2342 Orphanet MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Scot deficiency Scot deficiency SCOT deficiency Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency OMIM:245050 updated Scot deficiency Orphanet:832 Orphanet -MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym ataxia-deafness-intellectual disability syndrome ataxia-deafness-intellectual disability syndrome Ataxia-deafness-intellectual disability syndrome Orphanet:1188 Ataxia-deafness-intellectual disability syndrome OMIM:245100 updated ataxia-deafness-intellectual disability syndrome Orphanet:1188 Orphanet MONDO:0009493 Richards-Rundle syndrome oio:hasExactSynonym oio:hasRelatedSynonym RICHARDS-RUNDLE syndrome RICHARDS-RUNDLE syndrome Richards-Rundle syndrome Orphanet:1399 Richards-Rundle syndrome OMIM:245100 updated RICHARDS-RUNDLE syndrome Orphanet:1399 Orphanet MONDO:0009495 Keutel syndrome oio:hasExactSynonym oio:hasRelatedSynonym KEUTEL syndrome KEUTEL syndrome Keutel syndrome Orphanet:85202 Keutel syndrome OMIM:245150 updated KEUTEL syndrome Orphanet:85202 Orphanet MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E3-binding PROTEIN deficiency pyruvate dehydrogenase E3-binding PROTEIN deficiency Pyruvate dehydrogenase E3-binding protein deficiency Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency OMIM:245349 updated pyruvate dehydrogenase E3-binding PROTEIN deficiency Orphanet:255182 Orphanet MONDO:0009504 mitochondrial DNA depletion syndrome 9 oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile lactic acidosis with methylmalonic aciduria fatal infantile lactic acidosis with methylmalonic aciduria Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 updated fatal infantile lactic acidosis with methylmalonic aciduria Orphanet:17 Orphanet -MONDO:0009509 Landau-Kleffner syndrome oio:hasExactSynonym oio:hasRelatedSynonym benign epilepsy of childhood with centrotemporal spikes benign epilepsy of childhood with centrotemporal spikes Benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 Rolandic epilepsy OMIM:245570 updated benign epilepsy of childhood with centrotemporal spikes Orphanet:1945 Orphanet MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Laurence-MOON syndrome Laurence-MOON syndrome Laurence-Moon syndrome Orphanet:2377 Laurence-Moon syndrome OMIM:245800 updated Laurence-MOON syndrome Orphanet:2377 Orphanet -MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym LCAT deficiency Orphanet:650 LCAT deficiency OMIM:245900 updated LCAT deficiency Orphanet:650 Orphanet MONDO:0009515 Norum disease oio:hasExactSynonym oio:hasRelatedSynonym familial LCAT deficiency familial LCAT deficiency Familial LCAT deficiency Orphanet:79293 Familial LCAT deficiency Orphanet:79293 updated familial LCAT deficiency Orphanet:79293 Orphanet MONDO:0009520 3-hydroxy-3-methylglutaric aciduria oio:hasExactSynonym oio:hasRelatedSynonym HMG-Coa lyase deficiency HMG-Coa lyase deficiency HMG-CoA lyase deficiency Orphanet:20 3-hydroxy-3-methylglutaric aciduria OMIM:246450 updated HMG-Coa lyase deficiency Orphanet:20 Orphanet MONDO:0009525 split hand-foot malformation 3 oio:hasExactSynonym oio:hasRelatedSynonym distal limb deficiencies-micrognathia syndrome distal limb deficiencies-micrognathia syndrome Distal limb deficiencies-micrognathia syndrome Orphanet:1307 Distal limb deficiencies-micrognathia syndrome Orphanet:1307 updated distal limb deficiencies-micrognathia syndrome Orphanet:1307 Orphanet MONDO:0009529 pyruvate dehydrogenase E3 deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dld deficiency Dld deficiency DLD deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency OMIM:246900 updated Dld deficiency Orphanet:2394 Orphanet MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae Orphanet:530 Lipoid proteinosis OMIM:247100 updated hyalinosis cutis Et mucosae Orphanet:530 Orphanet -MONDO:0009549 severe early-childhood-onset retinal dystrophy oio:hasExactSynonym oio:hasRelatedSynonym fundus flavimaculatus fundus flavimaculatus Fundus flavimaculatus Orphanet:827 Stargardt disease OMIM:248200 updated fundus flavimaculatus Orphanet:827 Orphanet MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda Orphanet:87503 Mal de Meleda OMIM:248300 updated MAL DE Meleda Orphanet:87503 Orphanet MONDO:0009556 malonic aciduria oio:hasExactSynonym oio:hasRelatedSynonym malonic acidemia malonic acidemia Malonic acidemia Orphanet:943 Malonic aciduria GARD:0003371 updated malonic acidemia Orphanet:943 Orphanet -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia Orphanet:2457 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 updated mandibuloacral dysplasia Orphanet:2457 Orphanet MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 updated MANDIBULOACRAL dysplasia with type A lipodystrophy Orphanet:90153 Orphanet MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MADA Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:248370, MONDO:Lexical updated MADA Orphanet:90153 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009560 oculotrichoanal syndrome oio:hasExactSynonym oio:hasRelatedSynonym MANITOBA oculotrichoanal syndrome MANITOBA oculotrichoanal syndrome Manitoba oculotrichoanal syndrome Orphanet:2717 Oculotrichoanal syndrome MONDO:Lexical, OMIM:248450 updated MANITOBA oculotrichoanal syndrome Orphanet:2717 Orphanet MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency Orphanet:61 Alpha-mannosidosis OMIM:248500 updated lysosomal Alpha-D-mannosidase deficiency Orphanet:61 Orphanet -MONDO:0009563 maple syrup urine disease oio:hasExactSynonym oio:hasRelatedSynonym dihydrolipoamide dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Orphanet:2394 Pyruvate dehydrogenase E3 deficiency DOID:9269, OMIM:246900 updated dihydrolipoamide dehydrogenase deficiency Orphanet:2394 Orphanet MONDO:0009564 Marden-Walker syndrome oio:hasExactSynonym oio:hasRelatedSynonym MARDEN-WALKER syndrome MARDEN-WALKER syndrome Marden-Walker syndrome Orphanet:2461 Marden-Walker syndrome OMIM:248700 updated MARDEN-WALKER syndrome Orphanet:2461 Orphanet MONDO:0009567 Marinesco-Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marinesco-Sjögren syndrome Orphanet:559 Marinesco-Sjögren syndrome Orphanet:559 updated Marinesco-Sjögren syndrome Orphanet:559 Orphanet MONDO:0009579 Frank-Ter Haar syndrome oio:hasExactSynonym oio:hasRelatedSynonym FRANK-TER Haar syndrome FRANK-TER Haar syndrome Frank-Ter Haar syndrome Orphanet:137834 Frank-Ter Haar syndrome OMIM:249420 updated FRANK-TER Haar syndrome Orphanet:137834 Orphanet MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria Orphanet:1035, GARD:0000654 updated Beta-mercaptolactate cysteine disulfiduria Orphanet:1035 Orphanet MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria oio:hasExactSynonym oio:hasRelatedSynonym MCDU Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:249650 updated MCDU Orphanet:1035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym arylsulfatase A deficiency arylsulfatase A deficiency Arylsulfatase A deficiency Orphanet:512 Metachromatic leukodystrophy GARD:0003230, OMIM:250100 updated arylsulfatase A deficiency Orphanet:512 Orphanet -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym metachromatic leukodystrophy metachromatic leukodystrophy Metachromatic leukodystrophy Orphanet:512 Metachromatic leukodystrophy OMIM:250100 updated metachromatic leukodystrophy Orphanet:512 Orphanet -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Mld MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:250100 updated MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009591 metachromatic leukodystrophy, juvenile form oio:hasExactSynonym oio:hasRelatedSynonym MLD Orphanet:512 Metachromatic leukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003230, OMIM:250100 updated MLD Orphanet:512 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009595 cartilage-hair hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym metaphyseal chondrodysplasia, Mckusick type metaphyseal chondrodysplasia, Mckusick type Metaphyseal chondrodysplasia, McKusick type Orphanet:175 Cartilage-hair hypoplasia OMIM:250250 updated metaphyseal chondrodysplasia, Mckusick type Orphanet:175 Orphanet MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym brachydactyly-short stature-retinitis pigmentosa syndrome brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 updated brachydactyly-short stature-retinitis pigmentosa syndrome Orphanet:166035 Orphanet MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym valine metabolic defect valine metabolic defect Valine metabolic defect Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620, Orphanet:88639 updated valine metabolic defect Orphanet:88639 Orphanet @@ -111273,10 +108040,8 @@ MONDO:0009626 pseudo-TORCH syndrome oio:hasExactSynonym oio:hasRelatedSynonym co MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 updated mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Orphanet:279934 Orphanet MONDO:0009642 orofaciodigital syndrome type II oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 2 orofaciodigital syndrome type 2 Orofaciodigital syndrome type 2 Orphanet:2751 Orofaciodigital syndrome type 2 Orphanet:2751 updated orofaciodigital syndrome type 2 Orphanet:2751 Orphanet MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym oio:hasRelatedSynonym Arsb deficiency Arsb deficiency ARSB deficiency Orphanet:583 Mucopolysaccharidosis type 6 OMIM:253200 updated Arsb deficiency Orphanet:583 Orphanet -MONDO:0009666 holocarboxylase synthetase deficiency oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency Orphanet:148 Multiple carboxylase deficiency NCIT:C98842 updated multiple carboxylase deficiency Orphanet:148 Orphanet MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasBroadSynonym infantile spinal muscular atrophy infantile spinal muscular atrophy Infantile spinal muscular atrophy Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 updated infantile spinal muscular atrophy Orphanet:83330 Orphanet MONDO:0009669 spinal muscular atrophy, type 1 oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 1 proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 1 Orphanet:83330 Proximal spinal muscular atrophy type 1 Orphanet:83330 updated proximal spinal muscular atrophy type 1 Orphanet:83330 Orphanet -MONDO:0009670 lethal congenital contracture syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym LCCS Lccs LCCS Orphanet:294965 Lethal congenital contracture syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:253310 updated LCCS Orphanet:294965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasBroadSynonym juvenile spinal muscular atrophy juvenile spinal muscular atrophy Juvenile spinal muscular atrophy Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 updated juvenile spinal muscular atrophy Orphanet:83419 Orphanet MONDO:0009672 spinal muscular atrophy, type III oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 3 proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 3 Orphanet:83419 Proximal spinal muscular atrophy type 3 Orphanet:83419 updated proximal spinal muscular atrophy type 3 Orphanet:83419 Orphanet MONDO:0009673 spinal muscular atrophy, type II oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 2 proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 2 Orphanet:83418 Proximal spinal muscular atrophy type 2 Orphanet:83418 updated proximal spinal muscular atrophy type 2 Orphanet:83418 Orphanet @@ -111284,22 +108049,14 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2H limb-girdle muscular dystrophy type 2H Limb-girdle muscular dystrophy type 2H Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 GARD:0003844 updated limb-girdle muscular dystrophy type 2H Orphanet:1878 Orphanet MONDO:0009691 mycosis fungoides oio:hasExactSynonym oio:hasRelatedSynonym classic mycosis fungoides classic mycosis fungoides Classic mycosis fungoides Orphanet:2584 Classic mycosis fungoides Orphanet:2584 updated classic mycosis fungoides Orphanet:2584 Orphanet MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia Orphanet:824 Primary myelofibrosis OMIM:254450, Orphanet:824 updated myelofibrosis with myeloid metaplasia Orphanet:824 Orphanet -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis Orphanet:85443 AL amyloidosis OMIM:254500 updated Al amyloidosis Orphanet:85443 Orphanet MONDO:0009697 Lafora disease oio:hasExactSynonym oio:hasRelatedSynonym EPM2 Epm2 EPM2 Orphanet:501 Lafora disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254780 updated EPM2 Orphanet:501 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym ULD Uld ULD Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:254800 updated ULD Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym EPM1 Orphanet:308 Progressive myoclonic epilepsy type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003876 updated EPM1 Orphanet:308 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009698 Unverricht-Lundborg syndrome oio:hasExactSynonym oio:hasRelatedSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy Orphanet:98261 Progressive myoclonic epilepsy OMIM:254800 updated progressive myoclonic epilepsy Orphanet:98261 Orphanet MONDO:0009708 myopathy, myosin storage, autosomal recessive oio:hasExactSynonym oio:hasRelatedSynonym MSMB Orphanet:636970 Autosomal recessive myosin storage myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:255160 updated MSMB Orphanet:636970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0009722 Bailey-Bloch congenital myopathy oio:hasExactSynonym oio:hasRelatedSynonym NAM Orphanet:206569 Immune-mediated necrotizing myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED OMIM:255995, MONDO:Lexical updated NAM Orphanet:206569 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009727 atelosteogenesis type II oio:hasExactSynonym oio:hasRelatedSynonym De la Chapelle dysplasia Orphanet:56304 Atelosteogenesis type II Orphanet:56304 updated De la Chapelle dysplasia Orphanet:56304 Orphanet -MONDO:0009736 Neu-Laxova syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Neu-Laxova syndrome Orphanet:2671 Neu-Laxova syndrome OMIM:256520 updated Neu-Laxova syndrome Orphanet:2671 Orphanet -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis Orphanet:309279 Glycoproteinosis DOID:3343 updated glycoproteinosis Orphanet:309279 Orphanet -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis Orphanet:309294 Sialidosis DOID:3343 updated sialidosis Orphanet:309294 Orphanet -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis Orphanet:812 Sialidosis type 1 OMIM:256550 updated lipomucopolysaccharidosis Orphanet:812 Orphanet MONDO:0009745 neuronal ceroid lipofuscinosis 5 oio:hasExactSynonym oio:hasRelatedSynonym CLN5 disease Orphanet:228360 CLN5 disease Orphanet:228360 updated CLN5 disease Orphanet:228360 Orphanet MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 oio:hasExactSynonym oio:hasRelatedSynonym CIPA Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:256800 updated CIPA Orphanet:642 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009772 oculorenocerebellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym ORC syndrome Orphanet:2715 Severe oculo-renal-cerebellar syndrome OMIM:257970 updated ORC syndrome Orphanet:2715 Orphanet -MONDO:0009773 odonto-onycho-dermal dysplasia oio:hasExactSynonym oio:hasBroadSynonym ectodermal dysplasia ectodermal dysplasia Ectodermal dysplasia Orphanet:79373 Ectodermal dysplasia syndrome OMIM:257980 updated ectodermal dysplasia Orphanet:79373 Orphanet MONDO:0009774 cloacal exstrophy oio:hasExactSynonym oio:hasRelatedSynonym OEIS complex Orphanet:93929 Cloacal exstrophy Orphanet:93929, OMIM:258040 updated OEIS complex Orphanet:93929 Orphanet MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia Orphanet:2746 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 updated OPSISMODYSPLASIA Orphanet:2746 Orphanet MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSynonym oral-Facial-digital syndrome with retinal abnormalities oral-Facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with retinal abnormalities Orphanet:141007 Orofaciodigital syndrome type 9 OMIM:258865 updated oral-Facial-digital syndrome with retinal abnormalities Orphanet:141007 Orphanet @@ -111307,14 +108064,11 @@ MONDO:0009795 orofaciodigital syndrome IX oio:hasExactSynonym oio:hasRelatedSyno MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym oio:hasRelatedSynonym gyrate atrophy of choroid and retina gyrate atrophy of choroid and retina Gyrate atrophy of choroid and retina Orphanet:414 Gyrate atrophy of choroid and retina MONDO:Lexical, OMIM:258870 updated gyrate atrophy of choroid and retina Orphanet:414 Orphanet MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria Orphanet:30 Hereditary orotic aciduria Orphanet:30 updated hereditary orotic aciduria Orphanet:30 Orphanet MONDO:0009813 chronic recurrent multifocal osteomyelitis oio:hasExactSynonym oio:hasRelatedSynonym chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Orphanet:324964 updated chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis Orphanet:324964 Orphanet -MONDO:0009821 lethal osteosclerotic bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym RNS Orphanet:71273 Renal nutcracker syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:259775 updated RNS Orphanet:71273 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis GARD:0007708 updated Dawson encephalitis Orphanet:2806 Orphanet MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Orphanet:2806 Subacute sclerosing leukoencephalitis Orphanet:2806 updated Subacute sclerosing leukoencephalitis Orphanet:2806 Orphanet -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma Orphanet:251899 Choroid plexus carcinoma OMIM:260500 updated choroid plexus carcinoma Orphanet:251899 Orphanet MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus papilloma of choroid plexus Papilloma of choroid plexus Orphanet:2807 Papilloma of choroid plexus OMIM:260500, MONDO:Lexical, NCIT:C3698 updated papilloma of choroid plexus Orphanet:2807 Orphanet MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym CPP Orphanet:2807 Papilloma of choroid plexus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2807, OMIM:260500, MONDO:Lexical updated CPP Orphanet:2807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009838 Parana hard-skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Parana hard skin syndrome Orphanet:2812 Parana hard skin syndrome Orphanet:2812 updated Parana hard skin syndrome Orphanet:2812 Orphanet -MONDO:0009841 PEHO syndrome oio:hasExactSynonym oio:hasRelatedSynonym peho-like syndrome peho-like syndrome PEHO-like syndrome Orphanet:99807 PEHO-like syndrome OMIM:260565 updated peho-like syndrome Orphanet:99807 Orphanet MONDO:0009845 pelviscapular dysplasia oio:hasExactSynonym oio:hasRelatedSynonym COUSIN syndrome COUSIN syndrome Cousin syndrome Orphanet:93333 Pelviscapular dysplasia OMIM:260660 updated COUSIN syndrome Orphanet:93333 Orphanet MONDO:0009852 hereditary intrinsic factor deficiency oio:hasExactSynonym oio:hasBroadSynonym intrinsic factor deficiency intrinsic factor deficiency Intrinsic factor deficiency Orphanet:332 Congenital intrinsic factor deficiency Orphanet:332, MONDO:Lexical, OMIM:261000 updated intrinsic factor deficiency Orphanet:332 Orphanet MONDO:0009855 d-bifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym bifunctional enzyme deficiency bifunctional enzyme deficiency Bifunctional enzyme deficiency Orphanet:300 Bifunctional enzyme deficiency GARD:0004539 updated bifunctional enzyme deficiency Orphanet:300 Orphanet @@ -111325,11 +108079,6 @@ MONDO:0009867 lethal congenital glycogen storage disease of heart oio:hasExactSy MONDO:0009868 glycogen storage disease IXb oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to liver and muscle phosphorylase kinase deficiency glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 updated glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Orphanet:79240 Orphanet MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym isolated Pierre Robin syndrome isolated Pierre Robin syndrome Isolated Pierre Robin syndrome Orphanet:718 Isolated Pierre Robin syndrome Orphanet:718 updated isolated Pierre Robin syndrome Orphanet:718 Orphanet MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym oio:hasRelatedSynonym BJörnstad syndrome BJörnstad syndrome Björnstad syndrome Orphanet:123 Björnstad syndrome Orphanet:123 updated BJörnstad syndrome Orphanet:123 Orphanet -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital IGHD congenital IGHD Congenital IGHD Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 updated congenital IGHD Orphanet:631 Orphanet -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated GH deficiency congenital isolated GH deficiency Congenital isolated GH deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 updated congenital isolated GH deficiency Orphanet:631 Orphanet -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym congenital isolated growth hormone deficiency congenital isolated growth hormone deficiency Congenital isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 updated congenital isolated growth hormone deficiency Orphanet:631 Orphanet -MONDO:0009876 isolated growth hormone deficiency type IA oio:hasExactSynonym oio:hasRelatedSynonym non-acquired isolated growth hormone deficiency non-acquired isolated growth hormone deficiency Non-acquired isolated growth hormone deficiency Orphanet:631 Non-acquired isolated growth hormone deficiency GARD:0007399 updated non-acquired isolated growth hormone deficiency Orphanet:631 Orphanet -MONDO:0009877 Laron syndrome oio:hasExactSynonym oio:hasRelatedSynonym growth hormone insensitivity syndrome growth hormone insensitivity syndrome Growth hormone insensitivity syndrome Orphanet:181393 Growth hormone insensitivity syndrome OMIM:262500 updated growth hormone insensitivity syndrome Orphanet:181393 Orphanet MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome Orphanet:629 Short stature due to growth hormone qualitative anomaly OMIM:262650 updated KOWARSKI syndrome Orphanet:629 Orphanet MONDO:0009883 alpha-2-plasmin inhibitor deficiency oio:hasExactSynonym oio:hasRelatedSynonym congenital alpha2-antiplasmin deficiency congenital alpha2-antiplasmin deficiency Congenital alpha2-antiplasmin deficiency Orphanet:79 Congenital alpha2-antiplasmin deficiency Orphanet:79 updated congenital alpha2-antiplasmin deficiency Orphanet:79 Orphanet MONDO:0009892 Chuvash polycythemia oio:hasExactSynonym oio:hasRelatedSynonym Chuvash erythrocytosis Orphanet:238557 Chuvash erythrocytosis Orphanet:238557 updated Chuvash erythrocytosis Orphanet:238557 Orphanet @@ -111337,46 +108086,33 @@ MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym cong MONDO:0009902 cutaneous porphyria oio:hasExactSynonym oio:hasRelatedSynonym CEP Cep CEP Orphanet:79277 Congenital erythropoietic porphyria http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:263700 updated CEP Orphanet:79277 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency oio:hasExactSynonym oio:hasRelatedSynonym pterin-4 alpha-carbinolamine dehydratase deficiency pterin-4 alpha-carbinolamine dehydratase deficiency Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 updated pterin-4 alpha-carbinolamine dehydratase deficiency Orphanet:1578 Orphanet MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum Orphanet:758 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 updated pseudoxanthoma elasticum Orphanet:758 Orphanet -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome Orphanet:294060 Multiple pterygium syndrome OMIM:265000, GARD:0007111 updated multiple pterygium syndrome Orphanet:294060 Orphanet MONDO:0009936 familial primary pulmonary hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym primary pulmonary hypoplasia primary pulmonary hypoplasia Primary pulmonary hypoplasia Orphanet:2257 Primary pulmonary hypoplasia Orphanet:2257 updated primary pulmonary hypoplasia Orphanet:2257 Orphanet MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Umph1 deficiency Umph1 deficiency UMPH1 deficiency Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency OMIM:266120 updated Umph1 deficiency Orphanet:35120 Orphanet -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym glutathione synthetase deficiency glutathione synthetase deficiency Glutathione synthetase deficiency Orphanet:32 Glutathione synthetase deficiency OMIM:266130, MONDO:Lexical updated glutathione synthetase deficiency Orphanet:32 Orphanet MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency Orphanet:3008 Pyruvate carboxylase deficiency OMIM:266150 updated pyruvate carboxylase deficiency Orphanet:3008 Orphanet -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym primitive renal tubule syndrome primitive renal tubule syndrome Primitive renal tubule syndrome Orphanet:3033 Renal tubular dysgenesis OMIM:267430 updated primitive renal tubule syndrome Orphanet:3033 Orphanet -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis Orphanet:3033 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 updated renal tubular dysgenesis Orphanet:3033 Orphanet MONDO:0009971 respiratory distress syndrome in premature infants oio:hasExactSynonym oio:hasRelatedSynonym hyaline Membrane disease hyaline Membrane disease Hyaline membrane disease Orphanet:70587 Infant acute respiratory distress syndrome OMIM:267450 updated hyaline Membrane disease Orphanet:70587 Orphanet MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome oio:hasExactSynonym oio:hasRelatedSynonym retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 updated retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Orphanet:3085 Orphanet MONDO:0009999 autosomal recessive Robinow syndrome oio:hasExactSynonym oio:hasRelatedSynonym Covesdem syndrome Covesdem syndrome COVESDEM syndrome Orphanet:1507 Autosomal recessive Robinow syndrome OMIM:268310 updated Covesdem syndrome Orphanet:1507 Orphanet MONDO:0010008 sarcosinemia oio:hasExactSynonym oio:hasRelatedSynonym sarcosine dehydrogenase complex deficiency sarcosine dehydrogenase complex deficiency Sarcosine dehydrogenase complex deficiency Orphanet:3129 Sarcosinemia OMIM:268900, Orphanet:3129 updated sarcosine dehydrogenase complex deficiency Orphanet:3129 Orphanet -MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:2462 Shprintzen-Goldberg syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 updated SGS Orphanet:2462 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010010 Schinzel-Giedion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGS Sgs SGS Orphanet:798 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:269150 updated SGS Orphanet:798 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010015 anterior segment dysgenesis 7 oio:hasExactSynonym oio:hasRelatedSynonym congenital cataract microcornea with corneal opacity congenital cataract microcornea with corneal opacity Congenital cataract microcornea with corneal opacity Orphanet:289499 Congenital cataract microcornea with corneal opacity Orphanet:289499 updated congenital cataract microcornea with corneal opacity Orphanet:289499 Orphanet MONDO:0010017 sea-blue histiocyte syndrome oio:hasExactSynonym oio:hasRelatedSynonym sea-blue histiocytosis sea-blue histiocytosis Sea-blue histiocytosis Orphanet:158029 Sea-blue histiocytosis OMIM:269600 updated sea-blue histiocytosis Orphanet:158029 Orphanet MONDO:0010024 Beemer-Langer syndrome oio:hasExactSynonym oio:hasRelatedSynonym short rib-polydactyly syndrome, Beemer-Langer type short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 updated short rib-polydactyly syndrome, Beemer-Langer type Orphanet:93268 Orphanet -MONDO:0010029 situs inversus oio:hasExactSynonym oio:hasRelatedSynonym situs ambiguus situs ambiguus Situs ambiguus Orphanet:157769 Situs ambiguus NCIT:C87121 updated situs ambiguus Orphanet:157769 Orphanet MONDO:0010030 Sjogren syndrome oio:hasExactSynonym oio:hasRelatedSynonym primary Sjögren syndrome primary Sjögren syndrome Primary Sjögren syndrome Orphanet:289390 Primary Sjögren syndrome Orphanet:289390 updated primary Sjögren syndrome Orphanet:289390 Orphanet MONDO:0010031 Sjogren-Larsson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sjögren-Larsson syndrome Orphanet:816 Sjögren-Larsson syndrome GARD:0007654 updated Sjögren-Larsson syndrome Orphanet:816 Orphanet -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 1 peeling skin syndrome 1 Peeling skin syndrome 1 Orphanet:263553 Peeling skin syndrome type B MONDO:Lexical, OMIM:270300 updated peeling skin syndrome 1 Orphanet:263553 Orphanet -MONDO:0010033 generalized peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300, MONDO:Lexical updated PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010041 Charlevoix-Saguenay spastic ataxia oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay OMIM:270550 updated autosomal recessive spastic ataxia of Charlevoix-Saguenay Orphanet:98 Orphanet MONDO:0010046 hereditary spastic paraplegia 23 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 23 autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 Autosomal recessive spastic paraplegia type 23 Orphanet:101003 updated autosomal recessive spastic paraplegia type 23 Orphanet:101003 Orphanet MONDO:0010056 spinal muscular atrophy, type IV oio:hasExactSynonym oio:hasRelatedSynonym proximal spinal muscular atrophy type 4 proximal spinal muscular atrophy type 4 Proximal spinal muscular atrophy type 4 Orphanet:83420 Proximal spinal muscular atrophy type 4 Orphanet:83420 updated proximal spinal muscular atrophy type 4 Orphanet:83420 Orphanet MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 updated autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Orphanet:95433 Orphanet MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type oio:hasExactSynonym oio:hasRelatedSynonym Sponastrime dysplasia Sponastrime dysplasia SPONASTRIME dysplasia Orphanet:93357 SPONASTRIME dysplasia OMIM:271510 updated Sponastrime dysplasia Orphanet:93357 Orphanet MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Acy2 deficiency Acy2 deficiency ACY2 deficiency Orphanet:141 Canavan disease OMIM:271900 updated Acy2 deficiency Orphanet:141 Orphanet -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis Orphanet:1576 Infantile bilateral striatal necrosis OMIM:271930 updated infantile bilateral striatal necrosis Orphanet:1576 Orphanet MONDO:0010083 succinic semialdehyde dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Ssadh deficiency Ssadh deficiency SSADH deficiency Orphanet:22 Succinic semialdehyde dehydrogenase deficiency OMIM:271980 updated Ssadh deficiency Orphanet:22 Orphanet MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency Orphanet:585 Multiple sulfatase deficiency MONDO:Lexical, OMIM:272200 updated multiple sulfatase deficiency Orphanet:585 Orphanet MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome Orphanet:3255 Filippi syndrome OMIM:272440 updated FILIPPI syndrome Orphanet:3255 Orphanet MONDO:0010099 Tay-Sachs disease AB variant oio:hasExactSynonym oio:hasRelatedSynonym GM2 gangliosidosis, AB variant Orphanet:309246 GM2 gangliosidosis, AB variant Orphanet:309246 updated GM2 gangliosidosis, AB variant Orphanet:309246 Orphanet MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease Orphanet:845 Tay-Sachs disease OMIM:272800 updated TAY-Sachs disease Orphanet:845 Orphanet -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor Orphanet:876 Yolk sac tumor OMIM:273300 updated endodermal sinus tumor Orphanet:876 Orphanet -MONDO:0010108 testicular germ cell tumor oio:hasExactSynonym oio:hasRelatedSynonym spermatocytic seminoma spermatocytic seminoma Spermatocytic seminoma Orphanet:99865 Spermatocytic seminoma OMIM:273300 updated spermatocytic seminoma Orphanet:99865 Orphanet MONDO:0010121 thrombocytopenia-absent radius syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tar syndrome Tar syndrome TAR syndrome Orphanet:3320 Thrombocytopenia-absent radius syndrome OMIM:274000 updated Tar syndrome Orphanet:3320 Orphanet -MONDO:0010122 congenital thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:274150 updated TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010148 Mounier-Kuhn syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mounier-Kühn syndrome Orphanet:3347 Mounier-Kühn syndrome Orphanet:3347 updated Mounier-Kühn syndrome Orphanet:3347 Orphanet MONDO:0010149 transcobalamin II deficiency oio:hasExactSynonym oio:hasRelatedSynonym transcobalamin deficiency transcobalamin deficiency Transcobalamin deficiency Orphanet:859 Transcobalamin deficiency Orphanet:859 updated transcobalamin deficiency Orphanet:859 Orphanet -MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym CDS Orphanet:79172 Creatine deficiency syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:275630 updated CDS Orphanet:79172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym Dorfman-Chanarin syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 updated Dorfman-Chanarin syndrome Orphanet:98907 Orphanet MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym neutral Lipid storage disease with ichthyosis neutral Lipid storage disease with ichthyosis Neutral lipid storage disease with ichthyosis Orphanet:98907 Neutral lipid storage disease with ichthyosis OMIM:275630 updated neutral Lipid storage disease with ichthyosis Orphanet:98907 Orphanet MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym DCS DCs DCS Orphanet:98907 Neutral lipid storage disease with ichthyosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003979 updated DCS Orphanet:98907 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -111386,8 +108122,6 @@ MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym Fah d MONDO:0010161 tyrosinemia type I oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 1 tyrosinemia type 1 Tyrosinemia type 1 Orphanet:882 Tyrosinemia type 1 GARD:0002658 updated tyrosinemia type 1 Orphanet:882 Orphanet MONDO:0010162 tyrosinemia type III oio:hasExactSynonym oio:hasRelatedSynonym tyrosinemia type 3 tyrosinemia type 3 Tyrosinemia type 3 Orphanet:69723 Tyrosinemia type 3 GARD:0010332 updated tyrosinemia type 3 Orphanet:69723 Orphanet MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 updated Mayer-Rokitansky-Küster-Hauser syndrome type 1 Orphanet:247775 Orphanet -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym MRKH syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100, OMIM:277000 updated MRKH syndrome Orphanet:3109 Orphanet -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oio:hasExactSynonym oio:hasRelatedSynonym Rokitansky syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome GARD:0007100 updated Rokitansky syndrome Orphanet:3109 Orphanet MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 updated Váradi syndrome Orphanet:2754 Orphanet MONDO:0010176 orofaciodigital syndrome type 6 oio:hasExactSynonym oio:hasRelatedSynonym Váradi-Papp syndrome Orphanet:2754 Orofaciodigital syndrome type 6 GARD:0004412 updated Váradi-Papp syndrome Orphanet:2754 Orphanet MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF oio:hasExactSynonym oio:hasRelatedSynonym methylmalonic acidemia with homocystinuria type cblF methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 updated methylmalonic acidemia with homocystinuria type cblF Orphanet:79284 Orphanet @@ -111404,25 +108138,17 @@ MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthin MONDO:0010209 xanthinuria type I oio:hasExactSynonym oio:hasBroadSynonym xanthine oxidoreductase deficiency xanthine oxidoreductase deficiency Xanthine oxidoreductase deficiency Orphanet:93601 Xanthinuria type I Orphanet:93601 updated xanthine oxidoreductase deficiency Orphanet:93601 Orphanet MONDO:0010214 xeroderma pigmentosum variant type oio:hasExactSynonym oio:hasRelatedSynonym xeroderma pigmentosum variant xeroderma pigmentosum variant Xeroderma pigmentosum variant Orphanet:90342 Xeroderma pigmentosum variant Orphanet:90342 updated xeroderma pigmentosum variant Orphanet:90342 Orphanet MONDO:0010220 Young syndrome oio:hasExactSynonym oio:hasRelatedSynonym sinusitis-infertility syndrome sinusitis-infertility syndrome Sinusitis-infertility syndrome Orphanet:3471 Young syndrome OMIM:279000 updated sinusitis-infertility syndrome Orphanet:3471 Orphanet -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy Orphanet:139399 Adrenomyeloneuropathy OMIM:300100 updated adrenomyeloneuropathy Orphanet:139399 Orphanet -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym ALD Orphanet:43 X-linked adrenoleukodystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300100, MONDO:Lexical updated ALD Orphanet:43 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS-MR Ats-Mr ATS-MR Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300194 updated ATS-MR Orphanet:86818 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasBroadSynonym AHC Orphanet:2131 Alternating hemiplegia of childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300200, MONDO:Lexical updated AHC Orphanet:2131 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010264 X-linked adrenal hypoplasia congenita oio:hasExactSynonym oio:hasRelatedSynonym X-linked AHC Orphanet:95702 X-linked adrenal hypoplasia congenita GARD:0000555 updated X-linked AHC Orphanet:95702 Orphanet MONDO:0010277 syndromic X-linked intellectual disability Shashi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shashi type Orphanet:85286 X-linked intellectual disability, Shashi type Orphanet:85286 updated X-linked intellectual disability, Shashi type Orphanet:85286 Orphanet MONDO:0010281 Danon disease oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease due to LAMP-2 deficiency glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 Danon disease Orphanet:34587 updated glycogen storage disease due to LAMP-2 deficiency Orphanet:34587 Orphanet MONDO:0010283 syndromic X-linked intellectual disability Lubs type oio:hasExactSynonym oio:hasRelatedSynonym MECP2 Duplication syndrome MECP2 Duplication syndrome MECP2 duplication syndrome Orphanet:1762 Proximal Xq28 duplication syndrome OMIM:300260 updated MECP2 Duplication syndrome Orphanet:1762 Orphanet MONDO:0010285 syndromic X-linked intellectual disability Abidi type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Abidi type Orphanet:85273 X-linked intellectual disability, Abidi type Orphanet:85273 updated X-linked intellectual disability, Abidi type Orphanet:85273 Orphanet MONDO:0010286 syndromic X-linked intellectual disability Siderius type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Siderius type Orphanet:85287 X-linked intellectual disability, Siderius type Orphanet:85287 updated X-linked intellectual disability, Siderius type Orphanet:85287 Orphanet -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym HPRT deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 updated HPRT deficiency Orphanet:206428 Orphanet -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM:300322 updated Hprt1 deficiency Orphanet:206428 Orphanet MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency OMIM:300323 updated KELLEY-Seegmiller syndrome Orphanet:79233 Orphanet MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym oio:hasRelatedSynonym X-linked creatine transporter deficiency Orphanet:52503 X-linked creatine transporter deficiency Orphanet:52503 updated X-linked creatine transporter deficiency Orphanet:52503 Orphanet MONDO:0010310 osteopathia striata with cranial sclerosis oio:hasExactSynonym oio:hasRelatedSynonym osteopathia striata-cranial sclerosis syndrome osteopathia striata-cranial sclerosis syndrome Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome Orphanet:2780 updated osteopathia striata-cranial sclerosis syndrome Orphanet:2780 Orphanet MONDO:0010319 syndromic X-linked intellectual disability Hedera type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Hedera type Orphanet:93952 X-linked intellectual disability, Hedera type Orphanet:93952 updated X-linked intellectual disability, Hedera type Orphanet:93952 Orphanet -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym HSD10 deficiency, atypical type Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 updated HSD10 deficiency, atypical type Orphanet:85295 Orphanet -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295, DOID:0060810 updated X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 Orphanet -MONDO:0010327 HSD10 mitochondrial disease oio:hasExactSynonym oio:hasNarrowSynonym syndromic X-linked intellectual disability type 10 syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 10 Orphanet:85295 HSD10 disease, atypical type MONDO:0010272, Orphanet:85295 updated syndromic X-linked intellectual disability type 10 Orphanet:85295 Orphanet MONDO:0010336 orofaciodigital syndrome VIII oio:hasExactSynonym oio:hasRelatedSynonym orofaciodigital syndrome type 8 orofaciodigital syndrome type 8 Orofaciodigital syndrome type 8 Orphanet:2755 Orofaciodigital syndrome type 8 Orphanet:2755 updated orofaciodigital syndrome type 8 Orphanet:2755 Orphanet MONDO:0010338 X-linked distal spinal muscular atrophy type 3 oio:hasExactSynonym oio:hasRelatedSynonym DSMAX Dsmax DSMAX Orphanet:139557 X-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300489 updated DSMAX Orphanet:139557 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome oio:hasExactSynonym oio:hasRelatedSynonym deafness-intellectual disability syndrome, Martin-Probst type deafness-intellectual disability syndrome, Martin-Probst type Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 updated deafness-intellectual disability syndrome, Martin-Probst type Orphanet:85321 Orphanet @@ -111435,14 +108161,11 @@ MONDO:0010403 albinism-hearing loss syndrome oio:hasExactSynonym oio:hasNarrowSy MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome oio:hasExactSynonym oio:hasRelatedSynonym Star syndrome Star syndrome STAR syndrome Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM:300707 updated Star syndrome Orphanet:140952 Orphanet MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Shrimpton type Orphanet:85324 X-linked intellectual disability, Shrimpton type Orphanet:85324 updated X-linked intellectual disability, Shrimpton type Orphanet:85324 Orphanet MONDO:0010417 syndromic X-linked intellectual disability Najm type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Najm type Orphanet:163937 X-linked intellectual disability, Najm type Orphanet:163937 updated X-linked intellectual disability, Najm type Orphanet:163937 Orphanet -MONDO:0010420 X-linked erythropoietic protoporphyria oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:443197 updated XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease Orphanet:90001 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 updated BORNHOLM eye disease Orphanet:90001 Orphanet MONDO:0010461 syndromic X-linked intellectual disability Nascimento type oio:hasExactSynonym oio:hasRelatedSynonym X-linked intellectual disability, Nascimento type Orphanet:163956 X-linked intellectual disability, Nascimento type Orphanet:163956 updated X-linked intellectual disability, Nascimento type Orphanet:163956 Orphanet MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 updated X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961 Orphanet MONDO:0010476 neurodegeneration with brain iron accumulation 5 oio:hasExactSynonym oio:hasRelatedSynonym static encephalopathy of childhood with neurodegeneration in adulthood static encephalopathy of childhood with neurodegeneration in adulthood Static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 Beta-propeller protein-associated neurodegeneration OMIM:300894 updated static encephalopathy of childhood with neurodegeneration in adulthood Orphanet:329284 Orphanet MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 oio:hasExactSynonym oio:hasRelatedSynonym CMT6X Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110207, Orphanet:352675 updated CMT6X Orphanet:352675 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:3342 Arterial tortuosity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 updated ATS Orphanet:3342 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010520 X-linked Alport syndrome oio:hasExactSynonym oio:hasRelatedSynonym ATS Orphanet:595109 Atypical Timothy syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, DOID:0110034, OMIM:301050 updated ATS Orphanet:595109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 updated X-linked sideroblastic anemia and spinocerebellar ataxia Orphanet:2802 Orphanet MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym oio:hasRelatedSynonym XLSA-A Xlsa-A XLSA-A Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION MESH:C536358 updated XLSA-A Orphanet:2802 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010529 X-linked spinocerebellar ataxia type 3 oio:hasExactSynonym oio:hasRelatedSynonym SCAX3 Scax3 SCAX3 Orphanet:85297 X-linked spinocerebellar ataxia type 3 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:301790 updated SCAX3 Orphanet:85297 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -111450,26 +108173,16 @@ MONDO:0010534 X-linked spinocerebellar ataxia type 4 oio:hasExactSynonym oio:has MONDO:0010537 Borjeson-Forssman-Lehmann syndrome oio:hasExactSynonym oio:hasRelatedSynonym Borjeson-FORSSMAN-Lehmann syndrome Borjeson-FORSSMAN-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome Orphanet:127 Borjeson-Forssman-Lehmann syndrome OMIM:301900 updated Borjeson-FORSSMAN-Lehmann syndrome Orphanet:127 Orphanet MONDO:0010543 Barth syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARTH syndrome BARTH syndrome Barth syndrome Orphanet:111 Barth syndrome OMIM:302060 updated BARTH syndrome Orphanet:111 Orphanet MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasRelatedSynonym CMT1X Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:101075, DOID:0110209 updated CMT1X Orphanet:101075 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMT2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 updated CMT2 Orphanet:64746 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 oio:hasExactSynonym oio:hasBroadSynonym CMTX Orphanet:64747 X-linked Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:302800 updated CMTX Orphanet:64747 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010559 MASA syndrome oio:hasExactSynonym oio:hasRelatedSynonym CRASH syndrome Orphanet:275543 L1 syndrome DOID:0060246 updated CRASH syndrome Orphanet:275543 Orphanet MONDO:0010561 Coffin-Lowry syndrome oio:hasExactSynonym oio:hasRelatedSynonym COFFIN-Lowry syndrome COFFIN-Lowry syndrome Coffin-Lowry syndrome Orphanet:192 Coffin-Lowry syndrome OMIM:303600 updated COFFIN-Lowry syndrome Orphanet:192 Orphanet MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym PETTIGREW syndrome PETTIGREW syndrome Pettigrew Syndrome Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome MONDO:Lexical, OMIM:304340 updated PETTIGREW syndrome Orphanet:1568 Orphanet -MONDO:0010574 syndromic X-linked intellectual disability 5 oio:hasExactSynonym oio:hasRelatedSynonym fried syndrome fried syndrome Fried syndrome Orphanet:85335 Fried syndrome DOID:0060800 updated fried syndrome Orphanet:85335 Orphanet MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MOHR-Tranebjaerg syndrome MOHR-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome Orphanet:52368 Mohr-Tranebjaerg syndrome OMIM:304700, MONDO:Lexical updated MOHR-Tranebjaerg syndrome Orphanet:52368 Orphanet -MONDO:0010578 deafness dystonia syndrome oio:hasExactSynonym oio:hasRelatedSynonym MTS Orphanet:675404 May-Thurner syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:304700, MONDO:Lexical updated MTS Orphanet:675404 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym FG syndrome type 1 Orphanet:93932 FG syndrome type 1 Orphanet:93932 updated FG syndrome type 1 Orphanet:93932 Orphanet MONDO:0010590 FG syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym Opitz-Kaveggia syndrome Orphanet:93932 FG syndrome type 1 MONDO:Lexical, OMIM:305450 updated Opitz-Kaveggia syndrome Orphanet:93932 Orphanet -MONDO:0010604 hemophilia B oio:hasExactSynonym oio:hasRelatedSynonym hemophilia B Leyden hemophilia B Leyden Hemophilia B Leyden Orphanet:617930 Hemophilia B Leyden OMIM:306900 updated hemophilia B Leyden Orphanet:617930 Orphanet -MONDO:0010613 inborn glycerol kinase deficiency oio:hasExactSynonym oio:hasRelatedSynonym hyperglycerolemia hyperglycerolemia Hyperglycerolemia Orphanet:408 Isolated glycerol kinase deficiency OMIM:307030 updated hyperglycerolemia Orphanet:408 Orphanet MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemia Orphanet:89936 X-linked hypophosphatemia DOID:0050445 updated X-linked hypophosphatemia Orphanet:89936 Orphanet MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym oio:hasBroadSynonym X-linked hypophosphatemic rickets Orphanet:89936 X-linked hypophosphatemia Orphanet:89936 updated X-linked hypophosphatemic rickets Orphanet:89936 Orphanet MONDO:0010621 CHILD syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 CHILD syndrome OMIM:308050 updated congenital hemidysplasia with ichthyosiform erythroderma and limb defects Orphanet:139 Orphanet MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked lymphoproliferative disease Orphanet:2442 X-linked lymphoproliferative disease Orphanet:2442 updated X-linked lymphoproliferative disease Orphanet:2442 Orphanet MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasRelatedSynonym XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2442 updated XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym X-linked lymphoproliferative syndrome type 1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency DOID:0060705, MONDORULE:1 updated X-linked lymphoproliferative syndrome type 1 Orphanet:538931 Orphanet -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym oio:hasNarrowSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060705 updated XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym laryngeal abductor paralysis laryngeal abductor paralysis Laryngeal abductor paralysis Orphanet:2808 Laryngeal abductor paralysis OMIM:308850 updated laryngeal abductor paralysis Orphanet:2808 Orphanet MONDO:0010650 Melnick-Needles syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELNICK-NEEDLES syndrome MELNICK-NEEDLES syndrome Melnick-Needles syndrome Orphanet:2484 Melnick-Needles syndrome OMIM:309350 updated MELNICK-NEEDLES syndrome Orphanet:2484 Orphanet MONDO:0010655 X-linked intellectual disability with marfanoid habitus oio:hasExactSynonym oio:hasRelatedSynonym LUJAN-Fryns syndrome LUJAN-Fryns syndrome Lujan-Fryns syndrome Orphanet:776 Lujan-Fryns syndrome OMIM:309520 updated LUJAN-Fryns syndrome Orphanet:776 Orphanet MONDO:0010656 intellectual disability, X-linked 1 oio:hasExactSynonym oio:hasRelatedSynonym severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 updated severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933 Orphanet @@ -111477,7 +108190,6 @@ MONDO:0010664 syndromic X-linked intellectual disability Snyder type oio:hasExac MONDO:0010668 skeletal dysplasia-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 updated X-linked skeletal dysplasia-intellectual disability syndrome Orphanet:1436 Orphanet MONDO:0010706 premature ovarian failure 1 oio:hasExactSynonym oio:hasRelatedSynonym fragile X-associated primary ovarian insufficiency fragile X-associated primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency Orphanet:642691 Fragile X-associated primary ovarian insufficiency GARD:0004480 updated fragile X-associated primary ovarian insufficiency Orphanet:642691 Orphanet MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome MONDO:Lexical, OMIM:311510 updated WAISMAN syndrome Orphanet:2379 Orphanet -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase Complex deficiency Pyruvate dehydrogenase complex deficiency Orphanet:765 Pyruvate dehydrogenase deficiency OMIM:312170 updated pyruvate dehydrogenase Complex deficiency Orphanet:765 Orphanet MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasBroadSynonym pyruvate decarboxylase deficiency pyruvate decarboxylase deficiency Pyruvate decarboxylase deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 updated pyruvate decarboxylase deficiency Orphanet:79243 Orphanet MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency oio:hasExactSynonym oio:hasRelatedSynonym pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-ALPHA deficiency Pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency OMIM:312170 updated pyruvate dehydrogenase E1-ALPHA deficiency Orphanet:79243 Orphanet MONDO:0010731 Simpson-Golabi-Behmel syndrome oio:hasExactSynonym oio:hasRelatedSynonym SGBS Sgbs SGBS Orphanet:373 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:312870 updated SGBS Orphanet:373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -111487,17 +108199,10 @@ MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss oio:hasExac MONDO:0010789 MELAS syndrome oio:hasExactSynonym oio:hasRelatedSynonym MELAS Orphanet:550 MELAS http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:540000 updated MELAS Orphanet:550 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia Orphanet:466 Fatal familial insomnia OMIM:600072 updated fatal familial INSOMNIA Orphanet:466 Orphanet MONDO:0010830 neuronal ceroid lipofuscinosis 8 oio:hasExactSynonym oio:hasRelatedSynonym CLN8 disease Orphanet:228354 CLN8 disease Orphanet:228354 updated CLN8 disease Orphanet:228354 Orphanet -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal dysgenesis syndrome caudal dysgenesis syndrome Caudal dysgenesis syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145, GARD:0004751 updated caudal dysgenesis syndrome Orphanet:3027 Orphanet -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym caudal regression syndrome caudal regression syndrome Caudal regression syndrome Orphanet:3027 Caudal regression syndrome OMIM:600145 updated caudal regression syndrome Orphanet:3027 Orphanet -MONDO:0010831 familial caudal dysgenesis oio:hasExactSynonym oio:hasRelatedSynonym sirenomelia sirenomelia Sirenomelia Orphanet:3169 Sirenomelia OMIM:600145 updated sirenomelia Orphanet:3169 Orphanet MONDO:0010842 multiple cutaneous and mucosal venous malformations oio:hasExactSynonym oio:hasRelatedSynonym mucocutaneous venous malformations mucocutaneous venous malformations Mucocutaneous venous malformations Orphanet:2451 Mucocutaneous venous malformations Orphanet:2451 updated mucocutaneous venous malformations Orphanet:2451 Orphanet MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oio:hasExactSynonym oio:hasRelatedSynonym PKDTS Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600273 updated PKDTS Orphanet:88924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym frontotemporal dementia frontotemporal dementia Frontotemporal dementia Orphanet:282 Frontotemporal dementia MONDO:Lexical, OMIM:600274 updated frontotemporal dementia Orphanet:282 Orphanet -MONDO:0010857 semantic dementia oio:hasExactSynonym oio:hasRelatedSynonym FTD Orphanet:282 Frontotemporal dementia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:600274 updated FTD Orphanet:282 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:420611 Transient myeloproliferative syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 updated TMD Orphanet:420611 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010870 tibial muscular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym TMD Tmd TMD Orphanet:609 Tibial muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600334 updated TMD Orphanet:609 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010907 familial hypertryptophanemia oio:hasExactSynonym oio:hasBroadSynonym hypertryptophanemia hypertryptophanemia Hypertryptophanemia Orphanet:2224 Hypertryptophanemia OMIM:600627, OMIM:genemap2 updated hypertryptophanemia Orphanet:2224 Orphanet -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia Orphanet:93976 Anotia MESH:D065817 updated anotia Orphanet:93976 Orphanet MONDO:0010932 progressive bifocal chorioretinal atrophy oio:hasExactSynonym oio:hasRelatedSynonym CRAPB Crapb CRAPB Orphanet:75373 Progressive bifocal chorioretinal atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:600790 updated CRAPB Orphanet:75373 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome Orphanet:2460 Van den Ende-Gupta syndrome OMIM:600920 updated VAN DEN Ende-Gupta syndrome Orphanet:2460 Orphanet MONDO:0010966 achondrogenesis type IB oio:hasExactSynonym oio:hasRelatedSynonym achondrogenesis type 1B achondrogenesis type 1B Achondrogenesis type 1B Orphanet:93298 Achondrogenesis type 1B Orphanet:93298 updated achondrogenesis type 1B Orphanet:93298 Orphanet @@ -111506,21 +108211,17 @@ MONDO:0010979 Timothy syndrome oio:hasExactSynonym oio:hasRelatedSynonym LQT8 MONDO:0010983 dystonia 9 oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal dystonic choreathetosis with episodic ataxia and spasticity paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 updated paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Orphanet:53583 Orphanet MONDO:0010997 supranuclear palsy, progressive, 1 oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease Orphanet:240071 Classic progressive supranuclear palsy syndrome Orphanet:240071 updated Steele-Richardson-Olszewski disease Orphanet:240071 Orphanet MONDO:0011010 Matthew-Wood syndrome oio:hasExactSynonym oio:hasRelatedSynonym spear syndrome spear syndrome Spear syndrome Orphanet:2470 Matthew-Wood syndrome OMIM:601186 updated spear syndrome Orphanet:2470 Orphanet -MONDO:0011014 pleuropulmonary blastoma oio:hasExactSynonym oio:hasRelatedSynonym PPB familial tumor and dysplasia syndrome Orphanet:284343 DICER1 tumor-predisposition syndrome OMIM:601200 updated PPB familial tumor and dysplasia syndrome Orphanet:284343 Orphanet MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym proximal 11P deletion syndrome proximal 11P deletion syndrome Proximal 11p deletion syndrome Orphanet:52022 Potocki-Shaffer syndrome OMIM:601224 updated proximal 11P deletion syndrome Orphanet:52022 Orphanet -MONDO:0011022 Potocki-Shaffer syndrome oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601224 updated PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, CAYMAN type cerebellar ataxia, CAYMAN type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type OMIM:601238 updated cerebellar ataxia, CAYMAN type Orphanet:94122 Orphanet MONDO:0011025 Cayman type cerebellar ataxia oio:hasExactSynonym oio:hasRelatedSynonym cerebellar ataxia, Cayman type cerebellar ataxia, Cayman type Cerebellar ataxia, Cayman type Orphanet:94122 Cerebellar ataxia, Cayman type MONDO:Lexical, OMIM:601238 updated cerebellar ataxia, Cayman type Orphanet:94122 Orphanet MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasBroadSynonym delta-sarcoglycanopathy delta-sarcoglycanopathy Delta-sarcoglycanopathy Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 DOID:0110280, Orphanet:219 updated delta-sarcoglycanopathy Orphanet:219 Orphanet MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2F limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2F Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 GARD:0008573 updated limb-girdle muscular dystrophy type 2F Orphanet:219 Orphanet MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NICOLAIDES-Baraitser syndrome NICOLAIDES-Baraitser syndrome Nicolaides-Baraitser syndrome Orphanet:3051 Nicolaides-Baraitser syndrome MONDO:Lexical, OMIM:601358 updated NICOLAIDES-Baraitser syndrome Orphanet:3051 Orphanet -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym NBS NBs NBS Orphanet:647 Nijmegen breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601358 updated NBS Orphanet:647 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011065 Hunter-McAlpine craniosynostosis oio:hasExactSynonym oio:hasRelatedSynonym Hunter-McAlpine syndrome Orphanet:97340 Hunter-McAlpine syndrome GARD:0002754 updated Hunter-McAlpine syndrome Orphanet:97340 Orphanet MONDO:0011073 diabetes mellitus, transient neonatal, 1 oio:hasExactSynonym oio:hasRelatedSynonym TNDM Tndm TNDM Orphanet:99886 Transient neonatal diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601410 updated TNDM Orphanet:99886 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011082 oculoauriculofrontonasal syndrome oio:hasExactSynonym oio:hasRelatedSynonym OCULOAURICULOFRONTONASAL syndrome OCULOAURICULOFRONTONASAL syndrome Oculoauriculofrontonasal syndrome Orphanet:398156 Oculoauriculofrontonasal syndrome OMIM:601452 updated OCULOAURICULOFRONTONASAL syndrome Orphanet:398156 Orphanet MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive oio:hasExactSynonym oio:hasRelatedSynonym severe combined immunodeficiency due to complete RAG1/2 deficiency severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 updated severe combined immunodeficiency due to complete RAG1/2 deficiency Orphanet:331206 Orphanet MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency Orphanet:67041 Hyaluronidase deficiency OMIM:601492 updated hyaluronidase deficiency Orphanet:67041 Orphanet -MONDO:0011099 human HOXA1 syndromes oio:hasExactSynonym oio:hasRelatedSynonym Bosley-Salih-Alorainy syndrome Orphanet:69737 Bosley-Salih-Alorainy syndrome OMIM:601536 updated Bosley-Salih-Alorainy syndrome Orphanet:69737 Orphanet MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy oio:hasExactSynonym oio:hasRelatedSynonym hypotrichosis with juvenile macular degeneration hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular degeneration Orphanet:1573 Hypotrichosis with juvenile macular degeneration Orphanet:1573 updated hypotrichosis with juvenile macular degeneration Orphanet:1573 Orphanet MONDO:0011109 multiple epiphyseal dysplasia, Lowry type oio:hasExactSynonym oio:hasRelatedSynonym multiple epiphyseal dysplasia with ROBIN phenotype multiple epiphyseal dysplasia with ROBIN phenotype Multiple epiphyseal dysplasia with Robin phenotype Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type OMIM:601560 updated multiple epiphyseal dysplasia with ROBIN phenotype Orphanet:166016 Orphanet MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oio:hasExactSynonym oio:hasRelatedSynonym SEMDAD Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:601668 updated SEMDAD Orphanet:168451 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -111549,55 +108250,37 @@ MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasRelatedSy MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type oio:hasExactSynonym oio:hasRelatedSynonym blepharophimosis-intellectual disability syndrome, Verloes type blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type OMIM:604314 updated blepharophimosis-intellectual disability syndrome, Verloes type Orphanet:293725 Orphanet MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency oio:hasExactSynonym oio:hasRelatedSynonym Mcgrath syndrome Mcgrath syndrome McGrath syndrome Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome OMIM:604536 updated Mcgrath syndrome Orphanet:158668 Orphanet MONDO:0011510 Bohring-Opitz syndrome oio:hasExactSynonym oio:hasRelatedSynonym BOHRING-Opitz syndrome BOHRING-Opitz syndrome Bohring-Opitz syndrome Orphanet:97297 Bohring-Opitz syndrome OMIM:605039 updated BOHRING-Opitz syndrome Orphanet:97297 Orphanet -MONDO:0011512 Brooke-Spiegler syndrome oio:hasExactSynonym oio:hasRelatedSynonym BRSS Orphanet:2353 Schilbach-Rott syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605041 updated BRSS Orphanet:2353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011532 hereditary spastic paraplegia 13 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 13 autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 Autosomal dominant spastic paraplegia type 13 Orphanet:100994 updated autosomal dominant spastic paraplegia type 13 Orphanet:100994 Orphanet MONDO:0011533 temtamy preaxial brachydactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TEMTAMY preaxial brachydactyly syndrome TEMTAMY preaxial brachydactyly syndrome Temtamy preaxial brachydactyly syndrome Orphanet:363417 Temtamy preaxial brachydactyly syndrome OMIM:605282 updated TEMTAMY preaxial brachydactyly syndrome Orphanet:363417 Orphanet MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym MMDS1 Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605711 updated MMDS1 Orphanet:401869 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011584 Fanconi anemia complementation group D1 oio:hasExactSynonym oio:hasRelatedSynonym inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 updated inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Orphanet:319462 Orphanet MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 oio:hasExactSynonym oio:hasRelatedSynonym distal hereditary motor neuropathy, Jerash type distal hereditary motor neuropathy, Jerash type Distal hereditary motor neuropathy, Jerash type Orphanet:139552 Distal hereditary motor neuropathy, Jerash type Orphanet:139552 updated distal hereditary motor neuropathy, Jerash type Orphanet:139552 Orphanet MONDO:0011595 nonsyndromic congenital nail disorder 7 oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital onychodysplasia isolated congenital onychodysplasia Isolated congenital onychodysplasia Orphanet:79144 Isolated congenital onychodysplasia Orphanet:79144 updated isolated congenital onychodysplasia Orphanet:79144 Orphanet -MONDO:0011603 GNE myopathy oio:hasExactSynonym oio:hasRelatedSynonym NM Orphanet:607 Nemaline myopathy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:605820 updated NM Orphanet:607 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011610 dimethylglycine dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dmgdh deficiency Dmgdh deficiency DMGDH deficiency Orphanet:243343 Dimethylglycine dehydrogenase deficiency OMIM:605850 updated Dmgdh deficiency Orphanet:243343 Orphanet MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy Orphanet:407 Glycine encephalopathy OMIM:605899 updated GLYCINE encephalopathy Orphanet:407 Orphanet MONDO:0011624 transaldolase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Taldo deficiency Taldo deficiency TALDO deficiency Orphanet:101028 Transaldolase deficiency OMIM:606003 updated Taldo deficiency Orphanet:101028 Orphanet MONDO:0011628 propionic acidemia oio:hasExactSynonym oio:hasRelatedSynonym propionyl-Coa carboxylase deficiency propionyl-Coa carboxylase deficiency Propionyl-CoA carboxylase deficiency Orphanet:35 Propionic acidemia OMIM:606054 updated propionyl-Coa carboxylase deficiency Orphanet:35 Orphanet MONDO:0011640 genitopatellar syndrome oio:hasExactSynonym oio:hasRelatedSynonym GENITOPATELLAR syndrome GENITOPATELLAR syndrome Genitopatellar syndrome Orphanet:85201 Genitopatellar syndrome OMIM:606170 updated GENITOPATELLAR syndrome Orphanet:85201 Orphanet -MONDO:0011652 Phelan-McDermid syndrome oio:hasExactSynonym oio:hasRelatedSynonym chromosome 22Q13.3 deletion syndrome chromosome 22Q13.3 deletion syndrome Chromosome 22q13.3 deletion syndrome Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion OMIM:606232 updated chromosome 22Q13.3 deletion syndrome Orphanet:662169 Orphanet MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft PART sarcoma alveolar soft PART sarcoma Alveolar soft part sarcoma Orphanet:163699 Alveolar soft tissue sarcoma OMIM:606243, MONDO:Lexical updated alveolar soft PART sarcoma Orphanet:163699 Orphanet MONDO:0011655 alveolar soft part sarcoma oio:hasExactSynonym oio:hasRelatedSynonym alveolar soft tissue sarcoma alveolar soft tissue sarcoma Alveolar soft tissue sarcoma Orphanet:163699 Alveolar soft tissue sarcoma Orphanet:163699 updated alveolar soft tissue sarcoma Orphanet:163699 Orphanet MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant intermediate Charcot-Marie-Tooth disease type B autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 updated autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet:100044 Orphanet MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym Momes syndrome Momes syndrome MOMES syndrome Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome OMIM:606772 updated Momes syndrome Orphanet:397973 Orphanet -MONDO:0011749 oculocutaneous albinism type 1B oio:hasExactSynonym oio:hasRelatedSynonym OCA1-TS Oca1-Ts OCA1-TS Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:606952 updated OCA1-TS Orphanet:352737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011759 Hurler-Scheie syndrome oio:hasExactSynonym oio:hasRelatedSynonym mucopolysaccharidosis type Ih/S mucopolysaccharidosis type Ih/S Mucopolysaccharidosis type IH/S Orphanet:93476 Hurler-Scheie syndrome OMIM:607015 updated mucopolysaccharidosis type Ih/S Orphanet:93476 Orphanet MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2I limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2I Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 GARD:0012533 updated limb-girdle muscular dystrophy type 2I Orphanet:34515 Orphanet MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with axonal neuropathy type 1 spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 updated spinocerebellar ataxia with axonal neuropathy type 1 Orphanet:94124 Orphanet MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym CEDS Ceds CEDS Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607271 updated CEDS Orphanet:275517 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B oio:hasExactSynonym oio:hasRelatedSynonym Ceds Ceds cEDS Orphanet:287 Classical Ehlers-Danlos syndrome OMIM:607271 updated Ceds Orphanet:287 Orphanet -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical band heterotopia subcortical band heterotopia Subcortical band heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 updated subcortical band heterotopia Orphanet:99796 Orphanet -MONDO:0011830 lissencephaly due to LIS1 mutation oio:hasExactSynonym oio:hasRelatedSynonym subcortical laminar heterotopia subcortical laminar heterotopia Subcortical laminar heterotopia Orphanet:99796 Subcortical band heterotopia OMIM:607432 updated subcortical laminar heterotopia Orphanet:99796 Orphanet -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym spinocerebellar ataxia with epilepsy spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with epilepsy Orphanet:254881 Spinocerebellar ataxia with epilepsy OMIM:607459 updated spinocerebellar ataxia with epilepsy Orphanet:254881 Orphanet MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oio:hasExactSynonym oio:hasRelatedSynonym sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 updated sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Orphanet:70595 Orphanet -MONDO:0011855 granular corneal dystrophy type II oio:hasExactSynonym oio:hasRelatedSynonym CDA Orphanet:85 Congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607541 updated CDA Orphanet:85 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym Nisch syndrome Nisch syndrome NISCH syndrome Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM:607626 updated Nisch syndrome Orphanet:59303 Orphanet MONDO:0011883 Curly hair - acral keratoderma - caries syndrome oio:hasExactSynonym oio:hasRelatedSynonym CHACS Chacs CHACS Orphanet:307766 Curly hair-acral keratoderma-caries syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607656 updated CHACS Orphanet:307766 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hopp syndrome Hopp syndrome HOPP syndrome Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome OMIM:607658 updated Hopp syndrome Orphanet:307936 Orphanet MONDO:0011886 torsion dystonia 13 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT13 type primary dystonia, DYT13 type Primary dystonia, DYT13 type Orphanet:98807 Primary dystonia, DYT13 type Orphanet:98807 updated primary dystonia, DYT13 type Orphanet:98807 Orphanet MONDO:0011889 Charcot-Marie-Tooth disease type 2I oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2I autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 updated autosomal dominant Charcot-Marie-Tooth disease type 2I Orphanet:99942 Orphanet -MONDO:0011895 idiopathic hypereosinophilic syndrome oio:hasExactSynonym oio:hasRelatedSynonym HES Orphanet:168956 Hypereosinophilic syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:607685, MONDO:Lexical updated HES Orphanet:168956 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 updated hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 Orphanet -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome DOID:0060794 updated hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 Orphanet -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome oio:hasExactSynonym oio:hasRelatedSynonym dentoleukoencephalopathy dentoleukoencephalopathy Dentoleukoencephalopathy Orphanet:77295 Odontoleukodystrophy DOID:0060794 updated dentoleukoencephalopathy Orphanet:77295 Orphanet MONDO:0011903 Charcot-Marie-Tooth disease type 2J oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2J autosomal dominant Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 updated autosomal dominant Charcot-Marie-Tooth disease type 2J Orphanet:99943 Orphanet -MONDO:0011904 seizures, benign familial infantile, 3 oio:hasExactSynonym oio:hasRelatedSynonym benign familial infantile convulsions benign familial infantile convulsions Benign familial infantile convulsions Orphanet:306 Benign familial infantile epilepsy GARD:0001518 updated benign familial infantile convulsions Orphanet:306 Orphanet MONDO:0011906 congenital bile acid synthesis defect 1 oio:hasExactSynonym oio:hasRelatedSynonym 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 Congenital bile acid synthesis defect type 1 OMIM:607765 updated 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency Orphanet:79301 Orphanet -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukemia chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Orphanet:98823 Chronic myelomonocytic leukemia NCIT:C9233 updated chronic myelomonocytic leukemia Orphanet:98823 Orphanet -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K oio:hasExactSynonym oio:hasRelatedSynonym CMT2K Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:607831 updated CMT2K Orphanet:99944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy type 1A congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1A Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy Orphanet:258 updated congenital muscular dystrophy type 1A Orphanet:258 Orphanet -MONDO:0011959 sweet syndrome oio:hasExactSynonym oio:hasRelatedSynonym AFND Afnd AFND Orphanet:1827 Acromelic frontonasal dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608068 updated AFND Orphanet:1827 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0011975 paternal uniparental disomy of chromosome 14 oio:hasExactSynonym oio:hasRelatedSynonym KAGAMI-Ogata syndrome KAGAMI-Ogata syndrome Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome OMIM:608149 updated KAGAMI-Ogata syndrome Orphanet:254519 Orphanet MONDO:0011977 8q22.1 microdeletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym NABLUS mask-like facial syndrome NABLUS mask-like facial syndrome Nablus mask-like facial syndrome Orphanet:178303 8q22.1 microdeletion syndrome OMIM:608156, MONDO:Lexical updated NABLUS mask-like facial syndrome Orphanet:178303 Orphanet MONDO:0011997 Hermansky-Pudlak syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Orphanet:183678 updated Hermansky-Pudlak syndrome with neutropenia Orphanet:183678 Orphanet -MONDO:0012013 Weill-Marchesani syndrome 2, dominant oio:hasExactSynonym oio:hasBroadSynonym spherophakia-brachymorphia syndrome spherophakia-brachymorphia syndrome Spherophakia-brachymorphia syndrome Orphanet:3449 Weill-Marchesani syndrome OMIM:608328 updated spherophakia-brachymorphia syndrome Orphanet:3449 Orphanet MONDO:0012016 capillary malformation-arteriovenous malformation syndrome oio:hasExactSynonym oio:hasRelatedSynonym capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354, MONDO:Lexical updated capillary malformation-arteriovenous malformation Orphanet:137667 Orphanet MONDO:0012020 chromosome 22q11.2 microduplication syndrome oio:hasExactSynonym oio:hasRelatedSynonym 22q11.2 duplication syndrome Orphanet:1727 22q11.2 duplication syndrome GARD:0010557 updated 22q11.2 duplication syndrome Orphanet:1727 Orphanet MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1F limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1F Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 GARD:0012530 updated limb-girdle muscular dystrophy type 1F Orphanet:55595 Orphanet @@ -111608,17 +108291,14 @@ MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym MONDO:0012089 ichthyosis prematurity syndrome oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis-prematurity syndrome ichthyosis-prematurity syndrome Ichthyosis-prematurity syndrome Orphanet:88621 Ichthyosis-prematurity syndrome Orphanet:88621 updated ichthyosis-prematurity syndrome Orphanet:88621 Orphanet MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 updated AICAR transformylase/IMP cyclohydrolase deficiency Orphanet:250977 Orphanet MONDO:0012099 AICA-ribosiduria oio:hasExactSynonym oio:hasRelatedSynonym Atic deficiency Atic deficiency ATIC deficiency Orphanet:250977 AICA-ribosiduria OMIM:608688 updated Atic deficiency Orphanet:250977 Orphanet -MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym oio:hasBroadSynonym ANCA-associated vasculitis Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis PMID:16887845, PMID:28148583 updated ANCA-associated vasculitis Orphanet:156152 Orphanet MONDO:0012117 ALG9-congenital disorder of glycosylation oio:hasExactSynonym oio:hasRelatedSynonym carbohydrate deficient glycoprotein syndrome type IL carbohydrate deficient glycoprotein syndrome type IL Carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 ALG9-CDG GARD:0009839 updated carbohydrate deficient glycoprotein syndrome type IL Orphanet:79328 Orphanet MONDO:0012123 congenital disorder of glycosylation type 1E oio:hasExactSynonym oio:hasRelatedSynonym DPM1-CDG Orphanet:79322 DPM1-CDG http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79322 updated DPM1-CDG Orphanet:79322 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 2J limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2J Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 GARD:0012534 updated limb-girdle muscular dystrophy type 2J Orphanet:140922 Orphanet MONDO:0012130 myofibrillar myopathy 2 oio:hasExactSynonym oio:hasRelatedSynonym alpha-B crystallin-related late-onset distal myopathy alpha-B crystallin-related late-onset distal myopathy Alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 Alpha-B crystallin-related late-onset myopathy Orphanet:399058 updated alpha-B crystallin-related late-onset distal myopathy Orphanet:399058 Orphanet MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym CARNEY complex variant CARNEY complex variant Carney complex variant Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome OMIM:608837 updated CARNEY complex variant Orphanet:319340 Orphanet -MONDO:0012155 choanal atresia oio:hasExactSynonym oio:hasRelatedSynonym PCA Orphanet:54247 Posterior cortical atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:608911, MONDO:Lexical updated PCA Orphanet:54247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012165 BNAR syndrome oio:hasExactSynonym oio:hasRelatedSynonym bifid NOSE with or without anorectal and renal anomalies bifid NOSE with or without anorectal and renal anomalies Bifid nose with or without anorectal and renal anomalies Orphanet:217266 BNAR syndrome MONDO:Lexical, OMIM:608980 updated bifid NOSE with or without anorectal and renal anomalies Orphanet:217266 Orphanet MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency Orphanet:746 Mitochondrial trifunctional protein deficiency OMIM:609015 updated mitochondrial trifunctional PROTEIN deficiency Orphanet:746 Orphanet MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome oio:hasExactSynonym oio:hasRelatedSynonym PCARP Pcarp PCARP Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609033 updated PCARP Orphanet:88628 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oio:hasExactSynonym oio:hasRelatedSynonym PACA paca PACA Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:609069, MONDO:Lexical updated PACA Orphanet:624268 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1G limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 1G Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 GARD:0012531 updated limb-girdle muscular dystrophy type 1G Orphanet:55596 Orphanet MONDO:0012198 PCWH syndrome oio:hasExactSynonym oio:hasRelatedSynonym peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 updated peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Orphanet:163746 Orphanet MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 oio:hasExactSynonym oio:hasRelatedSynonym KANZAKI disease KANZAKI disease Kanzaki disease Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 OMIM:609242 updated KANZAKI disease Orphanet:79280 Orphanet @@ -111632,7 +108312,6 @@ MONDO:0012289 myofibrillar myopathy 5 oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0012316 Majeed syndrome oio:hasExactSynonym oio:hasRelatedSynonym MAJEED syndrome MAJEED syndrome Majeed syndrome Orphanet:77297 Majeed syndrome OMIM:609628 updated MAJEED syndrome Orphanet:77297 Orphanet MONDO:0012334 hereditary spastic paraplegia 29 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant spastic paraplegia type 29 autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 Autosomal dominant spastic paraplegia type 29 Orphanet:101009 updated autosomal dominant spastic paraplegia type 29 Orphanet:101009 Orphanet MONDO:0012345 acral peeling skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym peeling skin syndrome 2 peeling skin syndrome 2 Peeling skin syndrome 2 Orphanet:263534 Acral peeling skin syndrome MONDO:Lexical, OMIM:609796 updated peeling skin syndrome 2 Orphanet:263534 Orphanet -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM:231530 updated 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 Orphanet MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 oio:hasExactSynonym oio:hasRelatedSynonym SCHAD deficiency Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Orphanet:71212, MESH:C535310, OMIM:231530 updated SCHAD deficiency Orphanet:71212 Orphanet MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym short/branched-chain acyl-Coa dehydrogenase deficiency short/branched-chain acyl-Coa dehydrogenase deficiency Short/branched-chain acyl-coA dehydrogenase deficiency Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency OMIM:610006 updated short/branched-chain acyl-Coa dehydrogenase deficiency Orphanet:79157 Orphanet MONDO:0012407 pyridoxal phosphate-responsive seizures oio:hasExactSynonym oio:hasRelatedSynonym Pnpo deficiency Pnpo deficiency PNPO deficiency Orphanet:79096 Pyridoxal phosphate-responsive seizures OMIM:610090 updated Pnpo deficiency Orphanet:79096 Orphanet @@ -111666,10 +108345,7 @@ MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 oio:hasExactSynonym oi MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia oio:hasExactSynonym oio:hasRelatedSynonym EBS with pyloric atresia Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia OMIM:612138 updated EBS with pyloric atresia Orphanet:158684 Orphanet MONDO:0012824 hypomyelinating leukodystrophy 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial Hsp60 chaperonopathy mitochondrial Hsp60 chaperonopathy Mitochondrial HSP60 chaperonopathy Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation OMIM:612233 updated mitochondrial Hsp60 chaperonopathy Orphanet:280288 Orphanet MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym 10q22.3q23.3 microdeletion syndrome Orphanet:276413 10q22.3q23.3 microdeletion syndrome Orphanet:276413 updated 10q22.3q23.3 microdeletion syndrome Orphanet:276413 Orphanet -MONDO:0012830 chromosome 10q23 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym juvenile polyposis of infancy juvenile polyposis of infancy Juvenile polyposis of infancy Orphanet:79076 Juvenile polyposis of infancy OMIM:612242 updated juvenile polyposis of infancy Orphanet:79076 Orphanet MONDO:0012856 Birk-Barel syndrome oio:hasExactSynonym oio:hasRelatedSynonym intellectual disability, Birk-Barel type intellectual disability, Birk-Barel type Intellectual disability, Birk-Barel type Orphanet:166108 Intellectual disability, Birk-Barel type Orphanet:166108 updated intellectual disability, Birk-Barel type Orphanet:166108 Orphanet -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SATB2-associated syndrome Orphanet:576278 SATB2-associated syndrome GARD:0013206 updated SATB2-associated syndrome Orphanet:576278 Orphanet -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym SAS Orphanet:576278 SATB2-associated syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0013206 updated SAS Orphanet:576278 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant oio:hasExactSynonym oio:hasRelatedSynonym protein S acquired deficiency protein S acquired deficiency Protein S acquired deficiency Orphanet:26349 Protein S acquired deficiency Orphanet:26349 updated protein S acquired deficiency Orphanet:26349 Orphanet MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type oio:hasExactSynonym oio:hasRelatedSynonym SCD-EDS Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:612350 updated SCD-EDS Orphanet:157965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012895 torsion dystonia 17 oio:hasExactSynonym oio:hasRelatedSynonym primary dystonia, DYT17 type primary dystonia, DYT17 type Primary dystonia, DYT17 type Orphanet:370103 Primary dystonia, DYT17 type Orphanet:370103 updated primary dystonia, DYT17 type Orphanet:370103 Orphanet @@ -111690,8 +108366,6 @@ MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies oio:hasExactSynonym oio:hasRelatedSynonym ROIFMAN-Chitayat syndrome ROIFMAN-Chitayat syndrome Roifman-Chitayat syndrome Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies OMIM:613328 updated ROIFMAN-Chitayat syndrome Orphanet:221139 Orphanet MONDO:0013232 brachydactylous dwarfism, Mseleni type oio:hasExactSynonym oio:hasRelatedSynonym Mseleni JOINT disease Mseleni JOINT disease Mseleni joint disease Orphanet:2619 Brachydactylous dwarfism, Mseleni type OMIM:613342 updated Mseleni JOINT disease Orphanet:2619 Orphanet MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome Orphanet:280558 Warsaw breakage syndrome OMIM:613398 updated WARSAW breakage syndrome Orphanet:280558 Orphanet -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym Witteveen-Kolk syndrome Orphanet:500163 Witteveen-Kolk syndrome OMIM:613406 updated Witteveen-Kolk syndrome Orphanet:500163 Orphanet -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym WITKOS Orphanet:500163 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:613406 updated WITKOS Orphanet:500163 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 updated ALPHA-1-antitrypsin deficiency Orphanet:60 Orphanet MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency Orphanet:60 Alpha-1-antitrypsin deficiency OMIM:613490 updated alpha-1-antitrypsin deficiency Orphanet:60 Orphanet MONDO:0013291 glycogen storage disease XV oio:hasExactSynonym oio:hasRelatedSynonym glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 updated glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Orphanet:263297 Orphanet @@ -111719,13 +108393,9 @@ MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency oio:hasExactSynonym oio: MONDO:0013615 craniosynostosis and dental anomalies oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis-dental anomalies craniosynostosis-dental anomalies Craniosynostosis-dental anomalies Orphanet:284149 Craniosynostosis-dental anomalies Orphanet:284149 updated craniosynostosis-dental anomalies Orphanet:284149 Orphanet MONDO:0013622 platelet-type bleeding disorder 9 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to integrin alpha2-beta1 deficiency bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 updated bleeding diathesis due to integrin alpha2-beta1 deficiency Orphanet:98886 Orphanet MONDO:0013623 platelet-type bleeding disorder 11 oio:hasExactSynonym oio:hasRelatedSynonym bleeding diathesis due to glycoprotein VI deficiency bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 updated bleeding diathesis due to glycoprotein VI deficiency Orphanet:98885 Orphanet -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasBroadSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar pustulosis Orphanet:163927 Pustulosis palmaris et plantaris OMIM:614204 updated palmoplantar pustulosis Orphanet:163927 Orphanet -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym generalized pustular psoriasis generalized pustular psoriasis Generalized pustular psoriasis Orphanet:247353 Generalized pustular psoriasis OMIM:614204 updated generalized pustular psoriasis Orphanet:247353 Orphanet -MONDO:0013626 psoriasis 14, pustular oio:hasExactSynonym oio:hasRelatedSynonym GPP Orphanet:247353 Generalized pustular psoriasis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:247353, OMIM:614204 updated GPP Orphanet:247353 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013674 neurodegeneration with brain iron accumulation 4 oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial membrane protein-associated neurodegeneration mitochondrial membrane protein-associated neurodegeneration Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 updated mitochondrial membrane protein-associated neurodegeneration Orphanet:289560 Orphanet MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym MMDS2 Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614299, MONDO:Lexical updated MMDS2 Orphanet:401874 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013688 linear and whorled nevoid hypermelanosis oio:hasExactSynonym oio:hasRelatedSynonym LWNH Orphanet:79150 Linear and whorled nevoid hypermelanosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:614323, MONDO:Lexical updated LWNH Orphanet:79150 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency Orphanet:309108 Pancreatic colipase deficiency OMIM:614338 updated pancreatic colipase deficiency Orphanet:309108 Orphanet MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome https://github.com/monarch-initiative/mondo/issues/1112 updated early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 Orphanet MONDO:0013731 MEGF10-related myopathy oio:hasExactSynonym oio:hasRelatedSynonym EMARDD Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:439212, MONDO:Lexical, OMIM:614399 updated EMARDD Orphanet:439212 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym oio:hasBroadSynonym autosomal SLE autosomal SLE Autosomal SLE Orphanet:300345 Autosomal systemic lupus erythematosus Orphanet:300345 updated autosomal SLE Orphanet:300345 Orphanet @@ -111734,7 +108404,6 @@ MONDO:0013743 autosomal systemic lupus erythematosus type 16 oio:hasExactSynonym MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P oio:hasExactSynonym oio:hasRelatedSynonym CMT2G Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99941, OMIM:608591, MONDO:Lexical updated CMT2G Orphanet:99941 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013766 familial cold autoinflammatory syndrome 3 oio:hasExactSynonym oio:hasRelatedSynonym PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 updated PLCG2-associated antibody deficiency and immune dysregulation Orphanet:300359 Orphanet MONDO:0013776 spastic ataxia 5 oio:hasExactSynonym oio:hasRelatedSynonym early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 updated early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Orphanet:313772 Orphanet -MONDO:0013781 pseudohypoaldosteronism type 2D oio:hasExactSynonym oio:hasRelatedSynonym familial hyperkalemic hypertension familial hyperkalemic hypertension Familial hyperkalemic hypertension Orphanet:757 Pseudohypoaldosteronism type 2 OMIM:614495 updated familial hyperkalemic hypertension Orphanet:757 Orphanet MONDO:0013803 leukoencephalopathy with calcifications and cysts oio:hasExactSynonym oio:hasRelatedSynonym Labrune syndrome Orphanet:542310 Leukoencephalopathy with calcifications and cysts OMIM:614561 updated Labrune syndrome Orphanet:542310 Orphanet MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 updated familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Orphanet:313846 Orphanet MONDO:0013808 Maffucci syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple enchondromatosis, Maffucci type multiple enchondromatosis, Maffucci type Multiple Enchondromatosis, Maffucci Type Orphanet:163634 Maffucci syndrome OMIM:614569 updated multiple enchondromatosis, Maffucci type Orphanet:163634 Orphanet @@ -111766,11 +108435,9 @@ MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome oio:hasExactSynonym oio:hasRelatedSynonym Sam syndrome Sam syndrome SAM syndrome Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome OMIM:615508 updated Sam syndrome Orphanet:369992 Orphanet MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome oio:hasExactSynonym oio:hasRelatedSynonym COLE disease COLE disease Cole disease Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:Lexical, OMIM:615522 updated COLE disease Orphanet:324561 Orphanet MONDO:0014234 reticulate acropigmentation of Kitamura oio:hasExactSynonym oio:hasRelatedSynonym RAK Orphanet:178307 Reticulate acropigmentation of Kitamura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615537, MONDO:Lexical updated RAK Orphanet:178307 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0014243 Schaaf-Yang syndrome oio:hasExactSynonym oio:hasRelatedSynonym Prader-Willi-like syndrome Orphanet:398073 Prader-Willi-like syndrome OMIM:615547 updated Prader-Willi-like syndrome Orphanet:398073 Orphanet MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym oio:hasRelatedSynonym COASY protein-associated neurodegeneration Orphanet:397725 COASY protein-associated neurodegeneration Orphanet:397725 updated COASY protein-associated neurodegeneration Orphanet:397725 Orphanet MONDO:0014298 chromosome 5q12 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym PDE4D haploinsufficiency syndrome Orphanet:439822 PDE4D haploinsufficiency syndrome Orphanet:439822 updated PDE4D haploinsufficiency syndrome Orphanet:439822 Orphanet MONDO:0014305 hereditary spastic paraplegia 63 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 63 autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 Autosomal recessive spastic paraplegia type 63 Orphanet:401805 updated autosomal recessive spastic paraplegia type 63 Orphanet:401805 Orphanet -MONDO:0014306 vasculitis due to ADA2 deficiency oio:hasExactSynonym oio:hasRelatedSynonym PAN Orphanet:767 Polyarteritis nodosa http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:615688, MONDO:Lexical updated PAN Orphanet:767 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement oio:hasExactSynonym oio:hasRelatedSynonym hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 updated hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Orphanet:221043 Orphanet MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym Salih ataxia Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency OMIM:615705 updated Salih ataxia Orphanet:404499 Orphanet MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 updated autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Orphanet:404499 Orphanet @@ -111811,42 +108478,30 @@ MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X oio:hasExactSynonym oio MONDO:0014732 hypomyelinating leukodystrophy 12 oio:hasExactSynonym oio:hasRelatedSynonym VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 updated VPS11-related autosomal recessive hypomyelinating leukodystrophy Orphanet:466934 Orphanet MONDO:0014735 Charcot-Marie-Tooth disease type 2Y oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2Y Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 updated autosomal dominant Charcot-Marie-Tooth disease type 2Y Orphanet:435387 Orphanet MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2Z autosomal dominant Charcot-Marie-Tooth disease type 2Z Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 updated autosomal dominant Charcot-Marie-Tooth disease type 2Z Orphanet:466768 Orphanet -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESANTO-SHINAWI syndrome DESANTO-SHINAWI syndrome Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 updated DESANTO-SHINAWI syndrome Orphanet:466943 Orphanet -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym Desanto-Shinawi syndrome Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome OMIM:616708 updated Desanto-Shinawi syndrome Orphanet:466943 Orphanet -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation oio:hasExactSynonym oio:hasBroadSynonym DESSH Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:616708 updated DESSH Orphanet:466943 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oio:hasExactSynonym oio:hasRelatedSynonym TAKENOUCHI-Kosaki syndrome TAKENOUCHI-Kosaki syndrome Takenouchi-Kosaki syndrome Orphanet:487796 Takenouchi-Kosaki syndrome OMIM:616737 updated TAKENOUCHI-Kosaki syndrome Orphanet:487796 Orphanet MONDO:0014760 TFRC-related combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined immunodeficiency due to TFRC deficiency combined immunodeficiency due to TFRC deficiency Combined immunodeficiency due to TFRC deficiency Orphanet:476113 Combined immunodeficiency due to TFRC deficiency Orphanet:476113 updated combined immunodeficiency due to TFRC deficiency Orphanet:476113 Orphanet MONDO:0014803 spasticity-ataxia-gait anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym childhood-onset spasticity with hyperglycinemia childhood-onset spasticity with hyperglycinemia Childhood-onset spasticity with hyperglycinemia Orphanet:401866 Childhood-onset spasticity with hyperglycinemia Orphanet:401866 updated childhood-onset spasticity with hyperglycinemia Orphanet:401866 Orphanet MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 updated DNAJB2-related Charcot-Marie-Tooth disease type 2 Orphanet:443950 Orphanet -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive axonal Charcot-Marie-Tooth disease type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T DOID:0110160 updated autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Orphanet:495274 Orphanet -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T oio:hasExactSynonym oio:hasRelatedSynonym AR-CMT2T Orphanet:495274 Charcot-Marie-Tooth disease type 2T http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0110160 updated AR-CMT2T Orphanet:495274 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014882 hereditary spastic paraplegia 77 oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive spastic paraplegia type 77 autosomal recessive spastic paraplegia type 77 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 Autosomal recessive spastic paraplegia type 77 Orphanet:466722 updated autosomal recessive spastic paraplegia type 77 Orphanet:466722 Orphanet MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym THAUVIN-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome Thauvin-Robinet-Faivre syndrome Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome OMIM:617107 updated THAUVIN-robinet-Faivre syndrome Orphanet:500095 Orphanet MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome OMIM:617140 updated Zhu-Tokita-Takenouchi-Kim syndrome Orphanet:500150 Orphanet MONDO:0014936 ZTTK syndrome oio:hasExactSynonym oio:hasRelatedSynonym brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 updated brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome Orphanet:500150 Orphanet MONDO:0015040 myelodysplastic syndrome with excess blasts-1 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 1 refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 1 Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 Orphanet:100019 updated refractory anemia with excess blasts type 1 Orphanet:100019 Orphanet MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym oio:hasRelatedSynonym refractory anemia with excess blasts type 2 refractory anemia with excess blasts type 2 Refractory anemia with excess blasts type 2 Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 Orphanet:100020 updated refractory anemia with excess blasts type 2 Orphanet:100020 Orphanet -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema oio:hasExactSynonym oio:hasRelatedSynonym reactive angioendotheliomatosis reactive angioendotheliomatosis Reactive angioendotheliomatosis Orphanet:673574 Reactive angioendotheliomatosis GARD:0009445 updated reactive angioendotheliomatosis Orphanet:673574 Orphanet MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym jejunal neuroendocrine tumor jejunal neuroendocrine tumor Jejunal neuroendocrine tumor Orphanet:100077 Jejunal neuroendocrine tumor Orphanet:100077 updated jejunal neuroendocrine tumor Orphanet:100077 Orphanet MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym ileal neuroendocrine tumor ileal neuroendocrine tumor Ileal neuroendocrine tumor Orphanet:100078 Ileal neuroendocrine tumor Orphanet:100078 updated ileal neuroendocrine tumor Orphanet:100078 Orphanet MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine neoplasm of appendix neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of appendix Orphanet:100079 Neuroendocrine neoplasm of appendix Orphanet:100079 updated neuroendocrine neoplasm of appendix Orphanet:100079 Orphanet MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of anal canal neuroendocrine tumor of anal canal Neuroendocrine tumor of anal canal Orphanet:100082 Neuroendocrine tumor of anal canal Orphanet:100082 updated neuroendocrine tumor of anal canal Orphanet:100082 Orphanet MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumor laryngeal neuroendocrine tumor Laryngeal neuroendocrine tumor Orphanet:100083 Laryngeal neuroendocrine tumor DOID:5457 updated laryngeal neuroendocrine tumor Orphanet:100083 Orphanet MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency Orphanet:101972 Combined T and B cell immunodeficiency Orphanet:101972 updated combined T and B cell immunodeficiency Orphanet:101972 Orphanet -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome Orphanet:99749 Kostmann syndrome NCIT:C61242 updated Kostmann syndrome Orphanet:99749 Orphanet MONDO:0015167 amniotic band syndrome oio:hasExactSynonym oio:hasRelatedSynonym amniotic band sequence amniotic band sequence Amniotic band sequence Orphanet:295000 Amniotic band syndrome OMIM:217100 updated amniotic band sequence Orphanet:295000 Orphanet -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita amyoplasia congenita Amyoplasia congenita Orphanet:488586 Congenital amyoplasia Orphanet:1037 updated amyoplasia congenita Orphanet:488586 Orphanet -MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia congenital amyoplasia Congenital amyoplasia Orphanet:488586 Congenital amyoplasia Orphanet:1037 updated congenital amyoplasia Orphanet:488586 Orphanet -MONDO:0015177 metaphyseal anadysplasia oio:hasExactSynonym oio:hasRelatedSynonym MAD Orphanet:2457 Mandibuloacral dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0003562 updated MAD Orphanet:2457 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome oio:hasExactSynonym oio:hasRelatedSynonym ankyloblepharon filiforme adnatum-imperforate anus syndrome ankyloblepharon filiforme adnatum-imperforate anus syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 updated ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074 Orphanet MONDO:0015237 arrhinia oio:hasExactSynonym oio:hasRelatedSynonym isolated arrhinia isolated arrhinia Isolated arrhinia Orphanet:1134 Isolated arrhinia Orphanet:1134 updated isolated arrhinia Orphanet:1134 Orphanet MONDO:0015241 arthrogryposis-like syndrome oio:hasExactSynonym oio:hasRelatedSynonym Kuskokwim syndrome Orphanet:1149 Kuskokwim syndrome GARD:0003150 updated Kuskokwim syndrome Orphanet:1149 Orphanet -MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym oio:hasRelatedSynonym constrictive bronchiolitis constrictive bronchiolitis Constrictive bronchiolitis Orphanet:1303 Bronchiolitis obliterans GARD:0005961 updated constrictive bronchiolitis Orphanet:1303 Orphanet MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym bronchiolitis obliterans bronchiolitis obliterans Bronchiolitis obliterans Orphanet:1303 Bronchiolitis obliterans MONDO:ambiguous updated bronchiolitis obliterans Orphanet:1303 Orphanet MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis obliterative bronchiolitis Obliterative bronchiolitis Orphanet:1303 Bronchiolitis obliterans Orphanet:1303, DOID:2799 updated obliterative bronchiolitis Orphanet:1303 Orphanet MONDO:0015275 partial atrioventricular canal oio:hasExactSynonym oio:hasRelatedSynonym partial AVSD partial AVSD Partial AVSD Orphanet:1330 Partial atrioventricular septal defect GARD:0004229 updated partial AVSD Orphanet:1330 Orphanet MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym PLCA Orphanet:137807 Primary cutaneous amyloidosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:137807 updated PLCA Orphanet:137807 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0015301 primary cutaneous amyloidosis oio:hasExactSynonym oio:hasNarrowSynonym familial primary localized cutaneous amyloidosis familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis Orphanet:353220 Familial primary localized cutaneous amyloidosis DOID:0050639 updated familial primary localized cutaneous amyloidosis Orphanet:353220 Orphanet MONDO:0015387 nasolacrimal duct cyst oio:hasExactSynonym oio:hasRelatedSynonym dacryocystocele dacryocystocele Dacryocystocele Orphanet:141083 Nasolacrimal duct cyst Orphanet:141083 updated dacryocystocele Orphanet:141083 Orphanet MONDO:0015430 ring chromosome 1 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 1 syndrome Orphanet:1437 Ring chromosome 1 syndrome Orphanet:1437 updated Ring chromosome 1 syndrome Orphanet:1437 Orphanet MONDO:0015431 ring chromosome 10 oio:hasExactSynonym oio:hasRelatedSynonym Ring 10 Orphanet:1438 Ring chromosome 10 syndrome GARD:0001322 updated Ring 10 Orphanet:1438 Orphanet @@ -111873,34 +108528,26 @@ MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym MONDO:0015448 mitochondrial complex III deficiency oio:hasExactSynonym oio:hasRelatedSynonym isolated complex III deficiency isolated complex III deficiency Isolated complex III deficiency Orphanet:1460 Isolated complex III deficiency Orphanet:1460 updated isolated complex III deficiency Orphanet:1460 Orphanet MONDO:0015463 craniodigital syndrome-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym craniodigital-intellectual disability syndrome craniodigital-intellectual disability syndrome Craniodigital-intellectual disability syndrome Orphanet:1514 Craniodigital-intellectual disability syndrome Orphanet:1514 updated craniodigital-intellectual disability syndrome Orphanet:1514 Orphanet MONDO:0015487 fatal infantile encephalocardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym fatal infantile cytochrome C oxidase deficiency fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency Orphanet:1561 updated fatal infantile cytochrome C oxidase deficiency Orphanet:1561 Orphanet -MONDO:0015540 hemophagocytic syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis Orphanet:540 Familial hemophagocytic lymphohistiocytosis GARD:0006589 updated familial hemophagocytic lymphohistiocytosis Orphanet:540 Orphanet MONDO:0015610 acquired aplastic anemia oio:hasExactSynonym oio:hasRelatedSynonym rare acquired aplastic anemia rare acquired aplastic anemia Rare acquired aplastic anemia Orphanet:164823 Rare acquired aplastic anemia Orphanet:164823 updated rare acquired aplastic anemia Orphanet:164823 Orphanet -MONDO:0015611 neutral lipid storage disease oio:hasExactSynonym oio:hasNarrowSynonym Chanarin-Dorfman syndrome Orphanet:98907 Neutral lipid storage disease with ichthyosis DOID:0050729 updated Chanarin-Dorfman syndrome Orphanet:98907 Orphanet MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym oio:hasRelatedSynonym Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Orphanet:166 updated Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Orphanet:166 Orphanet MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep oio:hasExactSynonym oio:hasRelatedSynonym benign infantile focal epilepsy with midline spikes and waves during sleep benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 updated benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 Orphanet MONDO:0015645 eating seizures oio:hasExactSynonym oio:hasRelatedSynonym eating reflex epilepsy eating reflex epilepsy Eating reflex epilepsy Orphanet:166418 Eating reflex epilepsy Orphanet:166418 updated eating reflex epilepsy Orphanet:166418 Orphanet -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym lichen myxedematosus lichen myxedematosus Lichen myxedematosus Orphanet:402007 Lichen myxedematosus MESH:D053718 updated lichen myxedematosus Orphanet:402007 Orphanet -MONDO:0015665 scleromyxedema oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus MESH:D053718 updated papular mucinosis Orphanet:86795 Orphanet -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym oio:hasBroadSynonym acute myeloid leukemia acute myeloid leukemia Acute myeloid leukemia Orphanet:519 Acute myeloid leukemia NCIT:C27753 updated acute myeloid leukemia Orphanet:519 Orphanet MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 updated myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 Orphanet MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRB rearrangement myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 updated myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Orphanet:168950 Orphanet MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 14 Orphanet:1703 Mosaic trisomy 14 GARD:0001327 updated Mosaic trisomy chromosome 14 Orphanet:1703 Orphanet MONDO:0015725 mosaic trisomy 14 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 14 mosaicism trisomy 14 mosaicism Trisomy 14 mosaicism Orphanet:1703 Mosaic trisomy 14 GARD:0001327 updated trisomy 14 mosaicism Orphanet:1703 Orphanet MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 7 Orphanet:1747 Mosaic trisomy 7 GARD:0005354 updated Mosaic trisomy chromosome 7 Orphanet:1747 Orphanet MONDO:0015771 mosaic trisomy 7 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 7 mosaicism trisomy 7 mosaicism Trisomy 7 mosaicism Orphanet:1747 Mosaic trisomy 7 GARD:0005354 updated trisomy 7 mosaicism Orphanet:1747 Orphanet -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome Orphanet:3322 Hoyeraal-Hreidarsson syndrome GARD:0010905 updated Hoyeraal-Hreidarsson syndrome Orphanet:3322 Orphanet MONDO:0015830 partial bilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym partial bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the Müllerian ducts Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts Orphanet:180068 updated partial bilateral aplasia of the Müllerian ducts Orphanet:180068 Orphanet MONDO:0015831 unilateral aplasia of the mullerian ducts oio:hasExactSynonym oio:hasRelatedSynonym unilateral aplasia of the Müllerian ducts unilateral aplasia of the Müllerian ducts Unilateral aplasia of the Müllerian ducts Orphanet:180071 Unilateral aplasia of the Müllerian ducts Orphanet:180071 updated unilateral aplasia of the Müllerian ducts Orphanet:180071 Orphanet MONDO:0015867 vaginal carcinoma oio:hasExactSynonym oio:hasBroadSynonym vaginal malignant epithelial tumor vaginal malignant epithelial tumor Vaginal malignant epithelial tumor Orphanet:180247 Vaginal carcinoma Orphanet:180247 updated vaginal malignant epithelial tumor Orphanet:180247 Orphanet MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym Paget disease of the breast Orphanet:180275 Paget disease of the nipple Orphanet:180275 updated Paget disease of the breast Orphanet:180275 Orphanet MONDO:0015873 Paget disease of the nipple oio:hasExactSynonym oio:hasBroadSynonym mammary Paget disease mammary Paget disease Mammary Paget disease Orphanet:180275 Paget disease of the nipple Orphanet:180275 updated mammary Paget disease Orphanet:180275 Orphanet -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia Orphanet:418 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia updated congenital adrenal hyperplasia Orphanet:418 Orphanet MONDO:0015905 syndromic dyslipidemia oio:hasExactSynonym oio:hasRelatedSynonym rare syndromic dyslipidemia rare syndromic dyslipidemia Rare syndromic dyslipidemia Orphanet:181437 Rare syndromic dyslipidemia Orphanet:181437 updated rare syndromic dyslipidemia Orphanet:181437 Orphanet MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogenodermatosis photogenodermatosis Photogenodermatosis Orphanet:183490 Genetic photodermatosis Orphanet:183490 updated photogenodermatosis Orphanet:183490 Orphanet MONDO:0015951 hereditary photodermatosis oio:hasExactSynonym oio:hasBroadSynonym photogénodermatose photogénodermatose Photogénodermatose Orphanet:183490 Genetic photodermatosis Orphanet:183490 updated photogénodermatose Orphanet:183490 Orphanet MONDO:0015962 inherited renal tubular disease oio:hasExactSynonym oio:hasRelatedSynonym genetic renal tubular disease genetic renal tubular disease Genetic renal tubular disease Orphanet:183592 Genetic renal tubular disease Orphanet:183592 updated genetic renal tubular disease Orphanet:183592 Orphanet MONDO:0015986 bilateral renal agenesis oio:hasExactSynonym oio:hasRelatedSynonym renal agenesis, bilateral renal agenesis, bilateral Renal agenesis, bilateral Orphanet:1848 Renal agenesis, bilateral Orphanet:1848 updated renal agenesis, bilateral Orphanet:1848 Orphanet -MONDO:0015991 citrullinemia oio:hasExactSynonym oio:hasNarrowSynonym ass deficiency ass deficiency ASS deficiency Orphanet:247525 Citrullinemia type I DOID:9273 updated ass deficiency Orphanet:247525 Orphanet MONDO:0015993 cone-rod dystrophy oio:hasExactSynonym oio:hasRelatedSynonym cone rod dystrophy cone rod dystrophy Cone rod dystrophy Orphanet:1872 Cone rod dystrophy Orphanet:1872 updated cone rod dystrophy Orphanet:1872 Orphanet MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym EDS VIA Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 updated EDS VIA Orphanet:1900 Orphanet MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 oio:hasExactSynonym oio:hasNarrowSynonym Ehlers-Danlos syndrome type 6A Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Orphanet:1900 updated Ehlers-Danlos syndrome type 6A Orphanet:1900 Orphanet @@ -111915,16 +108562,12 @@ MONDO:0016038 calcified aponeurotic fibroma oio:hasExactSynonym oio:hasRelatedSy MONDO:0016094 vaginal germ cell malignant tumor oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the vagina malignant germ cell tumor of the vagina Malignant germ cell tumor of the vagina Orphanet:206489 Malignant germ cell tumor of the vagina Orphanet:206489 updated malignant germ cell tumor of the vagina Orphanet:206489 Orphanet MONDO:0016095 vaginal rhabdomyosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vulvovaginal rhabdomyosarcoma vulvovaginal rhabdomyosarcoma Vulvovaginal rhabdomyosarcoma Orphanet:206492 Vulvovaginal rhabdomyosarcoma Orphanet:206492 updated vulvovaginal rhabdomyosarcoma Orphanet:206492 Orphanet MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease Orphanet:206575 Rippling muscle disease with myasthenia gravis Orphanet:206575 updated acquired rippling muscle disease Orphanet:206575 Orphanet -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan oio:hasExactSynonym oio:hasNarrowSynonym gamma-sarcoglycanopathy gamma-sarcoglycanopathy Gamma-sarcoglycanopathy Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORCID:0000-0002-6601-2165 updated gamma-sarcoglycanopathy Orphanet:353 Orphanet MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:208650 NLRP3-associated autoinflammatory disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 updated CAPS Orphanet:208650 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016168 cryopyrin-associated periodic syndrome oio:hasExactSynonym oio:hasBroadSynonym CAPS caps CAPS Orphanet:464343 Catastrophic antiphospholipid syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:208650 updated CAPS Orphanet:464343 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016207 phacoanaphylactic uveitis oio:hasExactSynonym oio:hasRelatedSynonym lens-induced iridocyclitis lens-induced iridocyclitis Lens-induced iridocyclitis Orphanet:209959 Phacoanaphylactic uveitis Orphanet:209959 updated lens-induced iridocyclitis Orphanet:209959 Orphanet MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym benign nocturnal alternating hemiplegia of childhood benign nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood Orphanet:209973 updated benign nocturnal alternating hemiplegia of childhood Orphanet:209973 Orphanet MONDO:0016215 spastic quadriplegic cerebral palsy oio:hasExactSynonym oio:hasRelatedSynonym inherited congenital spastic tetraplegia inherited congenital spastic tetraplegia Inherited congenital spastic tetraplegia Orphanet:210141 Inherited congenital spastic tetraplegia Orphanet:210141 updated inherited congenital spastic tetraplegia Orphanet:210141 Orphanet MONDO:0016217 mal de Debarquement oio:hasExactSynonym oio:hasRelatedSynonym Mal de débarquement Orphanet:210272 Mal de débarquement Orphanet:210272 updated Mal de débarquement Orphanet:210272 Orphanet -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome Orphanet:84142 Isaacs syndrome DOID:963 updated Isaacs syndrome Orphanet:84142 Orphanet MONDO:0016231 capillary malformation oio:hasExactSynonym oio:hasRelatedSynonym rare capillary malformation rare capillary malformation Rare capillary malformation Orphanet:211247 Rare capillary malformation Orphanet:211247 updated rare capillary malformation Orphanet:211247 Orphanet -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia Orphanet:209978 Alternating hemiplegia GARD:0000011 updated alternating hemiplegia Orphanet:209978 Orphanet MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasRelatedSynonym malignant mixed epithelial and mesenchymal tumor of corpus uteri malignant mixed epithelial and mesenchymal tumor of corpus uteri Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 updated malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 Orphanet MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm oio:hasExactSynonym oio:hasNarrowSynonym mixed epithelial and mesenchymal cancer of corpus uteri mixed epithelial and mesenchymal cancer of corpus uteri Mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Orphanet:213589 updated mixed epithelial and mesenchymal cancer of corpus uteri Orphanet:213589 Orphanet MONDO:0016258 uterine corpus carcinofibroma oio:hasExactSynonym oio:hasRelatedSynonym Carcinofibroma of the corpus uteri Orphanet:213605 Carcinofibroma of the corpus uteri Orphanet:213605 updated Carcinofibroma of the corpus uteri Orphanet:213605 Orphanet @@ -111936,9 +108579,7 @@ MONDO:0016267 undifferentiated carcinoma of the corpus uteri oio:hasExactSynonym MONDO:0016272 transitional cell carcinoma of the corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym endometrial transitional cell carcinoma endometrial transitional cell carcinoma Endometrial transitional cell carcinoma Orphanet:213746 Transitional cell carcinoma of the corpus uteri Orphanet:213746 updated endometrial transitional cell carcinoma Orphanet:213746 Orphanet MONDO:0016273 malignant germ cell tumor of corpus uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the corpus uteri malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the corpus uteri Orphanet:213751 Malignant germ cell tumor of the corpus uteri Orphanet:213751 updated malignant germ cell tumor of the corpus uteri Orphanet:213751 Orphanet MONDO:0016289 malignant germ cell tumor of cervix uteri oio:hasExactSynonym oio:hasRelatedSynonym malignant germ cell tumor of the cervix uteri malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the cervix uteri Orphanet:213837 Malignant germ cell tumor of the cervix uteri Orphanet:213837 updated malignant germ cell tumor of the cervix uteri Orphanet:213837 Orphanet -MONDO:0016333 familial dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0000221 updated DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis Orphanet:221 Dermatomyositis Orphanet:221, GARD:0006263 updated adult dermatomyositis Orphanet:221 Orphanet -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis Orphanet:645617 Amyopathic dermatomyositis DOID:10223, MESH:C538250 updated Amyopathic dermatomyositis Orphanet:645617 Orphanet MONDO:0016370 Marchiafava-Bignami disease oio:hasExactSynonym oio:hasRelatedSynonym MBD Orphanet:221074 Marchiafava-Bignami disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0006971 updated MBD Orphanet:221074 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016374 cranial neuralgia oio:hasExactSynonym oio:hasNarrowSynonym facial neuralgia facial neuralgia Facial neuralgia Orphanet:221109 Cranial neuralgia Orphanet:221109 updated facial neuralgia Orphanet:221109 Orphanet MONDO:0016430 Balo concentric sclerosis oio:hasExactSynonym oio:hasRelatedSynonym Baló concentric sclerosis Orphanet:228165 Baló concentric sclerosis GARD:0005885 updated Baló concentric sclerosis Orphanet:228165 Orphanet @@ -111948,18 +108589,13 @@ MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSyno MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym pharyngeal-cervical-brachial variant of Guillain-Barré syndrome pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 updated pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Orphanet:231426 Orphanet MONDO:0016497 paraparetic variant of Guillain-Barre syndrome oio:hasExactSynonym oio:hasRelatedSynonym paraparetic variant of Guillain-Barré syndrome paraparetic variant of Guillain-Barré syndrome Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome Orphanet:231445 updated paraparetic variant of Guillain-Barré syndrome Orphanet:231445 Orphanet MONDO:0016505 aldosterone-producing adrenal cortex adenoma oio:hasExactSynonym oio:hasRelatedSynonym adrenocortical carcinoma with pure aldosterone hypersecretion adrenocortical carcinoma with pure aldosterone hypersecretion Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 updated adrenocortical carcinoma with pure aldosterone hypersecretion Orphanet:231625 Orphanet -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hoffman syndrome Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Orphanet:2349 updated Hoffman syndrome Orphanet:567502 Orphanet MONDO:0016528 limb body wall complex oio:hasExactSynonym oio:hasRelatedSynonym body stalk anomaly body stalk anomaly Body stalk anomaly Orphanet:2369 Limb body wall complex GARD:0003251 updated body stalk anomaly Orphanet:2369 Orphanet MONDO:0016576 split hand-foot malformation oio:hasExactSynonym oio:hasRelatedSynonym isolated split hand-split foot malformation isolated split hand-split foot malformation Isolated split hand-split foot malformation Orphanet:2440 Isolated split hand-split foot malformation Orphanet:2440 updated isolated split hand-split foot malformation Orphanet:2440 Orphanet -MONDO:0016581 conotruncal heart malformations oio:hasExactSynonym oio:hasRelatedSynonym conotruncal anomaly face syndrome conotruncal anomaly face syndrome Conotruncal anomaly face syndrome Orphanet:567 22q11.2 deletion syndrome OMIM:217095 updated conotruncal anomaly face syndrome Orphanet:567 Orphanet -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis Orphanet:98850 Aggressive systemic mastocytosis GARD:0008616 updated Aggressive systemic mastocytosis Orphanet:98850 Orphanet MONDO:0016639 lower limb deficiency-hypospadias syndrome oio:hasExactSynonym oio:hasRelatedSynonym lower limb malformation-hypospadias syndrome lower limb malformation-hypospadias syndrome Lower limb malformation-hypospadias syndrome Orphanet:2487 Lower limb malformation-hypospadias syndrome Orphanet:2487 updated lower limb malformation-hypospadias syndrome Orphanet:2487 Orphanet MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring 5 Orphanet:251043 Ring chromosome 5 syndrome GARD:0010841 updated Ring 5 Orphanet:251043 Orphanet MONDO:0016654 ring chromosome 5 oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome 5 syndrome Orphanet:251043 Ring chromosome 5 syndrome Orphanet:251043 updated Ring chromosome 5 syndrome Orphanet:251043 Orphanet MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym oio:hasBroadSynonym true microcephaly true microcephaly True microcephaly Orphanet:2512 Autosomal recessive primary microcephaly Orphanet:2512 updated true microcephaly Orphanet:2512 Orphanet MONDO:0016680 high grade astrocytic tumor oio:hasExactSynonym oio:hasRelatedSynonym high-grade astrocytoma high-grade astrocytoma High-grade astrocytoma Orphanet:251561 High-grade astrocytoma Orphanet:251561 updated high-grade astrocytoma Orphanet:251561 Orphanet -MONDO:0016692 pilomyxoid astrocytoma oio:hasExactSynonym oio:hasRelatedSynonym PMA Orphanet:454706 Progressive muscular atrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:PMA updated PMA Orphanet:454706 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0016695 oligodendroglioma oio:hasExactSynonym oio:hasBroadSynonym oligodendroglial tumor oligodendroglial tumor Oligodendroglial tumor Orphanet:46484 Oligodendroglial tumor DOID:3181, NCIT:C6960 updated oligodendroglial tumor Orphanet:46484 Orphanet MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym CNS PNET Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 updated CNS PNET Orphanet:251870 Orphanet MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym oio:hasRelatedSynonym central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor Central nervous system primitive neuroectodermal tumor Orphanet:251870 Central nervous system embryonal tumor Orphanet:251870 updated central nervous system primitive neuroectodermal tumor Orphanet:251870 Orphanet MONDO:0016745 diffuse leptomeningeal melanocytosis oio:hasExactSynonym oio:hasBroadSynonym leptomeningeal melanomatosis leptomeningeal melanomatosis Leptomeningeal melanomatosis Orphanet:252031 Diffuse leptomeningeal melanocytosis Orphanet:252031 updated leptomeningeal melanomatosis Orphanet:252031 Orphanet @@ -111969,24 +108605,14 @@ MONDO:0016750 microcephaly-cleft palate syndrome oio:hasExactSynonym oio:hasRela MONDO:0016814 maternally-inherited Leigh syndrome oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial DNA-associated Leigh syndrome mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-associated Leigh syndrome Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome GARD:0003671 updated mitochondrial DNA-associated Leigh syndrome Orphanet:255210 Orphanet MONDO:0016828 autosomal recessive sideroblastic anemia oio:hasExactSynonym oio:hasBroadSynonym congenital sideroblastic anemia congenital sideroblastic anemia Congenital sideroblastic anemia Orphanet:260305 Autosomal recessive sideroblastic anemia Orphanet:260305 updated congenital sideroblastic anemia Orphanet:260305 Orphanet MONDO:0016853 ring chromosome Y oio:hasExactSynonym oio:hasRelatedSynonym Ring chromosome Y syndrome Orphanet:261529 Ring chromosome Y syndrome Orphanet:261529 updated Ring chromosome Y syndrome Orphanet:261529 Orphanet -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym Alagille-Watson syndrome Orphanet:52 Alagille syndrome OMIM:118450 updated Alagille-Watson syndrome Orphanet:52 Orphanet -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation oio:hasExactSynonym oio:hasRelatedSynonym arteriohepatic dysplasia arteriohepatic dysplasia Arteriohepatic dysplasia Orphanet:52 Alagille syndrome OMIM:118450 updated arteriohepatic dysplasia Orphanet:52 Orphanet -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym Duplication 8p Orphanet:264450 Trisomy 8p GARD:0005361 updated Duplication 8p Orphanet:264450 Orphanet -MONDO:0016945 partial duplication of the short arm of chromosome 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8p trisomy 8p Trisomy 8p Orphanet:264450 Trisomy 8p GARD:0005361 updated trisomy 8p Orphanet:264450 Orphanet MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oio:hasExactSynonym oio:hasRelatedSynonym infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 updated infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410 Orphanet MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III oio:hasExactSynonym oio:hasNarrowSynonym Taybi-Linder syndrome Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III Orphanet:2636 updated Taybi-Linder syndrome Orphanet:2636 Orphanet -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida Orphanet:268369 Open spinal dysraphism MESH:D016137 updated open spina bifida Orphanet:268369 Orphanet -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta Orphanet:268369 Open spinal dysraphism MESH:D016137 updated spina bifida aperta Orphanet:268369 Orphanet -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele Orphanet:93969 Open spinal dysraphism with a myelomeningocele NCIT:C101201 updated myelomeningocele Orphanet:93969 Orphanet MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial meningocele Orphanet:268820 Cranial meningocele Orphanet:268820 updated cranial meningocele Orphanet:268820 Orphanet MONDO:0017138 Opitz G/BBB syndrome oio:hasExactSynonym oio:hasRelatedSynonym Opitz BBBG syndrome Orphanet:2745 Opitz GBBB syndrome GARD:0000193 updated Opitz BBBG syndrome Orphanet:2745 Orphanet MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome oio:hasExactSynonym oio:hasRelatedSynonym imperforate oropharynx-costovertebral anomalies syndrome imperforate oropharynx-costovertebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 updated imperforate oropharynx-costovertebral anomalies syndrome Orphanet:2759 Orphanet -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasNarrowSynonym familial osteochondritis dissecans familial osteochondritis dissecans Familial osteochondritis dissecans Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 updated familial osteochondritis dissecans Orphanet:251262 Orphanet -MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym oio:hasRelatedSynonym osteochondritis dissecans and short stature osteochondritis dissecans and short stature Osteochondritis dissecans and short stature Orphanet:251262 Familial osteochondritis dissecans Orphanet:251262 updated osteochondritis dissecans and short stature Orphanet:251262 Orphanet MONDO:0017198 osteopetrosis oio:hasExactSynonym oio:hasRelatedSynonym osteopetrosis and related disorders osteopetrosis and related disorders Osteopetrosis and related disorders Orphanet:2781 Osteopetrosis and related disorders Orphanet:2781 updated osteopetrosis and related disorders Orphanet:2781 Orphanet MONDO:0017267 self-healing collodion baby oio:hasExactSynonym oio:hasRelatedSynonym self-improving collodion baby self-improving collodion baby Self-improving collodion baby Orphanet:281122 Self-improving collodion baby Orphanet:281122 updated self-improving collodion baby Orphanet:281122 Orphanet MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection echinococcus multilocularis infection Echinococcus multilocularis infection Orphanet:284 Alveolar echinococcosis DOID:12148 updated echinococcus multilocularis infection Orphanet:284 Orphanet -MONDO:0017304 ocular albinism oio:hasExactSynonym oio:hasNarrowSynonym XLOA Orphanet:54 X-linked recessive ocular albinism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:54 updated XLOA Orphanet:54 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vEDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 updated vEDS Orphanet:286 Orphanet MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular EDS vascular EDS Vascular EDS Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 updated vascular EDS Orphanet:286 Orphanet MONDO:0017314 Ehlers-Danlos syndrome, vascular type oio:hasExactSynonym oio:hasRelatedSynonym vascular Ehlers-Danlos syndrome vascular Ehlers-Danlos syndrome Vascular Ehlers-Danlos syndrome Orphanet:286 Vascular Ehlers-Danlos syndrome GARD:0002082 updated vascular Ehlers-Danlos syndrome Orphanet:286 Orphanet @@ -111995,28 +108621,21 @@ MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism oio:hasExac MONDO:0017362 neuralgic amyotrophy oio:hasExactSynonym oio:hasBroadSynonym brachial plexus neuritis brachial plexus neuritis Brachial plexus neuritis Orphanet:2901 Neuralgic amyotrophy Orphanet:2901 updated brachial plexus neuritis Orphanet:2901 Orphanet MONDO:0017363 idiopathic chronic eosinophilic pneumonia oio:hasExactSynonym oio:hasBroadSynonym chronic eosinophilic pneumonia chronic eosinophilic pneumonia Chronic eosinophilic pneumonia Orphanet:2902 Idiopathic chronic eosinophilic pneumonia Orphanet:2902 updated chronic eosinophilic pneumonia Orphanet:2902 Orphanet MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:293181 Malignant migrating focal seizures of infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 updated MPSI Orphanet:293181 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym oio:hasBroadSynonym MPSI Orphanet:579 Mucopolysaccharidosis type 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:293181 updated MPSI Orphanet:579 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome oio:hasExactSynonym oio:hasRelatedSynonym hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 updated hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Orphanet:293864 Orphanet MONDO:0017456 central polydactyly of fingers oio:hasExactSynonym oio:hasRelatedSynonym central polydactyly central polydactyly Central polydactyly Orphanet:295004 Central polydactyly Orphanet:295004 updated central polydactyly Orphanet:295004 Orphanet MONDO:0017469 congenital elbow dislocation oio:hasExactSynonym oio:hasRelatedSynonym isolated congenital radial head dislocation isolated congenital radial head dislocation Isolated congenital radial head dislocation Orphanet:295032 Isolated congenital radial head dislocation Orphanet:295032 updated isolated congenital radial head dislocation Orphanet:295032 Orphanet MONDO:0017569 de Barsy syndrome oio:hasExactSynonym oio:hasRelatedSynonym progeroid syndrome, de Barsy type progeroid syndrome, de Barsy type Progeroid syndrome, De Barsy type Orphanet:2962 De Barsy syndrome GARD:0000049 updated progeroid syndrome, de Barsy type Orphanet:2962 Orphanet MONDO:0017570 leukocyte adhesion deficiency oio:hasExactSynonym oio:hasBroadSynonym LAD Orphanet:2968 Leukocyte adhesion deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:2968 updated LAD Orphanet:2968 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy oio:hasExactSynonym oio:hasRelatedSynonym oculogastrointestinal muscular dystrophy oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy Orphanet:1876 Oculogastrointestinal muscular dystrophy GARD:0009920 updated oculogastrointestinal muscular dystrophy Orphanet:1876 Orphanet MONDO:0017588 nail tumor oio:hasExactSynonym oio:hasRelatedSynonym rare nail tumor rare nail tumor Rare nail tumor Orphanet:300515 Rare nail tumor Orphanet:300515 updated rare nail tumor Orphanet:300515 Orphanet MONDO:0017617 acquired adult-onset immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies GARD:0011992 updated adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies Orphanet:306431 Orphanet MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome oio:hasExactSynonym oio:hasRelatedSynonym Stoll-Géraudel-Chauvin syndrome Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome GARD:0003514 updated Stoll-Géraudel-Chauvin syndrome Orphanet:3074 Orphanet MONDO:0017686 inborn aminoacylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym aminoacylase deficiency aminoacylase deficiency Aminoacylase deficiency Orphanet:308448 Aminoacylase deficiency Orphanet:308448 updated aminoacylase deficiency Orphanet:308448 Orphanet -MONDO:0017705 congenital pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome Orphanet:185 Scimitar syndrome GARD:0004599 updated scimitar syndrome Orphanet:185 Orphanet MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation oio:hasExactSynonym oio:hasRelatedSynonym disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 updated disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 Orphanet MONDO:0017764 disorder of zinc metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of zinc metabolism and transport disorder of zinc metabolism and transport Disorder of zinc metabolism and transport Orphanet:309845 Disorder of zinc metabolism and transport Orphanet:309845 updated disorder of zinc metabolism and transport Orphanet:309845 Orphanet MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome oio:hasExactSynonym oio:hasRelatedSynonym Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 updated Mayer-Rokitansky-Küster-Hauser syndrome Orphanet:3109 Orphanet -MONDO:0017795 ameloblastoma oio:hasExactSynonym oio:hasRelatedSynonym adamantinoma adamantinoma Adamantinoma Orphanet:55881 Adamantinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED Wikipedia:Adamantinoma updated adamantinoma Orphanet:55881 Orphanet MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma neurofibrosarcoma Neurofibrosarcoma Orphanet:3148 Malignant peripheral nerve sheath tumor NCIT:C3798, Orphanet:3148 updated neurofibrosarcoma Orphanet:3148 Orphanet MONDO:0017836 erythrokeratoderma en cocardes oio:hasExactSynonym oio:hasRelatedSynonym erythrokeratoderma ''en cocardes'' erythrokeratoderma ''en cocardes'' Erythrokeratoderma ''en cocardes'' Orphanet:315 Erythrokeratoderma ''en cocardes'' Orphanet:315 updated erythrokeratoderma ''en cocardes'' Orphanet:315 Orphanet -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis extremitatum hereditaria progrediens keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096 updated keratosis extremitatum hereditaria progrediens Orphanet:495 Orphanet -MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris transgrediens et progrediens keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens et progrediens Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma GARD:0003096, MESH:C536154, OMIM:133200 updated keratosis palmoplantaris transgrediens et progrediens Orphanet:495 Orphanet MONDO:0017858 acute erythroid leukemia oio:hasExactSynonym oio:hasRelatedSynonym Erythroleukemia Orphanet:318 Acute erythroid leukemia Orphanet:318 updated Erythroleukemia Orphanet:318 Orphanet -MONDO:0017865 congenital pulmonary valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular pulmonary stenosis valvular pulmonary stenosis Valvular pulmonary stenosis Orphanet:99054 Valvular pulmonary stenosis GARD:0004596 updated valvular pulmonary stenosis Orphanet:99054 Orphanet MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey disease monkey disease Monkey disease Orphanet:319254 Kyasanur forest disease Orphanet:319254 updated monkey disease Orphanet:319254 Orphanet MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym oio:hasRelatedSynonym monkey fever monkey fever Monkey fever Orphanet:319254 Kyasanur forest disease Orphanet:319254 updated monkey fever Orphanet:319254 Orphanet MONDO:0017919 exstrophy-epispadias complex oio:hasExactSynonym oio:hasNarrowSynonym bladder exstrophy-epispadias-cloacal extrophy complex bladder exstrophy-epispadias-cloacal extrophy complex Bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 Exstrophy-epispadias complex Orphanet:322 updated bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 Orphanet @@ -112031,63 +108650,39 @@ MONDO:0018078 soft tissue sarcoma oio:hasExactSynonym oio:hasBroadSynonym malign MONDO:0018097 West syndrome oio:hasExactSynonym oio:hasRelatedSynonym Infantile spasms syndrome Orphanet:3451 Infantile spasms syndrome DOID:0050562 updated Infantile spasms syndrome Orphanet:3451 Orphanet MONDO:0018141 pyruvate carboxylase deficiency, infantile form oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency, infantile type pyruvate carboxylase deficiency, infantile type Pyruvate carboxylase deficiency, infantile type Orphanet:353308 Pyruvate carboxylase deficiency, infantile type Orphanet:353308 updated pyruvate carboxylase deficiency, infantile type Orphanet:353308 Orphanet MONDO:0018148 vasoproliferative tumor of retina oio:hasExactSynonym oio:hasRelatedSynonym vasoproliferative tumor of the retina vasoproliferative tumor of the retina Vasoproliferative tumor of the retina Orphanet:353356 Vasoproliferative tumor of the retina Orphanet:353356 updated vasoproliferative tumor of the retina Orphanet:353356 Orphanet -MONDO:0018215 paraneoplastic neurologic syndrome oio:hasExactSynonym oio:hasNarrowSynonym paraneoplastic cerebellar degeneration paraneoplastic cerebellar degeneration Paraneoplastic cerebellar degeneration Orphanet:623626 Paraneoplastic cerebellar degeneration Orphanet:36388 updated paraneoplastic cerebellar degeneration Orphanet:623626 Orphanet -MONDO:0018229 Stevens-Johnson syndrome oio:hasExactSynonym oio:hasRelatedSynonym erythema multiforme major erythema multiforme major Erythema multiforme major Orphanet:502499 Erythema multiforme major NCIT:C79484 updated erythema multiforme major Orphanet:502499 Orphanet MONDO:0018276 muscular dystrophy-dystroglycanopathy oio:hasExactSynonym oio:hasRelatedSynonym congenital muscular dystrophy due to dystroglycanopathy congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 updated congenital muscular dystrophy due to dystroglycanopathy Orphanet:370953 Orphanet MONDO:0018308 liver mesenchymal hamartoma oio:hasExactSynonym oio:hasRelatedSynonym hepatic cystic hamartoma hepatic cystic hamartoma Hepatic cystic hamartoma Orphanet:386 Hepatic cystic hamartoma Orphanet:386 updated hepatic cystic hamartoma Orphanet:386 Orphanet -MONDO:0018310 Langerhans cell histiocytosis oio:hasExactSynonym oio:hasRelatedSynonym LCH Lch LCH Orphanet:86823 Lissencephaly with cerebellar hypoplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604856 updated LCH Orphanet:86823 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis Orphanet:391504 Transient neonatal myasthenia gravis Orphanet:391504 updated neonatal myasthenia gravis Orphanet:391504 Orphanet MONDO:0018371 nebulin-related early-onset distal myopathy oio:hasExactSynonym oio:hasRelatedSynonym distal nebulin myopathy distal nebulin myopathy Distal nebulin myopathy Orphanet:399103 Distal nebulin myopathy Orphanet:399103 updated distal nebulin myopathy Orphanet:399103 Orphanet MONDO:0018424 inherited lipoic acid biosynthesis defect oio:hasExactSynonym oio:hasRelatedSynonym lipoic acid biosynthesis defect lipoic acid biosynthesis defect Lipoic acid biosynthesis defect Orphanet:401854 Lipoic acid biosynthesis defect Orphanet:401854 updated lipoic acid biosynthesis defect Orphanet:401854 Orphanet -MONDO:0018432 lichen myxedematosus oio:hasExactSynonym oio:hasRelatedSynonym papular mucinosis papular mucinosis Papular mucinosis Orphanet:86795 Localized lichen myxedematosus https://www.dermnetnz.org/topics/lichen-myxoedematosus/ updated papular mucinosis Orphanet:86795 Orphanet MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym oio:hasBroadSynonym melanoma-pancreatic cancer syndrome melanoma-pancreatic cancer syndrome Melanoma-pancreatic cancer syndrome Orphanet:404560 Familial atypical multiple mole melanoma syndrome Orphanet:404560 updated melanoma-pancreatic cancer syndrome Orphanet:404560 Orphanet MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 updated FBH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FBHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 updated FBHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym oio:hasRelatedSynonym FHH Orphanet:405 Familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0060699, Orphanet:405 updated FHH Orphanet:405 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018473 hyperlipoproteinemia type 3 oio:hasExactSynonym oio:hasRelatedSynonym dysbetalipoproteinemia dysbetalipoproteinemia Dysbetalipoproteinemia Orphanet:412 Dysbetalipoproteinemia GARD:0006703 updated dysbetalipoproteinemia Orphanet:412 Orphanet -MONDO:0018477 bilirubin encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym kernicterus spectrum disorder kernicterus spectrum disorder Kernicterus spectrum disorder Orphanet:529808 Chronic bilirubin encephalopathy Orphanet:415286 updated kernicterus spectrum disorder Orphanet:529808 Orphanet -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome adrenogenital syndrome Adrenogenital syndrome Orphanet:181412 Adrenogenital syndrome NCIT:C34360 updated adrenogenital syndrome Orphanet:181412 Orphanet MONDO:0018510 small intestine neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neuroendocrine tumor of the small intestine neuroendocrine tumor of the small intestine Neuroendocrine tumor of the small intestine Orphanet:423975 Neuroendocrine tumor of the small intestine Orphanet:423975 updated neuroendocrine tumor of the small intestine Orphanet:423975 Orphanet MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym mucinous cystadenocarcinoma of the pancreas mucinous cystadenocarcinoma of the pancreas Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 updated mucinous cystadenocarcinoma of the pancreas Orphanet:424053 Orphanet MONDO:0018523 pancreatic mucinous cystadenoma oio:hasExactSynonym oio:hasRelatedSynonym pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystadenocarcinoma Pancreatic mucinous cystadenocarcinoma Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas Orphanet:424053 updated pancreatic mucinous cystadenocarcinoma Orphanet:424053 Orphanet MONDO:0018525 solid pseudopapillary carcinoma of pancreas oio:hasExactSynonym oio:hasBroadSynonym solid pseudopapillary neoplasm of the pancreas solid pseudopapillary neoplasm of the pancreas Solid pseudopapillary neoplasm of the pancreas Orphanet:424065 Solid pseudopapillary carcinoma of pancreas Orphanet:424065 updated solid pseudopapillary neoplasm of the pancreas Orphanet:424065 Orphanet -MONDO:0018540 PFAPA syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall syndrome Orphanet:560 Marshall syndrome NCIT:C116917 updated Marshall syndrome Orphanet:560 Orphanet -MONDO:0018555 hypogonadotropic hypogonadism oio:hasExactSynonym oio:hasNarrowSynonym isolated congenital gonadotropin deficiency isolated congenital gonadotropin deficiency Isolated congenital gonadotropin deficiency Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism DOID:0090070 updated isolated congenital gonadotropin deficiency Orphanet:238666 Orphanet -MONDO:0018686 acquired Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym sporadic CJD sporadic CJD Sporadic CJD Orphanet:204 Sporadic Creutzfeldt-Jakob disease MESH:C538481 updated sporadic CJD Orphanet:204 Orphanet MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym oio:hasRelatedSynonym isolated tracheoesophageal fistula isolated tracheoesophageal fistula Isolated tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula Orphanet:454750 updated isolated tracheoesophageal fistula Orphanet:454750 Orphanet MONDO:0018740 drug-induced methemoglobinemia oio:hasExactSynonym oio:hasBroadSynonym acquired methemoglobinemia acquired methemoglobinemia Acquired methemoglobinemia Orphanet:464453 Acquired methemoglobinemia MONDO:patterns/acquired, Orphanet:464453 updated acquired methemoglobinemia Orphanet:464453 Orphanet MONDO:0018767 severe primary trimethylaminuria oio:hasExactSynonym oio:hasRelatedSynonym TMAU Orphanet:468726 Severe primary trimethylaminuria http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602079, MONDO:Lexical updated TMAU Orphanet:468726 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria Orphanet:47045 Familial cold urticaria Orphanet:47045 updated familial cold urticaria Orphanet:47045 Orphanet MONDO:0018828 pseudo-TORCH syndrome 2 oio:hasExactSynonym oio:hasRelatedSynonym USP18 deficiency Orphanet:481665 USP18 deficiency Orphanet:481665 updated USP18 deficiency Orphanet:481665 Orphanet -MONDO:0018830 Kimura disease oio:hasExactSynonym oio:hasRelatedSynonym angiolymphoid hyperplasia with eosinophilia angiolymphoid hyperplasia with eosinophilia Angiolymphoid hyperplasia with eosinophilia Orphanet:675396 Epithelioid hemangioma GARD:0006835 updated angiolymphoid hyperplasia with eosinophilia Orphanet:675396 Orphanet MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym oio:hasBroadSynonym isolated CHF isolated CHF Isolated CHF Orphanet:485426 Isolated congenital hepatic fibrosis http://purl.obolibrary.org/obo/mondo#AMBIGUOUS Orphanet:485426 updated isolated CHF Orphanet:485426 Orphanet -MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym oio:hasRelatedSynonym embryonal carcinoma embryonal carcinoma Embryonal carcinoma Orphanet:180226 Embryonal carcinoma ONCOTREE:BEC updated embryonal carcinoma Orphanet:180226 Orphanet -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym ulerythema ophryogenesis ulerythema ophryogenesis Ulerythema ophryogenesis Orphanet:3406 Ulerythema ophryogenesis MESH:C537412 updated ulerythema ophryogenesis Orphanet:3406 Orphanet MONDO:0018866 Aicardi-Goutieres syndrome oio:hasExactSynonym oio:hasRelatedSynonym Aicardi-Goutières syndrome Orphanet:51 Aicardi-Goutières syndrome Orphanet:51 updated Aicardi-Goutières syndrome Orphanet:51 Orphanet MONDO:0018882 vasculitis oio:hasExactSynonym oio:hasNarrowSynonym systemic vasculitis systemic vasculitis Systemic vasculitis Orphanet:52759 Vasculitis Orphanet:52759 updated systemic vasculitis Orphanet:52759 Orphanet MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalized lipodystrophy congenital generalized lipodystrophy Congenital generalized lipodystrophy Orphanet:528 Congenital generalized lipodystrophy NCIT:C84594 updated congenital generalized lipodystrophy Orphanet:528 Orphanet MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes Orphanet:528 Congenital generalized lipodystrophy Orphanet:528 updated lipoatrophic diabetes Orphanet:528 Orphanet -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym Lawrence-Seip syndrome Orphanet:79086 Acquired generalized lipodystrophy NCIT:C84594 updated Lawrence-Seip syndrome Orphanet:79086 Orphanet MONDO:0018914 hypotrichosis simplex oio:hasExactSynonym oio:hasNarrowSynonym hereditary hypotrichosis simplex hereditary hypotrichosis simplex Hereditary hypotrichosis simplex Orphanet:55654 Hypotrichosis simplex Orphanet:55654 updated hereditary hypotrichosis simplex Orphanet:55654 Orphanet -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia Orphanet:93276 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 updated polyostotic fibrous dysplasia Orphanet:93276 Orphanet MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence Orphanet:567 22q11.2 deletion syndrome Orphanet:567 updated DiGeorge sequence Orphanet:567 Orphanet MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 updated DiGeorge syndrome Orphanet:567 Orphanet MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome Orphanet:567 22q11.2 deletion syndrome Orphanet:567 updated velocardiofacial syndrome Orphanet:567 Orphanet MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym ML 3 Alpha/Beta ML 3 Alpha/Beta ML 3 alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta OMIM:252600 updated ML 3 Alpha/Beta Orphanet:423461 Orphanet MONDO:0018931 mucolipidosis type III, alpha/beta oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type III alpha/beta mucolipidosis type III alpha/beta Mucolipidosis type III alpha/beta Orphanet:423461 Mucolipidosis type III alpha/beta Orphanet:423461 updated mucolipidosis type III alpha/beta Orphanet:423461 Orphanet MONDO:0018935 hairy cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym classic hairy cell leukemia classic hairy cell leukemia Classic hairy cell leukemia Orphanet:58017 Classic hairy cell leukemia Orphanet:58017 updated classic hairy cell leukemia Orphanet:58017 Orphanet -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIA Orphanet:79269 Sanfilippo syndrome type A DOID:12801 updated mucopolysaccharidosis type IIIA Orphanet:79269 Orphanet -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIB Orphanet:79270 Sanfilippo syndrome type B DOID:12801 updated mucopolysaccharidosis type IIIB Orphanet:79270 Orphanet -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 updated galactosamine-6-sulfatase deficiency Orphanet:309297 Orphanet -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVA mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVA Orphanet:309297 Mucopolysaccharidosis type 4A DOID:12804 updated mucopolysaccharidosis type IVA Orphanet:309297 Orphanet -MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB Mucopolysaccharidosis type IVB Orphanet:309310 Mucopolysaccharidosis type 4B DOID:12804 updated mucopolysaccharidosis type IVB Orphanet:309310 Orphanet -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hydatidiform mole hydatidiform mole Hydatidiform mole Orphanet:99927 Hydatidiform mole DOID:3590 updated hydatidiform mole Orphanet:99927 Orphanet -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy Orphanet:99927 Hydatidiform mole NCIT:C3110, DOID:3590 updated molar pregnancy Orphanet:99927 Orphanet MONDO:0018951 distal myopathy with vocal cord weakness oio:hasExactSynonym oio:hasRelatedSynonym vocal cord and pharyngeal distal myopathy vocal cord and pharyngeal distal myopathy Vocal cord and pharyngeal distal myopathy Orphanet:600 Vocal cord and pharyngeal distal myopathy Orphanet:600 updated vocal cord and pharyngeal distal myopathy Orphanet:600 Orphanet -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans Orphanet:99734 Myotonia fluctuans OMIM:608390 updated Myotonia Fluctuans Orphanet:99734 Orphanet -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens Orphanet:99735 Myotonia permanens OMIM:608390 updated Myotonia Permanens Orphanet:99735 Orphanet MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Orphanet:636 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 updated Von Recklinghausen disease Orphanet:636 Orphanet -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome NCIT:C3273 updated neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 Orphanet MONDO:0018993 Charcot-Marie-Tooth disease type 2 oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 updated autosomal dominant Charcot-Marie-Tooth disease type 2 Orphanet:64746 Orphanet MONDO:0018994 Charcot-Marie-Tooth disease type X oio:hasExactSynonym oio:hasRelatedSynonym X-linked Charcot-Marie-Tooth disease Orphanet:64747 X-linked Charcot-Marie-Tooth disease Orphanet:64747 updated X-linked Charcot-Marie-Tooth disease Orphanet:64747 Orphanet MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 oio:hasExactSynonym oio:hasRelatedSynonym SCAR1 Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:64753, OMIM:606002, MONDO:Lexical updated SCAR1 Orphanet:64753 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -112098,16 +108693,12 @@ MONDO:0019052 inborn errors of metabolism oio:hasExactSynonym oio:hasRelatedSyno MONDO:0019060 bone neoplasm oio:hasExactSynonym oio:hasRelatedSynonym rare bone tumor rare bone tumor Rare bone tumor Orphanet:68411 Rare bone tumor Orphanet:68411 updated rare bone tumor Orphanet:68411 Orphanet MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym bile duct cancer bile duct cancer Bile duct cancer Orphanet:70567 Cholangiocarcinoma Orphanet:70567 updated bile duct cancer Orphanet:70567 Orphanet MONDO:0019128 mullerian aplasia oio:hasExactSynonym oio:hasRelatedSynonym Müllerian aplasia Orphanet:73217 Müllerian aplasia Orphanet:73217 updated Müllerian aplasia Orphanet:73217 Orphanet -MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym disorder of porphyrin and heme metabolism disorder of porphyrin and heme metabolism Disorder of porphyrin and heme metabolism Orphanet:309813 Disorder of porphyrin and heme metabolism DOID:13268 updated disorder of porphyrin and heme metabolism Orphanet:309813 Orphanet MONDO:0019142 inherited porphyria oio:hasExactSynonym oio:hasBroadSynonym porphyria porphyria Porphyria Orphanet:738 Porphyria DOID:13268 updated porphyria Orphanet:738 Orphanet MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 updated severe hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 Orphanet MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oio:hasExactSynonym oio:hasRelatedSynonym severe hereditary thrombophilia due to congenital protein C deficiency severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 updated severe hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 Orphanet -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Orphanet:275761 Lysosomal acid lipase deficiency NCIT:C61271 updated lysosomal acid lipase deficiency Orphanet:275761 Orphanet MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym oio:hasBroadSynonym AIS Orphanet:754 Androgen insensitivity syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:300068, Orphanet:754, MONDO:Lexical updated AIS Orphanet:754 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym oio:hasRelatedSynonym Gordon syndrome Orphanet:376 Gordon syndrome NCIT:C123252 updated Gordon syndrome Orphanet:376 Orphanet MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid and other organic acid metabolism disorder of amino acid and other organic acid metabolism Disorder of amino acid and other organic acid metabolism Orphanet:79062 Disorder of amino acid and other organic acid metabolism Orphanet:79062 updated disorder of amino acid and other organic acid metabolism Orphanet:79062 Orphanet MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hereditary inclusion body myopathy type 3 Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome GARD:0009494 updated Hereditary inclusion body myopathy type 3 Orphanet:79091 Orphanet -MONDO:0019202 myxofibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym MFS Orphanet:558 Marfan syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:MFS updated MFS Orphanet:558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym oio:hasRelatedSynonym disorder of carbohydrate metabolism disorder of carbohydrate metabolism Disorder of carbohydrate metabolism Orphanet:79161 Disorder of carbohydrate metabolism Orphanet:79161 updated disorder of carbohydrate metabolism Orphanet:79161 Orphanet MONDO:0019216 inborn disorder of amino acid transport oio:hasExactSynonym oio:hasRelatedSynonym disorder of amino acid absorption and transport disorder of amino acid absorption and transport Disorder of amino acid absorption and transport Orphanet:79166 Disorder of amino acid absorption and transport Orphanet:79166 updated disorder of amino acid absorption and transport Orphanet:79166 Orphanet MONDO:0019218 inborn disorder of bile acid synthesis oio:hasExactSynonym oio:hasRelatedSynonym disorder of bile acid synthesis disorder of bile acid synthesis Disorder of bile acid synthesis Orphanet:79168 Disorder of bile acid synthesis Orphanet:79168 updated disorder of bile acid synthesis Orphanet:79168 Orphanet @@ -112119,7 +108710,6 @@ MONDO:0019229 inborn disorder of ketolysis oio:hasExactSynonym oio:hasBroadSynon MONDO:0019230 inborn disorder of ornithine or proline metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of ornithine or proline metabolism disorder of ornithine or proline metabolism Disorder of ornithine or proline metabolism Orphanet:79185 Disorder of ornithine or proline metabolism Orphanet:79185 updated disorder of ornithine or proline metabolism Orphanet:79185 Orphanet MONDO:0019231 inborn disorder of pentose phosphate metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pentose phosphate metabolism disorder of pentose phosphate metabolism Disorder of pentose phosphate metabolism Orphanet:79186 Disorder of pentose phosphate metabolism Orphanet:79186 updated disorder of pentose phosphate metabolism Orphanet:79186 Orphanet MONDO:0019232 inborn disorder of peptide metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of peptide metabolism disorder of peptide metabolism Disorder of peptide metabolism Orphanet:79187 Disorder of peptide metabolism Orphanet:79187 updated disorder of peptide metabolism Orphanet:79187 Orphanet -MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasNarrowSynonym cerebrohepatorenal syndrome cerebrohepatorenal syndrome Cerebrohepatorenal syndrome Orphanet:912 Zellweger syndrome https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, ORCID:0000-0002-6601-2165 updated cerebrohepatorenal syndrome Orphanet:912 Orphanet MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of phenylalanin or tyrosine metabolism disorder of phenylalanin or tyrosine metabolism Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism Orphanet:79190 updated disorder of phenylalanin or tyrosine metabolism Orphanet:79190 Orphanet MONDO:0019236 inborn disorder of purine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine metabolism disorder of purine metabolism Disorder of purine metabolism Orphanet:79191 Disorder of purine metabolism Orphanet:79191 updated disorder of purine metabolism Orphanet:79191 Orphanet MONDO:0019237 inborn disorder of pyridoxine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of pyridoxine metabolism disorder of pyridoxine metabolism Disorder of pyridoxine metabolism Orphanet:79192 Disorder of pyridoxine metabolism Orphanet:79192 updated disorder of pyridoxine metabolism Orphanet:79192 Orphanet @@ -112132,22 +108722,16 @@ MONDO:0019250 inborn disorder of biogenic amine metabolism and transport oio:has MONDO:0019254 inborn disorder of purine or pyrimidine metabolism oio:hasExactSynonym oio:hasRelatedSynonym disorder of purine or pyrimidine metabolism disorder of purine or pyrimidine metabolism Disorder of purine or pyrimidine metabolism Orphanet:79224 Disorder of purine or pyrimidine metabolism Orphanet:79224 updated disorder of purine or pyrimidine metabolism Orphanet:79224 Orphanet MONDO:0019284 inherited isolated nail anomaly oio:hasExactSynonym oio:hasRelatedSynonym isolated nail anomaly isolated nail anomaly Isolated nail anomaly Orphanet:79369 Isolated nail anomaly Orphanet:79369 updated isolated nail anomaly Orphanet:79369 Orphanet MONDO:0019303 premature aging syndrome oio:hasExactSynonym oio:hasRelatedSynonym premature aging premature aging Premature aging Orphanet:79389 Premature aging Orphanet:79389 updated premature aging Orphanet:79389 Orphanet -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis Orphanet:313 Lamellar ichthyosis DOID:1699 updated lamellar ichthyosis Orphanet:313 Orphanet MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym oio:hasBroadSynonym DCM Orphanet:79456 Diffuse cutaneous mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:79456 updated DCM Orphanet:79456 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma Orphanet:79490 Microcystic lymphatic malformation Orphanet:79490 updated capillary lymphangioma Orphanet:79490 Orphanet MONDO:0019357 congenital narrowing of cervical spinal canal oio:hasExactSynonym oio:hasRelatedSynonym congenital cervical spinal stenosis congenital cervical spinal stenosis Congenital cervical spinal stenosis Orphanet:831 Congenital cervical spinal stenosis Orphanet:831 updated congenital cervical spinal stenosis Orphanet:831 Orphanet -MONDO:0019369 complex regional pain syndrome oio:hasExactSynonym oio:hasRelatedSynonym reflex sympathetic dystrophy reflex sympathetic dystrophy Reflex sympathetic dystrophy Orphanet:99995 Complex regional pain syndrome type 1 GARD:0004647 updated reflex sympathetic dystrophy Orphanet:99995 Orphanet MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto encephalitis Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Orphanet:83601 updated Hashimoto encephalitis Orphanet:83601 Orphanet MONDO:0019386 progressive rubella panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym rubella panencephalitis rubella panencephalitis Rubella panencephalitis Orphanet:83616 Rubella panencephalitis updated rubella panencephalitis Orphanet:83616 Orphanet -MONDO:0019404 perineurioma oio:hasExactSynonym oio:hasRelatedSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma Orphanet:100002 Extraneural perineurioma NCIT:C6912, DOID:4697 updated soft tissue perineurioma Orphanet:100002 Orphanet -MONDO:0019438 AL amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym primary systemic amyloidosis primary systemic amyloidosis Primary systemic amyloidosis Orphanet:314701 Primary systemic amyloidosis GARD:0005797 updated primary systemic amyloidosis Orphanet:314701 Orphanet MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features http://purl.obolibrary.org/obo/OMO_0003005 updated acute myeloid leukaemia with myelodysplasia-related features Orphanet:86845 Orphanet -MONDO:0019460 acute leukemia of ambiguous lineage oio:hasExactSynonym oio:hasRelatedSynonym mixed phenotype acute leukemia mixed phenotype acute leukemia Mixed phenotype acute leukemia Orphanet:530995 Mixed phenotype acute leukemia Orphanet:86851 updated mixed phenotype acute leukemia Orphanet:530995 Orphanet MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasRelatedSynonym familial progressive cardiac conduction defect familial progressive cardiac conduction defect Familial progressive cardiac conduction defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871 updated familial progressive cardiac conduction defect Orphanet:871 Orphanet MONDO:0019490 progressive familial heart block oio:hasExactSynonym oio:hasNarrowSynonym hereditary bundle branch defect hereditary bundle branch defect Hereditary bundle branch defect Orphanet:871 Familial progressive cardiac conduction defect Orphanet:871, DOID:0111073 updated hereditary bundle branch defect Orphanet:871 Orphanet MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym isolated genetic deafness isolated genetic deafness Isolated genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 updated isolated genetic deafness Orphanet:87884 Orphanet MONDO:0019497 nonsyndromic genetic hearing loss oio:hasExactSynonym oio:hasNarrowSynonym non-syndromic genetic deafness non-syndromic genetic deafness Non-syndromic genetic deafness Orphanet:87884 Non-syndromic genetic deafness Orphanet:87884 updated non-syndromic genetic deafness Orphanet:87884 Orphanet -MONDO:0019499 Turner syndrome oio:hasExactSynonym oio:hasNarrowSynonym monosomy X monosomy X Monosomy X Orphanet:99226 Monosomy X DOID:3491, NCIT:C36630 updated monosomy X Orphanet:99226 Orphanet MONDO:0019501 Usher syndrome oio:hasExactSynonym oio:hasNarrowSynonym retinitis pigmentosa-deafness syndrome retinitis pigmentosa-deafness syndrome Retinitis pigmentosa-deafness syndrome Orphanet:886 Usher syndrome Orphanet:886 updated retinitis pigmentosa-deafness syndrome Orphanet:886 Orphanet MONDO:0019512 congenital heart malformation oio:hasExactSynonym oio:hasRelatedSynonym rare congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation Rare congenital non-syndromic heart malformation Orphanet:88991 Rare congenital non-syndromic heart malformation Orphanet:88991 updated rare congenital non-syndromic heart malformation Orphanet:88991 Orphanet MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency oio:hasExactSynonym oio:hasRelatedSynonym HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Hemolytic anemia due to glutathione reductase deficiency Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency OMIM:618660 updated HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Orphanet:90030 Orphanet @@ -112164,16 +108748,11 @@ MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarro MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive isolated sensorineural deafness type DFNB autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 updated autosomal recessive isolated sensorineural deafness type DFNB Orphanet:90636 Orphanet MONDO:0019588 hearing loss, autosomal recessive oio:hasExactSynonym oio:hasNarrowSynonym autosomal recessive non-syndromic neurosensory deafness type DFNB autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Orphanet:90636 updated autosomal recessive non-syndromic neurosensory deafness type DFNB Orphanet:90636 Orphanet MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym oio:hasRelatedSynonym gastrinoma gastrinoma Gastrinoma Orphanet:913 Zollinger-Ellison syndrome Orphanet:913 updated gastrinoma Orphanet:913 Orphanet -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection Orphanet:229 updated annuloaortic ectasia Orphanet:229 Orphanet -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection oio:hasExactSynonym oio:hasRelatedSynonym cystic medial necrosis of aorta cystic medial necrosis of aorta Cystic medial necrosis of aorta Orphanet:229 Familial aortic dissection Orphanet:229 updated cystic medial necrosis of aorta Orphanet:229 Orphanet MONDO:0019691 short rib dysplasia oio:hasExactSynonym oio:hasRelatedSynonym ciliopathies with major skeletal involvement ciliopathies with major skeletal involvement Ciliopathies with major skeletal involvement Orphanet:93426 Ciliopathies with major skeletal involvement Orphanet:93426 updated ciliopathies with major skeletal involvement Orphanet:93426 Orphanet -MONDO:0019696 acromesomelic dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acromesomelic dwarfism acromesomelic dwarfism Acromesomelic dwarfism Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type GARD:0000006 updated acromesomelic dwarfism Orphanet:968 Orphanet MONDO:0019698 bent bone dysplasia oio:hasExactSynonym oio:hasRelatedSynonym campomelic dysplasia and related disorders campomelic dysplasia and related disorders Campomelic dysplasia and related disorders Orphanet:93439 Campomelic dysplasia and related disorders Orphanet:93439 updated campomelic dysplasia and related disorders Orphanet:93439 Orphanet -MONDO:0019740 acquired thrombotic thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym TTP Orphanet:54057 Thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0004607 updated TTP Orphanet:54057 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0019753 localized Castleman disease oio:hasExactSynonym oio:hasRelatedSynonym Unicentric Castleman disease Orphanet:93685 Unicentric Castleman disease GARD:0006005 updated Unicentric Castleman disease Orphanet:93685 Orphanet MONDO:0019788 non-secreting paraganglioma oio:hasExactSynonym oio:hasRelatedSynonym non-functioning paraganglioma non-functioning paraganglioma Non-functioning paraganglioma Orphanet:94080 Non-functioning paraganglioma Orphanet:94080 updated non-functioning paraganglioma Orphanet:94080 Orphanet MONDO:0019795 acalvaria oio:hasExactSynonym oio:hasRelatedSynonym primary acalvaria primary acalvaria Primary acalvaria Orphanet:945 Acalvaria GARD:0000361 updated primary acalvaria Orphanet:945 Orphanet -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Orphanet:537 Toxic epidermal necrolysis NCIT:C79777 updated Lyell syndrome Orphanet:537 Orphanet MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasRelatedSynonym Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 updated Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet:95455 Orphanet MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym Mosaic trisomy chromosome 8 Orphanet:96061 Mosaic trisomy 8 GARD:0005359 updated Mosaic trisomy chromosome 8 Orphanet:96061 Orphanet MONDO:0019867 mosaic trisomy 8 oio:hasExactSynonym oio:hasRelatedSynonym trisomy 8 mosaicism trisomy 8 mosaicism Trisomy 8 mosaicism Orphanet:96061 Mosaic trisomy 8 GARD:0005359 updated trisomy 8 mosaicism Orphanet:96061 Orphanet @@ -112201,7 +108780,6 @@ MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:ha MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym atrioventricular septal defect atrioventricular septal defect Atrioventricular septal defect Orphanet:98722 Atrioventricular septal defect Orphanet:98722 updated atrioventricular septal defect Orphanet:98722 Orphanet MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym oio:hasNarrowSynonym AVSD Orphanet:98722 Atrioventricular septal defect http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID:0050651, Orphanet:98722 updated AVSD Orphanet:98722 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020310 familial focal epilepsy with variable foci oio:hasExactSynonym oio:hasRelatedSynonym FFEVF Orphanet:98820 Familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical, OMIM:604364, Orphanet:98820 updated FFEVF Orphanet:98820 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukemia acute myelomonocytic leukemia Acute myelomonocytic leukemia Orphanet:517 Acute myelomonocytic leukemia GARD:0000536 updated acute myelomonocytic leukemia Orphanet:517 Orphanet MONDO:0020326 lymphomatoid papulosis oio:hasExactSynonym oio:hasRelatedSynonym LYP LYP LyP Orphanet:98842 Lymphomatoid papulosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:LYP updated LYP Orphanet:98842 Orphanet MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy oio:hasExactSynonym oio:hasNarrowSynonym EDMD2 Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:98853 updated EDMD2 Orphanet:98853 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020344 postsynaptic congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym postsynaptic congenital myasthenic syndromes postsynaptic congenital myasthenic syndromes Postsynaptic congenital myasthenic syndromes Orphanet:98913 Postsynaptic congenital myasthenic syndromes Orphanet:98913 updated postsynaptic congenital myasthenic syndromes Orphanet:98913 Orphanet @@ -112215,16 +108793,12 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia oio:hasExactSynonym MONDO:0020512 precursor T-cell acute lymphoblastic leukemia oio:hasExactSynonym oio:hasBroadSynonym T-ALL Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:99861 updated T-ALL Orphanet:99861 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020540 ovarian gynandroblastoma oio:hasExactSynonym oio:hasRelatedSynonym Gynandroblastoma Orphanet:99914 Gynandroblastoma GARD:0009665 updated Gynandroblastoma Orphanet:99914 Orphanet MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary oio:hasExactSynonym oio:hasRelatedSynonym malignant Sertoli-Leydig cell tumor of the ovary malignant Sertoli-Leydig cell tumor of the ovary Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 updated malignant Sertoli-Leydig cell tumor of the ovary Orphanet:99916 Orphanet -MONDO:0020560 atypical teratoid rhabdoid tumor oio:hasExactSynonym oio:hasRelatedSynonym rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome Rhabdoid tumor predisposition syndrome Orphanet:231108 Rhabdoid tumor predisposition syndrome DOID:2129 updated rhabdoid tumor predisposition syndrome Orphanet:231108 Orphanet -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MCKD Mckd MCKD Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000 updated MCKD Orphanet:34149 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 oio:hasExactSynonym oio:hasRelatedSynonym MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 updated MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 Orphanet -MONDO:0020783 capillary malformation-arteriovenous malformation 1 oio:hasExactSynonym oio:hasBroadSynonym Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Capillary malformation-arteriovenous malformation Orphanet:137667 Capillary malformation-arteriovenous malformation OMIM:608354 updated Capillary Malformation-Arteriovenous Malformation Orphanet:137667 Orphanet MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog syndrome Orphanet:915 Aarskog-Scott syndrome updated Aarskog syndrome Orphanet:915 Orphanet MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasNarrowSynonym Aarskog-Scott syndrome Orphanet:915 Aarskog-Scott syndrome updated Aarskog-Scott syndrome Orphanet:915 Orphanet MONDO:0021005 faciodigitogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym faciogenital dysplasia faciogenital dysplasia Faciogenital dysplasia Orphanet:915 Aarskog-Scott syndrome updated faciogenital dysplasia Orphanet:915 Orphanet MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym autosomal dominant limb-girdle muscular dystrophy type 1D autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 Orphanet:34516 updated autosomal dominant limb-girdle muscular dystrophy type 1D Orphanet:34516 Orphanet MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) oio:hasExactSynonym oio:hasRelatedSynonym limb-girdle muscular dystrophy type 1D limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1D Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 GARD:0012528 updated limb-girdle muscular dystrophy type 1D Orphanet:34516 Orphanet -MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia Orphanet:306773 Hyperekplexia Orphanet:3197 updated hyperekplexia Orphanet:306773 Orphanet MONDO:0021227 adrenal gland neoplasm oio:hasExactSynonym oio:hasRelatedSynonym adrenal/paraganglial tumor adrenal/paraganglial tumor Adrenal/paraganglial tumor Orphanet:100091 Adrenal/paraganglial tumor updated adrenal/paraganglial tumor Orphanet:100091 Orphanet MONDO:0021636 astrocytic tumor oio:hasExactSynonym oio:hasNarrowSynonym astrocytoma astrocytoma Astrocytoma Orphanet:94 Astrocytoma http://purl.obolibrary.org/obo/mondo#AMBIGUOUS https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 updated astrocytoma Orphanet:94 Orphanet MONDO:0023171 foix chavany Marie syndrome oio:hasExactSynonym oio:hasRelatedSynonym bilateral anterior opercular syndrome bilateral anterior opercular syndrome Bilateral anterior opercular syndrome Orphanet:2048 Foix-Chavany-Marie syndrome MESH:C537069 updated bilateral anterior opercular syndrome Orphanet:2048 Orphanet @@ -112236,13 +108810,7 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A oio:hasExactSyno MONDO:0024503 digestive system neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym GEP-NEN Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:100092 updated GEP-NEN Orphanet:100092 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor oio:hasExactSynonym oio:hasRelatedSynonym serotonin-producing neuroendocrine tumor of pancreas serotonin-producing neuroendocrine tumor of pancreas Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 updated serotonin-producing neuroendocrine tumor of pancreas Orphanet:506090 Orphanet MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS1 Orphanet:263553 Peeling skin syndrome type B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS1 Orphanet:263553 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym deciduous skin deciduous skin Deciduous skin Orphanet:817 Peeling skin syndrome OMIM:270300 updated deciduous skin Orphanet:817 Orphanet -MONDO:0024548 peeling skin syndrome 1 oio:hasExactSynonym oio:hasRelatedSynonym PSS Orphanet:817 Peeling skin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:270300 updated PSS Orphanet:817 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Duncan disease Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 updated Duncan disease Orphanet:2442 Orphanet -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Purtilo syndrome Orphanet:2442 X-linked lymphoproliferative disease OMIM:308240 updated Purtilo syndrome Orphanet:2442 Orphanet -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP Xlp XLP Orphanet:2442 X-linked lymphoproliferative disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 updated XLP Orphanet:2442 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym XLP1 Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:308240 updated XLP1 Orphanet:538931 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency oio:hasExactSynonym oio:hasRelatedSynonym Lyp Lyp LyP Orphanet:98842 Lymphomatoid papulosis OMIM:308240 updated Lyp Orphanet:98842 Orphanet MONDO:0024557 ataxia-telangiectasia-like disorder 1 oio:hasExactSynonym oio:hasRelatedSynonym ATLD Atld ATLD Orphanet:251347 Ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:604391 updated ATLD Orphanet:251347 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0024559 aortic aneurysm, familial thoracic 1 oio:hasExactSynonym oio:hasRelatedSynonym annuloaortic ectasia annuloaortic ectasia Annuloaortic ectasia Orphanet:229 Familial aortic dissection OMIM:607086 updated annuloaortic ectasia Orphanet:229 Orphanet MONDO:0024686 tenosynovial giant cell tumor, diffuse type oio:hasExactSynonym oio:hasNarrowSynonym diffuse-type GCT diffuse-type GCT Diffuse-type GCT Orphanet:66627 Tenosynovial giant cell tumor Orphanet:66627 updated diffuse-type GCT Orphanet:66627 Orphanet @@ -112266,7 +108834,6 @@ MONDO:0034145 oculocerebrodental syndrome oio:hasExactSynonym oio:hasRelatedSyno MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym oio:hasRelatedSynonym DIDOD Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617991 updated DIDOD Orphanet:589905 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0037149 HSD10 disease, atypical type oio:hasExactSynonym oio:hasBroadSynonym X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 HSD10 disease, atypical type Orphanet:85295 updated X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome Orphanet:85295 Orphanet MONDO:0043143 microphthalmia microtia fetal akinesia oio:hasExactSynonym oio:hasRelatedSynonym Thomas-Jewett-Raines syndrome Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome GARD:0003650 updated Thomas-Jewett-Raines syndrome Orphanet:2547 Orphanet -MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym FS Orphanet:1305 Feingold syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0007353 updated FS Orphanet:1305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym endemic pemphigus foliaceus endemic pemphigus foliaceus Endemic pemphigus foliaceus Orphanet:636955 Endemic pemphigus foliaceus GARD:0007353, MESH:C535551, Orphanet:636955 updated endemic pemphigus foliaceus Orphanet:636955 Orphanet MONDO:0043257 pemphigus and fogo selvagem oio:hasExactSynonym oio:hasRelatedSynonym fogo selvagem fogo selvagem Fogo selvagem Orphanet:636955 Endemic pemphigus foliaceus updated fogo selvagem Orphanet:636955 Orphanet MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym oio:hasRelatedSynonym Masson's tumor Orphanet:673525 Intravascular papillary endothelial hyperplasia GARD:0010733 updated Masson's tumor Orphanet:673525 Orphanet @@ -112281,7 +108848,6 @@ MONDO:0044710 lip and oral cavity squamous cell carcinoma oio:hasExactSynonym oi MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-De Vries syndrome Gabriele-De Vries syndrome Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 updated Gabriele-De Vries syndrome Orphanet:506358 Orphanet MONDO:0044738 Gabriele de Vries syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gabriele-de Vries syndrome Orphanet:506358 Gabriele-de Vries syndrome OMIM:617557 updated Gabriele-de Vries syndrome Orphanet:506358 Orphanet MONDO:0044740 salivary gland squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym squamous cell carcinoma of salivary glands squamous cell carcinoma of salivary glands Squamous cell carcinoma of salivary glands Orphanet:500481 Squamous cell carcinoma of salivary glands Orphanet:500481 updated squamous cell carcinoma of salivary glands Orphanet:500481 Orphanet -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym oio:hasBroadSynonym carcinoma of liver and intrahepatic biliary tract carcinoma of liver and intrahepatic biliary tract Carcinoma of liver and intrahepatic biliary tract Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract NCIT:C3828 updated carcinoma of liver and intrahepatic biliary tract Orphanet:424936 Orphanet MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym oio:hasRelatedSynonym giant congenital melanocytic nevus giant congenital melanocytic nevus Giant congenital melanocytic nevus Orphanet:626 Large congenital melanocytic nevus GARD:0002469, Orphanet:626 updated giant congenital melanocytic nevus Orphanet:626 Orphanet MONDO:0054680 epiphyseal dysplasia, multiple, 7 oio:hasExactSynonym oio:hasRelatedSynonym EDM7 Orphanet:647676 Multiple epiphyseal dysplasia type 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:617719 updated EDM7 Orphanet:647676 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD oio:hasExactSynonym oio:hasRelatedSynonym CMT2DD Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:618036 updated CMT2DD Orphanet:521414 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -112299,11 +108865,8 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 oio:ha MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis Orphanet:85138 Addison disease NCIT:C113814 updated autoimmune adrenalitis Orphanet:85138 Orphanet MONDO:0700088 paroxysmal nonkinesigenic dyskinesia oio:hasExactSynonym oio:hasRelatedSynonym paroxysmal non-kinesigenic dyskinesia paroxysmal non-kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia Orphanet:98810 updated paroxysmal non-kinesigenic dyskinesia Orphanet:98810 Orphanet MONDO:0800025 Teebi hypertelorism syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Teebi hypertelorism syndrome Orphanet:1519 SPECC1L-related hypertelorism syndrome Orphanet:1519 updated Teebi hypertelorism syndrome Orphanet:1519 Orphanet -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome Orphanet:99803 Haddad syndrome OMIM:209880 updated Haddad syndrome Orphanet:99803 Orphanet -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Ondine-Hirschsprung disease Orphanet:99803 Haddad syndrome OMIM:209880 updated Ondine-Hirschsprung disease Orphanet:99803 Orphanet MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym hereditary diffuse leukoencephalopathy with spheroids hereditary diffuse leukoencephalopathy with spheroids Hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Orphanet:313808 updated hereditary diffuse leukoencephalopathy with spheroids Orphanet:313808 Orphanet MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 oio:hasExactSynonym oio:hasBroadSynonym HDLS Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet:313808, MONDO:Lexical, OMIM:221820 updated HDLS Orphanet:313808 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3205 Sturge-Weber syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 updated SWS Orphanet:3205 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Stüve-Wiedemann syndrome Orphanet:3206 Stüve-Wiedemann syndrome Orphanet:3206 updated Stüve-Wiedemann syndrome Orphanet:3206 Orphanet MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym STWS Stws STWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 updated STWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0800043 Stüve-Wiedemann syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym SWS Orphanet:3206 Stüve-Wiedemann syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:601559 updated SWS Orphanet:3206 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -112311,7 +108874,6 @@ MONDO:0800438 developmental delay with short stature, dysmorphic facial features MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 oio:hasExactSynonym oio:hasBroadSynonym developmental delay-short stature-dysmorphic features-sparse hair syndrome developmental delay-short stature-dysmorphic features-sparse hair syndrome Developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Orphanet:459061 updated developmental delay-short stature-dysmorphic features-sparse hair syndrome Orphanet:459061 Orphanet MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym CACH syndrome Orphanet:135 CACH syndrome Orphanet:135 updated CACH syndrome Orphanet:135 Orphanet MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasRelatedSynonym leukoencephalopathy with vanishing WHITE matter leukoencephalopathy with vanishing WHITE matter Leukoencephalopathy with vanishing white matter Orphanet:135 CACH syndrome OMIM:603896 updated leukoencephalopathy with vanishing WHITE matter Orphanet:135 Orphanet -MONDO:0800448 leukoencephalopathy with vanishing white matter oio:hasExactSynonym oio:hasNarrowSynonym Cree leukoencephalopathy Orphanet:99854 Cree leukoencephalopathy DOID:0060868, GARD:0000231 updated Cree leukoencephalopathy Orphanet:99854 Orphanet MONDO:8000006 WHIM syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym WHIM syndrome Orphanet:51636 WHIM syndrome OMIM:193670, MONDO:Lexical updated WHIM syndrome Orphanet:51636 Orphanet MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym MARTSOLF syndrome MARTSOLF syndrome Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome OMIM:212720 updated MARTSOLF syndrome Orphanet:1387 Orphanet MONDO:8000008 Martsolf syndrome 1 oio:hasExactSynonym oio:hasBroadSynonym Martsolf syndrome Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome Orphanet:1387 updated Martsolf syndrome Orphanet:1387 Orphanet @@ -121092,7 +117654,6 @@ MONDO:0003582 hereditary breast ovarian cancer syndrome oio:hasExactSynonym her MONDO:0003783 lymphopenia oio:hasExactSynonym lymphopenia lymphopenia Lymphopenia icd11.foundation:298296736 Lymphopenia confirmed lymphopenia icd11.foundation:298296736 icd11.foundation MONDO:0003799 conjunctivitis oio:hasExactSynonym conjunctivitis conjunctivitis Conjunctivitis icd11.foundation:831696556 Conjunctivitis confirmed conjunctivitis icd11.foundation:831696556 icd11.foundation MONDO:0003799 conjunctivitis oio:hasExactSynonym inflammation of conjunctiva icd11.foundation:831696556 Conjunctivitis confirmed inflammation of conjunctiva icd11.foundation:831696556 icd11.foundation -MONDO:0003964 myositis ossificans oio:hasExactSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva confirmed myositis ossificans progressiva icd11.foundation:2102976705 icd11.foundation MONDO:0004126 thyroiditis oio:hasExactSynonym thyroiditis thyroiditis Thyroiditis icd11.foundation:587793334 Thyroiditis confirmed thyroiditis icd11.foundation:587793334 icd11.foundation MONDO:0004187 nodular fasciitis oio:hasExactSynonym nodular fasciitis nodular fasciitis Nodular fasciitis icd11.foundation:789101380 Nodular fasciitis confirmed nodular fasciitis icd11.foundation:789101380 icd11.foundation MONDO:0004187 nodular fasciitis oio:hasExactSynonym pseudosarcomatous fasciitis icd11.foundation:789101380 Nodular fasciitis confirmed pseudosarcomatous fasciitis icd11.foundation:789101380 icd11.foundation @@ -121151,14 +117712,11 @@ MONDO:0004952 Hodgkins lymphoma oio:hasExactSynonym Hodgkin lymphoma icd11.fo MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 Peripheral T-cell lymphoma, not otherwise specified confirmed peripheral T-cell lymphoma, not otherwise specified icd11.foundation:855224800 icd11.foundation MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis icd11.foundation:1871672644 Gastritis confirmed gastritis icd11.foundation:1871672644 icd11.foundation MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym amyotrophic lateral sclerosis amyotrophic lateral sclerosis Amyotrophic lateral sclerosis icd11.foundation:1982355687 Amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed amyotrophic lateral sclerosis icd11.foundation:1982355687 icd11.foundation -MONDO:0004976 amyotrophic lateral sclerosis oio:hasExactSynonym Lou Gehrig disease icd11.foundation:661720689 Motor neuron disease confirmed Lou Gehrig disease icd11.foundation:661720689 icd11.foundation MONDO:0004977 angioimmunoblastic T-cell lymphoma oio:hasExactSynonym angioimmunoblastic T-cell lymphoma angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 Angioimmunoblastic T-cell lymphoma confirmed angioimmunoblastic T-cell lymphoma icd11.foundation:1254954229 icd11.foundation -MONDO:0004980 atopic eczema oio:hasExactSynonym allergic dermatitis icd11.foundation:2020673786 Allergic contact dermatitis confirmed allergic dermatitis icd11.foundation:2020673786 icd11.foundation MONDO:0004980 atopic eczema oio:hasExactSynonym atopic dermatitis icd11.foundation:215767047 Atopic eczema confirmed atopic dermatitis icd11.foundation:215767047 icd11.foundation MONDO:0004980 atopic eczema oio:hasExactSynonym atopic eczema atopic eczema Atopic eczema icd11.foundation:215767047 Atopic eczema confirmed atopic eczema icd11.foundation:215767047 icd11.foundation MONDO:0004981 atrial fibrillation oio:hasExactSynonym atrial fibrillation atrial fibrillation Atrial fibrillation icd11.foundation:171698302 Atrial fibrillation confirmed atrial fibrillation icd11.foundation:171698302 icd11.foundation MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy icd11.foundation:282225286 Cardiomyopathy confirmed cardiomyopathy icd11.foundation:282225286 icd11.foundation -MONDO:0005009 congestive heart failure oio:hasExactSynonym weak heart icd11.foundation:1458683894 Heart failure confirmed weak heart icd11.foundation:1458683894 icd11.foundation MONDO:0005009 congestive heart failure oio:hasExactSynonym congestive heart disease congestive heart disease Congestive heart disease icd11.foundation:2136808878 Congestive heart failure confirmed congestive heart disease icd11.foundation:2136808878 icd11.foundation MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn disease icd11.foundation:1267652425 Crohn disease confirmed Crohn disease icd11.foundation:1267652425 icd11.foundation MONDO:0005011 Crohn disease oio:hasExactSynonym Crohn's disease icd11.foundation:1267652425 Crohn disease confirmed Crohn's disease icd11.foundation:1267652425 icd11.foundation @@ -121285,7 +117843,6 @@ MONDO:0005774 glanders oio:hasExactSynonym farcy pipes icd11.foundation:15631 MONDO:0005774 glanders oio:hasExactSynonym infection due to Pseudomonas mallei infection due to Pseudomonas mallei Infection due to Pseudomonas mallei icd11.foundation:1563156715 Glanders confirmed infection due to Pseudomonas mallei icd11.foundation:1563156715 icd11.foundation MONDO:0005777 granuloma inguinale oio:hasExactSynonym donovanosis donovanosis Donovanosis icd11.foundation:764124124 Granuloma inguinale confirmed donovanosis icd11.foundation:764124124 icd11.foundation MONDO:0005777 granuloma inguinale oio:hasExactSynonym granuloma inguinale granuloma inguinale Granuloma inguinale icd11.foundation:764124124 Granuloma inguinale confirmed granuloma inguinale icd11.foundation:764124124 icd11.foundation -MONDO:0005800 hordeolum oio:hasExactSynonym Stye icd11.foundation:522397394 Hordeolum externum confirmed Stye icd11.foundation:522397394 icd11.foundation MONDO:0005802 hymenolepiasis oio:hasExactSynonym dwarf tapeworm infection dwarf tapeworm infection Dwarf tapeworm infection icd11.foundation:2028864113 Hymenolepiasis confirmed dwarf tapeworm infection icd11.foundation:2028864113 icd11.foundation MONDO:0005802 hymenolepiasis oio:hasExactSynonym hymenolepiasis hymenolepiasis Hymenolepiasis icd11.foundation:2028864113 Hymenolepiasis confirmed hymenolepiasis icd11.foundation:2028864113 icd11.foundation MONDO:0005810 infectious mononucleosis oio:hasExactSynonym Gammaherpesviral mononucleosis icd11.foundation:760139952 Infectious mononucleosis confirmed Gammaherpesviral mononucleosis icd11.foundation:760139952 icd11.foundation @@ -121352,7 +117909,6 @@ MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynon MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym Rosai-Dorfman disease icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy confirmed Rosai-Dorfman disease icd11.foundation:1908538383 icd11.foundation MONDO:0006412 sinus histiocytosis with massive lymphadenopathy oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy Sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 Sinus histiocytosis with massive lymphadenopathy confirmed sinus histiocytosis with massive lymphadenopathy icd11.foundation:1908538383 icd11.foundation MONDO:0006451 thymic carcinoma oio:hasExactSynonym carcinoma of thymus carcinoma of thymus Carcinoma of thymus icd11.foundation:1351671383 Carcinoma of thymus confirmed carcinoma of thymus icd11.foundation:1351671383 icd11.foundation -MONDO:0006451 thymic carcinoma oio:hasExactSynonym malignant thymoma malignant thymoma Malignant thymoma icd11.foundation:33869057 Malignant thymoma confirmed malignant thymoma icd11.foundation:33869057 icd11.foundation MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym anaplastic carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland confirmed anaplastic carcinoma of thyroid gland icd11.foundation:320540024 icd11.foundation MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma oio:hasExactSynonym undifferentiated carcinoma of thyroid gland undifferentiated carcinoma of thyroid gland Undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 Undifferentiated carcinoma of thyroid gland confirmed undifferentiated carcinoma of thyroid gland icd11.foundation:320540024 icd11.foundation MONDO:0006497 cerebral palsy oio:hasExactSynonym infantile cerebral palsy icd11.foundation:76906748 Cerebral palsy confirmed infantile cerebral palsy icd11.foundation:76906748 icd11.foundation @@ -121371,9 +117927,6 @@ MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym acne inversa acne in MONDO:0006559 hidradenitis suppurativa oio:hasExactSynonym hidradenitis suppurativa hidradenitis suppurativa Hidradenitis suppurativa icd11.foundation:1621794154 Hidradenitis suppurativa confirmed hidradenitis suppurativa icd11.foundation:1621794154 icd11.foundation MONDO:0006563 inverted follicular keratosis oio:hasExactSynonym inverted follicular keratosis inverted follicular keratosis Inverted follicular keratosis icd11.foundation:2109084329 Inverted follicular keratosis confirmed inverted follicular keratosis icd11.foundation:2109084329 icd11.foundation MONDO:0006572 lichen planus oio:hasExactSynonym lichen ruber planus lichen ruber planus Lichen ruber planus icd11.foundation:1402978031 Lichen planus confirmed lichen ruber planus icd11.foundation:1402978031 icd11.foundation -MONDO:0006580 miliaria oio:hasExactSynonym heat rash heat rash Heat rash icd11.foundation:1245016385 Miliaria rubra confirmed heat rash icd11.foundation:1245016385 icd11.foundation -MONDO:0006580 miliaria oio:hasExactSynonym prickly heat prickly heat Prickly heat icd11.foundation:1245016385 Miliaria rubra confirmed prickly heat icd11.foundation:1245016385 icd11.foundation -MONDO:0006581 miliaria rubra oio:hasExactSynonym sudamina sudamina Sudamina icd11.foundation:796835029 Miliaria crystallina confirmed sudamina icd11.foundation:796835029 icd11.foundation MONDO:0006583 necrobiosis lipoidica oio:hasExactSynonym necrobiosis lipoidica necrobiosis lipoidica Necrobiosis lipoidica icd11.foundation:655608138 Necrobiosis lipoidica confirmed necrobiosis lipoidica icd11.foundation:655608138 icd11.foundation MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis circinata icd11.foundation:919892859 Pityriasis rosea confirmed Pityriasis circinata icd11.foundation:919892859 icd11.foundation MONDO:0006601 pityriasis rosea oio:hasExactSynonym Pityriasis rosea icd11.foundation:919892859 Pityriasis rosea confirmed Pityriasis rosea icd11.foundation:919892859 icd11.foundation @@ -121409,8 +117962,6 @@ MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarco MONDO:0006866 neonatal myasthenia gravis oio:hasExactSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis confirmed neonatal myasthenia gravis icd11.foundation:1274860004 icd11.foundation MONDO:0006881 orbital cellulitis oio:hasExactSynonym orbital cellulitis orbital cellulitis Orbital cellulitis icd11.foundation:1330743591 Orbital cellulitis confirmed orbital cellulitis icd11.foundation:1330743591 icd11.foundation MONDO:0006907 pilar sheath acanthoma oio:hasExactSynonym Pilar sheath acanthoma icd11.foundation:281473034 Pilar sheath acanthoma confirmed Pilar sheath acanthoma icd11.foundation:281473034 icd11.foundation -MONDO:0006941 rat-bite fever oio:hasExactSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis confirmed spirillosis icd11.foundation:1104357482 icd11.foundation -MONDO:0006941 rat-bite fever oio:hasExactSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis confirmed Streptobacillosis icd11.foundation:614000128 icd11.foundation MONDO:0006950 retinal vasculitis oio:hasExactSynonym retinal vasculitis retinal vasculitis Retinal vasculitis icd11.foundation:1863208483 Retinal vasculitis confirmed retinal vasculitis icd11.foundation:1863208483 icd11.foundation MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym Terry syndrome icd11.foundation:947283385 Retinopathy of prematurity confirmed Terry syndrome icd11.foundation:947283385 icd11.foundation MONDO:0006952 retinopathy of prematurity oio:hasExactSynonym retrolental fibroplasia retrolental fibroplasia Retrolental fibroplasia icd11.foundation:947283385 Retinopathy of prematurity confirmed retrolental fibroplasia icd11.foundation:947283385 icd11.foundation @@ -121465,7 +118016,6 @@ MONDO:0007113 Angelman syndrome oio:hasExactSynonym Angelman syndrome icd11.f MONDO:0007116 hereditary neurocutaneous angioma oio:hasExactSynonym hereditary neurocutaneous angioma hereditary neurocutaneous angioma Hereditary neurocutaneous angioma icd11.foundation:182579434 Hereditary neurocutaneous angioma confirmed hereditary neurocutaneous angioma icd11.foundation:182579434 icd11.foundation MONDO:0007125 ankyloglossia oio:hasExactSynonym ankyloglossia ankyloglossia Ankyloglossia icd11.foundation:1838543063 Ankyloglossia confirmed ankyloglossia icd11.foundation:1838543063 icd11.foundation MONDO:0007128 annular erythema oio:hasExactSynonym annular erythema annular erythema Annular erythema icd11.foundation:958930318 Annular erythema confirmed annular erythema icd11.foundation:958930318 icd11.foundation -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym pulmonary venolobar syndrome icd11.foundation:1321054364 Scimitar syndrome confirmed pulmonary venolobar syndrome icd11.foundation:1321054364 icd11.foundation MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym total anomalous pulmonary venous return icd11.foundation:1532925990 Total anomalous pulmonary venous connection confirmed total anomalous pulmonary venous return icd11.foundation:1532925990 icd11.foundation MONDO:0007142 Townes-Brocks syndrome oio:hasExactSynonym Townes-Brocks syndrome icd11.foundation:66554749 Townes-Brocks syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Townes-Brocks syndrome icd11.foundation:66554749 icd11.foundation MONDO:0007145 aplasia cutis congenita oio:hasExactSynonym aplasia cutis congenita aplasia cutis congenita Aplasia cutis congenita icd11.foundation:350175828 Aplasia cutis congenita confirmed aplasia cutis congenita icd11.foundation:350175828 icd11.foundation @@ -121508,7 +118058,6 @@ MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille syndrome icd11.f MONDO:0007318 Alagille syndrome oio:hasExactSynonym Alagille-Watson syndrome icd11.foundation:1249656206 Alagille syndrome confirmed Alagille-Watson syndrome icd11.foundation:1249656206 icd11.foundation MONDO:0007318 Alagille syndrome oio:hasExactSynonym Arteriohepatic dysplasia icd11.foundation:1249656206 Alagille syndrome confirmed Arteriohepatic dysplasia icd11.foundation:1249656206 icd11.foundation MONDO:0007318 Alagille syndrome oio:hasExactSynonym syndromic bile duct paucity syndromic bile duct paucity Syndromic bile duct paucity icd11.foundation:1249656206 Alagille syndrome confirmed syndromic bile duct paucity icd11.foundation:1249656206 icd11.foundation -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym popliteal web syndrome popliteal web syndrome Popliteal web syndrome icd11.foundation:543218573 Popliteal pterygium syndrome confirmed popliteal web syndrome icd11.foundation:543218573 icd11.foundation MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft soft palate cleft soft palate Cleft soft palate icd11.foundation:797497023 Cleft soft palate confirmed cleft soft palate icd11.foundation:797497023 icd11.foundation MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum cleft velum Cleft velum icd11.foundation:797497023 Cleft soft palate confirmed cleft velum icd11.foundation:797497023 icd11.foundation MONDO:0007338 cleft soft palate oio:hasExactSynonym cleft velum palatinum cleft velum palatinum Cleft velum palatinum icd11.foundation:797497023 Cleft soft palate confirmed cleft velum palatinum icd11.foundation:797497023 icd11.foundation @@ -121528,7 +118077,6 @@ MONDO:0007381 epithelial recurrent erosion dystrophy oio:hasExactSynonym recurr MONDO:0007392 coxoauricular syndrome oio:hasExactSynonym coxoauricular syndrome coxoauricular syndrome Coxoauricular syndrome icd11.foundation:649449912 Coxoauricular syndrome confirmed coxoauricular syndrome icd11.foundation:649449912 icd11.foundation MONDO:0007395 craniofacial-deafness-hand syndrome oio:hasExactSynonym craniofacial-deafness-hand syndrome craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome icd11.foundation:1355682887 Craniofacial-deafness-hand syndrome confirmed craniofacial-deafness-hand syndrome icd11.foundation:1355682887 icd11.foundation MONDO:0007398 craniorhiny oio:hasExactSynonym craniorhiny craniorhiny Craniorhiny icd11.foundation:853619848 Craniorhiny confirmed craniorhiny icd11.foundation:853619848 icd11.foundation -MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym 5p partial monosomy syndrome icd11.foundation:1109271336 Deletions of the short arm of chromosome 5 confirmed 5p partial monosomy syndrome icd11.foundation:1109271336 icd11.foundation MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym Cri-du-chat syndrome icd11.foundation:620584190 Cri-du-chat syndrome confirmed Cri-du-chat syndrome icd11.foundation:620584190 icd11.foundation MONDO:0007412 Beare-Stevenson cutis gyrata syndrome oio:hasExactSynonym Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 Beare-Stevenson cutis gyrata syndrome confirmed Beare-Stevenson cutis gyrata syndrome icd11.foundation:947865461 icd11.foundation MONDO:0007414 Gorham-Stout disease oio:hasExactSynonym Gorham-Stout disease icd11.foundation:1318015458 Gorham-Stout disease confirmed Gorham-Stout disease icd11.foundation:1318015458 icd11.foundation @@ -121540,7 +118088,6 @@ MONDO:0007417 Darier disease oio:hasExactSynonym Keratosis Follicularis Keratos MONDO:0007417 Darier disease oio:hasExactSynonym keratosis follicularis keratosis follicularis Keratosis follicularis icd11.foundation:643994486 Darier disease confirmed keratosis follicularis icd11.foundation:643994486 icd11.foundation MONDO:0007430 dens evaginatus oio:hasExactSynonym dens evaginatus dens evaginatus Dens evaginatus icd11.foundation:474468588 Dens evaginatus confirmed dens evaginatus icd11.foundation:474468588 icd11.foundation MONDO:0007446 dermatosis papulosa nigra oio:hasExactSynonym dermatosis papulosa nigra dermatosis papulosa nigra Dermatosis papulosa nigra icd11.foundation:168986957 Dermatosis papulosa nigra confirmed dermatosis papulosa nigra icd11.foundation:168986957 icd11.foundation -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym vasopressin deficiency icd11.foundation:1009553897 Central diabetes insipidus confirmed vasopressin deficiency icd11.foundation:1009553897 icd11.foundation MONDO:0007489 dysplasia epiphysealis hemimelica oio:hasExactSynonym dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica icd11.foundation:1995096940 Dysplasia epiphysealis hemimelica confirmed dysplasia epiphysealis hemimelica icd11.foundation:1995096940 icd11.foundation MONDO:0007508 Rapp-Hodgkin syndrome oio:hasExactSynonym Rapp-Hodgkin syndrome icd11.foundation:1455333054 Rapp-Hodgkin syndrome confirmed Rapp-Hodgkin syndrome icd11.foundation:1455333054 icd11.foundation MONDO:0007515 ectopia pupillae oio:hasExactSynonym ectopia pupillae ectopia pupillae Ectopia pupillae icd11.foundation:70138444 Ectopia pupillae confirmed ectopia pupillae icd11.foundation:70138444 icd11.foundation @@ -121639,8 +118186,8 @@ MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym disseminated lup MONDO:0007915 systemic lupus erythematosus oio:hasExactSynonym systemic lupus erythematosus systemic lupus erythematosus Systemic lupus erythematosus icd11.foundation:749596428 Systemic lupus erythematosus confirmed systemic lupus erythematosus icd11.foundation:749596428 icd11.foundation MONDO:0007921 yellow nail syndrome oio:hasExactSynonym yellow nail syndrome yellow nail syndrome Yellow nail syndrome icd11.foundation:47812081 Yellow nail syndrome confirmed yellow nail syndrome icd11.foundation:47812081 icd11.foundation MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome oio:hasExactSynonym Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 Bannayan-Riley-Ruvalcaba syndrome confirmed Bannayan-Riley-Ruvalcaba syndrome icd11.foundation:357383447 icd11.foundation -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) confirmed myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 icd11.foundation MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with isolated del(5q) Myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) confirmed myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 icd11.foundation +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) oio:hasExactSynonym myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 Myelodysplastic syndrome with isolated del(5q) confirmed myelodysplastic syndrome with isolated del(5q) icd11.foundation:420472577 icd11.foundation MONDO:0007946 jaw-winking syndrome oio:hasExactSynonym Marcus-Gunn syndrome icd11.foundation:590216180 Marcus-Gunn syndrome confirmed Marcus-Gunn syndrome icd11.foundation:590216180 icd11.foundation MONDO:0007947 Marfan syndrome oio:hasExactSynonym Marfan syndrome icd11.foundation:236564145 Marfan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Marfan syndrome icd11.foundation:236564145 icd11.foundation MONDO:0007949 Marshall syndrome oio:hasExactSynonym Marshall syndrome icd11.foundation:1401051186 Marshall syndrome confirmed Marshall syndrome icd11.foundation:1401051186 icd11.foundation @@ -121659,8 +118206,6 @@ MONDO:0008015 motion sickness oio:hasExactSynonym motion sickness motion sickne MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome confirmed Muir-Torre syndrome icd11.foundation:229304403 icd11.foundation MONDO:0008039 tropical spastic paraparesis oio:hasExactSynonym tropical spastic paraplegia icd11.foundation:1043229589 Human T-cell lymphotropic virus-associated myelopathy confirmed tropical spastic paraplegia icd11.foundation:1043229589 icd11.foundation MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym juvenile dermatomyositis juvenile dermatomyositis Juvenile dermatomyositis icd11.foundation:1428089375 Juvenile dermatomyositis confirmed juvenile dermatomyositis icd11.foundation:1428089375 icd11.foundation -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Myotonic Dystrophy Myotonic Dystrophy Myotonic dystrophy icd11.foundation:192087511 Myotonic dystrophy confirmed Myotonic Dystrophy icd11.foundation:192087511 icd11.foundation -MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym dystrophia myotonica icd11.foundation:192087511 Myotonic dystrophy confirmed dystrophia myotonica icd11.foundation:192087511 icd11.foundation MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert disease icd11.foundation:557405480 Myotonic dystrophy type 1 confirmed Steinert disease icd11.foundation:557405480 icd11.foundation MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert myotonic dystrophy syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 confirmed Steinert myotonic dystrophy syndrome icd11.foundation:557405480 icd11.foundation MONDO:0008056 myotonic dystrophy type 1 oio:hasExactSynonym Steinert syndrome icd11.foundation:557405480 Myotonic dystrophy type 1 confirmed Steinert syndrome icd11.foundation:557405480 icd11.foundation @@ -121703,7 +118248,6 @@ MONDO:0008221 prolidase deficiency oio:hasExactSynonym hyperimidodipeptiduria h MONDO:0008221 prolidase deficiency oio:hasExactSynonym prolidase deficiency prolidase deficiency Prolidase deficiency icd11.foundation:1416203271 Prolidase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed prolidase deficiency icd11.foundation:1416203271 icd11.foundation MONDO:0008224 hyperkalemic periodic paralysis oio:hasExactSynonym adynamia episodica hereditaria icd11.foundation:1308452752 Hyperkalaemic periodic paralysis confirmed adynamia episodica hereditaria icd11.foundation:1308452752 icd11.foundation MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A icd11.foundation:1689268035 Multiple endocrine neoplasia type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A icd11.foundation:1689268035 icd11.foundation -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym Sipple syndrome icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 confirmed Sipple syndrome icd11.foundation:1837913809 icd11.foundation MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism icd11.foundation:2089421143 Piebaldism confirmed piebaldism icd11.foundation:2089421143 icd11.foundation MONDO:0008260 Kindler syndrome oio:hasExactSynonym Kindler syndrome icd11.foundation:726317303 Kindler syndrome confirmed Kindler syndrome icd11.foundation:726317303 icd11.foundation MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly icd11.foundation:1364451323 Poland syndrome confirmed Poland anomaly icd11.foundation:1364451323 icd11.foundation @@ -121850,7 +118394,6 @@ MONDO:0008797 anodontia oio:hasExactSynonym complete absence of teeth icd11.f MONDO:0008797 anodontia oio:hasExactSynonym developmental absence of tooth icd11.foundation:413433873 Anodontia confirmed developmental absence of tooth icd11.foundation:413433873 icd11.foundation MONDO:0008797 anodontia oio:hasExactSynonym total anodontia of permanent and deciduous teeth icd11.foundation:413433873 Anodontia confirmed total anodontia of permanent and deciduous teeth icd11.foundation:413433873 icd11.foundation MONDO:0008810 familial apolipoprotein C-II deficiency oio:hasExactSynonym familial apolipoprotein C-II deficiency familial apolipoprotein C-II deficiency Familial apolipoprotein C-II deficiency icd11.foundation:877401371 Familial apolipoprotein C-II deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed familial apolipoprotein C-II deficiency icd11.foundation:877401371 icd11.foundation -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym Garcia-Lurie syndrome icd11.foundation:1740361952 Aprosencephaly confirmed Garcia-Lurie syndrome icd11.foundation:1740361952 icd11.foundation MONDO:0008814 hyperargininemia oio:hasExactSynonym arginase deficiency arginase deficiency Arginase deficiency icd11.foundation:1619102598 Argininaemia confirmed arginase deficiency icd11.foundation:1619102598 icd11.foundation MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinase deficiency argininosuccinase deficiency Argininosuccinase deficiency icd11.foundation:439383288 Argininosuccinic aciduria confirmed argininosuccinase deficiency icd11.foundation:439383288 icd11.foundation MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym argininosuccinic aciduria argininosuccinic aciduria Argininosuccinic aciduria icd11.foundation:439383288 Argininosuccinic aciduria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed argininosuccinic aciduria icd11.foundation:439383288 icd11.foundation @@ -122095,7 +118638,6 @@ MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysacchar MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym Sanfilippo syndrome type D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D confirmed Sanfilippo syndrome type D icd11.foundation:1780990193 icd11.foundation MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym mucopolysaccharidosis type 3D mucopolysaccharidosis type 3D Mucopolysaccharidosis type 3D icd11.foundation:1780990193 Mucopolysaccharidosis type 3D http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mucopolysaccharidosis type 3D icd11.foundation:1780990193 icd11.foundation MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym mucopolysaccharidosis type 4A mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4A icd11.foundation:1919173641 Mucopolysaccharidosis type 4A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mucopolysaccharidosis type 4A icd11.foundation:1919173641 icd11.foundation -MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 confirmed galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 icd11.foundation MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency icd11.foundation:1479415032 Mucopolysaccharidosis type 4B confirmed Beta-D-galactosidase deficiency icd11.foundation:1479415032 icd11.foundation MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym Maroteaux-Lamy syndrome icd11.foundation:1288379621 Mucopolysaccharidosis type 6 confirmed Maroteaux-Lamy syndrome icd11.foundation:1288379621 icd11.foundation MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 Mucopolysaccharidosis type 6 confirmed N-acetylgalactosamine 4-sulfatase deficiency icd11.foundation:1288379621 icd11.foundation @@ -122160,8 +118702,8 @@ MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym Shwachman-Diamond MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Immunosuppressive measles encephalitis Immunosuppressive measles encephalitis immunosuppressive measles encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis confirmed Immunosuppressive measles encephalitis icd11.foundation:1098683540 icd11.foundation MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis confirmed Subacute sclerosing panencephalitis icd11.foundation:1098683540 icd11.foundation MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym subacute sclerosing panencephalitis subacute sclerosing panencephalitis Subacute sclerosing panencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis confirmed subacute sclerosing panencephalitis icd11.foundation:1098683540 icd11.foundation -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma confirmed choroid plexus papilloma icd11.foundation:1696749652 icd11.foundation MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma confirmed choroid plexus papilloma icd11.foundation:1696749652 icd11.foundation +MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym choroid plexus papilloma choroid plexus papilloma Choroid plexus papilloma icd11.foundation:1696749652 Choroid plexus papilloma confirmed choroid plexus papilloma icd11.foundation:1696749652 icd11.foundation MONDO:0009841 PEHO syndrome oio:hasExactSynonym peho syndrome peho syndrome PEHO syndrome icd11.foundation:976613527 PEHO syndrome confirmed peho syndrome icd11.foundation:976613527 icd11.foundation MONDO:0009853 Imerslund-Grasbeck syndrome oio:hasExactSynonym Imerslund-Grasbeck syndrome icd11.foundation:375969525 Imerslund-Grasbeck syndrome confirmed Imerslund-Grasbeck syndrome icd11.foundation:375969525 icd11.foundation MONDO:0009857 persistent Mullerian duct syndrome oio:hasExactSynonym persistent Mullerian duct syndrome persistent Mullerian duct syndrome Persistent Mullerian duct syndrome icd11.foundation:697796373 Persistent Mullerian duct syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed persistent Mullerian duct syndrome icd11.foundation:697796373 icd11.foundation @@ -122278,7 +118820,6 @@ MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym X-linked hyperuricemia X MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome confirmed complete hypoxanthine-guanine phosphoribosyltransferase deficiency icd11.foundation:1886495906 icd11.foundation MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym deficiency of IMP pyrophosphorylase deficiency of IMP pyrophosphorylase deficiency of imp pyrophosphorylase icd11.foundation:1886495906 Lesch-Nyhan syndrome confirmed deficiency of IMP pyrophosphorylase icd11.foundation:1886495906 icd11.foundation MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym Lesch-Nyhan syndrome icd11.foundation:1886495906 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lesch-Nyhan syndrome icd11.foundation:1886495906 icd11.foundation -MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym benign congenital myopathy icd11.foundation:1185572073 Congenital myopathies confirmed benign congenital myopathy icd11.foundation:1185572073 icd11.foundation MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker muscular dystrophy icd11.foundation:690532643 Becker muscular dystrophy confirmed Becker muscular dystrophy icd11.foundation:690532643 icd11.foundation MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Allan-Herndon-Dudley syndrome icd11.foundation:56813604 icd11.foundation MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis oio:hasExactSynonym nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 Nephrogenic syndrome of inappropriate antidiuresis confirmed nephrogenic syndrome of inappropriate antidiuresis icd11.foundation:808905140 icd11.foundation @@ -122540,7 +119081,6 @@ MONDO:0012552 multiple endocrine neoplasia type 4 oio:hasExactSynonym multiple MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency oio:hasExactSynonym primary immunodeficiency syndrome with short stature primary immunodeficiency syndrome with short stature Primary immunodeficiency syndrome with short stature icd11.foundation:813140844 Primary immunodeficiency syndrome due to p14 deficiency confirmed primary immunodeficiency syndrome with short stature icd11.foundation:813140844 icd11.foundation MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym Potocki-Lupski syndrome icd11.foundation:1720095972 Potocki-Lupski syndrome confirmed Potocki-Lupski syndrome icd11.foundation:1720095972 icd11.foundation MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym trisomy 17p11.2 trisomy 17p11.2 Trisomy 17p11.2 icd11.foundation:1720095972 Potocki-Lupski syndrome confirmed trisomy 17p11.2 icd11.foundation:1720095972 icd11.foundation -MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis Pulmonary alveolar proteinosis icd11.foundation:1869739196 Pulmonary alveolar proteinosis confirmed Pulmonary Alveolar Proteinosis icd11.foundation:1869739196 icd11.foundation MONDO:0012579 autoimmune pulmonary alveolar proteinosis oio:hasExactSynonym idiopathic pulmonary alveolar proteinosis idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 Autoimmune pulmonary alveolar proteinosis confirmed idiopathic pulmonary alveolar proteinosis icd11.foundation:676409940 icd11.foundation MONDO:0012589 Pitt-Hopkins syndrome oio:hasExactSynonym Pitt-Hopkins syndrome icd11.foundation:2040786134 Pitt-Hopkins syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Pitt-Hopkins syndrome icd11.foundation:2040786134 icd11.foundation MONDO:0012593 brain-lung-thyroid syndrome oio:hasExactSynonym brain-lung-thyroid syndrome brain-lung-thyroid syndrome Brain-lung-thyroid syndrome icd11.foundation:809856670 Brain-lung-thyroid syndrome confirmed brain-lung-thyroid syndrome icd11.foundation:809856670 icd11.foundation @@ -122655,7 +119195,6 @@ MONDO:0015339 adrenomyeloneuropathy oio:hasExactSynonym adrenomyeloneuropathy a MONDO:0015340 drug rash with eosinophilia and systemic symptoms oio:hasExactSynonym DRESS syndrome icd11.foundation:516577496 DRESS syndrome confirmed DRESS syndrome icd11.foundation:516577496 icd11.foundation MONDO:0015346 epilepsy with eyelid myoclonia oio:hasExactSynonym Jeavons syndrome icd11.foundation:262814036 Jeavons syndrome confirmed Jeavons syndrome icd11.foundation:262814036 icd11.foundation MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis multicentric reticulohistiocytosis Multicentric reticulohistiocytosis icd11.foundation:977116795 Multicentric reticulohistiocytosis confirmed multicentric reticulohistiocytosis icd11.foundation:977116795 icd11.foundation -MONDO:0015364 hereditary sensory and autonomic neuropathy oio:hasExactSynonym congenital insensitivity to pain congenital insensitivity to pain Congenital insensitivity to pain icd11.foundation:1411011731 Hereditary sensory and autonomic neuropathy type V confirmed congenital insensitivity to pain icd11.foundation:1411011731 icd11.foundation MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome confirmed Oral-Facial-Digital Syndrome icd11.foundation:1405407847 icd11.foundation MONDO:0015375 orofaciodigital syndrome oio:hasExactSynonym oral-facial-digital syndrome oral-facial-digital syndrome Oral-facial-digital syndrome icd11.foundation:1405407847 Oral-facial-digital syndrome confirmed oral-facial-digital syndrome icd11.foundation:1405407847 icd11.foundation MONDO:0015376 first branchial cleft anomaly oio:hasExactSynonym first branchial cleft cyst first branchial cleft cyst First branchial cleft cyst icd11.foundation:1956658224 First branchial cleft anomaly confirmed first branchial cleft cyst icd11.foundation:1956658224 icd11.foundation @@ -122666,7 +119205,6 @@ MONDO:0015386 epignathus oio:hasExactSynonym oropharyngeal teratoma oropharynge MONDO:0015388 polyrrhinia oio:hasExactSynonym Double nose icd11.foundation:142812177 Polyrrhinia confirmed Double nose icd11.foundation:142812177 icd11.foundation MONDO:0015390 proboscis lateralis oio:hasExactSynonym congenital tubular nose congenital tubular nose Congenital tubular nose icd11.foundation:646148612 Proboscis lateralis confirmed congenital tubular nose icd11.foundation:646148612 icd11.foundation MONDO:0015392 nasal glial heterotopia oio:hasExactSynonym nasal glioma nasal glioma Nasal glioma icd11.foundation:1449384774 Nasal glial heterotopia confirmed nasal glioma icd11.foundation:1449384774 icd11.foundation -MONDO:0015414 paramedian nasal cleft oio:hasExactSynonym cleft nose icd11.foundation:1824850646 Bifid nose confirmed cleft nose icd11.foundation:1824850646 icd11.foundation MONDO:0015452 Coffin-Siris syndrome oio:hasExactSynonym Coffin-Siris syndrome icd11.foundation:734451870 Coffin-Siris syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Coffin-Siris syndrome icd11.foundation:734451870 icd11.foundation MONDO:0015453 Cogan syndrome oio:hasExactSynonym Cogan syndrome icd11.foundation:2098089327 Cogan syndrome confirmed Cogan syndrome icd11.foundation:2098089327 icd11.foundation MONDO:0015454 multiple carboxylase deficiency oio:hasExactSynonym multiple carboxylase deficiency multiple carboxylase deficiency Multiple carboxylase deficiency icd11.foundation:1133091451 Multiple carboxylase deficiency confirmed multiple carboxylase deficiency icd11.foundation:1133091451 icd11.foundation @@ -122788,9 +119326,8 @@ MONDO:0016608 megalencephaly oio:hasExactSynonym macroencephaly macroencephaly MONDO:0016608 megalencephaly oio:hasExactSynonym megalencephaly megalencephaly Megalencephaly icd11.foundation:368780653 Megalencephaly confirmed megalencephaly icd11.foundation:368780653 icd11.foundation MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis cerebri icd11.foundation:373131154 Gliomatosis cerebri confirmed gliomatosis cerebri icd11.foundation:373131154 icd11.foundation MONDO:0016712 classic medulloblastoma oio:hasExactSynonym classic medulloblastoma classic medulloblastoma Classic medulloblastoma icd11.foundation:1548011794 Classic medulloblastoma confirmed classic medulloblastoma icd11.foundation:1548011794 icd11.foundation -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma confirmed choroid plexus carcinoma icd11.foundation:1128449352 icd11.foundation MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma confirmed choroid plexus carcinoma icd11.foundation:1128449352 icd11.foundation -MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym anaplastic choroid plexus papilloma icd11.foundation:1959912502 Choroid plexus tumours confirmed anaplastic choroid plexus papilloma icd11.foundation:1959912502 icd11.foundation +MONDO:0016718 choroid plexus carcinoma oio:hasExactSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma confirmed choroid plexus carcinoma icd11.foundation:1128449352 icd11.foundation MONDO:0016723 pineocytoma oio:hasExactSynonym pineocytoma pineocytoma Pineocytoma icd11.foundation:2055142333 Pineocytoma confirmed pineocytoma icd11.foundation:2055142333 icd11.foundation MONDO:0016733 ganglioglioma oio:hasExactSynonym ganglioglioma ganglioglioma Ganglioglioma icd11.foundation:1287417975 Ganglioglioma confirmed ganglioglioma icd11.foundation:1287417975 icd11.foundation MONDO:0016755 neurofibroma oio:hasExactSynonym neurofibroma neurofibroma Neurofibroma icd11.foundation:221014277 Neurofibroma confirmed neurofibroma icd11.foundation:221014277 icd11.foundation @@ -122818,12 +119355,10 @@ MONDO:0017201 Spasmus nutans oio:hasExactSynonym Spasmus nutans icd11.foundat MONDO:0017219 microform holoprosencephaly oio:hasExactSynonym holoprosencephaly-like holoprosencephaly-like Holoprosencephaly-like icd11.foundation:44293173 Microform holoprosencephaly confirmed holoprosencephaly-like icd11.foundation:44293173 icd11.foundation MONDO:0017255 panuveitis oio:hasExactSynonym diffuse uveitis icd11.foundation:1125547814 Panuveitis confirmed diffuse uveitis icd11.foundation:1125547814 icd11.foundation MONDO:0017255 panuveitis oio:hasExactSynonym panuveitis panuveitis Panuveitis icd11.foundation:1125547814 Panuveitis confirmed panuveitis icd11.foundation:1125547814 icd11.foundation -MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym Antiphospholipid Syndrome Antiphospholipid Syndrome Antiphospholipid syndrome icd11.foundation:1173370808 Antiphospholipid syndrome confirmed Antiphospholipid Syndrome icd11.foundation:1173370808 icd11.foundation MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyendocrinopathy autoimmune polyendocrinopathy Autoimmune polyendocrinopathy icd11.foundation:548357900 Autoimmune polyendocrinopathy confirmed autoimmune polyendocrinopathy icd11.foundation:548357900 icd11.foundation MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular failure autoimmune polyglandular failure Autoimmune polyglandular failure icd11.foundation:548357900 Autoimmune polyendocrinopathy confirmed autoimmune polyglandular failure icd11.foundation:548357900 icd11.foundation MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune polyglandular syndrome autoimmune polyglandular syndrome Autoimmune polyglandular syndrome icd11.foundation:548357900 Autoimmune polyendocrinopathy confirmed autoimmune polyglandular syndrome icd11.foundation:548357900 icd11.foundation MONDO:0017280 demodicidosis oio:hasExactSynonym Demodicosis icd11.foundation:1473144548 Infestation by Demodex confirmed Demodicosis icd11.foundation:1473144548 icd11.foundation -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym Echinococcus multilocularis infection Echinococcus multilocularis infection echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis confirmed Echinococcus multilocularis infection icd11.foundation:1456802165 icd11.foundation MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal transposition icd11.foundation:1417779551 Penoscrotal transposition confirmed penoscrotal transposition icd11.foundation:1417779551 icd11.foundation MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids oio:hasExactSynonym chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids confirmed chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids icd11.foundation:913443626 icd11.foundation MONDO:0017304 ocular albinism oio:hasExactSynonym ocular albinism ocular albinism Ocular albinism icd11.foundation:1147926040 Ocular albinism confirmed ocular albinism icd11.foundation:1147926040 icd11.foundation @@ -122860,11 +119395,9 @@ MONDO:0017612 junctional epidermolysis bullosa oio:hasExactSynonym junctional e MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogen storage disease type 2, infantile onset glycogen storage disease type 2, infantile onset Glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset confirmed glycogen storage disease type 2, infantile onset icd11.foundation:1496243702 icd11.foundation MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset oio:hasExactSynonym glycogenosis type 2, infantile onset glycogenosis type 2, infantile onset Glycogenosis type 2, infantile onset icd11.foundation:1496243702 Glycogen storage disease due to acid maltase deficiency, infantile onset confirmed glycogenosis type 2, infantile onset icd11.foundation:1496243702 icd11.foundation MONDO:0017775 melioidosis oio:hasExactSynonym pseudoglanders icd11.foundation:2129350166 Melioidosis confirmed pseudoglanders icd11.foundation:2129350166 icd11.foundation -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency oio:hasExactSynonym Schindler disease icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 confirmed Schindler disease icd11.foundation:1058486825 icd11.foundation MONDO:0017799 Meigs syndrome oio:hasExactSynonym Meigs' syndrome icd11.foundation:1050919535 Meigs' syndrome confirmed Meigs' syndrome icd11.foundation:1050919535 icd11.foundation MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital sequestration of lung congenital sequestration of lung Congenital sequestration of lung icd11.foundation:1833083626 Congenital sequestration of lung confirmed congenital sequestration of lung icd11.foundation:1833083626 icd11.foundation MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome icd11.foundation:1358020385 Szary syndrome confirmed Sezary syndrome icd11.foundation:1358020385 icd11.foundation -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sheehan Syndrome Sheehan Syndrome Sheehan syndrome icd11.foundation:421687193 Sheehan syndrome confirmed Sheehan Syndrome icd11.foundation:421687193 icd11.foundation MONDO:0017851 erythrokeratodermia variabilis oio:hasExactSynonym erythrokeratodermia variabilis erythrokeratodermia variabilis Erythrokeratodermia variabilis icd11.foundation:551200965 Erythrokeratodermia variabilis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed erythrokeratodermia variabilis icd11.foundation:551200965 icd11.foundation MONDO:0017941 chikungunya oio:hasExactSynonym Chikungunya fever icd11.foundation:900389391 Chikungunya virus disease confirmed Chikungunya fever icd11.foundation:900389391 icd11.foundation MONDO:0017979 autoimmune lymphoproliferative syndrome oio:hasExactSynonym Canale-Smith syndrome icd11.foundation:1072688797 Autoimmune lymphoproliferative syndrome confirmed Canale-Smith syndrome icd11.foundation:1072688797 icd11.foundation @@ -122921,7 +119454,6 @@ MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-positi MONDO:0018227 hypocomplementemic urticarial vasculitis oio:hasExactSynonym anti-C1q vasculitis anti-C1q vasculitis Anti-C1q vasculitis icd11.foundation:629572966 Hypocomplementaemic urticarial vasculitis confirmed anti-C1q vasculitis icd11.foundation:629572966 icd11.foundation MONDO:0018242 autoimmune hypoparathyroidism oio:hasExactSynonym autoimmune hypoparathyroidism autoimmune hypoparathyroidism Autoimmune hypoparathyroidism icd11.foundation:1790437089 Autoimmune hypoparathyroidism confirmed autoimmune hypoparathyroidism icd11.foundation:1790437089 icd11.foundation MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym chronic septic granulomatosis chronic septic granulomatosis Chronic septic granulomatosis icd11.foundation:1329764681 Chronic granulomatous disease confirmed chronic septic granulomatosis icd11.foundation:1329764681 icd11.foundation -MONDO:0018305 chronic granulomatous disease oio:hasExactSynonym congenital dysphagocytosis congenital dysphagocytosis Congenital dysphagocytosis icd11.foundation:808756909 Functional neutrophil defects confirmed congenital dysphagocytosis icd11.foundation:808756909 icd11.foundation MONDO:0018307 neurodegeneration with brain iron accumulation oio:hasExactSynonym neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation icd11.foundation:440483530 Neurodegeneration with brain iron accumulation http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed neurodegeneration with brain iron accumulation icd11.foundation:440483530 icd11.foundation MONDO:0018309 Hirschsprung disease oio:hasExactSynonym Hirschsprung disease icd11.foundation:1772690306 Hirschsprung disease confirmed Hirschsprung disease icd11.foundation:1772690306 icd11.foundation MONDO:0018309 Hirschsprung disease oio:hasExactSynonym aganglionic megacolon aganglionic megacolon Aganglionic megacolon icd11.foundation:1772690306 Hirschsprung disease confirmed aganglionic megacolon icd11.foundation:1772690306 icd11.foundation @@ -122986,8 +119518,6 @@ MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym hepatocellular adenoma MONDO:0018903 sarcocystosis oio:hasExactSynonym sarcosporidiosis sarcosporidiosis Sarcosporidiosis icd11.foundation:261748740 Sarcocystosis confirmed sarcosporidiosis icd11.foundation:261748740 icd11.foundation MONDO:0018912 Cushing syndrome oio:hasExactSynonym Cushing syndrome icd11.foundation:1654321425 Cushing syndrome confirmed Cushing syndrome icd11.foundation:1654321425 icd11.foundation MONDO:0018912 Cushing syndrome oio:hasExactSynonym hyperadrenocorticism hyperadrenocorticism Hyperadrenocorticism icd11.foundation:1654321425 Cushing syndrome confirmed hyperadrenocorticism icd11.foundation:1654321425 icd11.foundation -MONDO:0018912 Cushing syndrome oio:hasExactSynonym pituitary basophilism icd11.foundation:380861892 Pituitary-dependent Cushing disease confirmed pituitary basophilism icd11.foundation:380861892 icd11.foundation -MONDO:0018912 Cushing syndrome oio:hasExactSynonym suprarenogenic syndrome icd11.foundation:380861892 Pituitary-dependent Cushing disease confirmed suprarenogenic syndrome icd11.foundation:380861892 icd11.foundation MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym postpartum cardiomyopathy icd11.foundation:1218807936 Cardiomyopathy in the puerperium confirmed postpartum cardiomyopathy icd11.foundation:1218807936 icd11.foundation MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome icd11.foundation:695796893 Meckel-Gruber syndrome confirmed Meckel-Gruber syndrome icd11.foundation:695796893 icd11.foundation MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym Sedlackova syndrome icd11.foundation:1868156761 CATCH 22 phenotype confirmed Sedlackova syndrome icd11.foundation:1868156761 icd11.foundation @@ -122998,7 +119528,6 @@ MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym Hemi MONDO:0018925 familial or sporadic hemiplegic migraine oio:hasExactSynonym hemiplegic migraine hemiplegic migraine Hemiplegic migraine icd11.foundation:1957063016 Hemiplegic migraine confirmed hemiplegic migraine icd11.foundation:1957063016 icd11.foundation MONDO:0018936 osteoblastoma oio:hasExactSynonym osteoblastoma osteoblastoma Osteoblastoma icd11.foundation:1948326341 Osteoblastoma confirmed osteoblastoma icd11.foundation:1948326341 icd11.foundation MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym Sanfilippo syndrome icd11.foundation:1477250013 Mucopolysaccharidosis type 3 confirmed Sanfilippo syndrome icd11.foundation:1477250013 icd11.foundation -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A confirmed heparan sulfate sulfatase deficiency icd11.foundation:182200345 icd11.foundation MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym Morquio syndrome icd11.foundation:2078241550 Mucopolysaccharidosis type 4 confirmed Morquio syndrome icd11.foundation:2078241550 icd11.foundation MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym mucopolysaccharidosis type 4 mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4 icd11.foundation:2078241550 Mucopolysaccharidosis type 4 confirmed mucopolysaccharidosis type 4 icd11.foundation:2078241550 icd11.foundation MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital myasthenic syndromes icd11.foundation:1515367530 Congenital myasthenic syndromes confirmed Congenital Myasthenic Syndromes icd11.foundation:1515367530 icd11.foundation @@ -123030,8 +119559,6 @@ MONDO:0018997 Noonan syndrome oio:hasExactSynonym Noonan syndrome icd11.found MONDO:0018998 Leber congenital amaurosis oio:hasExactSynonym Leber congenital amaurosis icd11.foundation:650490256 Leber congenital amaurosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Leber congenital amaurosis icd11.foundation:650490256 icd11.foundation MONDO:0019003 multiple endocrine neoplasia type 2 oio:hasExactSynonym multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 icd11.foundation:1837913809 Multiple endocrine neoplasia type 2 confirmed multiple endocrine neoplasia type 2 icd11.foundation:1837913809 icd11.foundation MONDO:0019005 nephronophthisis oio:hasExactSynonym nephronophthisis nephronophthisis Nephronophthisis icd11.foundation:158151813 Nephronophthisis confirmed nephronophthisis icd11.foundation:158151813 icd11.foundation -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease confirmed medullary cystic disease icd11.foundation:216863438 icd11.foundation -MONDO:0019005 nephronophthisis oio:hasExactSynonym medullary cystic kidney icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease confirmed medullary cystic kidney icd11.foundation:216863438 icd11.foundation MONDO:0019008 benign recurrent intrahepatic cholestasis oio:hasExactSynonym Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 Benign recurrent intrahepatic cholestasis confirmed Summerskill-Walshe-Tygstrup syndrome icd11.foundation:288945286 icd11.foundation MONDO:0019012 Carpenter syndrome oio:hasExactSynonym Carpenter syndrome icd11.foundation:2132713612 Carpenter syndrome confirmed Carpenter syndrome icd11.foundation:2132713612 icd11.foundation MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos icd11.foundation:1168696429 Omphalocele confirmed exomphalos icd11.foundation:1168696429 icd11.foundation @@ -123072,7 +119599,6 @@ MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency oi MONDO:0019147 myiasis oio:hasExactSynonym infestation by fly larvae infestation by fly larvae Infestation by fly larvae icd11.foundation:1367149207 Myiasis confirmed infestation by fly larvae icd11.foundation:1367149207 icd11.foundation MONDO:0019147 myiasis oio:hasExactSynonym infestation by maggots icd11.foundation:1367149207 Myiasis confirmed infestation by maggots icd11.foundation:1367149207 icd11.foundation MONDO:0019147 myiasis oio:hasExactSynonym maggot infestation maggot infestation Maggot infestation icd11.foundation:1367149207 Myiasis confirmed maggot infestation icd11.foundation:1367149207 icd11.foundation -MONDO:0019148 Wolman disease oio:hasExactSynonym acid esterase deficiency acid esterase deficiency Acid esterase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency confirmed acid esterase deficiency icd11.foundation:381622932 icd11.foundation MONDO:0019152 Oguchi disease oio:hasExactSynonym Oguchi disease icd11.foundation:1759055065 Oguchi disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Oguchi disease icd11.foundation:1759055065 icd11.foundation MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 confirmed acquired idiopathic sideroblastic anaemia icd11.foundation:1793160341 icd11.foundation MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym primary acquired sideroblastic anaemia icd11.foundation:1793160341 Refractory anaemia with ring sideroblasts http://purl.obolibrary.org/obo/OMO_0003005 confirmed primary acquired sideroblastic anaemia icd11.foundation:1793160341 icd11.foundation @@ -123110,13 +119636,10 @@ MONDO:0019260 adult neuronal ceroid lipofuscinosis oio:hasExactSynonym adult ne MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Hagberg-Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis confirmed Hagberg-Santavuori disease icd11.foundation:797123687 icd11.foundation MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis confirmed Santavuori disease icd11.foundation:797123687 icd11.foundation MONDO:0019261 infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym Santavuori-Haltia disease icd11.foundation:797123687 Infantile neuronal ceroid lipofuscinosis confirmed Santavuori-Haltia disease icd11.foundation:797123687 icd11.foundation -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym batten disease batten disease Batten disease icd11.foundation:1568332253 Neuronal ceroid lipofuscinosis confirmed batten disease icd11.foundation:1568332253 icd11.foundation MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym Spielmeyer-Vogt disease icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis confirmed Spielmeyer-Vogt disease icd11.foundation:1716107919 icd11.foundation MONDO:0019262 juvenile neuronal ceroid lipofuscinosis oio:hasExactSynonym juvenile neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis confirmed juvenile neuronal ceroid lipofuscinosis icd11.foundation:1716107919 icd11.foundation MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 oio:hasExactSynonym Schindler disease type 3 icd11.foundation:1639349183 Alpha-N-acetylgalactosaminidase deficiency type 3 confirmed Schindler disease type 3 icd11.foundation:1639349183 icd11.foundation MONDO:0019280 hypertrichosis oio:hasExactSynonym hypertrichosis hypertrichosis Hypertrichosis icd11.foundation:2042627850 Hypertrichosis confirmed hypertrichosis icd11.foundation:2042627850 icd11.foundation -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym HPS HPS hps icd11.foundation:582624609 Hantavirus pulmonary syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HPS icd11.foundation:582624609 icd11.foundation -MONDO:0019312 Hermansky-Pudlak syndrome oio:hasExactSynonym Hepatopulmonary Syndrome Hepatopulmonary Syndrome Hepatopulmonary syndrome icd11.foundation:866605228 Hepatopulmonary syndrome confirmed Hepatopulmonary Syndrome icd11.foundation:866605228 icd11.foundation MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis icd11.foundation:193128939 Diffuse cutaneous mastocytosis confirmed diffuse cutaneous mastocytosis icd11.foundation:193128939 icd11.foundation MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa confirmed urticaria pigmentosa icd11.foundation:245322245 icd11.foundation MONDO:0019323 pemphigus erythematosus oio:hasExactSynonym Senear-Usher syndrome icd11.foundation:399813106 Pemphigus erythematosus confirmed Senear-Usher syndrome icd11.foundation:399813106 icd11.foundation @@ -123167,12 +119690,10 @@ MONDO:0019403 congenital dyserythropoietic anemia oio:hasExactSynonym congenita MONDO:0019404 perineurioma oio:hasExactSynonym perineurioma perineurioma Perineurioma icd11.foundation:456459236 Perineurioma confirmed perineurioma icd11.foundation:456459236 icd11.foundation MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type oio:hasExactSynonym microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 Microcephalic osteodysplastic dysplasia, Saul-Wilson type confirmed microcephalic osteodysplastic dysplasia, Saul-Wilson type icd11.foundation:738688839 icd11.foundation MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic juvenile osteoporosis idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis icd11.foundation:183642011 Idiopathic juvenile osteoporosis confirmed idiopathic juvenile osteoporosis icd11.foundation:183642011 icd11.foundation -MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym idiopathic osteoporosis icd11.foundation:2113001430 Osteoporosis confirmed idiopathic osteoporosis icd11.foundation:2113001430 icd11.foundation MONDO:0019434 systemic-onset juvenile idiopathic arthritis oio:hasExactSynonym Still disease icd11.foundation:504387587 Juvenile systemic arthritis confirmed Still disease icd11.foundation:504387587 icd11.foundation MONDO:0019436 psoriasis-related juvenile idiopathic arthritis oio:hasExactSynonym juvenile psoriatic arthritis juvenile psoriatic arthritis Juvenile psoriatic arthritis icd11.foundation:1473955563 Juvenile psoriatic arthritis confirmed juvenile psoriatic arthritis icd11.foundation:1473955563 icd11.foundation MONDO:0019438 AL amyloidosis oio:hasExactSynonym primary amyloidosis primary amyloidosis Primary amyloidosis icd11.foundation:1061366491 AL amyloidosis confirmed primary amyloidosis icd11.foundation:1061366491 icd11.foundation MONDO:0019439 AA amyloidosis oio:hasExactSynonym secondary amyloidosis secondary amyloidosis Secondary amyloidosis icd11.foundation:570181034 AA amyloidosis confirmed secondary amyloidosis icd11.foundation:570181034 icd11.foundation -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym dialysis-related amyloidosis dialysis-related amyloidosis Dialysis-related amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis confirmed dialysis-related amyloidosis icd11.foundation:448754119 icd11.foundation MONDO:0019444 trichinellosis oio:hasExactSynonym trichinosis trichinosis Trichinosis icd11.foundation:284613639 Trichinosis confirmed trichinosis icd11.foundation:284613639 icd11.foundation MONDO:0019446 localized lichen myxedematosus oio:hasExactSynonym papular mucinosis papular mucinosis Papular mucinosis icd11.foundation:15830032 Lichen myxoedematosus confirmed papular mucinosis icd11.foundation:15830032 icd11.foundation MONDO:0019448 benign adult familial myoclonic epilepsy oio:hasExactSynonym benign adult familial myoclonus epilepsy benign adult familial myoclonus epilepsy Benign adult familial myoclonus epilepsy icd11.foundation:1036649329 Benign adult familial myoclonus epilepsy confirmed benign adult familial myoclonus epilepsy icd11.foundation:1036649329 icd11.foundation @@ -123191,14 +119712,12 @@ MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym intest MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 Subcutaneous panniculitis-like T-cell lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma icd11.foundation:1550338805 icd11.foundation MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma icd11.foundation:911785965 Histiocytic sarcoma confirmed histiocytic sarcoma icd11.foundation:911785965 icd11.foundation MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma icd11.foundation:588958190 Langerhans cell sarcoma confirmed Langerhans cell sarcoma icd11.foundation:588958190 icd11.foundation -MONDO:0019499 Turner syndrome oio:hasExactSynonym karyotype 45, X karyotype 45, X Karyotype 45, X icd11.foundation:95979116 Karyotype 45, X confirmed karyotype 45, X icd11.foundation:95979116 icd11.foundation MONDO:0019517 Waardenburg syndrome type 2 oio:hasExactSynonym Waardenburg syndrome type 2 icd11.foundation:746815303 Waardenburg syndrome type 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Waardenburg syndrome type 2 icd11.foundation:746815303 icd11.foundation MONDO:0019518 Waardenburg-Shah syndrome oio:hasExactSynonym Waardenburg-Shah syndrome icd11.foundation:1420151003 Waardenburg-Shah syndrome confirmed Waardenburg-Shah syndrome icd11.foundation:1420151003 icd11.foundation MONDO:0019524 Bartter syndrome type 4 oio:hasExactSynonym Bartter syndrome type 4 icd11.foundation:959024909 Bartter syndrome type 4 confirmed Bartter syndrome type 4 icd11.foundation:959024909 icd11.foundation MONDO:0019533 paroxysmal cold hemoglobinuria oio:hasExactSynonym Donath-Landsteiner syndrome icd11.foundation:715111132 Paroxysmal cold haemoglobinuria confirmed Donath-Landsteiner syndrome icd11.foundation:715111132 icd11.foundation MONDO:0019538 Gaisbock syndrome oio:hasExactSynonym stress erythrocytosis icd11.foundation:533704171 Gaisbock syndrome confirmed stress erythrocytosis icd11.foundation:533704171 icd11.foundation MONDO:0019547 Wells syndrome oio:hasExactSynonym eosinophilic cellulitis eosinophilic cellulitis Eosinophilic cellulitis icd11.foundation:1860796142 Eosinophilic cellulitis confirmed eosinophilic cellulitis icd11.foundation:1860796142 icd11.foundation -MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym peripheral neuropathy and optic atrophy peripheral neuropathy and optic atrophy Peripheral neuropathy and optic atrophy icd11.foundation:1149710475 Autosomal dominant optic atrophy plus syndrome confirmed peripheral neuropathy and optic atrophy icd11.foundation:1149710475 icd11.foundation MONDO:0019551 hereditary motor and sensory neuropathy type 6 oio:hasExactSynonym hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 Hereditary motor and sensory neuropathy type 6 confirmed hereditary motor and sensory neuropathy type 6 icd11.foundation:467894833 icd11.foundation MONDO:0019562 localized scleroderma oio:hasExactSynonym circumscribed scleroderma circumscribed scleroderma Circumscribed scleroderma icd11.foundation:1430740369 Plaque morphoea confirmed circumscribed scleroderma icd11.foundation:1430740369 icd11.foundation MONDO:0019569 Cockayne syndrome type 1 oio:hasExactSynonym Cockayne syndrome type 1 icd11.foundation:1271368066 Cockayne syndrome type 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Cockayne syndrome type 1 icd11.foundation:1271368066 icd11.foundation @@ -123207,7 +119726,6 @@ MONDO:0019600 xeroderma pigmentosum oio:hasExactSynonym atrophoderma pigmentosu MONDO:0019610 Zollinger-Ellison syndrome oio:hasExactSynonym Zollinger-Ellison syndrome icd11.foundation:375645550 Zollinger-Ellison syndrome confirmed Zollinger-Ellison syndrome icd11.foundation:375645550 icd11.foundation MONDO:0019611 TSH-secreting pituitary adenoma oio:hasExactSynonym thyrotroph adenoma thyrotroph adenoma Thyrotroph adenoma icd11.foundation:125504731 TSH-secreting pituitary adenoma confirmed thyrotroph adenoma icd11.foundation:125504731 icd11.foundation MONDO:0019613 non-functioning pituitary adenoma oio:hasExactSynonym non-functioning pituitary adenoma non-functioning pituitary adenoma Non-functioning pituitary adenoma icd11.foundation:1197752358 Non-secreting pituitary adenoma confirmed non-functioning pituitary adenoma icd11.foundation:1197752358 icd11.foundation -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym postpartum hypopituitarism icd11.foundation:768216194 Hypopituitarism confirmed postpartum hypopituitarism icd11.foundation:768216194 icd11.foundation MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioedema hereditary angioedema Hereditary angioedema icd11.foundation:795969334 Hereditary angioedema confirmed hereditary angioedema icd11.foundation:795969334 icd11.foundation MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioneurotic oedema hereditary angioneurotic oedema Hereditary angioneurotic oedema icd11.foundation:795969334 Hereditary angioedema http://purl.obolibrary.org/obo/OMO_0003005 confirmed hereditary angioneurotic oedema icd11.foundation:795969334 icd11.foundation MONDO:0019624 acquired angioedema oio:hasExactSynonym acquired angioedema acquired angioedema Acquired angioedema icd11.foundation:1078767412 Acquired angioedema confirmed acquired angioedema icd11.foundation:1078767412 icd11.foundation @@ -123253,7 +119771,6 @@ MONDO:0019975 pellagra oio:hasExactSynonym pellagra pellagra Pellagra icd11.fou MONDO:0019993 congenital renal artery stenosis oio:hasExactSynonym congenital renovascular hypoplasia congenital renovascular hypoplasia Congenital renovascular hypoplasia icd11.foundation:856359002 Congenital renal artery stenosis confirmed congenital renovascular hypoplasia icd11.foundation:856359002 icd11.foundation MONDO:0020074 progressive myoclonus epilepsy oio:hasExactSynonym progressive myoclonic epilepsy progressive myoclonic epilepsy Progressive myoclonic epilepsy icd11.foundation:173613583 Progressive myoclonic epilepsy confirmed progressive myoclonic epilepsy icd11.foundation:173613583 icd11.foundation MONDO:0020087 hereditary lipodystrophy oio:hasExactSynonym genetic lipodystrophy genetic lipodystrophy Genetic lipodystrophy icd11.foundation:1166232738 Genetic lipodystrophy confirmed genetic lipodystrophy icd11.foundation:1166232738 icd11.foundation -MONDO:0020108 autoimmune hemolytic anemia oio:hasExactSynonym autoimmune haemolytic anaemia icd11.foundation:880772122 Autoimmune haemolytic anaemia, warm type http://purl.obolibrary.org/obo/OMO_0003005 confirmed autoimmune haemolytic anaemia icd11.foundation:880772122 icd11.foundation MONDO:0020110 pulmonary agenesis oio:hasExactSynonym congenital absence of lung icd11.foundation:134836096 Agenesis of lung confirmed congenital absence of lung icd11.foundation:134836096 icd11.foundation MONDO:0020128 motor neuron disorder oio:hasExactSynonym anterior horn cell disease icd11.foundation:661720689 Motor neuron disease confirmed anterior horn cell disease icd11.foundation:661720689 icd11.foundation MONDO:0020128 motor neuron disorder oio:hasExactSynonym motor neuron disease motor neuron disease Motor neuron disease icd11.foundation:661720689 Motor neuron disease confirmed motor neuron disease icd11.foundation:661720689 icd11.foundation @@ -123289,7 +119806,6 @@ MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroe MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma icd11.foundation:1377407737 Eosinophilic granuloma confirmed eosinophilic granuloma icd11.foundation:1377407737 icd11.foundation MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym transient neonatal diabetes mellitus transient neonatal diabetes mellitus Transient neonatal diabetes mellitus icd11.foundation:1596856936 Transient neonatal diabetes mellitus confirmed transient neonatal diabetes mellitus icd11.foundation:1596856936 icd11.foundation MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic Cushing syndrome ectopic Cushing syndrome Ectopic Cushing syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome confirmed ectopic Cushing syndrome icd11.foundation:1646144829 icd11.foundation -MONDO:0020528 ACTH-dependent Cushing syndrome oio:hasExactSynonym pituitary-dependent Cushing disease pituitary-dependent Cushing disease Pituitary-dependent Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease confirmed pituitary-dependent Cushing disease icd11.foundation:380861892 icd11.foundation MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency oio:hasExactSynonym long chain acyl-CoA dehydrogenase deficiency long chain acyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 Long chain acyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed long chain acyl-CoA dehydrogenase deficiency icd11.foundation:692829041 icd11.foundation MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym sodoku sodoku Sodoku icd11.foundation:1104357482 Spirillosis confirmed sodoku icd11.foundation:1104357482 icd11.foundation MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym Haverhill fever icd11.foundation:614000128 Streptobacillosis confirmed Haverhill fever icd11.foundation:614000128 icd11.foundation @@ -123553,49 +120069,25 @@ MONDO:0000299 thelaziasis oio:hasExactSynonym oio:hasRelatedSynonym verminous op MONDO:0000303 conidiobolomycosis oio:hasExactSynonym oio:hasRelatedSynonym rhinoentomophthoromycosis rhinoentomophthoromycosis Rhinoentomophthoromycosis icd11.foundation:1326582778 Conidiobolomycosis updated rhinoentomophthoromycosis icd11.foundation:1326582778 icd11.foundation MONDO:0000330 endemic typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:0050481 updated shop typhus icd11.foundation:4659958 icd11.foundation MONDO:0000453 short QT syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial short QT syndrome familial short QT syndrome Familial short QT syndrome icd11.foundation:553392015 Short QT syndrome Orphanet:51083 updated familial short QT syndrome icd11.foundation:553392015 icd11.foundation -MONDO:0000809 purpura fulminans oio:hasExactSynonym oio:hasRelatedSynonym fibrinolytic purpura fibrinolytic purpura Fibrinolytic purpura icd11.foundation:1622289887 Disseminated intravascular coagulation ORCID:0000-0002-6601-2165 updated fibrinolytic purpura icd11.foundation:1622289887 icd11.foundation MONDO:0001024 pneumonic plague oio:hasExactSynonym oio:hasNarrowSynonym primary pneumonic plague icd11.foundation:1983098110 Pneumonic plague DOID:10398 updated primary pneumonic plague icd11.foundation:1983098110 icd11.foundation -MONDO:0001046 imperforate anus oio:hasExactSynonym oio:hasRelatedSynonym anorectal malformations anorectal malformations Anorectal malformations icd11.foundation:942572025 Anorectal malformations GARD:0006769 updated anorectal malformations icd11.foundation:942572025 icd11.foundation MONDO:0001078 tropical sprue oio:hasExactSynonym oio:hasRelatedSynonym tropical enteropathy icd11.foundation:316377284 Tropical sprue GARD:0007824 updated tropical enteropathy icd11.foundation:316377284 icd11.foundation MONDO:0001099 lactocele oio:hasExactSynonym oio:hasRelatedSynonym lacteal cyst icd11.foundation:1987155556 Lactocele GARD:0008401 updated lacteal cyst icd11.foundation:1987155556 icd11.foundation MONDO:0001103 giardiasis oio:hasExactSynonym oio:hasRelatedSynonym lambliasis icd11.foundation:433310499 Giardiasis MESH:D005873 updated lambliasis icd11.foundation:433310499 icd11.foundation MONDO:0001109 petrositis oio:hasExactSynonym oio:hasRelatedSynonym inflammation of petrous bone icd11.foundation:716546173 Petrositis DOID:10755 updated inflammation of petrous bone icd11.foundation:716546173 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym classical typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 updated classical typhus icd11.foundation:295798687 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym epidemic louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 updated epidemic louse-borne typhus icd11.foundation:295798687 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym epidemic louse-borne typhus fever due to Rickettsia prowazekii epidemic louse-borne typhus fever due to Rickettsia prowazekii Epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 updated epidemic louse-borne typhus fever due to Rickettsia prowazekii icd11.foundation:295798687 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym famine fever icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 updated famine fever icd11.foundation:295798687 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym louse-borne typhus icd11.foundation:295798687 Epidemic louse-borne typhus fever due to Rickettsia prowazekii DOID:11256 updated louse-borne typhus icd11.foundation:295798687 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Mexican typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated Mexican typhus icd11.foundation:4659958 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym Urban typhus Urban typhus urban typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated Urban typhus icd11.foundation:4659958 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasNarrowSynonym endemic typhus fever icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated endemic typhus fever icd11.foundation:4659958 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym flea-borne typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated flea-borne typhus icd11.foundation:4659958 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym murine typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated murine typhus icd11.foundation:4659958 icd11.foundation -MONDO:0001246 typhus oio:hasExactSynonym oio:hasRelatedSynonym shop typhus icd11.foundation:4659958 Typhus fever due to Rickettsia typhi DOID:11256 updated shop typhus icd11.foundation:4659958 icd11.foundation MONDO:0001260 cercarial dermatitis oio:hasExactSynonym oio:hasRelatedSynonym swimmer's itch swimmer's itch Swimmer's itch icd11.foundation:648519873 Cercarial dermatitis GARD:0009747 updated swimmer's itch icd11.foundation:648519873 icd11.foundation MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym Posterior Uveitis Posterior Uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis NORD:1601 updated Posterior Uveitis icd11.foundation:1884626736 icd11.foundation MONDO:0001280 choroiditis oio:hasExactSynonym oio:hasRelatedSynonym posterior uveitis posterior uveitis Posterior uveitis icd11.foundation:1884626736 Choroiditis MONDO:ambiguous, NCIT:C35111 updated posterior uveitis icd11.foundation:1884626736 icd11.foundation MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym American trypanosomiasis icd11.foundation:1365585570 Chagas disease DOID:12140 updated American trypanosomiasis icd11.foundation:1365585570 icd11.foundation MONDO:0001444 Chagas disease oio:hasExactSynonym oio:hasRelatedSynonym south American trypanosomiasis south American trypanosomiasis South American trypanosomiasis icd11.foundation:1365585570 Chagas disease updated south American trypanosomiasis icd11.foundation:1365585570 icd11.foundation MONDO:0001449 lymphocytic choriomeningitis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic meningitis icd11.foundation:307264938 Lymphocytic choriomeningitis DOID:12155 updated lymphocytic meningitis icd11.foundation:307264938 icd11.foundation -MONDO:0001595 choreatic disease oio:hasExactSynonym oio:hasRelatedSynonym hereditary chorea icd11.foundation:2132180242 Huntington disease DOID:12859 updated hereditary chorea icd11.foundation:2132180242 icd11.foundation -MONDO:0001838 acute gonococcal prostatitis oio:hasExactSynonym oio:hasBroadSynonym gonococcal prostatitis gonococcal prostatitis Gonococcal prostatitis icd11.foundation:1032655599 Gonococcal prostatitis DOID:13943 updated gonococcal prostatitis icd11.foundation:1032655599 icd11.foundation -MONDO:0001881 toxic shock syndrome oio:hasExactSynonym oio:hasRelatedSynonym staphylococcal toxic shock syndrome staphylococcal toxic shock syndrome Staphylococcal toxic shock syndrome icd11.foundation:788554020 Staphylococcal toxic shock syndrome GARD:0009560 updated staphylococcal toxic shock syndrome icd11.foundation:788554020 icd11.foundation MONDO:0002010 FG syndrome oio:hasExactSynonym oio:hasNarrowSynonym Opitz-Kaveggia syndrome icd11.foundation:156523187 FG syndrome GARD:0002317, DOID:14711 updated Opitz-Kaveggia syndrome icd11.foundation:156523187 icd11.foundation -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasRelatedSynonym acalculous cholecystitis icd11.foundation:2071113448 Acute cholecystitis GARD:0000030 updated acalculous cholecystitis icd11.foundation:2071113448 icd11.foundation -MONDO:0002155 cholecystitis oio:hasExactSynonym oio:hasNarrowSynonym acute cholecystitis acute cholecystitis Acute cholecystitis icd11.foundation:2071113448 Acute cholecystitis DOID:1949, NCIT:C35152, ICD9CM:575.0 updated acute cholecystitis icd11.foundation:2071113448 icd11.foundation -MONDO:0002204 transient arthritis oio:hasExactSynonym oio:hasBroadSynonym transient arthropathy transient arthropathy Transient arthropathy icd11.foundation:404860910 Transient arthropathy NCIT:C35761 updated transient arthropathy icd11.foundation:404860910 icd11.foundation -MONDO:0003781 bronchitis oio:hasExactSynonym oio:hasNarrowSynonym chronic bronchitis chronic bronchitis Chronic bronchitis icd11.foundation:290835130 Chronic bronchitis DOID:6132 updated chronic bronchitis icd11.foundation:290835130 icd11.foundation -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasRelatedSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 updated fibrodysplasia ossificans progressiva icd11.foundation:2102976705 icd11.foundation -MONDO:0003964 myositis ossificans oio:hasExactSynonym oio:hasNarrowSynonym progressive myositis ossificans icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva MESH:D009221 updated progressive myositis ossificans icd11.foundation:2102976705 icd11.foundation MONDO:0004651 smallpox oio:hasExactSynonym oio:hasRelatedSynonym Variola icd11.foundation:2054716425 Smallpox GARD:0007444 updated Variola icd11.foundation:2054716425 icd11.foundation MONDO:0004678 dermatophytosis oio:hasExactSynonym oio:hasRelatedSynonym ringworm ringworm Ringworm icd11.foundation:1802307036 Dermatophytosis Wikipedia:Dermatophytosis updated ringworm icd11.foundation:1802307036 icd11.foundation MONDO:0004757 chronic ethmoidal sinusitis oio:hasExactSynonym oio:hasRelatedSynonym chronic ethmoiditis icd11.foundation:1076459084 Chronic ethmoidal sinusitis DOID:9312 updated chronic ethmoiditis icd11.foundation:1076459084 icd11.foundation -MONDO:0004907 alopecia oio:hasExactSynonym oio:hasNarrowSynonym alopecia areata alopecia areata Alopecia areata icd11.foundation:65720611 Alopecia areata NCIT:C50575 updated alopecia areata icd11.foundation:65720611 icd11.foundation MONDO:0004910 mitral valve prolapse oio:hasExactSynonym oio:hasRelatedSynonym systolic click-murmur syndrome icd11.foundation:1085590500 Mitral valve prolapse DOID:988 updated systolic click-murmur syndrome icd11.foundation:1085590500 icd11.foundation MONDO:0004966 gastritis oio:hasExactSynonym oio:hasNarrowSynonym acute gastric mucosal erosion icd11.foundation:1871672644 Gastritis DOID:4029 updated acute gastric mucosal erosion icd11.foundation:1871672644 icd11.foundation MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 updated congestive cardiomyopathy icd11.foundation:1916294688 icd11.foundation MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym primary dilated cardiomyopathy icd11.foundation:1916294688 Dilated cardiomyopathy DOID:12930 updated primary dilated cardiomyopathy icd11.foundation:1916294688 icd11.foundation -MONDO:0005090 schizophrenia oio:hasExactSynonym oio:hasRelatedSynonym schizoaffective disorder schizoaffective disorder Schizoaffective disorder icd11.foundation:106339515 Schizoaffective disorder OMIM:181500 updated schizoaffective disorder icd11.foundation:106339515 icd11.foundation MONDO:0005152 hypopituitarism oio:hasExactSynonym oio:hasRelatedSynonym pituitary hypofunction icd11.foundation:768216194 Hypopituitarism DOID:9406 updated pituitary hypofunction icd11.foundation:768216194 icd11.foundation MONDO:0005249 pneumonia oio:hasExactSynonym oio:hasNarrowSynonym acute pneumonia icd11.foundation:142052508 Pneumonia DOID:552 updated acute pneumonia icd11.foundation:142052508 icd11.foundation MONDO:0005300 chronic kidney disease oio:hasExactSynonym oio:hasRelatedSynonym chronic renal insufficiency chronic renal insufficiency Chronic renal insufficiency icd11.foundation:412389819 Chronic kidney disease NCIT:C80078 updated chronic renal insufficiency icd11.foundation:412389819 icd11.foundation @@ -123605,7 +120097,6 @@ MONDO:0005313 necrotizing enterocolitis oio:hasExactSynonym oio:hasNarrowSynonym MONDO:0005498 botulism oio:hasExactSynonym oio:hasNarrowSynonym intoxication with Clostridium botulinum toxin intoxication with Clostridium botulinum toxin intoxication with clostridium botulinum toxin icd11.foundation:78422942 Botulism DOID:11976 updated intoxication with Clostridium botulinum toxin icd11.foundation:78422942 icd11.foundation MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasRelatedSynonym solitary myeloma solitary myeloma Solitary myeloma icd11.foundation:1811140613 Solitary plasmacytoma DOID:3721 updated solitary myeloma icd11.foundation:1811140613 icd11.foundation MONDO:0005615 plasmacytoma oio:hasExactSynonym oio:hasNarrowSynonym solitary plasmacytoma solitary plasmacytoma Solitary plasmacytoma icd11.foundation:1811140613 Solitary plasmacytoma NCIT:C6932, DOID:3721, Orphanet:86855 updated solitary plasmacytoma icd11.foundation:1811140613 icd11.foundation -MONDO:0005638 agnosia oio:hasExactSynonym oio:hasRelatedSynonym dyspraxia syndrome icd11.foundation:986651951 Apraxia DOID:4090 updated dyspraxia syndrome icd11.foundation:986651951 icd11.foundation MONDO:0005654 ascariasis oio:hasExactSynonym oio:hasRelatedSynonym Ascaris lumbricoides infection Ascaris lumbricoides infection ascaris lumbricoides infection icd11.foundation:17842540 Ascariasis DOID:456 updated Ascaris lumbricoides infection icd11.foundation:17842540 icd11.foundation MONDO:0005662 balantidiasis oio:hasExactSynonym oio:hasRelatedSynonym Balantidium coli infection Balantidium coli infection balantidium coli infection icd11.foundation:2090337975 Infections due to Balantidium coli GARD:0000809 updated Balantidium coli infection icd11.foundation:2090337975 icd11.foundation MONDO:0005683 brucellosis oio:hasExactSynonym oio:hasRelatedSynonym Malta fever icd11.foundation:730510331 Brucellosis DOID:11077 updated Malta fever icd11.foundation:730510331 icd11.foundation @@ -123620,17 +120111,13 @@ MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym mud fever MONDO:0005825 leptospirosis oio:hasExactSynonym oio:hasRelatedSynonym swamp fever icd11.foundation:751399056 Leptospirosis GARD:0007881 updated swamp fever icd11.foundation:751399056 icd11.foundation MONDO:0005844 chalazion oio:hasExactSynonym oio:hasRelatedSynonym Meibomian cyst icd11.foundation:777918741 Chalazion MESH:D017043 updated Meibomian cyst icd11.foundation:777918741 icd11.foundation MONDO:0005846 microsporidiosis oio:hasExactSynonym oio:hasRelatedSynonym Microsporidiasis Microsporidiasis microsporidiasis icd11.foundation:1021483422 Microsporidiosis GARD:0003655 updated Microsporidiasis icd11.foundation:1021483422 icd11.foundation -MONDO:0005894 paracoccidioidomycosis oio:hasExactSynonym oio:hasRelatedSynonym lobo disease lobo disease Lobo disease icd11.foundation:566562143 Lobomycosis GARD:0007323 updated lobo disease icd11.foundation:566562143 icd11.foundation MONDO:0005895 paragonimiasis oio:hasExactSynonym oio:hasRelatedSynonym Paragonimus westermani infection Paragonimus westermani infection paragonimus westermani infection icd11.foundation:1422824299 Paragonimiasis GARD:0009815 updated Paragonimus westermani infection icd11.foundation:1422824299 icd11.foundation MONDO:0005915 pityriasis versicolor oio:hasExactSynonym oio:hasRelatedSynonym tinea versicolor tinea versicolor Tinea versicolor icd11.foundation:67108853 Pityriasis versicolor MESH:D014010 updated tinea versicolor icd11.foundation:67108853 icd11.foundation MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym trichocephaliasis trichocephaliasis Trichocephaliasis icd11.foundation:422746556 Trichuriasis GARD:0010720 updated trichocephaliasis icd11.foundation:422746556 icd11.foundation MONDO:0005996 trichuriasis oio:hasExactSynonym oio:hasRelatedSynonym whipworm infection icd11.foundation:422746556 Trichuriasis GARD:0010720 updated whipworm infection icd11.foundation:422746556 icd11.foundation MONDO:0006005 Venezuelan equine encephalitis oio:hasExactSynonym oio:hasRelatedSynonym Venezuelan equine fever icd11.foundation:608978790 Venezuelan equine encephalitis DOID:9584, ICD9CM:066.2 updated Venezuelan equine fever icd11.foundation:608978790 icd11.foundation -MONDO:0006502 acute respiratory distress syndrome oio:hasExactSynonym oio:hasRelatedSynonym non-cardiogenic pulmonary oedema icd11.foundation:1466842111 Adult acute respiratory distress syndrome http://purl.obolibrary.org/obo/OMO_0003005 updated non-cardiogenic pulmonary oedema icd11.foundation:1466842111 icd11.foundation MONDO:0006572 lichen planus oio:hasExactSynonym oio:hasRelatedSynonym ruber planus icd11.foundation:1402978031 Lichen planus updated ruber planus icd11.foundation:1402978031 icd11.foundation -MONDO:0006581 miliaria rubra oio:hasExactSynonym oio:hasRelatedSynonym miliaria crystallina miliaria crystallina Miliaria crystallina icd11.foundation:796835029 Miliaria crystallina DOID:11153 updated miliaria crystallina icd11.foundation:796835029 icd11.foundation MONDO:0006651 anterior uveitis oio:hasExactSynonym oio:hasNarrowSynonym iridocyclitis icd11.foundation:908233081 Anterior uveitis Orphanet:280886 updated iridocyclitis icd11.foundation:908233081 icd11.foundation -MONDO:0006786 hepatic vein thrombosis oio:hasExactSynonym oio:hasRelatedSynonym Budd-Chiari syndrome icd11.foundation:1300118676 Budd-Chiari syndrome DOID:11512 updated Budd-Chiari syndrome icd11.foundation:1300118676 icd11.foundation MONDO:0006827 lateral medullary syndrome oio:hasExactSynonym oio:hasRelatedSynonym Lateral medullary syndrome icd11.foundation:1606151456 Lateral medullary syndrome GARD:0009263 updated Lateral medullary syndrome icd11.foundation:1606151456 icd11.foundation MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym oio:hasRelatedSynonym meconium inhalation icd11.foundation:872221482 Neonatal aspiration of meconium MESH:D008471 updated meconium inhalation icd11.foundation:872221482 icd11.foundation MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma icd11.foundation:1988933820 Myeloid sarcoma DOID:8683, NCIT:C35815, Orphanet:86850 updated granulocytic sarcoma icd11.foundation:1988933820 icd11.foundation @@ -123639,24 +120126,16 @@ MONDO:0007032 prune belly syndrome oio:hasExactSynonym oio:hasRelatedSynonym eag MONDO:0007037 Achondroplasia oio:hasExactSynonym oio:hasRelatedSynonym Achondroplastic dwarfism Achondroplastic dwarfism achondroplastic dwarfism icd11.foundation:24224082 Achondroplasia GARD:0008173 updated Achondroplastic dwarfism icd11.foundation:24224082 icd11.foundation MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, central type neurofibromatosis, central type Neurofibromatosis, central type icd11.foundation:14808714 Neurofibromatosis type 2 OMIM:101000 updated neurofibromatosis, central type icd11.foundation:14808714 icd11.foundation MONDO:0007072 ADULT syndrome oio:hasExactSynonym oio:hasRelatedSynonym acro-dermato-ungual-lacrimal-Tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome Acro-dermato-ungual-lacrimal-tooth syndrome icd11.foundation:1445741645 ADULT syndrome OMIM:103285 updated acro-dermato-ungual-lacrimal-Tooth syndrome icd11.foundation:1445741645 icd11.foundation -MONDO:0007130 congenital total pulmonary venous return anomaly oio:hasExactSynonym oio:hasRelatedSynonym scimitar syndrome scimitar syndrome Scimitar syndrome icd11.foundation:1321054364 Scimitar syndrome DOID:4297 updated scimitar syndrome icd11.foundation:1321054364 icd11.foundation MONDO:0007176 helicoid peripapillary chorioretinal degeneration oio:hasExactSynonym oio:hasRelatedSynonym SVEINSSON chorioretinal atrophy SVEINSSON chorioretinal atrophy Sveinsson chorioretinal atrophy icd11.foundation:896652469 Helicoid peripapillary chorioretinal degeneration MONDO:Lexical, OMIM:108985 updated SVEINSSON chorioretinal atrophy icd11.foundation:896652469 icd11.foundation MONDO:0007239 epidermolytic ichthyosis oio:hasExactSynonym oio:hasRelatedSynonym congenital bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma Congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 Epidermolytic ichthyosis GARD:0001039 updated congenital bullous ichthyosiform erythroderma icd11.foundation:1183730789 icd11.foundation -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hepatoblastoma hepatoblastoma Hepatoblastoma icd11.foundation:1556608523 Hepatoblastoma OMIM:114550 updated hepatoblastoma icd11.foundation:1556608523 icd11.foundation MONDO:0007301 cerebrocostomandibular syndrome oio:hasExactSynonym oio:hasRelatedSynonym CEREBROCOSTOMANDIBULAR syndrome CEREBROCOSTOMANDIBULAR syndrome Cerebrocostomandibular syndrome icd11.foundation:1475063064 Cerebrocostomandibular syndrome OMIM:117650 updated CEREBROCOSTOMANDIBULAR syndrome icd11.foundation:1475063064 icd11.foundation -MONDO:0007334 autosomal dominant popliteal pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym popliteal pterygium syndrome popliteal pterygium syndrome Popliteal pterygium syndrome icd11.foundation:543218573 Popliteal pterygium syndrome MONDO:Lexical, OMIM:119500 updated popliteal pterygium syndrome icd11.foundation:543218573 icd11.foundation MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta icd11.foundation:1524185114 Coarctation of aorta OMIM:120000 updated coarctation of aorta icd11.foundation:1524185114 icd11.foundation MONDO:0007354 coloboma of optic nerve oio:hasExactSynonym oio:hasRelatedSynonym coloboma of optic disc coloboma of optic disc Coloboma of optic disc icd11.foundation:592278969 Coloboma of optic disc http://purl.obolibrary.org/obo/OMO_0003005 updated coloboma of optic disc icd11.foundation:592278969 icd11.foundation -MONDO:0007369 hereditary coproporphyria oio:hasExactSynonym oio:hasRelatedSynonym Harderoporphyria icd11.foundation:1664486132 Harderoporphyria OMIM:121300 updated Harderoporphyria icd11.foundation:1664486132 icd11.foundation MONDO:0007403 inherited Creutzfeldt-Jakob disease oio:hasExactSynonym oio:hasRelatedSynonym Creutzfeldt-Jakob disease icd11.foundation:607607042 Genetic Creutzfeldt-Jakob disease MONDO:Lexical, OMIM:123400 updated Creutzfeldt-Jakob disease icd11.foundation:607607042 icd11.foundation MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym 5p minus syndrome icd11.foundation:620584190 Cri-du-chat syndrome GARD:0006213 updated 5p minus syndrome icd11.foundation:620584190 icd11.foundation MONDO:0007404 Cri-du-chat syndrome oio:hasExactSynonym oio:hasRelatedSynonym Cat Cry syndrome Cat Cry syndrome cat cry syndrome icd11.foundation:620584190 Cri-du-chat syndrome OMIM:123450 updated Cat Cry syndrome icd11.foundation:620584190 icd11.foundation MONDO:0007405 Crouzon syndrome oio:hasExactSynonym oio:hasRelatedSynonym Crouzon disease icd11.foundation:1535725821 Crouzon disease GARD:0006206 updated Crouzon disease icd11.foundation:1535725821 icd11.foundation -MONDO:0007416 Balkan nephropathy oio:hasExactSynonym oio:hasRelatedSynonym nephropathia epidemica nephropathia epidemica Nephropathia epidemica icd11.foundation:1059069619 Haemorrhagic fever with renal syndrome OMIM:124100 updated nephropathia epidemica icd11.foundation:1059069619 icd11.foundation -MONDO:0007450 neurohypophyseal diabetes insipidus oio:hasExactSynonym oio:hasRelatedSynonym neurogenic diabetes insipidus icd11.foundation:1009553897 Central diabetes insipidus NCIT:C84933 updated neurogenic diabetes insipidus icd11.foundation:1009553897 icd11.foundation MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym oio:hasRelatedSynonym myositis ossificans progressiva myositis ossificans progressiva Myositis ossificans progressiva icd11.foundation:2102976705 Fibrodysplasia ossificans progressiva Orphanet:337, DOID:13374 updated myositis ossificans progressiva icd11.foundation:2102976705 icd11.foundation -MONDO:0007614 congenital fibrosis of extraocular muscles oio:hasExactSynonym oio:hasNarrowSynonym Tukel syndrome icd11.foundation:2132105652 Tukel syndrome DOID:0080143 updated Tukel syndrome icd11.foundation:2132105652 icd11.foundation -MONDO:0007639 fundus albipunctatus oio:hasExactSynonym oio:hasBroadSynonym retinitis punctata albescens retinitis punctata albescens Retinitis punctata albescens icd11.foundation:567796529 Retinitis punctata albescens DOID:11105, OMIM:136880 updated retinitis punctata albescens icd11.foundation:567796529 icd11.foundation MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Gilles de la Tourette syndrome icd11.foundation:119340957 Tourette syndrome Orphanet:856, MONDO:Lexical, OMIM:137580 updated Gilles de la Tourette syndrome icd11.foundation:119340957 icd11.foundation MONDO:0007661 Tourette syndrome oio:hasExactSynonym oio:hasRelatedSynonym Tourette disorder icd11.foundation:119340957 Tourette syndrome OMIM:137580 updated Tourette disorder icd11.foundation:119340957 icd11.foundation MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym Hashimoto struma Hashimoto struma hashimoto struma icd11.foundation:972507934 Hashimoto thyroiditis OMIM:140300, MESH:D050031 updated Hashimoto struma icd11.foundation:972507934 icd11.foundation @@ -123664,8 +120143,6 @@ MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymp MONDO:0007713 clonic hemifacial spasm oio:hasExactSynonym oio:hasRelatedSynonym hemifacial spasm hemifacial spasm Hemifacial spasm icd11.foundation:353312397 Hemifacial spasm Orphanet:221083 updated hemifacial spasm icd11.foundation:353312397 icd11.foundation MONDO:0007737 humeroradial synostosis oio:hasExactSynonym oio:hasRelatedSynonym humero-radial synostosis humero-radial synostosis Humero-radial synostosis icd11.foundation:518723993 Humero-radial synostosis Orphanet:3265 updated humero-radial synostosis icd11.foundation:518723993 icd11.foundation MONDO:0007854 keratolytic winter erythema oio:hasExactSynonym oio:hasRelatedSynonym keratolytic WINTER erythema keratolytic WINTER erythema Keratolytic winter erythema icd11.foundation:1491245207 Keratolytic winter erythema OMIM:148370 updated keratolytic WINTER erythema icd11.foundation:1491245207 icd11.foundation -MONDO:0007927 congenital macroglossia oio:hasExactSynonym oio:hasRelatedSynonym macroglossia macroglossia Macroglossia icd11.foundation:670519908 Macroglossia OMIM:153630 updated macroglossia icd11.foundation:670519908 icd11.foundation -MONDO:0007950 mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa icd11.foundation:245322245 Urticaria pigmentosa OMIM:154800 updated urticaria pigmentosa icd11.foundation:245322245 icd11.foundation MONDO:0007979 metachondromatosis oio:hasExactSynonym oio:hasRelatedSynonym METACHONDROMATOSIS METACHONDROMATOSIS Metachondromatosis icd11.foundation:1342578560 Metachondromatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:156250 updated METACHONDROMATOSIS icd11.foundation:1342578560 icd11.foundation MONDO:0008007 tooth ankylosis oio:hasExactSynonym oio:hasRelatedSynonym dental ankylosis dental ankylosis Dental ankylosis icd11.foundation:2066427602 Ankylosis of teeth OMIM:157950 updated dental ankylosis icd11.foundation:2066427602 icd11.foundation MONDO:0008018 Muir-Torre syndrome oio:hasExactSynonym oio:hasRelatedSynonym MUIR-Torre syndrome MUIR-Torre syndrome Muir-Torre syndrome icd11.foundation:229304403 Muir-Torre syndrome OMIM:158320 updated MUIR-Torre syndrome icd11.foundation:229304403 icd11.foundation @@ -123673,7 +120150,6 @@ MONDO:0008054 juvenile dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome oio:hasExactSynonym oio:hasRelatedSynonym NAEGELI-Franceschetti-Jadassohn syndrome NAEGELI-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 Naegeli-Franceschetti-Jadassohn syndrome OMIM:161000 updated NAEGELI-Franceschetti-Jadassohn syndrome icd11.foundation:352035640 icd11.foundation MONDO:0008151 gnathodiaphyseal dysplasia oio:hasExactSynonym oio:hasRelatedSynonym GNATHODIAPHYSEAL dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal dysplasia icd11.foundation:1984860886 Gnathodiaphyseal dysplasia OMIM:166260 updated GNATHODIAPHYSEAL dysplasia icd11.foundation:1984860886 icd11.foundation MONDO:0008157 Buschke-Ollendorff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Dermatoosteopoikilosis icd11.foundation:1556522143 Buschke-Ollendorff syndrome OMIM:166700 updated Dermatoosteopoikilosis icd11.foundation:1556522143 icd11.foundation -MONDO:0008165 southeast Asian ovalocytosis oio:hasExactSynonym oio:hasBroadSynonym hereditary ovalocytosis icd11.foundation:679955609 Hereditary elliptocytosis Orphanet:98868 updated hereditary ovalocytosis icd11.foundation:679955609 icd11.foundation MONDO:0008195 paramyotonia congenita of Von Eulenburg oio:hasExactSynonym oio:hasRelatedSynonym Eulenburg disease icd11.foundation:1740060527 Paramyotonia congenita GARD:0007325 updated Eulenburg disease icd11.foundation:1740060527 icd11.foundation MONDO:0008218 Hailey-Hailey disease oio:hasExactSynonym oio:hasRelatedSynonym benign familial pemphigus benign familial pemphigus Benign familial pemphigus icd11.foundation:818400628 Hailey-Hailey disease GARD:0006559 updated benign familial pemphigus icd11.foundation:818400628 icd11.foundation MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym KINDLER syndrome KINDLER syndrome Kindler syndrome icd11.foundation:726317303 Kindler syndrome OMIM:173650 updated KINDLER syndrome icd11.foundation:726317303 icd11.foundation @@ -123681,18 +120157,13 @@ MONDO:0008260 Kindler syndrome oio:hasExactSynonym oio:hasRelatedSynonym bullous MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 updated medullary cystic disease icd11.foundation:216863438 icd11.foundation MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym medullary cystic kidney disease icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease GARD:0010801 updated medullary cystic kidney disease icd11.foundation:216863438 icd11.foundation MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia oio:hasExactSynonym oio:hasRelatedSynonym MCKD MCKD mckd icd11.foundation:216863438 Autosomal dominant tubulointerstitial disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:174000, GARD:0010801 updated MCKD icd11.foundation:216863438 icd11.foundation -MONDO:0008274 polyostotic fibrous dysplasia oio:hasExactSynonym oio:hasBroadSynonym fibrous dysplasia of bone fibrous dysplasia of bone Fibrous dysplasia of bone icd11.foundation:1704766818 Fibrous dysplasia of bone NCIT:C34609 updated fibrous dysplasia of bone icd11.foundation:1704766818 icd11.foundation MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym hydroxymethylbilane synthase deficiency hydroxymethylbilane synthase deficiency Hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 Acute intermittent porphyria GARD:0005732 updated hydroxymethylbilane synthase deficiency icd11.foundation:1565229118 icd11.foundation MONDO:0008294 acute intermittent porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphobilinogen deaminase deficiency porphobilinogen deaminase deficiency Porphobilinogen deaminase deficiency icd11.foundation:1565229118 Acute intermittent porphyria OMIM:176000 updated porphobilinogen deaminase deficiency icd11.foundation:1565229118 icd11.foundation -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria cutanea tarda porphyria cutanea tarda Porphyria cutanea tarda icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 updated porphyria cutanea tarda icd11.foundation:370983230 icd11.foundation -MONDO:0008296 familial porphyria cutanea tarda oio:hasExactSynonym oio:hasRelatedSynonym porphyria, Hepatocutaneous type porphyria, Hepatocutaneous type Porphyria, hepatocutaneous type icd11.foundation:370983230 Porphyria cutanea tarda OMIM:176100 updated porphyria, Hepatocutaneous type icd11.foundation:370983230 icd11.foundation MONDO:0008297 variegate porphyria oio:hasExactSynonym oio:hasRelatedSynonym porphyria variegata porphyria variegata Porphyria variegata icd11.foundation:1227474618 Variegate porphyria OMIM:176200 updated porphyria variegata icd11.foundation:1227474618 icd11.foundation MONDO:0008387 ring dermoid of cornea oio:hasExactSynonym oio:hasRelatedSynonym RING dermoid of cornea RING dermoid of cornea Ring dermoid of cornea icd11.foundation:271430543 Ring dermoid of cornea OMIM:180550 updated RING dermoid of cornea icd11.foundation:271430543 icd11.foundation MONDO:0008404 scalp-ear-nipple syndrome oio:hasExactSynonym oio:hasRelatedSynonym scalp-EAR-nipple syndrome scalp-EAR-nipple syndrome Scalp-ear-nipple syndrome icd11.foundation:88843032 Scalp-ear-nipple syndrome OMIM:181270 updated scalp-EAR-nipple syndrome icd11.foundation:88843032 icd11.foundation MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff skin syndrome icd11.foundation:642409035 Stiff skin syndrome OMIM:184900 updated STIFF skin syndrome icd11.foundation:642409035 icd11.foundation MONDO:0008493 overhydrated hereditary stomatocytosis oio:hasExactSynonym oio:hasRelatedSynonym OVERHYDRATED hereditary stomatocytosis OVERHYDRATED hereditary stomatocytosis Overhydrated hereditary stomatocytosis icd11.foundation:595647587 Overhydrated hereditary stomatocytosis OMIM:185000 updated OVERHYDRATED hereditary stomatocytosis icd11.foundation:595647587 icd11.foundation -MONDO:0008512 syndactyly type 1 oio:hasExactSynonym oio:hasRelatedSynonym craniosynostosis, Philadelphia type craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type icd11.foundation:234032200 Craniosynostosis, Philadelphia type OMIM:185900 updated craniosynostosis, Philadelphia type icd11.foundation:234032200 icd11.foundation -MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym polymyalgia rheumatica polymyalgia rheumatica Polymyalgia rheumatica icd11.foundation:103940897 Polymyalgia rheumatica OMIM:187360 updated polymyalgia rheumatica icd11.foundation:103940897 icd11.foundation MONDO:0008538 temporal arteritis oio:hasExactSynonym oio:hasRelatedSynonym cranial arteritis icd11.foundation:1929970386 Giant cell arteritis OMIM:187360 updated cranial arteritis icd11.foundation:1929970386 icd11.foundation MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym Fallot tetralogy icd11.foundation:90973426 Tetralogy of Fallot GARD:0002245 updated Fallot tetralogy icd11.foundation:90973426 icd11.foundation MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot icd11.foundation:90973426 Tetralogy of Fallot OMIM:187500 updated tetralogy of FALLOT icd11.foundation:90973426 icd11.foundation @@ -123706,15 +120177,12 @@ MONDO:0008713 acrodermatitis enteropathica oio:hasExactSynonym oio:hasRelatedSyn MONDO:0008747 oculocutaneous albinism type 3 oio:hasExactSynonym oio:hasRelatedSynonym Xanthism icd11.foundation:1565320806 Oculocutaneous albinism type 3 GARD:0009641, OMIM:203290 updated Xanthism icd11.foundation:1565320806 icd11.foundation MONDO:0008752 Alexander disease oio:hasExactSynonym oio:hasRelatedSynonym alexanders leukodystrophy alexanders leukodystrophy Alexanders leukodystrophy icd11.foundation:2023359698 Alexander disease GARD:0005774 updated alexanders leukodystrophy icd11.foundation:2023359698 icd11.foundation MONDO:0008753 alkaptonuria oio:hasExactSynonym oio:hasRelatedSynonym deficiency of homogentisicase icd11.foundation:1761652827 Alkaptonuria DOID:9270 updated deficiency of homogentisicase icd11.foundation:1761652827 icd11.foundation -MONDO:0008811 XK aprosencephaly oio:hasExactSynonym oio:hasRelatedSynonym atelencephaly atelencephaly Atelencephaly icd11.foundation:1740361952 Aprosencephaly Orphanet:3469 updated atelencephaly icd11.foundation:1740361952 icd11.foundation MONDO:0008815 argininosuccinic aciduria oio:hasExactSynonym oio:hasRelatedSynonym argininosuccinate lyase deficiency argininosuccinate lyase deficiency Argininosuccinate lyase deficiency icd11.foundation:439383288 Argininosuccinic aciduria OMIM:207900 updated argininosuccinate lyase deficiency icd11.foundation:439383288 icd11.foundation MONDO:0008853 Barber-Say syndrome oio:hasExactSynonym oio:hasRelatedSynonym BARBER-SAY syndrome BARBER-SAY syndrome Barber-Say syndrome icd11.foundation:37248895 Barber-Say syndrome OMIM:209885 updated BARBER-SAY syndrome icd11.foundation:37248895 icd11.foundation MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency MESH:C537079, Orphanet:572, GARD:0000824 updated Bare lymphocyte syndrome type 2 icd11.foundation:2021339495 icd11.foundation MONDO:0008855 MHC class II deficiency oio:hasExactSynonym oio:hasRelatedSynonym immunodeficiency by defective expression of HLA class 2 immunodeficiency by defective expression of HLA class 2 Immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 Major histocompatibility complex class II deficiency Orphanet:572 updated immunodeficiency by defective expression of HLA class 2 icd11.foundation:2021339495 icd11.foundation MONDO:0008889 thromboangiitis obliterans oio:hasExactSynonym oio:hasRelatedSynonym BUERGER disease BUERGER disease Buerger disease icd11.foundation:1000683110 Thromboangiitis obliterans OMIM:211480 updated BUERGER disease icd11.foundation:1000683110 icd11.foundation -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 oio:hasExactSynonym oio:hasRelatedSynonym progressive familial intrahepatic cholestasis progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis icd11.foundation:1457142642 Progressive familial intrahepatic cholestasis GARD:0009802 updated progressive familial intrahepatic cholestasis icd11.foundation:1457142642 icd11.foundation MONDO:0008918 carnitine-acylcarnitine translocase deficiency oio:hasExactSynonym oio:hasRelatedSynonym CARNITINE-acylcarnitine translocase deficiency CARNITINE-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency icd11.foundation:677949122 Carnitine-acylcarnitine translocase deficiency OMIM:212138 updated CARNITINE-acylcarnitine translocase deficiency icd11.foundation:677949122 icd11.foundation -MONDO:0009009 hypoplasminogenemia oio:hasExactSynonym oio:hasRelatedSynonym ligneous conjunctivitis ligneous conjunctivitis Ligneous conjunctivitis icd11.foundation:1464324556 Ligneous conjunctivitis OMIM:217090, ORCID:0000-0001-9310-0163 updated ligneous conjunctivitis icd11.foundation:1464324556 icd11.foundation MONDO:0009025 apparent mineralocorticoid excess oio:hasExactSynonym oio:hasRelatedSynonym apparent mineralocorticoid EXCESS apparent mineralocorticoid EXCESS Apparent mineralocorticoid excess icd11.foundation:1737310323 Apparent mineralocorticoid excess OMIM:218030 updated apparent mineralocorticoid EXCESS icd11.foundation:1737310323 icd11.foundation MONDO:0009039 Baller-Gerold syndrome oio:hasExactSynonym oio:hasRelatedSynonym BALLER-Gerold syndrome BALLER-Gerold syndrome Baller-Gerold syndrome icd11.foundation:1650688177 Baller-Gerold syndrome OMIM:218600 updated BALLER-Gerold syndrome icd11.foundation:1650688177 icd11.foundation MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym oio:hasRelatedSynonym Cushing disease icd11.foundation:380861892 Pituitary-dependent Cushing disease GARD:0012867 updated Cushing disease icd11.foundation:380861892 icd11.foundation @@ -123740,7 +120208,6 @@ MONDO:0009262 GM1 gangliosidosis type 3 oio:hasExactSynonym oio:hasRelatedSynony MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency oio:hasExactSynonym oio:hasRelatedSynonym ethylmalonic-Adipicaciduria ethylmalonic-Adipicaciduria Ethylmalonic-adipicaciduria icd11.foundation:977130875 Multiple acyl-CoA dehydrogenase deficiency OMIM:231680 updated ethylmalonic-Adipicaciduria icd11.foundation:977130875 icd11.foundation MONDO:0009303 anti-glomerular basement membrane disease oio:hasExactSynonym oio:hasRelatedSynonym anti-glomerular basement membrane antibody disease anti-glomerular basement membrane antibody disease Anti-glomerular basement membrane antibody disease icd11.foundation:591736785 Anti-glomerular basement membrane antibody mediated disease GARD:0002551 updated anti-glomerular basement membrane antibody disease icd11.foundation:591736785 icd11.foundation MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency oio:hasExactSynonym oio:hasRelatedSynonym Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined Growth Factor deficiency Werner-like syndrome due to combined growth factor deficiency icd11.foundation:1235390174 Lipodystrophy due to peptidic growth factors deficiency OMIM:233805 updated Werner-like syndrome due to combined Growth Factor deficiency icd11.foundation:1235390174 icd11.foundation -MONDO:0009348 classic Hodgkin lymphoma oio:hasExactSynonym oio:hasRelatedSynonym Hodgkin disease icd11.foundation:1528863768 Hodgkin lymphoma OMIM:236000 updated Hodgkin disease icd11.foundation:1528863768 icd11.foundation MONDO:0009451 Nezelof syndrome oio:hasExactSynonym oio:hasRelatedSynonym thymic aplasia thymic aplasia Thymic aplasia icd11.foundation:215376282 Nezelof syndrome OMIM:242700 updated thymic aplasia icd11.foundation:215376282 icd11.foundation MONDO:0009479 Johanson-Blizzard syndrome oio:hasExactSynonym oio:hasRelatedSynonym Johanson-BLIZZARD syndrome Johanson-BLIZZARD syndrome Johanson-Blizzard syndrome icd11.foundation:1427330812 Johanson-Blizzard syndrome OMIM:243800 updated Johanson-BLIZZARD syndrome icd11.foundation:1427330812 icd11.foundation MONDO:0009480 Joubert syndrome with oculorenal defect oio:hasExactSynonym oio:hasRelatedSynonym cerebello-oculo-renal syndrome cerebello-oculo-renal syndrome Cerebello-oculo-renal syndrome icd11.foundation:397835469 Joubert syndrome with oculorenal defect GARD:0009455 updated cerebello-oculo-renal syndrome icd11.foundation:397835469 icd11.foundation @@ -123751,7 +120218,6 @@ MONDO:0009514 Laurence-Moon syndrome oio:hasExactSynonym oio:hasRelatedSynonym L MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym hyalinosis cutis Et mucosae hyalinosis cutis Et mucosae Hyalinosis cutis et mucosae icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 updated hyalinosis cutis Et mucosae icd11.foundation:326368380 icd11.foundation MONDO:0009530 lipoid proteinosis oio:hasExactSynonym oio:hasRelatedSynonym lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 Lipoid proteinosis OMIM:247100 updated lipoid proteinosis of Urbach and Wiethe icd11.foundation:326368380 icd11.foundation MONDO:0009552 mal de Meleda oio:hasExactSynonym oio:hasRelatedSynonym MAL DE Meleda MAL DE Meleda Mal de Meleda icd11.foundation:1850911834 Mal de Meleda OMIM:248300 updated MAL DE Meleda icd11.foundation:1850911834 icd11.foundation -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasBroadSynonym mandibuloacral dysplasia mandibuloacral dysplasia Mandibuloacral dysplasia icd11.foundation:1687046570 Mandibuloacral dysplasia OMIM:genemap2, OMIM:248370 updated mandibuloacral dysplasia icd11.foundation:1687046570 icd11.foundation MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type A lipodystrophy MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy icd11.foundation:1756335062 Mandibuloacral dysplasia with type A lipodystrophy OMIM:248370 updated MANDIBULOACRAL dysplasia with type A lipodystrophy icd11.foundation:1756335062 icd11.foundation MONDO:0009561 alpha-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Alpha-D-mannosidase deficiency lysosomal Alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency icd11.foundation:1944256516 Alpha-mannosidosis OMIM:248500 updated lysosomal Alpha-D-mannosidase deficiency icd11.foundation:1944256516 icd11.foundation MONDO:0009562 beta-mannosidosis oio:hasExactSynonym oio:hasRelatedSynonym lysosomal Beta-mannosidase deficiency lysosomal Beta-mannosidase deficiency Lysosomal beta-mannosidase deficiency icd11.foundation:1578707401 Beta-mannosidosis OMIM:248510 updated lysosomal Beta-mannosidase deficiency icd11.foundation:1578707401 icd11.foundation @@ -123764,16 +120230,9 @@ MONDO:0009610 3-methylglutaconic aciduria type 1 oio:hasExactSynonym oio:hasRela MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym oio:hasRelatedSynonym heparan sulfate sulfatase deficiency heparan sulfate sulfatase deficiency Heparan sulfate sulfatase deficiency icd11.foundation:182200345 Mucopolysaccharidosis type 3A OMIM:252900 updated heparan sulfate sulfatase deficiency icd11.foundation:182200345 icd11.foundation MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym oio:hasRelatedSynonym N-Acetyl-Alpha-D-glucosaminidase deficiency N-Acetyl-Alpha-D-glucosaminidase deficiency N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B OMIM:252920 updated N-Acetyl-Alpha-D-glucosaminidase deficiency icd11.foundation:117303909 icd11.foundation MONDO:0009658 mucopolysaccharidosis type 3D oio:hasExactSynonym oio:hasRelatedSynonym N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 Mucopolysaccharidosis type 3D GARD:0007074 updated N-acetylglucosamine-6-sulfate sulfatase deficiency icd11.foundation:1780990193 icd11.foundation -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym oio:hasNarrowSynonym myelofibrosis with myeloid metaplasia myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia icd11.foundation:673220507 Myelofibrosis with myeloid metaplasia OMIM:254450, Orphanet:824 updated myelofibrosis with myeloid metaplasia icd11.foundation:673220507 icd11.foundation -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym oio:hasRelatedSynonym Al amyloidosis Al amyloidosis AL amyloidosis icd11.foundation:1061366491 AL amyloidosis OMIM:254500 updated Al amyloidosis icd11.foundation:1061366491 icd11.foundation MONDO:0009696 juvenile myoclonic epilepsy oio:hasExactSynonym oio:hasNarrowSynonym Janz syndrome icd11.foundation:1014397110 Juvenile myoclonic epilepsy DOID:4890, OMIM:254770 updated Janz syndrome icd11.foundation:1014397110 icd11.foundation MONDO:0009735 Netherton syndrome oio:hasExactSynonym oio:hasRelatedSynonym Netherton disease icd11.foundation:1797493665 Netherton syndrome OMIM:256500 updated Netherton disease icd11.foundation:1797493665 icd11.foundation -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym lipomucopolysaccharidosis lipomucopolysaccharidosis Lipomucopolysaccharidosis icd11.foundation:1154773192 Sialidosis type 1 OMIM:256550 updated lipomucopolysaccharidosis icd11.foundation:1154773192 icd11.foundation -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym mucolipidosis type 1 mucolipidosis type 1 Mucolipidosis type 1 icd11.foundation:1180347697 Sialidosis GARD:0007183 updated mucolipidosis type 1 icd11.foundation:1180347697 icd11.foundation -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasBroadSynonym sialidosis sialidosis Sialidosis icd11.foundation:1180347697 Sialidosis DOID:3343 updated sialidosis icd11.foundation:1180347697 icd11.foundation -MONDO:0009738 sialidosis type 2 oio:hasExactSynonym oio:hasRelatedSynonym glycoproteinosis glycoproteinosis Glycoproteinosis icd11.foundation:979972142 Glycoproteinosis DOID:3343 updated glycoproteinosis icd11.foundation:979972142 icd11.foundation MONDO:0009742 neuroectodermal melanolysosomal disease oio:hasExactSynonym oio:hasRelatedSynonym ELEJALDE disease ELEJALDE disease Elejalde disease icd11.foundation:771734461 Neuroectodermal melanolysosomal disease OMIM:256710 updated ELEJALDE disease icd11.foundation:771734461 icd11.foundation -MONDO:0009756 Niemann-Pick disease type A oio:hasExactSynonym oio:hasRelatedSynonym sphingomyelinase deficiency sphingomyelinase deficiency Sphingomyelinase deficiency icd11.foundation:398872780 Niemann-Pick disease OMIM:257200 updated sphingomyelinase deficiency icd11.foundation:398872780 icd11.foundation MONDO:0009785 opsismodysplasia oio:hasExactSynonym oio:hasRelatedSynonym OPSISMODYSPLASIA OPSISMODYSPLASIA Opsismodysplasia icd11.foundation:2147268863 Opsismodysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:258480 updated OPSISMODYSPLASIA icd11.foundation:2147268863 icd11.foundation MONDO:0009787 3-methylglutaconic aciduria type 3 oio:hasExactSynonym oio:hasRelatedSynonym optic atrophy plus syndrome optic atrophy plus syndrome Optic atrophy plus syndrome icd11.foundation:535412248 3-methylglutaconic aciduria type 3 OMIM:258501 updated optic atrophy plus syndrome icd11.foundation:535412248 icd11.foundation MONDO:0009797 orotic aciduria oio:hasExactSynonym oio:hasRelatedSynonym hereditary orotic aciduria hereditary orotic aciduria Hereditary orotic aciduria icd11.foundation:449856959 Hereditary orotic aciduria Orphanet:30 updated hereditary orotic aciduria icd11.foundation:449856959 icd11.foundation @@ -123781,29 +120240,18 @@ MONDO:0009823 primary hyperoxaluria type 1 oio:hasExactSynonym oio:hasRelatedSyn MONDO:0009833 Shwachman-Diamond syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital lipomatosis of pancreas congenital lipomatosis of pancreas Congenital lipomatosis of pancreas icd11.foundation:232885463 Shwachman-Diamond syndrome GARD:0004863 updated congenital lipomatosis of pancreas icd11.foundation:232885463 icd11.foundation MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Dawson encephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis GARD:0007708 updated Dawson encephalitis icd11.foundation:1098683540 icd11.foundation MONDO:0009835 subacute sclerosing panencephalitis oio:hasExactSynonym oio:hasRelatedSynonym Subacute sclerosing leukoencephalitis Subacute sclerosing leukoencephalitis subacute sclerosing leukoencephalitis icd11.foundation:1098683540 Subacute sclerosing panencephalitis Orphanet:2806 updated Subacute sclerosing leukoencephalitis icd11.foundation:1098683540 icd11.foundation -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 updated choroid plexus carcinoma icd11.foundation:1128449352 icd11.foundation -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym choroid plexus carcinoma choroid plexus carcinoma Choroid plexus carcinoma icd11.foundation:1128449352 Choroid plexus carcinoma OMIM:260500 updated choroid plexus carcinoma icd11.foundation:1128449352 icd11.foundation -MONDO:0009837 choroid plexus papilloma oio:hasExactSynonym oio:hasRelatedSynonym papilloma of choroid plexus icd11.foundation:1959912502 Choroid plexus tumours OMIM:260500, MONDO:Lexical, NCIT:C3698 updated papilloma of choroid plexus icd11.foundation:1959912502 icd11.foundation -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym imbecilitus phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria updated imbecilitus phenylpyruvica icd11.foundation:2084504393 icd11.foundation -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia Phenylpyruvica oligophrenia Phenylpyruvica oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria OMIM:261600 updated oligophrenia Phenylpyruvica icd11.foundation:2084504393 icd11.foundation -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym oligophrenia phenylpyruvica icd11.foundation:2084504393 Classical phenylketonuria updated oligophrenia phenylpyruvica icd11.foundation:2084504393 icd11.foundation -MONDO:0009861 phenylketonuria oio:hasExactSynonym oio:hasRelatedSynonym phenylpyruvic oligophrenia icd11.foundation:2084504393 Classical phenylketonuria updated phenylpyruvic oligophrenia icd11.foundation:2084504393 icd11.foundation MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin sequence icd11.foundation:136361299 Pierre Robin syndrome OMIM:261800, MESH:D010855 updated Pierre Robin sequence icd11.foundation:136361299 icd11.foundation MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym oio:hasRelatedSynonym Pierre Robin syndrome icd11.foundation:136361299 Pierre Robin syndrome MONDO:Lexical, OMIM:261800 updated Pierre Robin syndrome icd11.foundation:136361299 icd11.foundation MONDO:0009879 short stature due to growth hormone qualitative anomaly oio:hasExactSynonym oio:hasRelatedSynonym KOWARSKI syndrome KOWARSKI syndrome Kowarski syndrome icd11.foundation:1665498704 Short stature due to growth hormone qualitative anomaly OMIM:262650 updated KOWARSKI syndrome icd11.foundation:1665498704 icd11.foundation MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum oio:hasExactSynonym oio:hasRelatedSynonym pseudoxanthoma elasticum pseudoxanthoma elasticum Pseudoxanthoma elasticum icd11.foundation:1516160852 Pseudoxanthoma elasticum MONDO:Lexical, OMIM:264800 updated pseudoxanthoma elasticum icd11.foundation:1516160852 icd11.foundation -MONDO:0009926 autosomal recessive multiple pterygium syndrome oio:hasExactSynonym oio:hasRelatedSynonym multiple pterygium syndrome multiple pterygium syndrome Multiple pterygium syndrome icd11.foundation:834369371 Multiple pterygium syndrome OMIM:265000, GARD:0007111 updated multiple pterygium syndrome icd11.foundation:834369371 icd11.foundation MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome oio:hasExactSynonym oio:hasRelatedSynonym pulmonary atresia with intact ventricular septum pulmonary atresia with intact ventricular septum Pulmonary atresia with intact ventricular septum icd11.foundation:131289265 Pulmonary atresia with intact ventricular septum OMIM:265150 updated pulmonary atresia with intact ventricular septum icd11.foundation:131289265 icd11.foundation MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym oio:hasRelatedSynonym pyroglutamic aciduria pyroglutamic aciduria Pyroglutamic aciduria icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria OMIM:266130 updated pyroglutamic aciduria icd11.foundation:2005562438 icd11.foundation -MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym ataxia with lactic acidosis 2 icd11.foundation:1124597954 Pyruvate dehydrogenase complex deficiency OMIM:266150 updated ataxia with lactic acidosis 2 icd11.foundation:1124597954 icd11.foundation MONDO:0009949 pyruvate carboxylase deficiency disease oio:hasExactSynonym oio:hasRelatedSynonym pyruvate carboxylase deficiency pyruvate carboxylase deficiency Pyruvate carboxylase deficiency icd11.foundation:2047948460 Pyruvate carboxylase deficiency OMIM:266150 updated pyruvate carboxylase deficiency icd11.foundation:2047948460 icd11.foundation -MONDO:0009970 renal tubular dysgenesis of genetic origin oio:hasExactSynonym oio:hasRelatedSynonym renal tubular dysgenesis renal tubular dysgenesis Renal tubular dysgenesis icd11.foundation:191424358 Renal tubular dysgenesis MONDO:Lexical, OMIM:267430 updated renal tubular dysgenesis icd11.foundation:191424358 icd11.foundation MONDO:0010002 Rothmund-Thomson syndrome oio:hasExactSynonym oio:hasRelatedSynonym poikiloderma congenitale poikiloderma congenitale Poikiloderma congenitale icd11.foundation:652761118 Rothmund-Thomson syndrome GARD:0004392 updated poikiloderma congenitale icd11.foundation:652761118 icd11.foundation MONDO:0010006 Sandhoff disease oio:hasExactSynonym oio:hasRelatedSynonym total hexosaminidase deficiency total hexosaminidase deficiency Total hexosaminidase deficiency icd11.foundation:708581915 Sandhoff disease GARD:0007604 updated total hexosaminidase deficiency icd11.foundation:708581915 icd11.foundation MONDO:0010074 brachyolmia type 1, toledo type oio:hasExactSynonym oio:hasRelatedSynonym brachyolmia type 1, Toledo type brachyolmia type 1, Toledo type Brachyolmia type 1, Toledo type icd11.foundation:637954533 Brachyolmia type 1, Toledo type OMIM:271630, MONDO:Lexical updated brachyolmia type 1, Toledo type icd11.foundation:637954533 icd11.foundation MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym Canavan-Van Bogaert-Bertrand disease Canavan-Van Bogaert-Bertrand disease Canavan-van Bogaert-Bertrand disease icd11.foundation:1576870846 Canavan disease OMIM:271900 updated Canavan-Van Bogaert-Bertrand disease icd11.foundation:1576870846 icd11.foundation MONDO:0010079 Canavan disease oio:hasExactSynonym oio:hasRelatedSynonym spongy Degeneration of central nervous system spongy Degeneration of central nervous system Spongy degeneration of central nervous system icd11.foundation:1576870846 Canavan disease OMIM:271900 updated spongy Degeneration of central nervous system icd11.foundation:1576870846 icd11.foundation -MONDO:0010080 familial infantile bilateral striatal necrosis oio:hasExactSynonym oio:hasRelatedSynonym infantile bilateral striatal necrosis infantile bilateral striatal necrosis Infantile bilateral striatal necrosis icd11.foundation:1947032348 Infantile bilateral striatal necrosis OMIM:271930 updated infantile bilateral striatal necrosis icd11.foundation:1947032348 icd11.foundation MONDO:0010088 mucosulfatidosis oio:hasExactSynonym oio:hasRelatedSynonym multiple sulfatase deficiency multiple sulfatase deficiency Multiple sulfatase deficiency icd11.foundation:848083807 Mucosulfatidosis MONDO:Lexical, OMIM:272200 updated multiple sulfatase deficiency icd11.foundation:848083807 icd11.foundation MONDO:0010092 Filippi syndrome oio:hasExactSynonym oio:hasRelatedSynonym FILIPPI syndrome FILIPPI syndrome Filippi syndrome icd11.foundation:1989471300 Filippi syndrome OMIM:272440 updated FILIPPI syndrome icd11.foundation:1989471300 icd11.foundation MONDO:0010100 Tay-Sachs disease oio:hasExactSynonym oio:hasRelatedSynonym TAY-Sachs disease TAY-Sachs disease Tay-Sachs disease icd11.foundation:215008783 Tay-Sachs disease OMIM:272800 updated TAY-Sachs disease icd11.foundation:215008783 icd11.foundation @@ -123812,9 +120260,6 @@ MONDO:0010155 Dorfman-Chanarin disease oio:hasExactSynonym oio:hasRelatedSynonym MONDO:0010160 tyrosinemia type II oio:hasExactSynonym oio:hasRelatedSynonym tyrosine transaminase deficiency tyrosine transaminase deficiency Tyrosine transaminase deficiency icd11.foundation:1900229795 Tyrosinaemia type 2 OMIM:276600 updated tyrosine transaminase deficiency icd11.foundation:1900229795 icd11.foundation MONDO:0010167 urocanic aciduria oio:hasExactSynonym oio:hasRelatedSynonym urocanase deficiency urocanase deficiency Urocanase deficiency icd11.foundation:61773927 Urocanic aciduria OMIM:276880, MONDO:Lexical updated urocanase deficiency icd11.foundation:61773927 icd11.foundation MONDO:0010193 Weaver syndrome oio:hasExactSynonym oio:hasRelatedSynonym WEAVER syndrome WEAVER syndrome Weaver syndrome icd11.foundation:2042913723 Weaver syndrome OMIM:277590 updated WEAVER syndrome icd11.foundation:2042913723 icd11.foundation -MONDO:0010198 Wernicke-Korsakoff syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wernicke encephalopathy icd11.foundation:1360335041 Wernicke encephalopathy NCIT:C35764 updated Wernicke encephalopathy icd11.foundation:1360335041 icd11.foundation -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenoleukodystrophy adrenoleukodystrophy Adrenoleukodystrophy icd11.foundation:1085655586 Adrenoleukodystrophy MONDO:Lexical, OMIM:300100 updated adrenoleukodystrophy icd11.foundation:1085655586 icd11.foundation -MONDO:0010247 X-linked cerebral adrenoleukodystrophy oio:hasExactSynonym oio:hasRelatedSynonym adrenomyeloneuropathy adrenomyeloneuropathy Adrenomyeloneuropathy icd11.foundation:1214673956 Adrenomyeloneuropathy OMIM:300100 updated adrenomyeloneuropathy icd11.foundation:1214673956 icd11.foundation MONDO:0010354 Allan-Herndon-Dudley syndrome oio:hasExactSynonym oio:hasRelatedSynonym ALLAN-Herndon-DUDLEY syndrome ALLAN-Herndon-DUDLEY syndrome Allan-Herndon-Dudley syndrome icd11.foundation:56813604 Allan-Herndon-Dudley syndrome OMIM:300523 updated ALLAN-Herndon-DUDLEY syndrome icd11.foundation:56813604 icd11.foundation MONDO:0010401 X-linked myopathy with postural muscle atrophy oio:hasExactSynonym oio:hasRelatedSynonym Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 X-linked myopathy with postural muscle atrophy OMIM:300696 updated Emery-Dreifuss muscular dystrophy 6, X-linked icd11.foundation:420677690 icd11.foundation MONDO:0010446 X-linked cone dysfunction syndrome with myopia oio:hasExactSynonym oio:hasRelatedSynonym BORNHOLM eye disease BORNHOLM eye disease Bornholm eye disease icd11.foundation:290885874 X-linked cone dysfunction syndrome with myopia MONDO:Lexical, OMIM:300843 updated BORNHOLM eye disease icd11.foundation:290885874 icd11.foundation @@ -123829,23 +120274,17 @@ MONDO:0010679 Duchenne muscular dystrophy oio:hasExactSynonym oio:hasRelatedSyno MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome oio:hasExactSynonym oio:hasRelatedSynonym WAISMAN syndrome WAISMAN syndrome Waisman syndrome icd11.foundation:937544163 Early-onset parkinsonism - intellectual deficit MONDO:Lexical, OMIM:311510 updated WAISMAN syndrome icd11.foundation:937544163 icd11.foundation MONDO:0010725 X-linked retinoschisis oio:hasExactSynonym oio:hasRelatedSynonym juvenile retinoschisis juvenile retinoschisis Juvenile retinoschisis icd11.foundation:2074506458 Juvenile retinoschisis GARD:0004690 updated juvenile retinoschisis icd11.foundation:2074506458 icd11.foundation MONDO:0010771 histiocytoid cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym focal lipid cardiomyopathy icd11.foundation:1870618141 Histiocytoid cardiomyopathy GARD:0009511 updated focal lipid cardiomyopathy icd11.foundation:1870618141 icd11.foundation -MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym ophthalmoplegia plus syndrome icd11.foundation:1698427219 Progressive external ophthalmoplegia GARD:0006817 updated ophthalmoplegia plus syndrome icd11.foundation:1698427219 icd11.foundation MONDO:0010787 Kearns-Sayre syndrome oio:hasExactSynonym oio:hasRelatedSynonym oculocraniosomatic syndrome icd11.foundation:399100745 Kearns-Sayre syndrome OMIM:530000 updated oculocraniosomatic syndrome icd11.foundation:399100745 icd11.foundation MONDO:0010794 NARP syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuropathy, ataxia, and retinitis pigmentosa neuropathy, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 Neuropathy, ataxia, and retinitis pigmentosa OMIM:551500 updated neuropathy, ataxia, and retinitis pigmentosa icd11.foundation:2089784682 icd11.foundation MONDO:0010805 bladder exstrophy oio:hasExactSynonym oio:hasRelatedSynonym exstrophy of bladder icd11.foundation:1927556258 Exstrophy of urinary bladder OMIM:600057 updated exstrophy of bladder icd11.foundation:1927556258 icd11.foundation MONDO:0010808 fatal familial insomnia oio:hasExactSynonym oio:hasRelatedSynonym fatal familial INSOMNIA fatal familial INSOMNIA Fatal familial insomnia icd11.foundation:669154658 Fatal familial insomnia OMIM:600072 updated fatal familial INSOMNIA icd11.foundation:669154658 icd11.foundation MONDO:0010908 loose anagen syndrome oio:hasExactSynonym oio:hasRelatedSynonym loose anagen hair syndrome loose anagen hair syndrome Loose anagen hair syndrome icd11.foundation:547259783 Loose anagen syndrome OMIM:600628 updated loose anagen hair syndrome icd11.foundation:547259783 icd11.foundation -MONDO:0010920 microtia oio:hasExactSynonym oio:hasNarrowSynonym anotia anotia Anotia icd11.foundation:2056675356 Anotia MESH:D065817 updated anotia icd11.foundation:2056675356 icd11.foundation MONDO:0010959 van den Ende-Gupta syndrome oio:hasExactSynonym oio:hasRelatedSynonym VAN DEN Ende-Gupta syndrome VAN DEN Ende-Gupta syndrome Van den Ende-Gupta syndrome icd11.foundation:1740735985 Van den Ende-Gupta syndrome OMIM:600920 updated VAN DEN Ende-Gupta syndrome icd11.foundation:1740735985 icd11.foundation MONDO:0011017 Naxos disease oio:hasExactSynonym oio:hasRelatedSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 Naxos disease OMIM:601214 updated keratosis palmoplantaris with arrhythmogenic cardiomyopathy icd11.foundation:633516876 icd11.foundation MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym oio:hasRelatedSynonym hyaluronidase deficiency hyaluronidase deficiency Hyaluronidase deficiency icd11.foundation:952591271 Mucopolysaccharidosis type 9 OMIM:601492 updated hyaluronidase deficiency icd11.foundation:952591271 icd11.foundation MONDO:0011244 Marshall-Smith syndrome oio:hasExactSynonym oio:hasRelatedSynonym Marshall-SMITH syndrome Marshall-SMITH syndrome Marshall-Smith syndrome icd11.foundation:417951600 Marshall-Smith syndrome OMIM:602535 updated Marshall-SMITH syndrome icd11.foundation:417951600 icd11.foundation -MONDO:0011266 myotonic dystrophy type 2 oio:hasExactSynonym oio:hasRelatedSynonym DM2 icd11.foundation:119724091 Type 2 diabetes mellitus http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION OMIM:602668, MONDO:Lexical updated DM2 icd11.foundation:119724091 http://purl.obolibrary.org/obo/mondo#ABBREVIATION icd11.foundation -MONDO:0011429 juvenile idiopathic arthritis oio:hasExactSynonym oio:hasNarrowSynonym pauciarticular juvenile arthritis icd11.foundation:1990556904 Juvenile idiopathic oligoarthritis DOID:676 updated pauciarticular juvenile arthritis icd11.foundation:1990556904 icd11.foundation MONDO:0011612 glycine encephalopathy oio:hasExactSynonym oio:hasRelatedSynonym GLYCINE encephalopathy GLYCINE encephalopathy Glycine encephalopathy icd11.foundation:1491869639 Glycine encephalopathy OMIM:605899 updated GLYCINE encephalopathy icd11.foundation:1491869639 icd11.foundation -MONDO:0011786 allergic rhinitis oio:hasExactSynonym oio:hasNarrowSynonym perennial allergic rhinitis perennial allergic rhinitis Perennial allergic rhinitis icd11.foundation:1273917262 Perennial allergic rhinitis DOID:4481 updated perennial allergic rhinitis icd11.foundation:1273917262 icd11.foundation MONDO:0011849 psoriatic arthritis oio:hasExactSynonym oio:hasRelatedSynonym psoriatic arthropathy icd11.foundation:868183264 Psoriatic arthritis DOID:9008 updated psoriatic arthropathy icd11.foundation:868183264 icd11.foundation -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym oio:hasBroadSynonym chronic myelomonocytic leukaemia chronic myelomonocytic leukaemia Chronic myelomonocytic leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 updated chronic myelomonocytic leukaemia icd11.foundation:2073226578 icd11.foundation MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym MANDIBULOACRAL dysplasia with type B lipodystrophy MANDIBULOACRAL dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy icd11.foundation:1199517264 Mandibuloacral dysplasia with type B lipodystrophy OMIM:608612 updated MANDIBULOACRAL dysplasia with type B lipodystrophy icd11.foundation:1199517264 icd11.foundation MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym oio:hasRelatedSynonym Dopa decarboxylase deficiency Dopa decarboxylase deficiency DOPA decarboxylase deficiency icd11.foundation:1134258245 Aromatic L-amino acid decarboxylase deficiency OMIM:608643 updated Dopa decarboxylase deficiency icd11.foundation:1134258245 icd11.foundation MONDO:0012172 mitochondrial trifunctional protein deficiency oio:hasExactSynonym oio:hasRelatedSynonym mitochondrial trifunctional PROTEIN deficiency mitochondrial trifunctional PROTEIN deficiency Mitochondrial trifunctional protein deficiency icd11.foundation:1018083832 Mitochondrial trifunctional protein deficiency OMIM:609015 updated mitochondrial trifunctional PROTEIN deficiency icd11.foundation:1018083832 icd11.foundation @@ -123862,56 +120301,34 @@ MONDO:0013164 beta-ureidopropionase deficiency oio:hasExactSynonym oio:hasRelate MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym oio:hasRelatedSynonym WARSAW breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome icd11.foundation:833375162 Warsaw breakage syndrome OMIM:613398 updated WARSAW breakage syndrome icd11.foundation:833375162 icd11.foundation MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym ALPHA-1-antitrypsin deficiency ALPHA-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 updated ALPHA-1-antitrypsin deficiency icd11.foundation:824872160 icd11.foundation MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym oio:hasRelatedSynonym alpha-1-antitrypsin deficiency alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency icd11.foundation:824872160 Alpha-1-antitrypsin deficiency OMIM:613490 updated alpha-1-antitrypsin deficiency icd11.foundation:824872160 icd11.foundation -MONDO:0013700 pancreatic triacylglycerol lipase deficiency oio:hasExactSynonym oio:hasRelatedSynonym pancreatic colipase deficiency pancreatic colipase deficiency Pancreatic colipase deficiency icd11.foundation:11281354 Pancreatic colipase deficiency OMIM:614338 updated pancreatic colipase deficiency icd11.foundation:11281354 icd11.foundation MONDO:0013873 IMAGe syndrome oio:hasExactSynonym oio:hasRelatedSynonym intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 IMAGe syndrome GARD:0012312 updated intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies icd11.foundation:1064803315 icd11.foundation MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency oio:hasExactSynonym oio:hasNarrowSynonym isolated ATP synthase deficiency isolated ATP synthase deficiency Isolated ATP synthase deficiency icd11.foundation:902255625 Isolated ATP synthase deficiency Orphanet:254913 updated isolated ATP synthase deficiency icd11.foundation:902255625 icd11.foundation MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym oio:hasRelatedSynonym laryngeal neuroendocrine tumour laryngeal neuroendocrine tumour Laryngeal neuroendocrine tumour icd11.foundation:1502591214 Laryngeal endocrine tumour http://purl.obolibrary.org/obo/OMO_0003005 updated laryngeal neuroendocrine tumour icd11.foundation:1502591214 icd11.foundation MONDO:0015131 combined immunodeficiency oio:hasExactSynonym oio:hasRelatedSynonym combined T and B cell immunodeficiency combined T and B cell immunodeficiency Combined T and B cell immunodeficiency icd11.foundation:1616506198 Combined immunodeficiencies Orphanet:101972 updated combined T and B cell immunodeficiency icd11.foundation:1616506198 icd11.foundation -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann disease icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 updated Kostmann disease icd11.foundation:421553273 icd11.foundation -MONDO:0015134 constitutional neutropenia oio:hasExactSynonym oio:hasNarrowSynonym Kostmann syndrome icd11.foundation:421553273 Kostmann syndrome NCIT:C61242 updated Kostmann syndrome icd11.foundation:421553273 icd11.foundation MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym amyoplasia congenita icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 updated amyoplasia congenita icd11.foundation:1930990330 icd11.foundation MONDO:0015168 arthrogryposis multiplex congenita oio:hasExactSynonym oio:hasRelatedSynonym congenital amyoplasia icd11.foundation:1930990330 Arthrogryposis multiplex congenita Orphanet:1037 updated congenital amyoplasia icd11.foundation:1930990330 icd11.foundation MONDO:0015228 pentasomy X oio:hasExactSynonym oio:hasRelatedSynonym Pentasomy X syndrome Pentasomy X syndrome pentasomy x syndrome icd11.foundation:2087864894 Pentasomy X GARD:0005678 updated Pentasomy X syndrome icd11.foundation:2087864894 icd11.foundation MONDO:0015265 bronchiolitis obliterans syndrome oio:hasExactSynonym oio:hasRelatedSynonym obliterative bronchiolitis icd11.foundation:592711730 Chronic obliterative bronchiolitis Orphanet:1303, DOID:2799 updated obliterative bronchiolitis icd11.foundation:592711730 icd11.foundation MONDO:0015274 chronic beryllium disease oio:hasExactSynonym oio:hasRelatedSynonym beryllium disease icd11.foundation:212013370 Berylliosis GARD:0000867 updated beryllium disease icd11.foundation:212013370 icd11.foundation MONDO:0015285 Carney complex oio:hasExactSynonym oio:hasRelatedSynonym Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 Carney complex GARD:0001119 updated Myxoma - spotty pigmentation - endocrine overactivity icd11.foundation:1051158630 icd11.foundation -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy early juvenile type icd11.foundation:1716107919 Juvenile neuronal ceroid lipofuscinosis updated amaurotic idiocy early juvenile type icd11.foundation:1716107919 icd11.foundation MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym amaurotic idiocy late infantile type icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis updated amaurotic idiocy late infantile type icd11.foundation:1923920542 icd11.foundation MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky syndrome dollinger-Bielschowsky syndrome Dollinger-Bielschowsky syndrome icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis updated dollinger-Bielschowsky syndrome icd11.foundation:1923920542 icd11.foundation MONDO:0015674 late infantile neuronal ceroid lipofuscinosis oio:hasExactSynonym oio:hasRelatedSynonym dollinger-Bielschowsky type neuronal ceroid lipofuscinosis dollinger-Bielschowsky type neuronal ceroid lipofuscinosis Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 Late infantile neuronal ceroid lipofuscinosis updated dollinger-Bielschowsky type neuronal ceroid lipofuscinosis icd11.foundation:1923920542 icd11.foundation MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym oio:hasRelatedSynonym myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Orphanet:168947 updated myeloid/lymphoid neoplasm associated with PDGFRA rearrangement icd11.foundation:833355630 icd11.foundation MONDO:0015772 trisomy 8q oio:hasExactSynonym oio:hasRelatedSynonym 8q duplication icd11.foundation:573390171 8q duplication GARD:0005362 updated 8q duplication icd11.foundation:573390171 icd11.foundation -MONDO:0015780 dyskeratosis congenita oio:hasExactSynonym oio:hasRelatedSynonym Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 Hoyeraal-Hreidarsson syndrome GARD:0010905 updated Hoyeraal-Hreidarsson syndrome icd11.foundation:340127408 icd11.foundation -MONDO:0015898 adrenogenital syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital adrenal hyperplasia congenital adrenal hyperplasia Congenital adrenal hyperplasia icd11.foundation:172733763 Congenital adrenal hyperplasia Wikipedia:Congenital_adrenal_hyperplasia updated congenital adrenal hyperplasia icd11.foundation:172733763 icd11.foundation MONDO:0016010 vitamin K-antagonist embryofetopathy oio:hasExactSynonym oio:hasRelatedSynonym embryofetopathy due to oral anticoagulant therapy embryofetopathy due to oral anticoagulant therapy Embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 Embryofetopathy due to oral anticoagulant therapy GARD:0008580 updated embryofetopathy due to oral anticoagulant therapy icd11.foundation:71579696 icd11.foundation MONDO:0016013 fetal methylmercury syndrome oio:hasExactSynonym oio:hasRelatedSynonym Minamata disease icd11.foundation:1975519045 Fetal methylmercury syndrome Orphanet:1917 updated Minamata disease icd11.foundation:1975519045 icd11.foundation MONDO:0016100 rippling muscle disease with myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym acquired rippling muscle disease acquired rippling muscle disease Acquired rippling muscle disease icd11.foundation:327350590 Rippling muscle disease with myasthenia gravis Orphanet:206575 updated acquired rippling muscle disease icd11.foundation:327350590 icd11.foundation MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia atrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 updated myotonia atrophica icd11.foundation:192087511 icd11.foundation MONDO:0016107 myotonic dystrophy oio:hasExactSynonym oio:hasRelatedSynonym myotonia dystrophica icd11.foundation:192087511 Myotonic dystrophy GARD:0010419 updated myotonia dystrophica icd11.foundation:192087511 icd11.foundation -MONDO:0016158 narcolepsy-cataplexy syndrome oio:hasExactSynonym oio:hasRelatedSynonym narcoleptic syndrome icd11.foundation:1201727099 Narcolepsy GARD:0007162 updated narcoleptic syndrome icd11.foundation:1201727099 icd11.foundation -MONDO:0016227 hereditary episodic ataxia oio:hasExactSynonym oio:hasRelatedSynonym Isaacs syndrome icd11.foundation:646523932 Neuromyotonia DOID:963 updated Isaacs syndrome icd11.foundation:646523932 icd11.foundation -MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine disease icd11.foundation:1237620397 Cystinuria GARD:0006236 updated cystine disease icd11.foundation:1237620397 icd11.foundation MONDO:0016239 cystinosis oio:hasExactSynonym oio:hasRelatedSynonym cystine diathesis cystine diathesis Cystine diathesis icd11.foundation:733715856 Cystinosis GARD:0006236 updated cystine diathesis icd11.foundation:733715856 icd11.foundation -MONDO:0016241 alternating hemiplegia of childhood oio:hasExactSynonym oio:hasRelatedSynonym alternating hemiplegia alternating hemiplegia Alternating hemiplegia icd11.foundation:774373615 Alternating hemiplegia GARD:0000011 updated alternating hemiplegia icd11.foundation:774373615 icd11.foundation -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasNarrowSynonym adult dermatomyositis adult dermatomyositis Adult dermatomyositis icd11.foundation:544509908 Adult dermatomyositis Orphanet:221, GARD:0006263 updated adult dermatomyositis icd11.foundation:544509908 icd11.foundation -MONDO:0016367 dermatomyositis oio:hasExactSynonym oio:hasRelatedSynonym Amyopathic dermatomyositis icd11.foundation:727262285 Amyopathic dermatomyositis DOID:10223, MESH:C538250 updated Amyopathic dermatomyositis icd11.foundation:727262285 icd11.foundation MONDO:0016483 intracranial berry aneurysm oio:hasExactSynonym oio:hasRelatedSynonym familial cerebral saccular aneurysm familial cerebral saccular aneurysm Familial cerebral saccular aneurysm icd11.foundation:59881644 Familial cerebral saccular aneurysm Orphanet:231160 updated familial cerebral saccular aneurysm icd11.foundation:59881644 icd11.foundation MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym oio:hasRelatedSynonym congenital cystic adenomatoid malformation congenital cystic adenomatoid malformation Congenital cystic adenomatoid malformation icd11.foundation:2091138945 Congenital pulmonary airway malformations GARD:0006232 updated congenital cystic adenomatoid malformation icd11.foundation:2091138945 icd11.foundation -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym oio:hasRelatedSynonym Aggressive systemic mastocytosis icd11.foundation:870477963 Aggressive systemic mastocytosis GARD:0008616 updated Aggressive systemic mastocytosis icd11.foundation:870477963 icd11.foundation MONDO:0016812 dopa-responsive dystonia oio:hasExactSynonym oio:hasRelatedSynonym DYT5 icd11.foundation:1534901505 Dopa-responsive dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION GARD:0009817 updated DYT5 icd11.foundation:1534901505 http://purl.obolibrary.org/obo/mondo#ABBREVIATION icd11.foundation -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele icd11.foundation:1200528084 Myelomeningocele NCIT:C101201 updated myelomeningocele icd11.foundation:1200528084 icd11.foundation -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym open spina bifida open spina bifida Open spina bifida icd11.foundation:187581000 Spina bifida aperta MESH:D016137 updated open spina bifida icd11.foundation:187581000 icd11.foundation -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida aperta spina bifida aperta Spina bifida aperta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 updated spina bifida aperta icd11.foundation:187581000 icd11.foundation -MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasRelatedSynonym spina bifida manifesta spina bifida manifesta Spina bifida manifesta icd11.foundation:187581000 Spina bifida aperta MESH:D016137 updated spina bifida manifesta icd11.foundation:187581000 icd11.foundation -MONDO:0017086 primary tethered cord syndrome oio:hasExactSynonym oio:hasRelatedSynonym occult spinal dysraphism occult spinal dysraphism Occult spinal dysraphism icd11.foundation:449489594 Occult spinal dysraphism GARD:0004018 updated occult spinal dysraphism icd11.foundation:449489594 icd11.foundation MONDO:0017137 onchocerciasis oio:hasExactSynonym oio:hasRelatedSynonym onchocercosis icd11.foundation:106136071 Onchocerciasis updated onchocercosis icd11.foundation:106136071 icd11.foundation MONDO:0017194 Blount disease oio:hasExactSynonym oio:hasRelatedSynonym tibia vara icd11.foundation:138830223 Blount disease GARD:0000916 updated tibia vara icd11.foundation:138830223 icd11.foundation -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasBroadSynonym echinococcosis echinococcosis Echinococcosis icd11.foundation:1456802165 Echinococcosis GARD:0000207 updated echinococcosis icd11.foundation:1456802165 icd11.foundation -MONDO:0017282 alveolar echinococcosis oio:hasExactSynonym oio:hasRelatedSynonym echinococcus multilocularis infection icd11.foundation:1456802165 Echinococcosis DOID:12148 updated echinococcus multilocularis infection icd11.foundation:1456802165 icd11.foundation MONDO:0017416 postpoliomyelitis syndrome oio:hasExactSynonym oio:hasRelatedSynonym post polio syndrome icd11.foundation:2018885243 Post polio progressive muscular atrophy GARD:0004454 updated post polio syndrome icd11.foundation:2018885243 icd11.foundation -MONDO:0017453 fetal parvovirus syndrome oio:hasExactSynonym oio:hasRelatedSynonym fifth disease fifth disease Fifth disease icd11.foundation:352375140 Erythema infectiosum GARD:0004236 updated fifth disease icd11.foundation:352375140 icd11.foundation MONDO:0017471 congenital patella dislocation oio:hasExactSynonym oio:hasRelatedSynonym congenital patellar dislocation icd11.foundation:1383302301 Congenital patella dislocation GARD:0009692 updated congenital patellar dislocation icd11.foundation:1383302301 icd11.foundation -MONDO:0017720 GM2 gangliosidosis oio:hasExactSynonym oio:hasRelatedSynonym GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 Tay-Sachs disease GARD:0002522 updated GM2-gangliosidosis, B, B1, AB variant icd11.foundation:215008783 icd11.foundation MONDO:0017775 melioidosis oio:hasExactSynonym oio:hasRelatedSynonym Whitmore disease icd11.foundation:2129350166 Melioidosis GARD:0009546 updated Whitmore disease icd11.foundation:2129350166 icd11.foundation MONDO:0017776 nocardiosis oio:hasExactSynonym oio:hasRelatedSynonym Nocardia infection Nocardia infection nocardia infection icd11.foundation:6555116 Nocardiosis GARD:0007210 updated Nocardia infection icd11.foundation:6555116 icd11.foundation MONDO:0017827 malignant peripheral nerve sheath tumor oio:hasExactSynonym oio:hasBroadSynonym neurofibrosarcoma icd11.foundation:71413945 Malignant peripheral nerve sheath tumour of cranial or paraspinal nerves NCIT:C3798, Orphanet:3148 updated neurofibrosarcoma icd11.foundation:71413945 icd11.foundation @@ -123923,55 +120340,41 @@ MONDO:0018067 triploidy oio:hasExactSynonym oio:hasRelatedSynonym triploidy synd MONDO:0018068 trisomy 13 oio:hasExactSynonym oio:hasRelatedSynonym D1 trisomy D1 trisomy d1 trisomy icd11.foundation:1435958084 Complete trisomy 13 NCIT:C36529, DOID:11665 updated D1 trisomy icd11.foundation:1435958084 icd11.foundation MONDO:0018103 Quinquaud's folliculitis decalvans oio:hasExactSynonym oio:hasRelatedSynonym folliculitis decalvans folliculitis decalvans Folliculitis decalvans icd11.foundation:1454811046 Folliculitis decalvans GARD:0000373 updated folliculitis decalvans icd11.foundation:1454811046 icd11.foundation MONDO:0018150 Gaucher disease oio:hasExactSynonym oio:hasRelatedSynonym cerebroside lipidosis syndrome cerebroside lipidosis syndrome Cerebroside lipidosis syndrome icd11.foundation:1923566939 Gaucher disease updated cerebroside lipidosis syndrome icd11.foundation:1923566939 icd11.foundation -MONDO:0018326 transient neonatal myasthenia gravis oio:hasExactSynonym oio:hasBroadSynonym neonatal myasthenia gravis neonatal myasthenia gravis Neonatal myasthenia gravis icd11.foundation:1274860004 Neonatal myasthenia gravis Orphanet:391504 updated neonatal myasthenia gravis icd11.foundation:1274860004 icd11.foundation MONDO:0018334 chronic hiccup oio:hasExactSynonym oio:hasRelatedSynonym chronic hiccups chronic hiccups Chronic hiccups icd11.foundation:1300687612 Chronic hiccups GARD:0006657 updated chronic hiccups icd11.foundation:1300687612 icd11.foundation -MONDO:0018479 congenital adrenal hyperplasia oio:hasExactSynonym oio:hasBroadSynonym adrenogenital syndrome icd11.foundation:131153029 Adrenogenital disorders NCIT:C34360 updated adrenogenital syndrome icd11.foundation:131153029 icd11.foundation MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym creeping eruption creeping eruption Creeping eruption icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 updated creeping eruption icd11.foundation:657025682 icd11.foundation MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym dew itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 updated dew itch icd11.foundation:657025682 icd11.foundation MONDO:0018500 cutaneous larva migrans oio:hasExactSynonym oio:hasRelatedSynonym ground itch ground itch Ground itch icd11.foundation:657025682 Cutaneous larva migrans GARD:0001629 updated ground itch icd11.foundation:657025682 icd11.foundation MONDO:0018634 hereditary amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym familial amyloidosis icd11.foundation:1152878652 Hereditary amyloidosis GARD:0006611 updated familial amyloidosis icd11.foundation:1152878652 icd11.foundation MONDO:0018687 progressive muscular atrophy oio:hasExactSynonym oio:hasRelatedSynonym pure progressive muscular atrophy icd11.foundation:1282359533 Progressive muscular atrophy DOID:318 updated pure progressive muscular atrophy icd11.foundation:1282359533 icd11.foundation -MONDO:0018746 mucous membrane pemphigoid oio:hasExactSynonym oio:hasRelatedSynonym ocular pemphigoid ocular pemphigoid Ocular pemphigoid icd11.foundation:953963439 Mucous membrane pemphigoid with ocular involvement SCTID:34250006, DOID:11656 updated ocular pemphigoid icd11.foundation:953963439 icd11.foundation MONDO:0018768 familial cold autoinflammatory syndrome oio:hasExactSynonym oio:hasRelatedSynonym familial cold urticaria familial cold urticaria Familial cold urticaria icd11.foundation:1932140025 Familial cold autoinflammatory syndrome Orphanet:47045 updated familial cold urticaria icd11.foundation:1932140025 icd11.foundation MONDO:0018770 Jeune syndrome oio:hasExactSynonym oio:hasRelatedSynonym asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy icd11.foundation:554018956 Asphyxiating thoracic dystrophy DOID:0050592 updated asphyxiating thoracic dystrophy icd11.foundation:554018956 icd11.foundation -MONDO:0018855 keratosis pilaris atrophicans oio:hasExactSynonym oio:hasRelatedSynonym keratosis pilaris keratosis pilaris Keratosis pilaris icd11.foundation:1614890502 Keratosis pilaris MESH:C537412, GARD:0001042, OMIM:604093 updated keratosis pilaris icd11.foundation:1614890502 icd11.foundation MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym lipoatrophic diabetes lipoatrophic diabetes Lipoatrophic diabetes icd11.foundation:1628738474 Berardinelli-Seip congenital lipodystrophy Orphanet:528 updated lipoatrophic diabetes icd11.foundation:1628738474 icd11.foundation MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio:hasRelatedSynonym congenital generalised lipodystrophy congenital generalised lipodystrophy Congenital generalised lipodystrophy icd11.foundation:641763399 Congenital generalised lipodystrophy http://purl.obolibrary.org/obo/OMO_0003005 updated congenital generalised lipodystrophy icd11.foundation:641763399 icd11.foundation MONDO:0018895 Plummer-Vinson syndrome oio:hasExactSynonym oio:hasRelatedSynonym Paterson-Kelly syndrome icd11.foundation:1568337509 Plummer-Vinson syndrome GARD:0008259 updated Paterson-Kelly syndrome icd11.foundation:1568337509 icd11.foundation MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism icd11.foundation:1654321425 Cushing syndrome Orphanet:553 updated hypercortisolism icd11.foundation:1654321425 icd11.foundation -MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym oio:hasRelatedSynonym polyostotic fibrous dysplasia polyostotic fibrous dysplasia Polyostotic fibrous dysplasia icd11.foundation:771587091 Polyostotic fibrous dysplasia DOID:1858, OMIM:174800 updated polyostotic fibrous dysplasia icd11.foundation:771587091 icd11.foundation MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge sequence icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 updated DiGeorge sequence icd11.foundation:1868156761 icd11.foundation MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasNarrowSynonym DiGeorge syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 updated DiGeorge syndrome icd11.foundation:1868156761 icd11.foundation MONDO:0018923 22q11.2 deletion syndrome oio:hasExactSynonym oio:hasRelatedSynonym velocardiofacial syndrome velocardiofacial syndrome Velocardiofacial syndrome icd11.foundation:1868156761 CATCH 22 phenotype Orphanet:567 updated velocardiofacial syndrome icd11.foundation:1868156761 icd11.foundation MONDO:0018924 microphthalmia, Lenz type oio:hasExactSynonym oio:hasRelatedSynonym syndromic microphthalmia type 1 syndromic microphthalmia type 1 Syndromic microphthalmia type 1 icd11.foundation:678242327 Microphthalmia, Lenz type GARD:0000087 updated syndromic microphthalmia type 1 icd11.foundation:678242327 icd11.foundation -MONDO:0018937 mucopolysaccharidosis type 3 oio:hasExactSynonym oio:hasNarrowSynonym N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 Mucopolysaccharidosis type 3B DOID:12801 updated N-acetyl-alpha-D-glucosaminidase deficiency icd11.foundation:117303909 icd11.foundation MONDO:0018938 mucopolysaccharidosis type 4 oio:hasExactSynonym oio:hasNarrowSynonym galactosamine-6-sulfatase deficiency galactosamine-6-sulfatase deficiency Galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 Mucopolysaccharidosis type 4 DOID:12804 updated galactosamine-6-sulfatase deficiency icd11.foundation:2078241550 icd11.foundation MONDO:0018940 congenital myasthenic syndrome oio:hasExactSynonym oio:hasRelatedSynonym congenital myasthenia icd11.foundation:1515367530 Congenital myasthenic syndromes GARD:0011902 updated congenital myasthenia icd11.foundation:1515367530 icd11.foundation -MONDO:0018944 gestational trophoblastic neoplasm oio:hasExactSynonym oio:hasRelatedSynonym molar pregnancy molar pregnancy Molar pregnancy icd11.foundation:946166369 Molar pregnancy NCIT:C3110, DOID:3590 updated molar pregnancy icd11.foundation:946166369 icd11.foundation -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Fluctuans Myotonia Fluctuans Myotonia fluctuans icd11.foundation:1294270721 Myotonia fluctuans OMIM:608390 updated Myotonia Fluctuans icd11.foundation:1294270721 icd11.foundation -MONDO:0018959 potassium-aggravated myotonia oio:hasExactSynonym oio:hasRelatedSynonym Myotonia Permanens Myotonia Permanens Myotonia permanens icd11.foundation:2133644550 Myotonia permanens OMIM:608390 updated Myotonia Permanens icd11.foundation:2133644550 icd11.foundation MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease von Recklinghausen disease icd11.foundation:337970533 Neurofibromatosis type 1 Orphanet:636, NCIT:C3273, OMIM:162200 updated Von Recklinghausen disease icd11.foundation:337970533 icd11.foundation MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, peripheral type neurofibromatosis, peripheral type Neurofibromatosis, peripheral type icd11.foundation:337970533 Neurofibromatosis type 1 OMIM:162200 updated neurofibromatosis, peripheral type icd11.foundation:337970533 icd11.foundation MONDO:0018978 IgG4-related mediastinitis oio:hasExactSynonym oio:hasRelatedSynonym idiopathic mediastinal fibrosis icd11.foundation:123840075 Fibrosing mediastinitis GARD:0008337 updated idiopathic mediastinal fibrosis icd11.foundation:123840075 icd11.foundation MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym stress-induced cardiomyopathy stress-induced cardiomyopathy Stress-induced cardiomyopathy icd11.foundation:478139552 Stress-induced cardiomyopathy GARD:0009400 updated stress-induced cardiomyopathy icd11.foundation:478139552 icd11.foundation MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Fragilitas ossium icd11.foundation:1219932551 Osteogenesis imperfecta DOID:12347 updated Fragilitas ossium icd11.foundation:1219932551 icd11.foundation -MONDO:0019019 osteogenesis imperfecta oio:hasExactSynonym oio:hasRelatedSynonym Vrolik disease icd11.foundation:2024049157 Osteogenesis imperfecta type 2 GARD:0001017 updated Vrolik disease icd11.foundation:2024049157 icd11.foundation MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym infection by Yersinia pestis infection by Yersinia pestis infection by yersinia pestis icd11.foundation:1596449540 Plague updated infection by Yersinia pestis icd11.foundation:1596449540 icd11.foundation MONDO:0019095 plague oio:hasExactSynonym oio:hasRelatedSynonym pestilential fever icd11.foundation:1596449540 Plague updated pestilential fever icd11.foundation:1596449540 icd11.foundation MONDO:0019100 neuromyelitis optica oio:hasExactSynonym oio:hasRelatedSynonym Devic syndrome icd11.foundation:744293382 Neuromyelitis optica GARD:0006267 updated Devic syndrome icd11.foundation:744293382 icd11.foundation -MONDO:0019148 Wolman disease oio:hasExactSynonym oio:hasBroadSynonym lysosomal acid lipase deficiency lysosomal acid lipase deficiency Lysosomal acid lipase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency NCIT:C61271 updated lysosomal acid lipase deficiency icd11.foundation:381622932 icd11.foundation MONDO:0019155 Leydig cell hypoplasia oio:hasExactSynonym oio:hasRelatedSynonym 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 Leydig cell hypoplasia GARD:0003244 updated 46,XY disorder of sex development due to LH defects icd11.foundation:472787488 icd11.foundation -MONDO:0019220 inborn disorder of cobalamin metabolism and transport oio:hasExactSynonym oio:hasBroadSynonym cobalamin deficiency icd11.foundation:1366882206 Vitamin B12 deficiency DOID:0050731 updated cobalamin deficiency icd11.foundation:1366882206 icd11.foundation MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym Zellweger spectrum disorder icd11.foundation:1919322367 Disorders of peroxisome biogenesis ORCID:0000-0002-6601-2165, https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder updated Zellweger spectrum disorder icd11.foundation:1919322367 icd11.foundation MONDO:0019234 peroxisome biogenesis disorder oio:hasExactSynonym oio:hasRelatedSynonym disorders of peroxisome biogenesis disorders of peroxisome biogenesis Disorders of peroxisome biogenesis icd11.foundation:1919322367 Disorders of peroxisome biogenesis GARD:0009473 updated disorders of peroxisome biogenesis icd11.foundation:1919322367 icd11.foundation -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma oio:hasExactSynonym oio:hasRelatedSynonym lamellar ichthyosis lamellar ichthyosis Lamellar ichthyosis icd11.foundation:600146417 Lamellar ichthyosis DOID:1699 updated lamellar ichthyosis icd11.foundation:600146417 icd11.foundation MONDO:0019329 microcystic lymphatic malformation oio:hasExactSynonym oio:hasRelatedSynonym capillary lymphangioma capillary lymphangioma Capillary lymphangioma icd11.foundation:1796778763 Microcystic lymphatic malformation Orphanet:79490 updated capillary lymphangioma icd11.foundation:1796778763 icd11.foundation MONDO:0019350 hereditary spherocytosis oio:hasExactSynonym oio:hasRelatedSynonym congenital spherocytosis icd11.foundation:1305248013 Hereditary spherocytosis GARD:0006639 updated congenital spherocytosis icd11.foundation:1305248013 icd11.foundation MONDO:0019359 Rocky mountain spotted fever oio:hasExactSynonym oio:hasRelatedSynonym sao Paulo typhus sao Paulo typhus Sao Paulo typhus icd11.foundation:215936800 Spotted fever due to Rickettsia rickettsii DOID:0050052 updated sao Paulo typhus icd11.foundation:215936800 icd11.foundation MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym Mite-borne typhus Mite-borne typhus mite-borne typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 updated Mite-borne typhus icd11.foundation:1695340384 icd11.foundation MONDO:0019365 scrub typhus oio:hasExactSynonym oio:hasRelatedSynonym tropical typhus icd11.foundation:1695340384 Typhus fever due to Orientia tsutsugamushi DOID:13371 updated tropical typhus icd11.foundation:1695340384 icd11.foundation MONDO:0019399 Isaac syndrome oio:hasExactSynonym oio:hasRelatedSynonym neuromyotonia neuromyotonia Neuromyotonia icd11.foundation:646523932 Neuromyotonia GARD:0006793 updated neuromyotonia icd11.foundation:646523932 icd11.foundation -MONDO:0019440 wild type ABeta2M amyloidosis oio:hasExactSynonym oio:hasRelatedSynonym Beta-2-microglobulin amyloidosis Beta-2-microglobulin amyloidosis beta-2-microglobulin amyloidosis icd11.foundation:448754119 Dialysis-associated amyloidosis GARD:0010563 updated Beta-2-microglobulin amyloidosis icd11.foundation:448754119 icd11.foundation MONDO:0019444 trichinellosis oio:hasExactSynonym oio:hasRelatedSynonym trichiniasis trichiniasis Trichiniasis icd11.foundation:284613639 Trichinosis GARD:0005250 updated trichiniasis icd11.foundation:284613639 icd11.foundation MONDO:0019456 acute myeloid leukemia with multilineage dysplasia oio:hasExactSynonym oio:hasRelatedSynonym acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 Acute myeloid leukaemia with myelodysplasia-related changes http://purl.obolibrary.org/obo/OMO_0003005 updated acute myeloid leukaemia with myelodysplasia-related features icd11.foundation:1235412948 icd11.foundation MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym oio:hasRelatedSynonym aggressive NK cell leukaemia aggressive NK cell leukaemia Aggressive NK cell leukaemia icd11.foundation:153957345 Aggressive NK cell leukaemia http://purl.obolibrary.org/obo/OMO_0003005 updated aggressive NK cell leukaemia icd11.foundation:153957345 icd11.foundation @@ -123983,15 +120386,12 @@ MONDO:0019547 Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wells' sy MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid lupus erythematosus icd11.foundation:153320433 Lupus erythematosus tumidus GARD:0013003 updated tumid lupus erythematosus icd11.foundation:153320433 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym von Willebrand disease von Willebrand disease Von Willebrand disease icd11.foundation:2112021600 Von Willebrand disease DOID:12531, Orphanet:903 updated von Willebrand disease icd11.foundation:2112021600 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular haemophilia vascular haemophilia Vascular haemophilia icd11.foundation:2112021600 Von Willebrand disease http://purl.obolibrary.org/obo/OMO_0003005 updated vascular haemophilia icd11.foundation:2112021600 icd11.foundation -MONDO:0019618 Sheehan syndrome oio:hasExactSynonym oio:hasRelatedSynonym postpartum panhypopituitary syndrome icd11.foundation:768216194 Hypopituitarism GARD:0007630 updated postpartum panhypopituitary syndrome icd11.foundation:768216194 icd11.foundation -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation +MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis NCIT:C79777 updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome icd11.foundation:20634476 VIPoma Orphanet:97282 updated WDHA syndrome icd11.foundation:20634476 icd11.foundation MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym oio:hasNarrowSynonym nonsyndromic pontocerebellar hypoplasia nonsyndromic pontocerebellar hypoplasia Nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 Pontocerebellar hypoplasia ORCID:0000-0002-6601-2165, Orphanet:98523 updated nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 icd11.foundation -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym oio:hasRelatedSynonym acute myelomonocytic leukaemia acute myelomonocytic leukaemia Acute myelomonocytic leukaemia icd11.foundation:1613358778 Acute myelomonocytic leukaemia http://purl.obolibrary.org/obo/OMO_0003005 updated acute myelomonocytic leukaemia icd11.foundation:1613358778 icd11.foundation MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired pure red cell aplasia icd11.foundation:45753120 Acquired pure red cell aplasia GARD:0010898 updated acquired pure red cell aplasia icd11.foundation:45753120 icd11.foundation MONDO:0020434 atrial septal defect, ostium secundum type oio:hasExactSynonym oio:hasRelatedSynonym ostium secundum atrial septal defect ostium secundum atrial septal defect Ostium secundum atrial septal defect icd11.foundation:1875768490 Atrial septal defect within oval fossa GARD:0005865 updated ostium secundum atrial septal defect icd11.foundation:1875768490 icd11.foundation -MONDO:0020492 hemimegalencephaly oio:hasExactSynonym oio:hasRelatedSynonym macrencephaly macrencephaly Macrencephaly icd11.foundation:368780653 Megalencephaly GARD:0002637 updated macrencephaly icd11.foundation:368780653 icd11.foundation MONDO:0020532 spirillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym spirillosis spirillosis Spirillosis icd11.foundation:1104357482 Spirillosis DOID:12096 updated spirillosis icd11.foundation:1104357482 icd11.foundation MONDO:0020533 streptobacillary rat-bite fever oio:hasExactSynonym oio:hasRelatedSynonym Streptobacillosis icd11.foundation:614000128 Streptobacillosis DOID:13238 updated Streptobacillosis icd11.foundation:614000128 icd11.foundation MONDO:0020680 acute bronchiolitis oio:hasExactSynonym oio:hasRelatedSynonym Capillary pneumonia Capillary pneumonia capillary pneumonia icd11.foundation:1310075986 Acute bronchiolitis UMLS:C0001311 updated Capillary pneumonia icd11.foundation:1310075986 icd11.foundation @@ -124008,7 +120408,6 @@ MONDO:0020971 gonococcal urethritis oio:hasExactSynonym oio:hasRelatedSynonym Go MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous Prostatitis Granulomatous Prostatitis Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis NCIT:C26789 updated Granulomatous Prostatitis icd11.foundation:66037326 icd11.foundation MONDO:0020977 granulomatous prostatitis oio:hasExactSynonym oio:hasRelatedSynonym Granulomatous prostatitis icd11.foundation:66037326 Granulomatous prostatitis UMLS:C0018204 updated Granulomatous prostatitis icd11.foundation:66037326 icd11.foundation MONDO:0021022 hereditary hyperekplexia oio:hasExactSynonym oio:hasBroadSynonym hyperekplexia hyperekplexia Hyperekplexia icd11.foundation:988250063 Hereditary hyperekplexia Orphanet:3197 updated hyperekplexia icd11.foundation:988250063 icd11.foundation -MONDO:0021113 respiratory failure oio:hasExactSynonym oio:hasNarrowSynonym acute respiratory failure acute respiratory failure Acute respiratory failure icd11.foundation:875272781 Acute respiratory failure NCIT:C27043, DOID:11162 updated acute respiratory failure icd11.foundation:875272781 icd11.foundation MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic Lichen Planus Hypertrophic Lichen Planus Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus NCIT:C34779 updated Hypertrophic Lichen Planus icd11.foundation:1096967508 icd11.foundation MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Hypertrophic lichen planus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 updated Hypertrophic lichen planus icd11.foundation:1096967508 icd11.foundation MONDO:0021377 hypertrophic lichen planus oio:hasExactSynonym oio:hasRelatedSynonym Lichen planus hypertrophicus icd11.foundation:1096967508 Hypertrophic lichen planus UMLS:C0023649 updated Lichen planus hypertrophicus icd11.foundation:1096967508 icd11.foundation @@ -124053,8 +120452,6 @@ MONDO:0024333 sciatica oio:hasExactSynonym oio:hasRelatedSynonym sciatic neuralg MONDO:0024346 pityriasis amiantacea oio:hasExactSynonym oio:hasRelatedSynonym tinea amiantacea tinea amiantacea Tinea amiantacea icd11.foundation:210953452 Pityriasis amiantacea updated tinea amiantacea icd11.foundation:210953452 icd11.foundation MONDO:0024652 embryonic cyst of fallopian tube oio:hasExactSynonym oio:hasRelatedSynonym cyst of mesenteric remnant icd11.foundation:440178290 Embryonic cyst of fallopian tube updated cyst of mesenteric remnant icd11.foundation:440178290 icd11.foundation MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type oio:hasExactSynonym oio:hasRelatedSynonym SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE Spondyloepiphyseal dysplasia, Nishimura type icd11.foundation:523290419 Spondyloepiphyseal dysplasia, Nishimura type OMIM:618618 updated SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE icd11.foundation:523290419 icd11.foundation -MONDO:0041751 multibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym lepromatous leprosy lepromatous leprosy Lepromatous leprosy icd11.foundation:365370459 Lepromatous leprosy PMID:27219008, ORCID:0000-0002-6601-2165 updated lepromatous leprosy icd11.foundation:365370459 icd11.foundation -MONDO:0041752 paucibacillary leprosy oio:hasExactSynonym oio:hasRelatedSynonym tuberculoid leprosy tuberculoid leprosy Tuberculoid leprosy icd11.foundation:310697776 Tuberculoid leprosy ORCID:0000-0002-6601-2165, PMID:27219008 updated tuberculoid leprosy icd11.foundation:310697776 icd11.foundation MONDO:0042981 aortic valve stenosis oio:hasExactSynonym oio:hasRelatedSynonym valvular aortic stenosis icd11.foundation:956813047 Aortic valve stenosis GARD:0005830 updated valvular aortic stenosis icd11.foundation:956813047 icd11.foundation MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossalgia glossalgia Glossalgia icd11.foundation:1755751917 Glossodynia updated glossalgia icd11.foundation:1755751917 icd11.foundation MONDO:0043237 glossodynia oio:hasExactSynonym oio:hasRelatedSynonym glossopyrosis glossopyrosis Glossopyrosis icd11.foundation:1755751917 Glossodynia MESH:D005926 updated glossopyrosis icd11.foundation:1755751917 icd11.foundation @@ -124071,4 +120468,3 @@ MONDO:0043765 presbycusis oio:hasExactSynonym oio:hasRelatedSynonym senile deafn MONDO:0043783 sclerema neonatorum oio:hasExactSynonym oio:hasRelatedSynonym underwood's disease underwood's disease Underwood's disease icd11.foundation:1470028414 Sclerema neonatorum updated underwood's disease icd11.foundation:1470028414 icd11.foundation MONDO:0043919 radiation pneumonitis oio:hasExactSynonym oio:hasRelatedSynonym radiation pneumonia icd11.foundation:1914397767 Radiation pneumonitis MESH:D017564 updated radiation pneumonia icd11.foundation:1914397767 icd11.foundation MONDO:0100480 autoimmune primary adrenal insufficiency oio:hasExactSynonym oio:hasRelatedSynonym autoimmune adrenalitis autoimmune adrenalitis Autoimmune adrenalitis icd11.foundation:1920929898 Acquired adrenocortical insufficiency NCIT:C113814 updated autoimmune adrenalitis icd11.foundation:1920929898 icd11.foundation -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease oio:hasExactSynonym oio:hasRelatedSynonym Haddad syndrome icd11.foundation:1685926536 Haddad syndrome OMIM:209880 updated Haddad syndrome icd11.foundation:1685926536 icd11.foundation diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index c6b79aeb..5095d904 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -1216,7 +1216,7 @@ MONDO:0857341 thyroid gland lipoadenoma NCIT:C46118 MONDO:equivalentTo Thyroid G MONDO:0857342 thyroid gland clear cell follicular adenoma NCIT:C46119 MONDO:equivalentTo Thyroid Gland Clear Cell Follicular Adenoma A thyroid gland adenoma composed of follicular cells with cytoplasmic clearing. MONDO:0003426|MONDO:0005032 MONDO:0857343 thyroid gland hyperfunctioning adenoma NCIT:C46122 MONDO:equivalentTo Thyroid Gland Hyperfunctioning Adenoma A thyroid gland adenoma producing thyroxin. It is associated with hyperthyroidism. Radioactive iodine scan reveals a hot nodule. MONDO:0005032 MONDO:0857345 thyroid gland paraganglioma NCIT:C46125 MONDO:equivalentTo Thyroid Gland Paraganglioma A rare, circumscribed or encapsulated neuroendocrine tumor arising from the thyroid gland. Microscopically, it is characterized by the presence of tumor cells arranged in a nesting (Zellballen) growth pattern. The reported cases have followed a benign clinical course. MONDO:0006239|MONDO:0015074 -MONDO:0857346 benign skin appendage neoplasm NCIT:C4615 MONDO:equivalentTo Benign Skin Appendage Neoplasm A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. MONDO:0021440|MONDO:0002297 +MONDO:0857346 benign skin appendage neoplasm NCIT:C4615 MONDO:equivalentTo Benign Skin Appendage Neoplasm A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma. MONDO:0002297|MONDO:0021440 MONDO:0857349 pineal region germ cell tumor NCIT:C4659 MONDO:equivalentTo Pineal Region Germ Cell Tumor A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma. MONDO:0021232|MONDO:0003000 MONDO:0857356 adenocarcinoma with metaplasia NCIT:C4712 MONDO:equivalentTo Adenocarcinoma with Metaplasia An adenocarcinoma characterized by the presence of metaplasia. MONDO:0004970 MONDO:0857357 atypical meningioma NCIT:C4723 MONDO:equivalentTo Atypical Meningioma A WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis. MONDO:0045056